{"input": "In addition, the combined cancer genome expression metaanalysis datasets included PDE11A among the top 1% down-regulated genes in PCa.", "output": {"entities": {"gene": [{"text": "PDE11A", "start": 82, "end": 88}], "disease": [{"text": "cancer", "start": 26, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the CYGB gene is regulated by both promoter methylation and tumour hypoxia in HNSCC and that increased expression of this gene correlates with clincopathological measures of a tumour' s biological aggression.", "output": {"entities": {"gene": [{"text": "CYGB gene", "start": 21, "end": 30}], "disease": [{"text": "aggression", "start": 214, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Thus, the role of SIVA in tumorigenesis remains unclear.", "output": {"entities": {"gene": [{"text": "SIVA", "start": 18, "end": 22}], "disease": [{"text": "tumorigenesis", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Polycystin-2 (PC2), encoded by the PKD2 gene, mutated in 10-15% of autosomal-dominant polycystic kidney disease (ADPKD) patients, is a Ca2 +-permeable cation channel present in kidney epithelia and other tissues.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 135, "end": 138}], "disease": [{"text": "polycystic kidney disease", "start": 86, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the Mediterranean fever gene (MEFV) localized on the short arm of chromosome 16 cause FMF.", "output": {"entities": {"gene": [{"text": "Mediterranean fever", "start": 17, "end": 36}], "disease": [{"text": "FMF", "start": 99, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Mediterranean fever", "start": 17, "end": 36}, "tail": {"text": "FMF", "start": 99, "end": 102}}]}}, "schema": []}
{"input": "On the other hand, despite remarkably increased plasma active GLP-1 levels (4. 2-fold increase), the ingestion of alogliptin, a selective dipeptidyl peptidase-4 inhibitor, over 3 days had no effects on food intake, body weight, blood glucose levels, and plasma Fgf21 levels in KKA (y) mice.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 62, "end": 67}], "disease": [{"text": "body weight", "start": 215, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Enforced PlGF expression in mice stimulates production of the potent vasoconstrictor endothelin-1, producing pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "PlGF", "start": 9, "end": 13}], "disease": [{"text": "pulmonary hypertension", "start": 109, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, p12 (CDK2-AP1) over-expression inhibited in vivo tumor growth in immunodeficiency mice, supporting an inhibitory role for p12 (CDK2-AP1) in breast cancer development.", "output": {"entities": {"gene": [{"text": "p12", "start": 13, "end": 16}], "disease": [{"text": "immunodeficiency", "start": 78, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "CMV infection of RPE cells induced translocation of NF-kappaB from the cytoplasm to the nucleus.", "output": {"entities": {"gene": [{"text": "RPE", "start": 17, "end": 20}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Protein expression profiles of the CXC chemokines growth-related oncogene alpha (GRO-alpha/CXCL1), epithelial cell-derived neutrophil-activating peptide-78 (ENA-78/CXCL5), granulocyte chemoattractant protein-2 (GCP-2/CXCL6), neutrophil-activating protein-2 (NAP-2/CXCL7), and interleukin-8 (IL-8/CXCL8) were assessed by enzyme-linked immunosorbent assay in pancreatic carcinoma, cancer of the papilla of Vater, pancreatic cystadenoma, and chronic pancreatitis specimens.", "output": {"entities": {"gene": [{"text": "CXCL1", "start": 91, "end": 96}], "disease": [{"text": "chronic pancreatitis", "start": 439, "end": 459}]}, "relations": {}}, "schema": []}
{"input": "We focused on two biologically relevant gene categories: genes involved in non-HFE GH (TFR2, HAMP, and SLC40A1) and genes involved in the regulation of hepcidin expression, including genes from the bone morphogenetic protein (BMP) regulatory pathway (BMP2, BMP4, HJV, SMAD1, SMAD4, and SMAD5) and the IL6 gene from the inflammation-mediated regulation pathway.", "output": {"entities": {"gene": [{"text": "BMP2", "start": 251, "end": 255}], "disease": [{"text": "inflammation", "start": 319, "end": 331}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings identify YAP as a novel mediator of hypoxic-resistance to SN38.", "output": {"entities": {"gene": [{"text": "YAP", "start": 38, "end": 41}], "disease": [{"text": "hypoxic", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Adenoviral-mediated rescue of beta2-adrenergic receptor (beta2AR) function into the alveolar epithelium of beta1AR-/-/beta2AR-/-and beta1AR +/+/beta2AR-/-mice normalized distal lung beta2AR function, alveolar epithelial active Na + transport, and survival from hyperoxia.", "output": {"entities": {"gene": [{"text": "beta2", "start": 30, "end": 35}], "disease": [{"text": "hyperoxia", "start": 261, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Although more studies are necessary, our results suggest that UCP2 is not been used as a compensatory mechanism to oppose the higher levels of oxidative stress found in BD and SCZ.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 62, "end": 66}], "disease": [{"text": "SCZ", "start": 176, "end": 179}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "UCP2", "start": 62, "end": 66}, "tail": {"text": "SCZ", "start": 176, "end": 179}}]}}, "schema": []}
{"input": "Taken together, our results provide the first demonstration of a novel mechanism by which AEG-1 induces proliferation of breast cancer cell, and our findings suggest that AEG-1 might play an important role in tumorigenesis of breast cancer.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 90, "end": 95}], "disease": [{"text": "tumorigenesis", "start": 209, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Effects of differences in polymorphism of gene encoding enzyme faenesyl diphosphate synthase (FDPS), rs2297480, on bone mineral density and biochemical markers of bone turnover in Thai postmenopausal women.", "output": {"entities": {"gene": [{"text": "FDPS", "start": 94, "end": 98}], "disease": [{"text": "bone mineral density", "start": 115, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In contrast, ATF3 or ATF4 overexpression in nucleus accumbens decreases emotional reactivity and increases depression-like behavior, consistent with the behavioral phenotype induced by CREB.", "output": {"entities": {"gene": [{"text": "ATF4", "start": 21, "end": 25}], "disease": [{"text": "depression", "start": 107, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATF4", "start": 21, "end": 25}, "tail": {"text": "depression", "start": 107, "end": 117}}]}}, "schema": []}
{"input": "In contrast, overexpression of TAZ in SK‑N‑SH human neuroblastoma cells was shown by Transwell migration and invasion assays, and western blot analysis, to result in epithelial‑mesenchymal transition (EMT) and increased invasiveness.", "output": {"entities": {"gene": [{"text": "EMT", "start": 201, "end": 204}], "disease": [{"text": "neuroblastoma", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Subsequent investigation of Rut acting targets indicates that as a specific protein tyrosine phosphatase 1B (PTP1B) inhibitor Rut induces basal GLUT4 translocation to some extent and largely enhances insulin-induced GLUT4 translocation through PI3 kinase-AKT/PKB pathway, while as an agonist of retinoid X receptor α (RXRα), Rut potently increases GLUT4 expression.", "output": {"entities": {"gene": [{"text": "PKB", "start": 259, "end": 262}], "disease": [{"text": "translocation", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "This study investigates whether microsatellite instability (MSI) due to defects of the mismatch repair (MMR) system could be associated with response to cisplatin-based neoadjuvant chemotherapy (NACT) and if cisplatin exposure could select MSI-positive cell clones in cervical cancer.", "output": {"entities": {"gene": [{"text": "MMR", "start": 104, "end": 107}], "disease": [{"text": "microsatellite instability", "start": 32, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Histidine decarboxylase, DOPA decarboxylase, and vesicular monoamine transporter 2 expression in neuroendocrine tumors: immunohistochemical study and gene expression analysis.", "output": {"entities": {"gene": [{"text": "Histidine decarboxylase", "start": 0, "end": 23}], "disease": [{"text": "neuroendocrine tumors", "start": 97, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "ATD is closely related to the short rib polydactyly syndrome (SRP) type III, which is a more severe condition characterized by early prenatal expression and lethality and variable malformations.", "output": {"entities": {"gene": [{"text": "SRP", "start": 62, "end": 65}], "disease": [{"text": "malformations", "start": 180, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "The evidence that Jun/AP-1 proteins control inflammation in the skin is summarised in this article.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 22, "end": 26}], "disease": [{"text": "inflammation", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "This study describes a novel partial deletion of the STS gene in an X-linked ichthyosis patient.", "output": {"entities": {"gene": [{"text": "STS", "start": 53, "end": 56}], "disease": [{"text": "X-linked ichthyosis", "start": 68, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STS", "start": 53, "end": 56}, "tail": {"text": "X-linked ichthyosis", "start": 68, "end": 87}}]}}, "schema": []}
{"input": "We investigated immunohistochemical expression of vascular endothelial growth factor (VEGF), angiopoietins (Ang-1 and Ang-2), hypoxia-induced factor-1alpha (HIF-1alpha) and thrombospondin-1 (TSP-1) in 60 specimens of surgically resected HCC.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 86, "end": 90}], "disease": [{"text": "hypoxia", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "After viral infection, HSCARG interacted with tumor necrosis receptor-associated factor 3 (TRAF3) and inhibited its ubiquitination by promoting the recruitment of OTUB1 to TRAF3.", "output": {"entities": {"gene": [{"text": "OTUB1", "start": 163, "end": 168}], "disease": [{"text": "tumor necrosis", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The liver diseases include genetic and chemical-induced HCC, liver injury and regeneration, cirrhosis, and other types of liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 56, "end": 59}], "disease": [{"text": "liver diseases", "start": 4, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined the expression of AQP in several commonly used human glioma cell lines (D54, D65, STTG1, U87, U251) and in numerous acute patient biopsies by PCR, Western blot, and immunocytochemistry and compared them to nonmalignant astrocytes and normal brain.", "output": {"entities": {"gene": [{"text": "U87", "start": 116, "end": 119}], "disease": [{"text": "glioma", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "miRNA profiling unsupervised analysis classified samples in unique clusters characterized by histological features (tumor/nontumor, P < 0. 001; benign/malignant tumors, P < 0. 01; inflammatory adenoma and focal nodular hyperplasia, P < 0. 01), clinical characteristics [hepatitis B virus (HBV) infection, P < 0. 001; alcohol consumption, P < 0. 05], and oncogene/tumor suppressor gene mutations [beta-catenin, P < 0. 01; hepatocyte nuclear factor 1alpha (HNF1alpha), P < 0. 01].", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 396, "end": 408}], "disease": [{"text": "alcohol consumption", "start": 317, "end": 336}]}, "relations": {}}, "schema": []}
{"input": "Previous studies revealed that the common sequence variant I148M in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is associated with liver fat content and liver diseases, but not with insulin resistance.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 124, "end": 130}], "disease": [{"text": "insulin resistance", "start": 202, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "An inverse correlation was present between MLH1 methylation and alcohol consumption.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 43, "end": 47}], "disease": [{"text": "alcohol consumption", "start": 64, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "After the rats with acute hepatic failure were treated with recombinant pcDNA3-ALR plasmid, the survival rate (40%) significantly increased in treatment groups compared to control group (15%, P & lt; 0. 01).", "output": {"entities": {"gene": [{"text": "ALR", "start": 79, "end": 82}], "disease": [{"text": "acute hepatic failure", "start": 20, "end": 41}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ALR", "start": 79, "end": 82}, "tail": {"text": "acute hepatic failure", "start": 20, "end": 41}}]}}, "schema": []}
{"input": "Chetomin treatment significantly reduced CA9 and VEGF mRNA expression in hypoxic cells to 44. 4 +/-7. 2% and 39. 6 +/-16. 0%, respectively, of untreated hypoxic controls.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxic", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Genetic deletion of LKB1 in various mouse tissues results in tumorigenesis, and loss of LKB1 increases metastasis in a mouse model of NSCLC.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 20, "end": 24}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "This juxtaposition of the bcl-2 and Ig lambda genes resembles a variant chromosome translocation in Burkitt' s lymphoma, although karyotype data of CLL 1446 is not available.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 26, "end": 31}], "disease": [{"text": "chromosome translocation", "start": 72, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The efficiency of the dry-heat process (100 degrees C) on inactivation of B19 spiked and lyophilized with fibrinogen, a major component of the clotting factor concentrate and hemostatic dressing products, was investigated by use of B19-specific LC RT-PCR infectivity assay.", "output": {"entities": {"gene": [{"text": "B19", "start": 74, "end": 77}], "disease": [{"text": "fibrinogen", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Our study sheds light on the question of how the matrix molecule versican modulates tumorigenesis by affecting integrin and EGFR signals.", "output": {"entities": {"gene": [{"text": "versican", "start": 65, "end": 73}], "disease": [{"text": "tumorigenesis", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In addition, IKZF1 has been implicated in roles involved in some hematologic traits or abnormalities, such as erythrocyte measures, myelofibrosis, and acute lymphoblastic leukemia (ALL), which may be common clinical manifestations or co-occurrence hematological diseases of patients with SLE.", "output": {"entities": {"gene": [{"text": "IKZF1", "start": 13, "end": 18}], "disease": [{"text": "abnormalities", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Ski proto-oncogene-/-mice have phenotypes that resemble some of the features observed in patients with 1p36 deletion syndrome.", "output": {"entities": {"gene": [{"text": "Ski proto-oncogene", "start": 0, "end": 18}], "disease": [{"text": "1p36 deletion syndrome", "start": 103, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Ski proto-oncogene", "start": 0, "end": 18}, "tail": {"text": "1p36 deletion syndrome", "start": 103, "end": 125}}]}}, "schema": []}
{"input": "Mutations in the sialidase gene NEU1, located on chromosome 6p21. 3, result in autosomal recessive disorder, sialidosis, which is characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides.", "output": {"entities": {"gene": [{"text": "NEU1", "start": 32, "end": 36}], "disease": [{"text": "sialidosis", "start": 109, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NEU1", "start": 32, "end": 36}, "tail": {"text": "sialidosis", "start": 109, "end": 119}}]}}, "schema": []}
{"input": "These direct effects of GnRHa on the number of viable cultured leiomyoma cells, PCNA-positive rate, apoptosis-positive rate and Fas/Fas ligand expression in the cultured leiomyoma cells were only attained after the 4-day treatment.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 132, "end": 142}], "disease": [{"text": "leiomyoma", "start": 63, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Because some of these patients present clinical features similar to those of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA), an inherited connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1, we studied seven patients with Nevo syndrome, three of whom have previously been reported, and four of whom are new.", "output": {"entities": {"gene": [{"text": "PLOD1", "start": 249, "end": 254}], "disease": [{"text": "Nevo syndrome", "start": 287, "end": 300}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLOD1", "start": 249, "end": 254}, "tail": {"text": "Nevo syndrome", "start": 287, "end": 300}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization on paraffin-embedded tissue sections (T-FISH) identified a translocation of BCL2 with IGH gene.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 111, "end": 115}], "disease": [{"text": "translocation", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Cell protection assay and temporal antiviral studies showed that HD5 and its mutants displayed affirmatory but differential anti-HSV-2 effects in vitro by inhibiting viral adhesion and entry.", "output": {"entities": {"gene": [{"text": "HD5", "start": 65, "end": 68}], "disease": [{"text": "adhesion", "start": 172, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Individuals with visceral leishmaniasis, or kala azar (KA) and individuals with post-KA dermal leishmaniasis (PKDL) are considered to be reservoirs of transmission of Leishmania donovani in India.", "output": {"entities": {"gene": [{"text": "PKDL", "start": 110, "end": 114}], "disease": [{"text": "leishmaniasis", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.", "output": {"entities": {"gene": [{"text": "BGN", "start": 0, "end": 3}], "disease": [{"text": "X-Linked Spondyloepimetaphyseal Dysplasia", "start": 17, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BGN", "start": 0, "end": 3}, "tail": {"text": "X-Linked Spondyloepimetaphyseal Dysplasia", "start": 17, "end": 58}}]}}, "schema": []}
{"input": "Knockdown of the ANLN gene in zebrafish morphants caused a loss of glomerular filtration barrier integrity, podocyte foot process effacement, and an edematous phenotype.", "output": {"entities": {"gene": [{"text": "ANLN gene", "start": 17, "end": 26}], "disease": [{"text": "podocyte foot process effacement", "start": 108, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Iodotyrosine deiodinase is a thyroidal enzyme that deiodinates mono-and di-iodotyrosines (MIT, DIT) and recycles iodine, a scarce element in the environment, for the efficient synthesis of thyroid hormone.", "output": {"entities": {"gene": [{"text": "Iodotyrosine deiodinase", "start": 0, "end": 23}], "disease": [{"text": "mono", "start": 63, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In contrast, B1R mRNA was not detected in control rat urinary bladder; however, following acute (24 h) and chronic (8 day) CYP-induced cystitis in the rat, B1R mRNA was detected throughout the bladder.", "output": {"entities": {"gene": [{"text": "B1R", "start": 13, "end": 16}], "disease": [{"text": "cystitis", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Tumor necrosis factor-alpha and interferon (IFN)-gamma inflammatory cytokines had no or mild effect on MUC4 transcriptional activity when used alone.", "output": {"entities": {"gene": [{"text": "MUC4", "start": 103, "end": 107}], "disease": [{"text": "mild", "start": 88, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "These results confirm that ADULT syndrome is a clinically as well as molecularly distinct member of the expanding p63 mutation family of human malformation syndromes.", "output": {"entities": {"gene": [{"text": "p63", "start": 114, "end": 117}], "disease": [{"text": "ADULT syndrome", "start": 27, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p63", "start": 114, "end": 117}, "tail": {"text": "ADULT syndrome", "start": 27, "end": 41}}]}}, "schema": []}
{"input": "HGF and chemical hypoxia with CoCl2 cooperatively promoted in vitro invasion and vascular endothelial growth factor (VEGF) secretion, while CoCl2 but not HGF activated urokinase-type plasminogen activator and matrix metalloproteinase 2, both of which promote invasion and angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 117, "end": 121}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "17-AAG, a heat shock protein 90 (HSP-90) inhibitor, was shown to modulate the expression of several diverse cancer-associated genes, including ADAMTS1, part of the query signature, and maspin, an HSP-90-associated protein with a tumor suppressor role in HCC.", "output": {"entities": {"gene": [{"text": "ADAMTS1", "start": 143, "end": 150}], "disease": [{"text": "HCC", "start": 254, "end": 257}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADAMTS1", "start": 143, "end": 150}, "tail": {"text": "HCC", "start": 254, "end": 257}}]}}, "schema": []}
{"input": "The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities.", "output": {"entities": {"gene": [{"text": "SRP", "start": 27, "end": 30}], "disease": [{"text": "abnormalities", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Further, overexpression of nuclear-localized p44 stimulates proliferation and invasion in ovarian cancer cells in the presence of estrogen or androgen.", "output": {"entities": {"gene": [{"text": "p44", "start": 45, "end": 48}], "disease": [{"text": "ovarian cancer", "start": 90, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p44", "start": 45, "end": 48}, "tail": {"text": "ovarian cancer", "start": 90, "end": 104}}]}}, "schema": []}
{"input": "Crigler-Najjar syndrome type I (CN I) is a rare autosomal recessive disorder due to hepatic dysfunction of uridine diphospho-glucuronosyltransferase (UGT) activity toward bilirubin.", "output": {"entities": {"gene": [{"text": "UGT", "start": 150, "end": 153}], "disease": [{"text": "hepatic dysfunction", "start": 84, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The results showed that RhoC, IQGAP1 and the C-terminal fragment of IQGAP1 significantly stimulated the proliferation of gastric cancer cells, and enhanced the expression of cyclin E and cyclin D1.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 24, "end": 28}], "disease": [{"text": "gastric cancer", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The clinicopathological factors including age, sex, tumor location, size, gross appearance, stromal reaction pattern, degree of cellular differentiation, histological classification, depth of tumor invasion, lymph node status, peritoneal dissemination, liver metastasis and TNM stage were analyzed according to the different expression of CD40.", "output": {"entities": {"gene": [{"text": "CD40", "start": 339, "end": 343}], "disease": [{"text": "liver metastasis", "start": 253, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "The insulin sensitivity indices HOMA-IR (homeostasis model assessment of insulin resistance), ISI-COMP (whole body insulin sensitivity index), ISI-HOMA (hepatic insulin sensitivity), and DELTA (early secretory response to an oral glucose load) were calculated.", "output": {"entities": {"gene": [{"text": "COMP", "start": 98, "end": 102}], "disease": [{"text": "insulin resistance", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In 99 patients receiving IV fentanyl, midazolam, or both, we evaluated drug doses, covariates likely to influence drug effects (age, body mass index, and renal and hepatic dysfunction); delirium risk factors; concomitant administration of CYP3A and P-glycoprotein substrates/inhibitors; ABCB1, ABCG2, and CYP3A5 genetic polymorphisms; and fentanyl and midazolam plasma levels.", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 287, "end": 292}], "disease": [{"text": "hepatic dysfunction", "start": 164, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "These findings elicit that HHcy induces cardiac hypertrophy by promoting MEF2C-HDAC1 complex formation that inactivates MEF2C causing suppression of anti-hypertrophy miR-133a in cardiomyocytes.", "output": {"entities": {"gene": [{"text": "HDAC1", "start": 79, "end": 84}], "disease": [{"text": "hypertrophy", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Platelet adhesion to ferric chloride-treated mesenteric arterioles in IL4Ralpha/GPIbalpha-tg mice was virtually absent in contrast to avid adhesion in WT mice.", "output": {"entities": {"gene": [{"text": "GPIbalpha", "start": 80, "end": 89}], "disease": [{"text": "adhesion", "start": 9, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, CNK1 is found preferentially at the plasma membrane in carcinoma in situ and invasive breast cancer tumours compared with normal breast tissue sections.", "output": {"entities": {"gene": [{"text": "CNK1", "start": 13, "end": 17}], "disease": [{"text": "invasive breast cancer", "start": 90, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Low BIK outside-inside-out interactive inflammation immune-induced transcription-dependent apoptosis through FUT3-PMM2-SQSTM1-SFN-ZNF384.", "output": {"entities": {"gene": [{"text": "BIK", "start": 4, "end": 7}], "disease": [{"text": "inflammation", "start": 39, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "When analyzed by histology the GSTM1 null genotype was more prevalent in squamous-cell carcinoma and adenocarcinoma patients.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 31, "end": 36}], "disease": [{"text": "carcinoma", "start": 87, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In addition, CRB1 mutations were detected in five of nine patients who had RP with Coats-like exudative vasculopathy, a relatively rare complication of RP that may progress to partial or total retinal detachment.", "output": {"entities": {"gene": [{"text": "CRB1", "start": 13, "end": 17}], "disease": [{"text": "retinal detachment", "start": 193, "end": 211}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRB1", "start": 13, "end": 17}, "tail": {"text": "retinal detachment", "start": 193, "end": 211}}]}}, "schema": []}
{"input": "These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.", "output": {"entities": {"gene": [{"text": "nm23-H1", "start": 286, "end": 293}], "disease": [{"text": "HCC", "start": 333, "end": 336}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nm23-H1", "start": 286, "end": 293}, "tail": {"text": "HCC", "start": 333, "end": 336}}]}}, "schema": []}
{"input": "We demonstrate that the mechanical hyperalgesia induced by intradermal injection of BK can be blocked by the kappa-opioid agonist trans-3, 4-dichloro-N-methyl-N [2-(-pyrrolidinyl) cyclo-hexyl] benzeneacetamide (U50, 488H) and by the delta-opioid agonist (D-Pen2, 5)-enkephalin (DPDPE), as well as the mu-opioid agonist Tyr-D-Ala-Gly-NMe-Phe-Gly-ol (DAMGO).", "output": {"entities": {"gene": [{"text": "BK", "start": 84, "end": 86}], "disease": [{"text": "mechanical hyperalgesia", "start": 24, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BK", "start": 84, "end": 86}, "tail": {"text": "mechanical hyperalgesia", "start": 24, "end": 47}}]}}, "schema": []}
{"input": "Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.", "output": {"entities": {"gene": [{"text": "NDUFA6", "start": 24, "end": 30}], "disease": [{"text": "Mitochondrial Complex I Deficiency", "start": 74, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDUFA6", "start": 24, "end": 30}, "tail": {"text": "Mitochondrial Complex I Deficiency", "start": 74, "end": 108}}]}}, "schema": []}
{"input": "We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 93, "end": 98}], "disease": [{"text": "ADCA-DN", "start": 61, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNMT1", "start": 93, "end": 98}, "tail": {"text": "ADCA-DN", "start": 61, "end": 68}}]}}, "schema": []}
{"input": "Rearrangements of c-myc are associated with Burkitt' s lymphoma and of bcl-2 with centroblastic/centrocytic lymphoma.", "output": {"entities": {"gene": [{"text": "c-myc", "start": 18, "end": 23}], "disease": [{"text": "centrocytic lymphoma", "start": 96, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Similar to Abca4 (-/-) mice, Abca4 (PV/PV) mice showed substantial A2E and lipofuscin accumulation in their RPE cells but no retinal degeneration up to 12 months of age.", "output": {"entities": {"gene": [{"text": "Abca4", "start": 11, "end": 16}], "disease": [{"text": "retinal degeneration", "start": 125, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Diagnostic value of cytokeratin 7 and parvalbumin in differentiating chromophobe renal cell carcinoma from renal oncocytoma.", "output": {"entities": {"gene": [{"text": "cytokeratin 7", "start": 20, "end": 33}], "disease": [{"text": "chromophobe renal cell carcinoma", "start": 69, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cytokeratin 7", "start": 20, "end": 33}, "tail": {"text": "chromophobe renal cell carcinoma", "start": 69, "end": 101}}]}}, "schema": []}
{"input": "We found no evidence of a substantial involvement of these nine CYB5A or CYB5R3 polymorphisms in sulfonamide hypersensitivity risk, although minor effects cannot be completely ruled out.", "output": {"entities": {"gene": [{"text": "CYB5A", "start": 64, "end": 69}], "disease": [{"text": "hypersensitivity", "start": 109, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that X chromosome abnormalities contribute to the pathogenesis of BLC, both inherited and sporadic.", "output": {"entities": {"gene": [{"text": "BLC", "start": 88, "end": 91}], "disease": [{"text": "chromosome abnormalities", "start": 29, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Hereditary retinoblastoma constitutes a cancer predisposition syndrome: a subject constitutionally carrying an RB1 gene mutation has a greater than 90% risk of developing retinoblastoma but is also at increased risk of developing other types of cancers. Diagnosis is made by fundoscopy.", "output": {"entities": {"gene": [{"text": "RB1", "start": 111, "end": 114}], "disease": [{"text": "Hereditary retinoblastoma", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RB1", "start": 111, "end": 114}, "tail": {"text": "Hereditary retinoblastoma", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "Lentivirus-mediated RNAi of signal transducer and activator of transcription 1 (STAT1) expression abolished the inhibitory effect of IFNgamma on hypoxia-induced reporter gene activity.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 80, "end": 85}], "disease": [{"text": "hypoxia", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The hybridization pattern for VEGF mRNAs was consistent with hypoxia-induced VEGF mRNA steady-state levels and supports the hypothesis that oxidative stress regulates VEGF expression in breast tumors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 30, "end": 34}], "disease": [{"text": "hypoxia", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.", "output": {"entities": {"gene": [{"text": "MYH14", "start": 132, "end": 137}], "disease": [{"text": "peripheral neuropathy, myopathy, hoarseness, and hearing loss", "start": 23, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH14", "start": 132, "end": 137}, "tail": {"text": "peripheral neuropathy, myopathy, hoarseness, and hearing loss", "start": 23, "end": 84}}]}}, "schema": []}
{"input": "We, thus, analysed serum HE4 concentrations together with a tumour marker CA125 in serum samples of women diagnosed with various types of endometriosis, endometrial cancer or ovarian cancer, and in samples from healthy controls.", "output": {"entities": {"gene": [{"text": "HE4", "start": 25, "end": 28}], "disease": [{"text": "endometriosis", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We investigated mechanisms by which SIRT1 controls hepatic steatosis in mice.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 36, "end": 41}], "disease": [{"text": "hepatic steatosis", "start": 51, "end": 68}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 36, "end": 41}, "tail": {"text": "hepatic steatosis", "start": 51, "end": 68}}]}}, "schema": []}
{"input": "We administered a soluble form of VEGF receptor-expressing gene incorporated into adenovirus (AdVEGF-ExR) intraperitoneally to nude mice to which oral cancer cell lines (SAS, HSC-3, and Ca9-22) had been transplanted subcutaneously in vivo to inhibit angiogenesis and tumor proliferation.", "output": {"entities": {"gene": [{"text": "SAS", "start": 170, "end": 173}], "disease": [{"text": "oral cancer", "start": 146, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The positive rate and PKR score were significantly higher in papillary carcinoma (75 of 80, 94%, PKR score = 4. 47 +/-2. 17) than in nonpapillary carcinomas (2 of 6, 33%, PKR score = 1. 50 +/-2. 81).", "output": {"entities": {"gene": [{"text": "PKR", "start": 22, "end": 25}], "disease": [{"text": "carcinomas", "start": 146, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "It has already been suggested that beta-3 adrenergic (ADRB3) agonists might be of interest in the pharmacological management of preterm labor.", "output": {"entities": {"gene": [{"text": "beta-3", "start": 35, "end": 41}], "disease": [{"text": "preterm labor", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Q (2) ChIP of the transcription factor Oct4 demonstrates its dissociation from the NANOG promoter upon differentiation.", "output": {"entities": {"gene": [{"text": "Oct4", "start": 39, "end": 43}], "disease": [{"text": "dissociation", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Our results establish that central CRF is a key modulator of pain behavior and indicates that CRF effects on nociception are largely independent of its mood modulating effect as well as its control of the HPA axis.", "output": {"entities": {"gene": [{"text": "CRF", "start": 35, "end": 38}], "disease": [{"text": "pain", "start": 61, "end": 65}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CRF", "start": 35, "end": 38}, "tail": {"text": "pain", "start": 61, "end": 65}}]}}, "schema": []}
{"input": "In vitro, EAPP significantly reduced NF-κB activation and the levels of IL-1β and IL-8 mRNA and pro-survival proteins in HT-29 and HCT-116 colon cancer cells.", "output": {"entities": {"gene": [{"text": "EAPP", "start": 10, "end": 14}], "disease": [{"text": "colon cancer", "start": 139, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "In a subsequent candidate gene study based on the phenotypic similarity, we found that B3GALT6 is also responsible for a connective tissue disease, Ehlers-Danlos syndrome (progeroid form).", "output": {"entities": {"gene": [{"text": "B3GALT6", "start": 87, "end": 94}], "disease": [{"text": "Ehlers-Danlos syndrome (progeroid form", "start": 148, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "B3GALT6", "start": 87, "end": 94}, "tail": {"text": "Ehlers-Danlos syndrome (progeroid form", "start": 148, "end": 186}}]}}, "schema": []}
{"input": "These findings suggested that in the hypoxic/ischemic regions, VEGF and KDR expression is increased within the villous vessels by paracrine regulation, whereas the expression of PlGF and Flt-1 is enhanced in villous trophoblasts by autocrine regulation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 63, "end": 67}], "disease": [{"text": "hypoxic", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "DDX3 expression was investigated by immunohistochemistry in breast cancer in comparison with hypoxia related proteins HIF-1α, GLUT1, CAIX, EGFR, HER2, Akt1, FOXO4, p53, ERα, COMMD1, FER kinase, PIN1, E-cadherin, p21, p27, Transferrin receptor, FOXO3A, c-Met and Notch1.", "output": {"entities": {"gene": [{"text": "DDX3", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The benefit of annual MRI surveillance on reducing breast cancer mortality in BRCA1 mutation carriers remains to be proven.", "output": {"entities": {"gene": [{"text": "MRI", "start": 22, "end": 25}], "disease": [{"text": "breast cancer", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Although consistent evidence of association with any single variant was not seen across samples, SNP-wise and gene-based test results in the three samples provided convergent evidence for association with SLC22A16, a carnitine transporter, implicating this gene as a novel candidate for BPI risk.", "output": {"entities": {"gene": [{"text": "SLC22A16", "start": 205, "end": 213}], "disease": [{"text": "BPI", "start": 287, "end": 290}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC22A16", "start": 205, "end": 213}, "tail": {"text": "BPI", "start": 287, "end": 290}}]}}, "schema": []}
{"input": "Thus, in a random adult population with invasive pneumococcal infection, MBL does not seem to play a role in the pathophysiology, in contrast to earlier observations in patients with other concomitant immune abnormalities.", "output": {"entities": {"gene": [{"text": "MBL", "start": 73, "end": 76}], "disease": [{"text": "abnormalities", "start": 208, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin alpha2) and whose own aberrant post-translational modification is the common aetiological route of neuromuscular diseases associated with mutations in genes encoding at least six other proteins (POMT1, POMT2, POMGnT1, LARGE, FKTN and FKRP).", "output": {"entities": {"gene": [{"text": "LARGE", "start": 339, "end": 344}], "disease": [{"text": "neuromuscular diseases", "start": 220, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "It also showed that PKHD1 might be a major gene for CD.", "output": {"entities": {"gene": [{"text": "PKHD1", "start": 20, "end": 25}], "disease": [{"text": "CD", "start": 52, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PKHD1", "start": 20, "end": 25}, "tail": {"text": "CD", "start": 52, "end": 54}}]}}, "schema": []}
{"input": "We raise the possibility that the presence or absence of structural disorganization when mutant actin incorporates into sarcomeres may be an important determinant of whether the histological patterns of CFTD or NM develop in ACTA1 myopathy.", "output": {"entities": {"gene": [{"text": "ACTA1", "start": 225, "end": 230}], "disease": [{"text": "CFTD", "start": 203, "end": 207}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACTA1", "start": 225, "end": 230}, "tail": {"text": "CFTD", "start": 203, "end": 207}}]}}, "schema": []}
{"input": "Here we identify the downstream of tyrosine kinase (Dok) family members Dok1, Dok2 and Dok3 as lung tumor suppressors.", "output": {"entities": {"gene": [{"text": "Dok3", "start": 87, "end": 91}], "disease": [{"text": "lung tumor", "start": 95, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dok3", "start": 87, "end": 91}, "tail": {"text": "lung tumor", "start": 95, "end": 105}}]}}, "schema": []}
{"input": "Under hypoxic conditions, the expression of ADM was significantly elevated in a time-dependent manner in human bladder cancer cell lines.", "output": {"entities": {"gene": [{"text": "ADM", "start": 44, "end": 47}], "disease": [{"text": "hypoxic", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "We suggest that both soluble PAPP-A in ascites and tissue-associated PAPP-A serve to increase IGF bioactivity and, thereby, to stimulate IGF-IR-mediated tumor growth.", "output": {"entities": {"gene": [{"text": "IGF", "start": 94, "end": 97}], "disease": [{"text": "ascites", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "FUS was screened for mutations in familial and sporadic ALS cases.", "output": {"entities": {"gene": [{"text": "FUS", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "HIF-1alpha and hypoxia-induced vascular endothelial growth factor (VEGF) increase in cultured cells were greatly abolished by pSUPER (siHIF-1alpha).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 67, "end": 71}], "disease": [{"text": "hypoxia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Protease activated receptor-2 (PAR-2) has been implicated in cellular proliferation, invasion and metastasis in various tumors.", "output": {"entities": {"gene": [{"text": "PAR", "start": 31, "end": 34}], "disease": [{"text": "metastasis", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We conclude that myeloid lineage produced ephrin B1 is a negative regulator of bone resorption in vivo, and that activation of ephrin B1 reverse signaling inhibits osteoclast differentiation in vitro in part via a mechanism that involves inhibition of NFATc1 expression and modulation of phosphorylation status of ezrin/radixin/moesin.", "output": {"entities": {"gene": [{"text": "radixin", "start": 320, "end": 327}], "disease": [{"text": "bone resorption", "start": 79, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "To determine whether survivin inhibition induces cell death in neural tumor cells, survivin antisense oligonucleotides (SAO) were administered to a human neuroblastoma (MSN) and an oligodendroglioma (TC620) resulting in a dose-dependent reduction in survivin protein.", "output": {"entities": {"gene": [{"text": "MSN", "start": 169, "end": 172}], "disease": [{"text": "oligodendroglioma", "start": 181, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "We identified 13 common genes (ADARB2, CEACAM6, CNTNAP2, COL19A1, DEF4, DRAXIN, FCER2, HBG1, NCAPG2, PVRL2, SLC2A14, SNCA, and TCL1B) showing significant differential expression between G2019S-associated PD and asymptomatic carriers and also between idiopathic PD and controls but not between untreated and treated patients.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 48, "end": 55}], "disease": [{"text": "asymptomatic", "start": 211, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "DDX3 expression was investigated by immunohistochemistry in breast cancer in comparison with hypoxia related proteins HIF-1α, GLUT1, CAIX, EGFR, HER2, Akt1, FOXO4, p53, ERα, COMMD1, FER kinase, PIN1, E-cadherin, p21, p27, Transferrin receptor, FOXO3A, c-Met and Notch1.", "output": {"entities": {"gene": [{"text": "FOXO3A", "start": 244, "end": 250}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Women with mutations in BRCA1 or BRCA2 are at high risk of developing breast cancer and, in British Columbia, Canada, are offered screening with both magnetic resonance imaging (MRI) and mammography to facilitate early detection.", "output": {"entities": {"gene": [{"text": "MRI", "start": 178, "end": 181}], "disease": [{"text": "breast cancer", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Medullary sponge kidney (MSK) is a rare nephropathy characterized by cystic anomalies of precalyceal ducts, nephrocalcinosis, renal stones, and tubule dysfunctions.", "output": {"entities": {"gene": [{"text": "MSK", "start": 25, "end": 28}], "disease": [{"text": "nephropathy", "start": 40, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The distribution of JAK2 rs2203724 and STAT3 rs1053023 genotypes were in Hardy-Weinberg equilibrium (HWE) in both communities, while mild deviation from HWE was noted for rs1053004 in Tunisians but not Bahraini.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 20, "end": 24}], "disease": [{"text": "mild", "start": 133, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes.", "output": {"entities": {"gene": [{"text": "KRT10", "start": 88, "end": 93}], "disease": [{"text": "EI", "start": 52, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT10", "start": 88, "end": 93}, "tail": {"text": "EI", "start": 52, "end": 54}}]}}, "schema": []}
{"input": "There is a significant interaction between ACP1, body mass index, and blood lipid level.", "output": {"entities": {"gene": [{"text": "ACP1", "start": 43, "end": 47}], "disease": [{"text": "body mass index", "start": 49, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The association between TYRO3 and MERTK variants and carotid atherosclerosis found in this study reinforces a physiological role of the GAS6-TAM pathway in atherogenesis.", "output": {"entities": {"gene": [{"text": "MERTK", "start": 34, "end": 39}], "disease": [{"text": "atherogenesis", "start": 156, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "We also measured the expression of JMJD1A and two hypoxia factors glucose transporter 1 (GLUT1) and vascular endothelial growth factor (VEGF) in 786-0 and HEK293 cells treated with different concentrations of NiCl (2) (2. 5-100 μM) for 24 h, and found that JMJD1A mRNA and protein were up-regulated with increased concentrations of NiCl (2).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 136, "end": 140}], "disease": [{"text": "hypoxia", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The results of real-time PCR analyses showed that Ang1 is highly expressed in leukemia cell lines and primary AML cells with EVI1 (high) expression.", "output": {"entities": {"gene": [{"text": "Ang1", "start": 50, "end": 54}], "disease": [{"text": "leukemia", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "This study suggests that FTO may have an important role for gender specific development of severe obesity and insulin resistance in children.", "output": {"entities": {"gene": [{"text": "FTO", "start": 25, "end": 28}], "disease": [{"text": "insulin resistance", "start": 110, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal abnormalities commonly found are trisomy 12, del (13) (q14), del (11) (q22-23), del (17) (p13) and del (6) (q21).", "output": {"entities": {"gene": [{"text": "p13", "start": 102, "end": 105}], "disease": [{"text": "trisomy 12", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We identified a previously unknown downstream target of β-catenin, HAS2, in prostate cancer, and found that high β-catenin nuclear localization and low or no AR expression may define a subpopulation of men with bone metastatic prostate cancer.", "output": {"entities": {"gene": [{"text": "HAS2", "start": 67, "end": 71}], "disease": [{"text": "metastatic prostate cancer", "start": 216, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Integrin-linked kinase has a critical role in ErbB2 mammary tumor progression: implications for human breast cancer.", "output": {"entities": {"gene": [{"text": "Integrin-linked kinase", "start": 0, "end": 22}], "disease": [{"text": "mammary tumor", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "These results show: (1) a protective effect of-116A and K variants on juvenile obesity risk, suggesting a role for the BCHE gene on juvenile onset obesity different from that observed on adult onset obesity and (2) an association of the-116A variant with hypertriglyceridemia in obese adolescents probably because of its effect on lowering BChE activity and consequently diminishing the enzyme capability of maintaining homeostasis on lipid metabolism during the metabolic stress caused by obesity.", "output": {"entities": {"gene": [{"text": "BCHE", "start": 119, "end": 123}], "disease": [{"text": "hypertriglyceridemia", "start": 255, "end": 275}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCHE", "start": 119, "end": 123}, "tail": {"text": "hypertriglyceridemia", "start": 255, "end": 275}}]}}, "schema": []}
{"input": "The deletion of proline at alpha37 (C2) is predicted to result in severe instability of the variant hemoglobin, which on interaction with a synthesis-deficient alpha-thalassemia mutation causes a relatively severe dyserythropoietic anemia, representing an alternative phenotype associated with highly unstable alpha-chain variants.", "output": {"entities": {"gene": [{"text": "alpha-chain", "start": 310, "end": 321}], "disease": [{"text": "alpha-thalassemia", "start": 160, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "We included 111 consecutive cirrhotic patients hospitalized with ascites and we determined the presence of the TLR4 D299G polymorphism by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) and its relationship with the incidence of previous bacterial infections.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 111, "end": 115}], "disease": [{"text": "ascites", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Dual depletion of Mbnl1 and Mbnl3 therefore initiates both Clc-1 splice errors and translation defects to synergistically enhance myotonia.", "output": {"entities": {"gene": [{"text": "Mbnl3", "start": 28, "end": 33}], "disease": [{"text": "myotonia", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that, in bronchial epithelial cells, CSE promote a prevalent induction of pro-inflammatory BLT2 receptors and activate mechanisms leading to increased neutrophil adhesion, a mechanism that contributes to airway neutrophilia and to tissue damage.", "output": {"entities": {"gene": [{"text": "BLT2", "start": 114, "end": 118}], "disease": [{"text": "neutrophilia", "start": 234, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "We will perform the transmission/disequilibrium test (TDT) on candidate genes thought to be important in each of the four biological pathways of PTD: (1) decidual chorioamionotic inflammation: interleukin 1 (IL-1), IL-6, and tumour necrosis factor (TNF); (2) maternal and fetal stress: corticotropin-releasing hormone (CRH); (3) uteroplacental vascular lesions: methylenetereahydrofolate reductase (MTHFR); and (4) susceptibility to environmental toxins: GSTM1, GSTT1, CYP1A1, CYP2D6, CYP2E1, NAT2, NQO1, ALDH2, and EPHX.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 499, "end": 503}], "disease": [{"text": "inflammation", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We found that skin-infiltrating lymphocytes isolated from different benign and malignant skin lesions (n = 20) contain a high portion of CD7-helper T cells, whereas the number of CD7-T cells in the peripheral blood was not altered compared to healthy controls.", "output": {"entities": {"gene": [{"text": "CD7", "start": 137, "end": 140}], "disease": [{"text": "skin lesions", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We found a significant genotype effect (all P ≤ 0. 017) for the following smoking-related phenotypes: (i) cigarettes smoked per day and CYP2A13 * 3; (ii) pack years smoked and CYP2A6 * 2, CYP2A6 * 1 × 2, CYP2A13 * 7, CYP2B6 * 4 and DRD2-ANKK1 2137G > A (Taq1A); (iii) nicotine dependence (assessed with the Fagestrom test) and CYP2A6 * 9.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 232, "end": 236}], "disease": [{"text": "smoking", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "PDE3A mutations cause autosomal dominant hypertension with brachydactyly.", "output": {"entities": {"gene": [{"text": "PDE3A", "start": 0, "end": 5}], "disease": [{"text": "hypertension with brachydactyly", "start": 41, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDE3A", "start": 0, "end": 5}, "tail": {"text": "hypertension with brachydactyly", "start": 41, "end": 72}}]}}, "schema": []}
{"input": "The levels of various chemokines (MIP-1α, MCP-1, IL-8 and IP-10) and chemokine receptors (CXCR1, CXCR2 and CCR1) in neutrophils from healthy individuals and pulmonary tuberculosis patients were studied following infection with Mycobacterium tuberculosis strains (clinical--S7 and S10 and laboratory--H37Rv).", "output": {"entities": {"gene": [{"text": "CXCR1", "start": 90, "end": 95}], "disease": [{"text": "pulmonary tuberculosis", "start": 157, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "BCL2 translocation defines a unique tumor subset within the germinal center B-cell-like diffuse large B-cell lymphoma.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we also examined the effects of hypoxia on expression of nestin in human MSCs and examined a role for hypoxia inducible factor 1-alpha (HIF-1α) and vascular endothelial growth factor (VEGF) in the response.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 195, "end": 199}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Puerarin can effectively attenuate liver lipid disorder and inflammation by improving the leptin resistance and enhancing the expressions of leptin receptor mRNA and P-JAK2/P-STAT3 proteins.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 175, "end": 180}], "disease": [{"text": "lipid disorder", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "MMP-9/RECK imbalance during cervical inflammation induced by C. trachomatis might play a role in HPV-mediated cervical carcinogenesis.", "output": {"entities": {"gene": [{"text": "RECK", "start": 6, "end": 10}], "disease": [{"text": "inflammation", "start": 37, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, injection of SIRT1 lentivirus in the hippocampus of p25 transgenic mice conferred significant protection against neurodegeneration.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 26, "end": 31}], "disease": [{"text": "neurodegeneration", "start": 126, "end": 143}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 26, "end": 31}, "tail": {"text": "neurodegeneration", "start": 126, "end": 143}}]}}, "schema": []}
{"input": "Because the patient did not have any of the three mutations previously described in other Japanese patients with HHH syndrome, and the only material available from the patient was peripheral leukocytes, we established a genomic polymerase chain reaction method using intronic primers to amplify every exon of the ORNT1 gene, and we directly sequenced the polymerase chain reaction products.", "output": {"entities": {"gene": [{"text": "ORNT1", "start": 313, "end": 318}], "disease": [{"text": "HHH syndrome", "start": 113, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ORNT1", "start": 313, "end": 318}, "tail": {"text": "HHH syndrome", "start": 113, "end": 125}}]}}, "schema": []}
{"input": "Identification of a human VPF/VEGF 3' untranslated region mediating hypoxia-induced mRNA stability.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 30, "end": 34}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of TXS caused the cell death and apoptosis of lung cancer cells, likely via the elevation of the nuclear p27 since the TXS inhibition promoted the nuclear p27 level and the inhibition of p27 by its siRNA recovered the cell death induced by TXS inhibition.", "output": {"entities": {"gene": [{"text": "TXS", "start": 18, "end": 21}], "disease": [{"text": "lung cancer", "start": 61, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results demonstrate that KLF5 plays an important role in the control of SMC phenotype after vascular injury and suggest the feasibility of using Am80, delivered systemically and/or with a drug eluting stent, to prevent in-stent neointima formation.", "output": {"entities": {"gene": [{"text": "KLF5", "start": 47, "end": 51}], "disease": [{"text": "neointima formation", "start": 250, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KLF5", "start": 47, "end": 51}, "tail": {"text": "neointima formation", "start": 250, "end": 269}}]}}, "schema": []}
{"input": "In a multivariate logistic regression analysis including age, sex, smoking, diabetes, arterial hypertension and hypercholesterolemia, the FGG 10034 T variant was not significantly associated with the presence of PAD (Odds ratio 1. 07, 95% confidence interval 0. 84-1. 37; p = 0. 60).", "output": {"entities": {"gene": [{"text": "FGG", "start": 138, "end": 141}], "disease": [{"text": "hypercholesterolemia", "start": 112, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Serum samples collected from 446 patients, including 181 with chronic active hepatitis C, 50 with autoimmune chronic hepatitis, 117 in hemodialysis, 30 asymptomatic carriers of anti-HCV and 68 with indeterminate serology (RIBA indeterminate results), as well as from 121 controls were tested with the commercial, single-step assay and with nested polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 222, "end": 226}], "disease": [{"text": "autoimmune chronic hepatitis", "start": 98, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.", "output": {"entities": {"gene": [{"text": "AMISYN", "start": 17, "end": 23}], "disease": [{"text": "autism", "start": 51, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMISYN", "start": 17, "end": 23}, "tail": {"text": "autism", "start": 51, "end": 57}}]}}, "schema": []}
{"input": "Chronic infusion of enalaprilat into hypothalamic paraventricular nucleus attenuates angiotensin II-induced hypertension and cardiac hypertrophy by restoring neurotransmitters and cytokines.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 85, "end": 99}], "disease": [{"text": "cardiac hypertrophy", "start": 125, "end": 144}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 85, "end": 99}, "tail": {"text": "cardiac hypertrophy", "start": 125, "end": 144}}]}}, "schema": []}
{"input": "To determine whether this reduction extends to other brain regions, we measured the expression levels of BDNF, trkB-TK + and GAD67 mRNA in regions of the hippocampus, including the dentate gyrus (DG), cornu ammonis subfields (CA1-4), subiculum and entorhinal cortex (EC) of individuals with schizophrenia, bipolar disorder, major depression and unaffected controls.", "output": {"entities": {"gene": [{"text": "CA1", "start": 226, "end": 229}], "disease": [{"text": "bipolar disorder", "start": 306, "end": 322}]}, "relations": {}}, "schema": []}
{"input": "Neuroendocrine tumors (NET) represent potential targets of antifolate agents, but no data on TS expression level in these tumors are currently available.", "output": {"entities": {"gene": [{"text": "TS", "start": 93, "end": 95}], "disease": [{"text": "Neuroendocrine tumors", "start": 0, "end": 21}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TS", "start": 93, "end": 95}, "tail": {"text": "Neuroendocrine tumors", "start": 0, "end": 21}}]}}, "schema": []}
{"input": "Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.", "output": {"entities": {"gene": [{"text": "BIN1", "start": 61, "end": 65}], "disease": [{"text": "autosomal dominant centronuclear myopathy", "start": 12, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BIN1", "start": 61, "end": 65}, "tail": {"text": "autosomal dominant centronuclear myopathy", "start": 12, "end": 53}}]}}, "schema": []}
{"input": "While evaluating the abnormalities in alphaGC-induced immune responses, we observed that Sh2d1a-/-animals lacked NKT cells in the thymus and peripheral organs.", "output": {"entities": {"gene": [{"text": "Sh2d1a", "start": 89, "end": 95}], "disease": [{"text": "abnormalities", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-17A (IL-17A) and IL-17F play a role in tissue inflammation by inducing release of proinflammatory and neutrophil-mobilizing cytokines.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 29, "end": 35}], "disease": [{"text": "inflammation", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, a patient had also had a miscarriage during her first pregnancy. Gene testing revealed an heterozygous deletion spanning from the 5'-UTR to intron 4 of SPAST in the affected individuals and in one clinically unaffected woman.", "output": {"entities": {"gene": [{"text": "SPAST", "start": 167, "end": 172}], "disease": [{"text": "miscarriage", "start": 40, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The mutant LPLs, Asp156----Gly and Asp156----Gly/Ser447----Ter, were devoid of enzyme activity, indicating that the Asp156----Gly mutation is the underlying defect for the LPL deficiency in the two patients.", "output": {"entities": {"gene": [{"text": "LPL", "start": 11, "end": 14}], "disease": [{"text": "LPL deficiency", "start": 172, "end": 186}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 11, "end": 14}, "tail": {"text": "LPL deficiency", "start": 172, "end": 186}}]}}, "schema": []}
{"input": "This suggests that in contrast to VEGF Fas expression is not induced by ischemia/hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 34, "end": 38}], "disease": [{"text": "hypoxia", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Advanced colorectal cancer specimens (n = 97) were prepared for immunohistochemical staining using monoclonal antibodies against TP, p53, vascular endothelial growth factor (VEGF), factor VIII, CD68 and thymidylate synthase (TS).", "output": {"entities": {"gene": [{"text": "TP", "start": 129, "end": 131}], "disease": [{"text": "colorectal cancer", "start": 9, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TP", "start": 129, "end": 131}, "tail": {"text": "colorectal cancer", "start": 9, "end": 26}}]}}, "schema": []}
{"input": "Of 35 ALL patients, we found an incidence of 8. 6% of TEL/AML1 translocation in ALL patients (12% of B-lineage ALL), which is lower than that reported in caucasians but is similar to that reported in Japanese and Koreans.", "output": {"entities": {"gene": [{"text": "AML1", "start": 58, "end": 62}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Our findings unequivocally demonstrate that direct targeting of GRM1 is a necessary and highly specific driver event for CMF development.", "output": {"entities": {"gene": [{"text": "GRM1", "start": 64, "end": 68}], "disease": [{"text": "CMF", "start": 121, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GRM1", "start": 64, "end": 68}, "tail": {"text": "CMF", "start": 121, "end": 124}}]}}, "schema": []}
{"input": "These data provide evidence for an association between NOS3 and preeclampsia.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 55, "end": 59}], "disease": [{"text": "preeclampsia", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "X-linked CSNB patients may exhibit myopia, nystagmus, strabismus and ERG abnormalities of the Schubert-Bornschein type.", "output": {"entities": {"gene": [{"text": "ERG", "start": 69, "end": 72}], "disease": [{"text": "abnormalities", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in the circadian genes NPAS2, ARNTL, and RORA were also suggested to contribute to depression vulnerability.", "output": {"entities": {"gene": [{"text": "NPAS2", "start": 37, "end": 42}], "disease": [{"text": "depression", "start": 97, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS2", "start": 37, "end": 42}, "tail": {"text": "depression", "start": 97, "end": 107}}]}}, "schema": []}
{"input": "Tumours from an affected family member are usually pre-screened for microsatellite instability (MSI) and/or loss of immunohistochemical expression of mismatch repair (MMR) genes prior to germline MMR gene mutation testing.", "output": {"entities": {"gene": [{"text": "MMR", "start": 167, "end": 170}], "disease": [{"text": "microsatellite instability", "start": 68, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We suggest adding genetic analysis of FDX1L in cases of mitochondrial myopathy especially when associated with reduced activity of the respiratory chain complexes I, II and III.", "output": {"entities": {"gene": [{"text": "FDX1L", "start": 38, "end": 43}], "disease": [{"text": "mitochondrial myopathy", "start": 56, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FDX1L", "start": 38, "end": 43}, "tail": {"text": "mitochondrial myopathy", "start": 56, "end": 78}}]}}, "schema": []}
{"input": "Yeast two-hybrid cloning identified metastasis-associated GPI-anchored C4. 4a protein and extracellular alpha-dystroglycan (DAG-1) as binding partners for both hAG-2 and hAG-3, which if replicated in clinical oncology would demonstrate a potential role in tumour metastasis through the regulation of receptor adhesion and functioning.", "output": {"entities": {"gene": [{"text": "DAG", "start": 124, "end": 127}], "disease": [{"text": "adhesion", "start": 309, "end": 317}]}, "relations": {}}, "schema": []}
{"input": "Our strategy also can be broadly applied to induce sporadic in vivo loss of heterozygosity of any conditional alleles in progenitors that experience Notch1 activation.", "output": {"entities": {"gene": [{"text": "Notch1", "start": 149, "end": 155}], "disease": [{"text": "sporadic", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed 114 HLA DRB1 and 26 HLA-DQB1 alleles in 21 patients with anaphylactoid reactions caused by NSAIDs, 47 patients who had exclusively cutaneous reactions during single-blind, placebo-controlled oral challenges with NSAIDs, and 167 tolerant control subjects (29 of whom had also had an IgE-mediated anaphylaxis to different agents).", "output": {"entities": {"gene": [{"text": "HLA-DQB1", "start": 37, "end": 45}], "disease": [{"text": "blind", "start": 182, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Overall, these observations provide novel information on the mechanism of the EMT program in tumor progression and indicate CDH6 as a potential regulator of invasiveness in thyroid tumors.", "output": {"entities": {"gene": [{"text": "EMT", "start": 78, "end": 81}], "disease": [{"text": "tumor progression", "start": 93, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Several studies have evaluated in patients with colon cancer, either the role of genes involved in the 5-FU pathway, such as thymidylate synthase (TS), thymidine phosphorylase (TP) and dihydropyrimidine dehydrogenase (DPD) or the role of microsatellite instability (MSI) as prognostic or predictive markers for adjuvant chemotherapy efficacy, with discordant results.", "output": {"entities": {"gene": [{"text": "DPD", "start": 218, "end": 221}], "disease": [{"text": "microsatellite instability", "start": 238, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "In the t (14; 18) translocation bearing cell line SU-DHL-6, this results not only in an inappropriately high rate of bcl-2 transcription for a mature B cell, but also in two potentially critical point mutations.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 117, "end": 122}], "disease": [{"text": "translocation", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) chromosomal translocation of human follicular lymphoma recombines the bcl-2 gene from chromosome 18 with the immunoglobulin heavy chain joining region.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 85, "end": 95}], "disease": [{"text": "chromosomal translocation", "start": 15, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Although the protein for the HM74 receptor was unchanged, the protein for HM74A was significantly decreased in the schizophrenia group, both when normalized to GAPDH protein or to HM74 as an internal control for degradation and gel-loading error (0. 56-fold +/-0. 36, p = 0. 016 and 0. 58-fold +/-0. 19 the mean control value, p = 0. 001, respectively).", "output": {"entities": {"gene": [{"text": "HM74A", "start": 74, "end": 79}], "disease": [{"text": "schizophrenia", "start": 115, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HM74A", "start": 74, "end": 79}, "tail": {"text": "schizophrenia", "start": 115, "end": 128}}]}}, "schema": []}
{"input": "All the dehydrated hereditary stomatocytosis-associated mutations locate at C-terminal half of PIEZO1.", "output": {"entities": {"gene": [{"text": "PIEZO1", "start": 95, "end": 101}], "disease": [{"text": "dehydrated hereditary stomatocytosis", "start": 8, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIEZO1", "start": 95, "end": 101}, "tail": {"text": "dehydrated hereditary stomatocytosis", "start": 8, "end": 44}}]}}, "schema": []}
{"input": "Biopsy specimens (bone marrow and gastrointestinal mucosa) of a 69 year old woman with mild blood lymphocytosis and a history of urticaria pigmentosa-like skin lesions that had disappeared a few years earlier, were investigated immunohistochemically using antibodies against CD3, CD5, CD20, CD23, CD25, CD34, CD117, chymase, and tryptase.", "output": {"entities": {"gene": [{"text": "CD34", "start": 303, "end": 307}], "disease": [{"text": "mild", "start": 87, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Here, we found that genetic and pharmacological inactivation of pyruvate dehydrogenase A1 (PDHA1), a subunit of the pyruvate dehydrogenase complex (PDC), inhibits prostate cancer development in mouse and human xenograft tumor models by affecting lipid biosynthesis.", "output": {"entities": {"gene": [{"text": "PDHA1", "start": 91, "end": 96}], "disease": [{"text": "prostate cancer", "start": 163, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDHA1", "start": 91, "end": 96}, "tail": {"text": "prostate cancer", "start": 163, "end": 178}}]}}, "schema": []}
{"input": "In addition, \" knockdown \" of HIF-1alpha by RNA interference only minimally inhibited the hypoxic induction of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 111, "end": 115}], "disease": [{"text": "hypoxic", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Cox-regression survival analysis indicates that OTUB1 overexpression is linked to poorer outcome in particular in patients treated with chemotherapy.", "output": {"entities": {"gene": [{"text": "OTUB1", "start": 48, "end": 53}], "disease": [{"text": "regression", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Targeted disruption of the leukotriene B (4) receptor in mice reveals its role in inflammation and platelet-activating factor-induced anaphylaxis.", "output": {"entities": {"gene": [{"text": "leukotriene B (4) receptor", "start": 27, "end": 53}], "disease": [{"text": "anaphylaxis", "start": 134, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "leukotriene B (4) receptor", "start": 27, "end": 53}, "tail": {"text": "anaphylaxis", "start": 134, "end": 145}}]}}, "schema": []}
{"input": "Exonic, splice site, and untranslated regions of BMPR1A, BMPR2, and SMAD6 genes were sequenced in 90 unrelated sporadic cases of CVM.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 49, "end": 55}], "disease": [{"text": "sporadic", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "A regression model to predict warfarin dose from clinical variables and polymorphisms in CYP2C9, CYP4F2, and VKORC1: Derivation in a sample with predominantly a history of venous thromboembolism.", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 89, "end": 95}], "disease": [{"text": "regression", "start": 2, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "IAPP may also act as a hormone that antagonizes the effects of insulin on peripheral tissues, but the results with IAPP overproducing transgenic mice and other recent findings indicate that IAPP overproduction is unlikely to induce peripheral insulin resistance in NIDDM.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 0, "end": 4}], "disease": [{"text": "insulin resistance", "start": 243, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "To further explore the mechanism of TF-mediated metastasis, we investigated the possibility that a protease-activated receptor (PAR) might play a role.", "output": {"entities": {"gene": [{"text": "PAR", "start": 128, "end": 131}], "disease": [{"text": "metastasis", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The baseline renal function was reduced in RLIP76 (-/-) mice as compared with wild-type, but was unaffected by HFD, in marked contrast to severe renal impairment and glomerulopathy in the wild-type mice given HFD.", "output": {"entities": {"gene": [{"text": "RLIP76", "start": 43, "end": 49}], "disease": [{"text": "glomerulopathy", "start": 166, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Inherited mutations of the Fas/Apo1/CD95 gene, a cell-surface receptor involved in cell death signaling and in the control of self-reactivity, characterize the recently identified autoimmune lymphoproliferative syndromes.", "output": {"entities": {"gene": [{"text": "CD95", "start": 36, "end": 40}], "disease": [{"text": "autoimmune lymphoproliferative syndromes", "start": 180, "end": 220}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD95", "start": 36, "end": 40}, "tail": {"text": "autoimmune lymphoproliferative syndromes", "start": 180, "end": 220}}]}}, "schema": []}
{"input": "NER (plaque) (determined on inversion-recovery fast spin echo images) remained high (∼ 2) until 48 h after injection of CB2-R targeted micelles, whereas NER (plaque) decreased after 36 h in the control group.", "output": {"entities": {"gene": [{"text": "NER", "start": 0, "end": 3}], "disease": [{"text": "plaque", "start": 5, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "This may explain the milder leukemic phenotype in most patients with CML-N. A review of all 23 patients who had an e19/a2 type BCR/ABL translocation suggested that the low level of p230 BCR/ABL mRNA and the lack of detectable p230 BCR/ABL protein in patients with no additional cytogenetic abnormalities may predict their indolent clinical course.", "output": {"entities": {"gene": [{"text": "p230", "start": 181, "end": 185}], "disease": [{"text": "cytogenetic abnormalities", "start": 278, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics of mesenchymal tumors of gastrointestinal tract (GIT), 11 cases of KIT/PDGFRA wt GISTs, 12 gastric schwannomas (GSs), 20 solitary fibrous tumors (SFTs), 4 leiomyomas (LMs), 16 leiomyosarcomas (LMSs), 5 synovial sarcomas (SSs), 3 endometrioid stromal sarcomas (ESSs), and 1 ileal inflammatory myofibroblastic tumor (IMT) were investigated for SDHB immunoexpression together with molecular genetic analysis of genes encoding succinate dehydrogenase (SDH).", "output": {"entities": {"gene": [{"text": "ESSs", "start": 361, "end": 365}], "disease": [{"text": "tumors", "start": 116, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that polymorphisms of ABCA1 and ROS1 are determinants of blood pressure and the development of hypertension in Japanese individuals.", "output": {"entities": {"gene": [{"text": "ROS1", "start": 54, "end": 58}], "disease": [{"text": "blood pressure", "start": 79, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "This observation points to the possibility that deletion of 10q23-24 and loss or decreased expression of FIH-1 gene may lead to a constitutive activation of HIF-1 activity, an alteration of HIF-1 targets such as GLUT-1 and VEGF-A, and may contribute to the survival of cancer cells in hypoxia and the development of hypervascularization observed in GBM.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 223, "end": 229}], "disease": [{"text": "hypoxia", "start": 285, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "This study examines NT secretion, NT receptor and NT-growth responses in androgen-independent prostatic carcinoma (PC3) cells derived from prostate adenocarcinoma metastatic to bone.", "output": {"entities": {"gene": [{"text": "PC3", "start": 115, "end": 118}], "disease": [{"text": "prostate adenocarcinoma", "start": 139, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "An analysis of the expression of the 6 target genes in primary medulloblastoma tumor samples and cell lines revealed overexpression of LYK5 and PIK3CG.", "output": {"entities": {"gene": [{"text": "LYK5", "start": 135, "end": 139}], "disease": [{"text": "medulloblastoma", "start": 63, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LYK5", "start": 135, "end": 139}, "tail": {"text": "medulloblastoma", "start": 63, "end": 78}}]}}, "schema": []}
{"input": "The aim of this study was to determine (i) whether chemical blockade of stress-induced increase of colonic paracellular permeability by 2, 4, 6 triaminopyrimidine (TAP) affects the concomitant hypersensitivity to colonic distension, (ii) the role of epithelial cell contraction in the stress-induced increased permeability and hyperalgesia, using a myosin light chain kinase inhibitor (ML-7).", "output": {"entities": {"gene": [{"text": "myosin light chain kinase", "start": 349, "end": 374}], "disease": [{"text": "hypersensitivity", "start": 193, "end": 209}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "myosin light chain kinase", "start": 349, "end": 374}, "tail": {"text": "hypersensitivity", "start": 193, "end": 209}}]}}, "schema": []}
{"input": "Remarkably, the leukaemia at relapse was identified as a precursor-B-cell acute lymphoblastic leukaemia (B-ALL) by cytology and immunophenotyping, but was inv (16) (p13q22) positive as revealed by interphase FISH, FICTION analysis, and real-time quantitative PCR.", "output": {"entities": {"gene": [{"text": "FISH", "start": 208, "end": 212}], "disease": [{"text": "leukaemia", "start": 16, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, longitudinal audiologic assessment and precise vestibular testing are necessary for a better understanding of the mechanisms of hearing loss and vestibular dysfunction caused by GRXCR1 mutations.", "output": {"entities": {"gene": [{"text": "GRXCR1", "start": 191, "end": 197}], "disease": [{"text": "vestibular dysfunction", "start": 158, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "We next studied the association of HLA-B67 and-B52 with clinical characteristics: age at disease onset, distribution of arteritis, pulmonary involvement, aortic regurgitation, systemic hypertension, steroid resistance and recurrence rate in TA.", "output": {"entities": {"gene": [{"text": "B52", "start": 47, "end": 50}], "disease": [{"text": "arteritis", "start": 120, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "T3 isomers (2 micromol/L) inhibited hypoxia-induced VEGF secretion from DLD-1, with delta-T3 showing potent inhibition.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 52, "end": 56}], "disease": [{"text": "hypoxia", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "TMEM22", "start": 276, "end": 282}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TMEM22", "start": 276, "end": 282}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "In multivariate regression analysis, insulin resistance was significantly associated with LVMI in healthy relatives (P < 0. 01) and patients with PKD1 (P < 0. 05) independent of age, weight, systolic blood pressure, and albuminuria.", "output": {"entities": {"gene": [{"text": "PKD1", "start": 146, "end": 150}], "disease": [{"text": "insulin resistance", "start": 37, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Cross-sectional studies disclosed a marked increase of miR-140-5p, miR-142-3p, and miR-222 and decreased miR-423-5p, miR-125b, miR-192, miR-195, miR-130b, miR-532-5p, and miR-126 in T2D patients.", "output": {"entities": {"gene": [{"text": "miR-130b", "start": 145, "end": 153}], "disease": [{"text": "T2D", "start": 182, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-130b", "start": 145, "end": 153}, "tail": {"text": "T2D", "start": 182, "end": 185}}]}}, "schema": []}
{"input": "Further, the functional catechol-O-methyltransferase (COMT) Val158Met polymorphism interacted significantly with total CTQ abuse scores to impact perceived dissociation.", "output": {"entities": {"gene": [{"text": "COMT", "start": 54, "end": 58}], "disease": [{"text": "dissociation", "start": 156, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The more seriously affected patient had shorter height (125 cm), atlantoaxial instability associated with os odontoideum, flat feet, and cleft palate, absence of the femoral head on radiographic and magnetic resonance imaging (MRI), and dislocated proximal femur.", "output": {"entities": {"gene": [{"text": "MRI", "start": 227, "end": 230}], "disease": [{"text": "height", "start": 48, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Microarray analysis of vascular smooth muscle cells from WT and Id3 (-/-) mice revealed significant modulation of multiple gene pathways implicated in atherogenesis.", "output": {"entities": {"gene": [{"text": "Id3", "start": 64, "end": 67}], "disease": [{"text": "atherogenesis", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we found that several vascular risk factors and MRI-correlates of cerebrovascular disease were related to MCI in the general population.", "output": {"entities": {"gene": [{"text": "MRI", "start": 63, "end": 66}], "disease": [{"text": "cerebrovascular disease", "start": 81, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We investigated the effect of two polymorphisms in the beta2-AR gene: Gly16Arg and Gln27Glu for the risk of sporadic Late Onset Alzheimer' s Disease (LOAD) in 109 patients and 109 healthy controls matched for sex and age in a Han Chinese population.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 61, "end": 68}], "disease": [{"text": "sporadic", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.", "output": {"entities": {"gene": [{"text": "WDR19", "start": 0, "end": 5}], "disease": [{"text": "Senior-Loken syndrome", "start": 124, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WDR19", "start": 0, "end": 5}, "tail": {"text": "Senior-Loken syndrome", "start": 124, "end": 145}}]}}, "schema": []}
{"input": "Knockdown of Mp1 in invasive GCT cells resulted in resistance to differentiation, thereby showing a functional role for Mp1 both in normal differentiation of ES cells and in germ cell cancer.", "output": {"entities": {"gene": [{"text": "Mp1", "start": 13, "end": 16}], "disease": [{"text": "germ cell cancer", "start": 174, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD.", "output": {"entities": {"gene": [{"text": "PIH1D3", "start": 61, "end": 67}], "disease": [{"text": "PCD", "start": 94, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIH1D3", "start": 61, "end": 67}, "tail": {"text": "PCD", "start": 94, "end": 97}}]}}, "schema": []}
{"input": "The only case of SDC with anaplastic transformation showed PIK3CA p. H1047R mutation, whereas 1 of 2 PIK3CA p. E542K mutations was identified in SDC arising in a pleomorphic adenoma.", "output": {"entities": {"gene": [{"text": "SDC", "start": 17, "end": 20}], "disease": [{"text": "pleomorphic adenoma", "start": 162, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "The common aetiology for Dent' s disease, XRN and XLRH indicates that CLCN5 may be involved in other renal tubular disorders associated with kidney stones.", "output": {"entities": {"gene": [{"text": "CLCN5", "start": 70, "end": 75}], "disease": [{"text": "XRN", "start": 42, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLCN5", "start": 70, "end": 75}, "tail": {"text": "XRN", "start": 42, "end": 45}}]}}, "schema": []}
{"input": "We tested gene-environment interactions in 7610 women who developed breast cancer and 10 196 controls without the disease, studying the effects of 12 polymorphisms (FGFR2-rs2981582, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, 2p-rs4666451, 5p12-rs981782, CASP8-rs1045485, LSP1-rs3817198, 5q-rs30099, TGFB1-rs1982073, and ATM-rs1800054) in relation to prospectively collected information about ten established environmental risk factors (age at menarche, parity, age at first birth, breastfeeding, menopausal status, age at menopause, use of hormone replacement therapy, body-mass index, height, and alcohol consumption).", "output": {"entities": {"gene": [{"text": "ATM", "start": 345, "end": 348}], "disease": [{"text": "alcohol consumption", "start": 623, "end": 642}]}, "relations": {}}, "schema": []}
{"input": "In 127 COPD patients (mean FEV1 61%), pulmonary function, Fe (NO), plasma CRP and TNF-alpha, sputum differential cell counts and sputum IL8 (pg/ml) were measured.", "output": {"entities": {"gene": [{"text": "CRP", "start": 74, "end": 77}], "disease": [{"text": "pulmonary function", "start": 38, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In this study, we performed chromogenic in situ hybridization (CISH) and immunohistochemistry to evaluate for NF2 gene deletion in a group of sporadic meningiomas, schwannomas, and ependymomas.", "output": {"entities": {"gene": [{"text": "CISH", "start": 63, "end": 67}], "disease": [{"text": "schwannomas", "start": 164, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "NPL regression provided modest evidence of linkage to 13q33. 3 near D13S796 [log of the odds (LOD) = 1. 72], 9q34. 3 near D9S1826 (LOD = 1. 22), 4p15. 32 near D4S2639 (LOD = 1. 11) and 1q25. 1 near D1S1589 (LOD = 1. 01).", "output": {"entities": {"gene": [{"text": "NPL", "start": 0, "end": 3}], "disease": [{"text": "regression", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "NLK expression was analyzed in 121 NSCLCs and 92 normal lung tissue samples from benign pulmonary disease.", "output": {"entities": {"gene": [{"text": "NLK", "start": 0, "end": 3}], "disease": [{"text": "pulmonary disease", "start": 88, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Here, we report a 7-month-old girl, newly diagnosed with infantile HPP, who presented as a neonate with PRS but without bony abnormalities.", "output": {"entities": {"gene": [{"text": "HPP", "start": 67, "end": 70}], "disease": [{"text": "abnormalities", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation.", "output": {"entities": {"gene": [{"text": "FASLG", "start": 145, "end": 150}], "disease": [{"text": "autoimmune lymphoproliferative syndrome", "start": 87, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FASLG", "start": 145, "end": 150}, "tail": {"text": "autoimmune lymphoproliferative syndrome", "start": 87, "end": 126}}]}}, "schema": []}
{"input": "Furthermore, in the SG, the number of circulating Lin (-)/CD45 (-)/CD34 (+) VSELs and the S1P plasma level are the best predictors of risk and are proposed as novel markers for the first \" schizophrenic \" episode of psychosis.", "output": {"entities": {"gene": [{"text": "CD34", "start": 67, "end": 71}], "disease": [{"text": "psychosis", "start": 216, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD34", "start": 67, "end": 71}, "tail": {"text": "psychosis", "start": 216, "end": 225}}]}}, "schema": []}
{"input": "Regulation of Skp2-p27 axis by the Cdh1/anaphase-promoting complex pathway in colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "p27", "start": 19, "end": 22}], "disease": [{"text": "tumorigenesis", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "When analyzed with a Cox regression model, the PSF3 expression was an independent prognostic factor for overall survival.", "output": {"entities": {"gene": [{"text": "PSF3", "start": 47, "end": 51}], "disease": [{"text": "regression", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "The pathological fibrillar deposits found in the heart and other organs of patients with senile systemic amyloidosis (SSA) and Swedish familial amyloidotic polyneuropathy (FAP) contain wild-type (wt) and a mutant form of transthyretin (TTR), respectively.", "output": {"entities": {"gene": [{"text": "SSA", "start": 118, "end": 121}], "disease": [{"text": "polyneuropathy", "start": 156, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene.", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 127, "end": 150}], "disease": [{"text": "Generalized glucocorticoid resistance", "start": 0, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glucocorticoid receptor", "start": 127, "end": 150}, "tail": {"text": "Generalized glucocorticoid resistance", "start": 0, "end": 37}}]}}, "schema": []}
{"input": "Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.", "output": {"entities": {"gene": [{"text": "ATP1A3", "start": 123, "end": 129}], "disease": [{"text": "neurological manifestations", "start": 66, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We conducted a case-control study to investigate (1) the association of aryl hydrocarbon receptor (AHR) genetic variants and phase I metabolic enzymes with the risk of NTDs and (2) the interaction of these variants with maternal exposure to indoor air pollution from smoking and coal combustion or with placental polycyclic aromatic hydrocarbons (PAHs).", "output": {"entities": {"gene": [{"text": "AHR", "start": 99, "end": 102}], "disease": [{"text": "smoking", "start": 267, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "Osteonectin was isolated from conditioned media of several cell lines including breast cancer (MDA-MB-435, MDA-MB-468), osteoblasts (hFOB1. 19), non-neoplastic breast epithelial (hTERT-HME1), and vascular endothelial cells isolated from a bone biopsy (HBME-1).", "output": {"entities": {"gene": [{"text": "Osteonectin", "start": 0, "end": 11}], "disease": [{"text": "non-neoplastic", "start": 145, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The authors explored the influence of genetic polymorphisms at interleukin-1beta (IL-1B) and interleukin-1 receptor antagonist (IL-1RN) genes on these abnormalities.", "output": {"entities": {"gene": [{"text": "IL-1B", "start": 82, "end": 87}], "disease": [{"text": "abnormalities", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Based on anti-HCV seropositivity by RIBA-2 in acute hepatitis and/or during follow-up, a total of 22/45 patients with HNANB (48. 8%) were considered to have confirmed HCV infection.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 36, "end": 40}], "disease": [{"text": "acute hepatitis", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Recently, recessive mutations of the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some.", "output": {"entities": {"gene": [{"text": "DMR", "start": 195, "end": 198}], "disease": [{"text": "transient neonatal diabetes mellitus", "start": 79, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "T-bet expression in intratumoral lymphoid structures after neoadjuvant trastuzumab plus docetaxel for HER2-overexpressing breast carcinoma predicts survival.", "output": {"entities": {"gene": [{"text": "T-bet", "start": 0, "end": 5}], "disease": [{"text": "breast carcinoma", "start": 122, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.", "output": {"entities": {"gene": [{"text": "GCMB", "start": 0, "end": 4}], "disease": [{"text": "familial isolated hypoparathyroidism", "start": 17, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GCMB", "start": 0, "end": 4}, "tail": {"text": "familial isolated hypoparathyroidism", "start": 17, "end": 53}}]}}, "schema": []}
{"input": "Administration of warfarin inhibited mesangial and glomerular hypertrophy and the increase in GFR and albuminuria in STZ rats.", "output": {"entities": {"gene": [{"text": "STZ", "start": 117, "end": 120}], "disease": [{"text": "albuminuria", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Our findings now expand the phenotypes related to TPP1-variants to SCAR7.", "output": {"entities": {"gene": [{"text": "TPP1", "start": 50, "end": 54}], "disease": [{"text": "SCAR7", "start": 67, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPP1", "start": 50, "end": 54}, "tail": {"text": "SCAR7", "start": 67, "end": 72}}]}}, "schema": []}
{"input": "The present study was designed to examine the changes of MMP-2/TIMP-2 in the hearts of streptozotocin-induced diabetic rats and gain insight into their roles in extracellular matrix (ECM) remodelling on an experimental animal model of diabetic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "ECM", "start": 183, "end": 186}], "disease": [{"text": "diabetic cardiomyopathy", "start": 235, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Concentrations of soluble CD40 were comparable in patients with mild organ damage that included left ventricular hypertrophy, retinal damage, renal dysfunction and proteinuria.", "output": {"entities": {"gene": [{"text": "CD40", "start": 26, "end": 30}], "disease": [{"text": "proteinuria", "start": 164, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Activation of the aryl hydrocarbon receptor (AhR) protects adult and newborn mice against hyperoxic lung injury by mediating increases in the expression of phase I (cytochrome P450 (CYP) 1A) and phase II (NADP (H) quinone oxidoreductase (NQO1)) antioxidant enzymes (AOE).", "output": {"entities": {"gene": [{"text": "aryl hydrocarbon receptor", "start": 18, "end": 43}], "disease": [{"text": "lung injury", "start": 100, "end": 111}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "aryl hydrocarbon receptor", "start": 18, "end": 43}, "tail": {"text": "lung injury", "start": 100, "end": 111}}]}}, "schema": []}
{"input": "Doxorubicin-based therapy is not effective for the treatment of hepatocellular carcinomas (HCCs), which often undergo epithelial-mesenchymal transition (EMT) during tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 153, "end": 156}], "disease": [{"text": "tumor progression", "start": 165, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor A, secreted in response to transforming growth factor-β1 under hypoxic conditions, induces autocrine effects on migration of prostate cancer cells.", "output": {"entities": {"gene": [{"text": "Vascular endothelial growth factor A", "start": 0, "end": 36}], "disease": [{"text": "hypoxic", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Androgen receptor CAG repeat length polymorphism modifies the impact of testosterone on insulin sensitivity in men.", "output": {"entities": {"gene": [{"text": "Androgen receptor", "start": 0, "end": 17}], "disease": [{"text": "insulin sensitivity", "start": 88, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Androgen receptor", "start": 0, "end": 17}, "tail": {"text": "insulin sensitivity", "start": 88, "end": 107}}]}}, "schema": []}
{"input": "Toll-like receptor 4 polymorphisms and atherogenesis.", "output": {"entities": {"gene": [{"text": "Toll-like receptor 4", "start": 0, "end": 20}], "disease": [{"text": "atherogenesis", "start": 39, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Toll-like receptor 4", "start": 0, "end": 20}, "tail": {"text": "atherogenesis", "start": 39, "end": 52}}]}}, "schema": []}
{"input": "Improvements in the analytic sensitivity of HBsAg prototype assays allow the detection of additional HBV DNA-positive samples from donors with window period or occult infections compared to PRISM HBsAg.", "output": {"entities": {"gene": [{"text": "PRISM", "start": 190, "end": 195}], "disease": [{"text": "infections", "start": 167, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Multivariate survival analysis revealed that SPARCL1 was an independent prognostic factor in gastric adenocarcinoma patients with no metastasis and well/moderately differentiated.", "output": {"entities": {"gene": [{"text": "SPARCL1", "start": 45, "end": 52}], "disease": [{"text": "gastric adenocarcinoma", "start": 93, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.", "output": {"entities": {"gene": [{"text": "CKN1", "start": 0, "end": 4}], "disease": [{"text": "Cockayne syndrome type A", "start": 32, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CKN1", "start": 0, "end": 4}, "tail": {"text": "Cockayne syndrome type A", "start": 32, "end": 56}}]}}, "schema": []}
{"input": "New studies have indicated that biallelic mutations lead to a distinctive syndrome, childhood cancer syndrome (CCS), with haematological malignancies and tumours of brain and bowel early in childhood, often associated with signs of neurofibromatosis type 1.", "output": {"entities": {"gene": [{"text": "CCS", "start": 111, "end": 114}], "disease": [{"text": "neurofibromatosis type 1", "start": 232, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "A second polymorphism study, conducted on histamine-related genes, did not find any significant associations with aspirin-induced urticaria/angioedema for the genes HNMT (encoding histamine N-methyltransferase), HRH1 or HRH2 (encoding histamine receptor types 1 and 2 respectively), or the gene encoding high-affinity IgE receptor Ibeta (FcepsilonRIbeta); however, the FcepsilonRIalpha gene promoter polymorphism was significantly associated with aspirin-induced urticaria/angioedema.", "output": {"entities": {"gene": [{"text": "HRH2", "start": 220, "end": 224}], "disease": [{"text": "angioedema", "start": 140, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "TNF-1 (+/+) and TNF-2 (+/-and-/-) groups of subjects were comparable in sex, age, BMI, waist-to-hip ratio, and several skinfold measurements.", "output": {"entities": {"gene": [{"text": "TNF", "start": 0, "end": 3}], "disease": [{"text": "waist-to-hip ratio", "start": 87, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Topotecan-inhibitory effects on VEGF induction by hypoxia were mediated through suppression of both HIF-1alpha and HIF-2alpha protein accumulation and transactivation properties, which was specific and required ongoing RNA transcription.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 32, "end": 36}], "disease": [{"text": "hypoxia", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Here, we enrolled 364 cases of AML to assess the effect of TDT on OS by fractional polynomial regression in the context of clinical parameters and genes of FLT3ITD, NPM1, CEBPA, DNMT3a, and IDH1/2 mutations.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 171, "end": 176}], "disease": [{"text": "regression", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate an association between xerosis and asthma in men independent of atopic dermatitis and FLG mutations.", "output": {"entities": {"gene": [{"text": "FLG", "start": 108, "end": 111}], "disease": [{"text": "xerosis", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Thus, spondyloperipheral dysplasia and PLSD-T constitute a novel subfamily within the type II collagenopathies, associated with specific mutations in the C-propeptide domain and characterized by distinctive radiological features including metaphyseal changes and brachydactyly that set them apart from other type 2 collagenopathies associated with mutations in the triple-helical domain of COL2A1.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 390, "end": 396}], "disease": [{"text": "PLSD-T", "start": 39, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 390, "end": 396}, "tail": {"text": "PLSD-T", "start": 39, "end": 45}}]}}, "schema": []}
{"input": "Thus, SAMP1/Yit mice display gastritis as well as ileitis, and B cells appear to play a role in the pathogenesis of inflammation at both sites.", "output": {"entities": {"gene": [{"text": "SAMP1", "start": 6, "end": 11}], "disease": [{"text": "gastritis", "start": 29, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "We examined tumors of 104 unrelated clinically characterized colorectal cancer patients for causal mismatch repair (MMR) deficiency by several methods: microsatellite instability (MSI) and loss of heterozygosity (LOH) presence, MMR protein absence, hypermethylation of MLH1 promoter and germline mutation presence.", "output": {"entities": {"gene": [{"text": "MMR", "start": 116, "end": 119}], "disease": [{"text": "microsatellite instability", "start": 152, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that in hypoxic HCC cells, netrin-1 activates downstream signaling pathways to induce EMT activation with subsequent production of multiple inflammatory mediators which in turn promotes cancer invasion.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 49, "end": 57}], "disease": [{"text": "hypoxic", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "If not metabolized by 11beta-HSD1, activation of NNK by cytochrome p450 mono-oxidase 2D6 (CYP2D6) results in an electrophile intermediate responsible for DNA damage.", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 90, "end": 96}], "disease": [{"text": "mono", "start": 72, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "A molecular marker, human alpha-1-antitrypsin (hAAT) was transduced into tumor cells and its secretion was found to correlate with tumor growth or regression, allowing for an accurate and continuous measurement of tumor growth kinetics.", "output": {"entities": {"gene": [{"text": "alpha-1-antitrypsin", "start": 26, "end": 45}], "disease": [{"text": "regression", "start": 147, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that H. pylori GGT might be involved in the development of cancer in hepatobiliary cells by altering cell kinetics and promoting inflammation.", "output": {"entities": {"gene": [{"text": "GGT", "start": 33, "end": 36}], "disease": [{"text": "inflammation", "start": 147, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that the fragile X-associated tremor/ataxia syndrome-affected participants with poor declarative verbal memory would have pronounced abnormalities in the P600 repetition effect.", "output": {"entities": {"gene": [{"text": "P600", "start": 170, "end": 174}], "disease": [{"text": "abnormalities", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "PAP was overexpressed in 79% (30 of 38) of pancreatic ductal adenocarcinoma, 19% (7 of 36) of chronic pancreatitis, and 29% (2 of 7) of mucinous cystadenoma.", "output": {"entities": {"gene": [{"text": "PAP", "start": 0, "end": 3}], "disease": [{"text": "chronic pancreatitis", "start": 94, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "As a result, we found that DMH-treated animals were having over-expression of various pro-inflammatory cytokines (IL-1β, IL-2, and IFNγ), aberrant nuclear localization of activated cell survival transcription factors (NF-κB and Stat3) along with the increased incidence of activated angiogenic factors (MMP-2 and MMP-9) suggesting a marked role of inflammation in the tumor progression.", "output": {"entities": {"gene": [{"text": "DMH", "start": 27, "end": 30}], "disease": [{"text": "inflammation", "start": 348, "end": 360}]}, "relations": {}}, "schema": []}
{"input": "Moreover, when the Smad4 gene is ablated in combination with its DNA binding cofactor Foxl2 in gonadotrope cells, mice make essentially no FSH and females are sterile.", "output": {"entities": {"gene": [{"text": "Smad4 gene", "start": 19, "end": 29}], "disease": [{"text": "sterile", "start": 159, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The baseline mean levels of serum high-sensitivity C-reactive protein (hs-CRP), tumor necrosis factor-α (TNFα), plasma fibrinogen, urine 8-iso-prostaglandin F₂α (8-iso-PGF₂α), PON1 activity, flow-mediated dilation (FMD) and intima-media thickness (IMT) value did not significantly correlated with smoking habit in the patients and controls group.", "output": {"entities": {"gene": [{"text": "PON1", "start": 176, "end": 180}], "disease": [{"text": "dilation", "start": 205, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "In addition, extracellular regular protein kinase (ERK1/2) expression was downregulated and the adhesion ability to fibronectin was increased in 95D cells treated with the fusion protein, which was confirmed by cell adhesion assay.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 51, "end": 55}], "disease": [{"text": "adhesion", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "This report describes a man who has multiple adenomatous colon polyps, a gastric cancer, multiple colorectal cancers and sebaceous adenomas caused by biallelic MYH germline mutations.", "output": {"entities": {"gene": [{"text": "MYH", "start": 160, "end": 163}], "disease": [{"text": "sebaceous adenomas", "start": 121, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Thus, we suggest that although c-Myc is clearly important for the normal transcriptional control of the cad promoter, it is unlikely that increased levels of CAD are important mediators of c-Myc-induced neoplasia.", "output": {"entities": {"gene": [{"text": "c-Myc", "start": 31, "end": 36}], "disease": [{"text": "cad", "start": 104, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Our data provide new insight into the role of IL32 in HNSCC aggressiveness.", "output": {"entities": {"gene": [{"text": "IL32", "start": 46, "end": 50}], "disease": [{"text": "aggressiveness", "start": 60, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the frequency of allelic deletions and mutations of the recently identified MEN1 gene in 53 sporadic tumors including 30 EPT and 23 NET (carcinoids) of different locations and types.", "output": {"entities": {"gene": [{"text": "NET", "start": 144, "end": 147}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.", "output": {"entities": {"gene": [{"text": "IDH2", "start": 88, "end": 92}], "disease": [{"text": "Maffucci syndrome", "start": 19, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH2", "start": 88, "end": 92}, "tail": {"text": "Maffucci syndrome", "start": 19, "end": 36}}]}}, "schema": []}
{"input": "On the other hand, BCL2/adenovirus E1B 19-kDa interacting protein 3 (BNIP3) is overexpressed in various tumors, including prostate cancer, and may transcriptionally repress the apoptosis-inducing factor (AIF) gene.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 69, "end": 74}], "disease": [{"text": "adenovirus", "start": 24, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "When expression of RUNX3 was recovered using epigenetic reagents the expressions of HIF-1α and VEGF were clearly suppressed under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 95, "end": 99}], "disease": [{"text": "hypoxic", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "However, CDX2 expression levels were strongly associated with microsatellite instability and tumor location in the gastrointestinal tract, consistent with a possible role in the specification of gastrointestinal epithelial cell fate in humans.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 9, "end": 13}], "disease": [{"text": "microsatellite instability", "start": 62, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The role that CLU plays in tumorigenesis is still unclear.", "output": {"entities": {"gene": [{"text": "CLU", "start": 14, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Administration of GSPE to the MIA-treated rats significantly increased the PWL and PWT and this resulted in recovery of hind paw weight distribution (P < 0. 05).", "output": {"entities": {"gene": [{"text": "MIA", "start": 30, "end": 33}], "disease": [{"text": "weight", "start": 129, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "To determine the incidence of doublecortin mutations in DC, we investigated a cohort of eight pedigrees and 47 sporadic patients with DC for mutations in the doublecortin open reading frame as assessed by single-stranded conformational polymorphism analysis.", "output": {"entities": {"gene": [{"text": "doublecortin", "start": 30, "end": 42}], "disease": [{"text": "sporadic", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myopathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dystrophy 2J (LGMD2J).", "output": {"entities": {"gene": [{"text": "MIM", "start": 184, "end": 187}], "disease": [{"text": "distal myopathy", "start": 135, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Previous studies have demonstrated that miR-122 plays a role in inflammation in the liver and functions in hepatic stellate cells (HSCs), which reside in the space of Disse.", "output": {"entities": {"gene": [{"text": "miR-122", "start": 40, "end": 47}], "disease": [{"text": "inflammation", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The noncompetitive antagonist mecamylamine does not suppress the DAC, although it suppresses high-dose nicotine-induced wild-type-like seizures.", "output": {"entities": {"gene": [{"text": "DAC", "start": 65, "end": 68}], "disease": [{"text": "seizures", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Expression of an activated mammalian target of rapamycin in adenocarcinoma of the cervix: A potential biomarker and molecular target therapy.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 27, "end": 56}], "disease": [{"text": "adenocarcinoma", "start": 60, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mammalian target of rapamycin", "start": 27, "end": 56}, "tail": {"text": "adenocarcinoma", "start": 60, "end": 74}}]}}, "schema": []}
{"input": "For rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and osteoarthritis diseases, those common factors include TNFSF10, CX3CR1, LY96, TLR5, TXN, TIA1, PRKCH, and PRF1.", "output": {"entities": {"gene": [{"text": "TXN", "start": 166, "end": 169}], "disease": [{"text": "spondylitis", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The change in the levels of epidermal growth factor receptor mRNA in post-compared with pretreatment specimens was significantly associated with the histopathologic grade of regression (p = 0. 01).", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 28, "end": 60}], "disease": [{"text": "regression", "start": 174, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "This is the first report, to our knowle dge, that identifies SDHA inactivation as a common oncogenic event in GISTs that lack a mutation in KIT and PDGFRA.", "output": {"entities": {"gene": [{"text": "SDHA", "start": 61, "end": 65}], "disease": [{"text": "GIST", "start": 110, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHA", "start": 61, "end": 65}, "tail": {"text": "GIST", "start": 110, "end": 114}}]}}, "schema": []}
{"input": "In the adolescent sample, FTO (rs1121980) was associated with change to overweight at adulthood in the combined male-female sample (OR: 1. 27, 95% CI: 1. 09-1. 49, P = 3. 0x10 (-3), adj.", "output": {"entities": {"gene": [{"text": "FTO", "start": 26, "end": 29}], "disease": [{"text": "overweight", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In this study, we first analyzed the expression and regulation of TM9SF4 in normal and leukemic cells and identified TM9SF4 as a gene highly expressed in human quiescent CD34 + hematopoietic progenitor cells (HPCs), regulated during monocytic and granulocytic differentiation of HPCs, both lineages giving rise to mature myeloid cells involved in adhesion, phagocytosis and immunity.", "output": {"entities": {"gene": [{"text": "TM9SF4", "start": 66, "end": 72}], "disease": [{"text": "adhesion", "start": 347, "end": 355}]}, "relations": {}}, "schema": []}
{"input": "IKBB is silenced in the majority of NPC tumor tissues in all stages.", "output": {"entities": {"gene": [{"text": "IKBB", "start": 0, "end": 4}], "disease": [{"text": "tumor", "start": 40, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 119, "end": 124}], "disease": [{"text": "MASA syndrome", "start": 27, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L1CAM", "start": 119, "end": 124}, "tail": {"text": "MASA syndrome", "start": 27, "end": 40}}]}}, "schema": []}
{"input": "The robust upregulation of Klk6 and Klk8 in the brain during the acute phase of viral encephalitis and in the spinal cord during disease development and progression points to their participation in inflammation, demyelination, and progressive axon degeneration.", "output": {"entities": {"gene": [{"text": "Klk6", "start": 27, "end": 31}], "disease": [{"text": "demyelination", "start": 212, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "In Saudi Arabia, the epidemiology and clinical significance of Torque Teno virus (TTV) infection alone and in patients with hepatitis virus infections have not been determined in a single study.", "output": {"entities": {"gene": [{"text": "TTV", "start": 82, "end": 85}], "disease": [{"text": "virus infections", "start": 134, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that miR-10b may play an important role in NF1 tumorigenesis through targeting neurofibromin and RAS signaling.", "output": {"entities": {"gene": [{"text": "neurofibromin", "start": 101, "end": 114}], "disease": [{"text": "tumorigenesis", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Recently, inheritable skeletal dysplasia caused by novel COL2A1 mutations has been linked to an inherited disease of the hip joint that neither involves the entire skeletal system nor is characterized by the presence of concomitant disorders, such as spinal or ocular abnormalities.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 57, "end": 63}], "disease": [{"text": "abnormalities", "start": 268, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "Children with lobar pneumonia with or without effusion showed significantly higher levels of serum VEGF than children with bronchopneumonia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 99, "end": 103}], "disease": [{"text": "lobar pneumonia", "start": 14, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "The treatment was rapidly effective paralleled by the immediate fall of the C-reactive protein and serum amyloid A protein.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 76, "end": 94}], "disease": [{"text": "fall", "start": 64, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The independent prognostic value of baseline FDG uptake was demonstrated in multivariate analysis (p = 0. 05, Cox regression).", "output": {"entities": {"gene": [{"text": "FDG", "start": 45, "end": 48}], "disease": [{"text": "regression", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Gene silencing of HIF-1alpha prevented G6PT and VEGF induction in hypoxic MSCs whereas generation of cells stably expressing HIF-1alpha resulted in increased endogenous G6PT gene expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 48, "end": 52}], "disease": [{"text": "hypoxic", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In selected individuals, cell surface HLA-DR peripheral B-cell expression was correlated with HLA-DRB1 genotype and atopic status.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 94, "end": 102}], "disease": [{"text": "atopic", "start": 116, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Finally, we show that interference with the HH-GLI pathway through lentiviral-mediated silencing of SMO and GLI1 drastically diminishes tumor initiation of ALDH (high) melanoma stem cells.", "output": {"entities": {"gene": [{"text": "SMO", "start": 100, "end": 103}], "disease": [{"text": "tumor initiation", "start": 136, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We have identified recessive mutations in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.", "output": {"entities": {"gene": [{"text": "ANO5", "start": 42, "end": 46}], "disease": [{"text": "LGMD2L", "start": 105, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ANO5", "start": 42, "end": 46}, "tail": {"text": "LGMD2L", "start": 105, "end": 111}}]}}, "schema": []}
{"input": "The utility of PCI for the delivery of the GFP reporter gene on the same plasmid as a tumor suppressor gene (PTEN) was investigated in monolayers of U251 human glioma cells and muticell U87 glioma spheroids.", "output": {"entities": {"gene": [{"text": "U87", "start": 186, "end": 189}], "disease": [{"text": "glioma", "start": 160, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "In contrast, almost all cases of diffuse large B-cell lymphoma and most cases of anaplastic large cell lymphoma, neoplasms that may be confused with Hodgkin' s lymphoma, are negative for T-bet.", "output": {"entities": {"gene": [{"text": "T-bet", "start": 187, "end": 192}], "disease": [{"text": "large cell lymphoma", "start": 92, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "This indicates that neomutations into the RyR1 gene are not a rare event and must be taken into account for genetic studies of families that present with congenital myopathies type' central core disease'.", "output": {"entities": {"gene": [{"text": "RyR1", "start": 42, "end": 46}], "disease": [{"text": "central core disease", "start": 182, "end": 202}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RyR1", "start": 42, "end": 46}, "tail": {"text": "central core disease", "start": 182, "end": 202}}]}}, "schema": []}
{"input": "In 12 of 13 patients and all 9 polyps from Min mice, the MAT2A messenger RNA levels were 200%-340% of levels in adjacent normal tissues, respectively.", "output": {"entities": {"gene": [{"text": "MAT2A", "start": 57, "end": 62}], "disease": [{"text": "polyps", "start": 31, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Cyclin A1 plays a critical role in hematopoietic malignancies, notably, acute myeloid leukemia.", "output": {"entities": {"gene": [{"text": "Cyclin A1", "start": 0, "end": 9}], "disease": [{"text": "hematopoietic malignancies", "start": 35, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c. 210T & gt; A) in the transthyretin gene.", "output": {"entities": {"gene": [{"text": "transthyretin", "start": 21, "end": 34}], "disease": [{"text": "transthyretin amyloidosis", "start": 21, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "transthyretin", "start": 21, "end": 34}, "tail": {"text": "transthyretin amyloidosis", "start": 21, "end": 46}}]}}, "schema": []}
{"input": "Aberrant methylation of Reprimo with loss of expression is a common event and may contribute to the pathogenesis of some types of human malignancy.", "output": {"entities": {"gene": [{"text": "Reprimo", "start": 24, "end": 31}], "disease": [{"text": "malignancy", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Nonketotic hyperglycinemia (NKH) is an autosomal recessive metabolic disorder caused by the defects in the glycine cleavage system (GCS; EC 2. 1. 2. 10), a multienzyme system that consists of four individual components.", "output": {"entities": {"gene": [{"text": "Nonketotic hyperglycinemia", "start": 0, "end": 26}], "disease": [{"text": "NKH", "start": 28, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Nonketotic hyperglycinemia", "start": 0, "end": 26}, "tail": {"text": "NKH", "start": 28, "end": 31}}]}}, "schema": []}
{"input": "However, CD10-MUM1 + FLs were encountered frequently in the elderly compared with CD10 + MUM1-typical FLs (67. 0 versus 58. 7 years, P <. 01), showed high grade (grade 3A or 3B) morphology (91% versus 17%, P <. 001), diffuse proliferation (59% vs 19%, P <. 001), and lacked BCL2/IGH translocation (5% versus 92. 5%, P <. 001), which is the most characteristic aberration in FL, and 88% showed BCL6 gene abnormalities (translocation or amplification).", "output": {"entities": {"gene": [{"text": "BCL2", "start": 274, "end": 278}], "disease": [{"text": "translocation", "start": 283, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "Hemophilia A is an X-linked bleeding disease caused by mutations in the coagulation factor VIII gene.", "output": {"entities": {"gene": [{"text": "coagulation factor VIII", "start": 72, "end": 95}], "disease": [{"text": "Hemophilia A", "start": 0, "end": 12}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor VIII", "start": 72, "end": 95}, "tail": {"text": "Hemophilia A", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1.", "output": {"entities": {"gene": [{"text": "SEPN1", "start": 93, "end": 98}], "disease": [{"text": "CFTD", "start": 0, "end": 4}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEPN1", "start": 93, "end": 98}, "tail": {"text": "CFTD", "start": 0, "end": 4}}]}}, "schema": []}
{"input": "Centrally administered NPY causes robust increases in food intake and body weight and, with chronic administration, can eventually produce obesity.", "output": {"entities": {"gene": [{"text": "NPY", "start": 23, "end": 26}], "disease": [{"text": "body weight", "start": 70, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Hypervascularization is induced by overexpression of vascular endothelial growth factor (VEGF), and because the principal function of VHL protein is the negative regulation of hypoxia-inducible mRNAs including VEGF mRNA, inactivation of VHL gene plays critical roles in angiogenesis of the VHL tumors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 89, "end": 93}], "disease": [{"text": "hypoxia", "start": 176, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "When comparing 1p-deleted tumors of all stages to tumors with an intact 1p, a significant difference at gene-by-gene level in TNFRSF9, RERE, PIK3CD, CLSTN1, CTNNBIP1, and CASZ1 was detected.", "output": {"entities": {"gene": [{"text": "CLSTN1", "start": 149, "end": 155}], "disease": [{"text": "tumors", "start": 26, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "This work will greatly improve K16 mutation analysis and allow predictive testing for PC-1 and the related phenotype of FNEPPK.", "output": {"entities": {"gene": [{"text": "FNEPPK", "start": 120, "end": 126}], "disease": [{"text": "PC-1", "start": 86, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FNEPPK", "start": 120, "end": 126}, "tail": {"text": "PC-1", "start": 86, "end": 90}}]}}, "schema": []}
{"input": "Patients with thrombocytopenia 5 have an autosomal dominant disorder of decreased platelet number with tendency to bleed, usually presenting in childhood, and have been found to have germline mutations in ETV6, which encodes a master hematopoietic transcription factor.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 205, "end": 209}], "disease": [{"text": "thrombocytopenia 5", "start": 14, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ETV6", "start": 205, "end": 209}, "tail": {"text": "thrombocytopenia 5", "start": 14, "end": 32}}]}}, "schema": []}
{"input": "BRAF V600E mutation was analyzed in CRC patients with MMR deficiencies (microsatellite instability and/or lack of MLH1/MSH2 protein expression) in the EPICOLON population-based study.", "output": {"entities": {"gene": [{"text": "MMR", "start": 54, "end": 57}], "disease": [{"text": "microsatellite instability", "start": 72, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "4-HNE immunoreactivity was assessed semi-quantitatively in the temporal lobe of a group of controls (n = 44) and in a group of patients who had an episode of global ischemia as a result of a cardiorespiratory arrest and subsequently died (n = 56, survival ranged from 1hr to 42 days).", "output": {"entities": {"gene": [{"text": "HNE", "start": 2, "end": 5}], "disease": [{"text": "cardiorespiratory arrest", "start": 191, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy characterized by CD4 and CD56 coexpression without apparent lineage commitment.", "output": {"entities": {"gene": [{"text": "CD4", "start": 103, "end": 106}], "disease": [{"text": "hematologic malignancy", "start": 63, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the number of HLA-G-positive mast cells was significantly associated with fibrosis progression.", "output": {"entities": {"gene": [{"text": "HLA-G", "start": 27, "end": 32}], "disease": [{"text": "fibrosis", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We did not detect any association between the RFC-1 c. 80A--> G polymorphism and placental abruption, nor was an association between plasma folate and abruption risk evident.", "output": {"entities": {"gene": [{"text": "RFC", "start": 46, "end": 49}], "disease": [{"text": "placental abruption", "start": 81, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that mutations in FUS/TLS are not a major cause of sporadic ALS in the German population.", "output": {"entities": {"gene": [{"text": "TLS", "start": 43, "end": 46}], "disease": [{"text": "sporadic", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Regional myocardial function, assessed by subendocardial segment shortening in the infarct region, was increased in Hsp90-transfected animals at baseline and after pacing.", "output": {"entities": {"gene": [{"text": "Hsp90", "start": 116, "end": 121}], "disease": [{"text": "infarct", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we analyzed the AR gene in 8 patients, 4 sporadic and 2 familial cases with the syndrome, using exon-specific polymerase chain reaction, single-stranded conformational polymorphism and sequencing analysis and identified six new single base mutations, including one nonsense mutation at the hinge region of the receptor.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 38, "end": 45}], "disease": [{"text": "sporadic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these data demonstrate a selective and robust reduction in anxiety-and depression-related behavior in NMDA receptor NR2A subunit KO mice.", "output": {"entities": {"gene": [{"text": "NR2A", "start": 132, "end": 136}], "disease": [{"text": "depression", "start": 87, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR2A", "start": 132, "end": 136}, "tail": {"text": "depression", "start": 87, "end": 97}}]}}, "schema": []}
{"input": "Despite the small number of examined patients and the need for replication studies, these findings support the hypothesis that diagnostic screening for LGI1 microrearrangements lacks clinical utility, especially for sporadic cases, and further highlight genetic heterogeneity of familial and sporadic PEAF.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 152, "end": 156}], "disease": [{"text": "sporadic", "start": 216, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "We analyzed Melanocortin 2 receptor (MC2R), Androgen Receptor (AR), Leptin (LEP), and Steroidogenic factor 1 (SF1) expression using real-time qRT-PCR in two giant bilateral adrenal myelolipomas from two untreated simple virilizing CAH cases and in two sporadic adrenal myelolipomas.", "output": {"entities": {"gene": [{"text": "SF1", "start": 110, "end": 113}], "disease": [{"text": "giant", "start": 157, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "BPA upregulated clusterin expression in atrophic prostate epithelial cells and induced lipid peroxidation and DNA fragmentation in spermatozoa.", "output": {"entities": {"gene": [{"text": "clusterin", "start": 16, "end": 25}], "disease": [{"text": "atrophic", "start": 40, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "clusterin", "start": 16, "end": 25}, "tail": {"text": "atrophic", "start": 40, "end": 48}}]}}, "schema": []}
{"input": "Because leukotriene B (4) (LTB (4)), a 5-lipoxygenase metabolite of arachidonic acid in neutrophils, is a chemoattractant and enhances neutrophil adhesion to endothelium, we assessed plasma levels of this metabolite in controls (n = 9) and individuals with SCD, SS genotype, both in basal \" steady state \" (n = 37) and during episodes of vaso-occlusion (n = 10) and acute chest syndrome (n = 5).", "output": {"entities": {"gene": [{"text": "LTB", "start": 27, "end": 30}], "disease": [{"text": "adhesion", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "DNA aneuploidy is observed in various human tumors and is associated with the abnormal expression of spindle assembly checkpoint (SAC) proteins.", "output": {"entities": {"gene": [{"text": "SAC", "start": 130, "end": 133}], "disease": [{"text": "aneuploidy", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "The rho-associated coiled-coil protein kinase 2 (ROCK2) gene has been suggested to associate with general hypertension and is therefore a plausible functional candidate gene for pre-eclampsia.", "output": {"entities": {"gene": [{"text": "ROCK2", "start": 49, "end": 54}], "disease": [{"text": "pre-eclampsia", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Down-regulation of TREM2 in two glioma cell lines, U87 and U373, resulted in a significant reduction in cell proliferation, migration and invasion and a dramatic increase in S phase arrest and apoptosis.", "output": {"entities": {"gene": [{"text": "U87", "start": 51, "end": 54}], "disease": [{"text": "glioma", "start": 32, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Intermittent administration of parathyroid hormone (PTH) dramatically increases bone mass and currently is one of the most effective treatments for osteoporosis.", "output": {"entities": {"gene": [{"text": "PTH", "start": 52, "end": 55}], "disease": [{"text": "bone mass", "start": 80, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "No significant differences in mRNA levels of c-fos, N-myc, N-ras, Ha-ras, c-erbA, c-erbB and c-abl were observed among the HCC, cirrhosis and normal-chronic hepatitis groups.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 52, "end": 57}], "disease": [{"text": "cirrhosis", "start": 128, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Previously detected associations between single-nucleotide polymorphisms at the TAP2 locus and sarcoidosis were shown to be due to linkage disequilibrium with the HLA-DR locus.", "output": {"entities": {"gene": [{"text": "TAP2", "start": 80, "end": 84}], "disease": [{"text": "sarcoidosis", "start": 95, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We conclude that NRF2 is required to adapt the levels of SNAT3 in response to metabolic acidosis.", "output": {"entities": {"gene": [{"text": "NRF2", "start": 17, "end": 21}], "disease": [{"text": "metabolic acidosis", "start": 78, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRF2", "start": 17, "end": 21}, "tail": {"text": "metabolic acidosis", "start": 78, "end": 96}}]}}, "schema": []}
{"input": "Deletions encompassing the BP1-2 region at 15q11. 2 increase schizophrenia and epilepsy risk, but only some carriers have either disorder.", "output": {"entities": {"gene": [{"text": "BP1", "start": 27, "end": 30}], "disease": [{"text": "epilepsy", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Human glioblastoma cell lines U118 and U138 also showed hypoxia-induction of AMPKalpha2 as well as VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 99, "end": 103}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal translocation resulting in abnormal expression of the LAZ3/BCL6 gene in B cells has been implicated in the tumorigenesis of non-Hodgkin lymphoma (NHL).", "output": {"entities": {"gene": [{"text": "BCL6 gene", "start": 71, "end": 80}], "disease": [{"text": "tumorigenesis", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Extracellular translocation of the polysaccharide, hyaluronan (HA) has been thought to be mediated via its transmembrane synthetic enzyme, hyaluronan synthase (HAS) but recent studies have indicated that the ATP-Binding-Cassette (ABC) transporter, MRP5 contributes to this process.", "output": {"entities": {"gene": [{"text": "MRP5", "start": 248, "end": 252}], "disease": [{"text": "translocation", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Together, our results suggest that polymorphisms or haplotypes of the EGFR play an important role in the development of lung cancer in Taiwan, particularly in never-smoking female lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 70, "end": 74}], "disease": [{"text": "smoking", "start": 165, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that C771G polymorphism of MLXIPL gene is associated with stenosis and its severity.", "output": {"entities": {"gene": [{"text": "MLXIPL gene", "start": 49, "end": 60}], "disease": [{"text": "stenosis", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We provide an overview of what is known about TDP-43 in AD, normal aging and in other disorders and suggest that TDP-43 proteinopathies be considered in two classes-primary and secondary.", "output": {"entities": {"gene": [{"text": "TDP-43", "start": 46, "end": 52}], "disease": [{"text": "aging", "start": 67, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our results suggest that SREBP-2 plays a critical role in regulating osteoclastogenesis and contributes to breast cancer-induced osteolysis.", "output": {"entities": {"gene": [{"text": "SREBP-2", "start": 39, "end": 46}], "disease": [{"text": "breast cancer", "start": 121, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SREBP-2", "start": 39, "end": 46}, "tail": {"text": "breast cancer", "start": 121, "end": 134}}]}}, "schema": []}
{"input": "To investigate the correlations between polymorphisms of human leukocyte antigen (HLA)-A, HLA-B and HLA-DRB1 alleles and childhood susceptibility to aplastic anemia (AA), 80 children with AA were investigated.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 100, "end": 108}], "disease": [{"text": "anemia", "start": 158, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families.", "output": {"entities": {"gene": [{"text": "p63", "start": 17, "end": 20}], "disease": [{"text": "AEC syndrome", "start": 24, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p63", "start": 17, "end": 20}, "tail": {"text": "AEC syndrome", "start": 24, "end": 36}}]}}, "schema": []}
{"input": "Hypoxia (1% O (2)) or treatment with hypoxia-mimicking CoCl (2) enhanced RSUME and HIF-1α expression, induced translocation of HIF-1α to the nuclei and stimulated VEGF-A production both in pituitary tumour cell lines and primary human pituitary adenoma cell cultures.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 83, "end": 89}], "disease": [{"text": "translocation", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Data were compared to results obtained by FISH and were consistent in 10 of 13 (77%) tumors with deletion 1p, 18 of 20 (90%) with deletion 11q, 12 of 12 (100%) with MYCN amplification, and 146 of 151 (97%) samples without any aberration.", "output": {"entities": {"gene": [{"text": "FISH", "start": 42, "end": 46}], "disease": [{"text": "deletion 1p", "start": 97, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We also undertook FLCN analysis to evaluate whether unrecognized BHD syndrome might be present in 69 patients with apparent nonsyndromic RCC susceptibility.", "output": {"entities": {"gene": [{"text": "FLCN", "start": 18, "end": 22}], "disease": [{"text": "RCC", "start": 137, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLCN", "start": 18, "end": 22}, "tail": {"text": "RCC", "start": 137, "end": 140}}]}}, "schema": []}
{"input": "Hepatocyte growth factor attenuated the increase in the expression of AIF protein in the nucleus after transient forebrain ischemia.", "output": {"entities": {"gene": [{"text": "Hepatocyte growth factor", "start": 0, "end": 24}], "disease": [{"text": "ischemia", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "This is in contrast to the higher frequencies and worldwide distribution of parkin-and PINK1-related parkinsonism in ARP and sporadic parkinsonism.", "output": {"entities": {"gene": [{"text": "ARP", "start": 117, "end": 120}], "disease": [{"text": "parkinsonism", "start": 101, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Cigarette smoking condensate (but not pure nicotine) stimulated specific serine phosphorylation-dependent ubiquitination and degradation of the IFNAR1 subunit of the Type I IFN receptor leading to attenuation of IFN signaling and decreased resistance to viral infection.", "output": {"entities": {"gene": [{"text": "IFNAR1", "start": 144, "end": 150}], "disease": [{"text": "viral infection", "start": 254, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IFNAR1", "start": 144, "end": 150}, "tail": {"text": "viral infection", "start": 254, "end": 269}}]}}, "schema": []}
{"input": "Expression and mutation analyses of Fas, FLIP and Bcl-2 in granulosa cell tumor of ovary.", "output": {"entities": {"gene": [{"text": "FLIP", "start": 41, "end": 45}], "disease": [{"text": "granulosa cell tumor of ovary", "start": 59, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The CTNNB1-mutated HCC cell line HepG2 is sensitive to glutamine starvation induced in vitro with the antileukemic drug Crisantaspase and the GS inhibitor methionine-L-sulfoximine (MSO).", "output": {"entities": {"gene": [{"text": "HCC", "start": 19, "end": 22}], "disease": [{"text": "starvation", "start": 65, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Our results reveal that XBP1s reduces hepatic lipogenic gene expression and improves hepatosteatosis in mouse models of obesity and insulin resistance, which leads us to conclude that XBP1s has anti-lipogenic properties in the liver.", "output": {"entities": {"gene": [{"text": "XBP1", "start": 24, "end": 28}], "disease": [{"text": "insulin resistance", "start": 132, "end": 150}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "XBP1", "start": 24, "end": 28}, "tail": {"text": "insulin resistance", "start": 132, "end": 150}}]}}, "schema": []}
{"input": "Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson' s disease.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 39, "end": 44}], "disease": [{"text": "Wilson' s disease", "start": 134, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 39, "end": 44}, "tail": {"text": "Wilson' s disease", "start": 134, "end": 151}}]}}, "schema": []}
{"input": "The expression of DNMT1 protein and mRNA and levels of serum folate were detected in 238 women with a diagnosis of normal cervix (NC ， n = 53), cervical intraepithelial neoplasia (CIN I, n = 52; CIN II/III, n = 53), and squamous cell carcinoma of the cervix (SCC; n = 80).", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 18, "end": 23}], "disease": [{"text": "cervical intraepithelial neoplasia", "start": 144, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Thus, the Notch/miR-155/κB-Ras1/NF-κB axis regulates the inflammatory state of the BM niche and affects the development of myeloproliferative disorders.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 32, "end": 37}], "disease": [{"text": "myeloproliferative disorders", "start": 123, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "APOE ε4 worsens hippocampal CA1 apical neuropil atrophy and episodic memory.", "output": {"entities": {"gene": [{"text": "CA1", "start": 28, "end": 31}], "disease": [{"text": "atrophy", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries. The clinical features of IRAK-4 and MyD88 deficiency were indistinguishable.", "output": {"entities": {"gene": [{"text": "IRAK-4", "start": 68, "end": 74}], "disease": [{"text": "IRAK-4 deficiency", "start": 68, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IRAK-4", "start": 68, "end": 74}, "tail": {"text": "IRAK-4 deficiency", "start": 68, "end": 85}}]}}, "schema": []}
{"input": "Apaf-1 was found to interact with cytochrome c within the injured hippocampus 0-24 h following seizures by co-immunoprecipitation analysis and immunohistochemistry demonstrated Apaf-1/cytochrome c co-localization.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 34, "end": 46}], "disease": [{"text": "seizures", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "It is noteworthy that in human U87-MG glioma cells and human primary culture glioma cells, miR-335 also mediated cholera toxin-induced differentiation.", "output": {"entities": {"gene": [{"text": "U87", "start": 31, "end": 34}], "disease": [{"text": "glioma", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Here we show that deregulation of the homeobox transcription factor gene DUX4 and the ETS transcription factor gene ERG is a hallmark of a subtype of B-progenitor ALL that comprises up to 7% of B-ALL.", "output": {"entities": {"gene": [{"text": "DUX4", "start": 73, "end": 77}], "disease": [{"text": "ALL", "start": 163, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DUX4", "start": 73, "end": 77}, "tail": {"text": "ALL", "start": 163, "end": 166}}]}}, "schema": []}
{"input": "Among the alleles potentially associated with type 2 diabetes, none negatively influenced surrogate markers of insulin sensitivity in non-diabetic participants, while the minor alleles of UQCRC1 rs2228561 and COX10 rs10521253 showed a weak (p < 0. 01 to p < 0. 05) negative influence on indices of glucose-stimulated insulin secretion.", "output": {"entities": {"gene": [{"text": "COX10", "start": 209, "end": 214}], "disease": [{"text": "insulin sensitivity", "start": 111, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In addition, Western blots showed that antibody against ERV9 pol protein in serum from the HERV + schizophrenia patients, but not from control (p & lt; 0. 01).", "output": {"entities": {"gene": [{"text": "pol", "start": 61, "end": 64}], "disease": [{"text": "schizophrenia", "start": 98, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pol", "start": 61, "end": 64}, "tail": {"text": "schizophrenia", "start": 98, "end": 111}}]}}, "schema": []}
{"input": "We further show that Ras-dependent lung tumorigenesis is associated with increased phosphorylation on Ser10 and cytoplasmic mislocalization of p27.", "output": {"entities": {"gene": [{"text": "p27", "start": 143, "end": 146}], "disease": [{"text": "tumorigenesis", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 13, "end": 17}], "disease": [{"text": "dominant optic atrophy", "start": 83, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 13, "end": 17}, "tail": {"text": "dominant optic atrophy", "start": 83, "end": 105}}]}}, "schema": []}
{"input": "To identify associations between semiautomatically extracted MRI features and breast cancer molecular subtypes.", "output": {"entities": {"gene": [{"text": "MRI", "start": 61, "end": 64}], "disease": [{"text": "breast cancer", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that 17 SNPs within GRIA1, GRIA2 and GRIA4 may not be associated with the development and treatment outcomes in BD.", "output": {"entities": {"gene": [{"text": "GRIA2", "start": 47, "end": 52}], "disease": [{"text": "BD", "start": 132, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIA2", "start": 47, "end": 52}, "tail": {"text": "BD", "start": 132, "end": 134}}]}}, "schema": []}
{"input": "Whereas the pathophysiology of muscular dystrophy and the core myopathies involves abnormal mitochondrial Ca (2 +) handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca (2 +) signaling, demonstrating the crucial role of mitochondrial Ca (2 +) uptake in humans.", "output": {"entities": {"gene": [{"text": "MICU1", "start": 155, "end": 160}], "disease": [{"text": "myopathies", "start": 63, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MICU1", "start": 155, "end": 160}, "tail": {"text": "myopathies", "start": 63, "end": 73}}]}}, "schema": []}
{"input": "Mixed cryoglobulinemia, purpura, arthritis, proteinuria, decreased complement levels, rheumatoid factor and anti-GOR, smooth muscle antibody (SMA), anti-nuclear antibody (ANA), and liver, kidney microsome (LKM) autoantibodies were significantly more represented in HCV positive patients than in negative ones (P <. 05).", "output": {"entities": {"gene": [{"text": "ANA", "start": 171, "end": 174}], "disease": [{"text": "purpura", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "In 3 newborns with CK > 2, 000U/l in whom DMD gene abnormalities were not found, we identified limb-girdle muscular dystrophy gene mutations affecting DYSF, SGCB, and FKRP.", "output": {"entities": {"gene": [{"text": "SGCB", "start": 157, "end": 161}], "disease": [{"text": "abnormalities", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In summary, our data demonstrate that ALDH1B1 may promote colon cancer tumorigenesis by modulating the Wnt/β-catenin, Notch and PI3K/Akt signaling pathways.", "output": {"entities": {"gene": [{"text": "ALDH1B1", "start": 38, "end": 45}], "disease": [{"text": "tumorigenesis", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Our analysis reveals that MMP10 is highly overexpressed in human lung tumors.", "output": {"entities": {"gene": [{"text": "MMP10", "start": 26, "end": 31}], "disease": [{"text": "lung tumors", "start": 65, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP10", "start": 26, "end": 31}, "tail": {"text": "lung tumors", "start": 65, "end": 76}}]}}, "schema": []}
{"input": "Gene expression levels of APTX, BRCA1 and ERCC1 were significantly lower in irinotecan-sensitive gastric cancer samples than those irinotecan-resistant samples (P < 0. 001 for all genes), while ISG15 (P = 0. 047) and Topo1 (P = 0. 002) were significantly higher.", "output": {"entities": {"gene": [{"text": "ISG15", "start": 194, "end": 199}], "disease": [{"text": "gastric cancer", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "E-cadherin, total beta-catenin, and dephosphorylated beta-catenin protein expression in the mid-secretory endometrium of infertile patients with endometriosis or unexplained infertility was significantly higher compared to that of healthy fertile controls in both luminal and glandular epithelial cells.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 0, "end": 10}], "disease": [{"text": "infertile", "start": 121, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In this article we describe genome-wide histone H3K9/K14 hyperacetylation and DNA methylation maps conferred by hyperglycemia in primary human vascular cells.", "output": {"entities": {"gene": [{"text": "K14", "start": 53, "end": 56}], "disease": [{"text": "hyperglycemia", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "To determine to what extent double inherited thrombophilias are associated with adverse obstetric complications correlated with fetoplacental insufficiency, such as preeclampsia, hemolytic anemia elevated liver enzymes and low platelet count (HELLP) syndrome, gestational hypertension, fetal growth restriction (FGR), intrauterine death (ID), abruptio placentae and disseminated intravascular coagulopathy.", "output": {"entities": {"gene": [{"text": "FGR", "start": 312, "end": 315}], "disease": [{"text": "hemolytic anemia", "start": 179, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "MRI screening in an additional 10 PSD families without R355C showed no cerebral infarction.", "output": {"entities": {"gene": [{"text": "PSD", "start": 34, "end": 37}], "disease": [{"text": "cerebral infarction", "start": 71, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Ablation of matriptase from LEKTI-deficient mice dampened inflammation, eliminated aberrant protease activity, prevented detachment of the stratum corneum, and improved the barrier function of the epidermis.", "output": {"entities": {"gene": [{"text": "LEKTI", "start": 28, "end": 33}], "disease": [{"text": "inflammation", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Immunologic differences among the chronic B lymphoid leukemias defined by the French-American-British (FAB) classification were evaluated with respect to IgE isotype switching induced by anti-CD40 monoclonal antibody (mAb) and cytokines.", "output": {"entities": {"gene": [{"text": "FAB", "start": 103, "end": 106}], "disease": [{"text": "lymphoid leukemias", "start": 44, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Cell adhesion molecule 1: a novel risk factor for venous thrombosis.", "output": {"entities": {"gene": [{"text": "Cell adhesion molecule 1", "start": 0, "end": 24}], "disease": [{"text": "venous thrombosis", "start": 50, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that nitric oxide (NO) inhibition has synergistic effects with chronic hypoxia in altering maternal serum levels of soluble fms-like tyrosine kinase 1 (sFlt-1), vascular endothelial growth factor (VEGF), and placental growth factor (PlGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 213, "end": 217}], "disease": [{"text": "hypoxia", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The autoimmune dermatologic disease pemphigus vulgaris (PV) is associated with the HLA serotypes DR4 and DRw6.", "output": {"entities": {"gene": [{"text": "DR4", "start": 97, "end": 100}], "disease": [{"text": "pemphigus vulgaris", "start": 36, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.", "output": {"entities": {"gene": [{"text": "phenylalanine hydroxylase", "start": 98, "end": 123}], "disease": [{"text": "Phenylalanine hydroxylase deficiency", "start": 0, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "phenylalanine hydroxylase", "start": 98, "end": 123}, "tail": {"text": "Phenylalanine hydroxylase deficiency", "start": 0, "end": 36}}]}}, "schema": []}
{"input": "A common genetic variant in WFS1 specifically impairs GLP-1-induced insulin secretion independently of insulin sensitivity.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 54, "end": 59}], "disease": [{"text": "insulin sensitivity", "start": 103, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "RGS6 is enriched in hippocampal and cortical neurons, 5-HT (1A) R-expressing cells implicated in mood disorders.", "output": {"entities": {"gene": [{"text": "RGS6", "start": 0, "end": 4}], "disease": [{"text": "mood disorders", "start": 97, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RGS6", "start": 0, "end": 4}, "tail": {"text": "mood disorders", "start": 97, "end": 111}}]}}, "schema": []}
{"input": "Allele frequencies are calculated for each genotype of CYP1A1 * 2A and the differences for allele frequencies between the infertile and fertile men are determined using Fisher' s exact test.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 55, "end": 61}], "disease": [{"text": "infertile", "start": 122, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Our studies define the molecular composition of tip links and provide a conceptual base for exploring the mechanisms of sensory impairment associated with mutations in CDH23 and PCDH15.", "output": {"entities": {"gene": [{"text": "CDH23", "start": 168, "end": 173}], "disease": [{"text": "sensory impairment", "start": 120, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "This precise alteration has not been previously identified in the human androgen receptor gene in patients with the androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 72, "end": 89}], "disease": [{"text": "androgen insensitivity syndrome", "start": 116, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 72, "end": 89}, "tail": {"text": "androgen insensitivity syndrome", "start": 116, "end": 147}}]}}, "schema": []}
{"input": "Nasal fibroblasts produced high levels of VEGF, when cultured under hypoxic condition and this production was remarkably enhanced in the presence of TNF-alpha or endotoxin.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 42, "end": 46}], "disease": [{"text": "hypoxic", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In addition, ENTPD6 expression in seminoma was higher than that in other testicular tumors.", "output": {"entities": {"gene": [{"text": "ENTPD6", "start": 13, "end": 19}], "disease": [{"text": "seminoma", "start": 34, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ENTPD6", "start": 13, "end": 19}, "tail": {"text": "seminoma", "start": 34, "end": 42}}]}}, "schema": []}
{"input": "The translocation fuses the SYT gene from chromosome 18 to either of two highly homologous genes at Xp11, SSX1 or SSX2.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 114, "end": 118}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The present experiments examined the role of spinal proinflammatory cytokines [interleukin-1beta (IL-1)] and chemokines (fractalkine) in acute analgesia and in the development of analgesic tolerance, thermal hyperalgesia, and tactile allodynia in response to chronic intrathecal morphine.", "output": {"entities": {"gene": [{"text": "fractalkine", "start": 121, "end": 132}], "disease": [{"text": "tactile allodynia", "start": 226, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "A subset of juvenile-onset familial/sporadic ALS cases with FUS gene mutations reportedly demonstrates mental retardation or learning difficulty.", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 60, "end": 68}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Deficit in beta-endorphin peptide and tendency to alcohol abuse.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 11, "end": 25}], "disease": [{"text": "alcohol abuse", "start": 50, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-endorphin", "start": 11, "end": 25}, "tail": {"text": "alcohol abuse", "start": 50, "end": 63}}]}}, "schema": []}
{"input": "This study investigated the associations of functional polymorphisms of the NQO1, GSTM1, and GSTT1 genes of detoxification enzymes, with the seropositivity, as well as with pepsinogen levels, as markers of gastric atrophy.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 76, "end": 80}], "disease": [{"text": "gastric atrophy", "start": 206, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Firstly, we studied age, APOE-ε4 carriership, waist circumference, hypertension, diabetes mellitus, total and HDL-cholesterol levels, smoking, and stroke as potential determinants of MCI.", "output": {"entities": {"gene": [{"text": "MCI", "start": 183, "end": 186}], "disease": [{"text": "smoking", "start": 134, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that p34 (SEI-1) affects cancer metastasis by regulating two different signaling pathways depending on the HER2/neu expression level, in which AKT and ILK modulation can be stimulated by p34 (SEI-1) overexpression.", "output": {"entities": {"gene": [{"text": "p34", "start": 27, "end": 30}], "disease": [{"text": "metastasis", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Hypermethylation of the 5' CpG island of the gene encoding the serine protease Testisin promotes its loss in testicular tumorigenesis.", "output": {"entities": {"gene": [{"text": "Testisin", "start": 79, "end": 87}], "disease": [{"text": "tumorigenesis", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In multivariate analysis, AURKA was associated with cyclin D1 expression (P =. 010) and inversely with PIK3CA mutation (P =. 014), fatty acid synthase expression (P =. 028), and family history of colorectal cancer (P =. 050), but not with sex, age, body mass index, tumor location, stage, CIMP, MSI, KRAS, BRAF, BMI, LINE-1 hypomethylation, p53, p21, beta-catenin, or cyclooxygenase 2.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 351, "end": 363}], "disease": [{"text": "body mass index", "start": 249, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Our data show that the presence of SNPs in IL12B, TNFA, and IL1B was significantly associated with asthma, atopy, and severity of asthma. We also highlight the importance of genetic context, haplotype, and gene-gene interaction analysis in genetic association studies.", "output": {"entities": {"gene": [{"text": "TNFA", "start": 50, "end": 54}], "disease": [{"text": "atopy", "start": 107, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Our findings demonstrated two new novel LRP5 mutations in Chinese patients with FEVR and mild reduced BMD.", "output": {"entities": {"gene": [{"text": "LRP5", "start": 40, "end": 44}], "disease": [{"text": "mild", "start": 89, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Previous studies indicate that the regions, where the ACHE (7q22) and BCHE (3q26. 1-q26. 2) genes are localized, are suffering such structural modifications in breast cancer.", "output": {"entities": {"gene": [{"text": "BCHE", "start": 70, "end": 74}], "disease": [{"text": "breast cancer", "start": 160, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCHE", "start": 70, "end": 74}, "tail": {"text": "breast cancer", "start": 160, "end": 173}}]}}, "schema": []}
{"input": "Seven of these probes are induced in all cervical cancer stages: they are GINS1, PAK2, DTL, AURKA, PRKDC, NEK2 and CEP55.", "output": {"entities": {"gene": [{"text": "GINS1", "start": 74, "end": 79}], "disease": [{"text": "cervical cancer", "start": 41, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that a novel adhesive site within the cell binding domain of TSP promotes the adhesion of sickle RBCs to TSP.", "output": {"entities": {"gene": [{"text": "TSP", "start": 80, "end": 83}], "disease": [{"text": "adhesion", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "TRMT11", "start": 33, "end": 39}], "disease": [{"text": "ovarian cancer", "start": 182, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRMT11", "start": 33, "end": 39}, "tail": {"text": "ovarian cancer", "start": 182, "end": 196}}]}}, "schema": []}
{"input": "Expression of MMP-26 was detected by immunohistochemistry in granulomatous skin diseases and actinic elastosis.", "output": {"entities": {"gene": [{"text": "MMP-26", "start": 14, "end": 20}], "disease": [{"text": "skin diseases", "start": 75, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-26", "start": 14, "end": 20}, "tail": {"text": "skin diseases", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "Importantly, sporadic cases of CHD that share phenotypic aspects of NKX2. 5 mutation carriers were negative for genetic analysis.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 68, "end": 75}], "disease": [{"text": "sporadic", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "For in vivo studies, 10 animals harboring SK-LMS-1 human leiomyosarcoma cells were randomly divided and treated twice on days 0 and 9 intraneoplastically with either 1 x 10 (7) plaque-forming units of d12. CALP/100 mm (3) of tumor volume or with medium alone.", "output": {"entities": {"gene": [{"text": "d12", "start": 201, "end": 204}], "disease": [{"text": "leiomyosarcoma", "start": 57, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that p63, particularly its splice variant DeltaNp73L, is involved in the neoplastic transformation of salivary glands.", "output": {"entities": {"gene": [{"text": "p63", "start": 24, "end": 27}], "disease": [{"text": "neoplastic transformation", "start": 92, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "This mode of administration induces cytochrome c release from mitochondria, a decrease in Bcl-2 in both mitochondria and endoplasmic reticulum, Bax translocation into mitochondria, activation of caspase-3, and DNA fragmentation.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 90, "end": 95}], "disease": [{"text": "translocation", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence-activated cell sorting analysis using Annexin V and propidium iodide (PI) showed that LDP induced apoptotic cell death, whereas HDP predominantly caused necrotic cell death.", "output": {"entities": {"gene": [{"text": "Annexin V", "start": 51, "end": 60}], "disease": [{"text": "necrotic cell death", "start": 166, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.", "output": {"entities": {"gene": [{"text": "PROP1", "start": 33, "end": 38}], "disease": [{"text": "pituitary hormone deficiency", "start": 132, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "We therefore investigated gene expression of 25 inflammation-related miRNAs, 27 cytokines/chemokines/receptors, and a Th1-transcription factor T-bet in unseparated BAL cells obtained from 48 sarcoidosis patients and 14 control subjects using quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "Th1", "start": 118, "end": 121}], "disease": [{"text": "sarcoidosis", "start": 191, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that in male mice GHRH deficiency brings about an increased physical activity and decreased anxiety-and depression-related behaviour, possibly related to increased TRH and decreased NE levels in the brain.", "output": {"entities": {"gene": [{"text": "TRH", "start": 186, "end": 189}], "disease": [{"text": "depression", "start": 126, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 186, "end": 189}, "tail": {"text": "depression", "start": 126, "end": 136}}]}}, "schema": []}
{"input": "Therefore in this study, we examined the genetic roles of FABP5 and 3 in schizophrenia (N = 1, 900 in combination with controls) and FABP7, 5, and 3 in bipolar disorder (N = 1, 762 in the case-control set).", "output": {"entities": {"gene": [{"text": "FABP5", "start": 58, "end": 63}], "disease": [{"text": "schizophrenia", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FABP5", "start": 58, "end": 63}, "tail": {"text": "schizophrenia", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "In dimethylnitrosamine (DMN)-induced fibrotic rat livers, adenovirus-mediated NDRG2 overexpression resulted in decreased ECM deposition and improved liver function compared with controls.", "output": {"entities": {"gene": [{"text": "DMN", "start": 24, "end": 27}], "disease": [{"text": "adenovirus", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aimed to evaluate sensitivity and specificity of the Basophil Activation Test (BAT) as a diagnostic and monitoring test in patients with mastocytosis and WVA.", "output": {"entities": {"gene": [{"text": "BAT", "start": 97, "end": 100}], "disease": [{"text": "mastocytosis", "start": 155, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Significant reductions in CRP40 mRNA were found among first episode schizophrenia subjects and chronic schizophrenia subjects compared to healthy controls (p & lt; 0. 05 for both).", "output": {"entities": {"gene": [{"text": "CRP40", "start": 26, "end": 31}], "disease": [{"text": "chronic schizophrenia", "start": 95, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRP40", "start": 26, "end": 31}, "tail": {"text": "chronic schizophrenia", "start": 95, "end": 116}}]}}, "schema": []}
{"input": "Microarray studies in prostate DU145 cells identified the pro-cell death gene, BNIP3 (Bcl-2/adenovirus E1B 19 kDa interacting protein 3), as a novel putative target of SIM2s repression.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 79, "end": 84}], "disease": [{"text": "adenovirus", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Based on the current results, it seems that chronic inflammation in depressed patients correlates to the over expression of TRIF and MYD88 genes.", "output": {"entities": {"gene": [{"text": "MYD88", "start": 133, "end": 138}], "disease": [{"text": "depressed", "start": 68, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYD88", "start": 133, "end": 138}, "tail": {"text": "depressed", "start": 68, "end": 77}}]}}, "schema": []}
{"input": "The adenovirus E1A C-terminal region restrains oncogenic transformation through interaction with three distinct cellular protein complexes that include the DYRK1A/1B/HAN11 complex.", "output": {"entities": {"gene": [{"text": "HAN11", "start": 166, "end": 171}], "disease": [{"text": "adenovirus", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.", "output": {"entities": {"gene": [{"text": "GATA2", "start": 13, "end": 18}], "disease": [{"text": "MonoMAC) syndrome", "start": 118, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATA2", "start": 13, "end": 18}, "tail": {"text": "MonoMAC) syndrome", "start": 118, "end": 135}}]}}, "schema": []}
{"input": "Given the co-stimulatory role of natural-killer group 2, member D protein (NKG2D) on CD8 (+) T cells, we investigated its ability to rescue these immunologically impotent cells.", "output": {"entities": {"gene": [{"text": "CD8", "start": 85, "end": 88}], "disease": [{"text": "impotent", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Two unrelated individuals were positive for the 3849 + 10C-> T cystic fibrosis mutation; one carried the N370S Gaucher disease mutation, and one carried the connexin 26 167delT mutation.", "output": {"entities": {"gene": [{"text": "10C", "start": 55, "end": 58}], "disease": [{"text": "cystic fibrosis", "start": 63, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "An insertion/deletion (I/D) polymorphism of the angiotensin converting enzyme (ACE) gene significantly influences circulating ACE levels and plays a role in the development of target organ damage, that is, left ventricular hypertrophy in essential hypertension (EH), and microalbuminuria in diabetes mellitus.", "output": {"entities": {"gene": [{"text": "ACE", "start": 79, "end": 82}], "disease": [{"text": "microalbuminuria", "start": 271, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "The chromosome region 21q22, where AML1 maps, is involved in several other karyotypic aberrations, such as the t (3; 21) translocation associated with a subset of therapy-related myelodysplastic syndromes and AML, and the blast phase of chronic myelogenous leukemia.", "output": {"entities": {"gene": [{"text": "AML1", "start": 35, "end": 39}], "disease": [{"text": "translocation", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that mutant alleles in RDH5 are a cause of fundus albipunctatus, a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments.", "output": {"entities": {"gene": [{"text": "RDH5", "start": 43, "end": 47}], "disease": [{"text": "fundus albipunctatus", "start": 63, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDH5", "start": 43, "end": 47}, "tail": {"text": "fundus albipunctatus", "start": 63, "end": 83}}]}}, "schema": []}
{"input": "Of 6 specimens with SSX2 translocation, none (0%) showed HER-2/neu immunoreactivity and 1 (17%) demonstrated EGFR expression.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 20, "end": 24}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The multiply Cox regression suggested the overexpression and amplification of EGFR were negative prognostic factors for MB.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 78, "end": 82}], "disease": [{"text": "regression", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "To determine whether the 5-HTTLPR, STin2 VNTR, and rs25531 polymorphisms of SERT are associated with poststroke depression (PSD) in stroke survivors.", "output": {"entities": {"gene": [{"text": "PSD", "start": 124, "end": 127}], "disease": [{"text": "stroke", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "This project sought a hypoxic stimulus to elicit increases in HSP72 and HSP32 in attempts to confer protection to the sub-maximal aerobic exercise-induced disturbances to redox balance.", "output": {"entities": {"gene": [{"text": "HSP72", "start": 62, "end": 67}], "disease": [{"text": "hypoxic", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Associations between AD and/or depression to gene polymorphisms APO E (epsilon4), choline acetyltransferase (ChAT) 4G to A, serotonin-transporter gene promoter-length, dopamine-D4-receptor, ciliary-neurotrophic-factor-null mutation and brain-derived neurotrophic factor (C270T) and to various known factors were analyzed.", "output": {"entities": {"gene": [{"text": "ciliary-neurotrophic-factor", "start": 190, "end": 217}], "disease": [{"text": "depression", "start": 31, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ciliary-neurotrophic-factor", "start": 190, "end": 217}, "tail": {"text": "depression", "start": 31, "end": 41}}]}}, "schema": []}
{"input": "To assess myocardial expression of SERCA and NCX protein levels in left ventricular (LV) remodelling due to chronic severe mitral regurgitation (MR).", "output": {"entities": {"gene": [{"text": "NCX", "start": 45, "end": 48}], "disease": [{"text": "mitral regurgitation", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Prevalence of CTCs was examined in samples from HCC patients, healthy volunteers, and patients with benign liver diseases or non-HCC cancers.", "output": {"entities": {"gene": [{"text": "HCC", "start": 48, "end": 51}], "disease": [{"text": "liver diseases", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we evaluated for the first time the Her-2/neu status in the metaplasia-dysplasia-adenocarcinoma sequence of BCA simultaneously at the DNA, mRNA, and protein level using resection specimens of 25 patients.", "output": {"entities": {"gene": [{"text": "BCA", "start": 130, "end": 133}], "disease": [{"text": "metaplasia", "start": 82, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Several groups, however, have searched for FSHR mutations, although in most cases the gene has been studied partially, not finding any genetic abnormalities in German, English, North American or Brazilian women.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 43, "end": 47}], "disease": [{"text": "abnormalities", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Evidence is accumulating that activation of the pancreatic endoplasmic reticulum kinase (PERK) in response to endoplasmic reticulum (ER) stress adapts tumor cells to the tumor microenvironment and enhances tumor angiogenesis by inducing vascular endothelial growth factor A (VEGF-A).", "output": {"entities": {"gene": [{"text": "PERK", "start": 89, "end": 93}], "disease": [{"text": "tumor angiogenesis", "start": 206, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "The BRAF V600E mutation and 5 CpG island markers (MINT1, MINT2, MINT31, p16 and hMLH1) were assessed in 1154 cases of colon cancer.", "output": {"entities": {"gene": [{"text": "MINT1", "start": 50, "end": 55}], "disease": [{"text": "colon cancer", "start": 118, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Thus, our data suggest that the dysregulation of the innate immune system by a TLR-2 deficiency may contribute to the development and/or pathophysiology of schizophrenia-like behaviors via Akt-GSK-3 & #945;/& #946; signaling.", "output": {"entities": {"gene": [{"text": "TLR-2", "start": 79, "end": 84}], "disease": [{"text": "schizophrenia", "start": 156, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR-2", "start": 79, "end": 84}, "tail": {"text": "schizophrenia", "start": 156, "end": 169}}]}}, "schema": []}
{"input": "Further studies of the novel mutation in the MUT gene by means of homology modeling revealed abnormalities in the protein' s structure, which causes the protein to act malfunctioning and also the mRNA expression analysis of MUT gene confirmed these results.", "output": {"entities": {"gene": [{"text": "MUT", "start": 45, "end": 48}], "disease": [{"text": "abnormalities", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The melanocortin 1 receptor (MC1R), a key regulator of melanogenesis, is known to control inflammation, acting in concert with the MC1R ligand α-melanocyte-stimulating hormone.", "output": {"entities": {"gene": [{"text": "MC1R", "start": 29, "end": 33}], "disease": [{"text": "inflammation", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Because V138F was found in the German patients with Pendred' s syndrome on at least one allele, we genotyped five microsatellite markers located in the PDS region.", "output": {"entities": {"gene": [{"text": "PDS", "start": 152, "end": 155}], "disease": [{"text": "Pendred' s syndrome", "start": 52, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDS", "start": 152, "end": 155}, "tail": {"text": "Pendred' s syndrome", "start": 52, "end": 71}}]}}, "schema": []}
{"input": "We report a novel G13513A mutation in the mitochondrial ND5 gene in a patient who had morphologically and biochemically abnormal muscle mitochondria and died at age 45 with a diagnosis of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes).", "output": {"entities": {"gene": [{"text": "ND5", "start": 56, "end": 59}], "disease": [{"text": "mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes", "start": 195, "end": 269}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND5", "start": 56, "end": 59}, "tail": {"text": "mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes", "start": 195, "end": 269}}]}}, "schema": []}
{"input": "Our data indicate that RNF43 gene harbored not only exceedingly high mutations but also mutational ITH, which together might play a role in tumorigenesis of GC and CRC.", "output": {"entities": {"gene": [{"text": "RNF43 gene", "start": 23, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we have identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 44, "end": 49}], "disease": [{"text": "Ohtahara syndrome", "start": 79, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN2A", "start": 44, "end": 49}, "tail": {"text": "Ohtahara syndrome", "start": 79, "end": 96}}]}}, "schema": []}
{"input": "LOH of the APC, DCC, or p53 genes was observed in six of eight informative PDNC tumors; no LOH was detected in the carcinoid control specimens.", "output": {"entities": {"gene": [{"text": "DCC", "start": 16, "end": 19}], "disease": [{"text": "carcinoid", "start": 115, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that disruption or decreased expression of CNTNAP2 could lead to a disturbed distribution of the K (+) channels in the nervous system, thereby influencing conduction and/or repolarization of action potentials, causing unwanted actions or movements in GTS.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 58, "end": 65}], "disease": [{"text": "nervous system", "start": 134, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 162, "end": 167}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR1", "start": 162, "end": 167}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "No association was established between E-cadherin immunoreactivity and p53 abnormalities (P =. 13).", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 39, "end": 49}], "disease": [{"text": "abnormalities", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Hypotension, autonomic failure, and cardiac hypertrophy in transgenic mice overexpressing the alpha 1B-adrenergic receptor.", "output": {"entities": {"gene": [{"text": "alpha 1B-adrenergic receptor", "start": 94, "end": 122}], "disease": [{"text": "Hypotension", "start": 0, "end": 11}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha 1B-adrenergic receptor", "start": 94, "end": 122}, "tail": {"text": "Hypotension", "start": 0, "end": 11}}]}}, "schema": []}
{"input": "We determined the subtoxic range of selenium concentration (as sodium selenite) required to increase and maintain the expression of anti-oxidant selenoproteins gluthathione peroxidases GPX1 and GPX4 at a constant level in cultures of human lung adenocarcinoma cell lines (H460, H1703 and H1944) and in HPL1D, a non-transformed lung epithelial cell line.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 185, "end": 189}], "disease": [{"text": "lung adenocarcinoma", "start": 240, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "The expression of VEGFA, which should rise in hypoxia, is significantly inhibited by eIF3i siRNA treatment.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 18, "end": 23}], "disease": [{"text": "hypoxia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The mechanisms by which spastin, atlastin, and paraplegin mutations cause axonal degeneration that results in clinically similar forms of HSP are not known.", "output": {"entities": {"gene": [{"text": "atlastin", "start": 33, "end": 41}], "disease": [{"text": "axonal degeneration", "start": 74, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Clinical depression was evidenced in 68. 4% of SCA1 and 75% non SCA-1 patients.", "output": {"entities": {"gene": [{"text": "SCA1", "start": 47, "end": 51}], "disease": [{"text": "Clinical depression", "start": 0, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SCA1", "start": 47, "end": 51}, "tail": {"text": "Clinical depression", "start": 0, "end": 19}}]}}, "schema": []}
{"input": "Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Bietti marginal crystalline dystrophy), chromosome 5 (lattice dystrophy types 1 and IIIA, granular corneal dystrophy types 1, 2 and 3, Thiel-Behnke corneal dystrophy), chromosome 9 (lattice dystrophy type II), chromosome 10 (Thiel-Behnke corneal dystrophy), chromosome 12 (Meesmann dystrophy), chromosome 16 (macular corneal dystrophy, fish eye disease, LCAT disease, tyrosinemia type II), chromosome 17 (Meesmann dystrophy, Stocker-Holt dystrophy), chromosome 20 (congenital hereditary endothelial corneal dystrophy types I and II, posterior polymorphous corneal dystrophy), chromosome 21 (autosomal dominant keratoconus) and the X chromosome (cornea verticillata, cornea farinata, deep filiform corneal dystrophy, keratosis follicularis spinulosa decalvans, Lisch corneal dystrophy).])", "output": {"entities": {"gene": [{"text": "LCAT", "start": 594, "end": 598}], "disease": [{"text": "granular corneal dystrophy", "start": 330, "end": 356}]}, "relations": {}}, "schema": []}
{"input": "However, in the absence of ligand, ALK-1 and endoglin interactions were observed by immunoprecipitation/western blot in HUVEC from normal as well as HHT1 and HHT2 patients.", "output": {"entities": {"gene": [{"text": "ALK-1", "start": 35, "end": 40}], "disease": [{"text": "HHT2", "start": 158, "end": 162}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALK-1", "start": 35, "end": 40}, "tail": {"text": "HHT2", "start": 158, "end": 162}}]}}, "schema": []}
{"input": "Of the 18 genes analyzed here, eight genes (S100A8, S100A9, MNDA, SELL, TGFB1, PSMB3, CD74, and IL12A) had higher expression and three genes (GNLY, PSMA4, and SMAD7) had lower expression in T1D patients compared with control subjects, indicating that genes involved in inflammation, immune regulation, and antigen processing and presentation are significantly altered in PBMCs from T1D patients.]", "output": {"entities": {"gene": [{"text": "PSMA4", "start": 148, "end": 153}], "disease": [{"text": "inflammation", "start": 269, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "Individual SOCS3 SNPs were not associated with general or central obesity, or with two indices of insulin sensitivity (homeostasis model assessment and insulin sensitivity measure).", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 11, "end": 16}], "disease": [{"text": "insulin sensitivity", "start": 98, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Gene level disturbances in cellular and molecular networks impacted by alcohol and alcoholism pathology include transketolase (TKT), transferrin (TF), and myelin (e. g., MBP, MOBP, and MOG).", "output": {"entities": {"gene": [{"text": "MOBP", "start": 175, "end": 179}], "disease": [{"text": "alcoholism", "start": 83, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MOBP", "start": 175, "end": 179}, "tail": {"text": "alcoholism", "start": 83, "end": 93}}]}}, "schema": []}
{"input": "We directly sequenced the gene for steroidogenic acute regulatory protein in 15 patients with congenital lipoid adrenal hyperplasia from 10 countries.", "output": {"entities": {"gene": [{"text": "steroidogenic acute regulatory protein", "start": 35, "end": 73}], "disease": [{"text": "congenital lipoid adrenal hyperplasia", "start": 94, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "steroidogenic acute regulatory protein", "start": 35, "end": 73}, "tail": {"text": "congenital lipoid adrenal hyperplasia", "start": 94, "end": 131}}]}}, "schema": []}
{"input": "Mutations of GPR161 may be implicated as a potential novel cause of PSIS.", "output": {"entities": {"gene": [{"text": "GPR161", "start": 13, "end": 19}], "disease": [{"text": "PSIS", "start": 68, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPR161", "start": 13, "end": 19}, "tail": {"text": "PSIS", "start": 68, "end": 72}}]}}, "schema": []}
{"input": "PSACH results from mutations in the cartilage oligomeric matrix protein (COMP) gene, while SEDC is caused by mutations in the gene for type II procollagen (COL2A1).", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 156, "end": 162}], "disease": [{"text": "SEDC", "start": 91, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 156, "end": 162}, "tail": {"text": "SEDC", "start": 91, "end": 95}}]}}, "schema": []}
{"input": "In multivariable analyses, IL-18 remained associated with multiple components of the MS but not with CAC or aortic plaque.", "output": {"entities": {"gene": [{"text": "CAC", "start": 101, "end": 104}], "disease": [{"text": "plaque", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In this study, we performed immunophenotypic analysis of peripheral blood NK cells with regard to CD56, CD16, Nkp46, and CD25 markers, as well as IL-10 levels quantification in the sera samples of asymptomatic, H. pylori (Hp)-infected or uninfected individuals, and combined these results with our previous findings on lymphocyte cytotoxic activity.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 146, "end": 151}], "disease": [{"text": "asymptomatic", "start": 197, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "MUC5AC overexpression in metaplasia, dysplasia and normal epithelium adjacent to squamous cell carcinoma provides additional arguments for a mucous cell origin of preneoplastic squamous lesions.", "output": {"entities": {"gene": [{"text": "MUC5AC", "start": 0, "end": 6}], "disease": [{"text": "metaplasia", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "As a whole, the degree of impairment of WASP protein expression in WAS/XLT seems to correlate with anomalies of cytoskeletal organization, strongly supporting a role for WASP in the regulation of F-actin polymerization.", "output": {"entities": {"gene": [{"text": "WASP", "start": 40, "end": 44}], "disease": [{"text": "WAS", "start": 40, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WASP", "start": 40, "end": 44}, "tail": {"text": "WAS", "start": 40, "end": 43}}]}}, "schema": []}
{"input": "Suppression of the genes adenosine triphosphate citrate lyase, acetyl-CoA carboxylase, fatty acid synthase, stearoyl-CoA desaturase 1, or sterol regulatory element-binding protein 1, which are involved in lipogenesis, reduced proliferation, and survival of HCC cell lines and AKT-dependent cell proliferation.", "output": {"entities": {"gene": [{"text": "fatty acid synthase", "start": 87, "end": 106}], "disease": [{"text": "HCC", "start": 257, "end": 260}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "fatty acid synthase", "start": 87, "end": 106}, "tail": {"text": "HCC", "start": 257, "end": 260}}]}}, "schema": []}
{"input": "Each family was thoroughly educated about all facets of the study, including the molecular genetics, reduced penetrance of CDKN2A mutations, and their variable expressivity.", "output": {"entities": {"gene": [{"text": "CDKN2A", "start": 123, "end": 129}], "disease": [{"text": "variable expressivity", "start": 151, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Expression of GPIbα/β on GPIXW127X platelets was sufficient to support adhesion to immobilized von Willebrand factor and type III collagen and ristocetin-induced platelet agglutination.", "output": {"entities": {"gene": [{"text": "GPIbα", "start": 14, "end": 19}], "disease": [{"text": "adhesion", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of the exons encoding conserved regions of CAMTA1 showed no somatic mutations in 10 gliomas, including 6 cases with and 4 cases without 1p LOH.", "output": {"entities": {"gene": [{"text": "CAMTA1", "start": 61, "end": 67}], "disease": [{"text": "gliomas", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Allele * 2 of the HS1, 2A enhancer of the Ig regulatory region associates with rheumatoid arthritis.", "output": {"entities": {"gene": [{"text": "HS1", "start": 18, "end": 21}], "disease": [{"text": "rheumatoid arthritis", "start": 79, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined the response of human retinal pigment epithelium (RPE) cells to hypoxia and employed the small interference RNA technique to knock down gene expression of HIF-1 alpha in RPE cells.", "output": {"entities": {"gene": [{"text": "RPE", "start": 77, "end": 80}], "disease": [{"text": "hypoxia", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Most of the normal ovaries, ovarian fibromas, ovarian fibrothecomas, and ovarian leiomyomata also expressed ER-beta and PR.", "output": {"entities": {"gene": [{"text": "ER-beta", "start": 108, "end": 115}], "disease": [{"text": "fibromas", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Substitution of the SV40 polyadenylation signal sequence in the luciferase reporter plasmid with the mda-7-ARE-3'-UTR renders the Luciferase message unstable when expressed in proliferating and reversibly differentiated melanoma cells.", "output": {"entities": {"gene": [{"text": "UTR", "start": 114, "end": 117}], "disease": [{"text": "melanoma", "start": 220, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "IL-6-induced enhancement of c-Myc translation in multiple myeloma cells: critical role of cytoplasmic localization of the rna-binding protein hnRNP A1.", "output": {"entities": {"gene": [{"text": "rna-binding protein", "start": 122, "end": 141}], "disease": [{"text": "multiple myeloma", "start": 49, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Ezrin, radixin and moesin are unlikely targets for autoantibodies in AIDP and CIDP, and the association of anti-moesin antibodies with cytomegalovirus-related AIDP was not confirmed.", "output": {"entities": {"gene": [{"text": "radixin", "start": 7, "end": 14}], "disease": [{"text": "cytomegalovirus", "start": 135, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Clinicopathological aspects of the endocervical-like mucinous borderline tumour of the ovary (EMBT), including higher frequencies of bilaterality, endometriosis and hormone receptor reactivity, and often admixtures of various Müllerian-type epithelia, closely resembles endometrioid tumour more than mucinous borderline tumour of the intestinal type (IMBT).", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 165, "end": 181}], "disease": [{"text": "endometrioid tumour", "start": 270, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "MAA and neuraminidase prevent α (v) β (3)-dependent EC adhesion to Tat, the consequent FAK and ERK1/2 phosphorylation, and EC proliferation, migration, and regeneration in a wound-healing assay.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 95, "end": 99}], "disease": [{"text": "adhesion", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.", "output": {"entities": {"gene": [{"text": "C2CD3", "start": 38, "end": 43}], "disease": [{"text": "oral-facial-digital syndrome", "start": 4, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C2CD3", "start": 38, "end": 43}, "tail": {"text": "oral-facial-digital syndrome", "start": 4, "end": 32}}]}}, "schema": []}
{"input": "We found 14 novel SCN2A missense mutations in 15 patients: 9 of 67 OS cases (13. 4%), 1 of 150 West syndrome cases (0. 67%), and 5 of 111 with unclassified EOEEs (4. 5%).", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 18, "end": 23}], "disease": [{"text": "OS", "start": 67, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN2A", "start": 18, "end": 23}, "tail": {"text": "OS", "start": 67, "end": 69}}]}}, "schema": []}
{"input": "We also highlight that the appearance and the progressive increase of the sCLU in colorectal tumors correlate to a significant increase of CLU in serum and stool of patients.", "output": {"entities": {"gene": [{"text": "CLU", "start": 75, "end": 78}], "disease": [{"text": "colorectal tumors", "start": 82, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "R723 preferentially targeted the JAK2-dependent pathway rather than the JAK1-and JAK3-dependent pathways in vivo, and its effects on T and B lymphocytes were mild compared with its effects on myeloid cells.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 33, "end": 37}], "disease": [{"text": "mild", "start": 158, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Real-time PCR analysis of human ACC (n = 8), adenoma (n = 8), and ACC cell lines (SW13, NCI-H295R, and HAC15) revealed a significant down-regulation of TLR4, MD2 (myeloid differentiation protein-2), and cluster of differentiation 14 (CD14) mRNA compared with normal human adrenal cortex and adrenocortical cells in primary culture.", "output": {"entities": {"gene": [{"text": "CD14", "start": 234, "end": 238}], "disease": [{"text": "adenoma", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "ER stress in HSCs promotes liver fibrosis by inducing overexpression of SMAD2, via dysregulation of MIR18A; this dysregulation is mediated by PERK phosphorylation and destabilization of HNRNPA1.", "output": {"entities": {"gene": [{"text": "PERK", "start": 142, "end": 146}], "disease": [{"text": "liver fibrosis", "start": 27, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous missense mutations in the Indian Hedgehog (IHH) gene have been identified as a cause of BDA1; however, the biochemical consequences of these mutations are unclear.", "output": {"entities": {"gene": [{"text": "IHH", "start": 56, "end": 59}], "disease": [{"text": "BDA1", "start": 101, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IHH", "start": 56, "end": 59}, "tail": {"text": "BDA1", "start": 101, "end": 105}}]}}, "schema": []}
{"input": "Very high levels of soluble CD30 recognize the patients with classical Hodgkin' s lymphoma retaining a very poor prognosis.", "output": {"entities": {"gene": [{"text": "CD30", "start": 28, "end": 32}], "disease": [{"text": "Hodgkin' s lymphoma", "start": 71, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD30", "start": 28, "end": 32}, "tail": {"text": "Hodgkin' s lymphoma", "start": 71, "end": 90}}]}}, "schema": []}
{"input": "Epithelial to mesenchymal transition (EMT) plays a dual role in tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 38, "end": 41}], "disease": [{"text": "tumor progression", "start": 64, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.", "output": {"entities": {"gene": [{"text": "CDH5", "start": 72, "end": 76}], "disease": [{"text": "alcohol dependency", "start": 277, "end": 295}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH5", "start": 72, "end": 76}, "tail": {"text": "alcohol dependency", "start": 277, "end": 295}}]}}, "schema": []}
{"input": "Our results indicate a relationship of COMT polymorphism rs4680 with immune dysregulation in CFS providing a potential link for the association between stress and infection susceptibility in CFS.", "output": {"entities": {"gene": [{"text": "COMT", "start": 39, "end": 43}], "disease": [{"text": "immune dysregulation", "start": 69, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Of the more than 200 genes upregulated by these treatments, three of these, neuronatin, metallothionein 3 and cystatin E/M, were frequently hypermethylated and transcriptionally downregulated in NSCLC cell lines and tumors.", "output": {"entities": {"gene": [{"text": "neuronatin", "start": 76, "end": 86}], "disease": [{"text": "NSCLC", "start": 195, "end": 200}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neuronatin", "start": 76, "end": 86}, "tail": {"text": "NSCLC", "start": 195, "end": 200}}]}}, "schema": []}
{"input": "By using combined high resolution copy-number variant and mutation analysis, we identified ARMC4 mutations in twelve PCD individuals whose cells showed reduced numbers of ODAs and severely impaired ciliary beating.", "output": {"entities": {"gene": [{"text": "ARMC4", "start": 91, "end": 96}], "disease": [{"text": "PCD", "start": 117, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARMC4", "start": 91, "end": 96}, "tail": {"text": "PCD", "start": 117, "end": 120}}]}}, "schema": []}
{"input": "Silencing GRP-R decreased HIF-1α expression and blocked VEGF expression and secretion in both normoxic and CoCl2 induced hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 56, "end": 60}], "disease": [{"text": "hypoxia", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "To assess the frequency of t (12; 15) (p13; q25) in breast cancer, we developed complementary probe sets (fusion and split-apart probes) for the detection of this translocation by fluorescence in situ hybridization (FISH) in paraffin-embedded, formalin-fixed tissue sections.", "output": {"entities": {"gene": [{"text": "p13", "start": 39, "end": 42}], "disease": [{"text": "breast cancer", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Impaired periamygdaloid-cortex prodynorphin is characteristic of opiate addiction and depression.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 31, "end": 43}], "disease": [{"text": "depression", "start": 86, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 31, "end": 43}, "tail": {"text": "depression", "start": 86, "end": 96}}]}}, "schema": []}
{"input": "The Id3 (-/-) mice with lymphoma showed splenomegaly, hepatomegaly, and lymphadenopathy with involvement of bone marrow, thymus, kidney, and lungs between 6 and 15 months of age.", "output": {"entities": {"gene": [{"text": "Id3", "start": 4, "end": 7}], "disease": [{"text": "hepatomegaly", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotransferase (ALT), or level of ALT alone, was associated with rs738409 (patatin-like phospholipase domain-containing protein 3 [PNPLA3]), rs2228603 (neurocan [NCAN]), rs12137855 (lysophospholipase-like 1), rs780094 (glucokinase regulatory protein [GCKR]), and rs4240624 (protein phosphatase 1, regulatory subunit 3b [PPP1R3B]) using regression modeling in an additive genetic model, controlling for age, age-squared, sex, and alcohol consumption.", "output": {"entities": {"gene": [{"text": "GCKR", "start": 346, "end": 350}], "disease": [{"text": "regression", "start": 431, "end": 441}]}, "relations": {}}, "schema": []}
{"input": "Annexin VIII was originally found to be a vascular anticoagulant, but evidence obtained from our recent studies suggests that it does not play a role in hemorrhage diathesis in APL.", "output": {"entities": {"gene": [{"text": "Annexin VIII", "start": 0, "end": 12}], "disease": [{"text": "hemorrhage", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We performed immunohistochemistry (IHC) for MMR proteins hMLH1, hMSH2, and hMSH6 in all 35 tumors and microsatellite instability (MSI) studies in 34/35 tumors using 10 microsatellite markers in paired normal and tumor DNA.", "output": {"entities": {"gene": [{"text": "MMR", "start": 44, "end": 47}], "disease": [{"text": "microsatellite instability", "start": 102, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Firstly, a quantitative PCR was done using 3 microl of a cloned B19 DNA (33. 3 pg/ml) mixed in 47 microl of sterile distilled water which were further diluted from 10 (-1) up to 10 (-7) to find the lower limit of DNA detection.", "output": {"entities": {"gene": [{"text": "B19", "start": 64, "end": 67}], "disease": [{"text": "sterile", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Subsequently, the size of ESD-induced artificial ulcers were measured to determine the speed of gastric ulcer healing, and regenerating mucosa around the ulcers and appropriately matched controls were collected from patients by endoscopic biopsy.", "output": {"entities": {"gene": [{"text": "ESD", "start": 26, "end": 29}], "disease": [{"text": "gastric ulcer", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "To further confirm this observation, in this study, we employed 89 individuals diagnosed with sporadic non-syndromic oligodontia (40 males and 49 females) to investigate the relationship between polymorphism in rs929387 of GLI3 and tooth agenesis.", "output": {"entities": {"gene": [{"text": "GLI3", "start": 223, "end": 227}], "disease": [{"text": "tooth agenesis", "start": 232, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Stat5a nuclear expression was also detected in intraductal proliferations (10 of 21 lesions) and in ductal carcinomas in situ (13 of 15 lesions).", "output": {"entities": {"gene": [{"text": "Stat5a", "start": 0, "end": 6}], "disease": [{"text": "ductal carcinomas", "start": 100, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Stat5a", "start": 0, "end": 6}, "tail": {"text": "ductal carcinomas", "start": 100, "end": 117}}]}}, "schema": []}
{"input": "Real-time RT-PCR, Western blot analysis, and enzyme-linked immunosorbent assay (ELISA) were conducted on CD18 and S2-013 human pancreatic cancer cells treated with apigenin (0-50 μM) in normoxic and hypoxic conditions to evaluate HIF-1α, GLUT-1, and VEGF mRNA and protein expression and secretion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 250, "end": 254}], "disease": [{"text": "hypoxic", "start": 199, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "These results reveal an essential role of MKK7 in cardiomyocytes for protecting the heart from hypertrophic insults thereby preventing the transition to heart failure.", "output": {"entities": {"gene": [{"text": "MKK7", "start": 42, "end": 46}], "disease": [{"text": "heart failure", "start": 153, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MKK7", "start": 42, "end": 46}, "tail": {"text": "heart failure", "start": 153, "end": 166}}]}}, "schema": []}
{"input": "MLL gene involvement, which has been reported in some leukemia cases, was examined by FISH in fusion partner-unknown cases.", "output": {"entities": {"gene": [{"text": "FISH", "start": 86, "end": 90}], "disease": [{"text": "leukemia", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Nerve growth factor serum concentrations increase during many inflammatory and autoimmune diseases, glomerulonephritis, chronic kidney disease, end-stage renal disease and, particularly, in renal transplant.", "output": {"entities": {"gene": [{"text": "Nerve growth factor", "start": 0, "end": 19}], "disease": [{"text": "end-stage renal disease", "start": 144, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nerve growth factor", "start": 0, "end": 19}, "tail": {"text": "end-stage renal disease", "start": 144, "end": 167}}]}}, "schema": []}
{"input": "Along with paraplegin, which causes recessive spastic paraplegia, AFG3L2 is a component of the conserved m-AAA metalloprotease complex involved in the maintenance of the mitochondrial proteome.", "output": {"entities": {"gene": [{"text": "AFG3L2", "start": 66, "end": 72}], "disease": [{"text": "spastic paraplegia", "start": 46, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "This study was to detect 12 BCL3-PVRL2-TOMM40 SNPs, gene-gene and gene-environment interactions on dyslipidemia in the Chinese Maonan population.", "output": {"entities": {"gene": [{"text": "PVRL2", "start": 33, "end": 38}], "disease": [{"text": "dyslipidemia", "start": 99, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PVRL2", "start": 33, "end": 38}, "tail": {"text": "dyslipidemia", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "A trend for association between depression severity and PDYN variation was detected.", "output": {"entities": {"gene": [{"text": "PDYN", "start": 56, "end": 60}], "disease": [{"text": "depression", "start": 32, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDYN", "start": 56, "end": 60}, "tail": {"text": "depression", "start": 32, "end": 42}}]}}, "schema": []}
{"input": "Untreated diabetes of short duration resulted in hypercalciuria and intestinal calcium malabsorption despite increased free concentrations of serum 1, 25-dihydroxyvitamin D. The concentrations of two vitamin D-dependent calcium-binding proteins were also decreased: a low duodenal calbindin-D 9K concentration corresponding to the low intestinal active calcium absorption and a low serum osteocalcin concentration, corresponding to a low bone formation and highly correlated with serum IGF-I concentration.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 486, "end": 491}], "disease": [{"text": "malabsorption", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The mutations detected so far show that various mutations in the MRP2 gene can lead to the Dubin-Johnson syndrome.", "output": {"entities": {"gene": [{"text": "MRP2", "start": 65, "end": 69}], "disease": [{"text": "Dubin-Johnson syndrome", "start": 91, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MRP2", "start": 65, "end": 69}, "tail": {"text": "Dubin-Johnson syndrome", "start": 91, "end": 113}}]}}, "schema": []}
{"input": "Despite the absence of CCK receptors from many gastrointestinal adenocarcinomas, evidence from animal models and from tumour cell lines in vitro suggests that the CCK-2 receptor may contribute to the development of esophageal and gastric adenocarcinomas, and further experimental work in these areas is clearly warranted.", "output": {"entities": {"gene": [{"text": "CCK", "start": 23, "end": 26}], "disease": [{"text": "esophageal", "start": 215, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Similarly, NUCB2 mRNA content was also higher (× 1. 8) in male suicides, whereas in female suicide victims, these contents were × 2. 7 lower compared to controls.", "output": {"entities": {"gene": [{"text": "NUCB2", "start": 11, "end": 16}], "disease": [{"text": "suicide", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "This dissociation of SLI and ChAT indicates that a cortical cholinergic deficit does not invariably lead to reduction of somatostatin.", "output": {"entities": {"gene": [{"text": "SLI", "start": 21, "end": 24}], "disease": [{"text": "dissociation", "start": 5, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the increased expression of homeobox gene DLX4 may be a contributing factor to the developmental abnormalities seen in the FGR-affected placentae.", "output": {"entities": {"gene": [{"text": "DLX4", "start": 59, "end": 63}], "disease": [{"text": "abnormalities", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Insulin resistance was coupled to ablation of insulin-stimulated GLUT4 translocation in skeletal muscle from PAK1 (-/-) knock-out mice, and in sharp contrast to islet beta cells, skeletal muscle PAK1 loss was underscored by defective cofilin phosphorylation but normal ERK1/2 activation.", "output": {"entities": {"gene": [{"text": "PAK1", "start": 109, "end": 113}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The quantitation of bcl-2/IgH translocation-positive cells was sensitive and reproducible, capable of detecting as few as five malignant cells out of 300, 000 normal cells.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 20, "end": 25}], "disease": [{"text": "translocation", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The HPT-JT syndrome and FIHP are autosomal dominant disorders that may be caused by abnormalities of the HRPT2 gene, located on chromosome 1q31. 2.", "output": {"entities": {"gene": [{"text": "HRPT2", "start": 105, "end": 110}], "disease": [{"text": "HPT-JT", "start": 4, "end": 10}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRPT2", "start": 105, "end": 110}, "tail": {"text": "HPT-JT", "start": 4, "end": 10}}]}}, "schema": []}
{"input": "Elp3 genetic ablation strongly impaired invasion and metastasis formation in the PyMT model of invasive breast cancer.", "output": {"entities": {"gene": [{"text": "Elp3", "start": 0, "end": 4}], "disease": [{"text": "breast cancer", "start": 104, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Elp3", "start": 0, "end": 4}, "tail": {"text": "breast cancer", "start": 104, "end": 117}}]}}, "schema": []}
{"input": "Finally, the recently cloned t (12; 21) translocation has been found to involve the TEL gene (coding for a novel TF) on 12p13, and AML1 on 21q22.", "output": {"entities": {"gene": [{"text": "AML1", "start": 131, "end": 135}], "disease": [{"text": "translocation", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "To explore the effects of genetic variation in the PTH pathway, we have analysed variations in PTH, PTHLH, PTHR1 and PTHR2 in relation to bone mass and fracture incidence in elderly women.", "output": {"entities": {"gene": [{"text": "PTH", "start": 51, "end": 54}], "disease": [{"text": "bone mass", "start": 138, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "STXBP1-related encephalopathy may present as drug-responsive infantile spasms with focal/lateralized discharges.", "output": {"entities": {"gene": [{"text": "STXBP1", "start": 0, "end": 6}], "disease": [{"text": "infantile spasms", "start": 61, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STXBP1", "start": 0, "end": 6}, "tail": {"text": "infantile spasms", "start": 61, "end": 77}}]}}, "schema": []}
{"input": "We also report a novel amino acid substitution mutation in codon 192 of KRT2E (asparagine to lysine) in the conserved 1A helix initiation peptide of the protein in the patient with IBS.", "output": {"entities": {"gene": [{"text": "KRT2E", "start": 72, "end": 77}], "disease": [{"text": "IBS", "start": 181, "end": 184}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT2E", "start": 72, "end": 77}, "tail": {"text": "IBS", "start": 181, "end": 184}}]}}, "schema": []}
{"input": "Covariates included age, gender, diabetes, iron parameters, intravenous iron dose, parathyroid hormone, albumin, phosphorus, body mass index, vascular access type, hospitalization/missed treatments, smoking status, alcohol abuse, and gastrointestinal bleeding.", "output": {"entities": {"gene": [{"text": "parathyroid hormone", "start": 83, "end": 102}], "disease": [{"text": "gastrointestinal bleeding", "start": 234, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "The presentations in these children include features of acrocallosal syndrome, such as hypoplasia of the corpus callosum, enlarged ventricles, facial dysmorphism with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe growth retardation.", "output": {"entities": {"gene": [{"text": "KIF7", "start": 326, "end": 330}], "disease": [{"text": "hypoplasia of the corpus callosum", "start": 87, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The molecular pathway that subverts CSR to mediate trans-chromosomal joining of Myc and Smu (translocation origin) and secondary modification of Myc-Igh junctions (translocation \" remodeling \") has not been elucidated, but recent evidence indicates that it includes CSR factors, such as the activation-induced cytidine deaminase (AID), that may also be involved in the ongoing neoplastic progression of the translocation-bearing tumor precursor.", "output": {"entities": {"gene": [{"text": "AID", "start": 330, "end": 333}], "disease": [{"text": "translocation", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that recombinant human erythropoietin may be useful as a therapy to prevent paclitaxel-induced sensory polyneuropathy in patients undergoing chemotherapy.", "output": {"entities": {"gene": [{"text": "erythropoietin", "start": 46, "end": 60}], "disease": [{"text": "polyneuropathy", "start": 126, "end": 140}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "erythropoietin", "start": 46, "end": 60}, "tail": {"text": "polyneuropathy", "start": 126, "end": 140}}]}}, "schema": []}
{"input": "Genetic epidemiology of insulin resistance and visceral adiposity. The IRAS Family Study design and methods.", "output": {"entities": {"gene": [{"text": "IRAS", "start": 71, "end": 75}], "disease": [{"text": "insulin resistance", "start": 24, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The frequencies of causative alterations such as loss of methylation (LOM) of KvDMR1, hypermethylation of H19-DMR, paternal uniparental disomy, CDKN1C gene mutation, and chromosome abnormality have been described for North American and European patients, but the corresponding frequencies in Japanese patients have not been measured to date.", "output": {"entities": {"gene": [{"text": "DMR", "start": 80, "end": 83}], "disease": [{"text": "chromosome abnormality", "start": 170, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The results of this study suggest that MAP3K6 regulates VEGF expression in both normoxia and hypoxia, and that regulation of VEGF by MAP3K6 may play a crucial role in both angiogenesis and tumorigenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 56, "end": 60}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "There were no significant associations between CTLA-4 exon-1 + 49 A/G polymorphism and autoimmune or lymphoid hyperplasia and granulomatous disease in this mostly Caucasian CVID patient population.", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 47, "end": 53}], "disease": [{"text": "lymphoid hyperplasia", "start": 101, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We report here that high-fat-diet-fed ABHD6-KO mice show modestly reduced food intake, decreased body weight gain and glycemia, improved glucose tolerance and insulin sensitivity, and enhanced locomotor activity.", "output": {"entities": {"gene": [{"text": "ABHD6", "start": 38, "end": 43}], "disease": [{"text": "body weight gain", "start": 97, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Three hereditary gastric cancer syndromes have been described; hereditary diffuse gastric cancer (HDGC), familial intestinal gastric cancer (FIGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).", "output": {"entities": {"gene": [{"text": "FIGC", "start": 141, "end": 145}], "disease": [{"text": "gastric cancer", "start": 17, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Haplotype analysis of CDG-Ic patients revealed a founder effect for the ALG6 allele bearing the A333 V mutation.", "output": {"entities": {"gene": [{"text": "ALG6", "start": 72, "end": 76}], "disease": [{"text": "CDG-Ic", "start": 22, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALG6", "start": 72, "end": 76}, "tail": {"text": "CDG-Ic", "start": 22, "end": 28}}]}}, "schema": []}
{"input": "Widespread depigmentation related to the risk of presence of autoantibodies (P = 0. 03) in sporadic cases of vitiligo (especially of PCA: P = 0. 04 and ANA: P = 0. 0002).", "output": {"entities": {"gene": [{"text": "ANA", "start": 152, "end": 155}], "disease": [{"text": "depigmentation", "start": 11, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Sequence analysis revealed the presence of mutations in the K2e gene in patients with ichthyosis bullosa of Siemens.", "output": {"entities": {"gene": [{"text": "K2e", "start": 60, "end": 63}], "disease": [{"text": "ichthyosis bullosa of Siemens", "start": 86, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K2e", "start": 60, "end": 63}, "tail": {"text": "ichthyosis bullosa of Siemens", "start": 86, "end": 115}}]}}, "schema": []}
{"input": "The discovery that MR-1 mutations underlie PDC provides opportunities to explore this condition' s pathophysiologic characteristics and may provide insight into the causes of other paroxysmal neurologic disorders as well as the neurophysiologic mechanisms of alcohol and caffeine, which frequently precipitate PDC attacks.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 19, "end": 23}], "disease": [{"text": "neurologic disorders", "start": 192, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "mRNA and protein expression and tissue distribution of P-gps, MRPs, OATP2 and NTCP were assessed in HCC and peritumorous non-neoplastic tissue by reverse transcription polymerase chain reaction, Western blotting and immunohistochemistry, respectively.", "output": {"entities": {"gene": [{"text": "NTCP", "start": 78, "end": 82}], "disease": [{"text": "non-neoplastic", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In a clinical sample of 26 patients with PSD and 25 unrelated nondepressed stroke patients of Caucasian descent, we examined the frequencies of a functional single nucleotide variant (A/G) within the promoter region (rs25531) and located in L (16-repeat) and S (14-repeat) alleles of 5-HTTLPR, and a variable number tandem repeat (VNTR) polymorphism in intron 2.", "output": {"entities": {"gene": [{"text": "PSD", "start": 41, "end": 44}], "disease": [{"text": "stroke", "start": 75, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Renal tumor xenografts, derived from subcutaneous injection of QTRRE cells into nude mice, also display increases in cytosolic mislocalization of p27 and cyclin D1.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 154, "end": 163}], "disease": [{"text": "Renal tumor", "start": 0, "end": 11}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cyclin D1", "start": 154, "end": 163}, "tail": {"text": "Renal tumor", "start": 0, "end": 11}}]}}, "schema": []}
{"input": "Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.", "output": {"entities": {"gene": [{"text": "QDPR", "start": 65, "end": 69}], "disease": [{"text": "Dihydropteridine reductase deficiency", "start": 0, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "QDPR", "start": 65, "end": 69}, "tail": {"text": "Dihydropteridine reductase deficiency", "start": 0, "end": 37}}]}}, "schema": []}
{"input": "In ATP7B-positive tumors, adjacent non-neoplastic tissue was similarly analyzed, revealing that ATP7B is upregulated in gastric carcinoma.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 3, "end": 8}], "disease": [{"text": "non-neoplastic", "start": 35, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In cases carrying a MALT1 translocation, FISH for API2-MALT1 was performed, whereas in those carrying an IGH translocation, FISH was performed for BCL10, BCL6, BCL2, c-MYC and/or CCND1.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 20, "end": 25}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "To further define the in vivo role of GPBAR1 in inflammation, we assessed GPBAR1 expression and found high levels on circulating mouse monocytes.", "output": {"entities": {"gene": [{"text": "GPBAR1", "start": 38, "end": 44}], "disease": [{"text": "inflammation", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Dysferlin and/or dysferlin mRNA abnormalities are diagnostic for dysferlinopathy when mutational analysis detects a mutation in one allele only.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 17, "end": 26}], "disease": [{"text": "abnormalities", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Sequence analysis of the whole LGI1 gene coding regions in sporadic patients did not reveal changes in the LGI1 gene.", "output": {"entities": {"gene": [{"text": "LGI1 gene", "start": 31, "end": 40}], "disease": [{"text": "sporadic", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In tail bleeding time assays, FXI-/-animals may have slightly prolonged bleeding compared to FXI +/+ and FXI +/-animals, however, a consistent hemostatic deficit has not been identified.", "output": {"entities": {"gene": [{"text": "FXI", "start": 30, "end": 33}], "disease": [{"text": "bleeding", "start": 8, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Autosomal-dominant medullary cystic kidney disease (ADMCKD) is characterized by the development of cysts at the corticomedullary border of the kidneys.", "output": {"entities": {"gene": [{"text": "ADMCKD", "start": 52, "end": 58}], "disease": [{"text": "cysts", "start": 99, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Over time, the definition was modified and now includes diffuse large B-cell lymphoma (DLBCL) with MYC translocation combined with an additional translocation involving BCL2 or BCL6.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 169, "end": 173}], "disease": [{"text": "translocation", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In a mouse model of pneumonia induced by P. aeruginosa, Morf4l1 is stabilized by acetylation that protects it from Fbxl18-mediated degradation.", "output": {"entities": {"gene": [{"text": "Fbxl18", "start": 115, "end": 121}], "disease": [{"text": "pneumonia", "start": 20, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Leptin is an adipocyte-secreted hormone involved in body weight regulation, acting through the leptin receptor, localised centrally in the hypothalamus as well as peripherally, amongst others on adipose tissue.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 95, "end": 110}], "disease": [{"text": "body weight", "start": 52, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that miR-340 inhibits the tumorigenic phenotype of melanoma cells.", "output": {"entities": {"gene": [{"text": "miR-340", "start": 19, "end": 26}], "disease": [{"text": "melanoma", "start": 65, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-340", "start": 19, "end": 26}, "tail": {"text": "melanoma", "start": 65, "end": 73}}]}}, "schema": []}
{"input": "We hypothesized that this may be the result of a direct effect of prolactin on atherogenesis through activation of the prolactin receptor.", "output": {"entities": {"gene": [{"text": "prolactin receptor", "start": 119, "end": 137}], "disease": [{"text": "atherogenesis", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "This technique would have been less helpful in nine cases, that is, bisatellited SMC, isochromosomes and translocation derivatives.", "output": {"entities": {"gene": [{"text": "SMC", "start": 81, "end": 84}], "disease": [{"text": "translocation", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Loss of heterozygosity for DMBT1 was more frequent in HCC tumour area and non-tumoral cirrhotic tissue adjacent to HCC, compared with other HBV-related liver diseases (P < 0. 05).", "output": {"entities": {"gene": [{"text": "HCC", "start": 54, "end": 57}], "disease": [{"text": "liver diseases", "start": 152, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Analysis of a panel of mammalian cell lines showed an increased mRNA and protein expression of specifically myosin IC isoform A in a panel of human and mouse prostate cancer cell lines but not in non-cancer prostate or other (non-prostate-) cancer cell lines.", "output": {"entities": {"gene": [{"text": "myosin IC", "start": 108, "end": 117}], "disease": [{"text": "cancer", "start": 167, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to determine if incomplete ERG abnormalities would be associated with heterozygous carriers of dystrophin gene mutations.", "output": {"entities": {"gene": [{"text": "ERG", "start": 39, "end": 42}], "disease": [{"text": "abnormalities", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In order to investigate whether there is a genetic association of the biotransformation enzymes and idiopathic male fertility, we studied GSTT1, GSTM1, and CYP1A1 * 2A polymorphisms in 150 infertile men and 200 healthy men as controls from Northern Iran.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 156, "end": 162}], "disease": [{"text": "infertile", "start": 189, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Recent advances in artificial liver support have used albumin as a binding and scavenging molecule in ALF.", "output": {"entities": {"gene": [{"text": "albumin", "start": 54, "end": 61}], "disease": [{"text": "ALF", "start": 102, "end": 105}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "albumin", "start": 54, "end": 61}, "tail": {"text": "ALF", "start": 102, "end": 105}}]}}, "schema": []}
{"input": "Over 50 different TRPV4 mutations have been reported, with two codons appearing to be mutational hot spots: P799 in exon 15, mostly associated with MD, and R594 in exon 11, associated with SMDK.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 18, "end": 23}], "disease": [{"text": "MD", "start": 148, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPV4", "start": 18, "end": 23}, "tail": {"text": "MD", "start": 148, "end": 150}}]}}, "schema": []}
{"input": "Here we describe in detail the clinical and biochemical features in a boy affected by AHDS with severe neurological abnormalities and a novel de novo SLC16A2 gene insertion, 1343-1344insGCCC, resulting in a truncated protein lacking the last four transmembrane domains (TMDs) as well as the carboxyl cytoplasmic end.", "output": {"entities": {"gene": [{"text": "SLC16A2 gene", "start": 150, "end": 162}], "disease": [{"text": "abnormalities", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell count (RBC).", "output": {"entities": {"gene": [{"text": "MCH", "start": 201, "end": 204}], "disease": [{"text": "mean corpuscular volume", "start": 141, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Introduction of FOXA1 and HOXB13 into an immortalized prostate cell line reprogrammed the AR cistrome to resemble that of a prostate tumor, functionally linking these specific factors to AR cistrome reprogramming.", "output": {"entities": {"gene": [{"text": "FOXA1", "start": 16, "end": 21}], "disease": [{"text": "prostate tumor", "start": 124, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FOXA1", "start": 16, "end": 21}, "tail": {"text": "prostate tumor", "start": 124, "end": 138}}]}}, "schema": []}
{"input": "The distribution of allelic frequencies of the GABRA5 locus differed significantly between BP patients and controls with the 282-bp allele found to be associated with BP affective disorder, while no such difference was observed between the groups of UP patients and controls nor between the two patient groups.", "output": {"entities": {"gene": [{"text": "GABRA5", "start": 47, "end": 53}], "disease": [{"text": "affective disorder", "start": 170, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA5", "start": 47, "end": 53}, "tail": {"text": "affective disorder", "start": 170, "end": 188}}]}}, "schema": []}
{"input": "Among all the autosomal recessive rare bleeding disorders, which include afibrinogenaemia, factor (F) II, FV, FV + VIII, FVII, FX, FXI, FXIII, the combined deficiency of coagulation FV and FVIII (F5F8D or FV + FVIII) is exceptional because it is due to mutations in genes encoding proteins involved in the FV and FVIII intracellular transport (LMAN1 and MCFD2) rather than DNA defects in the genes that encode the corresponding coagulation factors.", "output": {"entities": {"gene": [{"text": "FXI", "start": 131, "end": 134}], "disease": [{"text": "afibrinogenaemia", "start": 73, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "JMJD1A regulates the expression of adrenomedullin (ADM) and growth and differentiation factor 15 (GDF15) under hypoxia by decreasing promoter histone methylation.", "output": {"entities": {"gene": [{"text": "ADM", "start": 51, "end": 54}], "disease": [{"text": "hypoxia", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Fifty resected lung AD were included (M: F = 23: 27, smokers: non-smokers = 19: 31, EGFR mutant: wild-type = 21: 29) with LATS2 mRNA levels showed no significant difference between gender, age, smoking and pathological stages while LATS2 immunohistochemical staining on an independent set of 79 lung AD showed similar trend.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 84, "end": 88}], "disease": [{"text": "smoking", "start": 194, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "HLA DR5 was associated with relapsing thyrotoxicosis, whereas HLA DR7 and B12 were negatively correlated with relapse.", "output": {"entities": {"gene": [{"text": "B12", "start": 74, "end": 77}], "disease": [{"text": "thyrotoxicosis", "start": 38, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Here, we examined the potential associations of common variants of the SLC12A3 gene with blood pressure traits in Mongolians in China.", "output": {"entities": {"gene": [{"text": "SLC12A3 gene", "start": 71, "end": 83}], "disease": [{"text": "blood pressure", "start": 89, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The spontaneous up-regulation of utrophin, observed in dystrophin-deficient skeletal muscle fibers, may decrease the susceptibility of such fibers to necrosis.", "output": {"entities": {"gene": [{"text": "utrophin", "start": 33, "end": 41}], "disease": [{"text": "necrosis", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "To investigate the molecular mechanism of nectin-like molecule 1 (NECL1) inhibiting the migration and invasion of U251 glioma cells.", "output": {"entities": {"gene": [{"text": "nectin", "start": 42, "end": 48}], "disease": [{"text": "glioma", "start": 119, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The positive impact of MT5-MMP deficiency was still noticeable at 16 months of age, as illustrated by reduced amyloid burden and gliosis, and a better preservation of the cortical neuronal network and synaptophysin levels in bigenic mice.", "output": {"entities": {"gene": [{"text": "MT5-MMP", "start": 23, "end": 30}], "disease": [{"text": "amyloid", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Adrenomedullin (ADM) was identified as one of the most significantly upregulated genes in DKs5 cells that express the KRAS oncogene in hypoxia (3. 2-fold, p = 1. 47 × 10 (-5)).", "output": {"entities": {"gene": [{"text": "ADM", "start": 16, "end": 19}], "disease": [{"text": "hypoxia", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Several stromal cell subtypes including macrophages contribute to tumor progression by inducing epithelial-mesenchymal transition (EMT) at the invasive front, a mechanism also linked to metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 131, "end": 134}], "disease": [{"text": "tumor progression", "start": 66, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Cholesteryl ester transfer protein (CETP) deficiency is one of the most important and common causes of hyperalphalipoproteinemia (HALP) in the Japanese.", "output": {"entities": {"gene": [{"text": "Cholesteryl ester transfer protein", "start": 0, "end": 34}], "disease": [{"text": "CETP) deficiency", "start": 36, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Cholesteryl ester transfer protein", "start": 0, "end": 34}, "tail": {"text": "CETP) deficiency", "start": 36, "end": 52}}]}}, "schema": []}
{"input": "Our data indicate that resveratrol modulates the effect of MED28 on cellular migration, presumably through the EGFR/phosphatidylinositol 3-kinase (PI3K) signaling pathway, in breast cancer cells.", "output": {"entities": {"gene": [{"text": "MED28", "start": 59, "end": 64}], "disease": [{"text": "breast cancer", "start": 175, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MED28", "start": 59, "end": 64}, "tail": {"text": "breast cancer", "start": 175, "end": 188}}]}}, "schema": []}
{"input": "The existence of distinguishing molecular features was explored in a series of serrated polyps and matched normal mucosa from patients with and without hyperplastic polyposis by assessing mutation of BRAF, DNA methylation in 14 markers (MINTs 1, 2 and 31, p16, MGMT, MLH1, RASSF1, RASSF2, NORE1 (RASSF5), RKIP, MST1, DAPK, FAS, and CHFR), and immunoexpression of MLH1.", "output": {"entities": {"gene": [{"text": "RKIP", "start": 305, "end": 309}], "disease": [{"text": "polyps", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, the present study has been initiated to investigate whether the changes in plasma level of endothelin-1 and nitric oxide along with cardiac nitric oxide are associated with the development of doxorubicin-induced cardiomyopathy.", "output": {"entities": {"gene": [{"text": "endothelin-1", "start": 104, "end": 116}], "disease": [{"text": "cardiomyopathy", "start": 225, "end": 239}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "endothelin-1", "start": 104, "end": 116}, "tail": {"text": "cardiomyopathy", "start": 225, "end": 239}}]}}, "schema": []}
{"input": "Angiotensin II, interstitial inflammation, and the pathogenesis of salt-sensitive hypertension.", "output": {"entities": {"gene": [{"text": "Angiotensin II", "start": 0, "end": 14}], "disease": [{"text": "inflammation", "start": 29, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angiotensin II", "start": 0, "end": 14}, "tail": {"text": "inflammation", "start": 29, "end": 41}}]}}, "schema": []}
{"input": "Cigarette smoke extract did not affect VEGF secretion neither in hypoxia nor in normoxia, whereas the secretion of all cytokines was inhibited by the extract in both conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 39, "end": 43}], "disease": [{"text": "hypoxia", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The finding that IL-6 and RANTES modulate, respectively, survival and migration of peripheral lymphocytes of myasthenic patients point to MAPK transcriptional and posttranscriptional abnormalities of MG-TEC as a key step in the pathological remodelling of myasthenic thymus.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 26, "end": 32}], "disease": [{"text": "abnormalities", "start": 183, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of GLT8D1 were significantly higher in patients with MDD than in controls (P & #160; = & #160; 0. 021).", "output": {"entities": {"gene": [{"text": "GLT8D1", "start": 25, "end": 31}], "disease": [{"text": "MDD", "start": 75, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLT8D1", "start": 25, "end": 31}, "tail": {"text": "MDD", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "Ischemic volumes calculated from each MR images, which are related to infarction and/or vasogenic edema, respectively, were significantly smaller in the antagonist group as compared with the PBS group (P < 0. 05) Our study is the first to provide evidence that the inhibition of VEGF attenuates VP and reduces CVI in the acute stage.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 279, "end": 283}], "disease": [{"text": "infarction", "start": 70, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Increased Cdc7 protein levels were significantly associated with arrested tumor differentiation (P = 0. 004), advanced clinical stage (P = 0. 01), genomic instability (P < 0. 001), and accelerated cell cycle progression.", "output": {"entities": {"gene": [{"text": "Cdc7", "start": 10, "end": 14}], "disease": [{"text": "genomic instability", "start": 147, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.", "output": {"entities": {"gene": [{"text": "GPAA1", "start": 13, "end": 18}], "disease": [{"text": "Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia", "start": 71, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPAA1", "start": 13, "end": 18}, "tail": {"text": "Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia", "start": 71, "end": 136}}]}}, "schema": []}
{"input": "Notably, interactions between cancer cells, stromal cells, and the extracellular matrix (ECM) are crucial to angiogenesis and tumorigenesis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 89, "end": 92}], "disease": [{"text": "tumorigenesis", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "14q32/IGH translocation partners were identified in eight cases (BCL2 in five cases, BCL11A, CCND3 and CDK6 in one case each).", "output": {"entities": {"gene": [{"text": "BCL2", "start": 65, "end": 69}], "disease": [{"text": "translocation", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The most common is the translocation t (11; 18) (q21; q21), which results in a fusion of the cIAP2 region on chromosome 11q21 with the MALT1 gene on chromosome 18q21 and is present in more than one-third of cases.", "output": {"entities": {"gene": [{"text": "MALT1 gene", "start": 135, "end": 145}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative deficiencies of the fibrinogen receptor, & #945; IIb & #946; 3, an integrin coded by the ITGA2B and ITGB3 genes.", "output": {"entities": {"gene": [{"text": "ITGA2B", "start": 186, "end": 192}], "disease": [{"text": "GT", "start": 61, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGA2B", "start": 186, "end": 192}, "tail": {"text": "GT", "start": 61, "end": 63}}]}}, "schema": []}
{"input": "To address the role of the JNK2 isoform in metabolic homeostasis, we intercrossed Jnk1 (-/-) and Jnk2 (-/-) mice and examined body weight and glucose metabolism in the resulting mutant allele combinations.", "output": {"entities": {"gene": [{"text": "Jnk2", "start": 97, "end": 101}], "disease": [{"text": "body weight", "start": 126, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "This methylation leads to MST1 inactivation and activation of YAP target genes in tumour cells, which elicits osteoclast differentiation and bone metastasis.", "output": {"entities": {"gene": [{"text": "MST1", "start": 26, "end": 30}], "disease": [{"text": "metastasis", "start": 146, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MST1", "start": 26, "end": 30}, "tail": {"text": "metastasis", "start": 146, "end": 156}}]}}, "schema": []}
{"input": "Here we report mutation analysis of the DHCR7 gene in SLOS patients from Poland (n = 15), Germany/Austria (n = 22) and Great Britain (n = 22).", "output": {"entities": {"gene": [{"text": "DHCR7", "start": 40, "end": 45}], "disease": [{"text": "SLOS", "start": 54, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DHCR7", "start": 40, "end": 45}, "tail": {"text": "SLOS", "start": 54, "end": 58}}]}}, "schema": []}
{"input": "The APC and cyclin D2 gene promoters were both unmethylated in the aspiration fluids from 19 women with nonmalignant breast disease.", "output": {"entities": {"gene": [{"text": "cyclin D2 gene", "start": 12, "end": 26}], "disease": [{"text": "aspiration", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "To further understand the mechanism of the effect of PAI-1 on tumor angiogenesis, especially newly established tumor vasculature in early tumor progression, stable transfectants (TO-PAI-1) of the human prostate adenocarcinoma, PC3, were generated in which PAI-1 expression is under the control of the tetracycline-responsive promoter (Tet-On system).", "output": {"entities": {"gene": [{"text": "PC3", "start": 227, "end": 230}], "disease": [{"text": "prostate adenocarcinoma", "start": 202, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "To genetically characterize childhood melanoma, 21 pediatric patients were studied by germ-line analysis of CDKN2A, CDK4, and MC1R genes.", "output": {"entities": {"gene": [{"text": "MC1R", "start": 126, "end": 130}], "disease": [{"text": "childhood melanoma", "start": 28, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Using pancreatic carcinoma cell lines and gene transfectant, we measured long pentraxin (PTX3) level in culture solution and carried out cellular migration assay in vitro.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 89, "end": 93}], "disease": [{"text": "pancreatic carcinoma", "start": 6, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) is upregulated by hypoxia and is a major stimulatory factor for choroidal neovascularization.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxia", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In heterozygotes with the (-alpha/-alpha) and in those with the (--/-alpha) alpha-globin genotype the imbalance was actually reversed with a mild or marked alpha-chain synthesis excess respectively.", "output": {"entities": {"gene": [{"text": "alpha-chain", "start": 156, "end": 167}], "disease": [{"text": "mild", "start": 141, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Genetic knockout of NRF2 demonstrates its role in developmentally regulated & #947;-globin gene expression and the ability to control oxidative stress and the phenotypic severity of SCD.", "output": {"entities": {"gene": [{"text": "NRF2", "start": 20, "end": 24}], "disease": [{"text": "SCD", "start": 182, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRF2", "start": 20, "end": 24}, "tail": {"text": "SCD", "start": 182, "end": 185}}]}}, "schema": []}
{"input": "The frequency and clinical correlations of MLL gene amplification in leukemia will need careful follow-up, since the frequently cryptic amplification described in these cases may not generally provoke confirmatory FISH studies.", "output": {"entities": {"gene": [{"text": "FISH", "start": 214, "end": 218}], "disease": [{"text": "leukemia", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Intrathecal injection of MC4R antagonist HS014 (5 μg/day) at the moment of CCI for seven days attenuated thermal hyperalgesia and mechanical allodynia.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 25, "end": 29}], "disease": [{"text": "mechanical allodynia", "start": 130, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Native human astrocytes were exposed to hypoxia or cytokines, including interleukin-6 (IL-6), IL-1beta, tumor necrosis factor-alpha (TNF-alpha), IL-10, transforming growth factor-alpha (TGF-alpha), and TGF-beta for 0-20 hr.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 202, "end": 210}], "disease": [{"text": "hypoxia", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The present data indicate that ERbeta ligands in combination with TMX may have tumor static effects on colon cancer cells.", "output": {"entities": {"gene": [{"text": "TMX", "start": 66, "end": 69}], "disease": [{"text": "colon cancer", "start": 103, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Tumors with increased p-FADD expression showed elevated NF-kappaB (P = 0. 004) activation, a frequent molecular alteration associated with tumorigenesis and metastasis in a variety of cancers.", "output": {"entities": {"gene": [{"text": "FADD", "start": 24, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "To investigate the possible contribution of GJA7 mutations to deafness, we sequenced the GJA7 gene in 341 unrelated probands with nonsyndromic hearing loss from Turkey, South Africa, United Kingdom, United States, and China.", "output": {"entities": {"gene": [{"text": "GJA7", "start": 44, "end": 48}], "disease": [{"text": "deafness", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "GATA1 interacts with the TP53 tumor suppressor gene, and both GATAs have been shown to be involved in cell growth, apoptosis, and tumorigenesis of several solid tumors.", "output": {"entities": {"gene": [{"text": "GATA1", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Remarkably, breast cancer cells that survive reductions in levels of Mps1 have relatively less aneuploidy, as measured by copies of specific chromosomes, compared with cells that have constitutively high levels of Mps1.", "output": {"entities": {"gene": [{"text": "Mps1", "start": 69, "end": 73}], "disease": [{"text": "aneuploidy", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate for the first time that the STK15 polymorphism is a genetic susceptibility factor for the occurrence and aggression of ESCC.", "output": {"entities": {"gene": [{"text": "STK15", "start": 52, "end": 57}], "disease": [{"text": "aggression", "start": 129, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We evaluated both early and downstream T-cell receptor activation pathways after ex vivo stimulation with anti-CD3 and anti-CD28 crosslink in CD4 (+) T cells from 20 patients with non-ST-segment elevation myocardial infarction (NSTEMI), 20 with stable angina (SA), and 20 controls.", "output": {"entities": {"gene": [{"text": "CD4", "start": 142, "end": 145}], "disease": [{"text": "stable angina", "start": 245, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "The peptidyl prolyl isomerase Pin1 frequently is overexpressed in hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "Pin1", "start": 30, "end": 34}], "disease": [{"text": "hepatocellular carcinoma", "start": 66, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that IL-21 should be considered as a suitable candidate for glioma immunotherapy by local delivery.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 27, "end": 32}], "disease": [{"text": "glioma", "start": 82, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Filamin A (FLNA) mutations have been reported in some families and in sporadic patients.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 11, "end": 15}], "disease": [{"text": "sporadic", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Both, AHI1 and C6orf217 appear to be highly relevant candidate genes for schizophrenia.", "output": {"entities": {"gene": [{"text": "C6orf217", "start": 15, "end": 23}], "disease": [{"text": "schizophrenia", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C6orf217", "start": 15, "end": 23}, "tail": {"text": "schizophrenia", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "We evaluated transglutaminase 5 expression in comparison with proliferating (keratin 14) and differentiating (transglutaminase 3) markers in different diseases, such as psoriasis, ichthyosis vulgaris, lamellar ichthyosis, and Darier' s disease.", "output": {"entities": {"gene": [{"text": "keratin 14", "start": 77, "end": 87}], "disease": [{"text": "lamellar ichthyosis", "start": 201, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease characterized by brain and retinal atrophy and the intracellular accumulation of autofluorescent lysosomal storage bodies resembling lipofuscin in neurons and other cells.", "output": {"entities": {"gene": [{"text": "NCL", "start": 32, "end": 35}], "disease": [{"text": "retinal atrophy", "start": 107, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In insulin-resistant individuals, there was an inverse correlation between insulin sensitivity and plasma MNA (r = 0. 44, p = 0. 01) or adipose tissue NNMT mRNA (r = 0. 64, p < 0. 001).", "output": {"entities": {"gene": [{"text": "NNMT", "start": 151, "end": 155}], "disease": [{"text": "insulin sensitivity", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Increased occurrence of the speA gene among scarlet fever and TSLS-associated strains does not seem to be sufficient to support the hypothesis that ETA may have a causative role in both diseases since a considerable number of strains in these groups did not possess the speA gene.", "output": {"entities": {"gene": [{"text": "ETA", "start": 148, "end": 151}], "disease": [{"text": "scarlet fever", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In addition, an independent individual with X-linked cone-rod dystrophy demonstrated a 1-nt insertion (insA) in ORF15.", "output": {"entities": {"gene": [{"text": "ORF15", "start": 112, "end": 117}], "disease": [{"text": "cone-rod dystrophy", "start": 53, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ORF15", "start": 112, "end": 117}, "tail": {"text": "cone-rod dystrophy", "start": 53, "end": 71}}]}}, "schema": []}
{"input": "A sustained hemoglobin (Hb) level greater than 8 g/dl was considered as a response to EPO treatment.", "output": {"entities": {"gene": [{"text": "EPO", "start": 86, "end": 89}], "disease": [{"text": "hemoglobin", "start": 12, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Thus, the signaling cascades that regulate COX-2 expression are different in HPV-infected papilloma cells, with a significant contribution by the EGFR--Rac1--> p38 pathway.", "output": {"entities": {"gene": [{"text": "p38", "start": 160, "end": 163}], "disease": [{"text": "papilloma", "start": 90, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Additional screening for CHEK2 mutations in 149 families with familial prostate cancer revealed 11 mutations (5 unique) in nine families.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 25, "end": 30}], "disease": [{"text": "familial prostate cancer", "start": 62, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHEK2", "start": 25, "end": 30}, "tail": {"text": "familial prostate cancer", "start": 62, "end": 86}}]}}, "schema": []}
{"input": "Stimulation under hypoxic conditions induced higher expression of HIF-1alpha and VEGF mRNA than treatment with either IL-1beta or hypoxia alone.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 81, "end": 85}], "disease": [{"text": "hypoxia", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the factor V Leiden gene mutation is not a risk factor for arterial thrombosis causing stroke.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 31, "end": 46}], "disease": [{"text": "arterial thrombosis", "start": 86, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Failure to repair replication-associated errors due to a defective MMR system allows persistence of mismatch mutations all over the genome, but especially in regions of repetitive DNA known as microsatellites, giving rise to the phenomenon of microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 67, "end": 70}], "disease": [{"text": "microsatellite instability", "start": 243, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Prompted by our previous findings that the potent angiogenic factor, vascular endothelial growth factor (VEGF), is hypoxia-inducible, we used in situ hybridization techniques to examine the thesis that VEGF functions as the link between retinal ischemia and a pathologic, intraocular, angiogenic response.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 105, "end": 109}], "disease": [{"text": "hypoxia", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Here we report an Asian patient with prominent systemic features that we diagnosed with CDG-Ia resulting from two new mutations in the PMM2 gene (310C--& gt; G resulting in L104V and an intronic mutation IVS1-1G--& gt; A).", "output": {"entities": {"gene": [{"text": "PMM2", "start": 135, "end": 139}], "disease": [{"text": "CDG-Ia", "start": 88, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMM2", "start": 135, "end": 139}, "tail": {"text": "CDG-Ia", "start": 88, "end": 94}}]}}, "schema": []}
{"input": "Four tumor types implanted in the brain or subcutis in nude mice were studied: a murine rhabdomyosarcoma (M1S), a murine mammary carcinoma (EMT), and two human glioblastomas (U87 and U251).", "output": {"entities": {"gene": [{"text": "EMT", "start": 140, "end": 143}], "disease": [{"text": "rhabdomyosarcoma", "start": 88, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele.", "output": {"entities": {"gene": [{"text": "CSPP1", "start": 32, "end": 37}], "disease": [{"text": "Meckel-Gruber syndrome", "start": 341, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CSPP1", "start": 32, "end": 37}, "tail": {"text": "Meckel-Gruber syndrome", "start": 341, "end": 363}}]}}, "schema": []}
{"input": "Variants at the FTO, TMEM18, FAIM2, RBJ, ZNF608 and QPCTL loci yielded nominal evidence for association with BMI and/or overweight risk (p < 0. 05).", "output": {"entities": {"gene": [{"text": "FTO", "start": 16, "end": 19}], "disease": [{"text": "overweight", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Deletions of the exons with regulatory potential of DYNC1I1 are an example of the emerging role of exonic enhancer elements and their implications in congenital malformation syndromes.", "output": {"entities": {"gene": [{"text": "DYNC1I1", "start": 52, "end": 59}], "disease": [{"text": "congenital malformation", "start": 150, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Although the present data do allow conclusions on the role of a superantigen in triggering the anti-AChR autoimmune response, the finding that different V beta regions were used in different patients does not support an important role of a superantigen in the maintenance of the CD4 + response in myasthenia gravis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 279, "end": 282}], "disease": [{"text": "myasthenia gravis", "start": 297, "end": 314}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the DNMT3L promoter showed low levels of methylation in polyps and normal colonic mucosa relative to matched disease free cells with methylation level negatively correlated to expression level in normal colonic tissue.", "output": {"entities": {"gene": [{"text": "DNMT3L", "start": 19, "end": 25}], "disease": [{"text": "polyps", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The proportion of collagen production to total protein production was much higher in all six desmoid tumors compared with human skin fibroblasts (HSF).", "output": {"entities": {"gene": [{"text": "HSF", "start": 146, "end": 149}], "disease": [{"text": "desmoid tumors", "start": 93, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "H & E and Masson staining revealed that blockade of IL-17 can improve myocardial fibrosis in HF.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 52, "end": 57}], "disease": [{"text": "myocardial fibrosis", "start": 70, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "A de novo missense mutation in the KRT6A gene, I462S, has been found in a sporadic PC-1 patient.", "output": {"entities": {"gene": [{"text": "PC-1", "start": 83, "end": 87}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We also tested the hypothesis that NXY-059 would reduce alteplase-related intracranial hemorrhages.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 56, "end": 65}], "disease": [{"text": "intracranial hemorrhages", "start": 74, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alteplase", "start": 56, "end": 65}, "tail": {"text": "intracranial hemorrhages", "start": 74, "end": 98}}]}}, "schema": []}
{"input": "The aim of study was to compare the influence of vitamin D receptor (VDR) genotype on the PTH level and bone mineral density (BMD) in 67 patients, including 45 immunosuppressed with cyclosporine (CsA) and 22 with tacrolimus (Tac) versus 147 healthy volunteers.", "output": {"entities": {"gene": [{"text": "PTH", "start": 90, "end": 93}], "disease": [{"text": "bone mineral density", "start": 104, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "To better understand the role and the mechanism of increased Sp1 levels on apoptosis, we used adenovirus to ectopically express GFP-Sp1 protein in various cancer cell lines.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 61, "end": 64}], "disease": [{"text": "adenovirus", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Sixteen pathologists of the European Working Group for Breast Screening Pathology reviewed the core biopsies of breast cancers treated with NAC and recorded the clinico-pathological findings (histological type and grade; estrogen, progesterone receptors, and HER2 status; Ki67; mitotic count; tumor-infiltrating lymphocytes; necrosis) and data regarding the pathological response in corresponding surgical resection specimens.", "output": {"entities": {"gene": [{"text": "NAC", "start": 140, "end": 143}], "disease": [{"text": "necrosis", "start": 325, "end": 333}]}, "relations": {}}, "schema": []}
{"input": "In this study, we measured the serum L-PGDS concentration using sandwich enzyme-linked immunosorbent assay (ELISA) and investigated the association with traditional cardiovascular risk factors and surrogate atherosclerotic indices, such as the maximum score of the intima-media complex thickness of the carotid artery (C-IMT (max)) and the brachial-ankle pulse wave velocity (ba-PWV), in 500 non-treated asymptomatic subjects.", "output": {"entities": {"gene": [{"text": "L-PGDS", "start": 37, "end": 43}], "disease": [{"text": "asymptomatic", "start": 404, "end": 416}]}, "relations": {}}, "schema": []}
{"input": "In situ hybridization (ISH) and immunohistochemistry (IHC) were used to detect vascular endothelial growth factor (VEGF) mRNA and protein expression in sections of glioma xenografts and spheroids in which hypoxic regions and regions with well-oxygenated necrosis were identified on contiguous sections by use of the hypoxia-specific marker, 3H-misonidazole.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 115, "end": 119}], "disease": [{"text": "hypoxia", "start": 316, "end": 323}]}, "relations": {}}, "schema": []}
{"input": "The influence of the CEBPA status on event-free survival (EFS) and overall survival (OS) was assessed using log-rank test and a multivariate Cox proportional hazard regression model.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 21, "end": 26}], "disease": [{"text": "regression", "start": 165, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (ηp (2) =. 065) and depression (ηp (2) =. 059), and for DRD2 rs2283265, depression (ηp (2) =. 053).", "output": {"entities": {"gene": [{"text": "DAT1", "start": 13, "end": 17}], "disease": [{"text": "depression", "start": 111, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Importantly, CD4 + and CD8 + lymphocytes were shown to express T1-and T2-type cytokine message, emphasizing the potential for CD8 + T-lymphocytes to participate in periodontal disease pathology.", "output": {"entities": {"gene": [{"text": "CD4", "start": 13, "end": 16}], "disease": [{"text": "periodontal disease", "start": 164, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "A partial trisomy 3 (bands 3q11-29) and overexpression of Bcl-2 without t (14; 18) translocation was detected in the monoclonal B cells that were classic rheumatoid factor-producing B cells bearing the WA cross-idiotype.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 58, "end": 63}], "disease": [{"text": "translocation", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Protein O-GlcNAcylation was intense in the hearts of CD36-defective SHR compared with that of wild-type CD36 rats [Wister Kyoto rats (WKY)], indicating the shunt of glucose through the hexosamine biosynthetic pathway (HBP).", "output": {"entities": {"gene": [{"text": "HBP", "start": 218, "end": 221}], "disease": [{"text": "shunt", "start": 156, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1. 4-1. 1/Kvbeta1. 1 and Kv1. 4-1. 1/Kvbeta1. 2.", "output": {"entities": {"gene": [{"text": "KCNA1", "start": 40, "end": 45}], "disease": [{"text": "Episodic ataxia type 1", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNA1", "start": 40, "end": 45}, "tail": {"text": "Episodic ataxia type 1", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "In conclusion, PRMT3 translocation by PA is coupled to the binding of LXRα, which is responsible for the onset of fatty liver.", "output": {"entities": {"gene": [{"text": "PRMT3", "start": 15, "end": 20}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed.", "output": {"entities": {"gene": [{"text": "GLDC", "start": 65, "end": 69}], "disease": [{"text": "NKH", "start": 117, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLDC", "start": 65, "end": 69}, "tail": {"text": "NKH", "start": 117, "end": 120}}]}}, "schema": []}
{"input": "To observe the influence of different moxibustion durations on hypothalamic pro-opiomelanocortin (POMC) and prodynorphin (PDYN) mRNA expressions and plasma beta-endorphin (beta-EP) content in rheumatoid arthritis (RA) rats, to understand the mechanism of moxibustion analgesia and its dose-effect relationship.", "output": {"entities": {"gene": [{"text": "PDYN", "start": 122, "end": 126}], "disease": [{"text": "rheumatoid arthritis", "start": 192, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Results from this study provide the first evidence for a direct effect of cocaine abuse on TR/RXR signaling, RA metabolism, and transcriptional regulation of Ng, a gene essential for adult neuroplasticity.", "output": {"entities": {"gene": [{"text": "Ng", "start": 158, "end": 160}], "disease": [{"text": "cocaine abuse", "start": 74, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ng", "start": 158, "end": 160}, "tail": {"text": "cocaine abuse", "start": 74, "end": 87}}]}}, "schema": []}
{"input": "Three closely related proteins, ezrin, radixin, and moesin (ERM), which primarily act as a linker between the plasma membrane and the cytoskeleton, are involved in many cellular functions, including regulation of actin cytoskeleton, control of cell shape, adhesion and motility, and modulation of signaling pathways.", "output": {"entities": {"gene": [{"text": "radixin", "start": 39, "end": 46}], "disease": [{"text": "adhesion", "start": 256, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "HER1, stage, ER and PAR1 overexpression were robustly correlated (Cox regression, P = 0. 002, P = 0. 024 and P = 0. 002 respectively).", "output": {"entities": {"gene": [{"text": "HER1", "start": 0, "end": 4}], "disease": [{"text": "regression", "start": 70, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "This mouse model demonstrates phenotypic overlap with Verloes Bourguignon syndrome, also caused by mutation of LTBP3, which is hallmarked by craniofacial anomalies and amelogenesis imperfecta phenotypes.", "output": {"entities": {"gene": [{"text": "LTBP3", "start": 111, "end": 116}], "disease": [{"text": "Verloes Bourguignon syndrome", "start": 54, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LTBP3", "start": 111, "end": 116}, "tail": {"text": "Verloes Bourguignon syndrome", "start": 54, "end": 82}}]}}, "schema": []}
{"input": "Further work is needed to assess WAVE3 as a potential marker for predicting tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "WAVE3", "start": 33, "end": 38}], "disease": [{"text": "aggressiveness", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Early-onset antisocial behavior in a high-risk clinical group is predicted by a specific COMT gene variant previously linked with prefrontal cortical function and birth weight, and those possessing the val/val genotype are more susceptible to the adverse effects of prenatal risk as indexed by lower birth weight.", "output": {"entities": {"gene": [{"text": "COMT gene", "start": 89, "end": 98}], "disease": [{"text": "birth weight", "start": 163, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "As alpha defensins are important in the mucosal antibacterial barrier, their diminished expression may explain, in part, the bacterial induced mucosal inflammation and ileal involvement of Crohn' s disease, especially in the case of NOD2 mutations.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 233, "end": 237}], "disease": [{"text": "mucosal inflammation", "start": 143, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We undertook a comprehensive analysis between 100 tagging single nucleotide polymorphisms (tagSNPs) in genes encoding for DHCR7, CYP2R1, VDBP, CYP27B1, CYP27A1, CYP24A1, VDR and RXRG, and obesity traits in 5224 participants (aged 45 years) in the 1958 British birth cohort (1958BC).", "output": {"entities": {"gene": [{"text": "CYP2R1", "start": 129, "end": 135}], "disease": [{"text": "obesity", "start": 188, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "In previous studies, serum starvation led to induction of VEGF in human colon carcinoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 58, "end": 62}], "disease": [{"text": "starvation", "start": 27, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Hepatic expression of MMTV-LV is evident in a wide range of non-cirrhotic and cirrhotic liver diseases, irrespective of ER-alpha, PgR or p53 status, and unrelated to complicating HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 179, "end": 182}], "disease": [{"text": "liver diseases", "start": 88, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Our further results showed no difference in malignancy inhibition induced by let-7a in 4 glioma cells, including U87 (PTEN null), U251 (PTEN mutant), LN229 (PTEN wild type), and LN229 (PTEN small interfering RNA).", "output": {"entities": {"gene": [{"text": "U87", "start": 113, "end": 116}], "disease": [{"text": "glioma", "start": 89, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Following a report of a linkage study that yielded evidence for a susceptibility locus for bipolar affective disorder on the long arm of chromosome 21, we studied 23 multiply affected pedigrees collected from Iceland and the UK, using the markers PFKL, D21S171, and D21S49.", "output": {"entities": {"gene": [{"text": "PFKL", "start": 247, "end": 251}], "disease": [{"text": "bipolar affective disorder", "start": 91, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PFKL", "start": 247, "end": 251}, "tail": {"text": "bipolar affective disorder", "start": 91, "end": 117}}]}}, "schema": []}
{"input": "To investigate the involvement of S100A13 in human cutaneous melanoma, we analyzed a series of 87 cutaneous melanocytic lesions: 14 common acquired melanocytic nevi, 14 atypical, so-called' dysplastic' nevi, 45 melanomas (17 radial growth phase and 28 vertical growth phase) and 14 melanoma metastases.", "output": {"entities": {"gene": [{"text": "S100A13", "start": 34, "end": 41}], "disease": [{"text": "nevi", "start": 160, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We report that GPRC5B-deficient mice were protected from diet-induced obesity and insulin resistance because of reduced inflammation in their white adipose tissue.", "output": {"entities": {"gene": [{"text": "GPRC5B", "start": 15, "end": 21}], "disease": [{"text": "insulin resistance", "start": 82, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Our findings show that gliomas immunohistochemically express Topo-IIalpha that is correlated with PCNA expression, and which is significantly less frequent in long survivors.", "output": {"entities": {"gene": [{"text": "Topo-IIalpha", "start": 61, "end": 73}], "disease": [{"text": "gliomas", "start": 23, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Topo-IIalpha", "start": 61, "end": 73}, "tail": {"text": "gliomas", "start": 23, "end": 30}}]}}, "schema": []}
{"input": "The pathophysiology of PRS in HPP differs from the three other genetic defects known to cause PRS, but all may lead to brain PLP deficiency reducing seizure thresholds.", "output": {"entities": {"gene": [{"text": "PLP", "start": 125, "end": 128}], "disease": [{"text": "seizure", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Linkage of c-Harvey-ras-1 and INS DNA markers to unipolar depression and alcoholism is ruled out in 18 families.", "output": {"entities": {"gene": [{"text": "INS", "start": 30, "end": 33}], "disease": [{"text": "unipolar depression", "start": 49, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "INS", "start": 30, "end": 33}, "tail": {"text": "unipolar depression", "start": 49, "end": 68}}]}}, "schema": []}
{"input": "GPC3 protein was immunoexpressed in 68% of cancerous tissues, but not in adjacent non-neoplastic parenchyma and control liver tissues.", "output": {"entities": {"gene": [{"text": "GPC3", "start": 0, "end": 4}], "disease": [{"text": "non-neoplastic", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Heme oxygenase 1 (HO-1) and its metabolites have been implicated in the cytoprotective defense against oxidative injury in atherogenesis.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 18, "end": 22}], "disease": [{"text": "atherogenesis", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Bipolar affective disorder (BAD) is a psychiatric illness characterized by episodes of mania and depression.", "output": {"entities": {"gene": [{"text": "BAD", "start": 28, "end": 31}], "disease": [{"text": "depression", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Polymerase chain reaction (PCR) using primer pairs for the BCL2 exons 1 and 2, and for the constant region of the immunoglobulin kappa light chain gene (IGkappa) revealed PCR products encompassing the 5'-BCL2/IGkappa fusion, indicating that the YM cells had a t (2; 18) (p11; q21) translocation.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 59, "end": 63}], "disease": [{"text": "translocation", "start": 281, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "GnRHa markedly increased the expression of Fas and induced the expression of Fas ligand in the cultured leiomyoma cells on the basis of Western blot analysis.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 77, "end": 87}], "disease": [{"text": "leiomyoma", "start": 104, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Dufaston therapy of glandular cystic hyperplasia and zoladex therapy of adenomatous hyperplasia normalized expression of Fas receptor, PCNA, and insulin-like growth factor 1 genes, while the expression of IFN-gamma and IL-6 genes, which was normal in hyperplasia, decreased (p < 0. 05).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 219, "end": 223}], "disease": [{"text": "hyperplasia", "start": 37, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "This study supports the notion that defects in the autophagy pathway and more specifically in mTor and Atg7 are associated with neurodegeneration in DLB cases and alpha-synuclein transgenic models and supports the possibility that modulators of the autophagy pathway might have potential therapeutic effects.", "output": {"entities": {"gene": [{"text": "Atg7", "start": 103, "end": 107}], "disease": [{"text": "neurodegeneration", "start": 128, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether endothelial and smooth muscle cell-derived neuropilin-like protein (ESDN) is a marker of vascular remodeling in GA. Immunostaining of human coronary arteries demonstrated high levels of ESDN in GA, but not in normal arteries.", "output": {"entities": {"gene": [{"text": "ESDN", "start": 92, "end": 96}], "disease": [{"text": "vascular remodeling", "start": 113, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In most specimens, the levels of CTGF mRNA correlated with the degree of inflammation as assessed by histological analysis of adjacent tissue samples and by expression analysis of the pro-inflammatory cytokine interleukin-1 beta.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 33, "end": 37}], "disease": [{"text": "inflammation", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "PTTG mRNA was unchanged by incubating U87 cells with the promalignant growth factor TGFbeta, apoptosis inducing TNFalpha and ligands for nuclear receptors, such as retinoic acid and retinoid X receptors and peroxisome proliferator-activated receptor-gamma, known for their growth-inhibitory and apoptosis-inducing effects on gliomas.", "output": {"entities": {"gene": [{"text": "U87", "start": 38, "end": 41}], "disease": [{"text": "gliomas", "start": 325, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "Such an epigenetic modification in GALR3, a hyperpolarizing receptor, might contribute to the dysregulation of noradrenergic and serotonergic neurons implicated in the pathogenesis of MDD.", "output": {"entities": {"gene": [{"text": "GALR3", "start": 35, "end": 40}], "disease": [{"text": "MDD", "start": 184, "end": 187}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GALR3", "start": 35, "end": 40}, "tail": {"text": "MDD", "start": 184, "end": 187}}]}}, "schema": []}
{"input": "Pentobarbital anesthetized rats subjected to Noble-Collip drum trauma developed a shock state characterized by marked hypotension, significant increases in plasma cathepsin D (4. 2-fold), free amino-nitrogen (2. 8-fold) and myocardial depressant factor (4. 7-fold) activities and a survival time of 1. 62 +/-0. 16 h. Treatment with BN 50739 (10 mg/kg, i. v.)", "output": {"entities": {"gene": [{"text": "cathepsin D", "start": 163, "end": 174}], "disease": [{"text": "hypotension", "start": 118, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Two cell-binding domain adhesive peptides, 4N1K (KRFYVVMWKK) and 7N3 (FIRVVMYEGKK), failed to either inhibit or support SS-RBC adhesion to TSP.", "output": {"entities": {"gene": [{"text": "TSP", "start": 139, "end": 142}], "disease": [{"text": "adhesion", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Moreover, silencing of PTPN1 by RNA interference in Hodgkin lymphoma cell line KM-H2 resulted in hyperphosphorylation and overexpression of downstream oncogenic targets.", "output": {"entities": {"gene": [{"text": "PTPN1", "start": 23, "end": 28}], "disease": [{"text": "Hodgkin lymphoma", "start": 52, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTPN1", "start": 23, "end": 28}, "tail": {"text": "Hodgkin lymphoma", "start": 52, "end": 68}}]}}, "schema": []}
{"input": "Downregulation of GATA4 and GATA6 in the heart of rats with nitrofen-induced diaphragmatic hernia.", "output": {"entities": {"gene": [{"text": "GATA4", "start": 18, "end": 23}], "disease": [{"text": "diaphragmatic hernia", "start": 77, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GATA4", "start": 18, "end": 23}, "tail": {"text": "diaphragmatic hernia", "start": 77, "end": 97}}]}}, "schema": []}
{"input": "Human Fli-1 was also shown to be rearranged in Ewing' s sarcoma cases, in which the amino-terminal region of the Fli-1 gene was replaced with a novel coding region of a putative RNA-binding protein, EWS.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 178, "end": 197}], "disease": [{"text": "sarcoma", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results suggest that the anti-cancer effect of Omega-3 PUFAs on gastric cancer is at least partly dependent on activating the ADORA1-mediated apoptosis pathway.", "output": {"entities": {"gene": [{"text": "ADORA1", "start": 146, "end": 152}], "disease": [{"text": "cancer", "start": 50, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Simultaneous expression of FGF-2 and VEGF in Tet-FGF-2 cells resulted in fast-growing lesions characterized by high blood vessel density, patency and permeability, and limited necrosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 37, "end": 41}], "disease": [{"text": "necrosis", "start": 176, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "By defining the chromosomal breakpoint of a balanced t (10; 12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty.", "output": {"entities": {"gene": [{"text": "WDR11", "start": 205, "end": 210}], "disease": [{"text": "translocation", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Genome DNAs were extracted from the patient' s blood and small-intestinal cancer and were subjected to a polymerase chain reaction-single strand conformation polymorphism and nucleotide sequence analysis for exons of the p53 and PTEN/MMAC1 genes to search for any mutations.", "output": {"entities": {"gene": [{"text": "MMAC1", "start": 234, "end": 239}], "disease": [{"text": "intestinal cancer", "start": 63, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Attempts to create cell lines that stably expressed OVCA1 from the cytomegalovirus promoter were generally unsuccessful in a variety of different cell lines.", "output": {"entities": {"gene": [{"text": "OVCA1", "start": 52, "end": 57}], "disease": [{"text": "cytomegalovirus", "start": 67, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The patients with major depression exhibited significantly higher haptoglobin plasma levels than the healthy comparison subjects and the patients with minor depression.", "output": {"entities": {"gene": [{"text": "haptoglobin", "start": 66, "end": 77}], "disease": [{"text": "major depression", "start": 18, "end": 34}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "haptoglobin", "start": 66, "end": 77}, "tail": {"text": "major depression", "start": 18, "end": 34}}]}}, "schema": []}
{"input": "Striking similarities were found when comparing the vertebral ossification defects in SMMD patients with those observed in the Nkx3-2 null mice.", "output": {"entities": {"gene": [{"text": "Nkx3-2", "start": 127, "end": 133}], "disease": [{"text": "SMMD", "start": 86, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Nkx3-2", "start": 127, "end": 133}, "tail": {"text": "SMMD", "start": 86, "end": 90}}]}}, "schema": []}
{"input": "MOR internalization was restricted to the lumbar spinal cord, regardless of whether the peptidase inhibitors were injected in a lumbar or thoracic site.", "output": {"entities": {"gene": [{"text": "MOR", "start": 0, "end": 3}], "disease": [{"text": "thoracic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "S100A7 expression was present in 63 out of 136 (46%) of DCIS lesions and was associated with estrogen receptor negative status (P = 0. 0002), higher nuclear grade (P < 0. 0001), necrosis (P < 0. 0001) and inflammation (P < 0. 0001).", "output": {"entities": {"gene": [{"text": "S100A7", "start": 0, "end": 6}], "disease": [{"text": "necrosis", "start": 178, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "The origin of NGAL from tubule cells was confirmed in cultured human proximal tubule cells subjected to in vitro ischemic injury, where NGAL mRNA was rapidly induced in the cells and NGAL protein was readily detectable in the culture medium within 1 h of mild ATP depletion.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 14, "end": 18}], "disease": [{"text": "mild", "start": 255, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "GS-9620 treatment was associated with reversible increases in serum liver enzymes and thrombocytopenia, and induced intrahepatic CD8 (+) T cell, NK cell, B cell and interferon response transcriptional signatures.", "output": {"entities": {"gene": [{"text": "CD8", "start": 129, "end": 132}], "disease": [{"text": "thrombocytopenia", "start": 86, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Quantitative real-time PCR demonstrated that the mean ratio of FGFR3 mRNA to glyceraldehyde-3-phosphate dehydrogenase (GADPH) mRNA in HCC tissue was 0. 250, whereas the ratio in non-neoplastic liver tissue was 0. 014.", "output": {"entities": {"gene": [{"text": "HCC", "start": 134, "end": 137}], "disease": [{"text": "non-neoplastic", "start": 178, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The proteasome inhibitor bortezomib repressed the transcription of Notch1 and downstream effectors including Hes1, GATA3, RUNX3 and nuclear factor-κB (NF-κB) (p65 and p50), coincided with downregulation of the major transactivator Sp1 and its dissociation from Notch1 promoter.", "output": {"entities": {"gene": [{"text": "p65", "start": 159, "end": 162}], "disease": [{"text": "dissociation", "start": 243, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 43, "end": 47}], "disease": [{"text": "muscular dystrophy", "start": 80, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Both androgen receptor (AR) and orphan receptor TR2 (TR2) belong to the steroid nuclear receptor superfamily and are expressed in prostate cancer tissue and cell lines.", "output": {"entities": {"gene": [{"text": "TR2", "start": 48, "end": 51}], "disease": [{"text": "prostate cancer", "start": 130, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to investigate genistein as a potential regulator of C-JUN, C-FOS and FOS-B of AP-1 subunits expression in skin keratinocytes, fibroblasts and keloid fibroblasts cultured in vitro.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 104, "end": 108}], "disease": [{"text": "keloid", "start": 168, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The surgical outcome was evaluated by performing clinical investigations (IOP, bleb area, height and survival), as well as histomorphometric analyses of angiogenesis (CD31), inflammation (CD45) and fibrosis (Sirius Red).", "output": {"entities": {"gene": [{"text": "CD45", "start": 188, "end": 192}], "disease": [{"text": "inflammation", "start": 174, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Here, we used a microsatellite instability assay and MLH1 immunohistochemistry to identify a subset of endometrial carcinomas of the endometrioid subtype lacking MMR.", "output": {"entities": {"gene": [{"text": "MMR", "start": 162, "end": 165}], "disease": [{"text": "microsatellite instability", "start": 16, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Thus, additional steps must be involved in the clonal expansion of the FL tumor cell beyond the activation of bcl-2 as a consequence of the t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 110, "end": 115}], "disease": [{"text": "translocation", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Factor XI (FXI) deficiency is an inherited autosomal recessive disorder associated with bleeding of variable severity.", "output": {"entities": {"gene": [{"text": "FXI", "start": 11, "end": 14}], "disease": [{"text": "bleeding", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Activation of GCN2 suppressed proinflammatory cytokine production in glomeruli and reduced macrophage recruitment to the kidney during the incipient stage of Ab-induced glomerular inflammation.", "output": {"entities": {"gene": [{"text": "GCN2", "start": 14, "end": 18}], "disease": [{"text": "inflammation", "start": 180, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Altogether, these data suggest local roles for epithelial BV8 and EG-VEGF in the CF airway peribronchial vascular remodeling and highlighted the role of CFTR activity in both ligand biosynthesis and secretion.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 153, "end": 157}], "disease": [{"text": "vascular remodeling", "start": 105, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "This is the first report that shows that CSNB-associated mutations in three different domains of mGluR6 abolish proper protein trafficking.", "output": {"entities": {"gene": [{"text": "mGluR6", "start": 97, "end": 103}], "disease": [{"text": "CSNB", "start": 41, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "mGluR6", "start": 97, "end": 103}, "tail": {"text": "CSNB", "start": 41, "end": 45}}]}}, "schema": []}
{"input": "A recombinant lentivirus expressing NOB1 short hairpin RNA (shNOB1) was constructed and infected into U251 and U87-MG human glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 111, "end": 114}], "disease": [{"text": "glioma", "start": 124, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "At codon 16 of the beta2-AR gene, maternal Arg-16 homozygosity protects against, and Gly-16 predisposes to spontaneous preterm birth.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 25, "end": 32}], "disease": [{"text": "spontaneous preterm birth", "start": 107, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "MRC was associated with less discomfort than CC.", "output": {"entities": {"gene": [{"text": "MRC", "start": 0, "end": 3}], "disease": [{"text": "discomfort", "start": 29, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We propose that individuals with EP300 mutations may exhibit a slightly different phenotype compared to individuals with CREBBP mutations, with milder cognitive impairment, more pronounced microcephaly, absent or mild downslanting of palpebral fissures, distinct arched eyebrows, and greater degree of retrognathia.", "output": {"entities": {"gene": [{"text": "CREBBP", "start": 121, "end": 127}], "disease": [{"text": "mild", "start": 144, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "The incidence of RER was 15. 7% (17/103) in nonfamilial colorectal carcinomas, and only 1 case, which was found in the ascending colon, showed a somatic mutation at exon 12 in the hMSH2 gene.", "output": {"entities": {"gene": [{"text": "RER", "start": 17, "end": 20}], "disease": [{"text": "somatic mutation", "start": 145, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In humans, FGF21 correlates with body mass index (BMI), but studies evaluating other parameters show inconsistent results.", "output": {"entities": {"gene": [{"text": "FGF21", "start": 11, "end": 16}], "disease": [{"text": "body mass index", "start": 33, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Moreover, mutations in the gene encoding NDP, a ligand for these Wnt receptors, cause Norrie disease and FEVR.", "output": {"entities": {"gene": [{"text": "NDP", "start": 41, "end": 44}], "disease": [{"text": "Norrie disease", "start": 86, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDP", "start": 41, "end": 44}, "tail": {"text": "Norrie disease", "start": 86, "end": 100}}]}}, "schema": []}
{"input": "Because hypoxia and 5-HTT gene polymorphism control 5-HTT expression, we examined 5-HTT gene polymorphism and PH in hypoxemic patients with advanced chronic obstructive pulmonary disease (COPD).", "output": {"entities": {"gene": [{"text": "HTT gene", "start": 22, "end": 30}], "disease": [{"text": "hypoxia", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "At an effector cells/target cells ratio (E/T) of 5, it was proved by dual-color FACS with propidium iodide (PI) and FITC-annexin V that both necrosis and apoptosis of tumor cells were causes of tumor specific cytolysis.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 121, "end": 130}], "disease": [{"text": "necrosis", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "A comprehensive study of polymorphisms in the ABCB1, ABCC2, ABCG2, NR1I2 genes and lymphoma risk.", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 60, "end": 65}], "disease": [{"text": "lymphoma", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Moreover, MYC rearrangements occurred as the sole translocation in the majority of cases (77%), whereas across all DLBCLs the majority of MYC-rearranged cases carry additional rearrangements of either BCL2 and/or BCL6 genes (between 58% and 83% of cases).", "output": {"entities": {"gene": [{"text": "BCL2", "start": 201, "end": 205}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We report a 5-year-old Japanese boy diagnosed with cerebral infarction and unilateral MMD.", "output": {"entities": {"gene": [{"text": "MMD", "start": 86, "end": 89}], "disease": [{"text": "cerebral infarction", "start": 51, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We examined the expression of eotaxin, eotaxin-2, RANTES, monocyte chemoattractant protein-3 (MCP-3), MCP-4, and CCR3 in the bronchial mucosa from atopic (AA) and nonatopic (intrinsic; NAA) asthmatics and compared our findings with atopic (AC) and nonatopic nonasthmatic controls (NC).", "output": {"entities": {"gene": [{"text": "CCR3", "start": 113, "end": 117}], "disease": [{"text": "atopic", "start": 147, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The generally null effect of TRAP on allergic rhinitis and aeroallergen sensitization was not modified by the studied variants in the GSTP1, TNF, TLR2, or TLR4 genes.", "output": {"entities": {"gene": [{"text": "TRAP", "start": 29, "end": 33}], "disease": [{"text": "rhinitis", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "EGF-SubA was well tolerated in mice and led to a significant tumor growth delay in a glioma xenograft mouse model.", "output": {"entities": {"gene": [{"text": "EGF", "start": 0, "end": 3}], "disease": [{"text": "growth delay", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We show here that CDKL5 is a nuclear protein whose expression in the nervous system overlaps with that of MeCP2, during neural maturation and synaptogenesis.", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 106, "end": 111}], "disease": [{"text": "nervous system", "start": 69, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Multiple infections were more common among women with no (32%) or LSIL (51%) [versus 23% in high-grade SIL/cancer], partially explaining the lack of a dose response using a cumulative HC2 viral load measure.", "output": {"entities": {"gene": [{"text": "HC2", "start": 184, "end": 187}], "disease": [{"text": "viral load", "start": 188, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that increased levels of pantetheinase activity are part of the inflammatory-regenerative epidermal differentiation program, and may contribute to the phenotype observed in psoriasis.", "output": {"entities": {"gene": [{"text": "pantetheinase", "start": 40, "end": 53}], "disease": [{"text": "psoriasis", "start": 188, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pantetheinase", "start": 40, "end": 53}, "tail": {"text": "psoriasis", "start": 188, "end": 197}}]}}, "schema": []}
{"input": "In total, 34 B27 + patients with SpA, 28 age-and sex-matched healthy controls (20 B27-and 8 B27 +), and 9 patients with rheumatoid arthritis were studied.", "output": {"entities": {"gene": [{"text": "B27", "start": 13, "end": 16}], "disease": [{"text": "rheumatoid arthritis", "start": 120, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Concentric dyskeratotic cells in CIS keratin pearls became positive for keratin (K) 10, K17, heme oxygenase-1 (HO-1), or protease activated receptor-2 (PAR-2), a candidate regulator for hemophagocytosis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 152, "end": 155}], "disease": [{"text": "hemophagocytosis", "start": 186, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Detection of ASPL/TFE3 fusion transcripts and the TFE3 antigen in formalin-fixed, paraffin-embedded tissue in a series of 18 cases of alveolar soft part sarcoma: useful diagnostic tools in cases with unusual histological features.", "output": {"entities": {"gene": [{"text": "ASPL", "start": 13, "end": 17}], "disease": [{"text": "alveolar soft part sarcoma", "start": 134, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASPL", "start": 13, "end": 17}, "tail": {"text": "alveolar soft part sarcoma", "start": 134, "end": 160}}]}}, "schema": []}
{"input": "Although the in vitro studies demonstrated the ability of viperin to restrict influenza H1N1 virus replication, the viperin-deficient mouse model indicated that absence of viperin enhanced neither the viral load nor pulmonary damage in the lungs of infected mice.", "output": {"entities": {"gene": [{"text": "viperin", "start": 58, "end": 65}], "disease": [{"text": "viral load", "start": 201, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "The results showed that Ct-OATP1B3 mRNA could be found in all serum EV and CRC tissue samples of the mice examined.", "output": {"entities": {"gene": [{"text": "OATP1B3", "start": 27, "end": 34}], "disease": [{"text": "CRC", "start": 75, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OATP1B3", "start": 27, "end": 34}, "tail": {"text": "CRC", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "Adoptive transfer of SOCS3-short interfering RNA-silenced macrophages into a peritonitis model demonstrated the importance of SOCS3 in driving production of pro-inflammatory IL-6 and nitric oxide, while curtailing expression of anti-inflammatory IL-10 and SOCS1.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 174, "end": 178}], "disease": [{"text": "peritonitis", "start": 77, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "A number of mutations in GATA4 and NKX2. 5 have been identified to be causative for a subset of familial congenital heart defects (CHDs) and a small number of sporadic CHDs.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 35, "end": 42}], "disease": [{"text": "sporadic", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "BAM8-22 or MSH, given i. t., generated instant short and delayed long-lasting attenuations of CFA-induced thermal hyperalgesia, but not mechanical allodynia.", "output": {"entities": {"gene": [{"text": "MSH", "start": 11, "end": 14}], "disease": [{"text": "mechanical allodynia", "start": 136, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "To detect the t (11; 18) chromosome translocation in different stages of mucosa-associated lymphoid tissue (MALT) lymphoma, we established a RT-PCR method by adopting three new primer pairs and using the RNA extracted from the paraffin tissues to amplify the t (11; 18) fusion gene API2-MALT1 in shorter lengths.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 287, "end": 292}], "disease": [{"text": "chromosome translocation", "start": 25, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Protein kinase A potentiates adrenal 4 binding protein/steroidogenic factor 1 transactivation by reintegrating the subcellular dynamic interactions of the nuclear receptor with its cofactors, general control nonderepressed-5/transformation/transcription domain-associated protein, and suppressor, dosage-sensitive sex reversal-1: a laser confocal imaging study in living KGN cells.", "output": {"entities": {"gene": [{"text": "transformation/transcription domain-associated protein", "start": 225, "end": 279}], "disease": [{"text": "sex reversal", "start": 314, "end": 326}]}, "relations": {}}, "schema": []}
{"input": "We then sequenced RARB in 15 subjects with anophthalmia and/or microphthalmia and at least one other feature of PDAC syndrome.", "output": {"entities": {"gene": [{"text": "RARB", "start": 18, "end": 22}], "disease": [{"text": "PDAC", "start": 112, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RARB", "start": 18, "end": 22}, "tail": {"text": "PDAC", "start": 112, "end": 116}}]}}, "schema": []}
{"input": "The present case is the first individual described with DPM1-CDG (CDG-Ie) to also have clinical and muscle biopsy findings consistent with dystroglycanopathy.", "output": {"entities": {"gene": [{"text": "DPM1", "start": 56, "end": 60}], "disease": [{"text": "CDG-Ie", "start": 66, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DPM1", "start": 56, "end": 60}, "tail": {"text": "CDG-Ie", "start": 66, "end": 72}}]}}, "schema": []}
{"input": "The authors demonstrated that RIZ1 expression is lost in thyroid tumor cell lines and is also significantly reduced in thyroid carcinomas, when compared with normal thyroid tissues (P & lt;. 0001) and benign tumors (P =. 0003).", "output": {"entities": {"gene": [{"text": "RIZ1", "start": 30, "end": 34}], "disease": [{"text": "thyroid tumor", "start": 57, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RIZ1", "start": 30, "end": 34}, "tail": {"text": "thyroid tumor", "start": 57, "end": 70}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the relationship between genetic variants of the adrenergic beta3 receptor (ADRB3) and the G-protein beta3 subunit (GNB3) and clozapine-induced body weight change (BWC).", "output": {"entities": {"gene": [{"text": "beta3", "start": 101, "end": 106}], "disease": [{"text": "body weight change", "start": 185, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrated that thyroxin therapy normalized the electrophysiological and molecular effects of hypothyroidism on the CA1 region and emphasized the critical role P-CaMKII plays in hypothyroidism-induced LTP impairment.", "output": {"entities": {"gene": [{"text": "CA1", "start": 130, "end": 133}], "disease": [{"text": "hypothyroidism", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Exposure to hypoxia induced significant expression of CXCR4 and HIF-1alpha in glioma cells, whereas treatment with exogenous VEGF increased CXCR4 expression in HBMECs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 125, "end": 129}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The direct sequencing of the polymerase chain reaction-amplified product of reverse-transcribed HPRT mRNA enabled the rapid identification of the mutations found in 17 previously uncharacterized cell lines derived from patients with the Lesch-Nyhan syndrome.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 96, "end": 100}], "disease": [{"text": "Lesch-Nyhan syndrome", "start": 237, "end": 257}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HPRT", "start": 96, "end": 100}, "tail": {"text": "Lesch-Nyhan syndrome", "start": 237, "end": 257}}]}}, "schema": []}
{"input": "Patients with this genetic form of KS have been reported to have a possible increased prevalence of obesity and sleep disorders, which may be related to the role of PROK2 and PROKR2 in food intake and circadian rhythms.", "output": {"entities": {"gene": [{"text": "PROKR2", "start": 175, "end": 181}], "disease": [{"text": "circadian rhythms", "start": 201, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Thus, ARF can suppress cell migration by antagonizing CtBP2 and the phosphatidylinositol 3-kinase pathway, and these data may explain the increased aggressiveness of ARF-null tumors in mouse models.", "output": {"entities": {"gene": [{"text": "CtBP2", "start": 54, "end": 59}], "disease": [{"text": "aggressiveness", "start": 148, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Here we show that human mammary epithelial cells (HMECs) from BRCA1-mutation carriers (BRCA1 (mut/+)) exhibit increased genomic instability and rapid telomere erosion in the absence of tumour-suppressor loss.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 62, "end": 67}], "disease": [{"text": "genomic instability", "start": 120, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Compared to subjects with previously reported ARS-related diseases, individuals with bi-allelic CARS variants are unique in presenting with a brittle-hair-and-nail phenotype, which most likely reflects the high cysteine content in human keratins.", "output": {"entities": {"gene": [{"text": "CARS", "start": 96, "end": 100}], "disease": [{"text": "brittle-hair", "start": 142, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CARS", "start": 96, "end": 100}, "tail": {"text": "brittle-hair", "start": 142, "end": 154}}]}}, "schema": []}
{"input": "In addition, EGF (rs10029654), EGFR (rs12718939), CXCL12 (rs197452), and VCAM1 (rs3917018) genes showed an association with hand dermatitis (P & #8202; & lt; & #8202; 0. 005).", "output": {"entities": {"gene": [{"text": "EGF", "start": 13, "end": 16}], "disease": [{"text": "dermatitis", "start": 129, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGF", "start": 13, "end": 16}, "tail": {"text": "dermatitis", "start": 129, "end": 139}}]}}, "schema": []}
{"input": "To detect cisplatin-induced autophagy, cell morphology (autophagic vacuole) and LC3 localization were examined.", "output": {"entities": {"gene": [{"text": "LC3", "start": 80, "end": 83}], "disease": [{"text": "autophagic vacuole", "start": 56, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In this study, we screened a cohort of 398 patients with frontotemporal dementia, progressive non-fluent aphasia, semantic dementia or mixture of these syndromes for mutations in the C9ORF72 gene.", "output": {"entities": {"gene": [{"text": "C9ORF72 gene", "start": 183, "end": 195}], "disease": [{"text": "aphasia, semantic", "start": 105, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "With recovery from paralysis, levels of cathepsin A remained high in upper cord, and cathepsin C levels fell to about half.", "output": {"entities": {"gene": [{"text": "cathepsin A", "start": 40, "end": 51}], "disease": [{"text": "paralysis", "start": 19, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Mutated BRCA1 leads to disease by causing genome instability via multiple mechanisms including epigenetic changes.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 8, "end": 13}], "disease": [{"text": "genome instability", "start": 42, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin.", "output": {"entities": {"gene": [{"text": "wolframin", "start": 89, "end": 98}], "disease": [{"text": "Wolfram syndrome", "start": 0, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "wolframin", "start": 89, "end": 98}, "tail": {"text": "Wolfram syndrome", "start": 0, "end": 16}}]}}, "schema": []}
{"input": "In this prospective cohort study, we examined 46 subjects with PD without dementia, of whom 35 had normal cognition and 11 met criteria for PD-MCI at study baseline.", "output": {"entities": {"gene": [{"text": "MCI", "start": 143, "end": 146}], "disease": [{"text": "normal cognition", "start": 99, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The human X/autosome translocation, designated KOP, was discovered by Dr. Philip D. Pallister in Montana in 1967 in a young man with apparent Klinefelter syndrome.", "output": {"entities": {"gene": [{"text": "KOP", "start": 47, "end": 50}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of DEC1 were also correlated with age, tumor embolus, depth of invasion of ESCC, lymph metastasis status and pTNMs.", "output": {"entities": {"gene": [{"text": "DEC1", "start": 25, "end": 29}], "disease": [{"text": "tumor embolus", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We reported here that the ratio between non-coding and coding SRA isoforms increased during myogenic differentiation of human satellite cells but not myotonic dystrophy patient satellite cells, in which differentiation capacity is affected.", "output": {"entities": {"gene": [{"text": "SRA", "start": 62, "end": 65}], "disease": [{"text": "myotonic dystrophy", "start": 150, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "While AC V/VI and β-arrestin 2 mRNA levels were decreased in males, mRNA level for GRK2 was increased in females post-AV-shunt.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 83, "end": 87}], "disease": [{"text": "shunt", "start": 121, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We proposed that miR-145-5p, being an important regulator of SOX2, carries a crucial role in PCa tumorigenesis.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 61, "end": 65}], "disease": [{"text": "tumorigenesis", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In summary, we have identified SGNE1 as a novel epigenetically silenced gene in medulloblastomas.", "output": {"entities": {"gene": [{"text": "SGNE1", "start": 31, "end": 36}], "disease": [{"text": "medulloblastomas", "start": 80, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SGNE1", "start": 31, "end": 36}, "tail": {"text": "medulloblastomas", "start": 80, "end": 96}}]}}, "schema": []}
{"input": "Treatment of BXSB-Yaa mice with IL-21R-Fc fusion protein minimally attenuates systemic lupus erythematosus.", "output": {"entities": {"gene": [{"text": "IL-21R", "start": 32, "end": 38}], "disease": [{"text": "systemic lupus erythematosus", "start": 78, "end": 106}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-21R", "start": 32, "end": 38}, "tail": {"text": "systemic lupus erythematosus", "start": 78, "end": 106}}]}}, "schema": []}
{"input": "The ZZ domain of dystrophin in DMD: making sense of missense mutations.", "output": {"entities": {"gene": [{"text": "dystrophin", "start": 17, "end": 27}], "disease": [{"text": "DMD", "start": 31, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dystrophin", "start": 17, "end": 27}, "tail": {"text": "DMD", "start": 31, "end": 34}}]}}, "schema": []}
{"input": "Expression of cyclin E was analyzed by immunohistochemistry in specimens of invasive ductal breast cancer tissue obtained from 189 women during radical mastectomy.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 14, "end": 22}], "disease": [{"text": "invasive ductal breast cancer", "start": 76, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In both patient groups prominent IFN-γ expression was found in and around granulomas, and TNF-α and IL-23 receptor expression was moderate.", "output": {"entities": {"gene": [{"text": "IFN", "start": 33, "end": 36}], "disease": [{"text": "granulomas", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Consistent with a role for Atad5 in suppressing tumorigenesis, we also identified somatic mutations of ATAD5 in 4. 6% of sporadic human endometrial tumors, including two nonsense mutations that resulted in loss of proper ATAD5 function.", "output": {"entities": {"gene": [{"text": "ATAD5", "start": 103, "end": 108}], "disease": [{"text": "tumorigenesis", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "This FISH assay is useful for diagnostic screening of NUP98-positive leukemias.", "output": {"entities": {"gene": [{"text": "FISH", "start": 5, "end": 9}], "disease": [{"text": "leukemias", "start": 69, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The overexpression of miR-7 in the cervical cancer cell lines HeLa and C-33A suppressed cell viability and promoted cell apoptosis, whereas the inhibition of miR-7 had opposite effects.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 22, "end": 27}], "disease": [{"text": "cervical cancer", "start": 35, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Although PC2 was present in all adenomas, there was a differential distribution of PC1 with PRL adenomas expressing lower levels of PC1 compared to other adenoma types by RT-PCR analysis, in situ hybridization and immunostaining.", "output": {"entities": {"gene": [{"text": "PC2", "start": 9, "end": 12}], "disease": [{"text": "adenoma", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In 1, 916 premenopausal women within the Prospect-EPIC cohort, we examined associations of 14 haplotype tagging SNPs in the ALS, IGFBP1, and IGFBP3 genes with IGF-I circulating levels and mammographic density.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 159, "end": 164}], "disease": [{"text": "mammographic density", "start": 188, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.", "output": {"entities": {"gene": [{"text": "NFKBIE", "start": 63, "end": 69}], "disease": [{"text": "melanoma", "start": 33, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NFKBIE", "start": 63, "end": 69}, "tail": {"text": "melanoma", "start": 33, "end": 41}}]}}, "schema": []}
{"input": "A neuropeptide precursor VGF has potent antidepressant effects and has been reportedly associated with bipolar disorder.", "output": {"entities": {"gene": [{"text": "VGF", "start": 25, "end": 28}], "disease": [{"text": "bipolar disorder", "start": 103, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGF", "start": 25, "end": 28}, "tail": {"text": "bipolar disorder", "start": 103, "end": 119}}]}}, "schema": []}
{"input": "These results indicate that deregulation of E2F1 may be a key factor in eugenol-mediated melanoma growth inhibition both in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "E2F1", "start": 44, "end": 48}], "disease": [{"text": "melanoma", "start": 89, "end": 97}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "E2F1", "start": 44, "end": 48}, "tail": {"text": "melanoma", "start": 89, "end": 97}}]}}, "schema": []}
{"input": "We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus.", "output": {"entities": {"gene": [{"text": "ANKS6", "start": 35, "end": 40}], "disease": [{"text": "cardiovascular abnormalities", "start": 98, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANKS6", "start": 35, "end": 40}, "tail": {"text": "cardiovascular abnormalities", "start": 98, "end": 126}}]}}, "schema": []}
{"input": "Point mutations in the androgen receptor gene cause androgen insensitivity syndromes, clinically characterized by masculinization defects in karyotypic males due to endorgan resistance to androgenic steroids.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 23, "end": 40}], "disease": [{"text": "androgen insensitivity syndromes", "start": 52, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 23, "end": 40}, "tail": {"text": "androgen insensitivity syndromes", "start": 52, "end": 84}}]}}, "schema": []}
{"input": "Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.", "output": {"entities": {"gene": [{"text": "MSX1", "start": 37, "end": 41}], "disease": [{"text": "cleft lip and palate", "start": 59, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSX1", "start": 37, "end": 41}, "tail": {"text": "cleft lip and palate", "start": 59, "end": 79}}]}}, "schema": []}
{"input": "However, the serum concentration of PEDF, as measured by enzyme-linked immunosorbent assay, was decreased in patients with cirrhosis or HCC complicated by cirrhosis compared to healthy volunteers and patients with chronic hepatitis.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 36, "end": 40}], "disease": [{"text": "chronic hepatitis", "start": 214, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Using reverse transcriptase-polymerase chain reaction, we examined the expression levels of AR coactivators (ARA55, SRC1, ARA54, TIF2, RAC3) in four prostate cancer cell lines (DU145, PC3, LNCaP, and LN-TR2), nine benign prostatic tissue samples, and 21 prostate cancer tissue specimens.", "output": {"entities": {"gene": [{"text": "TR2", "start": 203, "end": 206}], "disease": [{"text": "prostate cancer", "start": 149, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We propose that familial cortical myoclonus is a novel movement disorder that may be caused by mutation in NOL3.", "output": {"entities": {"gene": [{"text": "NOL3", "start": 107, "end": 111}], "disease": [{"text": "familial cortical myoclonus", "start": 16, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOL3", "start": 107, "end": 111}, "tail": {"text": "familial cortical myoclonus", "start": 16, "end": 43}}]}}, "schema": []}
{"input": "The AMPK chemical inhibitor, 5-iodotubericidin, effectively repressed the hypoxic induction of VEGF mRNA levels and hypoxia inducible factor-1 dependent transcription.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 95, "end": 99}], "disease": [{"text": "hypoxic", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In one atopic patient, we identified an additional 27-bp repeat in the NOS3 gene (NOS3c), which occurred in heterozygous combination with the NOS3b allele (NOS3b/c genotype).", "output": {"entities": {"gene": [{"text": "NOS3 gene", "start": 71, "end": 80}], "disease": [{"text": "atopic", "start": 7, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Expression of growth arrest and DNA damage-inducible protein, GADD34 and proliferating cell nuclear antigen (PCNA) have been investigated in the core and peri-infarct zone at 2 and 24 h after middle cerebral artery occlusion (MCAO).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 109, "end": 113}], "disease": [{"text": "infarct", "start": 159, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "AAT may also be a' switch' for copper metabolism and low' free' copper would be theorized to provide protection for lipid oxidation and favorably affect beta-amyloid and other aggregation, but possibly alter early' critical' period of CNS development.", "output": {"entities": {"gene": [{"text": "AAT", "start": 0, "end": 3}], "disease": [{"text": "amyloid", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "In a subset of 18 patients, the bcl-2 [t (14; 18)] translocation was positive in eight patients; seven of these patients had complete remissions and converted to polymerase chain reaction (PCR) negativity by completion of therapy.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 32, "end": 37}], "disease": [{"text": "translocation", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Lymphoid abnormalities associated with those diseases in this strain are thymic atrophy and abnormal proliferation of CD3 + CD4-CD8-' double-negative' T cells, resulting in massive generalized lymph node enlargement.", "output": {"entities": {"gene": [{"text": "CD4", "start": 124, "end": 127}], "disease": [{"text": "generalized lymph node enlargement", "start": 181, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Hodgkin' s lymphoma (HL) is a lymphoid neoplasm characterized by Hodgkin' s and Reed-Sternberg (H/RS) cells, which is regulated by CD99.", "output": {"entities": {"gene": [{"text": "CD99", "start": 131, "end": 135}], "disease": [{"text": "lymphoid neoplasm", "start": 30, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Markedly higher expression of mRNA, protein, and activity of MnSOD in skin fibroblasts from patients with Farber disease, a human disorder with pathognomonic accumulation of ceramide due to a deficiency of ceramidase, than in normal skin fibroblasts indicate that ceramide may act as a physiological inducer of MnSOD gene expression.", "output": {"entities": {"gene": [{"text": "MnSOD", "start": 61, "end": 66}], "disease": [{"text": "Farber disease", "start": 106, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MnSOD", "start": 61, "end": 66}, "tail": {"text": "Farber disease", "start": 106, "end": 120}}]}}, "schema": []}
{"input": "Both TNF-alpha receptors were related to waist-to-hip ratio (WHR), fat-free mass (FFM), plasma total cholesterol, HDL cholesterol, LDL cholesterol, and nonesterified fatty acids (NEFAs).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 5, "end": 14}], "disease": [{"text": "waist-to-hip ratio", "start": 41, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our study demonstrated overexpression of NS in most HCC tissues compared with their matched surrounding tissues, and silencing NS promoted UV-and serum starvation-induced apoptosis of MHCC97H and Bel7402 cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 67, "end": 70}], "disease": [{"text": "starvation", "start": 167, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Availability of the human CPT I cDNA should open the way to an understanding of the genetic basis of inherited CPT I deficiency syndromes, how the liver CPT I gene is regulated, and which tissues other than liver express this particular variant of the enzyme.", "output": {"entities": {"gene": [{"text": "CPT I", "start": 26, "end": 31}], "disease": [{"text": "CPT I deficiency", "start": 111, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CPT I", "start": 26, "end": 31}, "tail": {"text": "CPT I deficiency", "start": 111, "end": 127}}]}}, "schema": []}
{"input": "Ten genes of importance for HNK-1 biosynthesis (B3GAT1, B3GAT2, and CHST10) or for the formation of perineuronal nets (TNR, BCAN, NCAN, HAPLN1, HAPLN2, HAPLN3, and HAPLN4) were investigated for potential involvement in schizophrenia (SCZ) susceptibility, by genotyping 104 tagSNPs in the Scandinavian Collaboration on Psychiatric Etiology sample (849 cases; 1602 control subjects).", "output": {"entities": {"gene": [{"text": "HAPLN1", "start": 136, "end": 142}], "disease": [{"text": "schizophrenia", "start": 219, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Our investigation shows active smoking is associated with increased risk of TP53, BRAF and MSI + in rectal tumors and is suggestive of increased risk of CIMP + tumors.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 82, "end": 86}], "disease": [{"text": "smoking", "start": 31, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "We selected three human cancer cell lines [human melanoma (SEKI), human melanoma (G361), and human neuroepithelioma (NAGAI)] that have an ability to develop cancer cachexia syndrome with and without accompanying anorexia and examined the hypothalamic levels of mRNAs for neuropeptide Y (NPY), melanin-concentrating hormone, and orexin.", "output": {"entities": {"gene": [{"text": "melanin-concentrating hormone", "start": 293, "end": 322}], "disease": [{"text": "neuroepithelioma", "start": 99, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In melanoma cells in which an elevated level of c-Yes is observed, a protein of 39 kD is heavily phosphorylated on tyrosine.", "output": {"entities": {"gene": [{"text": "c-Yes", "start": 48, "end": 53}], "disease": [{"text": "melanoma", "start": 3, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "There were no significant gender effects, and relative reductions in FADS1, HELO1, and SCD expression were greater in patients that did not commit suicide compared with patients that did commit suicide.", "output": {"entities": {"gene": [{"text": "HELO1", "start": 76, "end": 81}], "disease": [{"text": "suicide", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Oxidized protein level, translocation of Bcl-2, Bax and cytochrome c between cytosol and mitochondria, and expression of peroxisome proliferator-activated receptors γ (PPARγ) and UCP2 were examined in the hippocampal CA3 subfield following KA-induced status epilepticus.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 41, "end": 46}], "disease": [{"text": "translocation", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Transgenic mice harboring two alleles of the mutated human COL2A1 were examined for morphological abnormalities and for alterations of their skeletal development.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 59, "end": 65}], "disease": [{"text": "abnormalities", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Pathologically, hHcys-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by caspase 1 inhibition.", "output": {"entities": {"gene": [{"text": "caspase 1", "start": 230, "end": 239}], "disease": [{"text": "hHcy", "start": 16, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caspase 1", "start": 230, "end": 239}, "tail": {"text": "hHcy", "start": 16, "end": 20}}]}}, "schema": []}
{"input": "In Tunisian women with idiopathic RPL, factor V Leiden polymorphism and homozygous FV HR2 haplotype are not a risk factor for very early pregnancy loss, before 8 weeks of gestation, but are thereafter associated with significant clinical risks, which gradually increase from the 8th week onwards.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 39, "end": 54}], "disease": [{"text": "early pregnancy loss", "start": 131, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study is to investigate the effects of the peptides ADNF-9 and NAP on neurodegeneration and cerebral nitric oxide (NO) production in a neonatal rat model of hypoxic-ischemic brain injury.", "output": {"entities": {"gene": [{"text": "NAP", "start": 79, "end": 82}], "disease": [{"text": "neurodegeneration", "start": 86, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Neuregulin-1 (NRG1) is a potential therapeutic agent for the treatment of doxorubicin (Dox)-induced heart failure.", "output": {"entities": {"gene": [{"text": "Neuregulin-1", "start": 0, "end": 12}], "disease": [{"text": "heart failure", "start": 100, "end": 113}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Neuregulin-1", "start": 0, "end": 12}, "tail": {"text": "heart failure", "start": 100, "end": 113}}]}}, "schema": []}
{"input": "As a means of investigating the risk of smoking associated with genetic polymorphisms in the dopamine transporter (SLC6A3) and the D2 dopamine receptor (DRD2) genes, a case-control study of 289 smokers and 233 nonsmoking controls and a case series analysis of smokers were conducted.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 153, "end": 157}], "disease": [{"text": "smoking", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Ectopic expression of satellite DNA can phenocopy BRCA1 loss in centrosome amplification, cell-cycle checkpoint defects, DNA damage and genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 50, "end": 55}], "disease": [{"text": "genomic instability", "start": 136, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the methylation status of BCL2L10 and its expression in 21 gastric cancer tissues and corresponding non-neoplastic mucosae along with the methylation status of p16, RUNX3, and hMLH1 genes by using methylation specific PCR.", "output": {"entities": {"gene": [{"text": "BCL2L10", "start": 57, "end": 64}], "disease": [{"text": "non-neoplastic", "start": 131, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Further, we show that CD40L or CD40 deficiency reduces the mean ratio of dystrophic neurite area to congophilic plaque area and the level of expression of cdk5 and p35/p25 in mice.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 22, "end": 27}], "disease": [{"text": "plaque", "start": 112, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "This is consistent with BAV/AscAA-associated findings in patients and in animal models deficient for ROBO4.", "output": {"entities": {"gene": [{"text": "ROBO4", "start": 101, "end": 106}], "disease": [{"text": "BAV", "start": 24, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ROBO4", "start": 101, "end": 106}, "tail": {"text": "BAV", "start": 24, "end": 27}}]}}, "schema": []}
{"input": "Stable expression of hHSS1 in glioma-derived A172 and U87 cell lines greatly reduced their proliferation rates compared to mock-transfected cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 54, "end": 57}], "disease": [{"text": "glioma", "start": 30, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "This functional alteration may affect binding of factor H to polyanionic patterns on host surfaces, potentially influencing complement activation, immune complex clearance, and inflammation in the macula of AMD patients.", "output": {"entities": {"gene": [{"text": "factor H", "start": 49, "end": 57}], "disease": [{"text": "inflammation", "start": 177, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda.", "output": {"entities": {"gene": [{"text": "Ankrd11", "start": 31, "end": 38}], "disease": [{"text": "osteopenia", "start": 58, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ankrd11", "start": 31, "end": 38}, "tail": {"text": "osteopenia", "start": 58, "end": 68}}]}}, "schema": []}
{"input": "Chromosomal haplotyping with two proximal and two distal polymorphic markers flanking ABCC6 demonstrated that most chromosomes that carry these relatively frequent PXE mutations have related haplotypes specific for these mutations, which suggests that these chromosomes originate from single founder mutations.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 86, "end": 91}], "disease": [{"text": "PXE", "start": 164, "end": 167}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 86, "end": 91}, "tail": {"text": "PXE", "start": 164, "end": 167}}]}}, "schema": []}
{"input": "Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil.", "output": {"entities": {"gene": [{"text": "TP53", "start": 68, "end": 72}], "disease": [{"text": "choroid plexus carcinoma", "start": 23, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP53", "start": 68, "end": 72}, "tail": {"text": "choroid plexus carcinoma", "start": 23, "end": 47}}]}}, "schema": []}
{"input": "Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children.", "output": {"entities": {"gene": [{"text": "PADI3", "start": 89, "end": 94}], "disease": [{"text": "UHS", "start": 38, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PADI3", "start": 89, "end": 94}, "tail": {"text": "UHS", "start": 38, "end": 41}}]}}, "schema": []}
{"input": "In follicular lymphomas with the t (14; 18) translocation, there is increased expression of the bcl-2 gene, which is dependent upon regulatory elements within the bcl-2 5' flanking region and the immunoglobulin heavy-chain gene enhancers.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 96, "end": 101}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings indicate that hypoxia induces NMB-R expression through a novel mechanism to regulate HIF-1 & #945; expression in breast cancer cells.", "output": {"entities": {"gene": [{"text": "NMB-R", "start": 59, "end": 64}], "disease": [{"text": "breast cancer", "start": 142, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NMB-R", "start": 59, "end": 64}, "tail": {"text": "breast cancer", "start": 142, "end": 155}}]}}, "schema": []}
{"input": "This variability in bleeding has been attributed to a number of factors including the presence of a novel form of FXI associated with platelets, which ameliorates the bleeding in some cases of FXI deficiency.", "output": {"entities": {"gene": [{"text": "FXI", "start": 114, "end": 117}], "disease": [{"text": "bleeding", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "We also tested in vitro the effects of five LD missense mutations on laforin' s affinity to Lafora body.", "output": {"entities": {"gene": [{"text": "laforin", "start": 69, "end": 76}], "disease": [{"text": "LD", "start": 44, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "laforin", "start": 69, "end": 76}, "tail": {"text": "LD", "start": 44, "end": 46}}]}}, "schema": []}
{"input": "Therefore, the relative accuracy of each method for disease monitoring in Ph1-positive leukemia was: 83% (24 of 29) for karyotyping, 82% (27 of 33) for Southern blotting, 92% (34 of 37) for FISH, and 92% (34 of 37) for multiplex RT-PCR.", "output": {"entities": {"gene": [{"text": "FISH", "start": 190, "end": 194}], "disease": [{"text": "leukemia", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of TweakR was observed in infiltrating tumors compared to normal adjacent breast tissues, and strong staining of TweakR was observed in all subtypes of invasive ductal breast cancer.", "output": {"entities": {"gene": [{"text": "TweakR", "start": 18, "end": 24}], "disease": [{"text": "invasive ductal breast cancer", "start": 167, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Frontotemporal dementia with parkinsonism, chromosome 17 type (FTDP-17), a recently defined disease entity, is clinically characterized by personality changes sometimes associated with psychosis, hyperorality, and diminished speech output, disturbed executive function and nonfluent aphasia, bradykinesia, and rigidity.", "output": {"entities": {"gene": [{"text": "FTDP-17", "start": 63, "end": 70}], "disease": [{"text": "Frontotemporal dementia with parkinsonism", "start": 0, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FTDP-17", "start": 63, "end": 70}, "tail": {"text": "Frontotemporal dementia with parkinsonism", "start": 0, "end": 41}}]}}, "schema": []}
{"input": "Taken together, mutations in CTLA4 resulting in CTLA-4 haploinsufficiency or impaired ligand binding result in disrupted T and B cell homeostasis and a complex immune dysregulation syndrome.", "output": {"entities": {"gene": [{"text": "CTLA4", "start": 29, "end": 34}], "disease": [{"text": "immune dysregulation", "start": 160, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTLA4", "start": 29, "end": 34}, "tail": {"text": "immune dysregulation", "start": 160, "end": 180}}]}}, "schema": []}
{"input": "CCN2 (connective tissue growth factor/CTGF) is a profibrotic factor that is secreted by endothelial cells, involved in atherogenesis, promoting fibroblast proliferation and matrix production.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 38, "end": 42}], "disease": [{"text": "atherogenesis", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that increased mGluR5 expression on primary afferent neurons contributes to increased glutamatergic input to spinal dorsal horn neurons and nociceptive transmission in diabetic neuropathic pain.", "output": {"entities": {"gene": [{"text": "mGluR5", "start": 38, "end": 44}], "disease": [{"text": "neuropathic pain", "start": 200, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR5", "start": 38, "end": 44}, "tail": {"text": "neuropathic pain", "start": 200, "end": 216}}]}}, "schema": []}
{"input": "Although the role of HO1 in tumorigenesis remains controversial, recent evidence suggests NGF and HO1 as tumor-progressing factors.", "output": {"entities": {"gene": [{"text": "NGF", "start": 90, "end": 93}], "disease": [{"text": "tumorigenesis", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.", "output": {"entities": {"gene": [{"text": "HINT1", "start": 52, "end": 57}], "disease": [{"text": "autosomal recessive axonal neuropathy with neuromyotonia", "start": 101, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HINT1", "start": 52, "end": 57}, "tail": {"text": "autosomal recessive axonal neuropathy with neuromyotonia", "start": 101, "end": 157}}]}}, "schema": []}
{"input": "The development of disturbed substrate utilization of FASN transgenic cardiomyocytes and signs of heart failure were retarded by the transgenic expression of GRKInh, a peptide inhibitor of GRK2.", "output": {"entities": {"gene": [{"text": "FASN", "start": 54, "end": 58}], "disease": [{"text": "heart failure", "start": 98, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FASN", "start": 54, "end": 58}, "tail": {"text": "heart failure", "start": 98, "end": 111}}]}}, "schema": []}
{"input": "The results presented in this report significantly advance our understanding of the regulatory mechanism that links copper-translocation activity with copper-induced intracellular trafficking of ATP7B, which is central to hepatic and hence systemic copper homoeostasis.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 195, "end": 200}], "disease": [{"text": "translocation", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "These are the first cases of primary hyperoxaluria type 1 to be diagnosed by clinical manifestations and AGXT gene mutations in mainland China.", "output": {"entities": {"gene": [{"text": "AGXT", "start": 105, "end": 109}], "disease": [{"text": "primary hyperoxaluria type 1", "start": 29, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGXT", "start": 105, "end": 109}, "tail": {"text": "primary hyperoxaluria type 1", "start": 29, "end": 57}}]}}, "schema": []}
{"input": "The results revealed that PMQ could downregulate the expression of the NADPH oxidase gene and reduce angiotensin II-induced cardiac hypertrophy and apoptosis in rats.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 101, "end": 115}], "disease": [{"text": "cardiac hypertrophy", "start": 124, "end": 143}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 101, "end": 115}, "tail": {"text": "cardiac hypertrophy", "start": 124, "end": 143}}]}}, "schema": []}
{"input": "The acinar regulator Gata6 suppresses KrasG12V-driven pancreatic tumorigenesis in mice.", "output": {"entities": {"gene": [{"text": "Gata6", "start": 21, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the FUS gene were identified in patients with familial ALS (FALS) and patients with sporadic ALS (SALS) from a variety of genetic backgrounds.", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 17, "end": 25}], "disease": [{"text": "sporadic", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We conclude that loss of PTEN and subsequent activation of AKT impair CHK1 through phosphorylation, ubiquitination, and reduced nuclear localization to promote genomic instability in tumor cells.", "output": {"entities": {"gene": [{"text": "AKT", "start": 59, "end": 62}], "disease": [{"text": "genomic instability", "start": 160, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "The high frequency of aberrant persistence of IGF2R imprinting in the kidneys of Wilms' tumor patients, which may be an embryonic feature, suggests that it is a predisposing factor in tumorigenesis.", "output": {"entities": {"gene": [{"text": "IGF2R", "start": 46, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 184, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "mRNA and protein levels of complex I subunits NDUFV1, NDUFV2 and NADUFS1, were assessed in striatal and lateral cerebellar hemisphere postmortem specimens and analyzed together with our previous data from prefrontal and parieto-occipital cortices specimens of patients with schizophrenia, bipolar disorder, major depression and healthy subjects.", "output": {"entities": {"gene": [{"text": "NDUFV1", "start": 46, "end": 52}], "disease": [{"text": "major depression", "start": 307, "end": 323}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDUFV1", "start": 46, "end": 52}, "tail": {"text": "major depression", "start": 307, "end": 323}}]}}, "schema": []}
{"input": "Increased tropoelastin and procollagen expression in the lung of nitrofen-induced diaphragmatic hernia in rats.", "output": {"entities": {"gene": [{"text": "tropoelastin", "start": 10, "end": 22}], "disease": [{"text": "diaphragmatic hernia", "start": 82, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tropoelastin", "start": 10, "end": 22}, "tail": {"text": "diaphragmatic hernia", "start": 82, "end": 102}}]}}, "schema": []}
{"input": "The present study suggests that, at least in our panel of TGCT cell lines, hypersensitivity for cisplatin-induced apoptosis might not be necessarily correlated with the presence of wild-type p53 and is probably not associated with Bcl-2 and Bax expression.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 231, "end": 236}], "disease": [{"text": "hypersensitivity", "start": 75, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that EGFR mutations are common in female, never-smoking lung cancer cases from the United States, and EGFR mutations are unlikely due to exposure to radon or passive smoking.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 25, "end": 29}], "disease": [{"text": "smoking", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, CG8316 and CG15599-genes identified in a retinal degeneration screen to modify mutant YARS, also modified the mutant GARS phenotypes.", "output": {"entities": {"gene": [{"text": "GARS", "start": 130, "end": 134}], "disease": [{"text": "retinal degeneration", "start": 54, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The authors characterized the pharmacokinetics of lamivudine (n = 27), zidovudine (n = 16), and stavudine (n = 11) in human immunodeficiency virus (HIV)/tuberculosis (TB)-coinfected Ghanaians and evaluated associations between zidovudine metabolism and UDP-glucuronosyltransferase (UGT) 2B7 polymorphisms.", "output": {"entities": {"gene": [{"text": "UGT", "start": 282, "end": 285}], "disease": [{"text": "tuberculosis", "start": 153, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the ATP7B gene were analysed in a total of 64 individuals from 40 different WD families by PCR amplification, single-strand conformation polymorphism (SSCP) analysis and sequencing.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 17, "end": 22}], "disease": [{"text": "WD", "start": 89, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 17, "end": 22}, "tail": {"text": "WD", "start": 89, "end": 91}}]}}, "schema": []}
{"input": "The authors used real-time methylation-specific polymerase chain reaction analysis to determine methylation status of the RUNX3 promoter in a spectrum of gastric lesions, including 220 samples of chronic atrophic gastritis, 196 samples of intestinal metaplasia, 134 samples of gastric adenoma, 102 samples of dysplasia, and 202 samples of GC with paired noncancerous mucosa tissues and corresponding blood specimens.", "output": {"entities": {"gene": [{"text": "RUNX3", "start": 122, "end": 127}], "disease": [{"text": "gastric adenoma", "start": 277, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "The steady-state mRNA expression levels for epidermal growth factor receptor (EGFR; growth), basic fibroblast growth factor (bFGF) and interleukin (IL)-8 (angiogenesis), 72-kd and 92-kd type IV collagenase (invasion), E-cadherin (adhesion), and multidrug resistance (mdr-1; drug resistance) were measured by Northern blot and colorimetric in situ hybridization techniques in human PC-3M cells and selected cell variants with different metastatic potentials.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 78, "end": 82}], "disease": [{"text": "adhesion", "start": 230, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Therefore, in glioblastoma cells, transcriptional regulation of the VEGF promoter by EGFR appears to involve Ras/PI (3) kinase and to be distinct from signals induced by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 68, "end": 72}], "disease": [{"text": "hypoxia", "start": 170, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "We show that combined Rae1 and Nup98 haploinsufficiency in mice results in premature separation of sister chromatids, severe aneuploidy and untimely degradation of securin.", "output": {"entities": {"gene": [{"text": "securin", "start": 164, "end": 171}], "disease": [{"text": "aneuploidy", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "We conclude that, in obesity, insulin resistance in adipocytes is due to depletion of GLUT 4 glucose transporters, and that the cellular content of GLUT 4 is determined by the level of encoding mRNA over a wide range of body weight.", "output": {"entities": {"gene": [{"text": "GLUT", "start": 86, "end": 90}], "disease": [{"text": "insulin resistance", "start": 30, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "In these tumors BOB. 1/OBF. 1 is typically coexpressed with high levels of Bcl6.", "output": {"entities": {"gene": [{"text": "OBF", "start": 23, "end": 26}], "disease": [{"text": "tumors", "start": 9, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "The frequency of the 5HTTLPR and of HTR2A T102C genotypes or alleles was similar between three groups of pregnant women and was not associated with low platelet 5-HT concentrations observed in pregnant women with PIH or pre-eclampsia.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 36, "end": 41}], "disease": [{"text": "eclampsia", "start": 224, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Colorectal cancer (CRC) cell lines displaying microsatellite instability (MSI) are resistant to 5-fluorouracil in vitro, which can be overcome by restoring DNA mismatch repair (MMR) competence.", "output": {"entities": {"gene": [{"text": "MMR", "start": 177, "end": 180}], "disease": [{"text": "microsatellite instability", "start": 46, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We conclude that that 45% of a subgroup of children with autism suffers from low NK cell activity, and that low intracellular levels of glutathione, IL-2 and IL-15 may be responsible.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 149, "end": 153}], "disease": [{"text": "autism", "start": 57, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-2", "start": 149, "end": 153}, "tail": {"text": "autism", "start": 57, "end": 63}}]}}, "schema": []}
{"input": "Using polymerase chain reaction, the authors examined both Hodgkin' s disease (n = 60) and reactive lymph nodes (n = 34) for the presence of bcl-2/JH breakpoint fragments, which are indicative of the t (14; 18) chromosomal translocation in the major breakpoint region of the bcl-2 gene.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 275, "end": 285}], "disease": [{"text": "chromosomal translocation", "start": 211, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "The molecular alteration of TP53, p16INK4A, and p15INK4B genes may be useful as a prognostic marker in scrotal cancer.", "output": {"entities": {"gene": [{"text": "TP53", "start": 28, "end": 32}], "disease": [{"text": "scrotal cancer", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Moreover, protein and mRNA expressions of MLN64 that regulating cholesterol transport and activating protein 2 & #947; (AP2 & #947;/Tfap2c) that controlling P450scc/CYP11a gene expression in placenta were both decreased following maternal cocaine use in pregnancy.", "output": {"entities": {"gene": [{"text": "MLN64", "start": 42, "end": 47}], "disease": [{"text": "cocaine use", "start": 239, "end": 250}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLN64", "start": 42, "end": 47}, "tail": {"text": "cocaine use", "start": 239, "end": 250}}]}}, "schema": []}
{"input": "MCT8 knockout mice lack neurological damage, but mimic TH abnormalities of MCT8 patients.", "output": {"entities": {"gene": [{"text": "MCT8", "start": 0, "end": 4}], "disease": [{"text": "abnormalities", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The disease is caused by mutations in the ABCC6 gene and characterized by ectopic calcification and extracellular matrix (ECM) alterations.", "output": {"entities": {"gene": [{"text": "ABCC6 gene", "start": 42, "end": 52}], "disease": [{"text": "ectopic calcification", "start": 74, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously, with notable similarities to the phenotype of the Gnat1 knockout mouse.", "output": {"entities": {"gene": [{"text": "Gnat1", "start": 257, "end": 262}], "disease": [{"text": "mild", "start": 85, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Tumors with PLK1 overexpression were associated more frequently with CIN (p < 0. 0001), DNA aneuploidy (p = 0. 0007) and centrosome amplification (p = 0. 0013) than those without.", "output": {"entities": {"gene": [{"text": "PLK1", "start": 12, "end": 16}], "disease": [{"text": "aneuploidy", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Whether the IL-17A expression was originated from Th17 and could be stimulated by hypoxia remained unknown.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 12, "end": 18}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.", "output": {"entities": {"gene": [{"text": "acid beta-galactosidase", "start": 72, "end": 95}], "disease": [{"text": "corneal clouding", "start": 30, "end": 46}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "acid beta-galactosidase", "start": 72, "end": 95}, "tail": {"text": "corneal clouding", "start": 30, "end": 46}}]}}, "schema": []}
{"input": "The upregulated genes were NF-kappaB genes (NFKB1, RELA, IKBKG, NFKBIB, NFKB2, REL, CHUK), apoptosis genes (MCL1L, TNFAIP3/A20, GADD45B, FASLG, MCL1S, IER3L, TNFRSF10B/TRAILR2), immune response genes (CD40, CD48, TNFSF11/RANKL, TNFRSF11A/RANK, CCL2/MCP-1, CD40LG, IL15, GBP1), proliferation genes (CCND2, CCND3, CSF1R, CSF1, SOD2), tumor-promoting genes (CXCL12, SELE, TNC, VCAM1, ICAM1, PLAU/UPA) or angiogenesis genes (PTGS2/COX2, CXCL1/GRO1).", "output": {"entities": {"gene": [{"text": "NFKBIB", "start": 64, "end": 70}], "disease": [{"text": "tumor", "start": 332, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "Direct intradermal administration of IL-23 in mouse skin, but not IL-12, initiates a tumor necrosis factor-dependent, but IL-17A-independent, cascade of events resulting in erythema, mixed dermal infiltrate, and epidermal hyperplasia associated with parakeratosis.", "output": {"entities": {"gene": [{"text": "IL-23", "start": 37, "end": 42}], "disease": [{"text": "erythema", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "STAB1 is located in close proximity to PBMR1 and the NEK4-ITIH1-ITIH3-ITIH4 region, which are the top findings from GWAS meta-analyses of mood disorder, and a combined BD and schizophrenia data set.", "output": {"entities": {"gene": [{"text": "NEK4", "start": 53, "end": 57}], "disease": [{"text": "BD", "start": 168, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NEK4", "start": 53, "end": 57}, "tail": {"text": "BD", "start": 168, "end": 170}}]}}, "schema": []}
{"input": "Translocation t (15; 19) (q13; p13. 1) defines a lethal midline carcinoma arising adjacent to respiratory tract in young people.", "output": {"entities": {"gene": [{"text": "p13", "start": 31, "end": 34}], "disease": [{"text": "carcinoma", "start": 64, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Our previous study demonstrated that STAT3 (signal transducer and activator of transcription 3) up-regulates HIF-1alpha (hypoxia inducible factor-1alpha) protein stability and enhances HIF-1-mediated VEGF expression in hypoxic solid tumor cells, thus suggesting that the inhibition of STAT3 signaling may have clinical applications.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 200, "end": 204}], "disease": [{"text": "hypoxic", "start": 219, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Inclusion-body myopathy, Paget' s disease of bone and frontotemporal dementia is an adult-onset autosomal dominant illness (IBMPFD) caused by mutations in the valosin-containing protein (VCP) on chromosome 9p21. 1-p12.", "output": {"entities": {"gene": [{"text": "p12", "start": 214, "end": 217}], "disease": [{"text": "frontotemporal dementia", "start": 54, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The distribution of DR3 and DR4 risk alleles was not associated with cardiovascular autonomic neuropathy both in patients with normal albumin excretion rate and microalbuminuria (1. 6 vs 2. 1; p = 0. 21).", "output": {"entities": {"gene": [{"text": "DR3", "start": 20, "end": 23}], "disease": [{"text": "microalbuminuria", "start": 161, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Similarly, transcripts associated with cholesterol and lipoprotein metabolism showed a differential expression, with APOE and ABCA being decreased and VLDLR being increased in obese versus lean subjects.", "output": {"entities": {"gene": [{"text": "VLDLR", "start": 151, "end": 156}], "disease": [{"text": "obese", "start": 176, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VLDLR", "start": 151, "end": 156}, "tail": {"text": "obese", "start": 176, "end": 181}}]}}, "schema": []}
{"input": "Importantly, overexpression of PSAT1 also significantly ameliorated insulin resistance in diabetic mice.", "output": {"entities": {"gene": [{"text": "PSAT1", "start": 31, "end": 36}], "disease": [{"text": "insulin resistance", "start": 68, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Disruption of the ODC or AdoMetDC [AdoMet (S-adenosylmethionine) decarboxylase] gene is not compatible with mouse embryogenesis, whereas mice with a disrupted SSAT gene are viable and show no harmful phenotypic changes, except insulin resistance at a late age.", "output": {"entities": {"gene": [{"text": "ODC", "start": 18, "end": 21}], "disease": [{"text": "insulin resistance", "start": 227, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Gene expression levels of telomerase reverse transcriptase were significantly lower in white matter oligodendrocytes from MDD as compared to control donors.", "output": {"entities": {"gene": [{"text": "telomerase reverse transcriptase", "start": 26, "end": 58}], "disease": [{"text": "MDD", "start": 122, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "telomerase reverse transcriptase", "start": 26, "end": 58}, "tail": {"text": "MDD", "start": 122, "end": 125}}]}}, "schema": []}
{"input": "As a result, two novel heterozygous GATA5 mutations, p. Y16D and p. T252P, were identified in two families with autosomal dominant inheritance of BAV, respectively.", "output": {"entities": {"gene": [{"text": "GATA5", "start": 36, "end": 41}], "disease": [{"text": "BAV", "start": 146, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATA5", "start": 36, "end": 41}, "tail": {"text": "BAV", "start": 146, "end": 149}}]}}, "schema": []}
{"input": "This study identifies an important role for cross talk between Notch4 and Nodal in metastatic melanoma, placing Notch4 upstream of Nodal, and offers a potential molecular target for melanoma therapy.", "output": {"entities": {"gene": [{"text": "Notch4", "start": 63, "end": 69}], "disease": [{"text": "metastatic melanoma", "start": 83, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "These tumors were all characterized by pale-staining fibrillary foci of mature neuroglia, which were intensely immunoreactive for glial fibrillary acidic protein in each case.", "output": {"entities": {"gene": [{"text": "glial fibrillary acidic protein", "start": 130, "end": 161}], "disease": [{"text": "pale", "start": 39, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The functional effects of PTPN3 variations were determined by RNA interference and transgenic expression in cholangiocarcinoma cell lines (RBE, HCCC-9810, and Huh28).", "output": {"entities": {"gene": [{"text": "PTPN3", "start": 26, "end": 31}], "disease": [{"text": "cholangiocarcinoma", "start": 108, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTPN3", "start": 26, "end": 31}, "tail": {"text": "cholangiocarcinoma", "start": 108, "end": 126}}]}}, "schema": []}
{"input": "We provide evidence that a deletion in the lumenal loop of RYR1 alters channel function and causes CCD.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 59, "end": 63}], "disease": [{"text": "CCD", "start": 99, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 59, "end": 63}, "tail": {"text": "CCD", "start": 99, "end": 102}}]}}, "schema": []}
{"input": "Low helicase-like transcription factor expression correlated positively with French-American-British M4/M5 subtypes (P < 0. 0001) and complex cytogenetic abnormalities (P = 0. 02 for ≥ 3 abnormalities; P = 0. 004 for ≥ 5 abnormalities) but negatively with CEBPA double mutations (P = 0. 012).", "output": {"entities": {"gene": [{"text": "helicase-like transcription factor", "start": 4, "end": 38}], "disease": [{"text": "abnormalities", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "We determined the molecular basis of CBS deficiency in 36 Australian patients from 28 unrelated families, using direct sequencing of the entire coding region of the CBS gene.", "output": {"entities": {"gene": [{"text": "CBS", "start": 37, "end": 40}], "disease": [{"text": "CBS deficiency", "start": 37, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CBS", "start": 37, "end": 40}, "tail": {"text": "CBS deficiency", "start": 37, "end": 51}}]}}, "schema": []}
{"input": "Instead, SIM + MET treatment led to Ripk1-and Ripk3-dependent necrosis by 48-96 h, determined by propidium iodide-Annexin V flow cytometry, increase in Ripk1 and Ripk3 protein expression, necrosome formation, HMGB-1 extracellular release, and necrotic induction and viability rescue with necrostatin-1 and Ripk3-targeting siRNA.", "output": {"entities": {"gene": [{"text": "Annexin V", "start": 114, "end": 123}], "disease": [{"text": "necrotic", "start": 243, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "TR2 may function as a negative modulator to suppress AR function in prostate cancer.", "output": {"entities": {"gene": [{"text": "TR2", "start": 0, "end": 3}], "disease": [{"text": "prostate cancer", "start": 68, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Upon intratracheal injection of lipopolysaccharide, FXR-/-mice showed higher lung endothelial permeability, released more bronchoalveolar lavage cells to the alveoli, and developed acute pneumonia.", "output": {"entities": {"gene": [{"text": "FXR", "start": 52, "end": 55}], "disease": [{"text": "acute pneumonia", "start": 181, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "The t (12; 21) (p13; q22) translocation, resulting in the fusion of the ETV6 and AML1 genes, occurs in 20-25% of paediatric B-lineage acute lymphoblastic leukaemias (ALL).", "output": {"entities": {"gene": [{"text": "AML1", "start": 81, "end": 85}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated evidence for linkage and association between the two AR repeats and prostate cancer by using the following comprehensive approaches: (1) a combination of linkage and association studies, (2) a test for linkage by parametric analysis and the male-limited X-linked transmission/disequilibrium test (XLRC-TDT), (3) a test for association by using both population-based and family-based tests, and (4) a study of both hereditary and sporadic cases.", "output": {"entities": {"gene": [{"text": "TDT", "start": 330, "end": 333}], "disease": [{"text": "sporadic", "start": 457, "end": 465}]}, "relations": {}}, "schema": []}
{"input": "Relative to WT mice, influenza virus-infected HET mice showed significantly delayed mortality, which was accompanied by attenuated hypoxemia, cardiopulmonary dysfunction, and pulmonary edema.", "output": {"entities": {"gene": [{"text": "HET", "start": 46, "end": 49}], "disease": [{"text": "hypoxemia", "start": 131, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Injections of human TNF-α (hTNF), an agonist of mouse TNFR1, stimulated bone resorption lacunae on the calvariae in WT mice, but mouse TNF-α (mTNF), an agonist of both mouse TNFR1 and TNFR2, could not.", "output": {"entities": {"gene": [{"text": "TNFR1", "start": 54, "end": 59}], "disease": [{"text": "bone resorption", "start": 72, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In vivo infection of wild-type and mif-deficient (Mif (-/-)) mice demonstrated a role of MIF in dengue pathogenesis.", "output": {"entities": {"gene": [{"text": "MIF", "start": 89, "end": 92}], "disease": [{"text": "dengue", "start": 96, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The chemical inhibition of FASN activity could have a potential benefit in association with the current chemotherapy for melanoma.", "output": {"entities": {"gene": [{"text": "FASN", "start": 27, "end": 31}], "disease": [{"text": "melanoma", "start": 121, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FASN", "start": 27, "end": 31}, "tail": {"text": "melanoma", "start": 121, "end": 129}}]}}, "schema": []}
{"input": "He was diagnosed with spastic paraplegia type 4, autosomal dominant (SPG4, MIM #182601).", "output": {"entities": {"gene": [{"text": "MIM", "start": 75, "end": 78}], "disease": [{"text": "spastic paraplegia type 4", "start": 22, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Our findings provide the novel insight that HIF-1α-dependent VEGF overexpression under hypoxic conditions shows to some extent associations with the metastatic tendency of ACC cells and may function as a potential target for ACC therapy.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 61, "end": 65}], "disease": [{"text": "hypoxic", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Central role of Muc5ac expression in mucous metaplasia and its regulation by conserved 5' elements.", "output": {"entities": {"gene": [{"text": "Muc5ac", "start": 16, "end": 22}], "disease": [{"text": "metaplasia", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Chronic myelogenous leukemia (CML) is a clonal myeloproliferative disorder that is characterized by the presence of a reciprocal translocation between chromosomes 9 and 22 and results in the formation of the Philadelphia (Ph1) chromosome and is present in most of CML patients.", "output": {"entities": {"gene": [{"text": "Ph1", "start": 222, "end": 225}], "disease": [{"text": "myeloproliferative disorder", "start": 47, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Relative to control, DIO enhanced M-Wnt (P = 0. 01), but not E-Wnt, tumor progression; upregulated EMT-and TIC-associated markers including N-cadherin, fibronectin, TGFβ, Snail, FOXC2, and Oct4 (P < 0. 05, each); and increased intratumoral adipocytes.", "output": {"entities": {"gene": [{"text": "EMT", "start": 99, "end": 102}], "disease": [{"text": "tumor progression", "start": 68, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the individual role of each subunit in the hypoxic response and induction of VEGF, HIF-alpha protein and HIF-alpha and VEGF mRNA levels were further studied in cultured breast cancer cells after hypoxic induction and/or knockdown of HIF-alpha subunits by siRNA by Western blot and Quantitative Real-Time PCR techniques.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 89, "end": 93}], "disease": [{"text": "hypoxic", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.", "output": {"entities": {"gene": [{"text": "SSTR5", "start": 141, "end": 146}], "disease": [{"text": "major depression", "start": 51, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SSTR5", "start": 141, "end": 146}, "tail": {"text": "major depression", "start": 51, "end": 67}}]}}, "schema": []}
{"input": "The purpose of this study was to evaluate the role of E-cadherin gene alterations in genesis and progression of bladder carcinoma by mutation analysis of coding region, expression analysis and microsatellite instability at E-cadherin chromosome locus.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 54, "end": 64}], "disease": [{"text": "microsatellite instability", "start": 193, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "These findings differ from polymyositis (PM) but are closely similar to those in SJL/J mice (which lack dysferlin) and emphasize the relationship between absence of dysferlin and immune system abnormalities in muscle.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 104, "end": 113}], "disease": [{"text": "abnormalities", "start": 193, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Renal stress caused by brain death induces expression of the cytoprotective genes HO-1 and HSP70, but not of HSP27 and HSP40.", "output": {"entities": {"gene": [{"text": "HSP40", "start": 119, "end": 124}], "disease": [{"text": "brain death", "start": 23, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of PAR-2 mRNA in allergic rhinitis nasal mucosa were significantly up-regulated as compared with those in normal nasal mucosa.", "output": {"entities": {"gene": [{"text": "PAR", "start": 25, "end": 28}], "disease": [{"text": "rhinitis", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "SUR2 proteins are a component of the ATP-sensitive potassium (\" KATP \") channel, a metabolic sensor for stress and/or hypoxia that has been shown to change in aging.", "output": {"entities": {"gene": [{"text": "SUR2", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "A large five-generation family was identified in which the recently described arginine-vasopressin receptor type 2 (AVPR2) mutation that is responsible for NSIAD was segregated.", "output": {"entities": {"gene": [{"text": "AVPR2", "start": 116, "end": 121}], "disease": [{"text": "NSIAD", "start": 156, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AVPR2", "start": 116, "end": 121}, "tail": {"text": "NSIAD", "start": 156, "end": 161}}]}}, "schema": []}
{"input": "Mutations in both CLN6 alleles were found in the three type A cases and in one family affected by unclassified Kufs disease.", "output": {"entities": {"gene": [{"text": "CLN6", "start": 18, "end": 22}], "disease": [{"text": "Kufs disease", "start": 111, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLN6", "start": 18, "end": 22}, "tail": {"text": "Kufs disease", "start": 111, "end": 123}}]}}, "schema": []}
{"input": "These results explain why this patient with a mutation in exon 3II of the ACOX1 gene, but with normal expression of exon 3I, was indistinguishable from other patients with peroxisomal acyl-CoA oxidase deficiency with respect to his clinical presentation and the biochemical abnormalities in his fibroblasts.", "output": {"entities": {"gene": [{"text": "ACOX1", "start": 74, "end": 79}], "disease": [{"text": "peroxisomal acyl-CoA oxidase deficiency", "start": 172, "end": 211}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACOX1", "start": 74, "end": 79}, "tail": {"text": "peroxisomal acyl-CoA oxidase deficiency", "start": 172, "end": 211}}]}}, "schema": []}
{"input": "The risk conferred by 1858T allele on GAD positivity was additive, and our meta-analysis also supported an additive rather than dominant effect of this variant on type 1 diabetes, similar to previous reports on rheumatoid arthritis and systemic lupus erythematosus.", "output": {"entities": {"gene": [{"text": "GAD", "start": 38, "end": 41}], "disease": [{"text": "systemic lupus erythematosus", "start": 236, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Conversely, upregulation of CD39 by somatic gene transfer or administration of soluble NTPDases has major benefits in models of transplantation and inflammation.", "output": {"entities": {"gene": [{"text": "CD39", "start": 28, "end": 32}], "disease": [{"text": "inflammation", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Cerebellar ataxia with cerebellar atrophy on MRI and severe axonal sensorimotor neuropathy were present in all patients.", "output": {"entities": {"gene": [{"text": "MRI", "start": 45, "end": 48}], "disease": [{"text": "axonal sensorimotor neuropathy", "start": 60, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "CD13 was often detected in ETV6-RUNX1 with additional RUNX1 gain (38%) with an even higher frequency in double ETV6-RUNX1 translocation (77%), but was not detected in RUNX1 amplification (0%, P <. 05).", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 32, "end": 37}], "disease": [{"text": "translocation", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS.", "output": {"entities": {"gene": [{"text": "STIM1", "start": 49, "end": 54}], "disease": [{"text": "YPS", "start": 113, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STIM1", "start": 49, "end": 54}, "tail": {"text": "YPS", "start": 113, "end": 116}}]}}, "schema": []}
{"input": "We observed an association between male infertility and the GSTM1 and GSTT1 null deletion, but not with the CYP1A1 polymorphism in North Iranian men with idiopathic infertility.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 108, "end": 114}], "disease": [{"text": "infertility", "start": 40, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "EGFR mutations were almost exclusively found in never-smoking females (p = 0. 0067).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.", "output": {"entities": {"gene": [{"text": "phenylalanine hydroxylase", "start": 25, "end": 50}], "disease": [{"text": "phenylketonuria", "start": 120, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "phenylalanine hydroxylase", "start": 25, "end": 50}, "tail": {"text": "phenylketonuria", "start": 120, "end": 135}}]}}, "schema": []}
{"input": "The immunoprofile of odontogenic keratocyst (keratocystic odontogenic tumor) that includes expression of PTCH, SMO, GLI-1 and bcl-2 is similar to ameloblastoma but different from odontogenic cysts.", "output": {"entities": {"gene": [{"text": "SMO", "start": 111, "end": 114}], "disease": [{"text": "odontogenic cysts", "start": 179, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Loss of SOX17 removes the normal inhibition of WNT signaling and promotes esophageal tumorigenesis.", "output": {"entities": {"gene": [{"text": "SOX17", "start": 8, "end": 13}], "disease": [{"text": "esophageal", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Homozygous mutation in ELMO2 may cause Ramon syndrome.", "output": {"entities": {"gene": [{"text": "ELMO2", "start": 23, "end": 28}], "disease": [{"text": "Ramon syndrome", "start": 39, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ELMO2", "start": 23, "end": 28}, "tail": {"text": "Ramon syndrome", "start": 39, "end": 53}}]}}, "schema": []}
{"input": "The Pro12Ala polymorphism of peroxisome proliferator-activated receptor-gamma2 in diabetes patients was associated with increased waist circumference and waist to hip ratio.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor", "start": 29, "end": 71}], "disease": [{"text": "waist to hip ratio", "start": 154, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Global gene expression scans show that the TNMD gene also is expressed in human adipose tissue and that its expression is regulated in response to weight reduction; however, more detailed information is lacking.", "output": {"entities": {"gene": [{"text": "TNMD gene", "start": 43, "end": 52}], "disease": [{"text": "weight reduction", "start": 147, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Anti-beta (2)-GPI antibody binding has been shown to induce nuclear factor-kappa B (NF-kappa B) translocation leading to a proinflammatory EC phenotype similar to that elicited by interaction with microbial products (lipopolysaccharide [LPS]) and proinflammatory cytokines (interleukin 1 beta [IL-1 beta], tumor necrosis factor alpha [TNF-alpha]).", "output": {"entities": {"gene": [{"text": "GPI", "start": 14, "end": 17}], "disease": [{"text": "translocation", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Genetic disruption of cytosine DNA methyltransferase enzymes induces chromosomal instability in human cancer cells.", "output": {"entities": {"gene": [{"text": "DNA methyltransferase", "start": 31, "end": 52}], "disease": [{"text": "chromosomal instability", "start": 69, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "There were no intracranial hemorrhages in the urokinase group, compared with a rate of 1. 5% in the rt-PA PAO group (P =. 087) and 1. 9% in the rt-PA DVT group (P =. 175).", "output": {"entities": {"gene": [{"text": "PAO", "start": 106, "end": 109}], "disease": [{"text": "intracranial hemorrhages", "start": 14, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "In addition, we observed several putative transcription factor binding sites in the TSP-1 promoter, including those for AP-1 (activator protein-1), CREB (cAMP response element binding protein), NF-kappaB (nuclear factor-kappaB), SRF (serum response factor) and HSF (heat-shock factor), by sequence mapping.", "output": {"entities": {"gene": [{"text": "CREB", "start": 148, "end": 152}], "disease": [{"text": "shock", "start": 271, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Compared with the room-air control group, the contents of MDA [(2. 24 +/-0. 43) mmol/g vs. (1. 57 +/-0. 31) mmol/g] and the activities of MPO [(1. 24 +/-0. 25) U/g vs. (0. 69 +/-0. 22) U/g] from lung tissue were elevated at 12 hours and 24 hours of hyperoxia exposure, respectively, and they further increased with prolongation of hyperoxia exposure (P < 0. 05 or P < 0. 01).", "output": {"entities": {"gene": [{"text": "MPO", "start": 138, "end": 141}], "disease": [{"text": "hyperoxia", "start": 249, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria.", "output": {"entities": {"gene": [{"text": "CTH", "start": 31, "end": 34}], "disease": [{"text": "cystathioninuria", "start": 67, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTH", "start": 31, "end": 34}, "tail": {"text": "cystathioninuria", "start": 67, "end": 83}}]}}, "schema": []}
{"input": "The present findings suggest that decorin and thrombospondin-1 may participate in the development of tubulointerstitial fibrosis and may have some relation with TGF-beta1 in mercuric chloride-treated BN rats.", "output": {"entities": {"gene": [{"text": "thrombospondin-1", "start": 46, "end": 62}], "disease": [{"text": "fibrosis", "start": 120, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "thrombospondin-1", "start": 46, "end": 62}, "tail": {"text": "fibrosis", "start": 120, "end": 128}}]}}, "schema": []}
{"input": "In the present study, we explored the expression level of lncRNA MALAT1 in primary glioma tissues as well as in U87 and U251 glioma cell lines.", "output": {"entities": {"gene": [{"text": "U87", "start": 112, "end": 115}], "disease": [{"text": "glioma", "start": 83, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The cold and menthol receptor, TRPM8, is the predominant thermoceptor for cellular and behavioral responses to cold temperatures.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 31, "end": 36}], "disease": [{"text": "cold", "start": 4, "end": 8}]}, "relations": {}}, "schema": []}
{"input": "Twelve of 67 (18%) patients without the 17p deletion showed a TP53 mutation and 50% showed evidence of uniparental disomy.", "output": {"entities": {"gene": [{"text": "TP53", "start": 62, "end": 66}], "disease": [{"text": "uniparental disomy", "start": 103, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In our recent clinical trial, treatment with the vascular endothelial growth factor A (VEGF-A) antibody, bevacizumab, followed by a combination of bevacizumab and radiation led to near complete necrosis in nearly half of sarcomas.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 87, "end": 93}], "disease": [{"text": "necrosis", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "In both CHC and NAFLD patient groups, serum levels of miR-122 and miR-34a correlated with liver enzymes levels, fibrosis stage and inflammation activity.", "output": {"entities": {"gene": [{"text": "miR-122", "start": 54, "end": 61}], "disease": [{"text": "inflammation", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The existence of distinguishing molecular features was explored in a series of serrated polyps and matched normal mucosa from patients with and without hyperplastic polyposis by assessing mutation of BRAF, DNA methylation in 14 markers (MINTs 1, 2 and 31, p16, MGMT, MLH1, RASSF1, RASSF2, NORE1 (RASSF5), RKIP, MST1, DAPK, FAS, and CHFR), and immunoexpression of MLH1.", "output": {"entities": {"gene": [{"text": "RASSF5", "start": 296, "end": 302}], "disease": [{"text": "polyposis", "start": 165, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "VEGF (and other proteins, such as erythropoietin (EPO)) are produced in response to hypoxia via a common pathway involving a specific transcription factor (hypoxia-inducible factor, HIF) and a hypoxia responsive element (HRE) in the respective genes' promoter regions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Identical mutations in the dysferlin gene can produce more than one myopathy phenotype (MM, limb girdle dystrophy, distal myopathy with anterior tibial onset).", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 27, "end": 36}], "disease": [{"text": "MM", "start": 88, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dysferlin", "start": 27, "end": 36}, "tail": {"text": "MM", "start": 88, "end": 90}}]}}, "schema": []}
{"input": "Furthermore, TLS-containing intracellular inclusions are found in polyglutamine diseases, sporadic ALS, non-SOD1 familial ALS and a subset of frontotemporal lobar degeneration, indicating a pathological significance of TLS in a wide variety of neurodegenerative diseases.", "output": {"entities": {"gene": [{"text": "TLS", "start": 13, "end": 16}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "SurvivinsiRNA and the survivin-siRNA/scFv-TfR conjugate were constructed and used successfully to inhibit glioma U87 cell proliferation and enhance apoptosis in vitro.", "output": {"entities": {"gene": [{"text": "U87", "start": 113, "end": 116}], "disease": [{"text": "glioma", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The main objectives of the present study were to determine the factors influencing vitamin D status in relation to serum 25-hydroxyvitamin D (25 (OH) D), intact parathyroid hormone (PTH), bone turnover markers (BTMs), bone mineral density (BMD), and vitamin D receptor genotype (VDR) in healthy Saudi pre-and postmenopausal women.", "output": {"entities": {"gene": [{"text": "PTH", "start": 182, "end": 185}], "disease": [{"text": "bone mineral density", "start": 218, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.", "output": {"entities": {"gene": [{"text": "SMARCD1", "start": 54, "end": 61}], "disease": [{"text": "intellectual disability", "start": 113, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMARCD1", "start": 54, "end": 61}, "tail": {"text": "intellectual disability", "start": 113, "end": 136}}]}}, "schema": []}
{"input": "The findings suggest that the clinical variability of the WAS can partially be explained by the level of WASP protein in the patient' s cells.", "output": {"entities": {"gene": [{"text": "WASP", "start": 105, "end": 109}], "disease": [{"text": "WAS", "start": 58, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WASP", "start": 105, "end": 109}, "tail": {"text": "WAS", "start": 58, "end": 61}}]}}, "schema": []}
{"input": "LPS stimulation in an hypoxic environment did not change VEGF levels, suggesting that LPS induced VEGF production in macrophages is more important than the hypoxic induction.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 57, "end": 61}], "disease": [{"text": "hypoxic", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "It was found to be a major developmental regulator, because natural Pit-1 gene mutations cause a dwarf phenotype in mice and cause combined pituitary hormone deficiency associated with pituitary hypoplasia in humans.", "output": {"entities": {"gene": [{"text": "Pit-1", "start": 68, "end": 73}], "disease": [{"text": "pituitary hormone deficiency", "start": 140, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "VEGF-enhanced proliferation under hypoxia by an autocrine mechanism in human vascular smooth muscle cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We previously reported that compared to health controls, patients with liver cirrhosis present the highest levels of circulating miR-885-5p, followed by those with chronic hepatitis B and those with HCC.", "output": {"entities": {"gene": [{"text": "miR-885", "start": 129, "end": 136}], "disease": [{"text": "liver cirrhosis", "start": 71, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-885", "start": 129, "end": 136}, "tail": {"text": "liver cirrhosis", "start": 71, "end": 86}}]}}, "schema": []}
{"input": "We investigated the association between the polymorphisms of the GAD2 and DRD2 genes and obesity with a higher body mass index (BMI) in Taiwanese patients.", "output": {"entities": {"gene": [{"text": "GAD2", "start": 65, "end": 69}], "disease": [{"text": "body mass index", "start": 111, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The mean CSF IL-6 and GFAP concentrations during the initial NMOSD attack were 91. 4 pg/ml and 369. 3 ng/ml, respectively, and were significantly higher than in ONNDs, idiopathic optic neuritis and myelitis patients (P < 0. 01).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 13, "end": 17}], "disease": [{"text": "myelitis", "start": 198, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "An increase in inducible nitric oxide synthase (INOS, 3-fold) and manganese superoxide dismutase (MnSOD, 1. 6-fold), detection of nitrotyrosine, beta-cell apoptosis, and nucleocytoplasmic translocation of pancreas duodenum homeobox-1 (PDX-1) in beta-cells indicated increased oxygen radical formation.", "output": {"entities": {"gene": [{"text": "PDX-1", "start": 235, "end": 240}], "disease": [{"text": "translocation", "start": 188, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Here, we use RNAi technology to identify a novel oncogenic pathway that involves aberrant activation of the TYK2 tyrosine kinase and its downstream substrate, STAT1, which ultimately promotes T-ALL cell survival through the upregulation of BCL2 expression", "output": {"entities": {"gene": [{"text": "TYK2", "start": 108, "end": 112}], "disease": [{"text": "T-ALL", "start": 192, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TYK2", "start": 108, "end": 112}, "tail": {"text": "T-ALL", "start": 192, "end": 197}}]}}, "schema": []}
{"input": "Intestinal epithelial cell-lines (SW480, HT29, HCT116) were stimulated with CSE and nicotine (to mimic smoking) ± TNFα (to mimic inflammation).", "output": {"entities": {"gene": [{"text": "CSE", "start": 76, "end": 79}], "disease": [{"text": "inflammation", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "In primary tumours with more than 60% aneuploid cells, predominantly aneuploid macrometastasis were found, whereas diploid primary tumours only showed diploid micrometastases or macrometastases in their SLN.", "output": {"entities": {"gene": [{"text": "SLN", "start": 203, "end": 206}], "disease": [{"text": "aneuploid", "start": 38, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Expression levels of E-cadherin and beta-catenin mRNA and/or protein in the endometrium of infertile patients with endometriosis (n = 151), those with uterine fibromas (n = 41), patients with unexplained infertility (n = 9), as well as healthy fertile controls (n = 57) were measured.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 21, "end": 31}], "disease": [{"text": "infertile", "start": 91, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Serial measures of CAC quantify progression of calcified coronary artery plaque.", "output": {"entities": {"gene": [{"text": "CAC", "start": 19, "end": 22}], "disease": [{"text": "plaque", "start": 73, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the discriminative value of six peptides that were previously proposed to be generated by breast cancer specific exoproteases: bradykinin, des-Arg (9)-bradykinin, Hyp (3)-bradykinin, and fragments of fibrinogen alpha-chain (Fib-alpha ([605-629])), complement component 4a (C4a ([1337-1350])), and interalpha trypsin inhibitor heavy chain 4 (ITIH4 ([666-687])).", "output": {"entities": {"gene": [{"text": "C4a", "start": 304, "end": 307}], "disease": [{"text": "fibrinogen", "start": 231, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "These results are consistent with a role of the PENK gene in opioid dependence.", "output": {"entities": {"gene": [{"text": "PENK", "start": 48, "end": 52}], "disease": [{"text": "opioid dependence", "start": 61, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PENK", "start": 48, "end": 52}, "tail": {"text": "opioid dependence", "start": 61, "end": 78}}]}}, "schema": []}
{"input": "In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.", "output": {"entities": {"gene": [{"text": "MKP1", "start": 56, "end": 60}], "disease": [{"text": "depression", "start": 182, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MKP1", "start": 56, "end": 60}, "tail": {"text": "depression", "start": 182, "end": 192}}]}}, "schema": []}
{"input": "RhoC is essential for the metastasis of gastric cancer.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 0, "end": 4}], "disease": [{"text": "gastric cancer", "start": 40, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "(2) NKX2. 5 mutations are rare in sporadic CHD patients.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 4, "end": 11}], "disease": [{"text": "sporadic", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the difference in the amount of truncated XPA protein correlated with the mildness of neurological manifestations in these three atypical group-A XP patients.", "output": {"entities": {"gene": [{"text": "XPA", "start": 55, "end": 58}], "disease": [{"text": "neurological manifestations", "start": 99, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "This study provides a conceptual framework for understanding intravascular lipolysis and GPIHBP1 and LPL mutations causing familial chylomicronemia.", "output": {"entities": {"gene": [{"text": "LPL", "start": 101, "end": 104}], "disease": [{"text": "familial chylomicronemia", "start": 123, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 101, "end": 104}, "tail": {"text": "familial chylomicronemia", "start": 123, "end": 147}}]}}, "schema": []}
{"input": "HLA-related gene (s) must, in addition, be involved to account for hypergammaglobulinemia G in the HLA DR3-positive subset of patients.", "output": {"entities": {"gene": [{"text": "DR3", "start": 103, "end": 106}], "disease": [{"text": "hypergammaglobulinemia", "start": 67, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "To examine the role of HESR1 in retinal neovascularization, we transfected retinal vascular endothelial cells (HRCECs) with the HESR1 gene and studied its effects on the expression of angiogenic factors, on the proliferation and migration of endothelial cells, and on the formation of tube-like structures (TLSs).", "output": {"entities": {"gene": [{"text": "HESR1", "start": 23, "end": 28}], "disease": [{"text": "retinal neovascularization", "start": 32, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "All familial and seven additional sporadic patients with FHM were analyzed to search for mutations within the CACNA1A gene by applying the double gradient-denaturant gradient electrophoresis technique.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 110, "end": 117}], "disease": [{"text": "FHM", "start": 57, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 110, "end": 117}, "tail": {"text": "FHM", "start": 57, "end": 60}}]}}, "schema": []}
{"input": "We sequenced the minimal promoter region of LGI1 in the probands of 16 ADLTE families and in 104 sporadic IPEAF patients and no mutations clearly linked to the disease were found.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 44, "end": 48}], "disease": [{"text": "sporadic", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "TGL groups had reduced proteinuria, serum creatinine, and glomerulosclerosis versus CONT, in contrast to no significant effect with TRX alone (sclerosis index, 0 to 4 + scale: CONT 1. 99 +/-0. 42, TGL 0. 85 +/-0. 12, TGL + TRX 0. 56 +/-0. 14, TRX 1. 30 +/-0. 21; TGL, P < 0. 05; TGL + TRX, P = 0. 01 vs. CONT).", "output": {"entities": {"gene": [{"text": "TRX", "start": 132, "end": 135}], "disease": [{"text": "proteinuria", "start": 23, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND: Single nucleotide polymorphisms (SNPs) rs1035798 in RAGE gene, rs2073617 and rs2073618 in TNFRSF11B, and rs3732410 in Golgb1 will be investigated on whether there is an association with hemorrhagic stroke (HS) in Chinese population.", "output": {"entities": {"gene": [{"text": "TNFRSF11B", "start": 102, "end": 111}], "disease": [{"text": "hemorrhagic stroke", "start": 198, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD15 (R702W, G908R, and L1007finsC) SNPs in 87 asymptomatic serologically H. pylori-positive individuals (Group I), in 63 patients with antrum-predominant gastritis (Group II) and in 60 patients with corpus-predominant gastritis or pangastritis (Group III).", "output": {"entities": {"gene": [{"text": "TLR4", "start": 43, "end": 47}], "disease": [{"text": "asymptomatic", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Although induction of the acute-phase response with the administration of lipopolysaccharide (LPS) activated the CMV promoter/enhancer from the context of an adenoviral vector in a previous study, LPS resulted in only a modest induction of this promoter from an AAV vector in vivo.", "output": {"entities": {"gene": [{"text": "AAV", "start": 262, "end": 265}], "disease": [{"text": "acute-phase response", "start": 26, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "VEGF expression is stimulated by hypoxia-dependent and-independent mechanisms.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that the promoter hypermethylation of cancer-related genes, especially CDH1, is frequently shown in SCCs, and dysregulation of the RB1/p16 and/or p53 pathway through either genetic or epigenetic mechanisms, except for epigenetic abnormalities of p53 itself, should contribute to the carcinogenesis of SCCs.", "output": {"entities": {"gene": [{"text": "CDH1", "start": 93, "end": 97}], "disease": [{"text": "abnormalities", "start": 251, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Chromosome translocation, B cell lymphoma, and activation-induced cytidine deaminase.", "output": {"entities": {"gene": [{"text": "activation-induced cytidine deaminase", "start": 47, "end": 84}], "disease": [{"text": "translocation", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the first step toward cyst formation in PKD2 patients is the loss of one functional copy of polycystin-2.", "output": {"entities": {"gene": [{"text": "polycystin-2", "start": 120, "end": 132}], "disease": [{"text": "PKD2", "start": 68, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "polycystin-2", "start": 120, "end": 132}, "tail": {"text": "PKD2", "start": 68, "end": 72}}]}}, "schema": []}
{"input": "The relative expression of TIMP 1 and TIMP 2 was significantly higher in scar tissue of patients with proliferative and mature hypertrophic scars and keloids than in their regular skin and in scar samples of patients with normotrophic scars.", "output": {"entities": {"gene": [{"text": "TIMP", "start": 27, "end": 31}], "disease": [{"text": "scars", "start": 140, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Presence of Xba I X + allele and/or EcoR I E-at the apoB gene may be risk factors for lipid abnormalities secondary to childhood PNS.", "output": {"entities": {"gene": [{"text": "apoB gene", "start": 52, "end": 61}], "disease": [{"text": "abnormalities", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "PAP was found in malignant ductular structures in pancreatic carcinomas as well as in benign proliferating ductules and acinar cells in chronic pancreatitis.", "output": {"entities": {"gene": [{"text": "PAP", "start": 0, "end": 3}], "disease": [{"text": "chronic pancreatitis", "start": 136, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Notably, we found hypoxia to induce the expression of alternative splicing factors (Clk1 and Clk4) as well as proliferation-and angiogenesis-promoting factors (Cyr61 and flTF).", "output": {"entities": {"gene": [{"text": "Clk1", "start": 84, "end": 88}], "disease": [{"text": "hypoxia", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.", "output": {"entities": {"gene": [{"text": "microtubule-associated protein tau", "start": 42, "end": 76}], "disease": [{"text": "frontotemporal dementia", "start": 96, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "microtubule-associated protein tau", "start": 42, "end": 76}, "tail": {"text": "frontotemporal dementia", "start": 96, "end": 119}}]}}, "schema": []}
{"input": "We investigated by immunohistochemistry expressions of topoisomerase alpha II, MIB-1, p53, p21, E-cadherin, retinoblastoma (RB) gene protein product, HER-2/neu, and steroid hormone receptors in a case of juvenile respiratory papillomatosis with malignant transformation to determine whether these markers are associated with malignant transformation.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 96, "end": 106}], "disease": [{"text": "respiratory papillomatosis", "start": 213, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "IL-6 and sIL-6R may contribute to the pathogenesis of endometriosis-associated infertility.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 0, "end": 4}], "disease": [{"text": "infertility", "start": 79, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The elevated AMH levels may reflect abnormalities in AMH signaling.", "output": {"entities": {"gene": [{"text": "AMH", "start": 13, "end": 16}], "disease": [{"text": "abnormalities", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Therefore, RGS22 may be an important tumor suppressor gene in tumorigenesis, a potential new diagnostic and prognostic biomarker for metastasis and may translate to therapeutic opportunities for the preventive treatment of epithelial cancer metastasis.", "output": {"entities": {"gene": [{"text": "RGS22", "start": 11, "end": 16}], "disease": [{"text": "tumorigenesis", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Of the 19 patients with contactin-associated protein-antibody-2, 10 had neuromyotonia or Morvan' s syndrome, compared with only 3 of the 55 leucine-rich, glioma inactivated 1 protein-antibody positive patients (P < 0. 0001), who predominantly had limbic encephalitis.", "output": {"entities": {"gene": [{"text": "contactin-associated protein", "start": 24, "end": 52}], "disease": [{"text": "limbic encephalitis", "start": 247, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Here we show that podoplanin promotes tumorigenesis of oral squamous cell carcinoma (OSCC) and precancerous cells both in vitro and in vivo, and the ErbB3-binding protein-1 (Ebp1) can be activated in oral tumorigenesis and can serve as a transcriptional activator to drive podoplanin expression in the malignant progression.", "output": {"entities": {"gene": [{"text": "podoplanin", "start": 18, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The objective of the present study was to investigate any variation in the PPARG and PPARA genes associated with the risk of fluid retention and development of peripheral edema in patients with type 2 diabetes treated with the dual-acting PPARalpha/gamma agonist ragaglitazar.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 75, "end": 80}], "disease": [{"text": "peripheral edema", "start": 160, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Transcription factor Ets-1 mediates ischemia-and vascular endothelial growth factor-dependent retinal neovascularization.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 21, "end": 26}], "disease": [{"text": "ischemia", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The hypoxia-inducible expression of VEGF was evaluated by in vitro transfection assay.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxia", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "In contrast to PSMA/NAALAD1, NAALADL2 was localized at the basal cell surface where it promotes adhesion to extracellular matrix proteins.", "output": {"entities": {"gene": [{"text": "NAALADL2", "start": 29, "end": 37}], "disease": [{"text": "adhesion", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "FROUNT, CCR2, and CCL2 mRNA levels were higher in the severe HF subgroup than in the mild HF subgroup.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 8, "end": 12}], "disease": [{"text": "mild", "start": 85, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The iron content of the incisor enamel was reduced, explaining the loss of yellow pigmentation in CFTR (-) incisors.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 98, "end": 102}], "disease": [{"text": "pigmentation", "start": 82, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in nucleotide excision repair (NER) genes may cause variations in DNA repair capacity and increase susceptibility to bladder cancer through complex gene-gene and gene-smoking interactions.", "output": {"entities": {"gene": [{"text": "NER", "start": 45, "end": 48}], "disease": [{"text": "smoking", "start": 181, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "We show that cells deficient in the HOIP ligase complex exhibit hypersensitivity to cisplatin.", "output": {"entities": {"gene": [{"text": "HOIP", "start": 36, "end": 40}], "disease": [{"text": "hypersensitivity", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Germline silencing of the PD-related protein LRRK2 does not alter glutamate or dopamine release in adult mice, but some exploratory abnormalities have been reported with ageing.", "output": {"entities": {"gene": [{"text": "LRRK2", "start": 45, "end": 50}], "disease": [{"text": "abnormalities", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Stromal Cell-Derived Factor-1 Plasmid Treatment for Patients with Heart Failure (STOP-HF) is a Phase II, double-blind, randomized, placebo-controlled trial to evaluate safety and efficacy of a single treatment of plasmid stromal cell-derived factor-1 (pSDF-1) delivered via endomyocardial injection to patients with ischaemic heart failure (IHF).", "output": {"entities": {"gene": [{"text": "STOP", "start": 81, "end": 85}], "disease": [{"text": "blind", "start": 112, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, Pim1 overexpression, in combination with the hormone treatment, increased inflammation surrounding target tissues leading to pyelonephritis in transgenic animals.", "output": {"entities": {"gene": [{"text": "Pim1", "start": 13, "end": 17}], "disease": [{"text": "pyelonephritis", "start": 138, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pim1", "start": 13, "end": 17}, "tail": {"text": "pyelonephritis", "start": 138, "end": 152}}]}}, "schema": []}
{"input": "His germline karyotype of 46, XY, der (8) t (2; 8) (p21; p23. 2) was inherited from a maternal-balanced translocation, which indicates that the proto-oncogene MYCN region of 2p24. 3 is tripicated in germline cells.", "output": {"entities": {"gene": [{"text": "oncogene MYCN", "start": 150, "end": 163}], "disease": [{"text": "translocation", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In leptin receptor-deficient obese Zucker rats, with 75% higher body weight than lean littermates, GALP mRNA levels in the ARC were decreased by 75%, while neuropeptide Y (NPY) mRNA levels were increased 7-fold (n = 5, p < 0. 001), consistent with earlier reports.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 3, "end": 18}], "disease": [{"text": "body weight", "start": 64, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Novel prostate cancer associations for several well characterized genes or full length cDNAs were identified, including PLRP1, JM27, human UbcM2, dynein light intermediate chain 2 and human homologue of rat sec61.", "output": {"entities": {"gene": [{"text": "PLRP1", "start": 120, "end": 125}], "disease": [{"text": "prostate cancer", "start": 6, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "It was suggested that aberrant ING5 expression may contribute to pathogenesis, growth, and invasion of gastric carcinomas and could be considered as a promising marker to gauge aggressiveness and prognosis of gastric carcinoma.", "output": {"entities": {"gene": [{"text": "ING5", "start": 31, "end": 35}], "disease": [{"text": "aggressiveness", "start": 177, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Immunostaining of PFN1 in sporadic ALS and familial ALS patients, including those with mutations in SOD1, FUS, UBQLN2 and C9ORF72, found no PFN1-positive inclusions in spinal motor neurons.", "output": {"entities": {"gene": [{"text": "FUS", "start": 106, "end": 109}], "disease": [{"text": "sporadic", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In addition, these compounds inhibited hypoxic induction of VEGF mRNA and protein expression in U251 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 60, "end": 64}], "disease": [{"text": "hypoxic", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Upon transfection with a cytomegalovirus-promoter-driven expression vector encoding the CD95 gene, CD95L (high) melanoma cells underwent apoptosis at a much higher level than CD95L (low) melanoma cells.", "output": {"entities": {"gene": [{"text": "CD95L", "start": 99, "end": 104}], "disease": [{"text": "cytomegalovirus", "start": 25, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.", "output": {"entities": {"gene": [{"text": "peripheral myelin protein 22", "start": 84, "end": 112}], "disease": [{"text": "Dejerine-sottas disease", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "peripheral myelin protein 22", "start": 84, "end": 112}, "tail": {"text": "Dejerine-sottas disease", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "FOXRED1 blockage could serve as a new animal model for Leigh syndrome due to defective CI, which echoes damage to corpus striatum and affection of the central dopaminergic system in this disease.", "output": {"entities": {"gene": [{"text": "FOXRED1", "start": 0, "end": 7}], "disease": [{"text": "Leigh syndrome", "start": 55, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FOXRED1", "start": 0, "end": 7}, "tail": {"text": "Leigh syndrome", "start": 55, "end": 69}}]}}, "schema": []}
{"input": "The corticotropin releasing hormone binding protein gene is likely to be involved in the genetic vulnerability for major depression.", "output": {"entities": {"gene": [{"text": "corticotropin releasing hormone binding protein", "start": 4, "end": 51}], "disease": [{"text": "major depression", "start": 115, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "corticotropin releasing hormone binding protein", "start": 4, "end": 51}, "tail": {"text": "major depression", "start": 115, "end": 131}}]}}, "schema": []}
{"input": "Two out of three of the cases retained RUNX1' s entire RUNT domain in the translocation, and RUNX1 mutations were absent in the fusion transcripts, confirmed by reverse transcription-polymerase chain reaction and sequencing analysis.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 39, "end": 44}], "disease": [{"text": "translocation", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 76, "end": 97}], "disease": [{"text": "type 2 von Willebrand disease", "start": 120, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "von Willebrand factor", "start": 76, "end": 97}, "tail": {"text": "type 2 von Willebrand disease", "start": 120, "end": 149}}]}}, "schema": []}
{"input": "Higher serum PRL levels were observed in patients with endometriosis at baseline and after 15 and 30 min of TRH administration.", "output": {"entities": {"gene": [{"text": "PRL", "start": 13, "end": 16}], "disease": [{"text": "endometriosis", "start": 55, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRL", "start": 13, "end": 16}, "tail": {"text": "endometriosis", "start": 55, "end": 68}}]}}, "schema": []}
{"input": "Acute attacks, which may occur many hours after a procedure, may be treated with C1-INH; icatibant, a bradykinin B2-receptor antagonist; or ecallantide, a kallikrein inhibitor, all of which have been shown to reduce the duration and severity of HAE attacks.", "output": {"entities": {"gene": [{"text": "C1-INH", "start": 81, "end": 87}], "disease": [{"text": "HAE", "start": 245, "end": 248}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "C1-INH", "start": 81, "end": 87}, "tail": {"text": "HAE", "start": 245, "end": 248}}]}}, "schema": []}
{"input": "Unlike factor V Leiden and deficiencies of proteins C and S which cause venous thromboembolism, the prothrombin mutation in children is often associated with arterial thrombosis and with central nervous system events.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 7, "end": 22}], "disease": [{"text": "arterial thrombosis", "start": 158, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In the M. tuberculosis infection mouse model, infected Gab2-deficient mice exhibited decreased bacterial load and milder lung pathological damage compared with infected wild-type mice, accompanied by decreased production of IL-2, IL-6, and granulocyte/macrophage colony-stimulating factor proinflammatory cytokines, and an increased T-cell-specific T-box transcription factor/GATA binding protein 3 expression ratio.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 230, "end": 234}], "disease": [{"text": "tuberculosis infection", "start": 10, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Here we show that DA3 mouse mammary tumor cells stably transfected with a truncated genomic fragment of human MUC1 undergo EMT.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 110, "end": 114}], "disease": [{"text": "mammary tumor", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We report a 28-year-old-Japanese male who had a skin tumor derived from variant type xeroderma pigmentosum (XP), combined with factor XI (FXI) deficiency and type IIB von Willebrand' s disease (vWd).", "output": {"entities": {"gene": [{"text": "FXI", "start": 138, "end": 141}], "disease": [{"text": "skin tumor", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Common haplotype patterns in three of the four haplotype blocks spanning the gene encoding IGF1 were associated with mammographic density.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 91, "end": 95}], "disease": [{"text": "mammographic density", "start": 117, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We found that suppression of Rac1, a small GTP-binding protein, inhibited survival and produced apoptosis in three human glioma cell lines (U87, U343, and U373).", "output": {"entities": {"gene": [{"text": "U87", "start": 140, "end": 143}], "disease": [{"text": "glioma", "start": 121, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "HME may be a novel gastric tumor biomarker and its expression in gastric cancers may be related with lower metastatization rates with conseguent better prognosis.", "output": {"entities": {"gene": [{"text": "HME", "start": 0, "end": 3}], "disease": [{"text": "gastric tumor", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Three prostate cancer susceptibility single-nucleotide polymorphisms (rs1447295 at 8q24, rs7920517 and rs10993994 at 10q11) were associated with prostate-specific antigen recurrence (P < 0. 02).", "output": {"entities": {"gene": [{"text": "prostate-specific antigen", "start": 145, "end": 170}], "disease": [{"text": "prostate cancer susceptibility", "start": 6, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Multiple epiphyseal dysplasia (MED) is a mild chondrodysplasia affecting the structural integrity of cartilage and causing early-onset osteoarthrosis in adulthood.", "output": {"entities": {"gene": [{"text": "MED", "start": 31, "end": 34}], "disease": [{"text": "mild", "start": 41, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We present a case of FHH patient to describe a novel mutation in the CASR.", "output": {"entities": {"gene": [{"text": "CASR", "start": 69, "end": 73}], "disease": [{"text": "FHH", "start": 21, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CASR", "start": 69, "end": 73}, "tail": {"text": "FHH", "start": 21, "end": 24}}]}}, "schema": []}
{"input": "Bcl-2 transfection in the peri-infarct region blocked nuclear AIF translocation and improved cortical neuron survival.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, FAS overexpression is an early phenonemon in spontaneous, hormonally and chemically induced rat hepatocarcinogenesis, demonstrable in early clear-cell (glycogenotic) FAH and hepatocellular neoplasms.", "output": {"entities": {"gene": [{"text": "FAH", "start": 181, "end": 184}], "disease": [{"text": "hepatocarcinogenesis", "start": 111, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Genes up-regulated in the viremic state, in particular CCL2, presumably serve as potential enhancing factors in HIV-1 replication, represented by high viral load in HIV-1 viremic patients.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 55, "end": 59}], "disease": [{"text": "viral load", "start": 151, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the ASAH1 expression levels in 30 subjects with chronic schizophrenia and 30 healthy controls by using real-time polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "ASAH1", "start": 17, "end": 22}], "disease": [{"text": "chronic schizophrenia", "start": 61, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ASAH1", "start": 17, "end": 22}, "tail": {"text": "chronic schizophrenia", "start": 61, "end": 82}}]}}, "schema": []}
{"input": "This response was greater when CM was produced under hypoxia, and was reduced by VEGF-A or FGF-2 neutralizing antibodies.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 81, "end": 87}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk.", "output": {"entities": {"gene": [{"text": "TC2", "start": 27, "end": 30}], "disease": [{"text": "head and neck squamous cell carcinoma", "start": 68, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have highlighted the relevance of several GEFs, including the phosphatidylinositol 3, 4, 5-trisphosphate Rac exchangers P-Rex1 and P-Rex2a, in breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "P-Rex1", "start": 135, "end": 141}], "disease": [{"text": "tumorigenesis", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Prospective cohort study based on 54 general practices in the UK; 657 survivors of the 1088 participants in the MRC treatment trial of hypertension in older adults were followed for up to 11 years; 370 participants (57% of survivors) were traced, screened for dementia, and genotyped for APOE in 1994.", "output": {"entities": {"gene": [{"text": "MRC", "start": 112, "end": 115}], "disease": [{"text": "dementia", "start": 260, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Notable clinical differences between the two groups were hepatopathy, found in 38% of SUCLG1 cases but not in SUCLA2 cases, and hypertrophic cardiomyopathy which was not reported in SUCLA2 patients, but documented in 14% of cases with SUCLG1 mutations.", "output": {"entities": {"gene": [{"text": "SUCLA2", "start": 110, "end": 116}], "disease": [{"text": "hypertrophic cardiomyopathy", "start": 128, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "This is a randomized, double-blind, placebo-controlled study aimed to evaluate the clinical and biologic effects of letrozole plus lapatinib or placebo as neoadjuvant therapy in hormone receptor (HR)-positive/human epidermal growth factor receptor 2 (HER2)-negative operable breast cancer.", "output": {"entities": {"gene": [{"text": "HER2", "start": 251, "end": 255}], "disease": [{"text": "blind", "start": 29, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Association between the FTO gene and overweight in Japanese children and adolescents.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 24, "end": 32}], "disease": [{"text": "overweight", "start": 37, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the natural killer cell immunoglobulin-like receptor (KIR) genes and immunoglobulin allotypes in the development of type 2 diabetes (T2D) based on body mass index (BMI) measurements (obese vs. non-obese) in Puerto Rican Americans.", "output": {"entities": {"gene": [{"text": "KIR", "start": 66, "end": 69}], "disease": [{"text": "body mass index", "start": 159, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Both drugs block anchorage-independent growth in high-grade human uterine cancer cells that overexpress HMGA1a (MES-SA cells).", "output": {"entities": {"gene": [{"text": "HMGA1a", "start": 104, "end": 110}], "disease": [{"text": "uterine cancer", "start": 66, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGA1a", "start": 104, "end": 110}, "tail": {"text": "uterine cancer", "start": 66, "end": 80}}]}}, "schema": []}
{"input": "Associations between polymorphisms of SMAP1L and AIA were analyzed with sex, smoking status, atopy, and body mass index as covariates.", "output": {"entities": {"gene": [{"text": "SMAP1L", "start": 38, "end": 44}], "disease": [{"text": "body mass index", "start": 104, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "MEL exposure modulated the mitotic and apoptotic indices in the colonic adenocarcinomas that developed and lowered the immunohistochemical expression of nuclear factor kappa B, tumor necrosis factor alpha, interleukin-1beta and STAT3 in the epithelial malignancies.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor alpha", "start": 177, "end": 204}], "disease": [{"text": "adenocarcinomas", "start": 72, "end": 87}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "tumor necrosis factor alpha", "start": 177, "end": 204}, "tail": {"text": "adenocarcinomas", "start": 72, "end": 87}}]}}, "schema": []}
{"input": "All PGAs in LS patients were MSI-high and lost expression of mismatch-repair proteins (MLH1/PMS2 in 2 cases and MSH2/MSH6 in 1 case), whereas none of the 14 sporadic PGAs was MSI-high or had lost expression of mismatch-repair proteins.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 117, "end": 121}], "disease": [{"text": "sporadic", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "In this study histopathological and histochemical attributes for basement membrane and connective tissue in biopsies of oral sub-mucous fibrosis (n = 55) and normal oral mucosa (n = 16) were assessed and expressions of p63, E-cadherin, β-catenin, N-cadherin and TWIST were analyzed immunohistochemically.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 262, "end": 267}], "disease": [{"text": "fibrosis", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "An analysis of the expression of the 6 target genes in primary medulloblastoma tumor samples and cell lines revealed overexpression of LYK5 and PIK3CG.", "output": {"entities": {"gene": [{"text": "LYK5", "start": 135, "end": 139}], "disease": [{"text": "medulloblastoma", "start": 63, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LYK5", "start": 135, "end": 139}, "tail": {"text": "medulloblastoma", "start": 63, "end": 78}}]}}, "schema": []}
{"input": "We suggest early expression of YB-1 promotes proliferation and migration of myoFbs, whereas prolonged expression may be responsible for scar formation.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 31, "end": 35}], "disease": [{"text": "scar", "start": 136, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Stable expression of manganese superoxide dismutase (MnSOD) in insulinoma cells prevents IL-1beta-induced cytotoxicity and reduces nitric oxide production.", "output": {"entities": {"gene": [{"text": "manganese superoxide dismutase", "start": 21, "end": 51}], "disease": [{"text": "insulinoma", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.", "output": {"entities": {"gene": [{"text": "KCNJ13", "start": 23, "end": 29}], "disease": [{"text": "leber congenital amaurosis", "start": 96, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ13", "start": 23, "end": 29}, "tail": {"text": "leber congenital amaurosis", "start": 96, "end": 122}}]}}, "schema": []}
{"input": "The observed twofold upregulation of the DMT-1 is consistent with the slow but steady increase in body iron stores observed in those presenting with clinical features of hereditary hemochromatosis.", "output": {"entities": {"gene": [{"text": "DMT", "start": 41, "end": 44}], "disease": [{"text": "hereditary hemochromatosis", "start": 170, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described.", "output": {"entities": {"gene": [{"text": "connexin 26", "start": 28, "end": 39}], "disease": [{"text": "HID syndrome", "start": 48, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "connexin 26", "start": 28, "end": 39}, "tail": {"text": "HID syndrome", "start": 48, "end": 60}}]}}, "schema": []}
{"input": "Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 27, "end": 45}], "disease": [{"text": "multiple endocrine neoplasia type 2A", "start": 49, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 27, "end": 45}, "tail": {"text": "multiple endocrine neoplasia type 2A", "start": 49, "end": 85}}]}}, "schema": []}
{"input": "Loss of BRCA1 function leads to a profound increase in genomic instability involving the accumulation of mutations, DNA breaks and gross chromosomal rearrangements.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 8, "end": 13}], "disease": [{"text": "genomic instability", "start": 55, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We found that there was a highly significant difference in the hypoxic induction of VEGF in patients with no collaterals compared with patients with some collaterals (mean fold induction 1. 9 +/-0. 2 versus 3. 2 +/-0. 3, P < 0. 0001).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 84, "end": 88}], "disease": [{"text": "hypoxic", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "After renal transplantation, proband' s lipid profile, HDL subclass distribution, and plasma cholesterol esterification were almost at normal levels, suggesting a mild contribution of the LCAT P406L variant to his pretransplantation severe hypoalphalipoproteinemia and impairment of plasma cholesterol esterification.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 188, "end": 192}], "disease": [{"text": "mild", "start": 163, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Given the co-stimulatory role of natural-killer group 2, member D protein (NKG2D) on CD8 (+) T cells, we investigated its ability to rescue these immunologically impotent cells.", "output": {"entities": {"gene": [{"text": "NKG2D", "start": 75, "end": 80}], "disease": [{"text": "impotent", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.", "output": {"entities": {"gene": [{"text": "NAP1L4", "start": 200, "end": 206}], "disease": [{"text": "alcohol dependence", "start": 240, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NAP1L4", "start": 200, "end": 206}, "tail": {"text": "alcohol dependence", "start": 240, "end": 258}}]}}, "schema": []}
{"input": "Myelin transcription factor 1-like (MYT1L) is a member of the myelin transcription factor 1 (MYT1) gene family, and the neural specific, zinc-finger-containing, DNA-binding protein that it encodes plays a role in the development of the nervous system.", "output": {"entities": {"gene": [{"text": "MYT1L", "start": 36, "end": 41}], "disease": [{"text": "nervous system", "start": 236, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.", "output": {"entities": {"gene": [{"text": "RDH5", "start": 8, "end": 12}], "disease": [{"text": "fundus albipunctatus", "start": 45, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDH5", "start": 8, "end": 12}, "tail": {"text": "fundus albipunctatus", "start": 45, "end": 65}}]}}, "schema": []}
{"input": "We provide here a list of protein phosphorylation sites identified from HT-29 human colon adenocarcinoma cell line by immobilized metal affinity chromatography (IMAC) combined with liquid chromatography (LC)-tandem mass spectrometry (MS/MS) analysis.", "output": {"entities": {"gene": [{"text": "IMAC", "start": 161, "end": 165}], "disease": [{"text": "colon adenocarcinoma", "start": 84, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "IL-6/sIL-6R transgenic mice develop a severe phenotype showing 1) marked hepatocellular hyperplasia frequently surrounded by peliosis and necrosis, 2) significant acceleration and aggravation of plasmacytoma formation, and 3) excessive activation of extramedullary hematopoiesis in spleen and liver followed by a subsequent increase of all cellular components in the peripheral blood.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 0, "end": 4}], "disease": [{"text": "hyperplasia", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "TLS", "start": 10, "end": 13}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We were able to demonstrate ATP8B1 mutations in ICP.", "output": {"entities": {"gene": [{"text": "ATP8B1", "start": 28, "end": 34}], "disease": [{"text": "ICP", "start": 48, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP8B1", "start": 28, "end": 34}, "tail": {"text": "ICP", "start": 48, "end": 51}}]}}, "schema": []}
{"input": "We tested for gender-specific interactions between smoking and genetic polymorphisms of monoamine oxidase B (MAO-B) intron 13 (G or A allele), monoamine oxidase A (MAO-A) EcoRV (Yor N allele), and dopamine D2 recepor (DRD2) Taq1B (B1 or B2 allele) in a case-control study of 186 incident idiopathic Parkinson' s disease (PD) cases and 296 age-and gender-matched controls.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 218, "end": 222}], "disease": [{"text": "smoking", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We conclude that Bcl-xL expressed in human HCC cells inhibits apoptosis produced by various cellular stresses, such as staurosporine treatment, serum starvation, and p53 activation, and may play an important role in their survival.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 17, "end": 23}], "disease": [{"text": "starvation", "start": 150, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Using expression microarrays combined with whole-genome copy number screens on individual human tumors, we identified the mammalian sterile-20-like kinase (MST4) transcript, which was amplified within chromosome Xq26. 2 in one tumor and up-regulated in all gonadotrope tumor samples.", "output": {"entities": {"gene": [{"text": "MST4", "start": 156, "end": 160}], "disease": [{"text": "sterile", "start": 132, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Histone H3 lysine 4 (H3K4) can be mono-, di-, and trimethylated by members of the COMPASS (complex of proteins associated with Set1) family from Saccharomyces cerevisiae to humans, and these modifications can be found at distinct regions of the genome.", "output": {"entities": {"gene": [{"text": "Set1", "start": 127, "end": 131}], "disease": [{"text": "mono", "start": 34, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The TNF-alpha-308 * 2 polymorphism increased in subjects with atopic asthma vs. non-atopic controls after adjusting for age distribution (adjusted odds ratios, AOR = 2. 73, 95% confidence interval, CI = 1. 16-6. 64), but was not associated with non-atopic asthma (AOR = 2. 40, 95% CI = 0. 81-7. 09).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 4, "end": 13}], "disease": [{"text": "atopic", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "This study examined whether evidence of cerebrovascular disease in the form of magnetic resonance imaging (MRI) signal hyperintensities in white matter was associated with depressive symptoms in a high-functioning group of normal elderly volunteers.", "output": {"entities": {"gene": [{"text": "MRI", "start": 107, "end": 110}], "disease": [{"text": "cerebrovascular disease", "start": 40, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "CD276 and the alternative checkpoint inhibition PVR/NECTIN2/CD226/TIGIT pathway emerged as relevant to PC checkpoint inhibition target development.", "output": {"entities": {"gene": [{"text": "NECTIN2", "start": 52, "end": 59}], "disease": [{"text": "PC", "start": 103, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NECTIN2", "start": 52, "end": 59}, "tail": {"text": "PC", "start": 103, "end": 105}}]}}, "schema": []}
{"input": "Chronic beryllium disease, HLA-DPB1, and the DP peptide binding groove.", "output": {"entities": {"gene": [{"text": "HLA-DPB1", "start": 27, "end": 35}], "disease": [{"text": "Chronic beryllium disease", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HLA-DPB1", "start": 27, "end": 35}, "tail": {"text": "Chronic beryllium disease", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.", "output": {"entities": {"gene": [{"text": "CEP120", "start": 10, "end": 16}], "disease": [{"text": "asphyxiating thoracic dystrophy", "start": 35, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CEP120", "start": 10, "end": 16}, "tail": {"text": "asphyxiating thoracic dystrophy", "start": 35, "end": 66}}]}}, "schema": []}
{"input": "In response to G-CSF, mono-/polyubiquitination of the G-CSFR was impaired in cells expressing the mutant K762R/G-CSFR compared to cells transfected with the WT G-CSFR.", "output": {"entities": {"gene": [{"text": "CSFR", "start": 56, "end": 60}], "disease": [{"text": "mono", "start": 22, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The histopathological findings in the hind ankle sections of CD46 Tg mice showed the stimulation of osteoclast formation associated with inflammation of the synovial membrane and the development of aggressive granulation tissue (pannus).", "output": {"entities": {"gene": [{"text": "CD46", "start": 61, "end": 65}], "disease": [{"text": "inflammation", "start": 137, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "2B4 (CD244) signaling by recombinant antigen-specific chimeric receptors costimulates natural killer cell activation to leukemia and neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "CD244", "start": 5, "end": 10}], "disease": [{"text": "neuroblastoma", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The expression of VEGF, Ang2, ephrinB2 and EG-VEGF was detected by RT-PCR in 54 cases HCC without PVTT (group A), 9 cases HCC with PVTT (group B), 10 normal liver tissues (group D) and 10 cirrhosis tissues (group C).", "output": {"entities": {"gene": [{"text": "EG-VEGF", "start": 43, "end": 50}], "disease": [{"text": "cirrhosis", "start": 188, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "A case-control study involving 292 prostate-cancer patients and 384 controls revealed significant differences in regard to distribution of four missense variations in genes encoding plasminogen activator inhibitor 2 (PAI2) and SERPINB10.", "output": {"entities": {"gene": [{"text": "SERPINB10", "start": 227, "end": 236}], "disease": [{"text": "prostate-cancer", "start": 35, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SERPINB10", "start": 227, "end": 236}, "tail": {"text": "prostate-cancer", "start": 35, "end": 50}}]}}, "schema": []}
{"input": "Surprisingly, the majority of MPS IIIC patients carrying missense mutations are as severely affected as those with splicing errors, frame shifts or nonsense mutations resulting in the complete absence of HGSNAT protein. In order to understand the effects of the missense mutations in HGSNAT on its enzymatic activity and biogenesis, we have expressed 21 mutant proteins in cultured human fibroblasts and COS-7 cells and studied their folding, targeting and activity.", "output": {"entities": {"gene": [{"text": "HGSNAT", "start": 204, "end": 210}], "disease": [{"text": "MPS IIIC", "start": 30, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGSNAT", "start": 204, "end": 210}, "tail": {"text": "MPS IIIC", "start": 30, "end": 38}}]}}, "schema": []}
{"input": "We found that over-expressing NMNAT2 or its homolog NMNAT1, but not NMNAT3, in rTg4510 hippocampi from 6 weeks of age using recombinant adeno-associated viral vectors significantly reduced neurodegeneration caused by tau (P301L) over-expression at 5 months of age.", "output": {"entities": {"gene": [{"text": "NMNAT3", "start": 68, "end": 74}], "disease": [{"text": "neurodegeneration", "start": 189, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Talen-mediated girdin knockout downregulates cell proliferation, migration and invasion in human esophageal carcinoma ECA109 cells.", "output": {"entities": {"gene": [{"text": "girdin", "start": 15, "end": 21}], "disease": [{"text": "esophageal carcinoma", "start": 97, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The quantitative evaluation of the frequency of LOH by referencing PBLs may be a useful predictor for HCC development in chronic liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 102, "end": 105}], "disease": [{"text": "liver diseases", "start": 129, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We report that ErbB-2 overexpression enhanced binding affinities to both EGF and NDF, through deceleration of ligand dissociation rates.", "output": {"entities": {"gene": [{"text": "NDF", "start": 81, "end": 84}], "disease": [{"text": "dissociation", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The mechanism of PAK1 inhibition and induction of membranous translocation of adhesion proteins by 5-ASA might be independent of its known anti-inflammatory action.", "output": {"entities": {"gene": [{"text": "PAK1", "start": 17, "end": 21}], "disease": [{"text": "translocation", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, LASP1 overexpression contributes to cancer aggressiveness hinting to a potential value of LASP1 as a cancer biomarker.", "output": {"entities": {"gene": [{"text": "LASP1", "start": 13, "end": 18}], "disease": [{"text": "aggressiveness", "start": 56, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Family-based analyses detected associations between prostate cancer risk or aggressiveness and a number of CYP3A4 SNPs (P-values between 0. 006 and 0. 05), a CYP3A4 haplotype (P-values 0. 05 and 0. 009 in nonstratified and stratified analysis, respectively), and two SRD5A2 SNPs in strong linkage disequilibrium (P = 0. 02).", "output": {"entities": {"gene": [{"text": "SRD5A2", "start": 267, "end": 273}], "disease": [{"text": "aggressiveness", "start": 76, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Recently it has been documented that variations in the complement factor H (CFH) and LOC 387715 genes are the major risk factors that predispose individuals to dry and wet AMD.", "output": {"entities": {"gene": [{"text": "CFH", "start": 76, "end": 79}], "disease": [{"text": "dry", "start": 160, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these findings suggest that suppression of Src signaling in NAc D2-MSNs, via PRMT6 and H3R2me2a down-regulation, functions as a homeostatic brake to restrain cocaine action, and provide novel candidates for the development of treatments for cocaine addiction.", "output": {"entities": {"gene": [{"text": "PRMT6", "start": 93, "end": 98}], "disease": [{"text": "cocaine addiction", "start": 257, "end": 274}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRMT6", "start": 93, "end": 98}, "tail": {"text": "cocaine addiction", "start": 257, "end": 274}}]}}, "schema": []}
{"input": "In contrast, treatment with PAI-1R at 0. 5 mg (kg body weight) (-1) i. p., twice daily from week 20 to 22, reduced glomerular matrix accumulation, fibronectin and collagen production and albuminuria by 36, 62, 65 and 31%, respectively (P < 0. 05), without affecting blood glucose level or body weight.", "output": {"entities": {"gene": [{"text": "PAI", "start": 28, "end": 31}], "disease": [{"text": "body weight", "start": 50, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Eight cases of lymphoepithelial carcinoma (LEC) of the larynx and hypopharynx were evaluated for clinicopathologic features, and the presence of the Epstein-Barr virus (EBV) and p53 alterations.", "output": {"entities": {"gene": [{"text": "LEC", "start": 43, "end": 46}], "disease": [{"text": "lymphoepithelial carcinoma", "start": 15, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "U373, SF126, SF188) were screened for VEGF under normoxic and hypoxic (i. e.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 38, "end": 42}], "disease": [{"text": "hypoxic", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Two genes (Ercc1 and Mcm5) showed a highly significant correlation with AUD-induced decreases in the volume of the left parietal supramarginal gyrus and neuropsychological measures.", "output": {"entities": {"gene": [{"text": "Mcm5", "start": 21, "end": 25}], "disease": [{"text": "AUD", "start": 72, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mcm5", "start": 21, "end": 25}, "tail": {"text": "AUD", "start": 72, "end": 75}}]}}, "schema": []}
{"input": "Although more studies are necessary, our results suggest that UCP2 is not been used as a compensatory mechanism to oppose the higher levels of oxidative stress found in BD and SCZ.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 62, "end": 66}], "disease": [{"text": "BD", "start": 169, "end": 171}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "UCP2", "start": 62, "end": 66}, "tail": {"text": "BD", "start": 169, "end": 171}}]}}, "schema": []}
{"input": "Expression of the hypoxia-induced genes OPN, CA9, EPO, VEGF and HIF-1alpha was analyzed in three GBM cell lines, GaMG, U373 and U251, under in vitro hypoxia (1, 6 or 24h at 5%, 1% or 0. 1% O (2)) and in tumor samples from two patient groups with LGA and GBM (n = 15 each), at the mRNA level (semiquantitative RT-PCR).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 55, "end": 59}], "disease": [{"text": "hypoxia", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Expression of dAPP-BP1, a NEDD8 activation enzyme subunit, in Drosophila suppresses abnormalities induced by dPINK1 RNAi.", "output": {"entities": {"gene": [{"text": "BP1", "start": 19, "end": 22}], "disease": [{"text": "abnormalities", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The data support our hypothesis that the NPY system dysregulation constitutes one of the biological underpinnings of depression and that one common mechanism of action of antidepressive treatment modalities may be effects on NPY and its receptors.", "output": {"entities": {"gene": [{"text": "NPY", "start": 41, "end": 44}], "disease": [{"text": "depression", "start": 117, "end": 127}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NPY", "start": 41, "end": 44}, "tail": {"text": "depression", "start": 117, "end": 127}}]}}, "schema": []}
{"input": "Oral-facial-digital syndrome VI (OFD6 OMIM #277170), also called Varadi-Papp syndrome, is a ciliopathy inherited in an autosomal recessive pattern.", "output": {"entities": {"gene": [{"text": "OFD6", "start": 33, "end": 37}], "disease": [{"text": "Varadi-Papp syndrome", "start": 65, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OFD6", "start": 33, "end": 37}, "tail": {"text": "Varadi-Papp syndrome", "start": 65, "end": 85}}]}}, "schema": []}
{"input": "We used a case-control study design (234 carcinomas, 229 high-risk adenomas, 762 low-risk adenomas and 400 controls) to test the association between dietary factors (meat versus fruit, berries and vegetables) genetic polymorphisms in biotransformation genes (GSTM1, GSTT1, GSTP1 Ile105Val, EPHX1 Tyr113His and EPHX1 His139Arg), and risk of colorectal carcinomas and adenomas.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 259, "end": 264}], "disease": [{"text": "carcinomas", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The present work identifies apelin as a novel adipocyte endocrine secretion and focuses on its potential link with obesity-associated variations of insulin sensitivity status.", "output": {"entities": {"gene": [{"text": "apelin", "start": 28, "end": 34}], "disease": [{"text": "insulin sensitivity", "start": 148, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The novel hypoxic cytotoxin, TX-2098 has antitumor effect in pancreatic cancer; possible mechanism through inhibiting VEGF and hypoxia inducible factor-1α targeted gene expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 118, "end": 122}], "disease": [{"text": "hypoxic", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Although U0126, an ERK inhibitor, enhanced insulin sensitivity and attenuated oxidative stress-induced insulin resistance, LY294002, an inhibitor of phosphoinositide 3-kinase (PI3K), worsened the insulin resistance.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 176, "end": 180}], "disease": [{"text": "insulin resistance", "start": 103, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Reexpression of either of two of the silenced genes, HOXB13 and SYK, resulted in reduced colony formation in vitro and diminished tumor formation in vivo, indicating that these genes function as tumor suppressors in melanoma.", "output": {"entities": {"gene": [{"text": "SYK", "start": 64, "end": 67}], "disease": [{"text": "melanoma", "start": 216, "end": 224}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SYK", "start": 64, "end": 67}, "tail": {"text": "melanoma", "start": 216, "end": 224}}]}}, "schema": []}
{"input": "Here we compared PPARalpha knockout mice with wild type and confirmed that the former developed hypoglycemia during fasting.", "output": {"entities": {"gene": [{"text": "PPARalpha", "start": 17, "end": 26}], "disease": [{"text": "hypoglycemia", "start": 96, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPARalpha", "start": 17, "end": 26}, "tail": {"text": "hypoglycemia", "start": 96, "end": 108}}]}}, "schema": []}
{"input": "Our findings indicate that mutations in the ABCA1 gene are associated with TD as well as FHA.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 44, "end": 49}], "disease": [{"text": "TD", "start": 75, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA1", "start": 44, "end": 49}, "tail": {"text": "TD", "start": 75, "end": 77}}]}}, "schema": []}
{"input": "EBV (-) BL was characterized by high-level expression of amyloid beta precursor protein (APP), heat shock 27 kD protein 1 (HSPB1) and mothers against decapentaplegic homolog 1 (MADH1).", "output": {"entities": {"gene": [{"text": "HSPB1", "start": 123, "end": 128}], "disease": [{"text": "shock", "start": 100, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Therefore, SK1 inhibitors may offer therapeutic potential in promoting the removal of AR receptors from prostate cancer cells, resulting in an increased efficacy, which is likely to be superior to inhibitors that simply reversibly inhibit AR signalling.", "output": {"entities": {"gene": [{"text": "SK1", "start": 11, "end": 14}], "disease": [{"text": "prostate cancer", "start": 104, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Deranged expression and function of the E-cadherin/beta-catenin (E-cad/beta-cat) complex and the epidermal growth factor receptor (EGFR) have been implicated in the development and progression of carcinomas.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 51, "end": 63}], "disease": [{"text": "cad", "start": 42, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We identified one previously unknown missense variation in the hinge region (HinR) of the TSHR gene (p. S304R) in one patient with thyroid hypoplasia.", "output": {"entities": {"gene": [{"text": "TSHR", "start": 90, "end": 94}], "disease": [{"text": "thyroid hypoplasia", "start": 131, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSHR", "start": 90, "end": 94}, "tail": {"text": "thyroid hypoplasia", "start": 131, "end": 149}}]}}, "schema": []}
{"input": "Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.", "output": {"entities": {"gene": [{"text": "PCK1", "start": 17, "end": 21}], "disease": [{"text": "phosphoenolpyruvate carboxykinase deficiency", "start": 49, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCK1", "start": 17, "end": 21}, "tail": {"text": "phosphoenolpyruvate carboxykinase deficiency", "start": 49, "end": 93}}]}}, "schema": []}
{"input": "Here, we describe a French family with a parkinsonian-pyramidal syndrome harboring a novel heterozygous SNCA mutation.", "output": {"entities": {"gene": [{"text": "SNCA", "start": 104, "end": 108}], "disease": [{"text": "parkinsonian-pyramidal syndrome", "start": 41, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SNCA", "start": 104, "end": 108}, "tail": {"text": "parkinsonian-pyramidal syndrome", "start": 41, "end": 72}}]}}, "schema": []}
{"input": "As IL-6 and PAI-1 secretion was also lowered in lapachol-treated hypertrophic scar fibroblasts, our findings suggested that lapachol may have suppressed extracellular matrix hyperplasia in wound healing and possibly alleviated the formation of hypertrophic scar.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 3, "end": 7}], "disease": [{"text": "hyperplasia", "start": 174, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In the presence of hypoxia, the E. coli PNP gene directed by the [HRE] AF promoter were HCC-specifically expressed in two human HCC cell lines and, moreover, the [HRE] AF-PNP/MeP-dR therapy would yield significant and selective cytotoxicity in both AFP-positive and low-AFP-generating HCC cells.", "output": {"entities": {"gene": [{"text": "AFP", "start": 249, "end": 252}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "GAD and blood-injury phobia are both significantly associated with suicidal attempt with opposite effects.", "output": {"entities": {"gene": [{"text": "GAD", "start": 0, "end": 3}], "disease": [{"text": "suicidal", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the effects of caffeine on HIF-1 protein accumulation and on VEGF and IL-8 expression in the human colon cancer cell line HT29 under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 92, "end": 96}], "disease": [{"text": "hypoxic", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "DISCUSSION: Three members of the EGF family are dysregulated in placentas with preeclampsia, whereas p110/EGFR, a potential EGF receptor antagonist, is overexpressed.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 106, "end": 110}], "disease": [{"text": "preeclampsia", "start": 79, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Mutations in other regulatory genes such as HESX1, PROP1, PIT1/POU1F1, and GLI2 have been shown to be additional causes of pituitary hormone deficiency, but overall, the etiology of many cases of hypopituitarism is not understood.", "output": {"entities": {"gene": [{"text": "PROP1", "start": 51, "end": 56}], "disease": [{"text": "pituitary hormone deficiency", "start": 123, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Over the past 5 years, several gain-of-function missense mutations in the human cationic trypsinogen gene (PRSS1, OMIM 276000) have been associated with hereditary and/or sporadic pancreatitis.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 107, "end": 112}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Non-invasive MCF-7 breast adenocarcinoma cells were transfected with YB-1/EGFP.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 69, "end": 73}], "disease": [{"text": "breast adenocarcinoma", "start": 19, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The different percentages of severe and mild CYP21A2 gene mutations found in PP children compared with adult NCCAH patients is an indirect evidence that the enzyme defect is under-diagnosed in childhood, and it might not lead to the development of hyperandrogenic symptoms in adulthood.", "output": {"entities": {"gene": [{"text": "CYP21A2 gene", "start": 45, "end": 57}], "disease": [{"text": "mild", "start": 40, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the majority of DFSP harbor the COL1A1/PDGFB translocation and FISH technique should be recommended as a routine diagnostic tool, especially in cases showing unusual histopathological subtypes and/or immunohistochemical features.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 47, "end": 53}], "disease": [{"text": "translocation", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Because photoimmune suppression is a risk factor for skin cancer development, we hypothesize that Er-beta deficiency will promote skin tumour growth.", "output": {"entities": {"gene": [{"text": "Er-beta", "start": 98, "end": 105}], "disease": [{"text": "skin cancer", "start": 53, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "To determine whether miR-19a plays a role in laryngeal squamous cell carcinoma (LSCC), we used quantitative real time PCR to detect miR-19a expression in LSCC tissues.", "output": {"entities": {"gene": [{"text": "19a", "start": 25, "end": 28}], "disease": [{"text": "laryngeal squamous cell carcinoma", "start": 45, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We performed a study of eleven variants in/near genes TMEM18, SH2B1, KCTD15, PCSK1, BDNF, SEC16B, MC4R, and FTO in Czech adolescents and analysed their association with obesity, metabolic syndrome and related traits.", "output": {"entities": {"gene": [{"text": "SEC16B", "start": 90, "end": 96}], "disease": [{"text": "metabolic syndrome", "start": 178, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We performed a clinical study on 29 Dutch MPS IIIC patients and determined causative mutations in the recently identified HGSNAT gene.", "output": {"entities": {"gene": [{"text": "HGSNAT", "start": 122, "end": 128}], "disease": [{"text": "MPS IIIC", "start": 42, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGSNAT", "start": 122, "end": 128}, "tail": {"text": "MPS IIIC", "start": 42, "end": 50}}]}}, "schema": []}
{"input": "In this study, we investigated the mechanisms participating in JNK phosphorylation in the context of a refractory cancer disease, malignant mesothelioma (MM).", "output": {"entities": {"gene": [{"text": "JNK", "start": 63, "end": 66}], "disease": [{"text": "refractory cancer", "start": 103, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.", "output": {"entities": {"gene": [{"text": "PARP-1", "start": 20, "end": 26}], "disease": [{"text": "kyphosis", "start": 200, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP-1", "start": 20, "end": 26}, "tail": {"text": "kyphosis", "start": 200, "end": 208}}]}}, "schema": []}
{"input": "Inactivation of the PI3K/AKT pathway rescued DRAM translocation to mitochondria; subsequently, mitochondrial DRAM induced apoptosis in HCC cells by mediating mitophagy.", "output": {"entities": {"gene": [{"text": "AKT", "start": 25, "end": 28}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Host cell reactivation (HCR) of beta-gal activity for UV-irradiated Ad5HCMVlacZ was examined in non-irradiated and UV-irradiated nucleotide excision repair (NER) proficient normal human fibroblasts, xeroderma pigmentosum (XP) group C fibroblasts which are defective in the global genomic repair (GGR) pathway of NER and Cockayne syndrome (CS) fibroblasts which are defective in the transcription coupled repair (TCR) pathway of NER.", "output": {"entities": {"gene": [{"text": "HCR", "start": 24, "end": 27}], "disease": [{"text": "xeroderma pigmentosum", "start": 199, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "In addition, a statistically significant difference was observed between MCP-1-2518 A/G polymorphism and waist to hip ratio.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 73, "end": 78}], "disease": [{"text": "waist to hip ratio", "start": 105, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "By RT-PCR, AFP and PSA mRNA were detected in several tumors, including salivary pleomorphic adenoma, hilar bile duct carcinoma, pancreatic carcinoma, transitional cell carcinoma of urinary bladder and thyroid papillary carcinoma.", "output": {"entities": {"gene": [{"text": "AFP", "start": 11, "end": 14}], "disease": [{"text": "transitional cell carcinoma of urinary bladder", "start": 150, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Notably, several germline mutations were found matching between paired FNMTC patients from the same family, including APC L292F and A2778S, BRAF D22N, MSH6 G355S and A36V, MSH2 L719F, MEN1 G508D, BRCA1 SS955S, BRCA2 G2508S, and a GNAS inframe insertion.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 184, "end": 188}], "disease": [{"text": "FNMTC", "start": 71, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MEN1", "start": 184, "end": 188}, "tail": {"text": "FNMTC", "start": 71, "end": 76}}]}}, "schema": []}
{"input": "A second causative gene for a subset of ALS is fused in sarcoma, an RNA binding protein that also forms cytoplasmic inclusions in spinal cord motor neurons.", "output": {"entities": {"gene": [{"text": "RNA binding protein", "start": 68, "end": 87}], "disease": [{"text": "sarcoma", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "To identify Gcm2 transcripts in human non-neural tissues and to examine whether Gcm2 is involved in parathyroid gland tumorigenesis we analysed Gcm2 transcript levels in several non-neural tissues by reverse transcriptase polymerase chain reaction (RT-PCR) and performed real-time quantitative RT-PCR analysis on five normal glands, 15 parathyroid adenomas of primary hyperparathyroidism (HPT) and nine hyperplastic glands of secondary HPT.", "output": {"entities": {"gene": [{"text": "HPT", "start": 389, "end": 392}], "disease": [{"text": "tumorigenesis", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we found that knockdown of Epha4 also rescues the axonopathy induced by expression of mutant TAR DNA-binding protein 43 (TDP-43), another protein causing familial ALS, and the axonopathy induced by knockdown of survival of motor neuron 1, a model for spinomuscular atrophy.", "output": {"entities": {"gene": [{"text": "Epha4", "start": 40, "end": 45}], "disease": [{"text": "atrophy", "start": 278, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Tissue-specific deletion of platelet beta3-integrins in beta3KOP mice did not affect bone mass but resulted in a severe bleeding phenotype.", "output": {"entities": {"gene": [{"text": "beta3", "start": 37, "end": 42}], "disease": [{"text": "bone mass", "start": 85, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "HDC and v-MAT2 immunoreactivities (IR) have recently been detected in well-differentiated neuroendocrine tumors (WDNETs) and poorly differentiated neuroendocrine carcinomas (PDNECs) of various sites and have been proposed as general endocrine markers.", "output": {"entities": {"gene": [{"text": "HDC", "start": 0, "end": 3}], "disease": [{"text": "neuroendocrine tumors", "start": 90, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Diagnostic utility of thymic epithelial markers CD205 (DEC205) and Foxn1 in thymic epithelial neoplasms.", "output": {"entities": {"gene": [{"text": "DEC205", "start": 55, "end": 61}], "disease": [{"text": "epithelial neoplasms", "start": 83, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.", "output": {"entities": {"gene": [{"text": "CLDN10", "start": 40, "end": 46}], "disease": [{"text": "HELIX syndrome", "start": 61, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLDN10", "start": 40, "end": 46}, "tail": {"text": "HELIX syndrome", "start": 61, "end": 75}}]}}, "schema": []}
{"input": "Areas of increased FAF in patients with late ARM (choroidal neovascularization or geographic atrophy) showed normal or only mildly abnormal photopic, but severely reduced scotopic, sensitivity.", "output": {"entities": {"gene": [{"text": "FAF", "start": 19, "end": 22}], "disease": [{"text": "geographic atrophy", "start": 82, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "B1a lymphocytes (CD5 +) are the major contributors of natural antibodies (Ab) implicated in the initial protection against several infections.", "output": {"entities": {"gene": [{"text": "CD5", "start": 17, "end": 20}], "disease": [{"text": "infections", "start": 131, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "In this study we report analysis of the CYP11B1 genes of three patients thought to suffer from non-classic 11 beta-hydroxylase deficiency.", "output": {"entities": {"gene": [{"text": "CYP11B1", "start": 40, "end": 47}], "disease": [{"text": "11 beta-hydroxylase deficiency", "start": 107, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP11B1", "start": 40, "end": 47}, "tail": {"text": "11 beta-hydroxylase deficiency", "start": 107, "end": 137}}]}}, "schema": []}
{"input": "Finally, in puromycin aminonucleoside-induced rat nephrosis, an apparent reduction in the levels of Gal-1 and nephrin around the onset of heavy proteinuria was also revealed.", "output": {"entities": {"gene": [{"text": "nephrin", "start": 110, "end": 117}], "disease": [{"text": "heavy proteinuria", "start": 138, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In patients with a mild form of the disease and no detectable mutation CYP21 gene polymorphisms should be considered as a plausible disease-causing mutation.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 71, "end": 76}], "disease": [{"text": "mild", "start": 19, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "RKIP miRNA silencing and its inducible overexpression were employed in HEK-293 immortalized cells, HT29 and HCT116 colon cancer cell lines to further investigate our aim.", "output": {"entities": {"gene": [{"text": "RKIP", "start": 0, "end": 4}], "disease": [{"text": "colon cancer", "start": 115, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Moyamoya disease (MMD) is a rare cerebrovascular disorder involving stenosis of the major vessels of the circle of Willis and proximal portions of its principal branches.", "output": {"entities": {"gene": [{"text": "MMD", "start": 18, "end": 21}], "disease": [{"text": "cerebrovascular disorder", "start": 33, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "RER + gastric carcinomas therefore share several important features with RER + colonic tumours, including less frequent nodal invasion, improved prognosis, a similar frequency of mutation in growth control genes containing repetitive nucleotide sequences, and a low frequency of mutation of the p53 tumour suppressor gene.", "output": {"entities": {"gene": [{"text": "RER", "start": 0, "end": 3}], "disease": [{"text": "carcinomas", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The subset of CD4 (+) CD28 (null) T cells was expanded in patients with UA and infrequent in patients with stable angina (median frequencies: 10. 8% versus 1. 5%, P < 0. 001).", "output": {"entities": {"gene": [{"text": "CD4", "start": 14, "end": 17}], "disease": [{"text": "stable angina", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The PCR array revealed down-regulation of the migration inhibitor CD26/DPPIV and up-regulation of angiogenic factors (vascular endothelial growth factor A, C-X-C motif Ligand 6; CXCL6) in endometriotic ESCs under hypoxia.", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor A", "start": 118, "end": 154}], "disease": [{"text": "hypoxia", "start": 213, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that a mutation in VIM causes a dominant, pulverulent cataract.", "output": {"entities": {"gene": [{"text": "VIM", "start": 40, "end": 43}], "disease": [{"text": "pulverulent cataract", "start": 63, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VIM", "start": 40, "end": 43}, "tail": {"text": "pulverulent cataract", "start": 63, "end": 83}}]}}, "schema": []}
{"input": "All RER positive carcinomas were identified by the immunohistochemical test.", "output": {"entities": {"gene": [{"text": "RER", "start": 4, "end": 7}], "disease": [{"text": "carcinomas", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We present a patient with a clinical and molecular diagnosis of ODD and lower limb lymphoedema.", "output": {"entities": {"gene": [{"text": "ODD", "start": 64, "end": 67}], "disease": [{"text": "lymphoedema", "start": 83, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Based on the absence of identifiable DNA sequence alterations in these forms of parathyroid dysfunction, it is unlikely that mutation of the PTH 3'-UTR contributes frequently to their pathogenesis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 148, "end": 151}], "disease": [{"text": "parathyroid dysfunction", "start": 80, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP.", "output": {"entities": {"gene": [{"text": "IGFBP-3", "start": 104, "end": 111}], "disease": [{"text": "autism", "start": 14, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGFBP-3", "start": 104, "end": 111}, "tail": {"text": "autism", "start": 14, "end": 20}}]}}, "schema": []}
{"input": "Results suggest that co-expression of the 2 beta3 integrins, alphavbeta3 and alphaIIbbeta3, in human melanoma cells enhanced cell survival and promoted growth in vivo.", "output": {"entities": {"gene": [{"text": "beta3", "start": 44, "end": 49}], "disease": [{"text": "melanoma", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Control of plasma viraemia could be predicted from carriage of allele 2 at position-889 in the IL1A gene (IL1A-889 * 2).", "output": {"entities": {"gene": [{"text": "IL1A", "start": 95, "end": 99}], "disease": [{"text": "viraemia", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Both asthma and COPD are associated with elevated bronchial mucosal expression of TSLP and the same Th1-and Th2-attracting chemokines.", "output": {"entities": {"gene": [{"text": "Th1", "start": 100, "end": 103}], "disease": [{"text": "asthma", "start": 5, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "The patients also exhibit alterations in GH and PTH-calcium function, and 1 of them has decreased bone mineral density.", "output": {"entities": {"gene": [{"text": "PTH", "start": 48, "end": 51}], "disease": [{"text": "bone mineral density", "start": 98, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Among low-to-moderate drinkers, a smoking-dependent carcinogenetic effect for the ADH1B * 1/* 1 and ALDH2 * 1/* 2 + * 2/* 2 genotypes was recognized, with significant risks found in smokers, but not in nonsmokers.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 100, "end": 105}], "disease": [{"text": "smoking", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "This study analysed mRNA expression of two members of the methyl-CpG-binding protein family-MeCP2 and MBD2-in human non-neoplastic (n = 11) and neoplastic (n = 57) breast tissue specimens using a quantitative real-time PCR method.", "output": {"entities": {"gene": [{"text": "CpG-binding protein", "start": 65, "end": 84}], "disease": [{"text": "non-neoplastic", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In the process, we demonstrated that within complex and dynamic communities, the Streptococcus milleri group (SMG) can establish chronic pulmonary infections and at the onset of 39% of acute pulmonary exacerbations, SMG is the numerically dominant pathogen.", "output": {"entities": {"gene": [{"text": "SMG", "start": 110, "end": 113}], "disease": [{"text": "pulmonary infections", "start": 137, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "To investigate the independent and combined effects of the Trp64Arg polymorphism of the beta3-adrenergic receptor (beta3AR) gene and the (-3826) A--> G polymorphism of the uncoupling protein 1 (UCP1) gene on body weight change in type 2 diabetic and non-diabetic control subjects during a 10y follow-up study.", "output": {"entities": {"gene": [{"text": "beta3", "start": 88, "end": 93}], "disease": [{"text": "body weight change", "start": 208, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "DNA mismatch repair (MMR) protein analysis by immunohistochemistry (IHC) can identify colorectal cancer (CRC) with microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 21, "end": 24}], "disease": [{"text": "microsatellite instability", "start": 115, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that ischemia-reperfusion induces differential changes in PLC isozymes.", "output": {"entities": {"gene": [{"text": "PLC", "start": 79, "end": 82}], "disease": [{"text": "ischemia", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Infection of Ad-HSP20, but not control adenovirus (Ad-GFP), reduced viability, and induced massive apoptosis in a time-dependent manner.", "output": {"entities": {"gene": [{"text": "HSP20", "start": 16, "end": 21}], "disease": [{"text": "adenovirus", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Of note, a hereditary lymphoedema-linked mutant of VEGFR-3 was not phosphorylated by H (2) O (2) treatment.", "output": {"entities": {"gene": [{"text": "VEGFR-3", "start": 51, "end": 58}], "disease": [{"text": "hereditary lymphoedema", "start": 11, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VEGFR-3", "start": 51, "end": 58}, "tail": {"text": "hereditary lymphoedema", "start": 11, "end": 33}}]}}, "schema": []}
{"input": "In conclusion, the TGF-& #946; and LPS-induced miR-942 mediates HSC activation through downregulation of BAMBI in human liver fibrosis.", "output": {"entities": {"gene": [{"text": "BAMBI", "start": 105, "end": 110}], "disease": [{"text": "liver fibrosis", "start": 120, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAMBI", "start": 105, "end": 110}, "tail": {"text": "liver fibrosis", "start": 120, "end": 134}}]}}, "schema": []}
{"input": "We report that autoimmune regulator (Aire), a transcriptional regulator, is inducibly expressed in human and mouse tumor keratinocytes in a K17-dependent manner and is required for timely onset of Gli2-induced skin tumorigenesis in mice.", "output": {"entities": {"gene": [{"text": "Gli2", "start": 197, "end": 201}], "disease": [{"text": "tumorigenesis", "start": 215, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Using multiple linear regression analysis, an equation was developed (adjusted R² = 0. 73; p < 0. 0001) that included positive [preoperative LVM, microRNA-133a, serum response factor (SRF, which is known to be a transactivator of miR-133) and age] and negative [body mass index (BMI), Wolf-Hirschhorn syndrome candidate-2 (WHSC2, which is a target for repression by miR-133a), β-myosin heavy chain, myosin light chain-2, diabetes mellitus, and male gender] independent predictors of LVM reduction.", "output": {"entities": {"gene": [{"text": "WHSC2", "start": 323, "end": 328}], "disease": [{"text": "diabetes mellitus", "start": 421, "end": 438}]}, "relations": {}}, "schema": []}
{"input": "Thus, mutations in the WAF1 gene are rare in tumors with or without p53 mutations, suggesting that except in a minor population of breast cancer patients of Caucasian origin, cell cycle dysregulation by mutated p53 or WAF1 genes may not contribute to breast tumor initiation or progression.", "output": {"entities": {"gene": [{"text": "WAF1", "start": 23, "end": 27}], "disease": [{"text": "tumor initiation", "start": 258, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "We previously reported a positive association among body mass index, single nucleotide polymorphisms (SNP) in the leptin and leptin receptor genes that are involved in body weight regulation, and non-Hodgkin lymphoma (NHL).", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 125, "end": 140}], "disease": [{"text": "body weight", "start": 168, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We tested risk associations in patients with sporadic NET and non-cancer controls, using a custom array containing 1536 single-nucleotide polymorphisms (SNPs) in 355 candidate genes.", "output": {"entities": {"gene": [{"text": "NET", "start": 54, "end": 57}], "disease": [{"text": "sporadic", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that a-232C > G promoter polymorphism within a cis-acting element required for basal and cAMP-mediated PCK1 gene transcription results in loss of negative regulation by insulin, contributing to worsened metabolic control in the context of insulin resistance.", "output": {"entities": {"gene": [{"text": "PCK1 gene", "start": 124, "end": 133}], "disease": [{"text": "insulin resistance", "start": 260, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "We identified strong associations to individual disorders, such as growth hormone releasing hormone (GHRH) with anxiety disorders, prolactin regulatory element (PREB) with eating disorders, ionotropic kainate glutamate receptor 5 (GRIK5) with bipolar disorder and several SNPs associated to several disorders, that may represent individual and related disease susceptibility factors.", "output": {"entities": {"gene": [{"text": "glutamate receptor 5", "start": 209, "end": 229}], "disease": [{"text": "bipolar disorder", "start": 243, "end": 259}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glutamate receptor 5", "start": 209, "end": 229}, "tail": {"text": "bipolar disorder", "start": 243, "end": 259}}]}}, "schema": []}
{"input": "Further evidence of HO-1 expression associated with atherogenesis has been demonstrated in human, murine and rabbit atherosclerotic lesions.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 20, "end": 24}], "disease": [{"text": "atherogenesis", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "These changes were accompanied by reduced hypoxia in the tumor core and reduced expression of the angiogenic factor VEGF-A.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 116, "end": 122}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In the pedigree analysis, defects in insulin binding were also observed in the mother, maternal grandfather and two maternal aunts, corresponding with the abnormality of the insulin receptor gene and mild insulin resistance.", "output": {"entities": {"gene": [{"text": "insulin receptor gene", "start": 174, "end": 195}], "disease": [{"text": "mild", "start": 200, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "BNIP3 (Bcl-2/adenovirus E1B Nineteen Kilodalton Interacting Protein) is a pro-cell death member of the Bcl-2 family of proteins.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 0, "end": 5}], "disease": [{"text": "adenovirus", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Active sarcoidosis is considered to be a Th1 dominant condition.", "output": {"entities": {"gene": [{"text": "Th1", "start": 41, "end": 44}], "disease": [{"text": "sarcoidosis", "start": 7, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The novel HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer.", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 10, "end": 16}], "disease": [{"text": "hereditary prostate cancer", "start": 83, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXB13", "start": 10, "end": 16}, "tail": {"text": "hereditary prostate cancer", "start": 83, "end": 109}}]}}, "schema": []}
{"input": "The amount of secreted VEGF was also elevated in hypoxic cultures.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 23, "end": 27}], "disease": [{"text": "hypoxic", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Sensitivity of MRI versus conventional screening in the diagnosis of BRCA-associated breast cancer in a national prospective series.", "output": {"entities": {"gene": [{"text": "MRI", "start": 15, "end": 18}], "disease": [{"text": "breast cancer", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Thus, PKCι and SOX2 are genetically, biochemically, and functionally linked in LSCC, and together they drive tumorigenesis by establishing a cell-autonomous Hh signaling axis.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 15, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Recently, mutations in the Fused in sarcoma gene (FUS) were identified in familial (FALS) ALS cases and sporadic (SALS) patients.", "output": {"entities": {"gene": [{"text": "FUS", "start": 50, "end": 53}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The interstitial expression of these mRNA forms was similar in IgA nephropathy, non-IGA mesangial proliferative glomerulonephritis, and lupus nephritis and correlated positively with the degree of tubulo-interstitial changes.", "output": {"entities": {"gene": [{"text": "IGA", "start": 84, "end": 87}], "disease": [{"text": "lupus nephritis", "start": 136, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.", "output": {"entities": {"gene": [{"text": "TIMM8A", "start": 64, "end": 70}], "disease": [{"text": "chromosome deletion", "start": 13, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Concurrent analysis of inhibitory receptors (KIR2DL1, KIR2DL2/3, KIR3DL1 and NKG2A) and NK cell degranulation upon co-culture with myeloma cells revealed that KIR-ligand-mismatched NK cells degranulate more than matched subsets and that HLA-E abrogates degranulation of NKG2A + subsets.", "output": {"entities": {"gene": [{"text": "KIR2DL1", "start": 45, "end": 52}], "disease": [{"text": "myeloma", "start": 131, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that massive albuminuria causes tubular damage and lipid accumulation with the reduction of MCAD, CYP4A, PGC-1α, and ERRα in PTECs.", "output": {"entities": {"gene": [{"text": "PGC-1α", "start": 128, "end": 134}], "disease": [{"text": "albuminuria", "start": 36, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "No translocation including immunoglobulin genes was identified by spectral karyotyping (SKY) analysis.", "output": {"entities": {"gene": [{"text": "SKY", "start": 88, "end": 91}], "disease": [{"text": "translocation", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Cross-sectional studies disclosed a marked increase of miR-140-5p, miR-142-3p, and miR-222 and decreased miR-423-5p, miR-125b, miR-192, miR-195, miR-130b, miR-532-5p, and miR-126 in T2D patients.", "output": {"entities": {"gene": [{"text": "miR-222", "start": 83, "end": 90}], "disease": [{"text": "T2D", "start": 182, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-222", "start": 83, "end": 90}, "tail": {"text": "T2D", "start": 182, "end": 185}}]}}, "schema": []}
{"input": "Expression of anti-inflammatory protein HO-1, MT, TGF-β and IL-6 were increased after hypoxic preconditioning.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 50, "end": 55}], "disease": [{"text": "hypoxic", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The following factors were significantly associated with a lack of SVR: donor age > or = 50 years (P =. 046); donor body mass index (BMI) > 27 (P =. 016); genotype 1 versus 2 to 3 (P = 0. 010), aspartate transferase (AST) before therapy > or = 140 U/L (P =. 046), alanine transferase before therapy > or = 280 U/L (P =. 055), use of natural IFN versus pegylated IFN (P =. 016).", "output": {"entities": {"gene": [{"text": "AST", "start": 217, "end": 220}], "disease": [{"text": "body mass index", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of DEPP prevented the primary and secondary ROS wave during FOXO3 activation and attenuated FOXO3-and H2O2-induced apoptosis.", "output": {"entities": {"gene": [{"text": "DEPP", "start": 13, "end": 17}], "disease": [{"text": "secondary", "start": 44, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Sanger sequencing of the coding exons and splice junctions of the ASB10 gene was performed in 30 probands of multiplex POAG families, 208 sporadic POAG patients and 151 healthy controls from Pakistan.", "output": {"entities": {"gene": [{"text": "ASB10 gene", "start": 66, "end": 76}], "disease": [{"text": "sporadic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The nuclear transactive response DNA-binding protein 43 (TDP-43) undergoes relocalization to the cytoplasm with formation of cytoplasmic deposits in neurons in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD).", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 33, "end": 52}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 160, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "The MZ B cells and IEBCs showed a high-proliferation fraction and a CD20 (+), CD21 (+), CD27 (-), immunoglobulin (Ig) superfamily receptor translocation-associated 1-positive (IRTA-1 (+)), CD43 (+), multiple myeloma oncogene 1 (MUM-1), IgM (+) D (+) phenotype.", "output": {"entities": {"gene": [{"text": "MUM-1", "start": 228, "end": 233}], "disease": [{"text": "translocation", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "STRAD in Peutz-Jeghers syndrome and sporadic cancers.", "output": {"entities": {"gene": [{"text": "STRAD", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "To examine the severity of acute experimental pancreatitis in transgenic mice expressing human PLA2 compared with mice not expressing PLA2.", "output": {"entities": {"gene": [{"text": "PLA2", "start": 95, "end": 99}], "disease": [{"text": "pancreatitis", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Abnormal expression and genetic polymorphism of SLC6A3 and SLC6A4 genes may increase the risk of developing mental illness, such as schizophrenia, bipolar disorder, ADHD, and aggressive behavior in Alzheimer disease, etc.", "output": {"entities": {"gene": [{"text": "SLC6A4", "start": 59, "end": 65}], "disease": [{"text": "aggressive behavior", "start": 175, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "These findings establish a novel loss of function mutation in HFM residing in an intracellular loop of PCFT crucial for folate transport.", "output": {"entities": {"gene": [{"text": "PCFT", "start": 103, "end": 107}], "disease": [{"text": "HFM", "start": 62, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCFT", "start": 103, "end": 107}, "tail": {"text": "HFM", "start": 62, "end": 65}}]}}, "schema": []}
{"input": "Mitochondrial enzyme activities (citrate synthase and succinate dehydrogenase) were maintained during hypertrophy and decreased by ≈ 40% (P < 0. 05 versus control) at the stage of failure.", "output": {"entities": {"gene": [{"text": "citrate synthase", "start": 33, "end": 49}], "disease": [{"text": "hypertrophy", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that Huh7. 5 cells either infected with HCV or ectopically expressing HCV NS5A alone have the potential to induce insulin resistance by the phosphorylation of IRS-1 at serine residue (Ser (307)) followed by decreased phosphorylation of Akt Thr (308), Fox01 Ser (256) and GSK3β Ser (9), the downstream players of the insulin signaling pathway.", "output": {"entities": {"gene": [{"text": "Huh7", "start": 27, "end": 31}], "disease": [{"text": "insulin resistance", "start": 136, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED.", "output": {"entities": {"gene": [{"text": "SLC4A11", "start": 45, "end": 52}], "disease": [{"text": "CHED", "start": 99, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC4A11", "start": 45, "end": 52}, "tail": {"text": "CHED", "start": 99, "end": 103}}]}}, "schema": []}
{"input": "However, multivariate Cox regression with the influential parameters revealed a significant effect of c-kit expression on survival.", "output": {"entities": {"gene": [{"text": "c-kit", "start": 102, "end": 107}], "disease": [{"text": "regression", "start": 26, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Subjects with urinary tract infections, hyperparathyroidism, cystinuria > 70 micromol/24 h, gouty diathesis, renal tubular acidosis, renal failure, chronic diarrhoeal states, intake of thiazide diuretics, angiotensin-converting enzyme (ACE)-inhibitors, glucocorticoids or oestrogens were excluded.", "output": {"entities": {"gene": [{"text": "ACE", "start": 236, "end": 239}], "disease": [{"text": "cystinuria", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Silencing Drp1 or overexpression of Mfn1 resulted in mitochondria elongation or clusters, respectively, and significantly suppressed metastatic abilities of breast cancer cells.", "output": {"entities": {"gene": [{"text": "Mfn1", "start": 36, "end": 40}], "disease": [{"text": "breast cancer", "start": 157, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Here we illustrate how such data sets can expedite disease-gene discovery, by using them to identify the gene causing Leigh syndrome, French-Canadian type (LSFC, Online Mendelian Inheritance in Man no.", "output": {"entities": {"gene": [{"text": "LSFC", "start": 156, "end": 160}], "disease": [{"text": "Leigh syndrome, French-Canadian type", "start": 118, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LSFC", "start": 156, "end": 160}, "tail": {"text": "Leigh syndrome, French-Canadian type", "start": 118, "end": 154}}]}}, "schema": []}
{"input": "Over 90% of SS cases are characterized by the t (X; 18) (p11. 2; q11. 2) translocation, which results mainly in the formation of oncogenic SS18-SSX1 or SS18-SSX2 fusions.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 157, "end": 161}], "disease": [{"text": "translocation", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated the genetic status of 32 glioblastomas by comparative genomic hybridization; the sensitivity of comparative genomic hybridization versus differential polymerase chain reaction to detect deletions at the phosphatase and tensin homologue deleted in chromosome 10, deleted in malignant brain tumors-1, and cyclin-dependent kinase inhibitor 2A loci and amplifications at the cyclin-dependent kinase 4 locus; the frequency of genetic lesions (gain or loss) at 16 different selected loci (including oncogenes, tumor-suppressor genes, and proliferation markers) mapping on 13 different chromosomes; and the possible existence of a statistical association between any pair of molecular markers studied, to subdivide the glioblastoma entity molecularly.", "output": {"entities": {"gene": [{"text": "tensin", "start": 247, "end": 253}], "disease": [{"text": "glioblastoma", "start": 53, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "These findings implicate somatic genetic defects of Cx43 as a potential cause of AF and support the paradigm that sporadic, nonfamilial cases of lone AF may arise from genetic mosaicism that creates heterogeneous coupling patterns, predisposing the tissue to reentrant arrhythmias.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 52, "end": 56}], "disease": [{"text": "sporadic", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Aberrations of chromosome 13q in gastrointestinal stromal tumors: analysis of 91 cases by fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 126, "end": 130}], "disease": [{"text": "gastrointestinal stromal tumors", "start": 33, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate that DNA methylation and histone methylation analysis of the ICR within the DMR of IGF2/H19 provides important insights into early steps of carcinogenesis and, therefore, may contribute to improving diagnosis of PCa.", "output": {"entities": {"gene": [{"text": "DMR", "start": 97, "end": 100}], "disease": [{"text": "carcinogenesis", "start": 161, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Our study indicated that the smoking dose predicted EGFR mutations with a moderate diagnostic accuracy.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 52, "end": 56}], "disease": [{"text": "smoking", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Following silencing of CSN5, resistance to sorafenib was reversed, and multi-drug‑resistance proteins, including as adenosine triphosphate binding cassette (ABC) B1, ABCC2 and ABCG2 as well as CDK6, cyclin D1 and B‑cell lymphoma 2 were downregulated.", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 176, "end": 181}], "disease": [{"text": "lymphoma", "start": 220, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "IL-17F: regulation, signaling and function in inflammation.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 0, "end": 6}], "disease": [{"text": "inflammation", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin.", "output": {"entities": {"gene": [{"text": "AFF4", "start": 176, "end": 180}], "disease": [{"text": "CHOPS syndrome", "start": 55, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AFF4", "start": 176, "end": 180}, "tail": {"text": "CHOPS syndrome", "start": 55, "end": 69}}]}}, "schema": []}
{"input": "Knockdown of MTDH expression in HCC cell lines resulted in downregulation of N-cadherin and snail, upregulation of E-cadherin, and translocation of β-catenin.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 115, "end": 125}], "disease": [{"text": "translocation", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The ability of FN to induce EMT shows an active role for the stromal ECM in this process and supports the notion that the increased levels of FN observed in breast tumors facilitate tumorigenesis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 69, "end": 72}], "disease": [{"text": "tumorigenesis", "start": 182, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "The translocation results in a fusion of two known genes, ETV6/TEL (12p13) and AML1 (21q22), previously shown to be involved in the pathogenesis of myeloid disorders.", "output": {"entities": {"gene": [{"text": "AML1", "start": 79, "end": 83}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "When CRC is diagnosed, the surgeon is in the ideal position to order appropriate tumor testing for microsatellite instability or immunohistochemical stains for loss of MMR gene associated protein, if this has not already been done.", "output": {"entities": {"gene": [{"text": "MMR", "start": 168, "end": 171}], "disease": [{"text": "microsatellite instability", "start": 99, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Quercetin was found to be effective against Cd-induced dysexpression of RST and OAT1 with XOR hyperactivity and impairment of AMPK-PPARα/PGC-1β signal pathway, resulting in renal lipid accumulation reduction of rats.", "output": {"entities": {"gene": [{"text": "RST", "start": 72, "end": 75}], "disease": [{"text": "hyperactivity", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Group 2 (3 patients) mild neurologic symptoms that did not prevent independent lives, HPRT activity was detectable in intact erythrocytes, and the protein size was normal.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 86, "end": 90}], "disease": [{"text": "mild", "start": 21, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Compared with NTg HF, Tg-IκBα (S32A, S36A) HF mice exhibited: (i) improved survival, chamber remodelling, systolic function, and pulmonary congestion, (ii) markedly diminished NF-κB p65 activation, cytokine expression, and fibrosis, and (iii) a three-fold reduction in apoptosis.", "output": {"entities": {"gene": [{"text": "IκBα", "start": 25, "end": 29}], "disease": [{"text": "fibrosis", "start": 223, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that PBMC p11 mRNA expression levels may serve as a potential biomarker to distinguish PTSD from BP, MDD and SCZ.", "output": {"entities": {"gene": [{"text": "p11", "start": 31, "end": 34}], "disease": [{"text": "BP", "start": 118, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p11", "start": 31, "end": 34}, "tail": {"text": "BP", "start": 118, "end": 120}}]}}, "schema": []}
{"input": "Immunofluorescence analysis of tumor sections revealed areas of HIF-1alpha nuclear expression, suggesting areas of hypoxia, in both control tumors and VEGF-suppressed tumors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 151, "end": 155}], "disease": [{"text": "hypoxia", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Although HSF1 has been identified as a driver of carcinogenesis, HSF2 has not been explored in malignancies.", "output": {"entities": {"gene": [{"text": "HSF2", "start": 65, "end": 69}], "disease": [{"text": "carcinogenesis", "start": 49, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have characterized fatty acid transport protein (fatp) mutants in Drosophila and C. elegans, establishing new models of cardiomyopathy, retinal degeneration, fat storage disease and dermopathies.", "output": {"entities": {"gene": [{"text": "fatp", "start": 64, "end": 68}], "disease": [{"text": "retinal degeneration", "start": 151, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Several previously unidentified disease marker genes and drug targets, such as SBNO2 (schizophrenia), SEC24C (bipolar disorder), and SRRT (major depression), were identified based on statistical and topological analyses of the PPI network.", "output": {"entities": {"gene": [{"text": "SRRT", "start": 133, "end": 137}], "disease": [{"text": "major depression", "start": 139, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRRT", "start": 133, "end": 137}, "tail": {"text": "major depression", "start": 139, "end": 155}}]}}, "schema": []}
{"input": "Increased trisomy and monosomy of chromosomes 7 and 8 were observed in CD34 (+) cells (P (trend) < 0. 001), whereas in CD34 (-) cells only an increased level of monosomy 7 was detected (P (trend) = 0. 002).", "output": {"entities": {"gene": [{"text": "CD34", "start": 71, "end": 75}], "disease": [{"text": "trisomy", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Thus, targeting the CHI3L1 molecule may be a potential therapeutic molecular target for gliomas.", "output": {"entities": {"gene": [{"text": "CHI3L1", "start": 20, "end": 26}], "disease": [{"text": "gliomas", "start": 88, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHI3L1", "start": 20, "end": 26}, "tail": {"text": "gliomas", "start": 88, "end": 95}}]}}, "schema": []}
{"input": "To study the expression of leukemia inhibitory factor (LIF), its receptors LIFR and gp130, and its inhibitor SOCS1 in endometria from fertile women and infertile women with unexplained infertility.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 75, "end": 79}], "disease": [{"text": "infertile", "start": 152, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Molecular biological analyses of the induced lesions revealed point mutations in the p53 gene in 60. 9% of HCCs, and elevated expression of mRNAs for p53, c-myc, c-fos, TGF-alpha, TGF-beta1, alpha-fetoprotein, GST-P, and GGT, and decreased mRNA expression of EGF and EGFR in HCCs when compared to controls.", "output": {"entities": {"gene": [{"text": "p53", "start": 85, "end": 88}], "disease": [{"text": "HCC", "start": 107, "end": 110}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "p53", "start": 85, "end": 88}, "tail": {"text": "HCC", "start": 107, "end": 110}}]}}, "schema": []}
{"input": "Methylation specific PCR showed that UNC5C promoter was methylated in two renal carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "UNC5C", "start": 37, "end": 42}], "disease": [{"text": "renal carcinoma", "start": 74, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "UNC5C", "start": 37, "end": 42}, "tail": {"text": "renal carcinoma", "start": 74, "end": 89}}]}}, "schema": []}
{"input": "Heterozygous mutations affecting the hematopoietic transcription factor CBFA2 (also AML1/RUNX1) were recently reported to be associated with familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML, MIM 601399).", "output": {"entities": {"gene": [{"text": "MIM", "start": 224, "end": 227}], "disease": [{"text": "platelet disorder", "start": 150, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The t (X; 18) (p11. 2; q11. 2) translocation commonly found in synovial sarcoma (SS) results in the fusion of the SYT gene on chromosome 18 to either of two closely related genes, SSX1 and SSX2, on chromosome X.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 189, "end": 193}], "disease": [{"text": "translocation", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "MRI did not show frank APH (by height criteria) in any of the subjects: pituitary height was normal (5. 6 mm, + 1. 8 SDS) in the oldest sibling, and it was low but not below 2 SDS by age-adjusted criteria in the second (3 mm,-1. 4 SDS), and third sibling (2. 8 mm,-1. 7 SDS).", "output": {"entities": {"gene": [{"text": "APH", "start": 23, "end": 26}], "disease": [{"text": "height", "start": 31, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The DPD mRNA level in HCC (4. 31 +/-4. 21) was lower than that in adjacent liver (6. 53 +/-2. 93) (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "DPD", "start": 4, "end": 7}], "disease": [{"text": "HCC", "start": 22, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPD", "start": 4, "end": 7}, "tail": {"text": "HCC", "start": 22, "end": 25}}]}}, "schema": []}
{"input": "Univariate analysis revealed associations of the FTO gene variants with the values of blood pressure, triglycerides, fasting glucose and HOMA insulin resistance index.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 49, "end": 57}], "disease": [{"text": "insulin resistance", "start": 142, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Instead we found that ectopic expression of KSHV-GPCR potently induces the kinase activity of Akt/protein kinase B in a dose-dependent manner and triggers its translocation to the plasma membrane.", "output": {"entities": {"gene": [{"text": "protein kinase B", "start": 98, "end": 114}], "disease": [{"text": "translocation", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Our data also demonstrate that, among infertile men with varicocele, severely oligozoospermic and OAT men with varicocele have higher incidences of genetic defects than mildly oligozoospermic and azoospermic men.", "output": {"entities": {"gene": [{"text": "OAT", "start": 98, "end": 101}], "disease": [{"text": "varicocele", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Further, the heart weight/body weight ratio between MYLK3-Tg and MYLK3-WT mice and between GPR37L1-Tg and GPR37L1-KO mice differed significantly.", "output": {"entities": {"gene": [{"text": "GPR37L1", "start": 91, "end": 98}], "disease": [{"text": "body weight", "start": 26, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Our results are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the BRCA1 and BRCA2 regions of Ashkenazi Jews.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 223, "end": 228}], "disease": [{"text": "constriction", "start": 99, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In both the ovarian surface and inclusion cyst epithelia, the percentage of cells was determined that stained positively for Ki67, p21, p27, p53, cyclin A, cyclin D1, bcl-2 and the presence of HER-2/neu, oestrogen (ER-alpha) and progesterone receptors (PR).", "output": {"entities": {"gene": [{"text": "ER-alpha", "start": 215, "end": 223}], "disease": [{"text": "inclusion cyst", "start": 32, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "We found stronger expression of RGC-32 and higher abnormal expression rate of E-cadherin in pancreatic cancer tissues than those in chronic pancreatitis tissues and normal pancreatic tissues.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 78, "end": 88}], "disease": [{"text": "chronic pancreatitis", "start": 132, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "In contrast to the broad expression of both CMTM3 and CMTM4 in normal human adult tissues, only CMTM3 is silenced or down-regulated in common carcinoma (gastric, breast, nasopharyngeal, esophageal, and colon) cell lines and primary tumors.", "output": {"entities": {"gene": [{"text": "CMTM4", "start": 54, "end": 59}], "disease": [{"text": "esophageal", "start": 186, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We found differential DNA methylation at 53 sites in SAT from LBW vs normal birthweight (NBW) men (false discovery rate < 5%), including sites in the FADS2 and CPLX1 genes previously associated with type 2 diabetes.", "output": {"entities": {"gene": [{"text": "FADS2", "start": 150, "end": 155}], "disease": [{"text": "birthweight", "start": 76, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Only 1 case showed a BCL2 translocation, reflecting a double-hit case with features intermediate between DLBCL and Burkitt lymphoma.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 21, "end": 25}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The Bcl-x, Mcl-1, Bad, and Bax proteins were also expressed in all CTCL skin lesions tested.", "output": {"entities": {"gene": [{"text": "Bcl-x", "start": 4, "end": 9}], "disease": [{"text": "skin lesions", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The membrane protein tyrosine phosphatase receptor U (PTPRU) has been shown to function as a negative regulator of adhesion and proliferation in certain cancer cell types, primarily through its dephosphorylation of β-catenin and inhibition of subsequent downstream signaling.", "output": {"entities": {"gene": [{"text": "PTPRU", "start": 54, "end": 59}], "disease": [{"text": "adhesion", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshift mutation (4570insA, A1484S--& gt; X1492), a missense mutation (A986D) in a TD family, and a missense mutation (R170C) in aboriginal subjects with FHA.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 52, "end": 57}], "disease": [{"text": "TD", "start": 157, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA1", "start": 52, "end": 57}, "tail": {"text": "TD", "start": 157, "end": 159}}]}}, "schema": []}
{"input": "We identified 113 candidate genes for congenital heart defects within these CNVs, including BTRC, CHRNB3, CSRP2BP, ERBB2, ERMARD, GLIS3, PLN, PTPRJ, RLN3, and TCTE3.", "output": {"entities": {"gene": [{"text": "ERMARD", "start": 122, "end": 128}], "disease": [{"text": "congenital heart defects", "start": 38, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Thus, s/s homozygous participants required minimal exposure to TLE (1 TLE) to acquire a level of risk for depression that was only found among l/s or l/l individuals after significantly higher exposure to TLEs (two or more TLEs).", "output": {"entities": {"gene": [{"text": "TLE (1", "start": 63, "end": 69}], "disease": [{"text": "depression", "start": 106, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLE (1", "start": 63, "end": 69}, "tail": {"text": "depression", "start": 106, "end": 116}}]}}, "schema": []}
{"input": "In addition, the adenovirus-mediated reexpression of Gadd45gamma significantly inhibited the proliferation of anaplastic thyroid carcinoma cells, ARO, FRO, and NPA cells, which was attributed to apoptosis.", "output": {"entities": {"gene": [{"text": "ARO", "start": 146, "end": 149}], "disease": [{"text": "adenovirus", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Our recent observations indicate that AEG-1 exerts its effects by activating the nuclear factor kappa B (NF-kappaB) pathway and AEG-1 is a downstream target of Ha-ras and plays an important role in Ha-ras-mediated tumorigenesis.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 38, "end": 43}], "disease": [{"text": "tumorigenesis", "start": 214, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Significant learning difficulties were present in the three patients with megabase-sized deletions, which suggests that haploinsufficiency of genes neighboring TWIST contributes to developmental delay.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 160, "end": 165}], "disease": [{"text": "learning difficulties", "start": 12, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, expression of GPX2 is associated with cancer metastasis from rat HCCs both in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "GPX2", "start": 29, "end": 33}], "disease": [{"text": "metastasis", "start": 60, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPX2", "start": 29, "end": 33}, "tail": {"text": "metastasis", "start": 60, "end": 70}}]}}, "schema": []}
{"input": "The expression of two somatostatin receptor subtypes, SSTR1 and SSTR2, was studied in 27 pituitary tumors and 1 chronic lymphocytic leukemia pituitary infiltrate.", "output": {"entities": {"gene": [{"text": "SSTR1", "start": 54, "end": 59}], "disease": [{"text": "chronic lymphocytic leukemia", "start": 112, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "We investigated the influence of alpha6beta1 on vascular endothelial growth factor (VEGF) expression because autocrine VEGF is necessary for the survival of serum-deprived cells in hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 84, "end": 88}], "disease": [{"text": "hypoxia", "start": 181, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "IL-17A, and possibly IL-17F, may contribute to amplification and persistence of inflammatory processes implicated in inflammation-associated cancer.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 21, "end": 27}], "disease": [{"text": "inflammation", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "DRD4 allelic variation may be a prognostic biomarker for challenging behaviors in children with autism spectrum disorder, but these exploratory findings remain tentative pending replication with larger independent samples.", "output": {"entities": {"gene": [{"text": "DRD4", "start": 0, "end": 4}], "disease": [{"text": "autism spectrum disorder", "start": 96, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DRD4", "start": 0, "end": 4}, "tail": {"text": "autism spectrum disorder", "start": 96, "end": 120}}]}}, "schema": []}
{"input": "A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5.", "output": {"entities": {"gene": [{"text": "GDF5", "start": 134, "end": 138}], "disease": [{"text": "postaxial polydactyly", "start": 51, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "ML4 mutations are shown to impair the ability of TRPML1 to permeate Fe (2 +) at varying degrees, which correlate well with the disease severity.", "output": {"entities": {"gene": [{"text": "TRPML1", "start": 49, "end": 55}], "disease": [{"text": "ML4", "start": 0, "end": 3}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPML1", "start": 49, "end": 55}, "tail": {"text": "ML4", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Although overexpressing ASC in metastatic melanoma showed no effects on cell viability, silencing ASC with short hairpin RNA induced G1 cell cycle arrest, reduced cell viability, and suppressed tumorigenesis in metastatic melanoma.", "output": {"entities": {"gene": [{"text": "ASC", "start": 24, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "To characterize the role of the kallikrein-kinin system in diabetic cardiopathy, we studied the effect of streptozotocin (STZ) on the regulation of the myocardial bradykinin (BK) receptors, the B1 and B2 type, and two tissue kallikrein genes, rat kallikrein 1 (rKLK1) and rKLK7, in severely hyperglycemic rats.", "output": {"entities": {"gene": [{"text": "STZ", "start": 122, "end": 125}], "disease": [{"text": "cardiopathy", "start": 68, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "HIFalpha can then dimerize with HIFbeta and translocate to the nucleus, where it will transcriptionally upregulate a series of hypoxia-responsive genes, including vascular endothelial growth factor (VEGF), platelet-derived growth factor (PDGF), and others.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 199, "end": 203}], "disease": [{"text": "hypoxia", "start": 127, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "These results identify a novel chemoresistance mechanism in malignant gliomas and show that combination of drugs capable of suppressing GRP78 with conventional agents such as temozolomide might represent a novel approach to eliminate residual tumor cells after surgery and increase the effectiveness of malignant glioma chemotherapy.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 136, "end": 141}], "disease": [{"text": "residual tumor", "start": 234, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "To maximize the safety and efficacy of ETAR-targeted OC therapy, we investigated the role of other G protein subunits such as G & #945; s in the ETAR-mediated ovarian oncogenic signaling.", "output": {"entities": {"gene": [{"text": "ETAR", "start": 39, "end": 43}], "disease": [{"text": "OC", "start": 53, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ETAR", "start": 39, "end": 43}, "tail": {"text": "OC", "start": 53, "end": 55}}]}}, "schema": []}
{"input": "Thus, we examined the expression of AGR2 and its tumor-promoting activity in biliary tract cancer cells in this study.", "output": {"entities": {"gene": [{"text": "AGR2", "start": 36, "end": 40}], "disease": [{"text": "biliary tract cancer", "start": 77, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Rat C6 or human U87 glioma cells were then introduced into the culture to evaluate VSV as an oncolytic therapy.", "output": {"entities": {"gene": [{"text": "U87", "start": 16, "end": 19}], "disease": [{"text": "glioma", "start": 20, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "In order to validate and prioritize the key genes that drive behavior without some of the pleiotropic environmental confounds present in humans, we used a stress-reactive animal model of alcoholism developed by our group, the D-box binding protein (DBP) knockout mouse, consistent with the surfeit of stress theory of addiction proposed by Koob and colleagues.", "output": {"entities": {"gene": [{"text": "DBP", "start": 249, "end": 252}], "disease": [{"text": "addiction", "start": 318, "end": 327}]}, "relations": {}}, "schema": []}
{"input": "The same HNF1A coding variants were associated with higher low-density lipoprotein cholesterol, apolipoprotein B, creatinine, and fibrinogen in EA.", "output": {"entities": {"gene": [{"text": "HNF1A", "start": 9, "end": 14}], "disease": [{"text": "fibrinogen", "start": 130, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Because NER (plaque) was higher for inversion-recovery fast spin echo than for fast spin echo, but with high inter-scan variability, repeated inversion-recovery fast spin echo imaging and averaging of the obtained NER (plaque) values is recommended.", "output": {"entities": {"gene": [{"text": "NER", "start": 8, "end": 11}], "disease": [{"text": "plaque", "start": 13, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Mutations throughout the ADAMTS13 gene have been identified in congenital TTP patients, most of whom have initial episodes during infancy or in early childhood.", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 25, "end": 33}], "disease": [{"text": "congenital TTP", "start": 63, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS13", "start": 25, "end": 33}, "tail": {"text": "congenital TTP", "start": 63, "end": 77}}]}}, "schema": []}
{"input": "The immunocytochemical demonstration of BCL2 protein overexpression in at least some cases of MM has suggested the possibility of translocation-mediated deregulation of the BCL2 proto-oncogene.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 40, "end": 44}], "disease": [{"text": "translocation", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that UTR-related pathway may play a role in colon carcinogenesis and that UTR may function as a target for therapeutic intervention in colon cancer.", "output": {"entities": {"gene": [{"text": "UTR", "start": 24, "end": 27}], "disease": [{"text": "carcinogenesis", "start": 69, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Silencing the MET oncogene leads to regression of experimental tumors and metastases.", "output": {"entities": {"gene": [{"text": "MET oncogene", "start": 14, "end": 26}], "disease": [{"text": "regression", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "To study the relationship between prognosis and pathological characteristics, proliferating cell nuclear antigen labeling index (PCNA-LI) and DNA index (DI) in patients with moderately differentiated hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 226, "end": 229}], "disease": [{"text": "moderately differentiated hepatocellular carcinoma", "start": 174, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Investigation of functional relationships between the eight fine-mapped genes using Ingenuity Pathway Analysis identified a single functional network (p = 10 (-13)) containing five fine-mapped genes-LNX1, CAMK2D, ZFHX3, CSMD1, and TCP1-with functional relationships potentially related to inflammation, apoptosis, and cardiovascular pathology.", "output": {"entities": {"gene": [{"text": "LNX1", "start": 199, "end": 203}], "disease": [{"text": "cardiovascular pathology", "start": 318, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "CLP resulted in a poor survival rate, evidence of hippocampal oxidative injury, cell apoptosis and cognitive dysfunction as well as elevated TNF-α level and caspases activities, increased weight loss and clinical scores.", "output": {"entities": {"gene": [{"text": "CLP", "start": 0, "end": 3}], "disease": [{"text": "cognitive dysfunction", "start": 99, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that TXR1/TSP1 and BRCA1 expression could be used for the prediction of taxanes' resistance in the treatment of NSCLC.", "output": {"entities": {"gene": [{"text": "TXR1", "start": 25, "end": 29}], "disease": [{"text": "NSCLC", "start": 132, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TXR1", "start": 25, "end": 29}, "tail": {"text": "NSCLC", "start": 132, "end": 137}}]}}, "schema": []}
{"input": "Our results suggest that glutamate plays a key role in cue-induced relapse to cocaine-seeking behavior, implicating GLT1 as a potential therapeutic target for cocaine addiction.", "output": {"entities": {"gene": [{"text": "GLT1", "start": 116, "end": 120}], "disease": [{"text": "cocaine addiction", "start": 159, "end": 176}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GLT1", "start": 116, "end": 120}, "tail": {"text": "cocaine addiction", "start": 159, "end": 176}}]}}, "schema": []}
{"input": "Within-family analyses of linkage disequilibrium, using the TDT, suggested association and linkage of ADHD with DAT1 and that this relation was especially strong with the combined but not the inattentive subtype.", "output": {"entities": {"gene": [{"text": "TDT", "start": 60, "end": 63}], "disease": [{"text": "inattentive", "start": 192, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "In the CAM experimental glioma, IL6 or VEGF knockdown reduced growth and vascularization of the tumors with a comparable efficiency, but increased invasion of residual tumor cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 39, "end": 43}], "disease": [{"text": "residual tumor", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to determine whether modulation of E-cadherin-mediated homophilic and heterotypic interactions between keratinocytes and LCs is involved in these abnormalities of LCs in (pre) neoplastic cervical epithelium.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 61, "end": 71}], "disease": [{"text": "abnormalities", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In all, 11 independent GWL studies of either neuroticism (n = 8) or anxiety disorders (n = 3) were collected, which comprised of 5341 families with 15 529 individuals.", "output": {"entities": {"gene": [{"text": "GWL", "start": 23, "end": 26}], "disease": [{"text": "anxiety disorders", "start": 68, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The HAL-1/13-Ku80 antigen is present on the surface of leukemic and solid tumor cell lines, including T and B lymphomas, myeloid leukemias, neuroblastoma, rhabdomyosarcoma, and breast carcinoma cells.", "output": {"entities": {"gene": [{"text": "HAL", "start": 4, "end": 7}], "disease": [{"text": "myeloid leukemias", "start": 121, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "When the mouse enteroendocrine STC-1 cell line was transfected with the human preproinsulin gene, driven either by the K-cell specific GIP promoter or by the constitutive cytomegalovirus (CMV) promoter, human insulin co-localizes in vesicles that contain GIP (GIP or CMV promoter) or GLP-1 (CMV promoter).", "output": {"entities": {"gene": [{"text": "GIP", "start": 135, "end": 138}], "disease": [{"text": "cytomegalovirus", "start": 171, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, staurosporine, a nonselective PKC inhibitor, prevented the induction of VEGF by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 85, "end": 89}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "MCM-2 is a therapeutic target of Trichostatin A in colon cancer cells.", "output": {"entities": {"gene": [{"text": "MCM-2", "start": 0, "end": 5}], "disease": [{"text": "colon cancer", "start": 51, "end": 63}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MCM-2", "start": 0, "end": 5}, "tail": {"text": "colon cancer", "start": 51, "end": 63}}]}}, "schema": []}
{"input": "Further studies confirmed that P13K/AKT and p38/MAPK signaling was involved in miR-543/TRPM7 axis mediated CC progression.", "output": {"entities": {"gene": [{"text": "miR-543", "start": 79, "end": 86}], "disease": [{"text": "CC", "start": 107, "end": 109}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-543", "start": 79, "end": 86}, "tail": {"text": "CC", "start": 107, "end": 109}}]}}, "schema": []}
{"input": "Monolayer cultures of glioma cell lines expressing mutant p53 (U251 and U373) or wild-type p53 (U87 and D54) were infected with Ad-p53 and analyzed by Western blotting.", "output": {"entities": {"gene": [{"text": "U87", "start": 96, "end": 99}], "disease": [{"text": "glioma", "start": 22, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "We also found that MWEs initially activate JNK/p38 and p53, which in turn activate both Fas-ligand and mitochondria pathways, thereby causing mitochondria translocation of Bax and the reduction of Bcl-2 that trigger the cleavage of procaspases, finally resulting in apoptosis of VSMCs.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 197, "end": 202}], "disease": [{"text": "translocation", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "This report describes the first putative mutations, p. L70P and p. R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia.", "output": {"entities": {"gene": [{"text": "UROC1", "start": 102, "end": 107}], "disease": [{"text": "ataxia", "start": 198, "end": 204}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "UROC1", "start": 102, "end": 107}, "tail": {"text": "ataxia", "start": 198, "end": 204}}]}}, "schema": []}
{"input": "In this project, we evaluated the effects of silibinin, a natural plant component of milk thistle seeds, to potentiate toxic effects of chemotherapy drugs such as temozolomide, etoposide and irinotecan on LN229, U87 and A172 (P53 and phosphatase and tensin homolog (PTEN)-tumor suppressor-mutated) glioma cell lines.", "output": {"entities": {"gene": [{"text": "U87", "start": 212, "end": 215}], "disease": [{"text": "glioma", "start": 298, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated 34 cases of HD (10 LP, 14 NS, and 10 MC) for bcl-2 gene rearrangements to determine if this B-cell lymphoma-associated translocation also plays a role in the pathogenesis of HD.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 76, "end": 86}], "disease": [{"text": "translocation", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "FGF20", "start": 155, "end": 160}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF20", "start": 155, "end": 160}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "Adiponectin, cytokines of interleukin-6 (IL-6) and necrosis factor-α (TNF-α) and toll-like receptor 4 (TLR4) expression level in adipose tissue were measured using real-time quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 103, "end": 107}], "disease": [{"text": "necrosis", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Lipoprotein (a): its role in childhood thromboembolism.", "output": {"entities": {"gene": [{"text": "Lipoprotein (a", "start": 0, "end": 14}], "disease": [{"text": "thromboembolism", "start": 39, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Lipoprotein (a", "start": 0, "end": 14}, "tail": {"text": "thromboembolism", "start": 39, "end": 54}}]}}, "schema": []}
{"input": "The effect of alpha-melanocyte stimulating hormone (alpha-MSH) was investigated on gentamicin-induced acute renal injury in rats.", "output": {"entities": {"gene": [{"text": "alpha-melanocyte stimulating hormone", "start": 14, "end": 50}], "disease": [{"text": "acute renal injury", "start": 102, "end": 120}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "alpha-melanocyte stimulating hormone", "start": 14, "end": 50}, "tail": {"text": "acute renal injury", "start": 102, "end": 120}}]}}, "schema": []}
{"input": "Demographic and clinical characteristics of the cases (age at the study period, body weight, mean dose and plasma concentration of valproate acid (VPA)/clobazam (CLB) off and on STP, mean plasma concentration of norclobazam (N-CLB) off and on STP, degree of seizure reduction, and adverse effects of STP) were examined with each CYP2C19 polymorphism.", "output": {"entities": {"gene": [{"text": "STP", "start": 178, "end": 181}], "disease": [{"text": "seizure", "start": 258, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "In human breast cancer tissues, the levels of p54 (nrb) and SREBP-1a proteins were positively correlated with each other.", "output": {"entities": {"gene": [{"text": "p54", "start": 46, "end": 49}], "disease": [{"text": "breast cancer", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Mutations in COCH have been associated with autosomal dominant nonsyndromic hearing loss (DFNA9) and are frequently accompanied by vestibular hypofunction.", "output": {"entities": {"gene": [{"text": "COCH", "start": 13, "end": 17}], "disease": [{"text": "vestibular hypofunction", "start": 131, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "It is becoming clear that mutations in the KVLQT1, human \" ether-a-go-go \" related gene, cardiac voltage-dependent sodium channel gene, minK and MiRP1 genes, respectively, are responsible for the LQT1, LQT2, LQT3, LQT5 and LQT6 variants of the Romano-Ward syndrome, characterized by autosomal dominant transmission and no deafness.", "output": {"entities": {"gene": [{"text": "MiRP1", "start": 145, "end": 150}], "disease": [{"text": "deafness", "start": 322, "end": 330}]}, "relations": {}}, "schema": []}
{"input": "BIRC3, a severe hypoxia-activated gene, was significantly increased in SS (8. 2, p & lt; 0. 004), when compared with the controls.", "output": {"entities": {"gene": [{"text": "BIRC3", "start": 0, "end": 5}], "disease": [{"text": "SS", "start": 71, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BIRC3", "start": 0, "end": 5}, "tail": {"text": "SS", "start": 71, "end": 73}}]}}, "schema": []}
{"input": "The protein-energy malnutrition (PEM) that is characterized by hypoproteinemia, edema, and anemia has been reported in 5-13% of infants with cystic fibrosis (CF).", "output": {"entities": {"gene": [{"text": "PEM", "start": 33, "end": 36}], "disease": [{"text": "protein-energy malnutrition", "start": 4, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "To define the relationship between the MAL gene and the metastatic process, we evaluated the expression status of the gene in matched primary and metastatic tumors of head and neck cancer by semiquantitative reverse transcription-polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "MAL", "start": 39, "end": 42}], "disease": [{"text": "head and neck cancer", "start": 167, "end": 187}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAL", "start": 39, "end": 42}, "tail": {"text": "head and neck cancer", "start": 167, "end": 187}}]}}, "schema": []}
{"input": "Here we report a unique family carrying non-identical MECP2 mutations in exon 2 wherein the proband with classical RS was carrying a de-novo early truncating frameshift mutation while her asymptomatic mother was carrying a missense mutation, both predicted as pathogenic mutations.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 54, "end": 59}], "disease": [{"text": "asymptomatic", "start": 188, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "By real-time-PCR, mRNA-expression levels of HMGB1 and RAGE were upregulated in muscle biopsies of patients with IBM and PM, but not in muscular dystrophy or non-myopathic controls.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 44, "end": 49}], "disease": [{"text": "muscular dystrophy", "start": 135, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Of the patients without apparent KIT mutations, none have apparent abnormalities of the gene encoding SLF itself (MGF), and genetic linkage analyses in two of these families are suggestive of linkage of the piebald phenotype to KIT.", "output": {"entities": {"gene": [{"text": "MGF", "start": 114, "end": 117}], "disease": [{"text": "abnormalities", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Regions spanning the G8 and G7 repeat sequences of BAX and AXIN2 were sequenced for mutations including expansion and deletion abnormalities.", "output": {"entities": {"gene": [{"text": "BAX", "start": 51, "end": 54}], "disease": [{"text": "abnormalities", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Mdm2, p53, p21 and pAKT protein pathways in benign neoplasms of the salivary gland.", "output": {"entities": {"gene": [{"text": "p21", "start": 11, "end": 14}], "disease": [{"text": "benign neoplasms", "start": 44, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "They indicate that ATF3 is an androgen regulated gene that is highly expressed in prostate tumors and stimulating cell proliferation.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 19, "end": 23}], "disease": [{"text": "prostate tumors", "start": 82, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATF3", "start": 19, "end": 23}, "tail": {"text": "prostate tumors", "start": 82, "end": 97}}]}}, "schema": []}
{"input": "Serum marker of bone resorption, beta-C telopeptide was studied.", "output": {"entities": {"gene": [{"text": "beta-C", "start": 33, "end": 39}], "disease": [{"text": "bone resorption", "start": 16, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Quantitative protein expression profiling of 14-3-3 isoforms in human renal carcinoma shows 14-3-3 epsilon is involved in limitedly increasing renal cell proliferation.", "output": {"entities": {"gene": [{"text": "14-3-3 epsilon", "start": 92, "end": 106}], "disease": [{"text": "renal carcinoma", "start": 70, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 26, "end": 44}], "disease": [{"text": "lipoprotein lipase deficiency", "start": 26, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 26, "end": 44}, "tail": {"text": "lipoprotein lipase deficiency", "start": 26, "end": 55}}]}}, "schema": []}
{"input": "We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases.", "output": {"entities": {"gene": [{"text": "NFIX", "start": 105, "end": 109}], "disease": [{"text": "Malan syndrome", "start": 61, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NFIX", "start": 105, "end": 109}, "tail": {"text": "Malan syndrome", "start": 61, "end": 75}}]}}, "schema": []}
{"input": "Here, we identified the 28S ribosomal DNA (RN28S1) gene as a novel fusion partner of the B-cell leukemia/lymphoma 11B gene (BCL11B), the immunoglobulin κ variable 3-20 gene (IGKV3-20) and the component of oligomeric Golgi complex 1 gene (COG1) in hematologic malignancies.", "output": {"entities": {"gene": [{"text": "COG1", "start": 238, "end": 242}], "disease": [{"text": "lymphoma", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We assessed the cross sectional association between APOE genotype and dementia status in a community based sample, the MRC Cognitive Function and Ageing Study (MRC CFAS).", "output": {"entities": {"gene": [{"text": "MRC", "start": 119, "end": 122}], "disease": [{"text": "dementia", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Moreover, a neutralizing antibody of IL-6, which was injected into areas surrounding the sciatic nerve on day 0, 3, and 6, significantly attenuated vincristine-induced mechanical allodynia from day 7 to day 28.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 37, "end": 41}], "disease": [{"text": "mechanical allodynia", "start": 168, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 37, "end": 41}, "tail": {"text": "mechanical allodynia", "start": 168, "end": 188}}]}}, "schema": []}
{"input": "To explore the feasibility of ex vivo lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis type II), we evaluated retrovirus-mediated gene transfer of the iduronate-2-sulfatase (IDS) coding sequence into peripheral blood lymphocytes from enzyme-deficient individuals (PBLMPS).", "output": {"entities": {"gene": [{"text": "IDS", "start": 197, "end": 200}], "disease": [{"text": "mild", "start": 66, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Among the 18 patients with MYC abnormality, four had simultaneous MYC translocations, but no BCL2 translocation was detected among patients with BCL2 abnormality.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 93, "end": 97}], "disease": [{"text": "translocation", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials.", "output": {"entities": {"gene": [{"text": "SNAP", "start": 242, "end": 246}], "disease": [{"text": "fibrillation", "start": 161, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Nucleotide excision repair (NER) enzymes are critical for the removal of bulky DNA adducts caused by environmental carcinogens such as smoking.", "output": {"entities": {"gene": [{"text": "NER", "start": 28, "end": 31}], "disease": [{"text": "smoking", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 17, "end": 23}], "disease": [{"text": "PNDM", "start": 56, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ11", "start": 17, "end": 23}, "tail": {"text": "PNDM", "start": 56, "end": 60}}]}}, "schema": []}
{"input": "Hematologic findings from members of the patients' s family suggest that an alpha-thalassemia gene may be linked to that of the structurally abnormal alpha-chain.", "output": {"entities": {"gene": [{"text": "alpha-chain", "start": 150, "end": 161}], "disease": [{"text": "alpha-thalassemia", "start": 76, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We have tested the ability of a plasmid vector-mediated MMP-2 siRNA (p-MMP-2) to modulate ionizing radiation-induced invasive phenotype in the human glioma cell lines U251 and U87.", "output": {"entities": {"gene": [{"text": "U87", "start": 176, "end": 179}], "disease": [{"text": "glioma", "start": 149, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "PIGA encodes a GPI biosynthesis protein, phosphatidylinositol N-acetylglucosaminyltransferase subunit A, and erythrocytes deficient in GPI-anchored membrane proteins, including CD59, undergo complement-mediated hemolysis.", "output": {"entities": {"gene": [{"text": "GPI", "start": 15, "end": 18}], "disease": [{"text": "hemolysis", "start": 211, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Sickle red blood cells (SS-RBCs) have enhanced adhesion to the plasma and subendothelial matrix protein thrombospondin-1 (TSP) under conditions of flow in vitro.", "output": {"entities": {"gene": [{"text": "TSP", "start": 122, "end": 125}], "disease": [{"text": "adhesion", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The EMT-activator ZEB1 is crucial in malignant tumor progression by linking EMT-activation and stemness-maintenance.", "output": {"entities": {"gene": [{"text": "EMT", "start": 4, "end": 7}], "disease": [{"text": "tumor progression", "start": 47, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "An additional question among the NER defective patients is how to reconcile widely different skin and central nervous system symptoms with mutations in the same biochemical pathway.", "output": {"entities": {"gene": [{"text": "NER", "start": 33, "end": 36}], "disease": [{"text": "nervous system symptoms", "start": 110, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aimed to investigate the potential role and molecular mechanism of miR-148b-3p in regulating cardiomyocyte apoptosis induced by hypoxia/reoxygenation (H/R) injury in vitro, a cellular model of myocardial ischemia/reperfusion injury.", "output": {"entities": {"gene": [{"text": "miR-148b", "start": 85, "end": 93}], "disease": [{"text": "reperfusion injury", "start": 231, "end": 249}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-148b", "start": 85, "end": 93}, "tail": {"text": "reperfusion injury", "start": 231, "end": 249}}]}}, "schema": []}
{"input": "Small double-stranded RNA mediates the anti-cancer effects of p21WAF1/ClP1 transcriptional activation in a human glioma cell line.", "output": {"entities": {"gene": [{"text": "ClP1", "start": 70, "end": 74}], "disease": [{"text": "cancer", "start": 44, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine whether total thyroidectomy in asymptomatic young members of kindreds with MEN-2A who had a mutated allele of the RET proto-oncogene could prevent or cure medullary thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 137, "end": 155}], "disease": [{"text": "asymptomatic", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Consistently, EV71-stimulated translocation of NF-kappaB into the nucleus and degradation of IkappaBalpha in the cytosol was blocked by pretreatment with the selective inhibitors of MEK1/2 (U0126) and NF-kappaB (Bay11-7085), respectively, suggesting that MEK1/2-p42/p44 MAPK cascade linking to NF-kappaB was involved in COX-2 expression.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 182, "end": 186}], "disease": [{"text": "translocation", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We studied primary samples of 100 patients with lymphoid leukaemias [B-lineage acute lymphoblastic leukaemia (ALL), n = 23; T-ALL, n = 7; B-cell chronic lymphocytic (B-CLL) or prolymphocytic (B-PLL) leukaemia, n = 50; T-CLL/T-PLL, n = 20] using fluorescence in situ hybridization (FISH) with eight overlapping cosmid clones covering the region on chromosome band 9p21 containing CDKN2.", "output": {"entities": {"gene": [{"text": "FISH", "start": 281, "end": 285}], "disease": [{"text": "leukaemia", "start": 57, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.", "output": {"entities": {"gene": [{"text": "PCCB", "start": 52, "end": 56}], "disease": [{"text": "propionic acidaemia", "start": 106, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCCB", "start": 52, "end": 56}, "tail": {"text": "propionic acidaemia", "start": 106, "end": 125}}]}}, "schema": []}
{"input": "These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.", "output": {"entities": {"gene": [{"text": "SLC6A13", "start": 99, "end": 106}], "disease": [{"text": "bipolar disorder", "start": 81, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC6A13", "start": 99, "end": 106}, "tail": {"text": "bipolar disorder", "start": 81, "end": 97}}]}}, "schema": []}
{"input": "Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.", "output": {"entities": {"gene": [{"text": "DMR", "start": 66, "end": 69}], "disease": [{"text": "transient neonatal diabetes mellitus", "start": 29, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "BCL2 expression was common (63%) in the absence of BCL2/IGH @translocation.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "By using comparative real-time PCR, Taqman gene expression assays, and the delta-delta comparative threshold method we detected a significant reduction in Kcnma1 expression in microdissected dentate gyrus at different intervals after status epilepticus (24 h, 10 days, 1 month, and more than 2 months).", "output": {"entities": {"gene": [{"text": "Kcnma1", "start": 155, "end": 161}], "disease": [{"text": "status epilepticus", "start": 234, "end": 252}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Kcnma1", "start": 155, "end": 161}, "tail": {"text": "status epilepticus", "start": 234, "end": 252}}]}}, "schema": []}
{"input": "We show that deletion of either TNFR1 or TNFR2 leads to an antidepressant-like response in the forced swim test and that mice lacking TNFR2 demonstrate a hedonic response in a sucrose drinking test compared with wildtype littermates.", "output": {"entities": {"gene": [{"text": "TNFR1", "start": 32, "end": 37}], "disease": [{"text": "drinking", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "As PTEN is a dual phosphatase mutated in autosomal inherited disorders with phenotypes similar to those of PJS (Bannayan-Riley-Ruvalcaba syndrome and Cowden disease), our study suggests a functional link between the proteins involved in different hamartomatous polyposis syndromes and emphasizes the central role played by LKB1 as a tumor suppressor in the small intestine.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 323, "end": 327}], "disease": [{"text": "PJS", "start": 107, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LKB1", "start": 323, "end": 327}, "tail": {"text": "PJS", "start": 107, "end": 110}}]}}, "schema": []}
{"input": "The CyplA1 Mspl polymorphism itself does not seem to be related to susceptibility to bronchial carcinogenesis in this area.", "output": {"entities": {"gene": [{"text": "Mspl", "start": 11, "end": 15}], "disease": [{"text": "carcinogenesis", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Filamin A studies in other children with FG syndrome would help to confirm this association.", "output": {"entities": {"gene": [{"text": "Filamin A", "start": 0, "end": 9}], "disease": [{"text": "FG syndrome", "start": 41, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Filamin A", "start": 0, "end": 9}, "tail": {"text": "FG syndrome", "start": 41, "end": 52}}]}}, "schema": []}
{"input": "EPO injections improved blood counts in' anemic' patients (< or = 12. 0 g/dl) receiving chemotherapy, but had little effect when administered to patients with higher hemoglobin concentrations.", "output": {"entities": {"gene": [{"text": "EPO", "start": 0, "end": 3}], "disease": [{"text": "hemoglobin", "start": 166, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Our results indicated that RSV induced ultrastructural abnormalities in axonemal basal bodies and decreased the expression of β-tubulin as well as two genes involved in ciliagenesis, FOXJ1 and DNAI2.", "output": {"entities": {"gene": [{"text": "DNAI2", "start": 193, "end": 198}], "disease": [{"text": "abnormalities", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of CDH11 decreases SMC migration and proliferation, two pathogenic effectors of intimal hyperplasia.", "output": {"entities": {"gene": [{"text": "SMC", "start": 30, "end": 33}], "disease": [{"text": "intimal hyperplasia", "start": 91, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Epithelial protein lost in neoplasm modulates platelet-derived growth factor-mediated adhesion and motility of mesangial cells.", "output": {"entities": {"gene": [{"text": "Epithelial protein lost in neoplasm", "start": 0, "end": 35}], "disease": [{"text": "adhesion", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We conclude that total myocardial apelin and APJ receptor levels increase in compensation for ischemic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "apelin", "start": 34, "end": 40}], "disease": [{"text": "ischemic cardiomyopathy", "start": 94, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Only two DR5 + patients (20%) had cryoglobulinemia, while 6 patients (30%) in the DR5-group had cryoglobulinemia (p = 0. 02; OR = 0. 07).", "output": {"entities": {"gene": [{"text": "DR5", "start": 9, "end": 12}], "disease": [{"text": "cryoglobulinemia", "start": 34, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 0, "end": 4}], "disease": [{"text": "pediatric granulomatous arthritis", "start": 16, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOD2", "start": 0, "end": 4}, "tail": {"text": "pediatric granulomatous arthritis", "start": 16, "end": 49}}]}}, "schema": []}
{"input": "After infection of gliomas U87 cells with equal amount of the recombinant retrovirus, TNF-α, and IL-1β concentrations in the supernatant of U87 cells were determined with ELISA.", "output": {"entities": {"gene": [{"text": "U87", "start": 27, "end": 30}], "disease": [{"text": "gliomas", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We found that, in the majority of ovarian carcinomas (61. 5%) and in a significant proportion of ovarian and breast cancer cell lines (45%), ARLTS1 is strongly down-regulated due to DNA methylation in its promoter region.", "output": {"entities": {"gene": [{"text": "ARLTS1", "start": 141, "end": 147}], "disease": [{"text": "ovarian carcinomas", "start": 34, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARLTS1", "start": 141, "end": 147}, "tail": {"text": "ovarian carcinomas", "start": 34, "end": 52}}]}}, "schema": []}
{"input": "Based upon these new findings, we recommend a combinatorial approach involving ASS1 sequencing and amniotic fluid citrulline/ornithine for the prenatal diagnosis of citrullinemia type I.", "output": {"entities": {"gene": [{"text": "ASS1", "start": 79, "end": 83}], "disease": [{"text": "citrullinemia type I", "start": 165, "end": 185}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASS1", "start": 79, "end": 83}, "tail": {"text": "citrullinemia type I", "start": 165, "end": 185}}]}}, "schema": []}
{"input": "In 11 patients with a recessive congenital disorder, which we refer to as \" the hypotonia-cystinuria syndrome, \" microdeletion of part of the SLC3A1 and PREPL genes on chromosome 2p21 was found.", "output": {"entities": {"gene": [{"text": "SLC3A1", "start": 142, "end": 148}], "disease": [{"text": "hypotonia-cystinuria syndrome", "start": 80, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC3A1", "start": 142, "end": 148}, "tail": {"text": "hypotonia-cystinuria syndrome", "start": 80, "end": 109}}]}}, "schema": []}
{"input": "METHODS: We examined the effects of PARG protein knockdown by RNA interference on invasion, migration and matrix adhesion of colon carcinoma cell lines in vitro and using a murine in vivo model of liver metastasis.", "output": {"entities": {"gene": [{"text": "PARG", "start": 36, "end": 40}], "disease": [{"text": "adhesion", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The activity of p38 was enhanced by infecting RA synovial fibroblasts with a replication-defective adenovirus that expresses a constitutively active form of MAPK kinase 3 (Ad-CA-MKK3), an upstream activator of p38.", "output": {"entities": {"gene": [{"text": "p38", "start": 16, "end": 19}], "disease": [{"text": "adenovirus", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "RCAN1 overexpression promotes age-dependent mitochondrial dysregulation related to neurodegeneration in Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 0, "end": 5}], "disease": [{"text": "neurodegeneration", "start": 83, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The helminth product ES-62 protects against septic shock via Toll-like receptor 4-dependent autophagosomal degradation of the adaptor MyD88.", "output": {"entities": {"gene": [{"text": "MyD88", "start": 134, "end": 139}], "disease": [{"text": "septic shock", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "To investigate the expressions of the insulin receptor (IR), insulin receptor substrate-1 (IRS-1), insulin receptor substrate-2 (IRS-2), phosphatidyl inositol 3-kinase (PI3K) and insulin-like growth factor-1 (IGF-1) of the livers of the male adult rats born with intrauterine growth retardation (IUGR), and to find out the relationship between IUGR and insulin resistance in their adult life.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 169, "end": 173}], "disease": [{"text": "insulin resistance", "start": 353, "end": 371}]}, "relations": {}}, "schema": []}
{"input": "Prevention of apoptosis-inducing factor translocation is a possible mechanism for protective effects of hepatocyte growth factor against neuronal cell death in the hippocampus after transient forebrain ischemia.", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 104, "end": 128}], "disease": [{"text": "ischemia", "start": 202, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts.", "output": {"entities": {"gene": [{"text": "SCYL1BP1", "start": 96, "end": 104}], "disease": [{"text": "gerodermia osteodysplastica", "start": 25, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCYL1BP1", "start": 96, "end": 104}, "tail": {"text": "gerodermia osteodysplastica", "start": 25, "end": 52}}]}}, "schema": []}
{"input": "Analysis of tumor xenografts demonstrated that PKM1 fibroblasts greatly induced tumor inflammation, as judged by CD45 staining.", "output": {"entities": {"gene": [{"text": "CD45", "start": 113, "end": 117}], "disease": [{"text": "inflammation", "start": 86, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The PNK protein is a key enzyme involved in the repair of single and double stranded DNA breaks, a process which is particularly important in the nervous system.", "output": {"entities": {"gene": [{"text": "PNK", "start": 4, "end": 7}], "disease": [{"text": "nervous system", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Our findings implicate MsrA as a negative regulator of vascular smooth muscle cell proliferation and neointimal hyperplasia after vascular injury through control of the Ras/Raf/mitogen-activated protein kinase kinase/extracellular signal-regulated kinase 1/2 signaling pathway.", "output": {"entities": {"gene": [{"text": "extracellular signal-regulated kinase 1", "start": 217, "end": 256}], "disease": [{"text": "hyperplasia", "start": 112, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Sodium iodide symporter expression showed up in all 20 cholangiocarcinomas, but in only 2 of the 26 hepatocellular carcinomas, investigated.", "output": {"entities": {"gene": [{"text": "Sodium iodide symporter", "start": 0, "end": 23}], "disease": [{"text": "cholangiocarcinomas", "start": 55, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Sodium iodide symporter", "start": 0, "end": 23}, "tail": {"text": "cholangiocarcinomas", "start": 55, "end": 74}}]}}, "schema": []}
{"input": "Prolidase deficiency is a rare recessive disorder caused by mutations in the prolidase gene and characterized by severe skin lesions.", "output": {"entities": {"gene": [{"text": "prolidase", "start": 77, "end": 86}], "disease": [{"text": "Prolidase deficiency", "start": 0, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "prolidase", "start": 77, "end": 86}, "tail": {"text": "Prolidase deficiency", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "Multiple regression analyses performed among the entire cohort of patients demonstrated that ACE genotype significantly and independently influences the presence of retinopathy, left ventricular hypertrophy, and microalbuminuria.", "output": {"entities": {"gene": [{"text": "ACE", "start": 93, "end": 96}], "disease": [{"text": "microalbuminuria", "start": 212, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Ten Aza-dC and/or TSA up-regulated genes (CPEB1, CD9, GJA1, BCL7c, GADD45G, AKAP12, TFPI2, CCNA1, SPARC, and BNIP3) were selected for methylation analysis in six MM cell lines, 24 samples from patients with monoclonal gammopathy of undetermined significance (MGUS), and 111 samples from patients with MM.", "output": {"entities": {"gene": [{"text": "CD9", "start": 49, "end": 52}], "disease": [{"text": "monoclonal gammopathy of undetermined significance", "start": 207, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "To explore the changes of vascular endothelial growth factor (VEGF), aquaporin (AQP) gene and protein expression during hypoxic encephaledema so as to provide the basis for elucidating the brain injury caused by acute hypoxic exposure and pathogenesis of the encephaledema.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 62, "end": 66}], "disease": [{"text": "hypoxic", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "For in vitro study MX-1 cultures were grown on dishes with a gas-permeable bottom to expose the cells to defined O2 concentrations (from 95% to 0%) for 4 h. Northern blot analysis showed significant VEGF mRNA in MX-1 cultures under normoxic conditions which was further increased by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 199, "end": 203}], "disease": [{"text": "hypoxia", "start": 283, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "Opposite functions of HIF-α isoforms in VEGF induction by TGF-β1 under non-hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 40, "end": 44}], "disease": [{"text": "hypoxic", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in DNA mismatch repair (MMR) genes with microsatellite instability (MSI) as its molecular hallmark.", "output": {"entities": {"gene": [{"text": "MMR", "start": 104, "end": 107}], "disease": [{"text": "microsatellite instability", "start": 120, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "IL-17A and IL-17F are inflammatory cytokines expressed by a novel subset of CD4 + Th cells and play critical function in inflammation.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 11, "end": 17}], "disease": [{"text": "inflammation", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Relations of TaqIA and TaqIB DRD2 genotypes with Parkinson' s disease were investigated and tested for interactive effects with smoking and the monoamine oxidase B (MAO-B) intron 13 polymorphism previously found to be related to smoking.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 29, "end": 33}], "disease": [{"text": "smoking", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "PTPA knockdown decreased mitochondrial membrane potential and induced Bax translocation into the mitochondria with a simultaneous release of Cyt C, activation of caspase-3, cleavage of poly (DNA ribose) polymerase (PARP), and decrease in Bcl-xl and Bcl-2 protein levels.", "output": {"entities": {"gene": [{"text": "PTPA", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In a rat stroke model, administration of IL-8-treated hBM-MSCs decreased the infarction volume and increased angiogenesis in the ischemic boundary zone compared with hBM-MSC treatment alone.", "output": {"entities": {"gene": [{"text": "MSC", "start": 58, "end": 61}], "disease": [{"text": "infarction", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In a lymphoblastoid cell line derived from a patient who developed MLL rearrangement, positive infant leukemia, defective ATM expression, and increased TOP2A expression were shown.", "output": {"entities": {"gene": [{"text": "ATM", "start": 122, "end": 125}], "disease": [{"text": "infant leukemia", "start": 95, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "To further analyze the alpha (v) beta3 signaling in melanoma cells, we over expressed OPN in M21 cells (M21/OPN).", "output": {"entities": {"gene": [{"text": "beta3", "start": 33, "end": 38}], "disease": [{"text": "melanoma", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined the synuclein exprsssion in colorectal cancer (CRC) tissues, tumor-matched non-neoplastic adjacent tissues (NNAT), and CRC cell lines, and then investigated clinical significance of synucleins.", "output": {"entities": {"gene": [{"text": "NNAT", "start": 135, "end": 139}], "disease": [{"text": "non-neoplastic", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis for epithelial membrane antigen, calretinin, vimentin, & #946;-catenin, melan-A, glucose transporter-1, cytokeratin CAM5. 2, Wilms tumor antigen-1, D2-40, CD146, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of malignant mesothelioma.", "output": {"entities": {"gene": [{"text": "melan-A", "start": 101, "end": 108}], "disease": [{"text": "malignant mesothelioma", "start": 271, "end": 293}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "melan-A", "start": 101, "end": 108}, "tail": {"text": "malignant mesothelioma", "start": 271, "end": 293}}]}}, "schema": []}
{"input": "Ongoing whole-genome association studies in bipolar disorder and major depression should further clarify the role of FKBP5 and other HPA genes in these illnesses.", "output": {"entities": {"gene": [{"text": "HPA", "start": 133, "end": 136}], "disease": [{"text": "major depression", "start": 65, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HPA", "start": 133, "end": 136}, "tail": {"text": "major depression", "start": 65, "end": 81}}]}}, "schema": []}
{"input": "There was a significant difference in the frequency of the E-cadherin 3'-UTR C--> T genotypes between endometriosis and controls (P = 0. 01).", "output": {"entities": {"gene": [{"text": "UTR", "start": 73, "end": 76}], "disease": [{"text": "endometriosis", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "MiR-124 inhibits neoplastic transformation, cell proliferation, and metastasis and downregulates Rho-associated protein kinase (ROCK1) in Colorectal Cancer (CRC).", "output": {"entities": {"gene": [{"text": "ROCK1", "start": 128, "end": 133}], "disease": [{"text": "neoplastic transformation, cell", "start": 17, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated for the first time that increased protein expression level of GNG2 alone inhibits proliferation of malignant melanoma cells in vitro and in vivo, suggesting that GNG2 could be a novel molecular target for malignant melanoma therapy.", "output": {"entities": {"gene": [{"text": "GNG2", "start": 78, "end": 82}], "disease": [{"text": "malignant melanoma", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We conclude that adenoviral-mediated VEGF overexpression in the lungs attenuates development of hypoxic PH, in part by protecting endothelium-dependent function.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 37, "end": 41}], "disease": [{"text": "hypoxic", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Since PPARγ is known to be regulated by hypoxia in adipose tissue, we hypothesized that there may be a link between oxygen tension, PPARγ expression, and trophoblast differentiation.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 6, "end": 11}], "disease": [{"text": "hypoxia", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.", "output": {"entities": {"gene": [{"text": "HsSAS-6", "start": 42, "end": 49}], "disease": [{"text": "autosomal recessive primary microcephaly", "start": 57, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HsSAS-6", "start": 42, "end": 49}, "tail": {"text": "autosomal recessive primary microcephaly", "start": 57, "end": 97}}]}}, "schema": []}
{"input": "Our findings suggest a central role for Fgd1 in the focal degradation of the ECM in vitro and, for the first time, show a connection between Fgd1 and cancer progression, proposing that it might function during tumorigenesis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 77, "end": 80}], "disease": [{"text": "tumorigenesis", "start": 210, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Docetaxel and epirubicin supported by granulocyte colony-stimulating factor first-line in advanced breast cancer.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 38, "end": 75}], "disease": [{"text": "breast cancer", "start": 99, "end": 112}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 38, "end": 75}, "tail": {"text": "breast cancer", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "Here, we report on the role of the BH4 domain in bcl-2 functions, by showing that removal of or mutations at the BH4 domain abrogate the ability of bcl-2 to induce VEGF protein expression and transcriptional activity under hypoxia in human melanoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 164, "end": 168}], "disease": [{"text": "hypoxia", "start": 223, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.", "output": {"entities": {"gene": [{"text": "CYP4V2", "start": 18, "end": 24}], "disease": [{"text": "Bietti crystalline corneoretinal dystrophy", "start": 86, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP4V2", "start": 18, "end": 24}, "tail": {"text": "Bietti crystalline corneoretinal dystrophy", "start": 86, "end": 128}}]}}, "schema": []}
{"input": "This report concerns a male with a SGBS1, carrier of a GPC3 pathogenic mutation, and neonatal liver disease, who developed an early biliary cirrhosis.", "output": {"entities": {"gene": [{"text": "GPC3", "start": 55, "end": 59}], "disease": [{"text": "biliary cirrhosis", "start": 132, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Klkb1 (-/-) mice have delayed carotid artery occlusion times on the rose bengal and ferric chloride thrombosis models.", "output": {"entities": {"gene": [{"text": "Klkb1", "start": 0, "end": 5}], "disease": [{"text": "carotid artery occlusion", "start": 30, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The functional relationship between IGFBP-6 and vascular endothelial growth factor (VEGF), a major hypoxia-inducible angiogenic molecule, was examined.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 84, "end": 88}], "disease": [{"text": "hypoxia", "start": 99, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We searched for a mutation associated with narcolepsy in the promoter region of the TNF alpha gene by single-strand conformation polymorphism analysis.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 88, "end": 98}], "disease": [{"text": "narcolepsy", "start": 43, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 17, "end": 25}], "disease": [{"text": "sporadic", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.", "output": {"entities": {"gene": [{"text": "SEC23B", "start": 55, "end": 61}], "disease": [{"text": "congenital dyserythropoietic anemia type II", "start": 68, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEC23B", "start": 55, "end": 61}, "tail": {"text": "congenital dyserythropoietic anemia type II", "start": 68, "end": 111}}]}}, "schema": []}
{"input": "Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.", "output": {"entities": {"gene": [{"text": "PCCB", "start": 41, "end": 45}], "disease": [{"text": "propionic acidemia", "start": 63, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCCB", "start": 41, "end": 45}, "tail": {"text": "propionic acidemia", "start": 63, "end": 81}}]}}, "schema": []}
{"input": "We have assessed evidence for linkage and association involving polymorphisms in 10 circadian clock genes (ARNTL, CLOCK, CRY2, CSNK1epsilon, DBP, GSK3beta, NPAS2, PER1, PER2, and PER3) to BPAD.", "output": {"entities": {"gene": [{"text": "CRY2", "start": 121, "end": 125}], "disease": [{"text": "BPAD", "start": 188, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRY2", "start": 121, "end": 125}, "tail": {"text": "BPAD", "start": 188, "end": 192}}]}}, "schema": []}
{"input": "SNPs in the 5' genomic region in ITK, which show moderate linkage disequilibrium with those in TIM 3, had an independent effect on atopy.", "output": {"entities": {"gene": [{"text": "TIM", "start": 95, "end": 98}], "disease": [{"text": "atopy", "start": 131, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Fasting plasma glucose (FPG), postprandial plasma glucose (PPG), glycated hemoglobin (HbAlc), fasting serum insulin (FINS), postprandial serum insulin (PINS), homeostasis model assessment for insulin resistance (HOMA-IR), serum triglyceride, total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-c), and high-density lipoprotein-cholesterol (HDL-c) were determined before and after repaglinide treatment.", "output": {"entities": {"gene": [{"text": "PINS", "start": 152, "end": 156}], "disease": [{"text": "insulin resistance", "start": 192, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "A genetic basis has been identified linking the disease to mutations in KCNH2 in the familial forms and a mutation in KCNQ1 in a sporadic form of the disease.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 118, "end": 123}], "disease": [{"text": "sporadic", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, MBL genotype modulates arterial stiffness, an important cardiovascular risk factor, in children after KD.", "output": {"entities": {"gene": [{"text": "MBL", "start": 15, "end": 18}], "disease": [{"text": "arterial stiffness", "start": 38, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In parallel studies, human pulmonary artery endothelial cells (HPAECs) were exposed to control (21% O2) or hypoxic (1% O2) conditions for 72 h. Hypoxia increased HPAEC proliferation, miR-27a and ET-1 expression, and reduced PPARγ expression.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 224, "end": 229}], "disease": [{"text": "hypoxic", "start": 107, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We exposed U87 cells and mice bearing U87 glioma to experimentally imposed cycling or non-interrupted hypoxic stress in vitro and in vivo prior to treatment with ionizing irradiation.", "output": {"entities": {"gene": [{"text": "U87", "start": 11, "end": 14}], "disease": [{"text": "glioma", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "To study the correlation between a pentanucleotide repeats (PNR) polymorphism of APOA and the genesis of intracranial aneurysm.", "output": {"entities": {"gene": [{"text": "PNR", "start": 60, "end": 63}], "disease": [{"text": "intracranial aneurysm", "start": 105, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Myhre syndrome and the allelic laryngeal stenosis, arthropathy, prognathism and short stature syndrome are caused by a missense mutation of SMAD4, resulting in altered expression of transforming growth factor β and bone morphogenic protein, affecting cell growth and differentiation.", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 140, "end": 145}], "disease": [{"text": "laryngeal stenosis", "start": 31, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c. 1945C & gt; T [p. Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome).", "output": {"entities": {"gene": [{"text": "PIK3R1", "start": 59, "end": 65}], "disease": [{"text": "SHORT syndrome", "start": 242, "end": 256}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIK3R1", "start": 59, "end": 65}, "tail": {"text": "SHORT syndrome", "start": 242, "end": 256}}]}}, "schema": []}
{"input": "Lung pathological analysis revealed that TNF/LT deficiency reduced CAP exposure-induced pulmonary inflammation.", "output": {"entities": {"gene": [{"text": "TNF", "start": 41, "end": 44}], "disease": [{"text": "pulmonary inflammation", "start": 88, "end": 110}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TNF", "start": 41, "end": 44}, "tail": {"text": "pulmonary inflammation", "start": 88, "end": 110}}]}}, "schema": []}
{"input": "The aim of the present study was to investigate alterations of DNA methylation in the dopamine D2 receptor (DRD2)-gene in participants with pathologic gambling behavior.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 108, "end": 112}], "disease": [{"text": "gambling", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Combined GADD45A and thymidine phosphorylase expression levels predict response and survival of neoadjuvant-treated gastric cancer patients.", "output": {"entities": {"gene": [{"text": "GADD45A", "start": 9, "end": 16}], "disease": [{"text": "gastric cancer", "start": 116, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GADD45A", "start": 9, "end": 16}, "tail": {"text": "gastric cancer", "start": 116, "end": 130}}]}}, "schema": []}
{"input": "Here we show that wild-type MPL expression is increased in a fraction of human AML samples expressing RUNX1-ETO, a fusion protein created by chromosome translocation t (8; 21), and that up-regulation of Mpl expression in mice induces AML when coexpressed with RUNX1-ETO.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 102, "end": 107}], "disease": [{"text": "chromosome translocation", "start": 141, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Infecting cells with adenovirus encoding constitutively active RhoA (L63) and measuring absolute amounts of RhoA-GTP in infected cells demonstrated that the lack of RhoA (L63)-induced DNA synthesis in IQGAP1-depleted cells was not due to reduced GTP-bound RhoA.", "output": {"entities": {"gene": [{"text": "IQGAP1", "start": 201, "end": 207}], "disease": [{"text": "adenovirus", "start": 21, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Here we describe two unrelated individuals who have pathogenic variants in FUK and who presented with severe developmental delays, encephalopathy, intractable seizures, and hypotonia.", "output": {"entities": {"gene": [{"text": "FUK", "start": 75, "end": 78}], "disease": [{"text": "hypotonia", "start": 173, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FUK", "start": 75, "end": 78}, "tail": {"text": "hypotonia", "start": 173, "end": 182}}]}}, "schema": []}
{"input": "SP1 protein and mRNA were reduced in the prefrontal cortex in schizophrenia whereas none of Sp factors were altered in the cerebellum.", "output": {"entities": {"gene": [{"text": "SP1", "start": 0, "end": 3}], "disease": [{"text": "schizophrenia", "start": 62, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SP1", "start": 0, "end": 3}, "tail": {"text": "schizophrenia", "start": 62, "end": 75}}]}}, "schema": []}
{"input": "In order to evaluate bcl-2 expression in both follicular B-lymphomas carrying or not carrying the 14; 18 translocation and in lymphatic leukemias, we optimized an internal standard-based method of reverse transcriptase-polymerase chain reaction (RT-PCR) for the rapid quantitation of bcl-2 mRNA cellular levels.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 21, "end": 26}], "disease": [{"text": "translocation", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We determined the expression of MT1/2 and MT3 in prostate carcinoma cells by immunoblotting assays or real-time reverse transcription-polymerase chain reactions.", "output": {"entities": {"gene": [{"text": "MT3", "start": 42, "end": 45}], "disease": [{"text": "prostate carcinoma", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Two enzymes involved in the phospholipase C signalling system, namely the myo-inositol monophosphatase (IMPase) and the inositol polyphosphate 1-phosphatase (IPPase), have been postulated as targets for the therapeutic action of lithium in manic-depressive illness.", "output": {"entities": {"gene": [{"text": "IMPase", "start": 104, "end": 110}], "disease": [{"text": "manic-depressive illness", "start": 240, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "IFN was effective in controlling purpura (80%) but was moderately effective on severe haematuria/proteinuria, renal insufficiency and neuropathy.", "output": {"entities": {"gene": [{"text": "IFN", "start": 0, "end": 3}], "disease": [{"text": "purpura", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "This induction of VEGF was comparable to, if not greater than, that found after exposure of cells to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 18, "end": 22}], "disease": [{"text": "hypoxia", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In addition, we used an in vitro model of defective MMR to demonstrate that microsatellite instability can be induced in an otherwise stable cancer cell line by transfection with a dominant negative fragment of PMS2.", "output": {"entities": {"gene": [{"text": "MMR", "start": 52, "end": 55}], "disease": [{"text": "microsatellite instability", "start": 76, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The sensitivity of GP5/GP6 was 74% with cold-start PCR and 78% with hot-start PCR.", "output": {"entities": {"gene": [{"text": "GP6", "start": 23, "end": 26}], "disease": [{"text": "cold", "start": 40, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "It was shown that obesity with normal insulin sensitivity enhances the expression of IRS1, RIPK2, IL13RA2, RSPO1, IQSEC, and CCN2 genes but decreases the expression level IRS2 and DNAJC15 genes in the blood cells as compared to control group.", "output": {"entities": {"gene": [{"text": "RIPK2", "start": 91, "end": 96}], "disease": [{"text": "obesity", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The expression of these molecules, the activity of mitochondrial dehydrogenase and PDC, and their alterations by starvation, a treatment used to induce PGC-1α expression, were examined in cultured human biliary epithelial cells (BECs).", "output": {"entities": {"gene": [{"text": "PGC-1α", "start": 152, "end": 158}], "disease": [{"text": "starvation", "start": 113, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The hypoxic stimuli were not responsible for Ang-2 upregulation, unlike that of VEGF, in human HCC cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 80, "end": 84}], "disease": [{"text": "hypoxic", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "MiroRNA-9 (miR-9) targeted NF-κB1, and miR-9 inhibitor also reversed the effects of BANCR on gastric cancer cell growth and apoptosis.", "output": {"entities": {"gene": [{"text": "BANCR", "start": 84, "end": 89}], "disease": [{"text": "gastric cancer", "start": 93, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "HIF-1 and VEGF proteins in MDA-MB-343 cells were significantly downregulated upon the efficient knockdown of OPN expression under either hypoxia or normoxia environment.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 10, "end": 14}], "disease": [{"text": "hypoxia", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Obesity-induced weight gain, increase in fasting blood glucose and insulin levels, and augmented expression of gluconeogenic genes were restored to normal only 3 months after AAV treatment.", "output": {"entities": {"gene": [{"text": "AAV", "start": 175, "end": 178}], "disease": [{"text": "weight gain", "start": 16, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "No correlation was found between the reduced GLP-1R expression and clinical parameters including body mass index, age, glycosylated hemoglobin, and disease duration.", "output": {"entities": {"gene": [{"text": "GLP-1R", "start": 45, "end": 51}], "disease": [{"text": "hemoglobin", "start": 132, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "YB-1 and G3BP1 expression are highly correlated in human sarcomas, and elevated G3BP1 expression correlates with poor survival.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 0, "end": 4}], "disease": [{"text": "sarcomas", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.", "output": {"entities": {"gene": [{"text": "CYP19A1", "start": 111, "end": 118}], "disease": [{"text": "Aromatase excess syndrome", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP19A1", "start": 111, "end": 118}, "tail": {"text": "Aromatase excess syndrome", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "Similarly, methotrexate (MTX) is a first-line chemotherapy used to treat choriocarcinoma; although ~ 30% of patients are drug-resistant for MTX mono-therapy.", "output": {"entities": {"gene": [{"text": "MTX", "start": 25, "end": 28}], "disease": [{"text": "mono", "start": 144, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Imbalance between oxidative stress and helper T-cell (Th1)-derived cytokines is one possible cause for the pathogenesis of systemic lupus erythematosus (SLE).", "output": {"entities": {"gene": [{"text": "Th1", "start": 54, "end": 57}], "disease": [{"text": "systemic lupus erythematosus", "start": 123, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "In hypoleptinemic diabetic rats with 4. 5-fold higher blood glucose and 15% lower body weight than controls, GALP mRNA levels in the ARC were decreased by 90%, while NPY mRNA levels were increased 9-fold (n = 5, p < 0. 001).", "output": {"entities": {"gene": [{"text": "GALP", "start": 109, "end": 113}], "disease": [{"text": "body weight", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Fifty-seven HIV-tuberculosis (TB)-coinfected and 15 HIV-1-infected patients receiving combination antiretroviral therapy (CART) with an efavirenz (600 mg once daily)-containing regimen were recruited.", "output": {"entities": {"gene": [{"text": "CART", "start": 122, "end": 126}], "disease": [{"text": "tuberculosis", "start": 16, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The 14; 18 chromosome translocation, characteristic of most human follicular B-cell lymphomas, juxtaposes the bcl-2 gene with the IgH locus, creating a bcl-2/IgH hybrid gene.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 110, "end": 115}], "disease": [{"text": "chromosome translocation", "start": 11, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "In this study, we tested the hypothesis that mutations in the GABRA1, GABRB3, and GABRG2 genes encoding the alpha1, beta3, and gamma subunits of the GABA (A) receptor are involved in familial primary dystonia.", "output": {"entities": {"gene": [{"text": "GABRB3", "start": 70, "end": 76}], "disease": [{"text": "primary dystonia", "start": 192, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the association between Cytosine-Adenosine (CA) 10-24 repeats polymorphism in promoter region of the IGF-I gene and early growth in infants with birth weight appropriate for gestational age (AGA) and small for gestational age (SGA).", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 113, "end": 118}], "disease": [{"text": "birth weight", "start": 157, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Synovial sarcomas (SS) are characterized by a chromosomal translocation t (X; 18) (p11. 2; q11. 2) which usually fuses the SYT gene from chromosome 18 to SSX1 or SSX2 genes on chromosome X.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 162, "end": 166}], "disease": [{"text": "chromosomal translocation", "start": 46, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins.", "output": {"entities": {"gene": [{"text": "Rag-1", "start": 228, "end": 233}], "disease": [{"text": "Omenn syndrome", "start": 34, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Rag-1", "start": 228, "end": 233}, "tail": {"text": "Omenn syndrome", "start": 34, "end": 48}}]}}, "schema": []}
{"input": "With a regression model we explained 60. 0% of variability in warfarin dose, which was due to gene polymorphisms (CYP2C9, VKORC1), age and body-surface-area.", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 114, "end": 120}], "disease": [{"text": "regression", "start": 7, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The Ala54Thr/Thr54Thr group compared with the Ala54Ala group showed significant decreases in the parameters of weight (-7. 5 versus-4. 2 kg), body mass index (-2. 1 versus-1. 2 kg/m (2)), waist circumference (-7. 6 versus-5. 2 cm), waist-to-hip ratio (-0. 04 versus-0. 02), and C-reactive protein (-1. 4 versus-0. 76 mg/L), respectively (P < 0. 05).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 278, "end": 296}], "disease": [{"text": "waist-to-hip ratio", "start": 232, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "PARP2 levels were unchanged between normal and tumor tissues and few tumors showed overexpression of PARG (3. 8%) or ARH3 (3. 4%).", "output": {"entities": {"gene": [{"text": "ARH3", "start": 117, "end": 121}], "disease": [{"text": "tumors", "start": 69, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Using lentiviral delivery of Sox2 specifically to the mouse lung, we tested the ability of Sox2 to promote tumorigenesis in multiple tumor suppressor backgrounds.", "output": {"entities": {"gene": [{"text": "Sox2", "start": 29, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that IL-10 and IL-13 contribute to the pathogenesis of PSS and might explain the B cell abnormalities and the development of lymphoma observed in this autoimmune disease.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 35, "end": 40}], "disease": [{"text": "abnormalities", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Common genetic polymorphisms within the promoter and exonic sequences of CYBA, the gene that encodes the p22 (phox) subunit of NADPH oxidase, have been characterized in the context of cardiovascular diseases.", "output": {"entities": {"gene": [{"text": "p22", "start": 105, "end": 108}], "disease": [{"text": "cardiovascular diseases", "start": 184, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Infusion of angiotensin II resulted in an increase in mean arterial pressure, serum aldosterone levels and GFR, and in a decrease in RPF (all P < 0. 001).", "output": {"entities": {"gene": [{"text": "GFR", "start": 107, "end": 110}], "disease": [{"text": "mean arterial pressure", "start": 54, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Biallelic mutations in & lt; i & gt; USP45, & lt;/i & gt; encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis.", "output": {"entities": {"gene": [{"text": "USP45", "start": 37, "end": 42}], "disease": [{"text": "Leber congenital amaurosis", "start": 114, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USP45", "start": 37, "end": 42}, "tail": {"text": "Leber congenital amaurosis", "start": 114, "end": 140}}]}}, "schema": []}
{"input": "Human U87 MG glioma cells were transduced with AdCMV-TK75 and exposed to ACV followed by single-dose irradiation and colony-forming survival assays.", "output": {"entities": {"gene": [{"text": "U87", "start": 6, "end": 9}], "disease": [{"text": "glioma", "start": 13, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Thiazide therapy for ACTH-induced hypercalciuria and nephrolithiasis.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 21, "end": 25}], "disease": [{"text": "nephrolithiasis", "start": 53, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 21, "end": 25}, "tail": {"text": "nephrolithiasis", "start": 53, "end": 68}}]}}, "schema": []}
{"input": "However, the roles of other genes, such as CSF3 (colony stimulating factor 3 receptor), CD40, TNFSF14 (tumor necrosis factor receptor superfamily, member 14), IFNB1 (interferon-β1), TIRAP (toll-interleukin 1 receptor domain containing adaptor protein), IL2RA (interleukin 2 receptor α), ETS1 (v-ets avian erythroblastosis virus E26 oncogene homolog 1), GADD45B (growth arrest and DNA-damage-inducible 45 β), BIRC3 (baculoviral IAP repeat containing 3), VAV1 (vav 1 guanine nucleotide exchange factor), COL5A1 (collagen, type V, α1), and C3 (complement component 3), have not been investigated thoroughly in the process of periodontitis.", "output": {"entities": {"gene": [{"text": "TNFSF14", "start": 94, "end": 101}], "disease": [{"text": "periodontitis", "start": 622, "end": 635}]}, "relations": {}}, "schema": []}
{"input": "Periostin interacts with multiple cell-surface receptors, most notably integrins, and signals mainly via the PI3-K/Akt and other pathways to promote cancer cell survival, epithelial-mesenchymal transition (EMT), invasion, and metastasis.", "output": {"entities": {"gene": [{"text": "PI3", "start": 109, "end": 112}], "disease": [{"text": "metastasis", "start": 226, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "We detected four 3' UTR variants (c. * 48 G > A, c. * 59 G > A, c. * 108 C > T and c. * 110 G > A) in four sporadic and in one familial ALS patients compared with none in controls (P = 0. 02). We investigated whether these variants impaired FUS expression in primary fibroblast cultures from three patients harbouring the c. * 59 G > A, c. * 108 C > T and c. * 110 G > A variants, respectively.", "output": {"entities": {"gene": [{"text": "FUS", "start": 241, "end": 244}], "disease": [{"text": "sporadic", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of CTGF is linked to many fibrotic diseases, but its exact role in airway remodelling is unknown.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 18, "end": 22}], "disease": [{"text": "airway remodelling", "start": 82, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia.", "output": {"entities": {"gene": [{"text": "matriptase-2", "start": 23, "end": 35}], "disease": [{"text": "iron-refractory iron deficiency anemia", "start": 96, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "matriptase-2", "start": 23, "end": 35}, "tail": {"text": "iron-refractory iron deficiency anemia", "start": 96, "end": 134}}]}}, "schema": []}
{"input": "We have analysed the association of single-nucleotide polymorphisms (SNPs) in CD40 and CD40L genes with bone mineral density (BMD) in our women.", "output": {"entities": {"gene": [{"text": "CD40", "start": 78, "end": 82}], "disease": [{"text": "bone mineral density", "start": 104, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Analysis of HOXD1, MYC, TIPARP and SKAP1 at these loci and of BNC2 at 9p22 supports a functional role for these genes in ovarian cancer development.", "output": {"entities": {"gene": [{"text": "MYC", "start": 19, "end": 22}], "disease": [{"text": "ovarian cancer", "start": 121, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYC", "start": 19, "end": 22}, "tail": {"text": "ovarian cancer", "start": 121, "end": 135}}]}}, "schema": []}
{"input": "These Hdac3-deficient mice have reduced bone formation and lower circulating levels of total and undercarboxylated osteocalcin, coupled with decreased bone resorption activity.", "output": {"entities": {"gene": [{"text": "Hdac3", "start": 6, "end": 11}], "disease": [{"text": "bone resorption", "start": 151, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Consistent with the RNA expression profiles, Active cancer-adjacent tissues exhibited higher density of TWIST nuclear staining, predominantly in epithelium, and no evidence of increased fibrosis.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 104, "end": 109}], "disease": [{"text": "fibrosis", "start": 186, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "In this review, we summarize a growing body of preclinical and clinical data that indicate that while NEDD9 is itself non-oncogenic, changes in expression of NEDD9 (most commonly elevation of expression) are common features of tumors, and directly impact tumor aggressiveness, metastasis, and response to at least some targeted agents inhibiting NEDD9-interacting proteins.", "output": {"entities": {"gene": [{"text": "NEDD9", "start": 102, "end": 107}], "disease": [{"text": "aggressiveness", "start": 261, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "WDR4 maps between PDE9A and NDUFV3, a region where several genetic disorders, including a form of manic-depressive psychosis, also map, and seven sequence variants observed in the WDR4 gene could be used in association studies.", "output": {"entities": {"gene": [{"text": "PDE9A", "start": 18, "end": 23}], "disease": [{"text": "manic-depressive psychosis", "start": 98, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE9A", "start": 18, "end": 23}, "tail": {"text": "manic-depressive psychosis", "start": 98, "end": 124}}]}}, "schema": []}
{"input": "In children with recurring otitis media, MEF samples were positive for HPeV in 15% of episodes.", "output": {"entities": {"gene": [{"text": "MEF", "start": 41, "end": 44}], "disease": [{"text": "otitis media", "start": 27, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We investigated the methylation status in the promoter regions of the CDKN2A/p16, hMLH1, and MGMT genes in human non-neoplastic rectal mucosa and evaluated whether these methylation markers may predict the presence of adenomatous polyps in the colon.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 93, "end": 97}], "disease": [{"text": "non-neoplastic", "start": 113, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxia, the induction by macrophages for IL-8 expression was increased significantly in distant metastatic cell lines NCI-N87 and HS-746T, VEGF-A was increased in HGC-27 cell line.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 146, "end": 152}], "disease": [{"text": "hypoxia", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Because the mRNA expression of cyclooxygenase-2 (COX-2) is up-regulated by arecoline in human gingival fibroblasts, as shown in our previous study, we further investigated the mRNA expression level of COX-2 and its upstream effectors in three oral epithelial carcinoma cell lines (KB, SAS, and Ca9-22) by using areca nut extract (ANE) and saliva-reacted ANE (sANE).", "output": {"entities": {"gene": [{"text": "SAS", "start": 285, "end": 288}], "disease": [{"text": "epithelial carcinoma", "start": 248, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that hypertension in IEX-1 knockout mice may arise primarily from impaired cAMP signaling induced by overproduction of mitochondrial reactive oxygen species in vascular smooth muscle cells and demonstrate a causal relationship between mitochondrial dysfunction and cAMP-dependent vasorelaxation.", "output": {"entities": {"gene": [{"text": "IEX-1", "start": 41, "end": 46}], "disease": [{"text": "hypertension", "start": 25, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IEX-1", "start": 41, "end": 46}, "tail": {"text": "hypertension", "start": 25, "end": 37}}]}}, "schema": []}
{"input": "TAT-CARP-1 (1-198) as well as (896-1150) peptides also suppressed growth of WSU-DLCL2 cell-derived tumor xenografts in SCID mice, while administration of TAT-CARP-1 (1-198) also inhibited growth of WSU-FSCCL cell-derived ascites and prolonged host survival.", "output": {"entities": {"gene": [{"text": "CARP-1", "start": 4, "end": 10}], "disease": [{"text": "ascites", "start": 221, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Conversely, with the \" knockdown \" of ras and RPS2 in malignant PC-3ML cells (i. e., in pLKO. TRC. shRNA. ras. PC3-ML, pLKO. TRC. shRNA. RPS2. PC-3ML transfected cells), there was both a loss of these functions and a loss of tumorigenesis in SCID mice.", "output": {"entities": {"gene": [{"text": "RPS2", "start": 46, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 225, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the K2e gene involving five different residue positions (Q187P, T485P, L490P, E493D, E493K and E494K) are known to cause ichthyosis bullosa of Siemens.", "output": {"entities": {"gene": [{"text": "K2e", "start": 17, "end": 20}], "disease": [{"text": "ichthyosis bullosa of Siemens", "start": 134, "end": 163}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K2e", "start": 17, "end": 20}, "tail": {"text": "ichthyosis bullosa of Siemens", "start": 134, "end": 163}}]}}, "schema": []}
{"input": "Immunohistochemistry was used to analyse expression of key HR pathway proteins (ATM, ATR, BRCA1, MDC1, MRE11) and PARP-1 in 100 serous ovarian cancer (SOC) and 100 triple-negative breast cancer (TNBC) tumour samples from Japanese patients.", "output": {"entities": {"gene": [{"text": "SOC", "start": 151, "end": 154}], "disease": [{"text": "triple-negative breast cancer", "start": 164, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "None of BIRC5, FGFR3, IGF2, KRT20, UPK2, EBF1, CDH1, FXYD3, HTERT, TP53, AGR2, HER2 and VEGF were correlated either tumour progression or survival.", "output": {"entities": {"gene": [{"text": "FXYD3", "start": 53, "end": 58}], "disease": [{"text": "tumour progression", "start": 116, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Thus, to clarify genetic alterations in the early stage of pancreatic carcinogenesis, we analyzed K-ras gene mutations and loss of heterozygosity (LOH) at the p53 gene locus using 37 cases of MPTs harboring dysplastic epithelium.", "output": {"entities": {"gene": [{"text": "MPTs", "start": 192, "end": 196}], "disease": [{"text": "carcinogenesis", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Here, we designed an antibody mimetic fused with diphtheria toxin to target the U87 MG glioma cell line.", "output": {"entities": {"gene": [{"text": "U87", "start": 80, "end": 83}], "disease": [{"text": "glioma", "start": 87, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Since there is a pathophysiological link between SIRT1 and PGC-1alpha and mitochondrial energy, the implication of the study is that mitochondrial dysfunction due to alcohol abuse can be treated by dietary modifications.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 49, "end": 54}], "disease": [{"text": "alcohol abuse", "start": 166, "end": 179}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT1", "start": 49, "end": 54}, "tail": {"text": "alcohol abuse", "start": 166, "end": 179}}]}}, "schema": []}
{"input": "By CCK-8 assay and flow cytometry assay, overexpression of SULT1E1 and PAPSS1 by adenovirus blocked the estrogen pro-proliferating effect and promoted cell apoptosis induced by H (2) O (2) in MCF-7 cells.", "output": {"entities": {"gene": [{"text": "SULT1E1", "start": 59, "end": 66}], "disease": [{"text": "adenovirus", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Macrophage production of VEGF is upregulated by hypoxia and TGFbeta-1, both of which occur in the tumor environment.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 25, "end": 29}], "disease": [{"text": "hypoxia", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.", "output": {"entities": {"gene": [{"text": "RET", "start": 98, "end": 101}], "disease": [{"text": "multiple endocrine neoplasia type 2A", "start": 16, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 98, "end": 101}, "tail": {"text": "multiple endocrine neoplasia type 2A", "start": 16, "end": 52}}]}}, "schema": []}
{"input": "We conclude that differential expression of MS4A1 in this comparative gene expression study of ARLC-SCC versus NARLC-SCC is a stromal signal of uncertain significance, and an example of the rationale for tumor cell enrichment in preparation for gene expression studies where the aim is to identify markers of particular tumor phenotypes.", "output": {"entities": {"gene": [{"text": "MS4A1", "start": 44, "end": 49}], "disease": [{"text": "ARLC-SCC", "start": 95, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MS4A1", "start": 44, "end": 49}, "tail": {"text": "ARLC-SCC", "start": 95, "end": 103}}]}}, "schema": []}
{"input": "NME1 suppression promotes growth, adhesion and implantation of endometrial stromal cells via Akt and MAPK/Erk1/2 signal pathways in the endometriotic milieu.", "output": {"entities": {"gene": [{"text": "Erk1", "start": 106, "end": 110}], "disease": [{"text": "adhesion", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Individuals affected with the neurofibromatosis 1 (NF1) tumor predisposition syndrome are prone to the development of multiple nervous system tumors, including optic pathway gliomas (OPG).", "output": {"entities": {"gene": [{"text": "OPG", "start": 183, "end": 186}], "disease": [{"text": "tumor predisposition syndrome", "start": 56, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 0, "end": 4}], "disease": [{"text": "autosomal dominant optic atrophy", "start": 55, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 0, "end": 4}, "tail": {"text": "autosomal dominant optic atrophy", "start": 55, "end": 87}}]}}, "schema": []}
{"input": "Retinoic acid-related Orphan Receptor alpha (RORα; NR1F1) is a widely distributed nuclear receptor involved in several (patho) physiological functions including lipid metabolism, inflammation, angiogenesis, and circadian rhythm.", "output": {"entities": {"gene": [{"text": "NR1F1", "start": 51, "end": 56}], "disease": [{"text": "circadian rhythm", "start": 211, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "A mutated transketolase transcript (TKTL1) has been found up-regulated in different human malignancies, and strong TKTL1 protein expression has been associated with aggressiveness and poor patient survival in several epithelial cancers.", "output": {"entities": {"gene": [{"text": "TKTL1", "start": 36, "end": 41}], "disease": [{"text": "aggressiveness", "start": 165, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Mutant Huntingtin induces activation of the Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3).", "output": {"entities": {"gene": [{"text": "BNip3", "start": 93, "end": 98}], "disease": [{"text": "adenovirus", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "], retinal ganglion cell death, and axonal degeneration) closely resembling those seen in patients with POAG caused by the Y437H MYOC mutation.", "output": {"entities": {"gene": [{"text": "MYOC", "start": 129, "end": 133}], "disease": [{"text": "axonal degeneration", "start": 36, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Carvedilol reduced collagen I, III and fibronectin by 40/60/35% (0. 1 microM; P & lt; 0. 001) irrespective of LVH.", "output": {"entities": {"gene": [{"text": "fibronectin", "start": 39, "end": 50}], "disease": [{"text": "LVH", "start": 110, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "fibronectin", "start": 39, "end": 50}, "tail": {"text": "LVH", "start": 110, "end": 113}}]}}, "schema": []}
{"input": "In light of the evidence for linkage between the chromosomal location of the CDKN1B gene (12p13) and prostate cancer susceptibility in several hereditary prostate cancer (HPC) populations, we hypothesized that sequence variants of CDKN1B play a role in HPC.", "output": {"entities": {"gene": [{"text": "CDKN1B", "start": 77, "end": 83}], "disease": [{"text": "prostate cancer susceptibility", "start": 101, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Arousal from sleep was diminished, and breathing drives accentuated in mutant mice indicating that these protective responses are partially regulated by beta2-containing nAChRs.", "output": {"entities": {"gene": [{"text": "beta2", "start": 153, "end": 158}], "disease": [{"text": "breathing", "start": 39, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Importantly, DIO3 silencing was associated with decreases in cell proliferation, thus suggesting a D3 role in tumor growth and aggressiveness.", "output": {"entities": {"gene": [{"text": "DIO3", "start": 13, "end": 17}], "disease": [{"text": "aggressiveness", "start": 127, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The methylation status of eleven genes (ADAMTS1, CDKN2A, CRABP1, HOXA9, MAL, MGMT, MLH1, NR3C1, PTEN, RUNX3, and SCGB3A1) was determined in 154 tissue samples including normal mucosa, adenomas, and carcinomas of the colorectum.", "output": {"entities": {"gene": [{"text": "ADAMTS1", "start": 40, "end": 47}], "disease": [{"text": "carcinomas", "start": 198, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "CNNM1", "start": 69, "end": 74}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNNM1", "start": 69, "end": 74}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "These K14/IL-7 mice develop dermal and epidermal T cell infiltrates associated with alopecia.", "output": {"entities": {"gene": [{"text": "K14", "start": 6, "end": 9}], "disease": [{"text": "alopecia", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "During hypoxia a significant upregulation of in VEGF mRNA, GLUT-1 mRNA, and Glut-1 and-3 protein occurred with a distinctly different time course in the two cell lines.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 48, "end": 52}], "disease": [{"text": "hypoxia", "start": 7, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Prooxidant states were found in white blood cells and body fluids from FA patients as excess luminol-dependent chemiluminescence, 8-hydroxy-deoxyguanosine, reduced glutathione/oxidized glutathione imbalance, and tumour necrosis factor-& #945;.", "output": {"entities": {"gene": [{"text": "tumour necrosis factor", "start": 212, "end": 234}], "disease": [{"text": "FA", "start": 71, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumour necrosis factor", "start": 212, "end": 234}, "tail": {"text": "FA", "start": 71, "end": 73}}]}}, "schema": []}
{"input": "Our aim was to characterize the molecular and genotypic profile of eight thyroid carcinoma-derived cell lines-TPC1, FB2, B-CPAP, K1, XTC-1, C643, 8505C, and Hth74-in order to use them as in vitro models of thyroid carcinogenesis.", "output": {"entities": {"gene": [{"text": "CPAP", "start": 123, "end": 127}], "disease": [{"text": "carcinogenesis", "start": 214, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "This is to our knowledge the first demonstration of a PAH missense variant with no apparent association to PAH deficiency.", "output": {"entities": {"gene": [{"text": "PAH", "start": 54, "end": 57}], "disease": [{"text": "PAH deficiency", "start": 107, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAH", "start": 54, "end": 57}, "tail": {"text": "PAH deficiency", "start": 107, "end": 121}}]}}, "schema": []}
{"input": "In the present study, we focused on the localization of apoptosis-inducing factor (AIF), which is an important protein in the signal-transduction system through caspase-independent pathways, to investigate the possible mechanism for the protective effect of HGF after transient forebrain ischemia.", "output": {"entities": {"gene": [{"text": "HGF", "start": 258, "end": 261}], "disease": [{"text": "ischemia", "start": 288, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "GATA-1 platelets within platelets and attached to platelets, as well as giant platelets, suggest that proplatelet formation may be abnormal, or that GATA-1 platelets are unable to pinch off from megakaryocyte proplatelets in a normal manner.", "output": {"entities": {"gene": [{"text": "GATA-1", "start": 0, "end": 6}], "disease": [{"text": "giant platelets", "start": 72, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We conclude that hypoxia plays an important role in human sarcomas but hypoxic up-regulation of VEGF-A expression does not attenuate the efficacy of VEGF-A RNA interference.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 96, "end": 102}], "disease": [{"text": "hypoxic", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Hepatic regulation of VLDL receptor by PPAR & #946;/& #948; and FGF21 modulates non-alcoholic fatty liver disease.", "output": {"entities": {"gene": [{"text": "VLDL receptor", "start": 22, "end": 35}], "disease": [{"text": "non-alcoholic fatty liver disease", "start": 80, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VLDL receptor", "start": 22, "end": 35}, "tail": {"text": "non-alcoholic fatty liver disease", "start": 80, "end": 113}}]}}, "schema": []}
{"input": "EKA/B 10-mers displayed equivalent affinity for the three tachykinin receptors as substance P (SP), whereas a 32-mer N-terminal extended form of EKB was significantly more potent than EKA/B or SP.", "output": {"entities": {"gene": [{"text": "substance P", "start": 82, "end": 93}], "disease": [{"text": "mers", "start": 9, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Adenoviral constructs encoding full length IQGAP1, the C‑terminal fragment of IQGAP1, and the constitutively active RhoC gene were used to infect gastric cancer cells to increase the expression of the proteins.", "output": {"entities": {"gene": [{"text": "RhoC gene", "start": 116, "end": 125}], "disease": [{"text": "gastric cancer", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that a point mutation at codon 569 of MPO gene represents one molecular form of MPO deficiency.", "output": {"entities": {"gene": [{"text": "MPO", "start": 58, "end": 61}], "disease": [{"text": "MPO deficiency", "start": 100, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MPO", "start": 58, "end": 61}, "tail": {"text": "MPO deficiency", "start": 100, "end": 114}}]}}, "schema": []}
{"input": "Polymorphisms in 3' untranslated region (UTR) of cancer-related genes might affect regulation by microRNA (miRNA) and contribute to carcinogenesis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 41, "end": 44}], "disease": [{"text": "carcinogenesis", "start": 132, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "To test whether single nucleotide polymorphisms (SNPs) of the 4 vitamin D family genes (DHCR7, CYP2R1, CYP27B1, and CYP24A1) previously associated with several autoimmune diseases are associated with ocular Behçet disease, Vogt-Koyanagi-Harada (VKH) syndrome, acute anterior uveitis (AAU) with ankylosing spondylitis, or pediatric uveitis in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "CYP2R1", "start": 95, "end": 101}], "disease": [{"text": "acute anterior uveitis", "start": 260, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Our results show that the siRNAs directed against total LMW-PTP and LMW-PTP slow isoform enhanced cell motility in an invasive breast cancer cell line, MDA-MB-435, with no changes in the proliferation and invasive potential of cells.", "output": {"entities": {"gene": [{"text": "LMW-PTP", "start": 56, "end": 63}], "disease": [{"text": "invasive breast cancer", "start": 118, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "In 2011, we conducted this genetic association analysis between 11 SNPs in YWHAE and bipolar disorder, involving a male group and a female group.", "output": {"entities": {"gene": [{"text": "YWHAE", "start": 75, "end": 80}], "disease": [{"text": "bipolar disorder", "start": 85, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "YWHAE", "start": 75, "end": 80}, "tail": {"text": "bipolar disorder", "start": 85, "end": 101}}]}}, "schema": []}
{"input": "Genes associated with immune function (CTLA4, CTSS), reflexive coupling within Schwann cells (GJE1), drug binding (PSMB1), and neuron function (TCF4, DYNC1I1) associated with bortezomib-induced PN in this study.", "output": {"entities": {"gene": [{"text": "TCF4", "start": 144, "end": 148}], "disease": [{"text": "PN", "start": 194, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TCF4", "start": 144, "end": 148}, "tail": {"text": "PN", "start": 194, "end": 196}}]}}, "schema": []}
{"input": "We analyzed the morphology and motility of invasive cancer cells that were treated with exogenous exosomes in the presence or absence of hsp90alpha.", "output": {"entities": {"gene": [{"text": "hsp90alpha", "start": 137, "end": 147}], "disease": [{"text": "invasive cancer", "start": 43, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We also examined periostin expression in neonatal lung mesenchymal stromal cells and lung tissue of hyperoxia-exposed neonatal mice and human infants with BPD.", "output": {"entities": {"gene": [{"text": "periostin", "start": 17, "end": 26}], "disease": [{"text": "BPD", "start": 155, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "periostin", "start": 17, "end": 26}, "tail": {"text": "BPD", "start": 155, "end": 158}}]}}, "schema": []}
{"input": "Serum levels of surfactant protein D are increased in mice with lung tumors.", "output": {"entities": {"gene": [{"text": "surfactant protein D", "start": 16, "end": 36}], "disease": [{"text": "lung tumors", "start": 64, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "surfactant protein D", "start": 16, "end": 36}, "tail": {"text": "lung tumors", "start": 64, "end": 75}}]}}, "schema": []}
{"input": "It was recently demonstrated that phosphorylation of RalA S194 by Aurora A kinase (AAK) is critical for PDAC tumorigenesis.", "output": {"entities": {"gene": [{"text": "RalA", "start": 53, "end": 57}], "disease": [{"text": "tumorigenesis", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with \" mild \" mutation (s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.", "output": {"entities": {"gene": [{"text": "Mitochondrial acetoacetyl-CoA thiolase", "start": 0, "end": 38}], "disease": [{"text": "mild", "start": 85, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "FISH, RT-PCR, and sequence analyses revealed an EWSR1-ATF1 fusion gene that has previously been reported in clear cell sarcoma (CCS), a soft tissue sarcoma that is morphologically and clinically distinct from AFH.", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "clear cell sarcoma", "start": 108, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "A wrist actigraph was worn for 72 h on weekdays to estimate sleep duration or total sleep time (TST), sleep disruption or percentage of wake after sleep onset (WASO) and several circadian rhythm parameters: mesor, amplitude, the ratio of mesor to amplitude (circadian quotient), and 24-h autocorrelation.", "output": {"entities": {"gene": [{"text": "TST", "start": 96, "end": 99}], "disease": [{"text": "circadian rhythm", "start": 178, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Profound left ventricular remodeling associated with LAMP2 cardiomyopathy.", "output": {"entities": {"gene": [{"text": "LAMP2", "start": 53, "end": 58}], "disease": [{"text": "ventricular remodeling", "start": 14, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe two adult brothers with chronic granulomatous disease treated successfully with IFN-gamma for acute liver abscesses.", "output": {"entities": {"gene": [{"text": "IFN", "start": 108, "end": 111}], "disease": [{"text": "chronic granulomatous disease", "start": 52, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, H19 and SNRPN may play significant roles in the tumorigenesis of MMMT and H19 may have tumor-promoting activity in addition to its known tumor-suppressing activity, probably depending on the tissue and the local milieu.", "output": {"entities": {"gene": [{"text": "SNRPN", "start": 23, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "RBP56 has not previously been shown to be involved in tumorigenesis but it encodes a putative RNA-binding protein similar to the EWS and FUS (TLS) proteins known to play a pathogenetic role in several sarcomas.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 94, "end": 113}], "disease": [{"text": "sarcomas", "start": 201, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46, XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries.", "output": {"entities": {"gene": [{"text": "CYP19", "start": 35, "end": 40}], "disease": [{"text": "aromatase deficiency", "start": 62, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP19", "start": 35, "end": 40}, "tail": {"text": "aromatase deficiency", "start": 62, "end": 82}}]}}, "schema": []}
{"input": "This translocation creates a fusion between the acute myelogenous leukemia 1 (AML1, a transcription factor) gene on chromosome 21 and the eight-twenty-one (ETO, a zinc finger nuclear protein) gene on chromosome 8, leading to the repression of certain AML1 target genes.", "output": {"entities": {"gene": [{"text": "AML1", "start": 78, "end": 82}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The amounts of both alpha-fetoprotein mRNA and protein were decreased under hypoxic conditions in HepG2 hepatoma cells.", "output": {"entities": {"gene": [{"text": "alpha-fetoprotein", "start": 20, "end": 37}], "disease": [{"text": "hypoxic", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Given that mammographic density is associated with both IGF levels and breast cancer risk, we also stratified these associations by mammographic density.", "output": {"entities": {"gene": [{"text": "IGF", "start": 56, "end": 59}], "disease": [{"text": "mammographic density", "start": 11, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "We conclude that Bcl-xL expressed in human HCC cells inhibits apoptosis produced by various cellular stresses, such as staurosporine treatment, serum starvation, and p53 activation, and may play an important role in their survival.", "output": {"entities": {"gene": [{"text": "HCC", "start": 43, "end": 46}], "disease": [{"text": "starvation", "start": 150, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "When p27 inactivation has a positive effect on tumorigenesis, de-regulated activation of cyclin-dependent kinases (Cdks) is generally believed to be the underlying mechanism since the function of p27 as an inhibitor of Cdks is firmly established.", "output": {"entities": {"gene": [{"text": "p27", "start": 5, "end": 8}], "disease": [{"text": "tumorigenesis", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of Hsp27, Hsp90 and HspBP1 appears just in case of long-term deteriorated conditions (usually in mild preeclampsia, that enable further continuation of gestation, when properly treated).", "output": {"entities": {"gene": [{"text": "Hsp90", "start": 23, "end": 28}], "disease": [{"text": "preeclampsia", "start": 115, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "RASSF1A, regarded as a TSG, has been extensively studied in lung cancer and other malignant tumors, whereas RASGRF2 has only been reported to possibly play a role in the pathogenesis of pancreatic cancer cell lines.", "output": {"entities": {"gene": [{"text": "RASGRF2", "start": 108, "end": 115}], "disease": [{"text": "pancreatic cancer", "start": 186, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "FGFR2 is an oncogene amplified in diffuse-type gastric cancer, and WDR11 is a tumor suppressor gene disrupted in glial tumor.", "output": {"entities": {"gene": [{"text": "WDR11", "start": 67, "end": 72}], "disease": [{"text": "gastric cancer", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "HCN1 channels: a new therapeutic target for depressive disorders?", "output": {"entities": {"gene": [{"text": "HCN1", "start": 0, "end": 4}], "disease": [{"text": "depressive disorders", "start": 44, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HCN1", "start": 0, "end": 4}, "tail": {"text": "depressive disorders", "start": 44, "end": 64}}]}}, "schema": []}
{"input": "Birds exposed to a combination of LPS + BGL at 7 wk of age had significantly lower secondary total and IgG Ab responses at 13 wk of age.", "output": {"entities": {"gene": [{"text": "BGL", "start": 40, "end": 43}], "disease": [{"text": "secondary", "start": 83, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene.", "output": {"entities": {"gene": [{"text": "GALT", "start": 151, "end": 155}], "disease": [{"text": "Classical galactosemia", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALT", "start": 151, "end": 155}, "tail": {"text": "Classical galactosemia", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "Furthermore mice lacking either tph1 or htr1B, the receptor for serotonin on the osteoblasts, were reported to have an increased bone mass due to increased bone formation.", "output": {"entities": {"gene": [{"text": "tph1", "start": 32, "end": 36}], "disease": [{"text": "bone mass", "start": 129, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Loss of RGS2 also significantly enhanced IL-13-induced mouse airway remodeling, including peribronchial smooth muscle thickening and fibrosis, without effects on goblet cell hyperplasia or airway inflammation in mice.", "output": {"entities": {"gene": [{"text": "RGS2", "start": 8, "end": 12}], "disease": [{"text": "inflammation", "start": 196, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "The potential role of genetic variability of GLP-1R on body weight response to GLP-1 RAs in obese women with polycystic ovary syndrome (PCOS) has not yet been evaluated.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 45, "end": 50}], "disease": [{"text": "body weight", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The YWHAE-FAM22 transcript was detected in six of 50 further CCSKs tested, therefore showing an overall incidence of 12% in our cohort.", "output": {"entities": {"gene": [{"text": "YWHAE", "start": 4, "end": 9}], "disease": [{"text": "CCSK", "start": 61, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "YWHAE", "start": 4, "end": 9}, "tail": {"text": "CCSK", "start": 61, "end": 65}}]}}, "schema": []}
{"input": "The surface density of CD10 was significantly higher on neutrophils from CINCA patients as compared to those of JIA and controls (P & lt; 0. 0005).", "output": {"entities": {"gene": [{"text": "CD10", "start": 23, "end": 27}], "disease": [{"text": "CINCA", "start": 73, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD10", "start": 23, "end": 27}, "tail": {"text": "CINCA", "start": 73, "end": 78}}]}}, "schema": []}
{"input": "Also in humans, ANGPTL4 was unmethylated and expressed in normal mammary epithelial cells, but was methylated in 11 of 91 (12%) primary breast cancers.", "output": {"entities": {"gene": [{"text": "ANGPTL4", "start": 16, "end": 23}], "disease": [{"text": "breast cancers", "start": 136, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANGPTL4", "start": 16, "end": 23}, "tail": {"text": "breast cancers", "start": 136, "end": 150}}]}}, "schema": []}
{"input": "Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.", "output": {"entities": {"gene": [{"text": "KCNQ3", "start": 16, "end": 21}], "disease": [{"text": "benign neonatal epilepsy", "start": 67, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNQ3", "start": 16, "end": 21}, "tail": {"text": "benign neonatal epilepsy", "start": 67, "end": 91}}]}}, "schema": []}
{"input": "Thus, HERV-K10 antibodies are detected frequently with testicular cancer and seem to resolve rapidly with effective therapy of the malignancy.", "output": {"entities": {"gene": [{"text": "K10", "start": 11, "end": 14}], "disease": [{"text": "testicular cancer", "start": 55, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Additionally, we demonstrate that juvenile onset SMARD1 may also be caused by mutations of IGHMBP2.", "output": {"entities": {"gene": [{"text": "IGHMBP2", "start": 91, "end": 98}], "disease": [{"text": "SMARD1", "start": 49, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IGHMBP2", "start": 91, "end": 98}, "tail": {"text": "SMARD1", "start": 49, "end": 55}}]}}, "schema": []}
{"input": "In the present study, stable overexpression of IDH1WT or IDH1R132H was established in the U87 glioma cell line.", "output": {"entities": {"gene": [{"text": "U87", "start": 90, "end": 93}], "disease": [{"text": "glioma", "start": 94, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 8, "end": 13}], "disease": [{"text": "CMT1A", "start": 110, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 8, "end": 13}, "tail": {"text": "CMT1A", "start": 110, "end": 115}}]}}, "schema": []}
{"input": "Three human malignant glioma cell lines (U251, U251-NG2, and BT325) were irradiated with single doses of 0, 5, 10, and 20 grays of gamma-rays from a (137) Cs source.", "output": {"entities": {"gene": [{"text": "NG2", "start": 52, "end": 55}], "disease": [{"text": "malignant glioma", "start": 12, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "To directly implicate HGFL in prostate tumorigenesis, TRAMP mice deficient in HGFL (HGFL-/-TRAMP +) were generated.", "output": {"entities": {"gene": [{"text": "HGFL", "start": 22, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "C3c, C3 activation status (C3c/C3 ratio) and properdin levels increased with higher lobular inflammation scores as determined according to the Kleiner classification (C3c: p < 0. 01, C3c/C3 ratio: p < 0. 05, properdin: p < 0. 05).", "output": {"entities": {"gene": [{"text": "properdin", "start": 45, "end": 54}], "disease": [{"text": "inflammation", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Thus, CLU gene expression might play a crucial role in prostate tumorigenesis by exerting differential biological effects on normal versus tumor cells through differential processing of CLU isoforms in the two cell systems.", "output": {"entities": {"gene": [{"text": "CLU", "start": 6, "end": 9}], "disease": [{"text": "tumorigenesis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Among the congenital sideroblastic anemias (CSAs), the most common form is X-linked sideroblastic anemia, due to mutations in 5-aminolevulinate synthase (ALAS2).", "output": {"entities": {"gene": [{"text": "ALAS2", "start": 154, "end": 159}], "disease": [{"text": "X-linked sideroblastic anemia", "start": 75, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALAS2", "start": 154, "end": 159}, "tail": {"text": "X-linked sideroblastic anemia", "start": 75, "end": 104}}]}}, "schema": []}
{"input": "Airspace enlargement, goblet cell hyperplasia, increased mucin and neutrophilic infiltration were observed in lungs of the Foxa2-deleted mice.", "output": {"entities": {"gene": [{"text": "Foxa2", "start": 123, "end": 128}], "disease": [{"text": "hyperplasia", "start": 34, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "In a papillary thyroid carcinoma, we identified a novel gene (ELKS), the 5' portion of which is fused to the RET gene by gene rearrangement due to the translocation t (10; 12) (q11; p13).", "output": {"entities": {"gene": [{"text": "p13", "start": 182, "end": 185}], "disease": [{"text": "papillary thyroid carcinoma", "start": 5, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The most frequent ATP7B mutation was c. 2333 G & gt; T (p. Arg778Leu), followed by c. 2975 C & gt; T (p. Pro992Leu), which accounted for 63. 6% of the WND mutated alleles.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 18, "end": 23}], "disease": [{"text": "WND", "start": 151, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 18, "end": 23}, "tail": {"text": "WND", "start": 151, "end": 154}}]}}, "schema": []}
{"input": "We report a case of acute nonlymphoblastic leukemia (M5) with a rare cytogenetic abnormality involving chromosomes 8 and 16, t (8; 16) (p11; p13).", "output": {"entities": {"gene": [{"text": "p11", "start": 136, "end": 139}], "disease": [{"text": "cytogenetic abnormality", "start": 69, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Loss of serotonin 5-HT (2B) receptor function may predispose to fenfluramine-associated PPH in man.", "output": {"entities": {"gene": [{"text": "5-HT (2B) receptor", "start": 18, "end": 36}], "disease": [{"text": "PPH", "start": 88, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (2B) receptor", "start": 18, "end": 36}, "tail": {"text": "PPH", "start": 88, "end": 91}}]}}, "schema": []}
{"input": "The purpose of this study was to quantitatively evaluate the expression of two adiponectin receptors, AdipoR1 and AdipoR2, in gastric cancer tissue.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 114, "end": 121}], "disease": [{"text": "gastric cancer", "start": 126, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The genotyping for DRD3 and apolipoprotein E (ApoE) was determined using restriction fragment length polymorphism in 210 patients with mild DAT and 224 age-and sex-matched non-demented controls.", "output": {"entities": {"gene": [{"text": "DRD3", "start": 19, "end": 23}], "disease": [{"text": "mild", "start": 135, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In patients with partial androgen insensitivity syndrome the type of androgen receptor mutation and responses to short-term androgen treatment can be correlated with the individual' s potential to virilize.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 69, "end": 86}], "disease": [{"text": "partial androgen insensitivity syndrome", "start": 17, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 69, "end": 86}, "tail": {"text": "partial androgen insensitivity syndrome", "start": 17, "end": 56}}]}}, "schema": []}
{"input": "We undertook the first comprehensive association analysis of SCNN1G and systolic pressure.", "output": {"entities": {"gene": [{"text": "SCNN1G", "start": 61, "end": 67}], "disease": [{"text": "systolic pressure", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Treatment of these rats with IL-13R-directed cytotoxin caused a substantial decline in fibrosis and liver enzymes without organ toxicity.", "output": {"entities": {"gene": [{"text": "IL-13R", "start": 29, "end": 35}], "disease": [{"text": "fibrosis", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Urinary COL1A1 mRNA level is elevated in nephrotic patients irrespective to the pathological diagnosis, and it correlates with proteinuria, histological scarring, and inversely with renal function.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 8, "end": 14}], "disease": [{"text": "proteinuria", "start": 127, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "B19-DNA was detected more frequently in patients with HBV-associated hepatocellular carcinoma compared to patients with acute and chronic HBV, HBV-associated liver cirrhosis and healthy subjects (P < 0. 006).", "output": {"entities": {"gene": [{"text": "B19", "start": 0, "end": 3}], "disease": [{"text": "hepatocellular carcinoma", "start": 69, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "These findings provided convincing evidence that epistasis between the COMT and ALDH3B1 genes plays an important role in the pathogenesis of schizophrenia.", "output": {"entities": {"gene": [{"text": "ALDH3B1", "start": 80, "end": 87}], "disease": [{"text": "schizophrenia", "start": 141, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALDH3B1", "start": 80, "end": 87}, "tail": {"text": "schizophrenia", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "Leptin, an adipocyte-derived hormone, has a pivotal role in the regulation of body weight through acting on its specific leptin receptor (LEPR).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 138, "end": 142}], "disease": [{"text": "body weight", "start": 78, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "To determine if angiogenic growth factors including vascular endothelial growth factor (VEGF) and platelet-derived endothelial cell growth factor (PD-ECGF) are expressed in human paragangliomas.", "output": {"entities": {"gene": [{"text": "endothelial cell growth factor", "start": 115, "end": 145}], "disease": [{"text": "paragangliomas", "start": 179, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "These changes in RASF appeared to be related to reduced tumor necrosis factor-α secretion, G0/G1 arrest, and altered expression of various proteins including those involved in angiogenesis (matrix metalloproteinase 9, nitric oxide synthase trafficking), hypoxia (hypoxia-inducible factor-α, thioredoxin domain containing 5), proliferation (chromosome 10 open reading frame 116), and inflammation [CCL7, chemokine (C-X-C motif) ligand 9, interleukin 26].", "output": {"entities": {"gene": [{"text": "nitric oxide synthase trafficking", "start": 218, "end": 251}], "disease": [{"text": "inflammation", "start": 383, "end": 395}]}, "relations": {}}, "schema": []}
{"input": "Transient overexpression of the DRBP76/NF90 protein increased both VEGF mRNA and protein levels synthesized under normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 67, "end": 71}], "disease": [{"text": "hypoxic", "start": 127, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "SNPs were also analyzed in genes where their expression pattern or their association with syndromes conveys myopia as part of the phenotype (FGF2, BDNF, COL2A1, COL18A1, and PAX6).", "output": {"entities": {"gene": [{"text": "FGF2", "start": 141, "end": 145}], "disease": [{"text": "myopia", "start": 108, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "No statistically significant difference was found for the allelic and genotypic distributions of the polymorphisms in XRCC1 gene between mild and moderate asthmatic patients.", "output": {"entities": {"gene": [{"text": "XRCC1 gene", "start": 118, "end": 128}], "disease": [{"text": "mild", "start": 137, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These disorders share the feature of mood instability, so that this phenotype might be associated with genetic variation in DGKH.", "output": {"entities": {"gene": [{"text": "DGKH", "start": 124, "end": 128}], "disease": [{"text": "mood instability", "start": 37, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DGKH", "start": 124, "end": 128}, "tail": {"text": "mood instability", "start": 37, "end": 53}}]}}, "schema": []}
{"input": "We report a case of leukemic transformation from myelodysplastic syndrome (MDS) with a sole chromosome abnormality of del11 (p11-13).", "output": {"entities": {"gene": [{"text": "p11", "start": 125, "end": 128}], "disease": [{"text": "chromosome abnormality", "start": 92, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "UGT2B15 and B17 genes were not expressed in AR negative prostate cancer cell lines, PC3 and DU145, while they were expressed in AR positive cell lines, LNCaP, LNCaP-abl (an androgen independent LNCaP sub-line), and VCaP.", "output": {"entities": {"gene": [{"text": "B17", "start": 12, "end": 15}], "disease": [{"text": "prostate cancer", "start": 56, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the results indicated that sorafenib had protective effects against renal fibrosis; its mechanism of action was associated with inhibition of macrophage infiltration via the CXCR3/CXCL11 pathway.", "output": {"entities": {"gene": [{"text": "CXCR3", "start": 190, "end": 195}], "disease": [{"text": "renal fibrosis", "start": 84, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Thus, NKX2-5 appears to be hypermutable, yet the overall detection frequency in sporadic CHD is about 2% and NKX2-5 mutations are one-time detections with single-positives or private to families.", "output": {"entities": {"gene": [{"text": "NKX2-5", "start": 6, "end": 12}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The present study examined the possibility that ACE insertion (I)/deletion (D) functional polymorphism might be associated with particular personality traits.", "output": {"entities": {"gene": [{"text": "ACE", "start": 48, "end": 51}], "disease": [{"text": "personality traits", "start": 139, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Targeting of mTORC2 may have advantages over selective targeting of mTORC1 in the treatment of malignant pheochromocytoma.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 68, "end": 74}], "disease": [{"text": "malignant pheochromocytoma", "start": 95, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Results support the role of LOXL2 in selectively promoting a metastatic phenotype in breast tumor cells.", "output": {"entities": {"gene": [{"text": "LOXL2", "start": 28, "end": 33}], "disease": [{"text": "breast tumor", "start": 85, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LOXL2", "start": 28, "end": 33}, "tail": {"text": "breast tumor", "start": 85, "end": 97}}]}}, "schema": []}
{"input": "Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 133, "end": 137}], "disease": [{"text": "CCD", "start": 77, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 133, "end": 137}, "tail": {"text": "CCD", "start": 77, "end": 80}}]}}, "schema": []}
{"input": "Interestingly, in SKBR3 breast cancer cells, HSP90alpha promoted survival in the presence of serum but appeared to have little effect during starvation.", "output": {"entities": {"gene": [{"text": "HSP90alpha", "start": 45, "end": 55}], "disease": [{"text": "starvation", "start": 141, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We fine mapped this region by genotyping 11 additional polymorphic markers in the same ASP and investigated a total of 68 single nucleotide polymorphisms (SNPs) in functional candidate genes (GCK1, IL6, IGFBP1 and IGFBP3) for association with age of T2D diagnosis, age of ESRD diagnosis, duration of T2D to onset of ESRD, body mass index (BMI) in African American cases and T2D-ESRD in an African American case-control cohort.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 214, "end": 220}], "disease": [{"text": "body mass index", "start": 322, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "The protein expressions were determined by immunohistochemistry in paraffin-embedded human HCC tissues and corresponding non-neoplastic tumor surrounding tissues (NTST) of 57 patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 91, "end": 94}], "disease": [{"text": "non-neoplastic", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "HF1", "start": 217, "end": 220}], "disease": [{"text": "drinking", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "This study aims to analyse the expression of Notch3, Notch4 and HES1 and HES6 as Notch-target genes in HCC, matched non-neoplastic tissue and HEPG2 cells.", "output": {"entities": {"gene": [{"text": "HES1", "start": 64, "end": 68}], "disease": [{"text": "non-neoplastic", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0. 05.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 81, "end": 86}], "disease": [{"text": "smoking", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Histological type, sex, and radiological manifestations (P-LC vs non-P-LC) but not smoking or sequencing method can be served as the independent predictor of EGFR mutations.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 158, "end": 162}], "disease": [{"text": "smoking", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Measurements of resistance (tolerance) to methylating agents, mutation rate at HPRT, microsatellite instability (MSI), and steady-state levels of DNA 8-oxoguanine were used to define the MMR status of transfected clones.", "output": {"entities": {"gene": [{"text": "MMR", "start": 187, "end": 190}], "disease": [{"text": "microsatellite instability", "start": 85, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Since human fibrosarcoma (HT1080) cells produce little fibronectin and LC3, we used these cells to investigate how LC3-mediated Fn1 mRNA translation might alter tumor growth.", "output": {"entities": {"gene": [{"text": "LC3", "start": 71, "end": 74}], "disease": [{"text": "fibrosarcoma", "start": 12, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Using in vivo models and 3D ex vivo organoid cultures of mouse adenomas and human CRC, we found that Prox1 deletion reduced the number of stem cells and cell proliferation and decreased intestinal tumor growth via induction of annexin A1 and reduction of the actin-binding protein filamin A, which has been implicated as a prognostic marker in CRC.", "output": {"entities": {"gene": [{"text": "filamin A", "start": 281, "end": 290}], "disease": [{"text": "intestinal tumor", "start": 186, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.", "output": {"entities": {"gene": [{"text": "HOXD13", "start": 13, "end": 19}], "disease": [{"text": "brachydactyly-syndactyly syndrome", "start": 59, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXD13", "start": 13, "end": 19}, "tail": {"text": "brachydactyly-syndactyly syndrome", "start": 59, "end": 92}}]}}, "schema": []}
{"input": "Immunocytochemistry confirmed the vulnerability of the substantia nigra, demonstrating that there was a significant decrease in the number of NR1 and TH-positive (+) cells/mm2, as well as a decrease in the length of TH + processes, suggesting neurite atrophy.", "output": {"entities": {"gene": [{"text": "mm2", "start": 172, "end": 175}], "disease": [{"text": "atrophy", "start": 251, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we evaluated the therapeutic efficacy of acetyl-l-carnitine (ALC) administration on mitochondrial dysfunction following tenth thoracic level contusion spinal cord injury (SCI) in rats.", "output": {"entities": {"gene": [{"text": "ALC", "start": 83, "end": 86}], "disease": [{"text": "thoracic", "start": 148, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Complete correction of hyperbilirubinemia in the Gunn rat model of Crigler-Najjar syndrome type I following transient in vivo adenovirus-mediated expression of human bilirubin UDP-glucuronosyltransferase.", "output": {"entities": {"gene": [{"text": "bilirubin UDP-glucuronosyltransferase", "start": 166, "end": 203}], "disease": [{"text": "adenovirus", "start": 126, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Consistent with these findings, STAT3 inhibition attenuated the hypoxic induction of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 85, "end": 89}], "disease": [{"text": "hypoxic", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The knockdown of HIF-1α under hypoxic conditions downregulated VEGF, GLUT1, and Survivin mRNA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 63, "end": 67}], "disease": [{"text": "hypoxic", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.", "output": {"entities": {"gene": [{"text": "PEX12", "start": 8, "end": 13}], "disease": [{"text": "abnormalities", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Venous hypoxemia (but not other ischemia indicators, such as venous hypercapnia or low glucose) predicts increased Kir6. 1 (P < 0. 003) and Kir6. 2 (P < 0. 03) protein.", "output": {"entities": {"gene": [{"text": "Kir6. 1", "start": 115, "end": 122}], "disease": [{"text": "hypoxemia", "start": 7, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "We identified alterations in the mRNA level of a wide range of genes, including some that are involved in Wnt signalling (Wnt5a, Wif1, Dixdc1, Wnt11, Ccnd1, and Ccnd2), although we did not observe nuclear localization of β-catenin in over 93 human PJS intestinal polyps or in 24 gastric polyps from Lkb1 (+/-) mice.", "output": {"entities": {"gene": [{"text": "Wnt5a", "start": 122, "end": 127}], "disease": [{"text": "intestinal polyps", "start": 252, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "The Chudley-Lowry syndrome (ChLS, MIM 309490) is an X-linked recessive condition characterized by moderate to severe mental retardation, short stature, mild obesity, hypogonadism, and distinctive facial features characterized by depressed nasal bridge, anteverted nares, inverted-V-shaped upper lip, and macrostomia.", "output": {"entities": {"gene": [{"text": "MIM", "start": 34, "end": 37}], "disease": [{"text": "anteverted nares", "start": 253, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that the levels of expression of CtBP and p300 are critical for the action of SNAIL and ZEB1, which have a pivotal role in EMT, and show the importance of CtBP and p300 for tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 146, "end": 149}], "disease": [{"text": "tumor progression", "start": 196, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Breast cancer resistance protein (BCRP/ABCG2) is currently the only ABC transporter that exports mono-and polyglutamates of folates and methotrexate (MTX).", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 39, "end": 44}], "disease": [{"text": "mono", "start": 97, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Quercetin glucuronide prevents VSMC hypertrophy by angiotensin II via the inhibition of JNK and AP-1 signaling pathway.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 51, "end": 65}], "disease": [{"text": "hypertrophy", "start": 36, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin II", "start": 51, "end": 65}, "tail": {"text": "hypertrophy", "start": 36, "end": 47}}]}}, "schema": []}
{"input": "The TDT for allelic association demonstrated that, in male, a weak association was detected in SNP rs475827 with p = 0. 0294, suggesting that the genetic polymorphisms within PLP1 in male are likely to confer an increased susceptibility to schizophrenia in the Chinese population.", "output": {"entities": {"gene": [{"text": "PLP1", "start": 175, "end": 179}], "disease": [{"text": "increased susceptibility to schizophrenia", "start": 212, "end": 253}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLP1", "start": 175, "end": 179}, "tail": {"text": "increased susceptibility to schizophrenia", "start": 212, "end": 253}}]}}, "schema": []}
{"input": "These findings suggest that Rantes and IFN-gamma contribute to the selective accumulation of macrophages and memory T helper lymphocytes inside the granulomas and inflammatory infiltrates that are characteristic of CD.", "output": {"entities": {"gene": [{"text": "IFN", "start": 39, "end": 42}], "disease": [{"text": "granulomas", "start": 148, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The benefits of sc-Y733F-AAV were evident following viral administration during the active phase of retinal degeneration, where only sc-Y733F-AAV treatment achieved functional vision rescue.", "output": {"entities": {"gene": [{"text": "AAV", "start": 25, "end": 28}], "disease": [{"text": "retinal degeneration", "start": 100, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis showed that Gal-3 was predominantly expressed by mononuclear cells infiltrating into necrotic areas.", "output": {"entities": {"gene": [{"text": "Gal-3", "start": 41, "end": 46}], "disease": [{"text": "necrotic", "start": 114, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gal-3", "start": 41, "end": 46}, "tail": {"text": "necrotic", "start": 114, "end": 122}}]}}, "schema": []}
{"input": "In addition, the mean RBP serum concentration of 21 offspring of the patients with amyloidosis was significantly depressed.", "output": {"entities": {"gene": [{"text": "RBP", "start": 22, "end": 25}], "disease": [{"text": "amyloidosis", "start": 83, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Forebrain-specific CNB knockout mice display a spectrum of behavioral abnormalities related to altered behaviors observed in schizophrenia patients.", "output": {"entities": {"gene": [{"text": "CNB", "start": 19, "end": 22}], "disease": [{"text": "schizophrenia", "start": 125, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNB", "start": 19, "end": 22}, "tail": {"text": "schizophrenia", "start": 125, "end": 138}}]}}, "schema": []}
{"input": "Azole derivatives, ketoconazole, itraconazole, miconazole, and nonazole terbinafine hydrochloride, and tolnaftate reduced interleukin-4 and interleukin-5 secretion without altering that of interferon-gamma and interleukin-2 in anti-CD3/CD28-stimulated T cells from both atopic dermatitis patients and normal donors.", "output": {"entities": {"gene": [{"text": "interleukin-5", "start": 140, "end": 153}], "disease": [{"text": "atopic dermatitis", "start": 270, "end": 287}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-5", "start": 140, "end": 153}, "tail": {"text": "atopic dermatitis", "start": 270, "end": 287}}]}}, "schema": []}
{"input": "Hb Johnstown [β109 (G11) Val → Leu, GTG > TTG] has previously been described as a high oxygen affinity variant in a heterozygous state and in combination with β (0)-thalassemia (β (0)-thal).", "output": {"entities": {"gene": [{"text": "G11", "start": 20, "end": 23}], "disease": [{"text": "thalassemia", "start": 165, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of the reciprocal chromosomal translocation t (12; 22) (p11. 2; q13. 3) cosegregating with a complex type of synpolydactyly showed involvement of an alternatively spliced exon of the fibulin-1 gene (FBLN1 located in 22q13. 3) and the C12orf2 (HoJ-1) gene on the short arm of chromosome 12.", "output": {"entities": {"gene": [{"text": "FBLN1", "start": 218, "end": 223}], "disease": [{"text": "chromosomal translocation", "start": 37, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa.", "output": {"entities": {"gene": [{"text": "USH2", "start": 24, "end": 28}], "disease": [{"text": "high-frequency hearing impairment", "start": 102, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Previously, we showed that trisomy 8 MDS patients had clonally expanded CD8 (+) T-cell populations that recognized aneuploid hematopoietic progenitor cells (HPC).", "output": {"entities": {"gene": [{"text": "CD8", "start": 72, "end": 75}], "disease": [{"text": "aneuploid", "start": 115, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Twelve SH-HCC cases occurring in individuals without metabolic syndrome were identified and examined pathologically.", "output": {"entities": {"gene": [{"text": "HCC", "start": 10, "end": 13}], "disease": [{"text": "metabolic syndrome", "start": 53, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We recruited 226 CVD patients (atherothrombotic infarction, lacunar infarction, and transient ischemic attack) and 301 control subjects and analyzed C242T polymorphism of p22 PHOX by detection of restriction fragment length polymorphism.", "output": {"entities": {"gene": [{"text": "p22", "start": 171, "end": 174}], "disease": [{"text": "lacunar infarction", "start": 60, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Mutation in the CAAT/enhancer binding protein-α (CEBPA) gene has been reported as being one of the common genetic abnormalities in acute myeloid leukemia (AML) and is associated with a good clinical outcome.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 49, "end": 54}], "disease": [{"text": "abnormalities", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Altered emotionality and neuronal excitability in mice lacking KCTD12, an auxiliary subunit of GABAB receptors associated with mood disorders.", "output": {"entities": {"gene": [{"text": "KCTD12", "start": 63, "end": 69}], "disease": [{"text": "mood disorders", "start": 127, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCTD12", "start": 63, "end": 69}, "tail": {"text": "mood disorders", "start": 127, "end": 141}}]}}, "schema": []}
{"input": "It was recently reported that lipocalin 2 (Lcn2) is up-regulated in a wide array of malignant conditions, which facilitates tumorigenesis partly by inhibiting cell apoptosis.", "output": {"entities": {"gene": [{"text": "Lcn2", "start": 43, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Whether UTR-related pathway plays a role in colon carcinogenesis is unknown.", "output": {"entities": {"gene": [{"text": "UTR", "start": 8, "end": 11}], "disease": [{"text": "carcinogenesis", "start": 50, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Effects of hypothyroidism on expression of CRMP2B and ARPC5 during development of the rat frontal cortex.", "output": {"entities": {"gene": [{"text": "ARPC5", "start": 54, "end": 59}], "disease": [{"text": "hypothyroidism", "start": 11, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Although substantial previous data have revealed the role of several protein tyrosine phosphatases (PTPs) in various cancers, the function of protein tyrosine phosphatase receptor R (PTPRR) and protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1) proteins in oral cavity squamous cell carcinoma (SCC) has not been studied to date.", "output": {"entities": {"gene": [{"text": "PTPRR", "start": 183, "end": 188}], "disease": [{"text": "oral cavity squamous cell carcinoma", "start": 276, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "We also assessed 4 recently published gene associations for sudden cardiac arrest, validating NOS1AP (p = 4. 50 × 10 (-2), OR = 1. 15, 95% CI: 1. 003, 1. 326), CSMD2 (p = 6. 6 × 10 (-3), OR = 2. 27, 95% CI: 1. 681, 2. 859), and AGTR1 (p = 3. 00 × 10 (-3), OR = 1. 13, 95% CI: 1. 042, 1. 215).", "output": {"entities": {"gene": [{"text": "AGTR1", "start": 228, "end": 233}], "disease": [{"text": "sudden cardiac arrest", "start": 60, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The EWS gene, which encodes an RNA binding protein, was also shown to be involved in Ewing sarcoma, related primitive neuroectodermal tumors and desmoplastic small round cell tumors.", "output": {"entities": {"gene": [{"text": "RNA binding protein", "start": 31, "end": 50}], "disease": [{"text": "sarcoma", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The Medullary Thyroid Carcinoma was asymptomatic and the mutation of RET protooncogene has been also documented pre-operatively in all of them.", "output": {"entities": {"gene": [{"text": "RET protooncogene", "start": 69, "end": 86}], "disease": [{"text": "asymptomatic", "start": 36, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "IGH-BCL2 translocation and CREBBP mutations are early events, whereas MLL2 and TNFSFR14 mutations represent late events during disease evolution.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 4, "end": 8}], "disease": [{"text": "translocation", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "mRNA levels for 3-hydroxy-3-methylglutaryl-coenzyme A reductase decreased in hyperplasia and increased in HCC, whereas low-density lipoprotein receptor mRNA increased in hyperplasia and decreased in HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 106, "end": 109}], "disease": [{"text": "hyperplasia", "start": 77, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "To confirm these results, we stably overexpressed EDI3 in MCF-7 cells which led to elevated integrin & #946; 1 expression associated with enhanced cell attachment and spreading-two processes critical for metastasis.", "output": {"entities": {"gene": [{"text": "EDI3", "start": 50, "end": 54}], "disease": [{"text": "metastasis", "start": 204, "end": 214}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EDI3", "start": 50, "end": 54}, "tail": {"text": "metastasis", "start": 204, "end": 214}}]}}, "schema": []}
{"input": "In addition, forced expression of C/EBPepsilon in the U937 myelomonoblastic leukemia cells mimicked terminal granulocytic differentiation, including morphologic changes, increased CD11b/CD66b expression, and induction of secondary granule protein expression.", "output": {"entities": {"gene": [{"text": "CD66b", "start": 186, "end": 191}], "disease": [{"text": "leukemia", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Detection of new mutations in the ATP7B gene increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 34, "end": 39}], "disease": [{"text": "WD", "start": 147, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 34, "end": 39}, "tail": {"text": "WD", "start": 147, "end": 149}}]}}, "schema": []}
{"input": "Finally, in primary human breast cancer, NDY1/KDM2B expression correlates negatively with the expression of the NDY1-regulated miRNAs and positively with the expression of their PRC targets.", "output": {"entities": {"gene": [{"text": "PRC", "start": 178, "end": 181}], "disease": [{"text": "breast cancer", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) without neurological problems.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 22, "end": 28}], "disease": [{"text": "PNDM", "start": 86, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ11", "start": 22, "end": 28}, "tail": {"text": "PNDM", "start": 86, "end": 90}}]}}, "schema": []}
{"input": "Serum follistatin was also increased in acute liver failure patients (median 2. 84 ng/ml, range 0. 57-13. 24 ng/ml) compared to normal controls (median 0. 68 ng/ml, range 0. 32-3. 70 ng/ml; 0. 01).", "output": {"entities": {"gene": [{"text": "follistatin", "start": 6, "end": 17}], "disease": [{"text": "acute liver failure", "start": 40, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "follistatin", "start": 6, "end": 17}, "tail": {"text": "acute liver failure", "start": 40, "end": 59}}]}}, "schema": []}
{"input": "Resistin and fractalkine (CX3CL1) are found in human atheroma and not in normal arteries.", "output": {"entities": {"gene": [{"text": "CX3CL1", "start": 26, "end": 32}], "disease": [{"text": "atheroma", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "This study investigated differences in 5-HT (4) receptor and 5-HT transporter (5-HTT) binding by quantitative autoradiography of [(3) H] SB207145 and (S)-[N-methyl-(3) H] citalopram in two murine models of depression-related states, olfactory bulbectomy and glucocorticoid receptor heterozygous (GR (+/-)) mice.", "output": {"entities": {"gene": [{"text": "5-HT (4", "start": 39, "end": 46}], "disease": [{"text": "depression", "start": 206, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (4", "start": 39, "end": 46}, "tail": {"text": "depression", "start": 206, "end": 216}}]}}, "schema": []}
{"input": "By comparison, the 18: 1n-9 and 20: 4n-6 values were significantly lower in patients with regressive autism compared to controls while 22: 5n-3, total n-3 and total dimethyl acetals were significantly lower in both regressive autism and ASP groups compared to controls.", "output": {"entities": {"gene": [{"text": "ASP", "start": 237, "end": 240}], "disease": [{"text": "autism", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Although previous attempts to target therapy to colorectal cancer using the carcinoembryonic antigen (CEA) promoter have demonstrated specificity, this has been achieved at the cost of 10-to 300-fold loss in activity compared with strong but nonspecific rous sarcoma virus (RSV) or cytomegalovirus promoters.", "output": {"entities": {"gene": [{"text": "CEA", "start": 102, "end": 105}], "disease": [{"text": "cytomegalovirus", "start": 282, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "In the majority of HNPCC families, microsatellite instability (MSI) and germline mutation in one of the DNA mismatch repair (MMR) genes are found.", "output": {"entities": {"gene": [{"text": "MMR", "start": 125, "end": 128}], "disease": [{"text": "microsatellite instability", "start": 35, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "AMCase neutralization ameliorated Th2 inflammation and airway hyperresponsiveness, in part by inhibiting IL-13 pathway activation and chemokine induction.", "output": {"entities": {"gene": [{"text": "AMCase", "start": 0, "end": 6}], "disease": [{"text": "inflammation", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined the efficacy of targeted PUMA gene therapy in human oral cancer (SAS) cells using polyethylenimine (PEI)-mediated transfection for gene delivery.", "output": {"entities": {"gene": [{"text": "SAS", "start": 92, "end": 95}], "disease": [{"text": "oral cancer", "start": 79, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Oxalate is then excreted by the kidneys via the basolateral sat-1 (males & gt; females) and the apical CFEX (Slc26a6; GD unknown) in PT and eliminated in the urine (males & gt; females), where it may contribute to the male-prevailing development of oxalate urolithiasis.", "output": {"entities": {"gene": [{"text": "sat-1", "start": 60, "end": 65}], "disease": [{"text": "urolithiasis", "start": 257, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sat-1", "start": 60, "end": 65}, "tail": {"text": "urolithiasis", "start": 257, "end": 269}}]}}, "schema": []}
{"input": "We found that protein kinase C epsilon is rapidly increased in the human lung adenocarcinoma cell line A549 following irradiation.", "output": {"entities": {"gene": [{"text": "protein kinase C epsilon", "start": 14, "end": 38}], "disease": [{"text": "lung adenocarcinoma", "start": 73, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "From these data, the chromosomal abnormality of t (16; 21) (p11; q22) seems to be specifically associated with a unique subtype of ANLL.", "output": {"entities": {"gene": [{"text": "p11", "start": 60, "end": 63}], "disease": [{"text": "chromosomal abnormality", "start": 21, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "A specific missense mutation (c. 823C & gt; T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 76, "end": 82}], "disease": [{"text": "Czech dysplasia", "start": 191, "end": 206}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 76, "end": 82}, "tail": {"text": "Czech dysplasia", "start": 191, "end": 206}}]}}, "schema": []}
{"input": "The novel adipokine chemerin, encoded by the RARRES2 gene, has been suggested to be linked to insulin resistance and to the metabolic syndrome (MetS).", "output": {"entities": {"gene": [{"text": "RARRES2 gene", "start": 45, "end": 57}], "disease": [{"text": "insulin resistance", "start": 94, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "ROMK null mice were polyuric and natriuretic with an elevated hematocrit consistent with mild extracellular volume depletion.", "output": {"entities": {"gene": [{"text": "ROMK", "start": 0, "end": 4}], "disease": [{"text": "volume depletion", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 36, "end": 57}], "disease": [{"text": "Fabry disease", "start": 66, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 36, "end": 57}, "tail": {"text": "Fabry disease", "start": 66, "end": 79}}]}}, "schema": []}
{"input": "Overexpression of a DEAD box/RNA helicase protein, rck/p54, in human hepatocytes from patients with hepatitis C virus-related chronic hepatitis and its implication in hepatocellular carcinogenesis.", "output": {"entities": {"gene": [{"text": "p54", "start": 55, "end": 58}], "disease": [{"text": "chronic hepatitis", "start": 126, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate IL-6-mediated activation of STAT3 occurs in conjunction with the phosphorylation of RKIP in vitro in human colon cancer cells.", "output": {"entities": {"gene": [{"text": "RKIP", "start": 99, "end": 103}], "disease": [{"text": "colon cancer", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Because endothelial nitric oxide synthase (NOS3) activity influences homocysteine concentration and because smoking compromises NOS3 activity, genetic variation in NOS3 might interact with smoking and folic acid use in clefting risk.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 43, "end": 47}], "disease": [{"text": "smoking", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The other mutation is a novel one in the Japanese, an amber mutation (TGG-TAG) in codon 15, causing a beta zero-thalassemia phenotype by premature termination of the beta-globin chain synthesis.", "output": {"entities": {"gene": [{"text": "TAG", "start": 74, "end": 77}], "disease": [{"text": "thalassemia", "start": 112, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These new data from ncx2-/-and ncx3-/-mice may open new experimental avenues for the development of effective therapeutic compounds that, by selectively inhibiting or activating these molecular targets, could treat patients affected by cognitive impairment including Alzheimer' s, Parkinson' s, Huntington' s diseases, and infarct dementia. More importantly, knockout and knockin mice also provided new relevant information on the role played by NCX in maintaining the intracellular Na (+) and Ca (2 +) homeostasis and in protecting neurons during brain ischemia.", "output": {"entities": {"gene": [{"text": "NCX", "start": 446, "end": 449}], "disease": [{"text": "cognitive impairment", "start": 236, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "This current study is the first to find an interaction between OPRM1 and life stress that is associated with depression.", "output": {"entities": {"gene": [{"text": "OPRM1", "start": 63, "end": 68}], "disease": [{"text": "depression", "start": 109, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPRM1", "start": 63, "end": 68}, "tail": {"text": "depression", "start": 109, "end": 119}}]}}, "schema": []}
{"input": "IMP2/p62 induces genomic instability and an aggressive hepatocellular carcinoma phenotype.", "output": {"entities": {"gene": [{"text": "p62", "start": 5, "end": 8}], "disease": [{"text": "genomic instability", "start": 17, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "OASIS mRNA was detected in three distinct glioma cell lines (U373, A172 and U87) and expression levels were increased upon treatment with ER stress-inducing compounds in the U373 and U87 lines.", "output": {"entities": {"gene": [{"text": "U87", "start": 76, "end": 79}], "disease": [{"text": "glioma", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P & lt; 1 x 10 (-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3.", "output": {"entities": {"gene": [{"text": "CLEC16A", "start": 165, "end": 172}], "disease": [{"text": "SLE", "start": 148, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CLEC16A", "start": 165, "end": 172}, "tail": {"text": "SLE", "start": 148, "end": 151}}]}}, "schema": []}
{"input": "Prognostic and therapeutic impact of RPN2-mediated tumor malignancy in non-small-cell lung cancer.", "output": {"entities": {"gene": [{"text": "RPN2", "start": 37, "end": 41}], "disease": [{"text": "malignancy", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In this study, we designed a plasmid vector with a hypoxia-responsive element sequence incorporated into it with the phiC31 integrative system (pVHAVI) to allow long-term VEGF gene expression and to be activated under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 171, "end": 175}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "NF-κB p65 and c-Rel subunits promote phagocytosis and cytokine secretion by splenic macrophages in cirrhotic patients with hypersplenism.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 0, "end": 5}], "disease": [{"text": "hypersplenism", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Since the genes superoxide dismutase (SOD2), myeloperoxidase (MPO), and NAD (P) H: quinone oxidoreductase 1 (NQO1) are involved in inflammation and oxidative stress, we investigated whether variants of these genes are associated with risk of ovarian cancer.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 109, "end": 113}], "disease": [{"text": "inflammation", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The translocation t (14; 18) IgH/BCL2 is the molecular hallmark of follicular lymphomas (FL).", "output": {"entities": {"gene": [{"text": "BCL2", "start": 33, "end": 37}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "We genotyped six ADIPOQ SNPs, nine ADIPOR1 SNPs and six ADIPOR2 SNPs using the Sequenom technique in a hospital-based case-control study of patients with gastric cancer and cancer-free controls in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "ADIPOR2", "start": 56, "end": 63}], "disease": [{"text": "gastric cancer", "start": 154, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P = 2. 5 x 10 (-13) overall; P = 6. 9 x 10 (-12) replication), and rs16892766, at 8q23. 3 (P = 3. 3 x 10 (-18) overall; P = 9. 6 x 10 (-17) replication), which tags a plausible causative gene, EIF3H.", "output": {"entities": {"gene": [{"text": "EIF3H", "start": 353, "end": 358}], "disease": [{"text": "CRC", "start": 61, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EIF3H", "start": 353, "end": 358}, "tail": {"text": "CRC", "start": 61, "end": 64}}]}}, "schema": []}
{"input": "Recent studies have shown increased insulin sensitivity and resistance to obesity in PTP1B knockout mice, thus pointing to this enzyme as a potential drug target in diabetes.", "output": {"entities": {"gene": [{"text": "PTP1B", "start": 85, "end": 90}], "disease": [{"text": "increased insulin sensitivity", "start": 26, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTP1B", "start": 85, "end": 90}, "tail": {"text": "increased insulin sensitivity", "start": 26, "end": 55}}]}}, "schema": []}
{"input": "Deregulation of DUX4 and ERG in acute lymphoblastic leukemia.", "output": {"entities": {"gene": [{"text": "DUX4", "start": 16, "end": 20}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 32, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DUX4", "start": 16, "end": 20}, "tail": {"text": "acute lymphoblastic leukemia", "start": 32, "end": 60}}]}}, "schema": []}
{"input": "Epithelial-to-mesenchymal transition (EMT) contributes significantly to tumor progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 38, "end": 41}], "disease": [{"text": "tumor progression", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In vitro transfection showed that pEpo-SV-VEGF, not pSV-VEGF-Epo, induced the VEGF expression in hypoxic cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 42, "end": 46}], "disease": [{"text": "hypoxic", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "At the end of the 28-week experiment after STZ injections, wild-type diabetic mice showed severe glomerular hypertrophy and mesangial matrix accumulation occasionally featuring nodular glomerulosclerosis.", "output": {"entities": {"gene": [{"text": "STZ", "start": 43, "end": 46}], "disease": [{"text": "nodular glomerulosclerosis", "start": 177, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "STK39 interacts with OXSR1 and phosphorylates the sodium-chloride co-transporter (SLC12A3), which plays a critical role in regulating the salt/water balance and blood pressure.", "output": {"entities": {"gene": [{"text": "SLC12A3", "start": 82, "end": 89}], "disease": [{"text": "blood pressure", "start": 161, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Using a loss-of-function genetic mouse model, we demonstrated that the lack of Mmp17 resulted in the presence of dysfunctional vascular smooth muscle cells and altered extracellular matrix in the vessel wall; and it led to increased susceptibility to angiotensin-II-induced thoracic aortic aneurysm.", "output": {"entities": {"gene": [{"text": "Mmp17", "start": 79, "end": 84}], "disease": [{"text": "thoracic aortic aneurysm", "start": 274, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "Short hairpin RNA knockdown of endogenous PTPRU in human and rat glioma cell lines suppressed proliferation, survival, invasion, migration, adhesion and vasculogenic tube formation in vitro, as well as intracranial tumor progression in vivo.", "output": {"entities": {"gene": [{"text": "PTPRU", "start": 42, "end": 47}], "disease": [{"text": "adhesion", "start": 140, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Restoration of SP-B expression following administration of doxycycline rapidly reversed SP-B-dependent abnormalities in lung mechanics and inflammation.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 15, "end": 19}], "disease": [{"text": "abnormalities", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four ADLTE families and 140 sporadic LTE patients with no evidence of point mutations in LGI1 were screened for copy number alterations using multiplex ligation-dependent probe amplification (MLPA).", "output": {"entities": {"gene": [{"text": "LGI1", "start": 96, "end": 100}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to characterize in vitro and in vivo effects of a novel homozygous CYP11A1 gene mutation identified in a patient with an unusual presentation of P450scc deficiency.", "output": {"entities": {"gene": [{"text": "CYP11A1", "start": 79, "end": 86}], "disease": [{"text": "P450scc deficiency", "start": 157, "end": 175}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP11A1", "start": 79, "end": 86}, "tail": {"text": "P450scc deficiency", "start": 157, "end": 175}}]}}, "schema": []}
{"input": "CDC25B is a cell-cycle regulatory protein, which is considered to be related to tumorigenesis and progression of tumours.", "output": {"entities": {"gene": [{"text": "CDC25B", "start": 0, "end": 6}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Kallistatin is a serine proteinase inhibitor that has been shown to reduce joint swelling and to inhibit inflammation in a rat model of arthritis.", "output": {"entities": {"gene": [{"text": "Kallistatin", "start": 0, "end": 11}], "disease": [{"text": "joint swelling", "start": 75, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "No statistically significant differences were found between the levels of IL-23, Il-22 or IL-10 in PV or ET subjects with or without thrombosis, in patients with or without pruritus, or according the JAK2V617F burden.", "output": {"entities": {"gene": [{"text": "Il-22", "start": 81, "end": 86}], "disease": [{"text": "pruritus", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Variants at the FTO, TMEM18, FAIM2, RBJ, ZNF608 and QPCTL loci yielded nominal evidence for association with BMI and/or overweight risk (p < 0. 05).", "output": {"entities": {"gene": [{"text": "TMEM18", "start": 21, "end": 27}], "disease": [{"text": "overweight", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Studies on alpha-1 antitrypsin deficiency in white (Caucasian) COPD and non-COPD populations in 6 countries were combined to obtain estimates of the prevalence of the PIS and PIZ deficiency alleles in the combined COPD and non-COPD cohorts.", "output": {"entities": {"gene": [{"text": "PIS", "start": 167, "end": 170}], "disease": [{"text": "alpha-1 antitrypsin deficiency", "start": 11, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Six genes (DAO, GRM3, GRM4, GRIN2B, IL2RB, and TUBA8) met this criterion for bipolar I disorder; only DAO has been previously associated with bipolar disorder.", "output": {"entities": {"gene": [{"text": "GRM4", "start": 22, "end": 26}], "disease": [{"text": "bipolar disorder", "start": 142, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRM4", "start": 22, "end": 26}, "tail": {"text": "bipolar disorder", "start": 142, "end": 158}}]}}, "schema": []}
{"input": "The epithelial-mesenchymal transition (EMT) plays a critical role in tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 39, "end": 42}], "disease": [{"text": "tumor progression", "start": 69, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we used NOG mice bearing primary adult T cell leukemia/lymphoma (ATLL) cells and a therapeutic chimeric anti-CCR4 mAb, the Fc region of which is defucosylated to enhance ADCC.", "output": {"entities": {"gene": [{"text": "NOG", "start": 30, "end": 33}], "disease": [{"text": "lymphoma", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Canonical WNT signals are transduced through Frizzled (FZD) family receptor and LRP5/LRP6 co-receptor to upregulate FGF20, JAG1, DKK1, WISP1, CCND1 and MYC genes for cell-fate determination, while non-canonical WNT signals are transduced through FZD family receptor and ROR2/PTK7/RYK co-receptor to activate RHOA/RHOU/RAC/CDC42, JNK, PKC, NLK and NFAT signaling cascades for the regulation of tissue polarity, cell movement, and adhesion.", "output": {"entities": {"gene": [{"text": "WISP1", "start": 135, "end": 140}], "disease": [{"text": "adhesion", "start": 429, "end": 437}]}, "relations": {}}, "schema": []}
{"input": "Cells, derived from a mammary carcinoma and from a glioblastoma, with reduced ASAP3 expression had fewer actin stress fiber, reduced levels of phosphomyosin, and migrated more slowly than control cells.", "output": {"entities": {"gene": [{"text": "ASAP3", "start": 78, "end": 83}], "disease": [{"text": "glioblastoma", "start": 51, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) is a family of cytokines for which the dysregulation of expression is involved in many diseases; for some, excess VEGF causes pathological hypervascularization, while for others VEGF-induced vascular remodeling may alleviate ischemia and/or hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxia", "start": 283, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "Post-stroke depression (PSD) has become a prominent negative factor of stroke recovery.", "output": {"entities": {"gene": [{"text": "PSD", "start": 24, "end": 27}], "disease": [{"text": "stroke", "start": 5, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "Interleukin 6 may be an important mediator of trimethoprim-induced systemic adverse reaction resembling aseptic meningitis.", "output": {"entities": {"gene": [{"text": "Interleukin 6", "start": 0, "end": 13}], "disease": [{"text": "aseptic meningitis", "start": 104, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Interleukin 6", "start": 0, "end": 13}, "tail": {"text": "aseptic meningitis", "start": 104, "end": 122}}]}}, "schema": []}
{"input": "Our data support that ADM may be associated with the pathophysiology of schizophrenia, although the cause of the association needs further study.", "output": {"entities": {"gene": [{"text": "ADM", "start": 22, "end": 25}], "disease": [{"text": "schizophrenia", "start": 72, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADM", "start": 22, "end": 25}, "tail": {"text": "schizophrenia", "start": 72, "end": 85}}]}}, "schema": []}
{"input": "The CC genotype of rs4633 (C/T) and the GG genotype of rs4680 (G/A) showed a significantly higher degree of PAI and the association remained positive after adjustment for age, hypertension, diabetes, smoking and drinking (p = 0. 035 and p = 0. 031, respectively).", "output": {"entities": {"gene": [{"text": "PAI", "start": 108, "end": 111}], "disease": [{"text": "drinking", "start": 212, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Genetic studies in the systemic sclerosis (SSc), an autoimmune disease that clinically manifests with dermal and internal organ fibrosis and small vessel vasculopathy, have identified multiple susceptibility genes including HLA-class II, PTPN22, IRF5, and STAT4 which have also been associated with other autoimmune diseases, such as systemic lupus erythematosus (SLE).", "output": {"entities": {"gene": [{"text": "STAT4", "start": 256, "end": 261}], "disease": [{"text": "fibrosis", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Based on these findings, altered expression of PLP1 in most areas of the striatum suggests that widespread changes to the myelin structure could be associated with the adaptive changes following chronic cocaine abuse.", "output": {"entities": {"gene": [{"text": "PLP1", "start": 47, "end": 51}], "disease": [{"text": "cocaine abuse", "start": 203, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLP1", "start": 47, "end": 51}, "tail": {"text": "cocaine abuse", "start": 203, "end": 216}}]}}, "schema": []}
{"input": "To understand the functional consequence of the translocation, we determined the pattern of expression of API2 and MALT1 through B lineage differentiation.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 115, "end": 120}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In addition, although transcript abundance of various forms of DNMT was highly correlated in normal control subjects, this coordination of DNMT isoform expression was diminished in suicide brain.", "output": {"entities": {"gene": [{"text": "DNMT", "start": 63, "end": 67}], "disease": [{"text": "suicide", "start": 181, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Branchio-oto-renal (BOR) and Branchio-otic (BO) syndromes are dominant disorders characterized by variable hearing impairment (HI) and branchial defects.", "output": {"entities": {"gene": [{"text": "BOR", "start": 20, "end": 23}], "disease": [{"text": "hearing impairment", "start": 107, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that LKB1 may inhibit tumorigenesis by regulating Hh signaling in certain cancers.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 28, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we examined whether the MRP2 protein is overexpressed after experimentally induced seizures in rats, using the pilocarpine model of temporal lobe epilepsy.", "output": {"entities": {"gene": [{"text": "MRP2", "start": 37, "end": 41}], "disease": [{"text": "temporal lobe epilepsy", "start": 145, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "4-HEB (IC (50) 48h, 75muM) showed selective toxicity towards five melanocytic melanoma cell lines SK-MEL-28, SK-MEL-5, MeWo, B16-F0 and B16-F10, which express functional tyrosinase, compared to four non-melanoma cells lines SW-620, Saos-2, PC3 and BJ cells and two amelanotic SK-MEL-24, C32 cells, which do not express functional tyrosinase.", "output": {"entities": {"gene": [{"text": "HEB", "start": 2, "end": 5}], "disease": [{"text": "melanoma", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Reduced apelin expression and serum concentration may contribute to improved insulin sensitivity beyond significant weight loss.", "output": {"entities": {"gene": [{"text": "apelin", "start": 8, "end": 14}], "disease": [{"text": "insulin sensitivity", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Epigenetic changes of HIN-1 were examined throughout the progression of carcinogenesis in esophageal squamous lesions through analysis of archived surgical specimens from patients with normal esophageal mucosa (n = 17), grade I dysplasia (n = 39), grade II dysplasia (n = 12), grade III dysplasia (n = 9), and invasive squamous esophageal cancer (n = 126).", "output": {"entities": {"gene": [{"text": "HIN-1", "start": 22, "end": 27}], "disease": [{"text": "esophageal", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we used a NASBA/ECL-based technique to quantify TF mRNA in whole blood during human endotoxemia and observed a 125-fold increase in TF mRNA levels.", "output": {"entities": {"gene": [{"text": "ECL", "start": 31, "end": 34}], "disease": [{"text": "endotoxemia", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The number of pack-years of smoking at baseline was identified to be a significant predictor of airway obstruction only in the ALDH2 * 2 allele carriers.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 127, "end": 132}], "disease": [{"text": "smoking", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Two paradigms of pain modulation were administered to 191 healthy participants in a random order: Conditioned Pain Modulation in response to painful stimuli (CPM (painful)) tested by the coadministration of repeated short painful heat stimuli and a conditioning tonic cold pain stimulation; and Conditioned Pain Modulation in response to nonpainful stimuli (CPM (nonpainful)) tested similarly, except for using a painless conditioning stimulation.", "output": {"entities": {"gene": [{"text": "CPM", "start": 158, "end": 161}], "disease": [{"text": "cold", "start": 268, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "TRF assays confirmed insulin-stimulated GLUT4 translocation, which can be inhibited by PI3K (phosphoinositide 3-kinase) or Akt [also called PKB (protein kinase B)] inhibitors.", "output": {"entities": {"gene": [{"text": "protein kinase B", "start": 145, "end": 161}], "disease": [{"text": "translocation", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the relationship between the β3-AR gene mutation and the prevalence of MS. A seven-year follow-up study was initiated in 2000, with 496 samples of simplex obese subjects (body mass index ≥ 25 kg/m (2)) and 248 normal-weight subjects.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 73, "end": 80}], "disease": [{"text": "weight", "start": 258, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-primed PCR (TP-PCR) in 122 unrelated hereditary ataxia (HA) and 114 unrelated hereditary spastic paraplegia (HSP) patients.", "output": {"entities": {"gene": [{"text": "GAA", "start": 4, "end": 7}], "disease": [{"text": "hereditary spastic paraplegia", "start": 156, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Activating transcription factor 1 (ATF1) may be involved in essential hypertension (EH) by induction of NADPH oxidase 1 (NOX1) and radical oxygen species (ROSs) production.", "output": {"entities": {"gene": [{"text": "transcription factor 1", "start": 11, "end": 33}], "disease": [{"text": "essential hypertension", "start": 60, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Analyses with MAC-1 and F4/80 antibodies as well as in vivo labeling with bromodeoxyuridine demonstrate that microglia in the plaque vicinity are in an activated state and that proliferation contributes to their accumulation at the plaque periphery.", "output": {"entities": {"gene": [{"text": "MAC-1", "start": 14, "end": 19}], "disease": [{"text": "plaque", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Our recent results show that all-trans retinoic acid (ATRA), an active metabolite of vitamin A, induces COX-dependent hyperalgesia and allodynia in rats.", "output": {"entities": {"gene": [{"text": "COX", "start": 104, "end": 107}], "disease": [{"text": "allodynia", "start": 135, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "We used a siRNA-mediated loss-of-function in MDA-MB-435 breast cancer cell line to study the role of the two main LMW-PTP isoforms, fast and slow, in breast cancer tumorigenesis and migration.", "output": {"entities": {"gene": [{"text": "LMW-PTP", "start": 114, "end": 121}], "disease": [{"text": "tumorigenesis", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "PCI-32765 blocked RANKL/M-CSF-induced phosphorylation of Btk and downstream PLC-γ2 in OCs, resulting in diminished TRAP5b (ED50 = 17 nM) and bone resorption activity.", "output": {"entities": {"gene": [{"text": "PLC", "start": 76, "end": 79}], "disease": [{"text": "bone resorption", "start": 141, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "DEGs also indicate overproduction of matrix proteases (MMP9, ADAM9, and ADAM19) and proteolytic enzymes (CTSG, ELA2, CPA3, TPSB2, and CMA1) that may contribute to epidermal splitting and blister formation.", "output": {"entities": {"gene": [{"text": "ELA2", "start": 111, "end": 115}], "disease": [{"text": "blister", "start": 187, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "The present work aimed at evaluating putative dysregulation of interleukin-18 (IL-18), a pro-inflammatory cytokine of the IL-1 family in the sera of patients with ASD of different grades, compared to healthy controls, as well as in postmortem brain samples obtained from patients with tuberous sclerosis as well as acute inflammatory diseases.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 79, "end": 84}], "disease": [{"text": "tuberous sclerosis", "start": 285, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 68, "end": 72}], "disease": [{"text": "sporadic", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that IFN-gamma suppressed tumor-induced bone loss and hypercalcemia in Tax (+) mice by inhibiting both Tax (+) tumor cell growth and host-induced osteolysis.", "output": {"entities": {"gene": [{"text": "IFN", "start": 28, "end": 31}], "disease": [{"text": "hypercalcemia", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To better elucidate the pathogenesis of lymphocyte recruitment of memory CD4 (+) T cells in inflammatory myopathies, we studied the expression of CCR5 and CCR7 on CD4 memory T cells in muscle tissue from 11 patients with juvenile dermatomyositis, six adult patients with polymyositis, two patients with Duchenne muscular dystrophy, and two patients with spinal muscular atrophy.", "output": {"entities": {"gene": [{"text": "CD4", "start": 73, "end": 76}], "disease": [{"text": "spinal muscular atrophy", "start": 354, "end": 377}]}, "relations": {}}, "schema": []}
{"input": "This study was conducted to investigate the significance of ATAD3A in glioblastoma multiforme (GBM).", "output": {"entities": {"gene": [{"text": "ATAD3A", "start": 60, "end": 66}], "disease": [{"text": "glioblastoma multiforme", "start": 70, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "To determine the chemokine receptor expression profile in gastric mucosa-associated lymphoid tissue (MALT) lymphoma, we performed an expression analysis of 19 chemokine receptors at mRNA levels by using real-time RT-PCR, as well as of five chemokine receptors--CCR8, CCR9, CXCR4, CXCR6 and CXCR7--by immunohistochemistry on human tissue samples of Helicobacter pylori-associated gastritis, gastric MALT lymphoma and gastric extranodal diffuse large B-cell lymphoma originating from MALT lymphoma (transformed MALT lymphoma).", "output": {"entities": {"gene": [{"text": "CCR9", "start": 267, "end": 271}], "disease": [{"text": "lymphoma", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Using a series of DNA array membranes, we identified a group of hypoxia-induced genes that included plasminogen activator inhibitor-1 (PAI-1), insulin-like growth factor-binding protein 3 (IGFBP-3), endothelin-2, low-density lipoprotein receptor-related protein (LRP), BCL2-interacting killer (BIK), migration-inhibitory factor (MIF), matrix metalloproteinase-13 (MMP-13), fibroblast growth factor-3 (FGF-3), GADD45, and vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 457, "end": 461}], "disease": [{"text": "hypoxia", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Clonal B cell expansion was assessed by two polymerase chain reaction (PCR) assays: (i) semi-nested PCR, against sequences encoding framework regions FR3, FR2 and FR1c of the variable chain IgH gene in B cells present in the MSG infiltrate; and (ii) the PCR-enzyme-linked immunosorbent assay (ELISA) technique, against the major and minor breakpoint regions of the Bcl-2 oncogene coupled with a variable segment of the IgH to assess the Bcl-2/JH translocation.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 365, "end": 370}], "disease": [{"text": "translocation", "start": 446, "end": 459}]}, "relations": {}}, "schema": []}
{"input": "AIM, SETTING AND DESIGN: In the present study, we examined the association of the GSTM1 and GSTT1 gene polymorphisms with sporadic prostate cancer patients in north Indian population.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 82, "end": 87}], "disease": [{"text": "sporadic", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The present study suggests that the BstB I polymorphism of PTH gene is closely related to bone mineral density and that PTH gene polymorphisms do not seem to affect the development of primary hyperparathyroidism but may relate to the severity of primary hyperparathyroidism.", "output": {"entities": {"gene": [{"text": "PTH gene", "start": 59, "end": 67}], "disease": [{"text": "bone mineral density", "start": 90, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Here we studied the expression of NKR (i. e., NKG2C, NKG2A, LILRB1, CD161) and the frequency of the NKG2C gene deletion in children with past congenital infection, both symptomatic (n = 15) and asymptomatic (n = 11), including as controls children with postnatal infection (n = 11) and noninfected (n = 20).", "output": {"entities": {"gene": [{"text": "CD161", "start": 68, "end": 73}], "disease": [{"text": "asymptomatic", "start": 194, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "No evidence of novel GATA4 and NKX2. 5 mutations was found both in sporadic and familial patients.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 31, "end": 38}], "disease": [{"text": "sporadic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Nuclear transport of the viral tegument protein VP16, transport of viral capsids to the nuclear pore, and downstream events (including expression of immediate-early genes and viral plaque formation) were substantially reduced in cells transfected with dominant-negative mutants of FAK or small interfering RNA designed to inhibit FAK expression.", "output": {"entities": {"gene": [{"text": "FAK", "start": 281, "end": 284}], "disease": [{"text": "plaque", "start": 181, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "We found that recombinant Hsp90 expression in the ischemic region of the heart led to a 33% reduction in infarct size and prevented the increase in postischemic left ventricular end diastolic pressure observed in mock-transfected animals.", "output": {"entities": {"gene": [{"text": "Hsp90", "start": 26, "end": 31}], "disease": [{"text": "infarct", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Finally, we found that SMARCA2 interactors and the genome-wide supported SZ-associated genes are considerably enriched in genes displaying positive selection in primates and in the human lineage which suggests the occurrence of novel protein interactions in primates.", "output": {"entities": {"gene": [{"text": "SMARCA2", "start": 23, "end": 30}], "disease": [{"text": "SZ", "start": 73, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMARCA2", "start": 23, "end": 30}, "tail": {"text": "SZ", "start": 73, "end": 75}}]}}, "schema": []}
{"input": "In defining the functional relevance of STS induction in metabolic disease, we showed that overexpression of STS in the liver of transgenic mice alleviated HFD and ob/ob models of obesity and type 2 diabetes, including reduced body weight, improved insulin sensitivity, and decreased hepatic steatosis and inflammation.", "output": {"entities": {"gene": [{"text": "STS", "start": 40, "end": 43}], "disease": [{"text": "hepatic steatosis", "start": 284, "end": 301}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STS", "start": 40, "end": 43}, "tail": {"text": "hepatic steatosis", "start": 284, "end": 301}}]}}, "schema": []}
{"input": "However, the existence of CSCs in U87, a most commonly used glioma cell line, is still controversial.", "output": {"entities": {"gene": [{"text": "U87", "start": 34, "end": 37}], "disease": [{"text": "glioma", "start": 60, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The findings indicate that the three-way translocation involved BCL2, IGH, and BCL6 and that the der (3) t (3; 16) (q27;?)", "output": {"entities": {"gene": [{"text": "BCL2", "start": 64, "end": 68}], "disease": [{"text": "translocation", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Decreased expression of dermatopontin was also associated with keloid formation, a fibrotic disease that shares epidemiologic similarities with leiomyoma.", "output": {"entities": {"gene": [{"text": "dermatopontin", "start": 24, "end": 37}], "disease": [{"text": "keloid formation", "start": 63, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Six SNPs from the first of three COMT/TXNRD2 haploblocks interacted with depressive symptoms on TMD pain (smallest p-value: 2. 7 & #215; 10 (-10)).", "output": {"entities": {"gene": [{"text": "TXNRD2", "start": 38, "end": 44}], "disease": [{"text": "depressive symptoms", "start": 73, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TXNRD2", "start": 38, "end": 44}, "tail": {"text": "depressive symptoms", "start": 73, "end": 92}}]}}, "schema": []}
{"input": "The discovery of activation-induced cytidine deaminase (AID) and the use of murine models to study translocation have led to a new understanding of how these events contribute to the genesis of lymphomas.", "output": {"entities": {"gene": [{"text": "AID", "start": 56, "end": 59}], "disease": [{"text": "translocation", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Moreover, OPN-c Mu showed the strongest effect on glioma cell invasion, while OPN-b Mu showed no effect on the invasion of U251 and U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 132, "end": 135}], "disease": [{"text": "glioma", "start": 50, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In this study, we explored if the protein phosphatase PP6 is involved in DSB repair by depletion of its expression in human cancer cell lines, and determined PP6 expression in human breast cancer tissues by immunohistochemistry staining.", "output": {"entities": {"gene": [{"text": "PP6", "start": 54, "end": 57}], "disease": [{"text": "breast cancer", "start": 182, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "To determine whether neuroadaptations that produce anhedonia subsequently affect vulnerability to stress-induced behavioral adaptations, we subjected rats with altered CREB function in the NAS to fear conditioning.", "output": {"entities": {"gene": [{"text": "CREB", "start": 168, "end": 172}], "disease": [{"text": "anhedonia", "start": 51, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Tumors originated from Tm1G3 were larger in tumor volume with enlarged functional vessels, decreased necrotic areas, and increased vascular endothelial growth factor (VEGF) protein levels.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 167, "end": 171}], "disease": [{"text": "necrotic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that the level of anti-RHA diminishes over time, and that anti-RHA is regulated via a mechanism different from that for other lupus-related autoantibodies.", "output": {"entities": {"gene": [{"text": "RHA", "start": 42, "end": 45}], "disease": [{"text": "lupus", "start": 145, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Hypomethylation of MOS in GC tissues was associated with tumour invasion, nodal metastasis, and undifferentiated histology (p < 0. 05).", "output": {"entities": {"gene": [{"text": "MOS", "start": 19, "end": 22}], "disease": [{"text": "metastasis", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Our study demonstrated that three candidate pancreatic ductal adenocarcinoma biomarkers identified in previous studies, fructose-bisphosphate aldolase A, alpha-smooth muscle actin and vimentin, were also overexpressed in pancreatic cystadenoma, which might lower their further utility as biomarkers for pancreatic cancer.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 160, "end": 179}], "disease": [{"text": "pancreatic cystadenoma", "start": 221, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to identify mutations in NEK1 as an underlying cause of this lethal osteochondrodysplasia.", "output": {"entities": {"gene": [{"text": "NEK1", "start": 140, "end": 144}], "disease": [{"text": "short-rib polydactyly syndrome Majewski type", "start": 70, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NEK1", "start": 140, "end": 144}, "tail": {"text": "short-rib polydactyly syndrome Majewski type", "start": 70, "end": 114}}]}}, "schema": []}
{"input": "In this study, normal colon and colonic lesions (hyperplastic polyp, adenoma, and colonic adenocarcinoma) were examined by immunohistochemistry using antibodies against Hh signalling molecules: the secreted protein Sonic hedgehog (SHH), its receptor Patched (PTCH), and the PTCH-associated transmembrane protein Smoothened (SMOH).", "output": {"entities": {"gene": [{"text": "SMOH", "start": 324, "end": 328}], "disease": [{"text": "hyperplastic polyp", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The effectiveness of combined chemoimmunotherapy with ifosfamide derivative CBM-4A and granulocyte-macrophage colony-stimulating factor (GM-CSF) was investigated in two experimental tumor models, 3MC-induced MHC class I + sarcoma Mc12 and HPV16 E6/E7 oncogene-induced MHC class I-carcinoma MK16, transplanted in syngeneic mice.", "output": {"entities": {"gene": [{"text": "granulocyte-macrophage colony-stimulating factor", "start": 87, "end": 135}], "disease": [{"text": "sarcoma", "start": 222, "end": 229}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte-macrophage colony-stimulating factor", "start": 87, "end": 135}, "tail": {"text": "sarcoma", "start": 222, "end": 229}}]}}, "schema": []}
{"input": "The expression of ERbeta in the liver of 42 patients with HCC (10 with paired extratumoral tissues) and 26 with chronic liver disease without HCC was studied by a reverse transcriptase-polymerase chain reaction method, and correlated with the expression of ERalpha and severity of the liver disease.]", "output": {"entities": {"gene": [{"text": "HCC", "start": 58, "end": 61}], "disease": [{"text": "liver disease", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Some recurrent cytogenetic abnormalities, such as t (8; 16) (p11; p13), are so rare that collaborative studies are required to define their prognostic impact.", "output": {"entities": {"gene": [{"text": "p11", "start": 61, "end": 64}], "disease": [{"text": "cytogenetic abnormalities", "start": 15, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We have cloned and characterized human WNT2B/WNT13, WNT3, WNT3A, WNT5B, WNT6, WNT7B, WNT8A, WNT8B, WNT10A, WNT10B, WNT11, WNT14 and WNT14B/WNT15 using bioinformatics and cDNA-PCR, and also reported frequent up-regulation of WNT2 in primary gastric cancer.", "output": {"entities": {"gene": [{"text": "WNT8A", "start": 85, "end": 90}], "disease": [{"text": "gastric cancer", "start": 240, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of the FKBP family of peptidyl prolyl isomerases induces abortive translocation and degradation of the cellular prion protein.", "output": {"entities": {"gene": [{"text": "prion protein", "start": 123, "end": 136}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The lack of GPI-anchored complement regulatory proteins, such as decay-accelerating factor (DAF) and CD59, results in complement-mediated hemolysis and hemoglobinuria.", "output": {"entities": {"gene": [{"text": "GPI", "start": 12, "end": 15}], "disease": [{"text": "hemolysis", "start": 138, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Clonal TCR gamma gene rearrangements were found in 66% of patch/plaque-stage MF and 100% of tumor-stage MF and pleomorphic CTCL, but not in any of 10 pseudo-T-cell lymphomas studied.", "output": {"entities": {"gene": [{"text": "TCR gamma gene", "start": 7, "end": 21}], "disease": [{"text": "plaque", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 23, "end": 29}], "disease": [{"text": "mulibrey nanism", "start": 70, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIM37", "start": 23, "end": 29}, "tail": {"text": "mulibrey nanism", "start": 70, "end": 85}}]}}, "schema": []}
{"input": "In the present study we investigated the effect of CRF (2) receptor activation with urocortin III on airway smooth muscle tone in vitro and in an acute model of airway inflammation in mice.", "output": {"entities": {"gene": [{"text": "urocortin III", "start": 84, "end": 97}], "disease": [{"text": "inflammation", "start": 168, "end": 180}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "urocortin III", "start": 84, "end": 97}, "tail": {"text": "inflammation", "start": 168, "end": 180}}]}}, "schema": []}
{"input": "Severe sepsis resulted in a 42. 4-fold increase in median GAPDH expression (P < 0. 001), whereas median HPRT expression was raised more modestly (2. 9-fold; P < 0. 001), and there was no significant difference in SDHA expression between sepsis and control patients.", "output": {"entities": {"gene": [{"text": "SDHA", "start": 213, "end": 217}], "disease": [{"text": "sepsis", "start": 7, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "We determined the effect of forced CAR expression on the invasion and growth of the human glioma cell line U87-MG, which does not express any CAR.", "output": {"entities": {"gene": [{"text": "U87", "start": 107, "end": 110}], "disease": [{"text": "glioma", "start": 90, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We examined the possible contribution to cocaine dependence of 16 genes involved in the cellular machinery that controls neurotransmitter release: genes encoding proteins of the SNARE complex (STX1A, SNAP25, VAMP1 and VAMP2), fusion control elements (SYT1, SYT2, CPLX1, CPLX2, CPLX3 and CPLX4) and regulatory elements (STXBP1, SYP, SNPH, NSF, NAPA and RAB3A).", "output": {"entities": {"gene": [{"text": "STXBP1", "start": 319, "end": 325}], "disease": [{"text": "cocaine dependence", "start": 41, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The higher mRNA expressions of TLR2, TLR4 and CSF2, and the lower mRNA expression of LY64 were detected in chronic periodontitis patients.", "output": {"entities": {"gene": [{"text": "LY64", "start": 85, "end": 89}], "disease": [{"text": "chronic periodontitis", "start": 107, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Increased TNF-alpha or IL-8 expression in the placenta was associated with intrauterine growth retardation but not with preterm delivery.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 23, "end": 27}], "disease": [{"text": "preterm delivery", "start": 120, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "RELM-β has the potential to contribute to airway remodelling in diseases such as asthma by acting on epithelial cells to increase proliferation, mucin and growth factor production, at least partly via ERK/MAPK-PI3K/Akt signalling pathways.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 210, "end": 214}], "disease": [{"text": "airway remodelling", "start": 42, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to investigate the relationship between G protein beta3 polymorphisms and clozapine-induced body weight change in a Chinese population during long-term treatment.", "output": {"entities": {"gene": [{"text": "beta3", "start": 83, "end": 88}], "disease": [{"text": "body weight change", "start": 125, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Four of 68 (6%) cases carried a translocation involving IGH and FOXP1 (n = 1), BCL2 (n = 1) or an unknown partner (n = 2).", "output": {"entities": {"gene": [{"text": "BCL2", "start": 79, "end": 83}], "disease": [{"text": "translocation", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Soluble Tie2 fusion protein (sTie2-Fc), which precluded modulation of VEGF-dependent tube formation by the angiopoietins, suppressed both VEGF and hypoxia-conditioned, medium-induced tube-forming activity in BRECs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 70, "end": 74}], "disease": [{"text": "hypoxia", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The renal tissue from patients with MGN, MCD, focal segmental glomerulosclerosis, acute tubulointerstitial nephritis, diabetic nephropathy, immunoglobulin (Ig) A nephropathy, hypertensive nephrosclerosis, IgM nephropathy, amyloidosis and glomerulosclerosis were studied for the expression of cytokines (tumor necrosis factor, [TNF]-alpha, interleukin [IL]-1 beta, IL-2, IL-4, IL-8 and IL-10) by reverse transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 364, "end": 368}], "disease": [{"text": "acute tubulointerstitial nephritis", "start": 82, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The lower values of weight-for-age and height-for-age z scores, necessity for more intensive therapy, achievement of longer periods until remission, and frequent relapses in the patients bearing mutations in the IL10 receptor genes all underlined the severity of the disease and its relatively poor response to treatment.", "output": {"entities": {"gene": [{"text": "IL10", "start": 212, "end": 216}], "disease": [{"text": "height", "start": 39, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We report here a new cellular function of p27 as a transcriptional regulator in association with p130/E2F4 complexes that could be relevant for tumorigenesis.", "output": {"entities": {"gene": [{"text": "p27", "start": 42, "end": 45}], "disease": [{"text": "tumorigenesis", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Episodes were generally mild, and nearly all cases resolved spontaneously or with discontinuation of calcium and vitamin D. The algorithms used to address hypercalcemia and hypercalciuria in the PaTH trial proved effective in safely resolving clinical episodes of increased urinary or serum calcium and might therefore be helpful to clinicians caring for patients on PTH.", "output": {"entities": {"gene": [{"text": "PTH", "start": 367, "end": 370}], "disease": [{"text": "mild", "start": 24, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Therefore, SOD1 mutations were present in 20. 0% of familial ALS patients and 1. 9% of sporadic ALS patients, while FUS mutations were responsible for 13. 3% of familial ALS cases, and TARDBP mutations were rare in either familial or sporadic ALS cases.", "output": {"entities": {"gene": [{"text": "FUS", "start": 116, "end": 119}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "This translocation fused two genes, tel and AML1, that have previously been described in chromosomal translocations specific for myeloid malignancies.", "output": {"entities": {"gene": [{"text": "AML1", "start": 44, "end": 48}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Mutations in mismatch repair genes (EXO1, MSH2, and MSH6) were associated with microsatellite instability, increased number of somatic insertions/deletions, and altered mutation signatures in tumors.", "output": {"entities": {"gene": [{"text": "EXO1", "start": 36, "end": 40}], "disease": [{"text": "microsatellite instability", "start": 79, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Some FA gene products involved in redox homeostasis can be summarized as follows: (a) FANCA, FANCC, and FANCG interact with cytochrome P450-related activities and/or respond to oxidative damage; (b) FANCD2 in OS response interacts with forkhead box O3 and ataxia telangiectasia mutated protein; (c) FANCG is found in mitochondria and interacts with PRDX3, and FA-G cells display distorted mitochondria and decreased peroxidase activity; (d) FANCJ (BACH1/BRIP1) is a repressor of haeme oxygenase-1 gene and senses oxidative base damage; (e) antioxidants, such as tempol and resveratrol decrease cancer incidence and haematopoietic defects in Fancd2 (-/-) mice.", "output": {"entities": {"gene": [{"text": "FANCG", "start": 104, "end": 109}], "disease": [{"text": "telangiectasia", "start": 263, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.", "output": {"entities": {"gene": [{"text": "CSMD2", "start": 117, "end": 122}], "disease": [{"text": "depression", "start": 48, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CSMD2", "start": 117, "end": 122}, "tail": {"text": "depression", "start": 48, "end": 58}}]}}, "schema": []}
{"input": "A decreased percentage of CD29 + and CD11b + lymphocytes was observed in hyperthyroid patients in comparison with Hashimoto' s thyroiditis patients and healthy controls.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 37, "end": 42}], "disease": [{"text": "hyperthyroid", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p. E1392X).", "output": {"entities": {"gene": [{"text": "ZNF469", "start": 110, "end": 116}], "disease": [{"text": "brittle cornea syndrome", "start": 48, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZNF469", "start": 110, "end": 116}, "tail": {"text": "brittle cornea syndrome", "start": 48, "end": 71}}]}}, "schema": []}
{"input": "To characterize the impact of PTEN on the IGF-IGFR-IGFBP axis in gastric cancer, we overexpressed PTEN using an adenovirus gene transfer system in human gastric adenocarcinoma cells, SNU-484 and SNU-663, which lack PTEN.", "output": {"entities": {"gene": [{"text": "IGFR", "start": 46, "end": 50}], "disease": [{"text": "adenovirus", "start": 112, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "From normal brain lysates, only heat shock cognate (HSC) 70, GRP75, and HSP110 bind to HspBP1.", "output": {"entities": {"gene": [{"text": "GRP75", "start": 61, "end": 66}], "disease": [{"text": "shock", "start": 37, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Clusterin (CLU) protein is widely distributed in animal tissues and is involved in many different processes, including apoptosis and neoplastic transformation.", "output": {"entities": {"gene": [{"text": "CLU", "start": 11, "end": 14}], "disease": [{"text": "neoplastic transformation", "start": 133, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Among these genes, GABRA1 is a member of the same gene family with GABRA2 that was recently reported as alcoholism susceptibility gene.", "output": {"entities": {"gene": [{"text": "GABRA1", "start": 19, "end": 25}], "disease": [{"text": "alcoholism", "start": 104, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA1", "start": 19, "end": 25}, "tail": {"text": "alcoholism", "start": 104, "end": 114}}]}}, "schema": []}
{"input": "Taken together, our data describe a novel EGR1/AE2/P16/P-ERK signaling pathway in colon carcinogenesis, with implications for pathologic prognosis and for novel therapeutic approaches.", "output": {"entities": {"gene": [{"text": "AE2", "start": 47, "end": 50}], "disease": [{"text": "carcinogenesis", "start": 88, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 0, "end": 4}], "disease": [{"text": "brain malformations", "start": 47, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe using in vitro cleavage assays that RAG proteins directly bind to and introduce nicks into TEL and AML1 translocation regions, which contain several heptamer-like sequences.", "output": {"entities": {"gene": [{"text": "AML1", "start": 117, "end": 121}], "disease": [{"text": "translocation", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "miRNA-dependent cross-talk between VEGF and Ang-2 in hypoxia-induced microvascular dysfunction.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 35, "end": 39}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Y-box binding protein-1 (YB-1) expression in the mammary gland promotes breast carcinoma that demonstrates a high degree of genomic instability.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 25, "end": 29}], "disease": [{"text": "genomic instability", "start": 124, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "This translocation causes expression of the RUNX1-ETO (AML1-ETO) fusion protein, which cooperates with additional mutations in leukemia development.", "output": {"entities": {"gene": [{"text": "AML1", "start": 55, "end": 59}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "TAR DNA-binding protein 43 (TDP-43) and fused in sarcoma (FUS) were recently found to cause familial and sporadic amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "FUS", "start": 58, "end": 61}], "disease": [{"text": "sporadic", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Two novel mutations in the EPM2A gene in a Korean patient with Lafora' s progressive myoclonus epilepsy.", "output": {"entities": {"gene": [{"text": "EPM2A", "start": 27, "end": 32}], "disease": [{"text": "Lafora' s progressive myoclonus epilepsy", "start": 63, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPM2A", "start": 27, "end": 32}, "tail": {"text": "Lafora' s progressive myoclonus epilepsy", "start": 63, "end": 103}}]}}, "schema": []}
{"input": "Our data show that epileptogenesis in SER are associated with regulations of glutamate transporters and mGluR1, which might be potential targets for therapy in genetic epilepsy.", "output": {"entities": {"gene": [{"text": "mGluR1", "start": 104, "end": 110}], "disease": [{"text": "epilepsy", "start": 168, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR1", "start": 104, "end": 110}, "tail": {"text": "epilepsy", "start": 168, "end": 176}}]}}, "schema": []}
{"input": "We present clinical and molecular data on a series of five females with an Xq28 duplication including the MECP2 gene, both isolated and as the result of a translocation, and compare them with the previously reported cases of small duplications in females.", "output": {"entities": {"gene": [{"text": "MECP2 gene", "start": 106, "end": 116}], "disease": [{"text": "translocation", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that bcl-2 overexpression in M14 human melanoma cell line enhances hypoxia-induced VEGF mRNA stability and promoter activation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 99, "end": 103}], "disease": [{"text": "hypoxia", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the B18 + subset was a dominant gamma delta T cell population among intraepithelial lymphocytes (IEL) derived from the human intestine (74 +/-29, p < 0. 002), and two of three IEL clones from patients with coeliac disease were B18 +.", "output": {"entities": {"gene": [{"text": "B18", "start": 17, "end": 20}], "disease": [{"text": "coeliac disease", "start": 219, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the multifactor dimensionality reduction and classification and regression tree analyses identified MGMT F84L as the predominant risk factor for glioma and revealed strong interactions among ionizing radiation exposure, PARP1 A762V, MGMT F84L, and APEX1 E148D.", "output": {"entities": {"gene": [{"text": "APEX1", "start": 261, "end": 266}], "disease": [{"text": "regression", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We investigated mRNA expression levels using reverse transcription-polymerase chain reaction of genes involved in cholesterol uptake (macrophage scavenger receptor (MSR1), scavenger receptor class B member 1 (SRB1), lectin-like oxidized low-density lipoprotein (LDL) receptor 1 (LOX1), CD36, LDL receptor (LDLR)), reverse cholesterol transport (apolipoprotein E (ApoE), ATP-binding cassette sub-family A member 1 (ABCA1)) and inflammation (tumour necrosis factor-alpha (TNF-alpha), macrophage inflammatory protein-1alpha (MIP-1alpha), interleukin-6 (IL-6), tissue factor) in CD14 (+) monocytes from 119 consecutively recruited patients and found that median CD36 mRNA expression levels were significantly increased in patients with CHD compared with controls (111 x 10 (3) vs 96 x 10 (3) copies/10 (6) copies beta-actin, respectively; n = 79 and 40, respectively; P < 0. 05), despite a high interindividual variability in gene expression.", "output": {"entities": {"gene": [{"text": "beta-actin", "start": 809, "end": 819}], "disease": [{"text": "inflammation", "start": 426, "end": 438}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the polymorphisms in the coding region of the IKAP gene are unlikely to contribute to atopic disease risk in the Czech population.", "output": {"entities": {"gene": [{"text": "IKAP", "start": 73, "end": 77}], "disease": [{"text": "atopic", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We studied in control and hypothyroid rats the effect of a cannabinoid agonist on spatial memory, hippocampal phosphorylation of CREB and expression of early genes.", "output": {"entities": {"gene": [{"text": "CREB", "start": 129, "end": 133}], "disease": [{"text": "hypothyroid", "start": 26, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The nonlipid-related properties of apoE include modulating inflammation and oxidation, suppressing T cell proliferation, regulating macrophage functions, and facilitating lipid antigen presentation by CD1 molecules to natural killer T (NKT) cells, and so forth.", "output": {"entities": {"gene": [{"text": "CD1", "start": 201, "end": 204}], "disease": [{"text": "inflammation", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "A novel KIT gene missense mutation in a Japanese family with piebaldism.", "output": {"entities": {"gene": [{"text": "KIT", "start": 8, "end": 11}], "disease": [{"text": "piebaldism", "start": 61, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIT", "start": 8, "end": 11}, "tail": {"text": "piebaldism", "start": 61, "end": 71}}]}}, "schema": []}
{"input": "BRAF and KRAS mutations in stomach cancer.", "output": {"entities": {"gene": [{"text": "KRAS", "start": 9, "end": 13}], "disease": [{"text": "stomach cancer", "start": 27, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRAS", "start": 9, "end": 13}, "tail": {"text": "stomach cancer", "start": 27, "end": 41}}]}}, "schema": []}
{"input": "PTP1B promotes aggressiveness of breast cancer cells by regulating PTEN but not EMT.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 67, "end": 71}], "disease": [{"text": "aggressiveness", "start": 15, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "GPC-3 levels in HCC patients are related to HBV infection, TNM stage, periportal cancerous embolus, and extrahepatic metastasis.", "output": {"entities": {"gene": [{"text": "GPC", "start": 0, "end": 3}], "disease": [{"text": "embolus", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "VEGF, an endothelial-cell-specific mitogen, is abundantly expressed in glioma cells which reside along necrotic areas, whereas flt-1, a tyrosine-kinase receptor for VEGF, is expressed in tumor endothelial cells, but not in endothelial cells in normal adult brain.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "necrotic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In hypoxic or pVHL-defective cells, HIF1α accumulates, binds to HIF1β, and transcriptionally activates genes such as VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 117, "end": 121}], "disease": [{"text": "hypoxic", "start": 3, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Mice carrying a targeted disruption near the N-terminus of whirlin manifest retinal and inner ear defects, reproducing the clinical features of human USH2 disease.", "output": {"entities": {"gene": [{"text": "whirlin", "start": 59, "end": 66}], "disease": [{"text": "USH2", "start": 150, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "whirlin", "start": 59, "end": 66}, "tail": {"text": "USH2", "start": 150, "end": 154}}]}}, "schema": []}
{"input": "As macrophage infiltration and pronounced EMT tumor phenotype correlate with increased grade in NSCLC patients, we propose that TAMs also promote tumor progression by inducing EMT locally in tumors.", "output": {"entities": {"gene": [{"text": "EMT", "start": 42, "end": 45}], "disease": [{"text": "tumor progression", "start": 146, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.", "output": {"entities": {"gene": [{"text": "ADSL", "start": 103, "end": 107}], "disease": [{"text": "adenylosuccinate lyase deficiency", "start": 21, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADSL", "start": 103, "end": 107}, "tail": {"text": "adenylosuccinate lyase deficiency", "start": 21, "end": 54}}]}}, "schema": []}
{"input": "Here we constructed a novel computational model of microRNA control of HIF-VEGF pathway in endothelial cells to quantitatively investigate the role of HRMs in modulating the cellular adaptation to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 75, "end": 79}], "disease": [{"text": "hypoxia", "start": 197, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Novel K12 mutations were linked to Meesmann' s corneal dystrophy in two different patients.", "output": {"entities": {"gene": [{"text": "K12", "start": 6, "end": 9}], "disease": [{"text": "Meesmann' s corneal dystrophy", "start": 35, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K12", "start": 6, "end": 9}, "tail": {"text": "Meesmann' s corneal dystrophy", "start": 35, "end": 64}}]}}, "schema": []}
{"input": "In conclusion, these results suggest that IL-13 overexpression in the rat could lead to podocyte injury with downregulation of nephrin, podocin, and dystroglycan and a concurrent upregulation of B7-1 in the glomeruli, inducing a minimal change-like nephropathy that is characterized by increased proteinuria, hypoalbuminemia, hypercholesterolemia, and fusion of podocyte foot processes.", "output": {"entities": {"gene": [{"text": "nephrin", "start": 127, "end": 134}], "disease": [{"text": "hypercholesterolemia", "start": 326, "end": 346}]}, "relations": {}}, "schema": []}
{"input": "with hepatocellular carcinoma and C2S [64-year-old] with liver cirrhosis, respectively) who were infected with HCV of the same genotype (1b) and had a high-titer HCV RNA in the serum (bDNA probe assay, 17 Meq/ml [C1S] and 15 Meq/ml [C2S]).", "output": {"entities": {"gene": [{"text": "C1S", "start": 213, "end": 216}], "disease": [{"text": "hepatocellular carcinoma", "start": 5, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that TACR3 is unlikely to be related to the development of schizophrenia in the Japanese population.", "output": {"entities": {"gene": [{"text": "TACR3", "start": 25, "end": 30}], "disease": [{"text": "schizophrenia", "start": 79, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TACR3", "start": 25, "end": 30}, "tail": {"text": "schizophrenia", "start": 79, "end": 92}}]}}, "schema": []}
{"input": "Polydatin prevents angiotensin II-induced cardiac hypertrophy and myocardial superoxide generation.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 19, "end": 33}], "disease": [{"text": "cardiac hypertrophy", "start": 42, "end": 61}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 19, "end": 33}, "tail": {"text": "cardiac hypertrophy", "start": 42, "end": 61}}]}}, "schema": []}
{"input": "DHEA up-regulated the expression of peroxisome proliferator-activated receptor (PPAR), PPAR beta, but not PPARgamma or PPARalpha, and the expression of IkappaBalpha gene in myeloma cells and bone marrow stromal cells, which could explain the suppressive effect of DHEA on IL-6 production through the down-regulation of NF-kappaB activity.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 80, "end": 84}], "disease": [{"text": "myeloma", "start": 173, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, SNAT2 not only regulates mTOR but also regulates proteolysis through PI3K and provides a link among acidosis, insulin resistance, and protein wasting in skeletal muscle cells.", "output": {"entities": {"gene": [{"text": "SNAT2", "start": 15, "end": 20}], "disease": [{"text": "acidosis", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Expression of VEGF was correlated significantly with vascular proliferation (p < 10 (-5)) and necrosis (p < 10 (-5)), as well as with microvessel density (p = 0. 002, rs = 0. 41).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 14, "end": 18}], "disease": [{"text": "necrosis", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "There was also evidence of a possible interaction (p = 0. 02, etap (2) = 0. 09) of BDNF genotype with DAT1 3' VNTR with tic severity.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 83, "end": 87}], "disease": [{"text": "tic", "start": 120, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Here, Gas5 is found to be downregulated in glioma specimens and U87 and U251 glioma cell lines.", "output": {"entities": {"gene": [{"text": "U87", "start": 64, "end": 67}], "disease": [{"text": "glioma", "start": 43, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "PROP1 mutations are the most common cause of genetic combined pituitary hormone deficiency (CPHD).", "output": {"entities": {"gene": [{"text": "PROP1", "start": 0, "end": 5}], "disease": [{"text": "pituitary hormone deficiency", "start": 62, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Our current study suggests that ADM-expressing monocytes that infiltrate the coronary vascular wall may be the cause of coronary dilation in the acute phase of KD.", "output": {"entities": {"gene": [{"text": "ADM", "start": 32, "end": 35}], "disease": [{"text": "dilation", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "This work raises the possibility that the PfEMP1 molecules encoded by var-CS2 and varP may be minor contributors to placental malaria but also confirms the importance of the immunodominant, conserved var2csa PfEMP1s in pregnancy associated malaria and strengthens the case for var2csa as a pregnancy-specific malaria vaccine.", "output": {"entities": {"gene": [{"text": "varP", "start": 82, "end": 86}], "disease": [{"text": "malaria", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Prevention of onset of Parkinson' s disease by in vivo gene transfer of human hepatocyte growth factor in rodent model: a model of gene therapy for Parkinson' s disease.", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 78, "end": 102}], "disease": [{"text": "Parkinson' s disease", "start": 23, "end": 43}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "hepatocyte growth factor", "start": 78, "end": 102}, "tail": {"text": "Parkinson' s disease", "start": 23, "end": 43}}]}}, "schema": []}
{"input": "Our results demonstrate that cytogenetics and FISH are useful techniques for the evaluation of the anti-CML effect of immune cells and that CIK or DC-CIK can be appropriate candidates for adoptive immune cell therapy in vivo or for leukemia cell purging ex vivo.", "output": {"entities": {"gene": [{"text": "FISH", "start": 46, "end": 50}], "disease": [{"text": "leukemia", "start": 232, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of the SRD5A2 gene resulted in the identification of 18 mutations in 11 homozygotes, 6 compound heterozygotes, and 4 inferred compound heterozygotes from 23 families with 5 alpha-reductase deficiency.", "output": {"entities": {"gene": [{"text": "SRD5A2", "start": 26, "end": 32}], "disease": [{"text": "5 alpha-reductase deficiency", "start": 190, "end": 218}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SRD5A2", "start": 26, "end": 32}, "tail": {"text": "5 alpha-reductase deficiency", "start": 190, "end": 218}}]}}, "schema": []}
{"input": "Furthermore, distribution of beta-catenin was observed and data showed beta-catenin was accumulated in the nucleus in Mock-231, while disappeared from the nucleus and mainly accumulated near the cell surface membrane in E-cad-231.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 29, "end": 41}], "disease": [{"text": "cad", "start": 222, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Taken as a whole, these observations demonstrate that DCX-related disorders are clinically heterogeneous, with severe sporadic and milder familial subcortical band heterotopia, each associated with specific DCX mutations.", "output": {"entities": {"gene": [{"text": "DCX", "start": 54, "end": 57}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "This study was to explore the correlations of TS 5'-UTR polymorphism to lymph node metastasis of esophageal squamous cell carcinoma (ESCC) and the expression of TS protein.", "output": {"entities": {"gene": [{"text": "UTR", "start": 52, "end": 55}], "disease": [{"text": "metastasis", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, interference with C3 activation with complement receptor-related gene y-Ig was associated with reduced vein graft thickening, reduced C3 and C9 deposition, and reduced inflammation as assessed by analysis of influx of inflammatory cells, such as leukocytes, T cells, and monocytes.", "output": {"entities": {"gene": [{"text": "gene y", "start": 78, "end": 84}], "disease": [{"text": "inflammation", "start": 181, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that 11 β-HSD1 activity in liver and adipose tissue is a common mediator of hypertension, hypertriglyceridemia, glucose intolerance, and insulin resistance in metabolic syndrome.", "output": {"entities": {"gene": [{"text": "HSD1", "start": 32, "end": 36}], "disease": [{"text": "glucose intolerance", "start": 134, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Amphiphilic dimers and monomers and hydrophilic dimers of AChE were identified in BHP and PC tissues.", "output": {"entities": {"gene": [{"text": "AChE", "start": 58, "end": 62}], "disease": [{"text": "PC", "start": 90, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AChE", "start": 58, "end": 62}, "tail": {"text": "PC", "start": 90, "end": 92}}]}}, "schema": []}
{"input": "The hypoxic model to simulate hypoxic microenvironment in solid tumors was established and the effect of hydrocamptothecin (HCPT) on the hypoxia-induced over-expression of HIF-1alpha and VEGF genes was explored.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 187, "end": 191}], "disease": [{"text": "hypoxia", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Experimental hypoxia was confirmed by significant upregulation of VEGF mRNA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 66, "end": 70}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P & lt; 1 x 10 (-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3.", "output": {"entities": {"gene": [{"text": "CFB", "start": 160, "end": 163}], "disease": [{"text": "SLE", "start": 148, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CFB", "start": 160, "end": 163}, "tail": {"text": "SLE", "start": 148, "end": 151}}]}}, "schema": []}
{"input": "In the present study we have used FISH to analyze the incidence of trisomy 8 in acute leukemias following either a primary myeloproliferative disorder (MPD) or a myelodysplastic syndrome (MDS) and correlated it with both the immunophenotype and the cell-cycle distribution of the leukemic blast cells.", "output": {"entities": {"gene": [{"text": "FISH", "start": 34, "end": 38}], "disease": [{"text": "myeloproliferative disorder", "start": 123, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Nrf2-mediated transcriptional induction of antioxidant response in mouse embryos exposed to ethanol in vivo: implications for the prevention of fetal alcohol spectrum disorders.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 0, "end": 4}], "disease": [{"text": "fetal alcohol spectrum disorders", "start": 144, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nrf2", "start": 0, "end": 4}, "tail": {"text": "fetal alcohol spectrum disorders", "start": 144, "end": 176}}]}}, "schema": []}
{"input": "Since Duchenne muscular dystrophy was attributed to mutations in the dystrophin gene, more than 30 genes have been found to be causally related with muscular dystrophies, about half of them encoding proteins of the dystrophin-glycoprotein complex (DGC).", "output": {"entities": {"gene": [{"text": "dystrophin", "start": 69, "end": 79}], "disease": [{"text": "muscular dystrophies", "start": 149, "end": 169}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "dystrophin", "start": 69, "end": 79}, "tail": {"text": "muscular dystrophies", "start": 149, "end": 169}}]}}, "schema": []}
{"input": "Multivariate analysis, simultaneously considering other risk factors, including age at menarche, nulliparity or age at first full-term pregnancy, body mass index (BMI), hormone replacement therapy (HRT) and smoking status, showed that the NAT2 slow acetylator genotype was associated with an increased risk with borderline significance (Odds Ratio, 1. 81; 95% CI, 1. 01-3. 31).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 239, "end": 243}], "disease": [{"text": "body mass index", "start": 146, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "CXCR3 was expressed by T cells and by astrocytes within the plaque.", "output": {"entities": {"gene": [{"text": "CXCR3", "start": 0, "end": 5}], "disease": [{"text": "plaque", "start": 60, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Concerning the Th1 and Th17 cells producing IFN-γ, IL-2, and TNF-α, a lower frequency was noted in chronic urticaria patients compared to HG.", "output": {"entities": {"gene": [{"text": "IFN", "start": 44, "end": 47}], "disease": [{"text": "chronic urticaria", "start": 99, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Consequently, mutations in Fam20C cause an osteosclerotic bone dysplasia in humans known as Raine syndrome.", "output": {"entities": {"gene": [{"text": "Fam20C", "start": 27, "end": 33}], "disease": [{"text": "Raine syndrome", "start": 92, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Fam20C", "start": 27, "end": 33}, "tail": {"text": "Raine syndrome", "start": 92, "end": 106}}]}}, "schema": []}
{"input": "CRF alone produced a fall in blood pressure and heart rate.", "output": {"entities": {"gene": [{"text": "CRF", "start": 0, "end": 3}], "disease": [{"text": "fall in blood pressure", "start": 21, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF", "start": 0, "end": 3}, "tail": {"text": "fall in blood pressure", "start": 21, "end": 43}}]}}, "schema": []}
{"input": "Surprisingly, 12 sequence alterations in the spatacsin gene (one of which is novel, IVS30 + 1 G & gt; A) were identified in 10 unrelated pedigrees with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival.", "output": {"entities": {"gene": [{"text": "spatacsin", "start": 45, "end": 54}], "disease": [{"text": "juvenile amyotrophic lateral sclerosis", "start": 172, "end": 210}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "spatacsin", "start": 45, "end": 54}, "tail": {"text": "juvenile amyotrophic lateral sclerosis", "start": 172, "end": 210}}]}}, "schema": []}
{"input": "For ACE I/D polymorphism, significant age-genotype interaction was detected on cross-sectional observation; the relation of body mass index, waist circumference, and diastolic blood pressure to age was significantly greater in persons with the DD genotype than in those with the ID or II genotype.", "output": {"entities": {"gene": [{"text": "ACE", "start": 4, "end": 7}], "disease": [{"text": "waist circumference", "start": 141, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "A local immune responses to TEM8 may increase inflammation or tumor necrosis within the tumor, resulting in improved Ag presentation of HER2/neu and hTYRP1/hgp75.", "output": {"entities": {"gene": [{"text": "HER2/neu", "start": 136, "end": 144}], "disease": [{"text": "inflammation", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Several ALS genes have been identified as their mutations can lead to familial ALS, including the recently reported RNA-binding protein fused in sarcoma (Fus).", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 116, "end": 135}], "disease": [{"text": "sarcoma", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Importantly, blockade of JNK signaling with SP600125 or small interfering RNAs targeting JNK1 or JNK2 significantly reduced the CD133 (+)/Nestin (+) population and suppressed sphere formation, colony formation in soft agar, and expression of stem cell markers in sphere-cultured glioma cells.", "output": {"entities": {"gene": [{"text": "JNK2", "start": 97, "end": 101}], "disease": [{"text": "glioma", "start": 279, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "JunB-CBFbeta signaling is essential to maintain sarcomeric Z-disc structure and when defective leads to heart failure.", "output": {"entities": {"gene": [{"text": "JunB", "start": 0, "end": 4}], "disease": [{"text": "heart failure", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Increased surface expression of CD18 and CD11b in leukocytes after tourniquet ischemia during elective hand surgery.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 41, "end": 46}], "disease": [{"text": "ischemia", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Inhibitor of differentiation 4 drives brain tumor-initiating cell genesis through cyclin E and notch signaling.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 82, "end": 90}], "disease": [{"text": "brain tumor", "start": 38, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Because mutations in the otoferlin C2 domains that cause deafness in humans impair the ability of otoferlin to bind syntaxin, SNAP-25, and the Cav1. 3 calcium channel, it is these interactions that may mediate regulation by otoferlin of hair cell synaptic exocytosis critical to inner ear hair cell function.", "output": {"entities": {"gene": [{"text": "SNAP-25", "start": 126, "end": 133}], "disease": [{"text": "deafness", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "This review focuses on the roles of Pin1 in neurodegenerative disorders including Alzheimer' s disease, Parkinson' s disease, amyotrophic lateral sclerosis, and Frontotemporal dementia associated with parkinsonism linked to chromosome 17.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 36, "end": 40}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 126, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Alpha1-Antitrypsin (AAT) protects elastic tissue and may play a role in atherogenesis.", "output": {"entities": {"gene": [{"text": "AAT", "start": 20, "end": 23}], "disease": [{"text": "atherogenesis", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The loss of the MMR proteins, which is indicative of microsatellite instability, was observed in one PGA (3%), 12 foveolar-type adenomas (52%), one intestinal-type adenoma (2%) and five adenocarcinomas (7%).", "output": {"entities": {"gene": [{"text": "MMR", "start": 16, "end": 19}], "disease": [{"text": "microsatellite instability", "start": 53, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We show that depletion of MUS81 and GEN1, or SLX4 and GEN1, from Bloom' s syndrome cells results in severe chromosome abnormalities, such that sister chromatids remain interlinked in a side-by-side arrangement and the chromosomes are elongated and segmented.", "output": {"entities": {"gene": [{"text": "MUS81", "start": 26, "end": 31}], "disease": [{"text": "chromosome abnormalities", "start": 107, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Our data showed that CIITA is a repressor of Cyr61 synthesis in osteoblasts, and it might play a protective role in the pathogenesis of bone resorption in apical periodontitis, possibly through down-regulating the expression of Cyr61 in osteoblasts.", "output": {"entities": {"gene": [{"text": "CIITA", "start": 21, "end": 26}], "disease": [{"text": "bone resorption", "start": 136, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Notably, silencing MET in already established metastases led to their almost complete regression.", "output": {"entities": {"gene": [{"text": "MET", "start": 19, "end": 22}], "disease": [{"text": "regression", "start": 86, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities.", "output": {"entities": {"gene": [{"text": "CDC6", "start": 41, "end": 45}], "disease": [{"text": "Meier-Gorlin syndrome", "start": 122, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDC6", "start": 41, "end": 45}, "tail": {"text": "Meier-Gorlin syndrome", "start": 122, "end": 143}}]}}, "schema": []}
{"input": "The proliferative noduli of the fibromatosis were characterized by a diffuse immunostaining for alpha-smooth muscle actin, and single cells positive for desmin and the Ki-67 antigen.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 102, "end": 121}], "disease": [{"text": "fibromatosis", "start": 32, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "This translocation resulted in a chimeric transcript fusing the PDGFRbeta gene on 5q33 with a novel gene, CEV14, located at 14q32.", "output": {"entities": {"gene": [{"text": "CEV14", "start": 106, "end": 111}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Further, the PPARα/HIF1α interplay regulates the expression of the pro-inflammatory cytokine interleukin-6, the hypoxia survival factor carbonic anhydrase IX and the plasma lipid carrier apolipoprotein E. Our data demonstrate the importance of exploring the role of nuclear receptors (PPARα/PPARγ) in the regulation of pro-inflammatory pathways, with the aim to thwart breast cancer stem cells functioning.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 291, "end": 296}], "disease": [{"text": "hypoxia", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the mismatch repair (MMR) enzymes hMLH1 and hMSH6 are known causes of hereditary nonpolyposis colorectal cancer and act by inducing a mutator phenotype characterized by microsatellite instability.", "output": {"entities": {"gene": [{"text": "MMR", "start": 34, "end": 37}], "disease": [{"text": "microsatellite instability", "start": 182, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "However, studies of MFG-E8 expression in humans with ulcerative colitis are lacking.", "output": {"entities": {"gene": [{"text": "MFG-E8", "start": 20, "end": 26}], "disease": [{"text": "ulcerative colitis", "start": 53, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.", "output": {"entities": {"gene": [{"text": "FOXF1", "start": 6, "end": 11}], "disease": [{"text": "alveolar capillary dysplasia", "start": 56, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXF1", "start": 6, "end": 11}, "tail": {"text": "alveolar capillary dysplasia", "start": 56, "end": 84}}]}}, "schema": []}
{"input": "Using RNase protection analysis, we studied the expression of follistatin in rat and mouse liver tumors as a possible mechanism to overcome activin growth control.", "output": {"entities": {"gene": [{"text": "follistatin", "start": 62, "end": 73}], "disease": [{"text": "liver tumors", "start": 91, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "follistatin", "start": 62, "end": 73}, "tail": {"text": "liver tumors", "start": 91, "end": 103}}]}}, "schema": []}
{"input": "A new 17p13. 3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X; 17 translocation.", "output": {"entities": {"gene": [{"text": "PAFAH1B1", "start": 46, "end": 54}], "disease": [{"text": "translocation", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The deleted region contained 17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1.", "output": {"entities": {"gene": [{"text": "PRICKLE2", "start": 147, "end": 155}], "disease": [{"text": "central nervous system disorders", "start": 92, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "EDRF (endothelium-derived relaxing factor)/nitric oxide does not seem to play an important role in the peptide-produced hypotension.", "output": {"entities": {"gene": [{"text": "EDRF", "start": 0, "end": 4}], "disease": [{"text": "hypotension", "start": 120, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether the GSTT1, GSTM1 and GSTP1 gene polymorphisms modified the associations between TRAP exposure during the first year of life and asthma, wheeze and hay fever in adolescence.", "output": {"entities": {"gene": [{"text": "TRAP", "start": 104, "end": 108}], "disease": [{"text": "asthma", "start": 152, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Intriguingly, deletion of the Slc25a3 gene from the heart long-term resulted in profound hypertrophy with ventricular dilation and depressed cardiac function, all features that reflect the cardiomyopathy observed in humans with mutations in SLC25A3.", "output": {"entities": {"gene": [{"text": "SLC25A3", "start": 241, "end": 248}], "disease": [{"text": "hypertrophy", "start": 89, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In contrast, factors such as nevus density and freckling propensity were strongly associated only with p53-immunonegative melanoma (OR 8. 6 for > 25 moles; OR 3. 0 for heavy facial freckling).", "output": {"entities": {"gene": [{"text": "p53", "start": 103, "end": 106}], "disease": [{"text": "freckling", "start": 47, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In RCC786-0 VHL + cells, which were stably transfected with a wild-type copy of VHL, the mRNA levels of VEGF and Ang-4 were suppressed and the hypoxic response was restored.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 104, "end": 108}], "disease": [{"text": "hypoxic", "start": 143, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.", "output": {"entities": {"gene": [{"text": "GUF1", "start": 123, "end": 127}], "disease": [{"text": "West syndrome", "start": 0, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GUF1", "start": 123, "end": 127}, "tail": {"text": "West syndrome", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "Transactive response DNA-binding protein 43 ubiquitinated inclusions are a hallmark of amyotrophic lateral sclerosis and of frontotemporal lobar degeneration with ubiquitin-positive inclusions.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 21, "end": 40}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 87, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Compared with the controls, PCOS patients showed significantly higher levels of 3 & #946;-hydroxysteroid dehydrogenase1-2 (3 & #946;-HSD1-2), aldo-keto reductase 1C 1-3 (AKR1C1-3) and leptin, but lower level of P450 aromatase and 5 & #945;-reductase 1.", "output": {"entities": {"gene": [{"text": "AKR1C1", "start": 170, "end": 176}], "disease": [{"text": "PCOS", "start": 28, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKR1C1", "start": 170, "end": 176}, "tail": {"text": "PCOS", "start": 28, "end": 32}}]}}, "schema": []}
{"input": "In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.", "output": {"entities": {"gene": [{"text": "K17", "start": 57, "end": 60}], "disease": [{"text": "PC-2", "start": 85, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K17", "start": 57, "end": 60}, "tail": {"text": "PC-2", "start": 85, "end": 89}}]}}, "schema": []}
{"input": "Association of estrogen receptor β and estrogen-related receptor α gene polymorphisms with bone mineral density in postmenopausal women.", "output": {"entities": {"gene": [{"text": "estrogen-related receptor α gene", "start": 39, "end": 71}], "disease": [{"text": "bone mineral density", "start": 91, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Arsenic induces apoptosis of multidrug-resistant human myeloid leukemia cells that express Bcr-Abl or overexpress MDR, MRP, Bcl-2, or Bcl-x (L).", "output": {"entities": {"gene": [{"text": "MRP", "start": 119, "end": 122}], "disease": [{"text": "myeloid leukemia", "start": 55, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "A positive correlation (p = 0. 0015) between TNF-β and IFN-γ was observed in the asymptomatic group, but a positive correlation was only observed (p = 0. 0180) between TNF-α and IL-6 in the HAM/TSP group.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 178, "end": 182}], "disease": [{"text": "asymptomatic", "start": 81, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "YB-1 and ABCB5 were up regulated in the doxorubicin treated MCF-7 cells that resulted in certain degree of genomic instability that accompanied by the drug resistance phenotype.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 0, "end": 4}], "disease": [{"text": "genomic instability", "start": 107, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The number of smoking pack-years and smoke-free years predicted the prevalence of EGFR mutations (areas under receiver operating characteristic curve = 0. 78 and 0. 77, respectively).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 82, "end": 86}], "disease": [{"text": "smoking", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "In the present study we investigated the expression of Smad4 and Smad7 in thyroid cell lines (NPA papillary carcinoma, WRO follicular carcinoma and ARO anaplastic carcinoma) by RT-PCR and immunocytochemistry.", "output": {"entities": {"gene": [{"text": "Smad4", "start": 55, "end": 60}], "disease": [{"text": "follicular carcinoma", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The expression of DNA methyltransferase (DNMT) mRNA was assessed in several brain regions of individuals who had committed suicide and had been diagnosed with major depression relative to that of individuals who had died suddenly as a result of factors other than suicide.", "output": {"entities": {"gene": [{"text": "DNMT", "start": 41, "end": 45}], "disease": [{"text": "suicide", "start": 123, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "A novel t (4; 22) (q31; q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor.", "output": {"entities": {"gene": [{"text": "SMARCA5", "start": 47, "end": 54}], "disease": [{"text": "extraskeletal Ewing sarcoma", "start": 65, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCA5", "start": 47, "end": 54}, "tail": {"text": "extraskeletal Ewing sarcoma", "start": 65, "end": 92}}]}}, "schema": []}
{"input": "These mutations eventually converge on the abnormalities of the IL-6/Gp130/Jak2-mediated STAT3 transactivation on target genes, indicative of the dysregulation of JAK/STAT signalling present in HIES.", "output": {"entities": {"gene": [{"text": "Gp130", "start": 69, "end": 74}], "disease": [{"text": "abnormalities", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Implementing this systematic approach, we: (i) discovered 177 putative SZ risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain.", "output": {"entities": {"gene": [{"text": "BTG1", "start": 324, "end": 328}], "disease": [{"text": "SZ", "start": 71, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BTG1", "start": 324, "end": 328}, "tail": {"text": "SZ", "start": 71, "end": 73}}]}}, "schema": []}
{"input": "Corticosterone treatment during adolescence induces down-regulation of reelin and NMDA receptor subunit GLUN2C expression only in male mice: implications for schizophrenia.", "output": {"entities": {"gene": [{"text": "GLUN2C", "start": 104, "end": 110}], "disease": [{"text": "schizophrenia", "start": 158, "end": 171}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLUN2C", "start": 104, "end": 110}, "tail": {"text": "schizophrenia", "start": 158, "end": 171}}]}}, "schema": []}
{"input": "Plasma COL3A1 was increased in CRC patients (n = 86) by 5. 4 fold comparing with healthy individuals, enteritis and polyps patients.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 7, "end": 13}], "disease": [{"text": "polyps", "start": 116, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Analysis of the eyes of Abca4 (-/-) Rdh8 (-/-) mice that display light-induced retinal degeneration indicates that 11-cis-retinal and docosahexaenoic acid (DHA) levels were significantly decreased as compared with the eyes of control dark-adapted C57BL/6J mice.", "output": {"entities": {"gene": [{"text": "Abca4", "start": 24, "end": 29}], "disease": [{"text": "retinal degeneration", "start": 79, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The results of preliminary immunoblotting in 1 patient with focal cortical dysplasia showed that the low-molecular-weight form of MAP2 (MAP2c) was strongly expressed in the dysplastic cortex, suggesting that MAP2c may be a major component contributing to the increased expression of MAP2 in the large neurons of cortical dysplasia.", "output": {"entities": {"gene": [{"text": "MAP2", "start": 130, "end": 134}], "disease": [{"text": "weight", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "To test the hypothesis that a locus in or near the human major histocompatibility complex (HLA) contributes to both involuntary fetal loss and neural tube defects (NTD), we evaluated sharing of antigens of the HLA-A, HLA-B, or HLA-DR loci of couples who had three or more first-trimester spontaneous abortions or who had a child with an NTD (myelomeningocele or anencephaly).", "output": {"entities": {"gene": [{"text": "HLA-B", "start": 217, "end": 222}], "disease": [{"text": "myelomeningocele", "start": 342, "end": 358}]}, "relations": {}}, "schema": []}
{"input": "Haemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular Hb (MCH), serum iron (Fe) serum transferrin (Trf), serum ferritin (Ft) and an inflammtory proteic profil (IPP) were measured.", "output": {"entities": {"gene": [{"text": "MCH", "start": 70, "end": 73}], "disease": [{"text": "mean corpuscular volume", "start": 18, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The TT/CT genotype of GRK4 A486V was associated with decreased risk for HBP relative to the CC genotype after adjusting for age, sex, and body mass index (p = 0. 028).", "output": {"entities": {"gene": [{"text": "HBP", "start": 72, "end": 75}], "disease": [{"text": "body mass index", "start": 138, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Deletion breakpoint sequencing allowed us to develop rapid polymerase chain reaction-based mutation screening, which confirmed the presence of the deletions in affected and asymptomatic individuals of families A, C, and M. While the exon 8 and exon 1-3 deletions appear to be novel, the MSH2 1-6 deletion found in family C is identical to the one recently documented in two branches of another unrelated Italian family (family V + Va).", "output": {"entities": {"gene": [{"text": "MSH2", "start": 287, "end": 291}], "disease": [{"text": "asymptomatic", "start": 173, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "The HepG2 cells were cultured in 21% O2 (normoxia) or 1% O2 (hypoxia) for 24 h. The release of netrin-1 from hypoxic cells was detected by ELISA.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 95, "end": 103}], "disease": [{"text": "hypoxic", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Indeed, patients with AD IL-17F deficiency or AR IL-17RA or ACT1 deficiency display CMC and, to a lesser extent, superficial staphylococcal diseases.", "output": {"entities": {"gene": [{"text": "IL-17RA", "start": 49, "end": 56}], "disease": [{"text": "staphylococcal diseases", "start": 125, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "All cases were studied by combined binary ratio multicolor fluorescence in situ hybridization (FISH) and with FISH using locus-specific probes for both arms of chromosome 8, the subtelomeric regions of 8p and 8q, and the leukemia-associated genes FGFR1, MOZ, ETO, and MYC.", "output": {"entities": {"gene": [{"text": "FISH", "start": 95, "end": 99}], "disease": [{"text": "leukemia", "start": 221, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these findings suggest that AT-101 may preferentially induce apoptosis in leukemia cells by interrupting the RhoA/ROCK1/PTEN pathway, leading to Akt inactivation, Mcl-1 downregulation, Bad dephosphorylation, and Bax translocation, which culminate in mitochondrial injury and apoptosis.", "output": {"entities": {"gene": [{"text": "Mcl-1", "start": 177, "end": 182}], "disease": [{"text": "translocation", "start": 230, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Using a combination of immunohistochemical studies [cytokeratins 7 and 20, E-cadherin, beta-catenin, p53, MLH-1, MSH-2, MSH-6, and O6-methylguanine methyltransferase (MGMT)], DNA sequencing [beta-catenin, adenomatous polyposis coli (APC), p53, KRAS, and BRAF], and a polymerase chain reaction-based microsatellite instability assay; we assessed each case for abnormalities in the Wnt signaling and mitogen-activated protein kinase pathways and DNA repair mechanisms.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 75, "end": 85}], "disease": [{"text": "abnormalities", "start": 359, "end": 372}]}, "relations": {}}, "schema": []}
{"input": "(3) A significant gene environment interaction, super multiplicative type 4 interaction, was shown between both ACT AT and TT genotypes and primary hypertension with an interaction index (r) value of 2. 84 and an OR value of 15. 92.", "output": {"entities": {"gene": [{"text": "ACT", "start": 112, "end": 115}], "disease": [{"text": "primary hypertension", "start": 140, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Moreover, protein and mRNA expressions of MLN64 that regulating cholesterol transport and activating protein 2 & #947; (AP2 & #947;/Tfap2c) that controlling P450scc/CYP11a gene expression in placenta were both decreased following maternal cocaine use in pregnancy.", "output": {"entities": {"gene": [{"text": "Tfap2c", "start": 132, "end": 138}], "disease": [{"text": "cocaine use", "start": 239, "end": 250}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Tfap2c", "start": 132, "end": 138}, "tail": {"text": "cocaine use", "start": 239, "end": 250}}]}}, "schema": []}
{"input": "Three genes in the 4q33-35. 1 haplotype region were also differentially expressed in schizophrenia in postmortem dorsolateral prefrontal cortex: AGA, HMGB2, and SCRG1.", "output": {"entities": {"gene": [{"text": "AGA", "start": 145, "end": 148}], "disease": [{"text": "schizophrenia", "start": 85, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AGA", "start": 145, "end": 148}, "tail": {"text": "schizophrenia", "start": 85, "end": 98}}]}}, "schema": []}
{"input": "We found: (1) the BCSG1 gene was universally demethylated in all breast tissues regardless of the tissue state, although 50-60% of the samples displayed methylated products as well; (2) DNA methylation correlated to the expression of the BCSG1 gene in tumor tissues, but not in non-neoplastic adjacent and benign tissues; (3) breast tumor tissues expressed lower BCSG1 than non-neoplastic adjacent tissues.", "output": {"entities": {"gene": [{"text": "BCSG1", "start": 18, "end": 23}], "disease": [{"text": "non-neoplastic", "start": 278, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expression level of an epigenetically regulated schizophrenia candidate gene GAD67 was strongly and negatively correlated with the mRNA expression levels of HDAC1, HDAC3 and HDAC4 levels.", "output": {"entities": {"gene": [{"text": "HDAC4", "start": 183, "end": 188}], "disease": [{"text": "schizophrenia", "start": 57, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC4", "start": 183, "end": 188}, "tail": {"text": "schizophrenia", "start": 57, "end": 70}}]}}, "schema": []}
{"input": "], solute carrier family 1, member 6 [SLC1A6], F-box protein 7 [FBX07] and vacuole 14 protein homolog [VAC14]) distinguished most classes of fatigued subjects from healthy subjects, whereas others (patched homolog 2 [PTCH2] and T-cell leukemia/lymphoma [TCL1A]) differentiated specific fatigue classes.", "output": {"entities": {"gene": [{"text": "F-box protein 7", "start": 47, "end": 62}], "disease": [{"text": "lymphoma", "start": 244, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "MMR status was determined by a microsatellite instability assay.", "output": {"entities": {"gene": [{"text": "MMR", "start": 0, "end": 3}], "disease": [{"text": "microsatellite instability", "start": 31, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).", "output": {"entities": {"gene": [{"text": "C8ORF37", "start": 13, "end": 20}], "disease": [{"text": "BBS21", "start": 50, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C8ORF37", "start": 13, "end": 20}, "tail": {"text": "BBS21", "start": 50, "end": 55}}]}}, "schema": []}
{"input": "FISH showed positivity for the IgH/BCL2 translocation in 96% of patients and PCR in 59% of patients.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 35, "end": 39}], "disease": [{"text": "translocation", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "FIP1L1-PDGFRA-Positive Chronic Eosinophilic Leukemia: A Low-Burden Disease with Dramatic Response to Imatinib-A Report of 5 Cases from South India.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 7, "end": 13}], "disease": [{"text": "Chronic Eosinophilic Leukemia", "start": 23, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDGFRA", "start": 7, "end": 13}, "tail": {"text": "Chronic Eosinophilic Leukemia", "start": 23, "end": 52}}]}}, "schema": []}
{"input": "Seventy-three percent of patients were found to have LOH at one or more loci on chromosome bands 9p21-p22, and LOH occurred more frequently in patients with a family history of upper gastrointestinal cancer than in those with a negative family history (P = 0. 01, global permutation test).", "output": {"entities": {"gene": [{"text": "p22", "start": 102, "end": 105}], "disease": [{"text": "gastrointestinal cancer", "start": 183, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported on a high prevalence of high renin essential hypertension in psoriasis.", "output": {"entities": {"gene": [{"text": "renin", "start": 57, "end": 62}], "disease": [{"text": "psoriasis", "start": 89, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "renin", "start": 57, "end": 62}, "tail": {"text": "psoriasis", "start": 89, "end": 98}}]}}, "schema": []}
{"input": "We conclude that the intact carboxy-terminal cell-binding domain of TSP is essential for the adhesion of sickle RBCs under flow conditions.", "output": {"entities": {"gene": [{"text": "TSP", "start": 68, "end": 71}], "disease": [{"text": "adhesion", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We have generated Ad-TetON, a replication-deficient adenovirus that constitutively expresses the reverse tet-responsive transcriptional activator, and Ad-TRE-p27, which drives expression of p27 under the control of the tet response element.", "output": {"entities": {"gene": [{"text": "TRE", "start": 154, "end": 157}], "disease": [{"text": "adenovirus", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "When grouping the patients by the VDR gene polymorphism, only PTH continued to be an independent predictor of spinal bone density in the bb allele subgroup (R2 adj.", "output": {"entities": {"gene": [{"text": "PTH", "start": 62, "end": 65}], "disease": [{"text": "bone density", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the HLA-DRB1 * 1101 + haplotypes were significantly higher in asthmatics compared with atopic and non-atopic controls (19. 6% vs 2. 2% vs 2. 3%, PC < 0. 05).", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 17, "end": 25}], "disease": [{"text": "atopic", "start": 100, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Novel symptoms associated with NKX2-1 mutations comprise abnormal height, bouts of fever and cardiac septum defects.", "output": {"entities": {"gene": [{"text": "NKX2-1", "start": 31, "end": 37}], "disease": [{"text": "fever", "start": 83, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Hemophilia A is a common X-linked bleeding disorder caused by mutations in the coagulation factor VIII gene.", "output": {"entities": {"gene": [{"text": "coagulation factor VIII", "start": 79, "end": 102}], "disease": [{"text": "Hemophilia A", "start": 0, "end": 12}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor VIII", "start": 79, "end": 102}, "tail": {"text": "Hemophilia A", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "In the present study, the potential roles of c-Jun and transforming growth factor (TGF)-beta 1 in AM-induced inflammation and fibrogenesis were examined after intratracheal administration of AM (1. 83 micromol/day on days 0 and 2) or an equivalent volume (0. 4 ml) of distilled water to male Fischer 344 rats.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 45, "end": 50}], "disease": [{"text": "inflammation", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Our purpose was to verify the extent to which exonic deletions or duplications of the DCX gene would account for sporadic SBH with A > P gradient but normal gene sequencing.", "output": {"entities": {"gene": [{"text": "DCX gene", "start": 86, "end": 94}], "disease": [{"text": "sporadic", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The abilities of adhesion and invasion were inhibited significantly by Ad-TIMP3 as well.", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 74, "end": 79}], "disease": [{"text": "adhesion", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "We conclude that U1i represents an alternative to RNAi for the therapeutic silencing of pathologically upregulated genes and demonstrate the functional relevance of Pim-1 oncogene knockdown in glioblastoma.", "output": {"entities": {"gene": [{"text": "Pim-1 oncogene", "start": 165, "end": 179}], "disease": [{"text": "glioblastoma", "start": 193, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pim-1 oncogene", "start": 165, "end": 179}, "tail": {"text": "glioblastoma", "start": 193, "end": 205}}]}}, "schema": []}
{"input": "Mutations have been identified in dynein motor (DYNC2H1), in intraflagellar transport (IFT) complexes (IFT80, IFT122, IFT43, WDR35, WDR19, and TTC21B) as well as in genes responsible for the basal body (NEK1, EVC, and EVC2).", "output": {"entities": {"gene": [{"text": "EVC2", "start": 218, "end": 222}], "disease": [{"text": "EVC", "start": 209, "end": 212}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EVC2", "start": 218, "end": 222}, "tail": {"text": "EVC", "start": 209, "end": 212}}]}}, "schema": []}
{"input": "As RBM12 has not previously been linked to psychosis, this work provides new insight into psychiatric disease.", "output": {"entities": {"gene": [{"text": "RBM12", "start": 3, "end": 8}], "disease": [{"text": "psychosis", "start": 43, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RBM12", "start": 3, "end": 8}, "tail": {"text": "psychosis", "start": 43, "end": 52}}]}}, "schema": []}
{"input": "We thus focused on two enzymes, cystathionine-gamma-lyase (CSE) that generates H (2) S from l-cysteine, and rhodanese that directly or indirectly detoxifies H (2) S, particularly in relation to the colitis induced by dextran sulfate sodium (DSS) in mice.", "output": {"entities": {"gene": [{"text": "CSE", "start": 59, "end": 62}], "disease": [{"text": "colitis", "start": 198, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "AML1 is also involved in a translocation with chromosome 3 that is seen in patients with therapy-related acute myeloid leukemia and myelodysplastic syndrome and in chronic myelogenous leukemia in blast crisis.", "output": {"entities": {"gene": [{"text": "AML1", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of Yki caused cardiac dilation without loss of cardiomyocytes and prevented Raf-induced cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "Yki", "start": 13, "end": 16}], "disease": [{"text": "dilation", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Six genes were associated with preterm birth among European Americans: interleukin 12A (IL12A); colony-stimulating factor 2 (CSF2); interferon γ receptor 2 (IFNGR2); killer cell immunoglobulin-like receptor, three domain, long cytoplasmic tail, 2 (KIR3DL2); interleukin 4 (IL4); and interleukin 13 (IL13).", "output": {"entities": {"gene": [{"text": "CSF2", "start": 125, "end": 129}], "disease": [{"text": "preterm birth", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Although it is not yet possible to identify the genes targeted by the deletion, interphase FISH screening showed that the deletion was seen in SMZL (19/56 = 34%) and splenic B-cell lymphoma/leukaemia unclassifiable (3/9 = 33%), but not in 39 cases of other splenic lymphomas including chronic lymphocytic leukaemia (n = 14), hairy cell leukaemia (4), mantle cell lymphoma (12), follicular lymphoma (6), and others.", "output": {"entities": {"gene": [{"text": "FISH", "start": 91, "end": 95}], "disease": [{"text": "leukaemia", "start": 190, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "We have constructed a long-range physical map for 12 markers, including genes for GRIA4, IL1BC, and ACAT, across 9 Mb of chromosome 11q22-q23 in the region of the major locus for ataxia-telangiectasia (A-T).", "output": {"entities": {"gene": [{"text": "ACAT", "start": 100, "end": 104}], "disease": [{"text": "telangiectasia", "start": 186, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "The clinical responses were correlated with the expression of the TLR4 gene of ascites cells.", "output": {"entities": {"gene": [{"text": "TLR4 gene", "start": 66, "end": 75}], "disease": [{"text": "ascites", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Phenotypic analysis of the B domain-deleted FVIIISQ variants expressed in CHO cells correlated well with the patients' reduced FVIII activity and, in addition, surface plasmon resonance studies demonstrated that both missense mutations were associated with increased rates of A2 domain dissociation following thrombin activation.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 44, "end": 49}], "disease": [{"text": "dissociation", "start": 286, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "Histological grade was according to Isaacson' s criteria of GLH; CD20, UCHL-1 (CD45RO), anti-kappa (kappa), anti-lambda (lambda) and Ki-67 were used for immunohistochemical staining; semi-nested polymerase chain reaction (PCR) was used to detect IgH gene rearrangement and reverse-transcription PCR (RT-PCR) was used to detect API2-MALT1 fusion of the chromosome translocation t (11; 18) (q21; q21).", "output": {"entities": {"gene": [{"text": "MALT1", "start": 332, "end": 337}], "disease": [{"text": "chromosome translocation", "start": 352, "end": 376}]}, "relations": {}}, "schema": []}
{"input": "BAG-1 protein expression was assessed using immunohistochemistry in 292 patients with invasive ductal carcinoma and correlated with clinicopathological variables, therapeutic response and disease outcome.", "output": {"entities": {"gene": [{"text": "BAG-1", "start": 0, "end": 5}], "disease": [{"text": "invasive ductal carcinoma", "start": 86, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAG-1", "start": 0, "end": 5}, "tail": {"text": "invasive ductal carcinoma", "start": 86, "end": 111}}]}}, "schema": []}
{"input": "The COMP gene mutation (C348R), while not previously published, is typical of those in PSACH patients, whereas the COL2A1 mutation (T1370M) is somewhat atypical, as it predicts an amino acid change within the carboxyl-terminal region of the protein.", "output": {"entities": {"gene": [{"text": "COMP", "start": 4, "end": 8}], "disease": [{"text": "PSACH", "start": 87, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COMP", "start": 4, "end": 8}, "tail": {"text": "PSACH", "start": 87, "end": 92}}]}}, "schema": []}
{"input": "The 5-HTTLPR and the STin2 VNTR, but not the rs25531, polymorphisms of SERT are associated with PSD in stroke survivors.", "output": {"entities": {"gene": [{"text": "PSD", "start": 96, "end": 99}], "disease": [{"text": "stroke", "start": 103, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.", "output": {"entities": {"gene": [{"text": "complement factor D", "start": 107, "end": 126}], "disease": [{"text": "factor D deficiency", "start": 59, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "complement factor D", "start": 107, "end": 126}, "tail": {"text": "factor D deficiency", "start": 59, "end": 78}}]}}, "schema": []}
{"input": "The NUP98 gene at 11p15 is known to be fused to DDX10, HOXA9, HOXA11, HOXA13, HOXD11, HOXD13, LEDGF, NSD1, NSD3, PMX1, RAP1GDS1, and TOP1 in various hematologic malignancies.", "output": {"entities": {"gene": [{"text": "RAP1GDS1", "start": 119, "end": 127}], "disease": [{"text": "hematologic malignancies", "start": 149, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Patients with autoimmune abnormalities, however, demonstrated significantly lower FSH levels and higher anti-Mullerian hormone levels.", "output": {"entities": {"gene": [{"text": "anti-Mullerian hormone", "start": 104, "end": 126}], "disease": [{"text": "abnormalities", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Mouse cells in which MLL2 gene deletion can be induced display elevated levels of sister chromatid exchange, gross chromosomal aberrations, 53BP1 foci, and micronuclei.", "output": {"entities": {"gene": [{"text": "53BP1", "start": 140, "end": 145}], "disease": [{"text": "chromosomal aberrations", "start": 115, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "TSU-PR1 was originally reported as a prostatic carcinoma cell line derived from a lymph node metastasis.", "output": {"entities": {"gene": [{"text": "PR1", "start": 4, "end": 7}], "disease": [{"text": "prostatic carcinoma", "start": 37, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We measured at followup: repeat aCL-IgG, IgM aCL (aCL-IgM), antibodies to beta2-glycoprotein I (anti-beta2-GPI), lupus anticoagulant (LAC) antibodies, protein C, protein S, activated protein C resistance, factor V506 Leiden mutation, methyl tetrahydrofolate reductase (MTHFR) C677T genotype, and prothrombin 20210A gene mutation.", "output": {"entities": {"gene": [{"text": "GPI", "start": 107, "end": 110}], "disease": [{"text": "lupus anticoagulant", "start": 113, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We found that the high dose of PTH significantly increased tibial trabecular bone density parameters in control and diabetic mice, and the lower dose elevated trabecular bone parameters in diabetic mice.", "output": {"entities": {"gene": [{"text": "PTH", "start": 31, "end": 34}], "disease": [{"text": "bone density", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, fluorescent microsphere and histological studies revealed increased blood flow and blood vessel density and reduced infarction size in MSC (GATA-4)-treated animals.", "output": {"entities": {"gene": [{"text": "MSC", "start": 148, "end": 151}], "disease": [{"text": "infarction", "start": 129, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms and haplotypes of integrinalpha1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans.", "output": {"entities": {"gene": [{"text": "ITGA1", "start": 48, "end": 53}], "disease": [{"text": "bone mineral density", "start": 75, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, neoplastic cells express VEGF in Hodgkin' s disease, as is the case in solid tumours, and this expression may be induced by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 40, "end": 44}], "disease": [{"text": "hypoxia", "start": 139, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events.", "output": {"entities": {"gene": [{"text": "ADHR", "start": 102, "end": 106}], "disease": [{"text": "hypophosphatemia", "start": 266, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Concurrent activation of BCL2 and MYC usually occurs in B cell non-Hodgkin lymphoma (B-NHL) by translocation of both oncogenes to both immunoglobulin heavy chain (IGH) alleles: this abrogates immunoglobulin synthesis.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 25, "end": 29}], "disease": [{"text": "translocation", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We report a novel transthyretin variant, Gly53Ala, in a 44-year-old British woman who presented with severe episodic headaches, often with focal neurological deficit, before developing progressive ataxia, depression, dementia and eventually peripheral neuropathy.", "output": {"entities": {"gene": [{"text": "transthyretin", "start": 18, "end": 31}], "disease": [{"text": "depression", "start": 205, "end": 215}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transthyretin", "start": 18, "end": 31}, "tail": {"text": "depression", "start": 205, "end": 215}}]}}, "schema": []}
{"input": "Here, we report a newly diagnosed anti-Ca/ARHGAP26-IgG-positive patient who presented with recurrent psychotic symptoms but no cerebellar ataxia.", "output": {"entities": {"gene": [{"text": "ARHGAP26", "start": 42, "end": 50}], "disease": [{"text": "psychotic", "start": 101, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARHGAP26", "start": 42, "end": 50}, "tail": {"text": "psychotic", "start": 101, "end": 110}}]}}, "schema": []}
{"input": "The use of the human glioma cell line U87 appears to be an excellent model system both in tissue culture and in intracranial murine xenograft models to further characterize the role of sulfatides in modulating glioma responsivity to therapeutic agents.", "output": {"entities": {"gene": [{"text": "U87", "start": 38, "end": 41}], "disease": [{"text": "glioma", "start": 21, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Other factors associated with strong p53 immunostaining include greater Breslow thickness (OR = 7. 4 for > 4. 00 vs. < 0. 76 mm), male sex (OR = 2. 2) and dense freckling (OR = 6. 6 vs. few freckles).", "output": {"entities": {"gene": [{"text": "p53", "start": 37, "end": 40}], "disease": [{"text": "freckles", "start": 190, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "We assessed the expression of the circadian genes ARNLT, ARNLT2, CLOCK, PER1, PER2, PER3, CRY1, CRY2 and the starvation-activated histone/protein deacetylase SIRT1 in 34 matched tumor and non-tumor tissue specimens of PC patients, and evaluated in PC derived cell lines if the modulation of SIRT1 expression through starvation could influence the temporal pattern of expression of the circadian genes.", "output": {"entities": {"gene": [{"text": "CRY1", "start": 90, "end": 94}], "disease": [{"text": "starvation", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "To examine the relationship between the-238 polymorphism and insulin resistance independent of potentially confounding factors, the relatives with the TNFA-A allele were individually pair-matched for age, sex, waist-hip ratio, body mass index, and glucose tolerance with relatives homozygous for the wild-type allele.", "output": {"entities": {"gene": [{"text": "TNFA", "start": 151, "end": 155}], "disease": [{"text": "waist-hip ratio", "start": 210, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "The three coactivators, TIF-2, SRC-1 and RAC3, are up-regulated in relapsed prostate cancer.", "output": {"entities": {"gene": [{"text": "TIF-2", "start": 24, "end": 29}], "disease": [{"text": "prostate cancer", "start": 76, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TIF-2", "start": 24, "end": 29}, "tail": {"text": "prostate cancer", "start": 76, "end": 91}}]}}, "schema": []}
{"input": "In RCC with necrosis the MVD was reduced in comparison with RCC without necrosis.", "output": {"entities": {"gene": [{"text": "MVD", "start": 25, "end": 28}], "disease": [{"text": "necrosis", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "The N251K functional polymorphism in the alpha (2A)-adrenoceptor gene is not associated with depression: a study in suicide completers.", "output": {"entities": {"gene": [{"text": "alpha (2A)-adrenoceptor", "start": 41, "end": 64}], "disease": [{"text": "depression", "start": 93, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha (2A)-adrenoceptor", "start": 41, "end": 64}, "tail": {"text": "depression", "start": 93, "end": 103}}]}}, "schema": []}
{"input": "The mRNAs for aFGF and bFGF were expressed in the cells of various tumors (1/1 and 1/1 astrocytoma, 2/2 and 2/2 anaplastic astrocytomas, 6/6 and 6/6 glioblastomas, 4/4 and 4/4 meningiomas, 3/3 and 3/3 schwannomas, 1/2 and 1/2 pituitary adenomas, 4/4 and 4/4 metastatic carcinomas, 0/1 an 0/1 hemangioblastoma, 0/1 and 0/1 craniopharyngioma) and were also detected in endothelial cells and surrounding neuronal cells of brain tumors.", "output": {"entities": {"gene": [{"text": "aFGF", "start": 14, "end": 18}], "disease": [{"text": "craniopharyngioma", "start": 322, "end": 339}]}, "relations": {}}, "schema": []}
{"input": "Twist1 mRNA levels correlated with adiponectin levels and inversely with insulin resistance as well as adipocyte volume (P < 0. 001 for all).", "output": {"entities": {"gene": [{"text": "Twist1", "start": 0, "end": 6}], "disease": [{"text": "insulin resistance", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The FTO gene in Turkish adults contributes independently to obesity in women and-by interacting with BMI-to MetS and insulin resistance in men.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 4, "end": 12}], "disease": [{"text": "insulin resistance", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The data indicate that ML1 channel activity is regulated by a pH-dependent mechanism that is deficient in some MLIV causing mutations of the gene.", "output": {"entities": {"gene": [{"text": "ML1", "start": 23, "end": 26}], "disease": [{"text": "MLIV", "start": 111, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ML1", "start": 23, "end": 26}, "tail": {"text": "MLIV", "start": 111, "end": 115}}]}}, "schema": []}
{"input": "The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called \" double cortex \", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases.", "output": {"entities": {"gene": [{"text": "DCX", "start": 254, "end": 257}], "disease": [{"text": "sporadic", "start": 275, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Down-modulation of Bcl-xL by antisense oligonucleotide activated apoptosis in HepG2 cells in response to cellular stresses induced by staurosporine treatment or by serum starvation.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 19, "end": 25}], "disease": [{"text": "starvation", "start": 170, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "This study further revealed that PCA ameliorated HG-inflamed mesangial inflammation accompanying induction of intracellular cell adhesion molecule-1 and monocyte chemoattractant protein-1 (MCP-1) responsible for CTGF expression.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 212, "end": 216}], "disease": [{"text": "inflammation", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The imaging-based ATF2 translocation assay was conducted using UACC903 melanoma cells that stably express doxycycline-inducible GFP-ATF2.", "output": {"entities": {"gene": [{"text": "ATF2", "start": 18, "end": 22}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that IFN-alpha gene therapy is a promising strategy to treat HCC patients who have concomitant liver cirrhosis.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 27, "end": 36}], "disease": [{"text": "liver cirrhosis", "start": 117, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IFN-alpha", "start": 27, "end": 36}, "tail": {"text": "liver cirrhosis", "start": 117, "end": 132}}]}}, "schema": []}
{"input": "Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt.", "output": {"entities": {"gene": [{"text": "KLHL3", "start": 90, "end": 95}], "disease": [{"text": "FHHt", "start": 128, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KLHL3", "start": 90, "end": 95}, "tail": {"text": "FHHt", "start": 128, "end": 132}}]}}, "schema": []}
{"input": "Leptin binds to the leptin receptor, present in the hypothalamus and in many other tissues, and modulates energy balance and maintenance of body weight.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 20, "end": 35}], "disease": [{"text": "body weight", "start": 140, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 67, "end": 85}], "disease": [{"text": "multiple endocrine neoplasia type 2A", "start": 121, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 67, "end": 85}, "tail": {"text": "multiple endocrine neoplasia type 2A", "start": 121, "end": 157}}]}}, "schema": []}
{"input": "Activation of cerebral PPARγ confers neuroprotection after ischaemic stroke by preventing both, neuronal damage within the peri-infarct zone and delayed degeneration of neurones and neuronal death in areas remote from the site of ischaemic injury.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 23, "end": 28}], "disease": [{"text": "infarct", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Subsequent FISH analysis with region-specific YAC clones was used to relate the phenotypic findings such as bilateral split hand formation, specific cardiac and kidney anomalies, microtia, and hypoplastic thorax more exactly to the partial trisomy of the segment 4q26-qter.", "output": {"entities": {"gene": [{"text": "FISH", "start": 11, "end": 15}], "disease": [{"text": "split hand", "start": 118, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Additionally, SP600125 induced the polyploidization of HEL cells, which are derived from a patient with erythroleukemia, and phosphorylation at Thr389 of S6K1 was detected.", "output": {"entities": {"gene": [{"text": "S6K1", "start": 154, "end": 158}], "disease": [{"text": "erythroleukemia", "start": 104, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Dichotomy between RIP1-and RIP3-mediated necroptosis in tumor necrosis factor-α-induced shock.", "output": {"entities": {"gene": [{"text": "RIP1", "start": 18, "end": 22}], "disease": [{"text": "shock", "start": 88, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Hereditary sensory neuropathy type I (HSN1) is the most common hereditary disorder of peripheral sensory neurons.", "output": {"entities": {"gene": [{"text": "Hereditary sensory neuropathy type I", "start": 0, "end": 36}], "disease": [{"text": "HSN1", "start": 38, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Hereditary sensory neuropathy type I", "start": 0, "end": 36}, "tail": {"text": "HSN1", "start": 38, "end": 42}}]}}, "schema": []}
{"input": "Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis.", "output": {"entities": {"gene": [{"text": "Spink1", "start": 13, "end": 19}], "disease": [{"text": "Hereditary pancreatitis", "start": 42, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Spink1", "start": 13, "end": 19}, "tail": {"text": "Hereditary pancreatitis", "start": 42, "end": 65}}]}}, "schema": []}
{"input": "Studies on correlation of CSCs and the cells undergoing EMT may explain some aspects of tumor progression and drug resistance.", "output": {"entities": {"gene": [{"text": "EMT", "start": 56, "end": 59}], "disease": [{"text": "tumor progression", "start": 88, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the presence and frequency of C-terminal FUS/TLS mutations in a German amyotrophic lateral sclerosis (ALS) cohort, including 133 patients with sporadic ALS (SALS) and 58 patients with FALS by sequence analysis of exons 13-15.", "output": {"entities": {"gene": [{"text": "TLS", "start": 57, "end": 60}], "disease": [{"text": "sporadic", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the study of leukocyte methylation levels reflects a putative epigenetic regulation of NPY and POMC, which might be implicated in the weight regain process and be used as biomarkers for predicting weight regain after dieting.", "output": {"entities": {"gene": [{"text": "NPY", "start": 98, "end": 101}], "disease": [{"text": "weight", "start": 145, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Cardioprotection by adenosine A1 receptor activation limits infarct size and improves post-ischaemic mechanical function.", "output": {"entities": {"gene": [{"text": "adenosine A1 receptor", "start": 20, "end": 41}], "disease": [{"text": "infarct", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Based on our recent findings that a non-neoplastic B-cell subset, the monocytoid B-cells, are T-bet positive and produce IFN-gamma, we propose that monocytoid and hairy B-cells have a similar function and that the T-bet-IFN-gamma axis is involved in the pathogenesis of HCL.", "output": {"entities": {"gene": [{"text": "T-bet", "start": 94, "end": 99}], "disease": [{"text": "non-neoplastic", "start": 36, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The variants of the causal genes were selected based on their functions, including: obesity (adrenergic, beta-3-, receptor: ADRB3), alcohol consumption (aldehyde dehydrogenase 2: ALDH2), water-electrolyte metabolism (guanine nucleotide binding protein [G protein], beta polypeptide 3: GNB3), glycometabolism (peroxisome proliferator-activated receptor gamma: PPARG), lipometabolism (cholesteryl ester transfer protein, plasma: CETP), atherosclerosis (5, 10-methylenetetrahydrofolate reductase [NADPH]: MTHFR), and cellular behavior (gap junction protein, alpha 4, 37 kD: GJA4).", "output": {"entities": {"gene": [{"text": "beta-3", "start": 105, "end": 111}], "disease": [{"text": "alcohol consumption", "start": 132, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "In endothelial cells, adenovirus-mediated overexpression of Gli3 promoted migration (modified Boyden chamber), small interfering RNA-mediated downregulation of Gli3 delayed tube formation (Matrigel), and Western analyses identified increases in Akt phosphorylation, extracellular signal-regulated kinase (ERK) 1/2 activation, and c-Fos expression; however, promoter-reporter assays indicated that Gli3 overexpression does not modulate Gli-dependent transcription.", "output": {"entities": {"gene": [{"text": "Gli3", "start": 60, "end": 64}], "disease": [{"text": "adenovirus", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Recent reports of the transmission of systemic transthyretin (TTR) amyloidosis after domino liver transplantation (DLT) using grafts from patients with familial amyloid polyneuropathy (FAP) have raised concerns about the procedure.", "output": {"entities": {"gene": [{"text": "DLT", "start": 115, "end": 118}], "disease": [{"text": "amyloidosis", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "This study describes the kinetic parameters of the apoB containing lipoproteins and sequence abnormalities of the APOB and PCSK9 genes of FHBL patients identified in a large hospital based survey.", "output": {"entities": {"gene": [{"text": "APOB", "start": 114, "end": 118}], "disease": [{"text": "abnormalities", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that MCP-1 secretion by RPMC may have a role in the initiation and/or potentiation of asbestos-induced pleural injury.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 28, "end": 33}], "disease": [{"text": "pleural", "start": 126, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCP-1", "start": 28, "end": 33}, "tail": {"text": "pleural", "start": 126, "end": 133}}]}}, "schema": []}
{"input": "In conclusion, ADM is induced by hypoxia and over-expressed in PDAC and might therefore serve as a potential tumor marker.", "output": {"entities": {"gene": [{"text": "ADM", "start": 15, "end": 18}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "CDH1, MET, and YAP1 were independent predictors of recurrence-free survival by Cox regression when corrected for tumor stage (p < 0. 0001).", "output": {"entities": {"gene": [{"text": "MET", "start": 6, "end": 9}], "disease": [{"text": "regression", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association between single-nucleotide polymorphisms (SNPs) in the heat shock protein beta-1 (HSPB1) gene and the risk of radiation-induced esophageal toxicity (RIET) in patients with non-small-cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "HSPB1", "start": 113, "end": 118}], "disease": [{"text": "esophageal", "start": 159, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Thus, we propose that the hypoxia-independent promotion of the AKT-HIF-1alpha-VEGF pathway contributes, at least in part, to gastric cancer tumorigenesis and angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 78, "end": 82}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "This study indicates that major components of the miRNA pathway, such as the microprocessor complex and RISC, are dysregulated in epithelial skin cancer.", "output": {"entities": {"gene": [{"text": "RISC", "start": 104, "end": 108}], "disease": [{"text": "skin cancer", "start": 141, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "A total of 166 patients with OSF from a medical center and 284 betel quid chewers who were free of OSF and oral cancer, from the same hospital and five townships, were recruited.", "output": {"entities": {"gene": [{"text": "OSF", "start": 29, "end": 32}], "disease": [{"text": "oral cancer", "start": 107, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Higher ratios of plaque volume/vessel volume were observed in patients with the CRP 1444TT (n = 11) and CD14 260TT (n = 33) genotypes (p = 0. 016 and p = 0. 026, respectively).", "output": {"entities": {"gene": [{"text": "CD14", "start": 104, "end": 108}], "disease": [{"text": "plaque", "start": 17, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of partial ACT deficiency was highest in the chronic active hepatitis (5 of 40; PR, 12. 0 (5. 33-27. 0] and the cryptogenic cirrhosis (3 of 24; PR, 12. 0 (4. 38-32. 9] subgroups.]", "output": {"entities": {"gene": [{"text": "ACT", "start": 26, "end": 29}], "disease": [{"text": "chronic active hepatitis", "start": 60, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We analysed microsatellite instability (MSI) and expression of mismatch repair (MMR) proteins (MLH1, MSH2, and MSH6).", "output": {"entities": {"gene": [{"text": "MMR", "start": 80, "end": 83}], "disease": [{"text": "microsatellite instability", "start": 12, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The case with der (8) t (8; 9) had trisomy 9 (p22-pter) and monosomy 8 (p23-pter) due to this derivative chromosome.", "output": {"entities": {"gene": [{"text": "p22", "start": 46, "end": 49}], "disease": [{"text": "trisomy 9", "start": 35, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The relation of Bcl-2 overexpression and copy number gains or translocation of the BCL-2 gene in prostate cancer under hormone-naïve conditions is unknown.", "output": {"entities": {"gene": [{"text": "BCL-2 gene", "start": 83, "end": 93}], "disease": [{"text": "translocation", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "EG-VEGF, BV8, and their receptor expression in human bronchi and their modification in cystic fibrosis: Impact of CFTR mutation (delF508).", "output": {"entities": {"gene": [{"text": "BV8", "start": 9, "end": 12}], "disease": [{"text": "cystic fibrosis", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "ADM was strongly induced by hypoxia and significantly increased invasiveness in 3/5 human pancreatic cancer cells.", "output": {"entities": {"gene": [{"text": "ADM", "start": 0, "end": 3}], "disease": [{"text": "hypoxia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Whereas standard p24, ICD p24, and viral RNA levels changed similarly in response to treatment, the superior sensitivity and available dynamic range of plasma viral RNA assays like QC-PCR analysis provide an advantage for clinical monitoring of plasma viral load, allowing tracking of treatment-related changes even in patients with earlier stage disease and lower levels of viral load.", "output": {"entities": {"gene": [{"text": "p24", "start": 17, "end": 20}], "disease": [{"text": "viral load", "start": 252, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "In a consanguineous family with two affected children with severe growth retardation and normocephaly, we used homozygosity mapping and next-generation sequencing to identify a homozygous MAP4 variant.", "output": {"entities": {"gene": [{"text": "MAP4", "start": 188, "end": 192}], "disease": [{"text": "growth retardation", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Direct sequencing of the mtDNA D-loop was performed in paired HCC and adjacent non-neoplastic liver tissues.", "output": {"entities": {"gene": [{"text": "HCC", "start": 62, "end": 65}], "disease": [{"text": "non-neoplastic", "start": 79, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "\" Severe AKI \" had higher levels of plasma IL-10, MIF and IL-6 compared to \" no AKI \" and mild AKI (p < 0. 05 for each), with no difference in mHLA-DR at day 0.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 43, "end": 48}], "disease": [{"text": "mild", "start": 90, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The model predicted breast cancer mortality reductions of 42% to 47% for mammography, 48% to 61% for MRI, and 50% to 62% for combined screening.", "output": {"entities": {"gene": [{"text": "MRI", "start": 101, "end": 104}], "disease": [{"text": "breast cancer", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Of the positive clones isolated, two were found to correspond to the acute leukemia t (10; 11) associated AF10 gene, a fusion partner of MLL.", "output": {"entities": {"gene": [{"text": "fusion partner of MLL", "start": 119, "end": 140}], "disease": [{"text": "acute leukemia", "start": 69, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Sequence alterations in OPTN were found in 16. 7% of families with hereditary POAG, including individuals with normal intraocular pressure.", "output": {"entities": {"gene": [{"text": "OPTN", "start": 24, "end": 28}], "disease": [{"text": "POAG", "start": 78, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPTN", "start": 24, "end": 28}, "tail": {"text": "POAG", "start": 78, "end": 82}}]}}, "schema": []}
{"input": "In summary, the data from this study indicate that increased Cu transportation due to upregulated CTR1 and ATP7A in pulmonary arteries and PASMC contributes to the development of hypoxia-induced pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 107, "end": 112}], "disease": [{"text": "pulmonary hypertension", "start": 195, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATP7A", "start": 107, "end": 112}, "tail": {"text": "pulmonary hypertension", "start": 195, "end": 217}}]}}, "schema": []}
{"input": "To study the potential benefit of the NURR1 gene in Parkinson' s disease (PD), we constructed a recombinant republic-deficit adenovirus containing the NURR1 gene (Ad-NURR1) and expressed it in transplanted neural stem cells (NSC).", "output": {"entities": {"gene": [{"text": "NURR1", "start": 38, "end": 43}], "disease": [{"text": "adenovirus", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Through binding to the hypoxia-response element (HRE), these factors regulate expression of many genes, including vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 150, "end": 154}], "disease": [{"text": "hypoxia", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Expression of RAR-beta2 mRNA and methylation status of the 5' region of RAR-beta2 gene were examined in 20 matched specimens from patients with cervical SCC and in three cervical cancer cell lines by Northern blot analysis and methylation-specific PCR (MSP) assay or Southern blot analysis respectively.", "output": {"entities": {"gene": [{"text": "RAR", "start": 14, "end": 17}], "disease": [{"text": "cervical cancer", "start": 170, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "To determine the spectrum of nonpolio enterovirus (NPEV) serotypes associated with NP-AFP from polio-endemic and-free regions, we studied antigenic diversity of AFP-associated NPEVs.", "output": {"entities": {"gene": [{"text": "AFP", "start": 86, "end": 89}], "disease": [{"text": "enterovirus", "start": 38, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH, also known as pontocerebellar hypoplasia type 1 [PCH1]) is one of the rare infantile SMA variants that include additional clinical manifestations, and its genetic basis is unknown.", "output": {"entities": {"gene": [{"text": "PCH1", "start": 115, "end": 119}], "disease": [{"text": "pontocerebellar hypoplasia type 1", "start": 80, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCH1", "start": 115, "end": 119}, "tail": {"text": "pontocerebellar hypoplasia type 1", "start": 80, "end": 113}}]}}, "schema": []}
{"input": "Constitutional downregulation of SEMA5A expression in autism.", "output": {"entities": {"gene": [{"text": "SEMA5A", "start": 33, "end": 39}], "disease": [{"text": "autism", "start": 54, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEMA5A", "start": 33, "end": 39}, "tail": {"text": "autism", "start": 54, "end": 60}}]}}, "schema": []}
{"input": "Lower levels of IGF-I, and lower levels of circulating IL-1RA, are significantly (P & lt; 0. 05) associated with delirium, while the remaining of cytokines, severity of illness and possession of epsilon 4 allele had a non-significant effect.", "output": {"entities": {"gene": [{"text": "IL-1RA", "start": 55, "end": 61}], "disease": [{"text": "delirium", "start": 113, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1RA", "start": 55, "end": 61}, "tail": {"text": "delirium", "start": 113, "end": 121}}]}}, "schema": []}
{"input": "Furthermore, stroke was confirmed by MRI in a number of mildly symptomatic patients (11 cases) who had increased levels of total polyamine oxidase and acrolein.", "output": {"entities": {"gene": [{"text": "polyamine oxidase", "start": 129, "end": 146}], "disease": [{"text": "stroke", "start": 13, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "polyamine oxidase", "start": 129, "end": 146}, "tail": {"text": "stroke", "start": 13, "end": 19}}]}}, "schema": []}
{"input": "PRRX1 is mutated in a fetus with agnathia-otocephaly.", "output": {"entities": {"gene": [{"text": "PRRX1", "start": 0, "end": 5}], "disease": [{"text": "otocephaly", "start": 42, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRRX1", "start": 0, "end": 5}, "tail": {"text": "otocephaly", "start": 42, "end": 52}}]}}, "schema": []}
{"input": "A recent study has demonstrated that the TNF-alpha * 2 allele of a polymorphism in the TNF-alpha gene promoter region (G-308 A) is associated with a higher risk for the development of atopy in Spanish patients.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 41, "end": 50}], "disease": [{"text": "atopy", "start": 184, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Western blot and real-time PCR results indicated that the expression of heparanase and VEGF was increased under hypoxic conditions, and the increase of VEGF was inhibited by PI-88.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 87, "end": 91}], "disease": [{"text": "hypoxic", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Treatment with nonselective anti-inflammatory drugs ibuprofen, indomethacin, or salicylic acid did not show any effect on angiotensin II-induced superoxide production, hypertension, or cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 122, "end": 136}], "disease": [{"text": "cardiac hypertrophy", "start": 185, "end": 204}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 122, "end": 136}, "tail": {"text": "cardiac hypertrophy", "start": 185, "end": 204}}]}}, "schema": []}
{"input": "Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivarcurium) in patients who have mutations in the BCHE gene.", "output": {"entities": {"gene": [{"text": "BCHE", "start": 172, "end": 176}], "disease": [{"text": "Butyrylcholinesterase deficiency", "start": 0, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCHE", "start": 172, "end": 176}, "tail": {"text": "Butyrylcholinesterase deficiency", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "We conclude that Ebp1 has a key role in the upregulation of podoplanin and may contribute to oral tumorigenesis.", "output": {"entities": {"gene": [{"text": "podoplanin", "start": 60, "end": 70}], "disease": [{"text": "tumorigenesis", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "PCAF KO mice showed no difference with WT C57BL/6j controls in their performances in the forced swimming and light/dark exploration box, suggesting no particular phenotype on anxiety and stress responses.", "output": {"entities": {"gene": [{"text": "PCAF", "start": 0, "end": 4}], "disease": [{"text": "anxiety", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that NOD2 mutations may result in perpetuation of mucosal inflammation through insufficient pathogen elimination.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 25, "end": 29}], "disease": [{"text": "mucosal inflammation", "start": 70, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "In particular, HOXA1, which has been described as one of the HOX members that plays an important role in tumorigenesis, was significantly more expressed in OSCCs compared to healthy oral mucosas.", "output": {"entities": {"gene": [{"text": "HOXA1", "start": 15, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we investigated the role of AG490 in regulating brain oedema, expression of CD40 and neurological function after TBI.", "output": {"entities": {"gene": [{"text": "CD40", "start": 87, "end": 91}], "disease": [{"text": "brain oedema", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0. 05.", "output": {"entities": {"gene": [{"text": "GSTT2", "start": 74, "end": 79}], "disease": [{"text": "drinking", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal rearrangements involving MALT lymphoma translocation gene 1 (MALT1) have been reported to be specific for MALT lymphoma.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 73, "end": 78}], "disease": [{"text": "translocation", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Therefore, NDRG2 is a candidate tumor-suppressor gene for OSCC development and probably contributes to the tumorigenesis of OSCC partly via the modulation of Akt signaling.", "output": {"entities": {"gene": [{"text": "NDRG2", "start": 11, "end": 16}], "disease": [{"text": "tumorigenesis", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "In vitro, hGSPCs can transdifferentiate into VECs under hypoxia, they manifested typical \" flagstone \" pattern when cultivated in medium containing VEGF for a few days; when cultivated on Matrigel they were capable of forming capillary-like structures.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 148, "end": 152}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The patient makes a dystrophin protein which is properly localized and is present at a higher level than is observed in DMD patients.", "output": {"entities": {"gene": [{"text": "dystrophin", "start": 20, "end": 30}], "disease": [{"text": "DMD", "start": 120, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dystrophin", "start": 20, "end": 30}, "tail": {"text": "DMD", "start": 120, "end": 123}}]}}, "schema": []}
{"input": "We investigated paraoxonase 2 (PON2), 5-lipoxygenase (5-LO), and 5-LO activating protein (FLAP) expression and malondialdehyde (MDA) levels in carotid lesions to assess their involvement in plaque formation.", "output": {"entities": {"gene": [{"text": "PON2", "start": 31, "end": 35}], "disease": [{"text": "plaque", "start": 190, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Several groups have shown that FUS binds broadly to many transcripts in the brain and have also identified a plethora of putative splice targets; however, only ABLIM1, BRAF, Ewing sarcoma protein R1 (EWSR1), microtubule-associated protein tau (MAPT), NgCAM cell adhesion molecule (NRCAM), and netrin G1 (NTNG1) have been identified in at least three of four studies.", "output": {"entities": {"gene": [{"text": "NRCAM", "start": 281, "end": 286}], "disease": [{"text": "sarcoma", "start": 180, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "After confirming a heterozygous SEPT9 mutation (R88W) in the father and his mother, it became apparent that the dysmorphic features in the children were part of HNA and that previous complaints of the daughter, erroneously diagnosed as pronatio dolorosa and then epiphysiolysis of the capitellum humeri, were in fact a first neuralgic pain attack.", "output": {"entities": {"gene": [{"text": "SEPT9", "start": 32, "end": 37}], "disease": [{"text": "HNA", "start": 161, "end": 164}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEPT9", "start": 32, "end": 37}, "tail": {"text": "HNA", "start": 161, "end": 164}}]}}, "schema": []}
{"input": "In salivary gland pleomorphic adenoma, expression of extracellular matrix (ECM) substances indicates that tumor epithelial cells are becoming chondrogenic and will produce cartilage-like mesenchymal tissues.", "output": {"entities": {"gene": [{"text": "ECM", "start": 75, "end": 78}], "disease": [{"text": "salivary gland pleomorphic adenoma", "start": 3, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 0, "end": 5}], "disease": [{"text": "recurrent infections", "start": 71, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "High glucose and hypoxia can independently induce endogenous active TGF-β (1) production in human proximal tubular cells.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 68, "end": 73}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "In CD, we found a negative association between ileal disease involvement and TLR1 S602I (P =. 03, OR [95% CI] 0. 522 [0. 286-0. 950]).", "output": {"entities": {"gene": [{"text": "TLR1", "start": 77, "end": 81}], "disease": [{"text": "ileal disease", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The chromosomal translocation t (8; 21) (q22; q22) in acute myeloid leukemia (AML) can be detected by a reverse transcription-polymerase chain reaction (RT-PCR) for the chimeric AML1/ETO transcript.", "output": {"entities": {"gene": [{"text": "AML1", "start": 178, "end": 182}], "disease": [{"text": "chromosomal translocation", "start": 4, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal.", "output": {"entities": {"gene": [{"text": "SOX3", "start": 66, "end": 70}], "disease": [{"text": "XX male", "start": 112, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX3", "start": 66, "end": 70}, "tail": {"text": "XX male", "start": 112, "end": 119}}]}}, "schema": []}
{"input": "Dyslipidemic apolipoprotein E-deficient mice chronically treated with intraperitoneal quercetin injections had smaller atheromatous lesions, reduced lipid deposition, and less macrophage and T cell inflammatory infiltrate in the aortic roots than vehicle-treated animals.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 13, "end": 29}], "disease": [{"text": "atheromatous", "start": 119, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "apolipoprotein E", "start": 13, "end": 29}, "tail": {"text": "atheromatous", "start": 119, "end": 131}}]}}, "schema": []}
{"input": "Our observation indicates that telethonin deficiency may present in infancy with clinical features overlapping with mild forms of α-dystroglycanopathy.", "output": {"entities": {"gene": [{"text": "telethonin", "start": 31, "end": 41}], "disease": [{"text": "mild", "start": 116, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Chemerin concentrations were significantly higher in obese compared to lean children and correlated with obesity-related parameters such as body mass index sd score, leptin, and skinfold thickness.", "output": {"entities": {"gene": [{"text": "Chemerin", "start": 0, "end": 8}], "disease": [{"text": "body mass index", "start": 140, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In mild cases of CAPS, the serum IL-18 levels were not increased, although lipopolysaccharide-or hypothermia-enhanced IL-1β and IL-18 production levels by their peripheral blood mononuclear cells were detectable.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 33, "end": 38}], "disease": [{"text": "mild", "start": 3, "end": 7}]}, "relations": {}}, "schema": []}
{"input": "Cow' s milk increases the activities of human nuclear receptors peroxisome proliferator-activated receptors alpha and delta and retinoid X receptor alpha involved in the regulation of energy homeostasis, obesity, and inflammation.", "output": {"entities": {"gene": [{"text": "retinoid X receptor alpha", "start": 128, "end": 153}], "disease": [{"text": "obesity", "start": 204, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "The supplementation of FGF-2 and BDNF attenuated various parameters of inflammation, including astrocytosis, microcytosis and IL-1 & #946; expression.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 33, "end": 37}], "disease": [{"text": "astrocytosis", "start": 95, "end": 107}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "BDNF", "start": 33, "end": 37}, "tail": {"text": "astrocytosis", "start": 95, "end": 107}}]}}, "schema": []}
{"input": "The medicines we tested affected the pathological changes in HF-CCl4 rats to differing degrees: DF and G led to improvements in all of the above examined indexes, including an obvious improvement in histopathology, and DF improved serum ALT and MDA levels more markedly than G, whereas D extracts produced only mild liver injury attenuation.", "output": {"entities": {"gene": [{"text": "CCl4", "start": 64, "end": 68}], "disease": [{"text": "mild", "start": 311, "end": 315}]}, "relations": {}}, "schema": []}
{"input": "Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.", "output": {"entities": {"gene": [{"text": "myelin protein P0", "start": 58, "end": 75}], "disease": [{"text": "Charcot-Marie-Tooth disease type 1B", "start": 84, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myelin protein P0", "start": 58, "end": 75}, "tail": {"text": "Charcot-Marie-Tooth disease type 1B", "start": 84, "end": 119}}]}}, "schema": []}
{"input": "Additionally, retinal tissue sections from a patient with aceruloplasminemia, a disease causing iron overload in the retinal pigment epithelium (RPE), showed increased Aβ deposition in the RPE and drusen.", "output": {"entities": {"gene": [{"text": "RPE", "start": 145, "end": 148}], "disease": [{"text": "aceruloplasminemia", "start": 58, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In vitro analysis revealed that WISP1v stimulated the invasive phenotype of cholangiocarcinoma cells with activation of both p38 and p42/p44 mitogen-activated protein kinases (MAPKs).", "output": {"entities": {"gene": [{"text": "p42", "start": 133, "end": 136}], "disease": [{"text": "cholangiocarcinoma", "start": 76, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "When directly inoculated into mice, the recombinant adenovirus RAd51 was shown to elicit an antibody response to the TBEV NS1 protein.", "output": {"entities": {"gene": [{"text": "RAd51", "start": 63, "end": 68}], "disease": [{"text": "adenovirus", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The third subgroup of four patients was characterized by MYCN amplification with 17q gain and 1p deletion, very rarely with 11q loss (one patient) through a translocation with a non-17q partner.", "output": {"entities": {"gene": [{"text": "MYCN", "start": 57, "end": 61}], "disease": [{"text": "translocation", "start": 157, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "This stands as a first report of identification of a microRNA mediator that links hypoxia and the TGFβ signaling pathways, both of which are involved in regulation of breast cancer metastasis.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 98, "end": 102}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Gene symbol: NDP. Disease: Norrie disease.", "output": {"entities": {"gene": [{"text": "NDP", "start": 13, "end": 16}], "disease": [{"text": "Norrie disease", "start": 27, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDP", "start": 13, "end": 16}, "tail": {"text": "Norrie disease", "start": 27, "end": 41}}]}}, "schema": []}
{"input": "In the present study, we tested whether central cannabinoid 1 (CB1) receptors participate in the control of arterial pressure during endotoxemia based on evidence that hypothalamic neurons express CB1 receptors and synthesize the endogenous CB anandamide.", "output": {"entities": {"gene": [{"text": "CB1", "start": 63, "end": 66}], "disease": [{"text": "endotoxemia", "start": 133, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Analysis of 84 genes, which are associated with oxidative stress and antioxidant defense, showed that 7 genes were significantly and differentially regulated, namely BCL2/adenovirus E1B 19kD-interacting protein 3 (BNIP3), 24-dehydrocholesterol reduc-tase (DHCR24), dual specificity phosphatase 1 (DUSP1), forkhead box M1 (FOXM1), nudix-type motif 1 (NUDT1), prostaglandin-endoperoxide synthase 2 (PTGS2), and scavenger receptor class A, member 3 (SCARA3).", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 214, "end": 219}], "disease": [{"text": "adenovirus", "start": 171, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "The EFHC1 gene on 6p12-p11 was previously described as the first susceptibility gene for juvenile myoclonic epilepsy (JME).", "output": {"entities": {"gene": [{"text": "p11", "start": 23, "end": 26}], "disease": [{"text": "juvenile myoclonic epilepsy", "start": 89, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In a population-based case-cohort study where cases and the subcohort sample were matched on duration of smoking, we investigated the occurrence of lung cancer and histological subtypes of lung cancer in relation to deletion polymorphism in both GSTM1 and GSTT1, single nucleotide polymorphisms (SNPs) in GSTP1 (Ile105Val and Ala114Val) and a 3 base pair deletion polymorphism in GSTM3.", "output": {"entities": {"gene": [{"text": "GSTM3", "start": 380, "end": 385}], "disease": [{"text": "smoking", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "After 72 h of exposure to 10 microM progesterone, 48% of the cells had undergone apoptosis and 40% were annexin V positive/propidium iodide positive indicating signs of necrosis.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 104, "end": 113}], "disease": [{"text": "necrosis", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The authors describe the computed tomography (CT) and magnetic resonance imaging (MRI) findings of an 18-year-old man with renal cell carcinoma (RCC) associated with the Xp11. 2 translocation/transcription factor E3 (TFE3) gene fusion (Xp11 translocation carcinoma).", "output": {"entities": {"gene": [{"text": "MRI", "start": 82, "end": 85}], "disease": [{"text": "translocation", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to enumerate CD34 (+) cell numbers in blood and bone marrow from atopic asthmatics and control subjects and to test the hypothesis that there is an increased bone marrow pool of CCR3 (+) eosinophils in patients with atopic asthma, as compared with control subjects.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 208, "end": 212}], "disease": [{"text": "atopic", "start": 95, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Acute myeloid leukemia possessing jumping translocation is related to highly elevated levels of EAT/mcl-1, a Bcl-2 related gene with anti-apoptotic functions.", "output": {"entities": {"gene": [{"text": "mcl-1", "start": 100, "end": 105}], "disease": [{"text": "translocation", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Higher levels of hIRS-1 gene transcripts were observed in HCC tumors compared to adjacent non-involved normal liver.", "output": {"entities": {"gene": [{"text": "hIRS-1", "start": 17, "end": 23}], "disease": [{"text": "HCC", "start": 58, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hIRS-1", "start": 17, "end": 23}, "tail": {"text": "HCC", "start": 58, "end": 61}}]}}, "schema": []}
{"input": "In this study, following intranasal infection with RSV, BALB/c mice showed a marked increase in the production of IL-33, with an elevated expression of ST2 mRNA as well as a massive infiltration of CD45 (+) ST2 (+) cells in the lungs, suggesting that during the early phase of RSV infection, IL-33 target cells which express ST2 on cell surface, may play a critical role for the development of RSV-induced airway inflammation.", "output": {"entities": {"gene": [{"text": "CD45", "start": 198, "end": 202}], "disease": [{"text": "inflammation", "start": 413, "end": 425}]}, "relations": {}}, "schema": []}
{"input": "The protein ENH is a cytoplasmic sequestration factor for Id2 in normal and tumor cells from the nervous system.", "output": {"entities": {"gene": [{"text": "ENH", "start": 12, "end": 15}], "disease": [{"text": "nervous system", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We also determined whether hypoxia directly affects the expression of vascular endothelial growth factor (VEGF), of VEGF receptors (Flt-1, Flk-1), and of type I and type IV collagens in activated hepatic stellate cells (HSCs) and the expression of VEGF in hepatocytes.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 106, "end": 110}], "disease": [{"text": "hypoxia", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 86, "end": 91}], "disease": [{"text": "Hartsfield syndrome", "start": 46, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR1", "start": 86, "end": 91}, "tail": {"text": "Hartsfield syndrome", "start": 46, "end": 65}}]}}, "schema": []}
{"input": "MGMT, GATA6, CD81, DR4, and CASP8 gene promoter methylation in glioblastoma.", "output": {"entities": {"gene": [{"text": "CD81", "start": 13, "end": 17}], "disease": [{"text": "glioblastoma", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Novel roles for MLH3 deficiency and TLE6-like amplification in DNA mismatch repair-deficient gastrointestinal tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "MLH3", "start": 16, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "In contrast, only smoking (HR 0. 11; 95% CI: 0. 04-0. 32; p < 0. 001) was inversely associated with EGFR mutational status.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 100, "end": 104}], "disease": [{"text": "smoking", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Results indicate a statistically significant interaction between CRHR1 genotype and the status of raising a child with FXS to predict social anxiety symptoms reported on the SPAI (rs7209436, P = 0. 0001).", "output": {"entities": {"gene": [{"text": "CRHR1", "start": 65, "end": 70}], "disease": [{"text": "social anxiety", "start": 134, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, perinecrotic tumor areas, which are supposed to be hypoxic, only rarely showed the expected increase in microvessel density and VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 142, "end": 146}], "disease": [{"text": "hypoxic", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "This amino acid substitution has not been previously described in the androgen receptor in patients with androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 70, "end": 87}], "disease": [{"text": "androgen insensitivity syndrome", "start": 105, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 70, "end": 87}, "tail": {"text": "androgen insensitivity syndrome", "start": 105, "end": 136}}]}}, "schema": []}
{"input": "A novel amber mutation in a beta zero-thalassaemia gene (beta 37TGG--> TAG), with direct detection by mapping the restriction fragments in amplified genomic DNA.", "output": {"entities": {"gene": [{"text": "TAG", "start": 71, "end": 74}], "disease": [{"text": "thalassaemia", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that NF-kappaB plays an important role in ANG II/ROS-induced skeletal muscle insulin resistance.", "output": {"entities": {"gene": [{"text": "ANG", "start": 65, "end": 68}], "disease": [{"text": "insulin resistance", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of FGFR kinase corrects the aneuploidy, and oral administration of an FGFR inhibitor prolongs survival of mice harboring intracranial FGFR3-TACC3-initiated glioma.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 145, "end": 150}], "disease": [{"text": "aneuploidy", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Serum C-reactive protein concentrations correlated with increased weight loss (r = 0. 24, P < 0. 001).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 6, "end": 24}], "disease": [{"text": "increased weight", "start": 56, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Thus, inactive p53 is not associated with a susceptible cytotoxicity of Polo-like kinase 1 inhibition and could rather foster the induction of polyploidy/aneuploidy in surviving cells.", "output": {"entities": {"gene": [{"text": "Polo-like kinase 1", "start": 72, "end": 90}], "disease": [{"text": "aneuploidy", "start": 154, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We investigated the 5-HTT gene-linked polymorphic region (5-HTTLPR) and intron 2 (STin2) variants of this gene and their relationship to behavioral and clinical risk factors for suicide in a sample of depressed suicides (n = 106) and depressed control subjects (n = 152), diagnosed by means of proxy-based interviews.", "output": {"entities": {"gene": [{"text": "HTT gene", "start": 22, "end": 30}], "disease": [{"text": "suicide", "start": 178, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Epigenetic changes like hypermethylation of the promoter region of MMR genes as well as gene silencing are also responsible for the microsatellite instability phenotypes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 67, "end": 70}], "disease": [{"text": "microsatellite instability", "start": 132, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "We further demonstrate that GCN5 is upregulated in human colon cancer at the mRNA level.", "output": {"entities": {"gene": [{"text": "GCN5", "start": 28, "end": 32}], "disease": [{"text": "colon cancer", "start": 57, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "BHLHA9 harboring one of the three substitutions detected in MSSD-affected individuals eliminates entirely the transcription activation by these class I bHLH proteins.", "output": {"entities": {"gene": [{"text": "BHLHA9", "start": 0, "end": 6}], "disease": [{"text": "MSSD", "start": 60, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BHLHA9", "start": 0, "end": 6}, "tail": {"text": "MSSD", "start": 60, "end": 64}}]}}, "schema": []}
{"input": "mRNA levels of ONECUT1, TCF2, PKHD1 and CYS1 were measured in pancreatic tissues and pancreatic cancer cell lines by quantitative reverse-transcriptase polymerase chain reaction (QRT-PCR).", "output": {"entities": {"gene": [{"text": "CYS1", "start": 40, "end": 44}], "disease": [{"text": "pancreatic cancer", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Both mutations detected in ATM have been shown to be pathogenic, and the α-fetoprotein, a marker of ataxia telangiectasia, was found to be increased.", "output": {"entities": {"gene": [{"text": "α-fetoprotein", "start": 73, "end": 86}], "disease": [{"text": "telangiectasia", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that the cytogenetically defined translocation t (X; 18) (p11. 2; q11. 2) found in human synovial sarcoma results in the fusion of the chromosome 18 SYT gene to either of two distinct genes, SSX1 or SSX2, at Xp11. 2.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 214, "end": 218}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In estrogen-sensitive breast cancer, high levels of E-cadherin fit with high levels of ERα and MTA3 (a component of the transcription Mi-2/NuRD complex with intrinsic DAC activity).", "output": {"entities": {"gene": [{"text": "DAC", "start": 167, "end": 170}], "disease": [{"text": "fit", "start": 63, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.", "output": {"entities": {"gene": [{"text": "MCCC1", "start": 21, "end": 26}], "disease": [{"text": "3-methylcrotonyl-CoA carboxylase deficiency", "start": 83, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCCC1", "start": 21, "end": 26}, "tail": {"text": "3-methylcrotonyl-CoA carboxylase deficiency", "start": 83, "end": 126}}]}}, "schema": []}
{"input": "The data of transmission/disequilibrium test (TDT) analysis provide strong evidence for linkage of DR15 alleles and susceptibility to sporadic MS in patients with disease onset before 15 years.", "output": {"entities": {"gene": [{"text": "TDT", "start": 46, "end": 49}], "disease": [{"text": "sporadic", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "No sign of CNTF-induced toxicity was observed; however, depression occurred in three subjects after removal of the last capsule, which may have correlated with the lack of any future therapeutic option.", "output": {"entities": {"gene": [{"text": "CNTF", "start": 11, "end": 15}], "disease": [{"text": "depression", "start": 56, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNTF", "start": 11, "end": 15}, "tail": {"text": "depression", "start": 56, "end": 66}}]}}, "schema": []}
{"input": "Moreover, hypoxia-induced MUC1 partially regulated two other hypoxia-inducible proangiogenic factors including vascular endothelial growth factor-A and platelet-derived growth factor-B.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 26, "end": 30}], "disease": [{"text": "hypoxia", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The SE and the IL10 GGC haplotype are associated with severe progression of radiographic damage, in contrast to the DQA1 * 05-DQB1 * 02 haplotype and the TNF-308A allele, which are associated with mild radiographic progression in early UA.", "output": {"entities": {"gene": [{"text": "IL10", "start": 15, "end": 19}], "disease": [{"text": "mild", "start": 197, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The t (16; 21) (p11; q22) translocation is a recurrent chromosomal abnormality found in several types of myeloid leukemia.", "output": {"entities": {"gene": [{"text": "p11", "start": 16, "end": 19}], "disease": [{"text": "chromosomal abnormality", "start": 55, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe MAP2-immunoreactivity patterns in a large series of various neuroepithelial tumors and related neoplasms (n = 960).", "output": {"entities": {"gene": [{"text": "MAP2", "start": 18, "end": 22}], "disease": [{"text": "neoplasms", "start": 113, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "A subject carrying CYP1A1 Val/Val or CYP1A1 Ile/Val in association with GSTM null genotype has 6. 90 times more risk to be infertile than a subject carrying CYP1A1 Ile/Ile in association with GSTM1 wild-type genotype (odds ratio: 6. 90, 95% confidence interval: 2. 29-19. 3).", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 19, "end": 25}], "disease": [{"text": "infertile", "start": 123, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development.", "output": {"entities": {"gene": [{"text": "Lmbr1", "start": 75, "end": 80}], "disease": [{"text": "acheiropodia", "start": 24, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Lmbr1", "start": 75, "end": 80}, "tail": {"text": "acheiropodia", "start": 24, "end": 36}}]}}, "schema": []}
{"input": "VEGF and ANG belong to a larger group of angiogenic genes that are up-regulated under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Females with premature adrenarche and hyperandrogenemia are likely to bear heterozygous CYP21A2 mutations, therefore systematic evaluation of 17-OHP values in combination with the molecular testing of CYP21A2 gene is beneficial, b. carriers of the mild p. V281L, are at higher risk of androgen excess compared to carriers of other types of mutations.", "output": {"entities": {"gene": [{"text": "CYP21A2 gene", "start": 201, "end": 213}], "disease": [{"text": "mild", "start": 248, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "21 polyps from 13 patients were screened for BRAF and KRAS mutations, with assessment of promoter methylation in the DNMT1, DNMT3A, DNMT3B, DNMT3L MLH1, MGMT, and WIF1 gene promoters.", "output": {"entities": {"gene": [{"text": "DNMT3L", "start": 140, "end": 146}], "disease": [{"text": "polyps", "start": 3, "end": 9}]}, "relations": {}}, "schema": []}
{"input": "Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.", "output": {"entities": {"gene": [{"text": "NOG", "start": 26, "end": 29}], "disease": [{"text": "proximal symphalangism", "start": 64, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOG", "start": 26, "end": 29}, "tail": {"text": "proximal symphalangism", "start": 64, "end": 86}}]}}, "schema": []}
{"input": "In focal cortical dysplasia (FCD), MRI shows focal cortical thickening and simplified gyration.", "output": {"entities": {"gene": [{"text": "MRI", "start": 35, "end": 38}], "disease": [{"text": "focal cortical dysplasia", "start": 3, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Mechanistic studies showed that SHARP1 interacted with HIF-1α physically, and the protein level of HIF-1α and the mRNA level of its target genes (VEGFA, ANGPTL4 and CA9) were decreased by SHARP1 under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 146, "end": 151}], "disease": [{"text": "hypoxia", "start": 201, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "We also evaluated differences in risk by estrogen receptor (ER) and progesterone receptor (PR) status in tumors, and the potential modification of the smoking association by N-acetyl transferase 2 (NAT2) genotype.", "output": {"entities": {"gene": [{"text": "progesterone receptor", "start": 68, "end": 89}], "disease": [{"text": "smoking", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The VEGF expression by pEpo-SV-VEGF-EpoUTR showed the highest specificity of the gene expression in the hypoxic cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 4, "end": 8}], "disease": [{"text": "hypoxic", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest the potential for developing a therapy for colorectal cancer based on targeting Dclk1-positive TSCs.", "output": {"entities": {"gene": [{"text": "Dclk1", "start": 97, "end": 102}], "disease": [{"text": "colorectal cancer", "start": 60, "end": 77}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Dclk1", "start": 97, "end": 102}, "tail": {"text": "colorectal cancer", "start": 60, "end": 77}}]}}, "schema": []}
{"input": "We used UPII-mutant Ha-ras transgenic mice that develop hyperplasia and low-grade, papillary urothelial cell carcinoma to determine whether metformin has activity in a model of superficial bladder cancer.", "output": {"entities": {"gene": [{"text": "UPII", "start": 8, "end": 12}], "disease": [{"text": "hyperplasia", "start": 56, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Corticosterone produced dose-dependent increases in depression-like behavior and decreases in reelin expression, neurogenesis, and cell maturation regardless of mouse genotype.", "output": {"entities": {"gene": [{"text": "reelin", "start": 94, "end": 100}], "disease": [{"text": "depression", "start": 52, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "reelin", "start": 94, "end": 100}, "tail": {"text": "depression", "start": 52, "end": 62}}]}}, "schema": []}
{"input": "A single base-pair mutation in the Rc3h1 gene resulted in the manifestation of autoantibody production and sustained immunological inflammation characterized by excessive T follicular helper cell activation and formation of germinal centers.", "output": {"entities": {"gene": [{"text": "Rc3h1 gene", "start": 35, "end": 45}], "disease": [{"text": "inflammation", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "In addition to hypoxia, peptide growth factors are known to regulate VEGF expression but the effect of stem cell factor (SCF), the ligand for c-Kit, on VEGF expression has not been characterized.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 69, "end": 73}], "disease": [{"text": "hypoxia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Adiponutrin gene expression was also analyzed in patients with different levels of insulin resistance.", "output": {"entities": {"gene": [{"text": "Adiponutrin", "start": 0, "end": 11}], "disease": [{"text": "insulin resistance", "start": 83, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Nelfinavir also decreased the hypoxic induction of HIF-1alpha, which also regulates the VEGF promoter, most likely by decreasing its translation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 88, "end": 92}], "disease": [{"text": "hypoxic", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "COPZ2 (but not COPZ1) was down-regulated in the majority of tumor cell lines and in clinical samples of different cancer types.", "output": {"entities": {"gene": [{"text": "COPZ2", "start": 0, "end": 5}], "disease": [{"text": "cancer", "start": 114, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Possible mechanisms for this include cerebral inflammation, aberrant processing of Notch3, or disrupted intracellular calcium regulation.", "output": {"entities": {"gene": [{"text": "Notch3", "start": 83, "end": 89}], "disease": [{"text": "inflammation", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "By contrast, early-onset vincristine-induced peripheral neuropathy was characterised by upregulation of genes involved in cell cycle and proliferation, including AURKA (3 & #183; 31 times; p = 1 & #183; 04 & #215; 10 (-2)) and MKI67 (3 & #183; 66 times; p = 1 & #183; 82 & #215; 10 (-3)), and the presence of SNPs in genes involved in these processes-eg, GLI1 (rs2228224 [0 & #183; 13, 0 & #183; 02-0 & #183; 97, p = 1 & #183; 18 & #215; 10 (-2)] and rs2242578 [0 & #183; 14, 0 & #183; 02-1 & #183; 12, p = 3 & #183; 00 & #215; 10 (-2)]).", "output": {"entities": {"gene": [{"text": "GLI1", "start": 355, "end": 359}], "disease": [{"text": "peripheral neuropathy", "start": 45, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLI1", "start": 355, "end": 359}, "tail": {"text": "peripheral neuropathy", "start": 45, "end": 66}}]}}, "schema": []}
{"input": "DESIGN: Genomic DNA from 38 unrelated Tunisian patients with sporadic hydatidiform moles were screened by sequencing all NLRP7 exons.", "output": {"entities": {"gene": [{"text": "NLRP7", "start": 121, "end": 126}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our data show for the first time the contribution of TRAF3IP2 genetic variability in SLE susceptibility, providing further suggestions that common variation in genes that function in the adaptive and innate arms of the immune system are important in establishing SLE risk.", "output": {"entities": {"gene": [{"text": "TRAF3IP2", "start": 68, "end": 76}], "disease": [{"text": "arms", "start": 222, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "A blunting of GH responses in abstinent AD men was observed only among those with the most common HTR1B promoter diplotype.", "output": {"entities": {"gene": [{"text": "GH", "start": 14, "end": 16}], "disease": [{"text": "AD", "start": 40, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GH", "start": 14, "end": 16}, "tail": {"text": "AD", "start": 40, "end": 42}}]}}, "schema": []}
{"input": "Hypotension, autonomic failure, and cardiac hypertrophy in transgenic mice overexpressing the alpha 1B-adrenergic receptor.", "output": {"entities": {"gene": [{"text": "alpha 1B-adrenergic receptor", "start": 94, "end": 122}], "disease": [{"text": "cardiac hypertrophy", "start": 36, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha 1B-adrenergic receptor", "start": 94, "end": 122}, "tail": {"text": "cardiac hypertrophy", "start": 36, "end": 55}}]}}, "schema": []}
{"input": "Multiple novel loci merit further examination for association with lithium response in bipolar disorder patients, including one region that spans the GRIA2 gene, for which expression has been shown to be regulated by lithium treatment.", "output": {"entities": {"gene": [{"text": "GRIA2", "start": 150, "end": 155}], "disease": [{"text": "bipolar disorder", "start": 87, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIA2", "start": 150, "end": 155}, "tail": {"text": "bipolar disorder", "start": 87, "end": 103}}]}}, "schema": []}
{"input": "To test this hypothesis, we constructed a bicistronic adenoviral vector expressing both the RPL23 and p53 genes (Ad-RPL23/p53) and compared its tumor-suppressor activity in human gastric cancer with that of a single gene vector for p53 (Ad-p53).", "output": {"entities": {"gene": [{"text": "RPL23", "start": 92, "end": 97}], "disease": [{"text": "gastric cancer", "start": 179, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "It is known that N-acetylcysteine (NAC) is effective in various experimental renal injury models; however, little information is available about the rat model of glycerol-induced rhabdomyolysis.", "output": {"entities": {"gene": [{"text": "NAC", "start": 35, "end": 38}], "disease": [{"text": "rhabdomyolysis", "start": 179, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "TSA treatment did not alter the DNA-binding activity of Sp1 toward the P-Rex1 promoter; however, it facilitated the dissociation of the repressive HDAC1 and HDAC2 from the Sp1 binding region.", "output": {"entities": {"gene": [{"text": "HDAC2", "start": 157, "end": 162}], "disease": [{"text": "dissociation", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness.", "output": {"entities": {"gene": [{"text": "MIM", "start": 37, "end": 40}], "disease": [{"text": "skin lesions", "start": 147, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.", "output": {"entities": {"gene": [{"text": "K10", "start": 32, "end": 35}], "disease": [{"text": "epidermolytic hyperkeratosis", "start": 59, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K10", "start": 32, "end": 35}, "tail": {"text": "epidermolytic hyperkeratosis", "start": 59, "end": 87}}]}}, "schema": []}
{"input": "Alpers syndrome with mutations in POLG: clinical and investigative features.", "output": {"entities": {"gene": [{"text": "POLG", "start": 34, "end": 38}], "disease": [{"text": "Alpers syndrome", "start": 0, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POLG", "start": 34, "end": 38}, "tail": {"text": "Alpers syndrome", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "Here, we used next-generation resequencing of pooled DNA and individual Sequenom genotyping to test for associations between FRMD4B SNPs and ischemic and/or nonischemic cardiomyopathy in two independent populations.", "output": {"entities": {"gene": [{"text": "FRMD4B", "start": 125, "end": 131}], "disease": [{"text": "cardiomyopathy", "start": 169, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Intratumoral spread of MV-NIS was noninvasively demonstrated by serial gamma-camera imaging of iodine-123 (123I) uptake both in MV-sensitive KAS-6/1 myeloma xenografts, which regressed completely after a single intravenous dose of MV-NIS, and in MM1 myeloma xenografts, which were unresponsive to MVNIS therapy.", "output": {"entities": {"gene": [{"text": "MM1", "start": 246, "end": 249}], "disease": [{"text": "myeloma", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The authors studied the expression of CD95 (Fas) in biopsy samples of normal skin (not exposed to sun) and compared it with chronically sun-exposed skin (as evidenced by solar elastosis), AK, squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), and keratoacanthomas (KA).", "output": {"entities": {"gene": [{"text": "CD95", "start": 38, "end": 42}], "disease": [{"text": "basal cell carcinoma", "start": 226, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "In order to examine the transforming potential of the K-fgf gene in the nervous system, we combined retrovirus-mediated transfer of the K-fgf oncogene with a single transplacental exposure of the donor animals to the neurotropic carcinogen N-ethyl-N-nitrosourea (NEU).", "output": {"entities": {"gene": [{"text": "K-fgf", "start": 54, "end": 59}], "disease": [{"text": "nervous system", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The treatment with Ang (1-7) attenuated STZ-induced nephropathy in rats by decreasing proteinuria, renal collagen content and by improving endothelial functions without preventing tubular damage.", "output": {"entities": {"gene": [{"text": "STZ", "start": 40, "end": 43}], "disease": [{"text": "nephropathy", "start": 52, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We found biochemical evidence suggesting that resveratrol protects against Wallerian degeneration by promoting the dissociation of SIRT1 and DBC1 in cultured ganglia.", "output": {"entities": {"gene": [{"text": "DBC1", "start": 141, "end": 145}], "disease": [{"text": "Wallerian degeneration", "start": 75, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DBC1", "start": 141, "end": 145}, "tail": {"text": "Wallerian degeneration", "start": 75, "end": 97}}]}}, "schema": []}
{"input": "The purpose of the current study was to evaluate the importance of androgen receptor (AR) gene haplotypes and polymorphic CAG/GGN microsatellites in the aetiology of male infertility.", "output": {"entities": {"gene": [{"text": "GGN", "start": 126, "end": 129}], "disease": [{"text": "male infertility", "start": 166, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "ERAP1 polymorphism is associated with ankylosing spondylitis among HLA-B27-positive individuals and the altered enzymatic activity of natural variants has significant effects on the HLA-B27 peptidome, suggesting a critical pathogenetic role of peptides in this disease.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 0, "end": 5}], "disease": [{"text": "spondylitis", "start": 49, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In contrast, a cluster of 5-7 individual seizures evoked by kainic acid (KA) rapidly (within 30 min) induced γ-H2AX in multiple neuronal populations in hippocampus and entorhinal cortex.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 111, "end": 115}], "disease": [{"text": "seizures", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that increased NTSR1 expression may be an early event during colonic tumorigenesis and also contribute to tumor progression and aggressive behavior in colonic adenocarcinomas.", "output": {"entities": {"gene": [{"text": "NTSR1", "start": 37, "end": 42}], "disease": [{"text": "aggressive behavior", "start": 150, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Unadjusted analyses showed that compared with normal children, homozygous α (+)-thalassemia individuals had a higher prevalence of anemia (82. 3% versus 66. 8%, P = 0. 001), but a lower prevalence of low RBP (20. 5% versus 31. 4%, P = 0. 024).]", "output": {"entities": {"gene": [{"text": "RBP", "start": 204, "end": 207}], "disease": [{"text": "anemia", "start": 131, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of LAMB1 and miR-124-5p were examined in glioma cell lines (U87 and U251) and GBM tissue samples by quantitative PCR and Western blotting.", "output": {"entities": {"gene": [{"text": "U87", "start": 82, "end": 85}], "disease": [{"text": "glioma", "start": 63, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These results suggested that PAX4 R192H polymorphism generated a protein with defect in transcriptional repressor activities on its target genes, which may lead to & #946;-cell dysfunction associated with MODY and early onset-age of T2D as reported in our previous study.", "output": {"entities": {"gene": [{"text": "PAX4", "start": 29, "end": 33}], "disease": [{"text": "MODY", "start": 205, "end": 209}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX4", "start": 29, "end": 33}, "tail": {"text": "MODY", "start": 205, "end": 209}}]}}, "schema": []}
{"input": "The MSH6 G39E germline polymorphism is not associated with an increased risk of either microsatellite stable or unstable sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 4, "end": 8}], "disease": [{"text": "sporadic", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis of several candidates confirmed the SAGE findings, and suggested the involvement of the PI3K-Akt and MAPK signaling pathways in endometriosis.", "output": {"entities": {"gene": [{"text": "SAGE", "start": 65, "end": 69}], "disease": [{"text": "endometriosis", "start": 157, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The metformin-treated group showed increased VEGF expression, intratumoral microvascular density and reduced necrosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 45, "end": 49}], "disease": [{"text": "necrosis", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "By studying the effect of hypoxia on VV infection, we found that vascular endothelial growth factor A (VEGF-A) augments oncolytic VV cytotoxicity.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 103, "end": 109}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "We conclude that paclitaxel transiently transactivates EGFR, leading to activation of cell survival factors, such as ERK and AKT, and expression of survivin, which are all inclusively accountable for ovarian cancer cell resistance to paclitaxel treatment.", "output": {"entities": {"gene": [{"text": "ERK", "start": 117, "end": 120}], "disease": [{"text": "ovarian cancer", "start": 200, "end": 214}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK", "start": 117, "end": 120}, "tail": {"text": "ovarian cancer", "start": 200, "end": 214}}]}}, "schema": []}
{"input": "The existence of distinguishing molecular features was explored in a series of serrated polyps and matched normal mucosa from patients with and without hyperplastic polyposis by assessing mutation of BRAF, DNA methylation in 14 markers (MINTs 1, 2 and 31, p16, MGMT, MLH1, RASSF1, RASSF2, NORE1 (RASSF5), RKIP, MST1, DAPK, FAS, and CHFR), and immunoexpression of MLH1.", "output": {"entities": {"gene": [{"text": "RASSF2", "start": 281, "end": 287}], "disease": [{"text": "polyps", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Androgen insensitivity syndromes are due to defects in the androgen receptor gene.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 59, "end": 76}], "disease": [{"text": "Androgen insensitivity syndromes", "start": 0, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 59, "end": 76}, "tail": {"text": "Androgen insensitivity syndromes", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "To test the effects of MAPK inhibitors on beta-cell death by necrosis or apoptosis, these cells were exposed for 6 or 9 days to IL-1 beta + IFN-gamma.", "output": {"entities": {"gene": [{"text": "IL-1 beta", "start": 128, "end": 137}], "disease": [{"text": "necrosis", "start": 61, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1 beta", "start": 128, "end": 137}, "tail": {"text": "necrosis", "start": 61, "end": 69}}]}}, "schema": []}
{"input": "ATP binding cassette transporters (ABCA1, ABCG1) and scavenger receptor class B type I (SR-BI) are the three most important cellular cholesterol transporters that may prevent atherogenesis.", "output": {"entities": {"gene": [{"text": "ABCG1", "start": 42, "end": 47}], "disease": [{"text": "atherogenesis", "start": 175, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "We report on five fetuses with giant diencephalic hamartoma and other midline brain and facial malformations, without mutation in the GLI3 gene or genomic rearrangements in three of them.", "output": {"entities": {"gene": [{"text": "GLI3 gene", "start": 134, "end": 143}], "disease": [{"text": "giant", "start": 31, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Nucleic acids from prospective nested series of 123 patients with Cowden syndrome or Cowden-like syndrome and 50 unaffected individuals without PTEN variants were analyzed for germline methylation and expression of PTEN and KILLIN at the Cleveland Clinic, August 2008-June 2010.", "output": {"entities": {"gene": [{"text": "KILLIN", "start": 224, "end": 230}], "disease": [{"text": "Cowden syndrome", "start": 66, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KILLIN", "start": 224, "end": 230}, "tail": {"text": "Cowden syndrome", "start": 66, "end": 81}}]}}, "schema": []}
{"input": "Positive correlations were observed between anti-PAD4 and disease duration; anti-CCP and erythrocyte sedimentation rate (ESR); anti-MCV and ESR and C-reactive protein.", "output": {"entities": {"gene": [{"text": "PAD4", "start": 49, "end": 53}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 89, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, hypoxia induced both vascular endothelial growth factor (VEGF) and VEGF receptor-2 expression through the Rho/ROCK/HIF-1alpha signaling in HUVECs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 70, "end": 74}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Interferon-stimulated gene 15 (ISG15) conjugates proteins in dermatomyositis muscle with perifascicular atrophy.", "output": {"entities": {"gene": [{"text": "ISG15", "start": 31, "end": 36}], "disease": [{"text": "atrophy", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3) expression is epigenetically regulated by one-carbon metabolism in invasive duct cell carcinoma of breast.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 51, "end": 56}], "disease": [{"text": "adenovirus", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Significant genotype differences were observed in podocyte foot process effacement for rs1187321 and rs1187323 of NTRK2.", "output": {"entities": {"gene": [{"text": "NTRK2", "start": 114, "end": 119}], "disease": [{"text": "podocyte foot process effacement", "start": 50, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.", "output": {"entities": {"gene": [{"text": "RPE65", "start": 0, "end": 5}], "disease": [{"text": "Leber Congenital Amaurosis", "start": 46, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RPE65", "start": 0, "end": 5}, "tail": {"text": "Leber Congenital Amaurosis", "start": 46, "end": 72}}]}}, "schema": []}
{"input": "The reported abnormalities represent a wide spectrum of changes including increased GFR, normal or decreased RPF, slight increase in blood pressure (although within the normal range), and an exaggerated natriuresis response to a sodium load.", "output": {"entities": {"gene": [{"text": "GFR", "start": 84, "end": 87}], "disease": [{"text": "abnormalities", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We studied 22 polymorphisms in relevant candidate genes, some related to periodontitis, in children with NTM lymphadenitis.", "output": {"entities": {"gene": [{"text": "NTM", "start": 105, "end": 108}], "disease": [{"text": "periodontitis", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We report a case of a primary synovial sarcoma of the distal duodenum with SYT/SSX2 type of the t (X; 18) translocation.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 79, "end": 83}], "disease": [{"text": "translocation", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Further, SERPINA3K blocked the overexpression of proinflammatory factors, such as VEGF, TNF-alpha, and ICAM-1, in the retina of the OIR model and in cultured retinal cells exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 82, "end": 86}], "disease": [{"text": "hypoxia", "start": 183, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Therefore, here we have shown that FBXO25 is a novel F-box protein analogous to atrogin-1, which is not involved in muscle atrophy.", "output": {"entities": {"gene": [{"text": "FBXO25", "start": 35, "end": 41}], "disease": [{"text": "muscle atrophy", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The findings substantiate an association between PSD and stroke.", "output": {"entities": {"gene": [{"text": "PSD", "start": 49, "end": 52}], "disease": [{"text": "stroke", "start": 57, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Severity of meningococcal disease in children and the angiotensin-converting enzyme insertion/deletion polymorphism.", "output": {"entities": {"gene": [{"text": "angiotensin-converting enzyme", "start": 54, "end": 83}], "disease": [{"text": "meningococcal disease", "start": 12, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin-converting enzyme", "start": 54, "end": 83}, "tail": {"text": "meningococcal disease", "start": 12, "end": 33}}]}}, "schema": []}
{"input": "Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 47, "end": 58}], "disease": [{"text": "bone mineral density", "start": 92, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We tested DNA extracted from 85 lung adenocarcinoma specimens collected from 40 Hispanic and 43 non-Hispanic white patients for previously reported mutations in KRAS, MET, BRAF, mTOR, STAT3, JAK2, PIK3CA, AKT1 through AKT3, and PTEN with a custom Sequenom massARRAY assay (Sequenom, San Diego, California).", "output": {"entities": {"gene": [{"text": "AKT3", "start": 218, "end": 222}], "disease": [{"text": "lung adenocarcinoma", "start": 32, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Variation in CAG and GGN repeat lengths and CAG/GGN haplotype in androgen receptor gene polymorphism and prostate carcinoma in Nigerians.", "output": {"entities": {"gene": [{"text": "GGN", "start": 21, "end": 24}], "disease": [{"text": "prostate carcinoma", "start": 105, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "STAB1 is located in close proximity to PBMR1 and the NEK4-ITIH1-ITIH3-ITIH4 region, which are the top findings from GWAS meta-analyses of mood disorder, and a combined BD and schizophrenia data set.", "output": {"entities": {"gene": [{"text": "ITIH4", "start": 70, "end": 75}], "disease": [{"text": "BD", "start": 168, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITIH4", "start": 70, "end": 75}, "tail": {"text": "BD", "start": 168, "end": 170}}]}}, "schema": []}
{"input": "Further immunohistochemical characterization of BRD1 a new susceptibility gene for schizophrenia and bipolar affective disorder.", "output": {"entities": {"gene": [{"text": "BRD1", "start": 48, "end": 52}], "disease": [{"text": "bipolar affective disorder", "start": 101, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRD1", "start": 48, "end": 52}, "tail": {"text": "bipolar affective disorder", "start": 101, "end": 127}}]}}, "schema": []}
{"input": "Addition of recombinant PAPP-A to ascites increased the cleavage of IGFBP-4 and enhanced IGF-IR activation (P < 0. 05).", "output": {"entities": {"gene": [{"text": "IGF", "start": 68, "end": 71}], "disease": [{"text": "ascites", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "FGFR1,-2, and-4, VEGFR2, PDGFRα, and p16 were overexpressed in primary human pheochromocytomas and paragangliomas.", "output": {"entities": {"gene": [{"text": "VEGFR2", "start": 17, "end": 23}], "disease": [{"text": "paragangliomas", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Like NPY, the gut hormone PYY has the potential to attenuate depression-like behaviour but does not share the ability of NPY to reduce anxiety-like behaviour.", "output": {"entities": {"gene": [{"text": "PYY", "start": 26, "end": 29}], "disease": [{"text": "depression", "start": 61, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PYY", "start": 26, "end": 29}, "tail": {"text": "depression", "start": 61, "end": 71}}]}}, "schema": []}
{"input": "Fludarabine reduces survivability of HepG2 cells through VEGF under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 57, "end": 61}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In addition, ARID3B has been linked to cellular immortalization, epithelial-mesenchymal transition (EMT) and tumorigenesis.", "output": {"entities": {"gene": [{"text": "ARID3B", "start": 13, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Because hypoxia mediates VEGF up-regulation through hypoxia-inducible factor-1alpha (HIF1alpha) induction, we studied the relationships of hypoxia, HIF1alpha expression, and expression of VEGF in this damage pathway.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 25, "end": 29}], "disease": [{"text": "hypoxia", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene.", "output": {"entities": {"gene": [{"text": "ATPase 6", "start": 124, "end": 132}], "disease": [{"text": "LS", "start": 63, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATPase 6", "start": 124, "end": 132}, "tail": {"text": "LS", "start": 63, "end": 65}}]}}, "schema": []}
{"input": "The results suggest a correlation between clinical manifestations and qualitative and quantitative abnormalities of XPA protein products.", "output": {"entities": {"gene": [{"text": "XPA", "start": 116, "end": 119}], "disease": [{"text": "abnormalities", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827).", "output": {"entities": {"gene": [{"text": "GGT", "start": 445, "end": 448}], "disease": [{"text": "inflammation", "start": 319, "end": 331}]}, "relations": {}}, "schema": []}
{"input": "Previous evidence of significantly greater DBP pressor effects when caffeine is consumed under stressful conditions was confirmed.", "output": {"entities": {"gene": [{"text": "DBP", "start": 43, "end": 46}], "disease": [{"text": "caffeine", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "MRI and MRS findings in fucosidosis; a rare lysosomal storage disease.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "lysosomal storage disease", "start": 44, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "No significant association was found between either tumor necrosis factor A or B genotype and parameters for multiple organ failure or liver injury.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor", "start": 52, "end": 73}], "disease": [{"text": "multiple organ failure", "start": 109, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor", "start": 52, "end": 73}, "tail": {"text": "multiple organ failure", "start": 109, "end": 131}}]}}, "schema": []}
{"input": "The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene.", "output": {"entities": {"gene": [{"text": "MED12", "start": 84, "end": 89}], "disease": [{"text": "Lujan syndrome", "start": 13, "end": 27}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MED12", "start": 84, "end": 89}, "tail": {"text": "Lujan syndrome", "start": 13, "end": 27}}]}}, "schema": []}
{"input": "In the present study, we found that exposure to hypoxic conditions increases the levels of NMBR mRNA and protein in breast cancer cells, which are tightly regulated by hypoxia-inducible factor-1α (HIF-1α).", "output": {"entities": {"gene": [{"text": "NMBR", "start": 91, "end": 95}], "disease": [{"text": "hypoxic", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.", "output": {"entities": {"gene": [{"text": "WDR37", "start": 20, "end": 25}], "disease": [{"text": "Developmental Delay", "start": 80, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WDR37", "start": 20, "end": 25}, "tail": {"text": "Developmental Delay", "start": 80, "end": 99}}]}}, "schema": []}
{"input": "According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations.", "output": {"entities": {"gene": [{"text": "GRHL3", "start": 61, "end": 66}], "disease": [{"text": "VWS", "start": 208, "end": 211}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GRHL3", "start": 61, "end": 66}, "tail": {"text": "VWS", "start": 208, "end": 211}}]}}, "schema": []}
{"input": "Three members of the caspase recruitment domain (CARD) family of adaptors (CARD9, CARD10, and CARD11) are known to form heterotrimers with B-cell lymphoma 10 (BCL10) and mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (MALT1).", "output": {"entities": {"gene": [{"text": "MALT1", "start": 235, "end": 240}], "disease": [{"text": "translocation", "start": 213, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "DNA methylation changes at a number of these genes have been linked to various forms of human disease, including cancers, such as asthma and acute myeloid leukemia (ALOX12), gastric cancer (EBF3), breast cancer (NAV1), colon cancer and acute lymphoid leukemia (KCNK15), Wilms tumor (protocadherin gene cluster; PCDHAs) and colorectal cancer (TCERG1L), suggesting a potential etiologic role for MEs in tumorigenesis and underscoring the possible developmental origins of these malignancies.", "output": {"entities": {"gene": [{"text": "KCNK15", "start": 261, "end": 267}], "disease": [{"text": "gastric cancer", "start": 174, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Because adrenomedullin had no effects on ANG II-and norepinephrine-induced left ventricular hypertrophy, circulating adrenomedullin appears to act mainly as a regulator of vascular tone and cardiac function.", "output": {"entities": {"gene": [{"text": "ANG", "start": 41, "end": 44}], "disease": [{"text": "ventricular hypertrophy", "start": 80, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Examining a pathophysiological role of SgII in the initial phase of post-infarction HF, the SgII fragment secretoneurin reduced myocardial ischemia-reperfusion injury and cardiomyocyte apoptosis by 30% and rapidly increased cardiomyocyte Erk1/2 and Stat3 phosphorylation.", "output": {"entities": {"gene": [{"text": "Erk1", "start": 238, "end": 242}], "disease": [{"text": "infarction", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that the production of hydrogen peroxide derived from MnSOD dismutation activated caspase-8, which might down-regulate Bcl-2 expression and induce Bax translocation to mitochondria.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 138, "end": 143}], "disease": [{"text": "translocation", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Association of CARD15 polymorphisms with atopy-related traits in a population-based cohort of Caucasian adults.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 15, "end": 21}], "disease": [{"text": "atopy", "start": 41, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "This case report and the results obtained from the literature review support the growing body of evidence that IFN-alpha has a major place in the long-term treatment of HES, especially in those cases resistant to conventional treatment, with cytogenetic abnormalities, or presenting as a myeloproliferative variant of HES.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 111, "end": 120}], "disease": [{"text": "cytogenetic abnormalities", "start": 242, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "The p24 T242N variant escape from B57/58 CTL had a significant impact on the HIV-1 viral load of CRF01_AE-infected patients.", "output": {"entities": {"gene": [{"text": "p24", "start": 4, "end": 7}], "disease": [{"text": "viral load", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Viral replication was measured by viral p24 or viral load quantification.", "output": {"entities": {"gene": [{"text": "p24", "start": 40, "end": 43}], "disease": [{"text": "viral load", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We selected primary NMI-BC according to the following criteria: complete resection, primary occurrence of urothelial cell carcinoma, stage cTa or T1, low grade, no carcinoma in situ.", "output": {"entities": {"gene": [{"text": "NMI", "start": 20, "end": 23}], "disease": [{"text": "carcinoma", "start": 122, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The majority of dying cells acquired propidium iodide positivity instantly when they became positive for Annexin V, suggesting induction of necrosis.", "output": {"entities": {"gene": [{"text": "Annexin V", "start": 105, "end": 114}], "disease": [{"text": "necrosis", "start": 140, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "In this study we have shown that IGF2 ApaI and IGF2R Gly1619Arg gene polymorphisms are not associated with male infertility.", "output": {"entities": {"gene": [{"text": "IGF2R", "start": 47, "end": 52}], "disease": [{"text": "male infertility", "start": 107, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Specific and complementary roles of genetic factors have been delineated: a common functional length polymorphism in the serotonin transporter gene (5-HTTLPR) moderated the effect of childhood maltreatment on chronic depression in adulthood, but did not substantially influence the effects of adult stressful life events on the onset of new depressive episodes; in contrast, a common functional polymorphism in the brain-derived neurotrophic factor gene (BDNF) moderated the effect of stressful life events in adulthood in triggering new depressive episodes, but did not influence the effects of childhood maltreatment.", "output": {"entities": {"gene": [{"text": "5-HTTLPR", "start": 149, "end": 157}], "disease": [{"text": "chronic depression", "start": 209, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HTTLPR", "start": 149, "end": 157}, "tail": {"text": "chronic depression", "start": 209, "end": 227}}]}}, "schema": []}
{"input": "Autologous rabbit jugular vein grafts were incubated ex vivo in a solution of adenovirus vectors containing CNP gene (Ad. CNP) or Escherichia coli lac Z gene (Ad. LacZ) and then interposed in the carotid artery.", "output": {"entities": {"gene": [{"text": "CNP", "start": 108, "end": 111}], "disease": [{"text": "adenovirus", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We also revealed that the hypoxia-induced overproduction of reactive oxygen species played a crucial role in the inhibition of JAK2V617F through the oxidation and inhibition of SHP-2, a protein tyrosine phosphatase that contains SH-2, which is required for JAK2 activation.", "output": {"entities": {"gene": [{"text": "SHP-2", "start": 177, "end": 182}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The decreases in mRNA abundance for MDH1 (P = 0. 006), HINT1 (P = 0. 050), and neuroserpin (P = 0. 005) in DLPFC of male individuals with schizophrenia is consistent with prior reports.", "output": {"entities": {"gene": [{"text": "MDH1", "start": 36, "end": 40}], "disease": [{"text": "schizophrenia", "start": 138, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MDH1", "start": 36, "end": 40}, "tail": {"text": "schizophrenia", "start": 138, "end": 151}}]}}, "schema": []}
{"input": "De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 19, "end": 27}], "disease": [{"text": "sporadic", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.", "output": {"entities": {"gene": [{"text": "calcium-sensing receptor", "start": 74, "end": 98}], "disease": [{"text": "familial hypocalciuric hypercalcemia", "start": 107, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "calcium-sensing receptor", "start": 74, "end": 98}, "tail": {"text": "familial hypocalciuric hypercalcemia", "start": 107, "end": 143}}]}}, "schema": []}
{"input": "Aggregation of the protein TRIOBP-1 and its potential relevance to schizophrenia.", "output": {"entities": {"gene": [{"text": "TRIOBP", "start": 27, "end": 33}], "disease": [{"text": "schizophrenia", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "PDE10A has been implicated in the pathophysiology of psychosis.", "output": {"entities": {"gene": [{"text": "PDE10A", "start": 0, "end": 6}], "disease": [{"text": "psychosis", "start": 53, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE10A", "start": 0, "end": 6}, "tail": {"text": "psychosis", "start": 53, "end": 62}}]}}, "schema": []}
{"input": "Brain-derived neurotrophic factor (BDNF) has been reported to protect retinal neurons against ischemia and light-induced damage.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 35, "end": 39}], "disease": [{"text": "ischemia", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Since the frequency of several of the manifestations, their sporadic presentations, and the presence of keloid formation differ from the X-linked form of this condition we propose de novo autosomal dominant acting mutations in a gene functionally related to FLNA, underpin this disorder.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 258, "end": 262}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The hypothesis that trazodone may be effective in treating MEI, at least in cases that are steroid-dependent or resistant to ACTH, appears highly interesting.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 125, "end": 129}], "disease": [{"text": "MEI", "start": 59, "end": 62}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 125, "end": 129}, "tail": {"text": "MEI", "start": 59, "end": 62}}]}}, "schema": []}
{"input": "Missense mutations in the valosin-containing protein (VCP) gene on chromosome 9p13. 3-p12 cause inclusion body myopathy with Paget disease of bone and frontotemporal dementia (hereafter referred to as IBMPFD; OMIM 167320).", "output": {"entities": {"gene": [{"text": "p12", "start": 86, "end": 89}], "disease": [{"text": "frontotemporal dementia", "start": 151, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Primary hyperparathyroidism (pHPT) is characterized by excessive production of parathyroid hormone (PTH) due to parathyroid adenomas while uremic secondary HPT (sHPT) is caused by parathyroid hyperplasia in response to renal failure.", "output": {"entities": {"gene": [{"text": "HPT", "start": 30, "end": 33}], "disease": [{"text": "renal failure", "start": 219, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "In our cohort of 104 untreated patients carrying + 12, NOTCH1 mutations occurred in 24% of cases and were associated to unmutated IGHV genes (P = 0. 003) and + 12 as a sole cytogenetic abnormality (P = 0. 008).", "output": {"entities": {"gene": [{"text": "NOTCH1", "start": 55, "end": 61}], "disease": [{"text": "cytogenetic abnormality", "start": 173, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that genetic and non-genetic factors can modulate the clinical impact of mutant MTP in ABL patients.", "output": {"entities": {"gene": [{"text": "MTP", "start": 103, "end": 106}], "disease": [{"text": "ABL", "start": 110, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTP", "start": 103, "end": 106}, "tail": {"text": "ABL", "start": 110, "end": 113}}]}}, "schema": []}
{"input": "Increased expression of receptor phosphotyrosine phosphatase-& #946;/& #950; is associated with molecular, cellular, behavioral and cognitive schizophrenia phenotypes.", "output": {"entities": {"gene": [{"text": "phosphotyrosine phosphatase", "start": 33, "end": 60}], "disease": [{"text": "schizophrenia", "start": 142, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "phosphotyrosine phosphatase", "start": 33, "end": 60}, "tail": {"text": "schizophrenia", "start": 142, "end": 155}}]}}, "schema": []}
{"input": "In vitro, using serum starvation-refeeding experiment, our results suggested that SYF2 was upregulated in proliferating HCC cells, and was positive correlated with the expression of PCNA and Cyclin D1.", "output": {"entities": {"gene": [{"text": "HCC", "start": 120, "end": 123}], "disease": [{"text": "starvation", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We focused on genes important in vascular autonomic physiology, and/or activated by hypoxia; hypoxia inducible factor 1-alpha (HIF 1-alpha), 2 splicing variants of vascular endothelial growth factor (VEGF); VEGF-121, VEGF-165, and phosphoglycerate kinase 1 (PGK 1).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 200, "end": 204}], "disease": [{"text": "hypoxia", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Other smoking-related variables (ie, age at initiation, total duration, average number of cigarettes smoked per day, cumulative pack-years, and induction period) were also associated with MSI-high, CIMP-positive, and BRAF mutation-positive tumor subtypes.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 217, "end": 221}], "disease": [{"text": "smoking", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "The t (8; 21) (q22; q22) translocation, which fuses the ETO gene on human chromosome 8 with the AML1 gene on chromosome 21 (AML1-ETO), is one of the most frequent cytogenetic abnormalities associated with acute myelogenous leukemia (AML).", "output": {"entities": {"gene": [{"text": "AML1", "start": 96, "end": 100}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Orexin A gene expression was statistically significantly correlated with the Satisfaction with Life Scale (r =-0. 28, p = 0. 018), a visual analogue scale of craving (r = 0. 734, p = 0. 000) and three subscales of the World Health Organization Alcohol, Smoking and Substance Involvement Screening Test, i. e. nicotine consumption (r = 0. 388, p = 0. 001), alcohol consumption (r = 0. 354, p = 0. 002) and cannabis consumption (r = 0. 783, p = 0. 000).", "output": {"entities": {"gene": [{"text": "Orexin", "start": 0, "end": 6}], "disease": [{"text": "cannabis", "start": 405, "end": 413}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Orexin", "start": 0, "end": 6}, "tail": {"text": "cannabis", "start": 405, "end": 413}}]}}, "schema": []}
{"input": "Eight compounds were shown to inhibit VEGF expression in hypoxic cells at subtoxic concentrations.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 38, "end": 42}], "disease": [{"text": "hypoxic", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "SASH1, a member of the SLY-family of signal adapter proteins, is a candidate tumor suppressor in breast and colon cancer.", "output": {"entities": {"gene": [{"text": "SLY", "start": 23, "end": 26}], "disease": [{"text": "colon cancer", "start": 108, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Primary skin fibroblasts from seven PBD-ZSD patients with biallelic PEX1, PEX10, PEX12, or PEX26 mutations and three healthy donors were transduced with retroviral vectors expressing Yamanaka reprogramming factors.", "output": {"entities": {"gene": [{"text": "PEX12", "start": 81, "end": 86}], "disease": [{"text": "PBD-ZSD", "start": 36, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PEX12", "start": 81, "end": 86}, "tail": {"text": "PBD-ZSD", "start": 36, "end": 43}}]}}, "schema": []}
{"input": "In pancreatic cancer cells constitutively expressing mda-7/IL-24 mRNA, a single treatment with arsenic trioxide, HPR or NSC656240 induces apoptosis, which correlates with production of MDA-7/IL-24 protein.", "output": {"entities": {"gene": [{"text": "HPR", "start": 113, "end": 116}], "disease": [{"text": "pancreatic cancer", "start": 3, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Except for BCL6, we confirmed protein expression of FRA2, JUND, CCR4, MYB, and MDM2 in CTCL skin lesions.", "output": {"entities": {"gene": [{"text": "FRA2", "start": 52, "end": 56}], "disease": [{"text": "skin lesions", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In contrast, IgD deficiency appears not to contribute to increased infections and appears to be a dominant trait determined by a gene or genes on the extended major histocompatibility complex (MHC) haplotype [HLA-B 18, S042, DR2] (but probably not on type II C2-deficient haplotypes) similar to those previously identified on [HLA-B8, SC01, DR3] and [HLA-B18, F1C30, DR3].", "output": {"entities": {"gene": [{"text": "DR3", "start": 341, "end": 344}], "disease": [{"text": "infections", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The frequency of radiographic signs of sacroiliac joint involvement (greater than or equal to 2 and greater than or equal to 3 according to the New York criteria) was significantly higher in 28 HLA-B27 positive patients with classical seropositive rheumatoid arthritis (RA), than in 28 B27 negative RA controls.", "output": {"entities": {"gene": [{"text": "B27", "start": 198, "end": 201}], "disease": [{"text": "rheumatoid arthritis", "start": 248, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "PC-1/PrLZ gene overexpression has been identified to be associated with prostate cancer progression.", "output": {"entities": {"gene": [{"text": "PrLZ", "start": 5, "end": 9}], "disease": [{"text": "prostate cancer", "start": 72, "end": 87}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PrLZ", "start": 5, "end": 9}, "tail": {"text": "prostate cancer", "start": 72, "end": 87}}]}}, "schema": []}
{"input": "Applying immunohistochemistry, we further validated expression of cyclin I and GDI2 in additional pancreatic carcinomas.", "output": {"entities": {"gene": [{"text": "cyclin I", "start": 66, "end": 74}], "disease": [{"text": "carcinomas", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue.", "output": {"entities": {"gene": [{"text": "NDP", "start": 138, "end": 141}], "disease": [{"text": "Coats' disease", "start": 77, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDP", "start": 138, "end": 141}, "tail": {"text": "Coats' disease", "start": 77, "end": 91}}]}}, "schema": []}
{"input": "We recently identified a missense mutation, R569W, in the MPO gene of many subjects with MPO deficiency.", "output": {"entities": {"gene": [{"text": "MPO", "start": 58, "end": 61}], "disease": [{"text": "MPO deficiency", "start": 89, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MPO", "start": 58, "end": 61}, "tail": {"text": "MPO deficiency", "start": 89, "end": 103}}]}}, "schema": []}
{"input": "As in other metabolic disorders, the distinction between \" normal \" and \" disease \" in MCAD deficiency is blurring into a spectrum of enzyme deficiency states caused by different mutations in the ACADM gene potentially influenced by factors affecting intracellular protein processing.", "output": {"entities": {"gene": [{"text": "ACADM", "start": 196, "end": 201}], "disease": [{"text": "MCAD deficiency", "start": 87, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACADM", "start": 196, "end": 201}, "tail": {"text": "MCAD deficiency", "start": 87, "end": 102}}]}}, "schema": []}
{"input": "In HIF-1alpha knockdown DLD-1 colon cancer cells (DLD-1 (HIF-kd)), the hypoxic induction of vascular endothelial growth factor (VEGF) was only partially blocked.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 128, "end": 132}], "disease": [{"text": "hypoxic", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Slight ERG abnormalities later in life may be a result of changes induced by the inner ganglion cell layer in the inner nuclear layer.", "output": {"entities": {"gene": [{"text": "ERG", "start": 7, "end": 10}], "disease": [{"text": "abnormalities", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Accumulating evidence indicates that a role for the IGF-pathway in mammographic density and breast cancer development.", "output": {"entities": {"gene": [{"text": "IGF", "start": 52, "end": 55}], "disease": [{"text": "mammographic density", "start": 67, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In order to determine the prevalence and clinical significance of mutations in the basal core promoter (BCP) and precore (pC) regions among inactive carriers, the nucleotide sequences from 41 inactive carriers were analyzed and compared with those from 29 individuals with chronic active hepatitis.", "output": {"entities": {"gene": [{"text": "BCP", "start": 104, "end": 107}], "disease": [{"text": "chronic active hepatitis", "start": 273, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Progressive caseation of pulmonary granulomas never occurred in alphabeta TCR-KO, IL-12-KO, and IFN-gamma-KO mice and was reduced in CD4-KO mice.", "output": {"entities": {"gene": [{"text": "IFN", "start": 96, "end": 99}], "disease": [{"text": "granulomas", "start": 35, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "This translocation creates a fusion protein consisting of the acute myeloid leukemia-1 transcription factor and the eight-twenty-one corepressor (AML1 ETO), which represses transcription through AML1 (RUNX1) DNA binding sites and immortalizes hematopoietic progenitor cells.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 201, "end": 206}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that HDAC3 and HDAC4 genes might play a role in the pathophysiology of schizophrenia in a Korean population.", "output": {"entities": {"gene": [{"text": "HDAC4", "start": 35, "end": 40}], "disease": [{"text": "schizophrenia", "start": 91, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC4", "start": 35, "end": 40}, "tail": {"text": "schizophrenia", "start": 91, "end": 104}}]}}, "schema": []}
{"input": "TRO activates two parallel pathways: I] EGFR/MEK1/2/ERK1/2 and II] NHE1 inhibition/cellular acidosis.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 40, "end": 44}], "disease": [{"text": "acidosis", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The pathogenicity of the translocation may rest on collaborations among JAK2V617F-induced constitutive activation of JAK2, the oncogenic property of HMGA2, and disrupted pathways, such as alteration in DJ-1 expression, resulting from the impact of EFCAB6 abrogation.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 202, "end": 206}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Also, FUS has been found in neuronal cytoplasmic inclusions in sporadic forms of ALS, suggesting that FUS has an important role in the neurodegeneration occurring in sporadic disease.", "output": {"entities": {"gene": [{"text": "FUS", "start": 6, "end": 9}], "disease": [{"text": "sporadic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The upregulation of cyclin D1 gene expression and the downregulation of p57 (Kip2), accompanied by increased cyclin D/CDK4-dependent phosphorylation of pRb, acting as a checkpoint for G1/S phase transition, suggest abnormal cell cycle re-entry in postmitotic oligodendrocytes in SZ.", "output": {"entities": {"gene": [{"text": "Kip2", "start": 77, "end": 81}], "disease": [{"text": "SZ", "start": 279, "end": 281}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Kip2", "start": 77, "end": 81}, "tail": {"text": "SZ", "start": 279, "end": 281}}]}}, "schema": []}
{"input": "Rearrangement of the BCL-2 gene is the molecular consequence of the t (14; 18) chromosomal translocation, which is found in approximately 60-90% of follicular lymphomas.", "output": {"entities": {"gene": [{"text": "BCL-2 gene", "start": 21, "end": 31}], "disease": [{"text": "chromosomal translocation", "start": 79, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "MBL2 gene polymorphisms are associated with quantitative and qualitative MBL abnormalities in the serum.", "output": {"entities": {"gene": [{"text": "MBL", "start": 0, "end": 3}], "disease": [{"text": "abnormalities", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "Mybpc3", "start": 33, "end": 39}], "disease": [{"text": "cardiac hypertrophy", "start": 59, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mybpc3", "start": 33, "end": 39}, "tail": {"text": "cardiac hypertrophy", "start": 59, "end": 78}}]}}, "schema": []}
{"input": "C-C chemokine receptor 5 (CCR5) regulates leukocyte chemotaxis and activation, and its deficiency exacerbates development of nephritis.", "output": {"entities": {"gene": [{"text": "CCR5", "start": 26, "end": 30}], "disease": [{"text": "nephritis", "start": 125, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCR5", "start": 26, "end": 30}, "tail": {"text": "nephritis", "start": 125, "end": 134}}]}}, "schema": []}
{"input": "This technique has provided a powerful tool for direct analysis of the Btk gene for the diagnosis of XLA and carrier detection.", "output": {"entities": {"gene": [{"text": "Btk", "start": 71, "end": 74}], "disease": [{"text": "XLA", "start": 101, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Btk", "start": 71, "end": 74}, "tail": {"text": "XLA", "start": 101, "end": 104}}]}}, "schema": []}
{"input": "The 2 most frequent human MLL hematopoietic malignancies involve either AF4 or AF9 as fusion partners; each has distinct biology but the role of the fusion partner is not clear.", "output": {"entities": {"gene": [{"text": "AF4", "start": 72, "end": 75}], "disease": [{"text": "hematopoietic malignancies", "start": 30, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Tumor suppressor microRNA-31 inhibits gastric carcinogenesis by targeting Smad4 and SGPP2.", "output": {"entities": {"gene": [{"text": "SGPP2", "start": 84, "end": 89}], "disease": [{"text": "carcinogenesis", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the aim of the present study was to analyze different single nucleotide polymorphisms (SNPs) in order to test the possibility that genetic variation in NPY or three of its receptor genes (NPY1R, NPY2R, and NPY5R) may explain some of the variation in AO of HD motor manifestations, in a comprehensive cohort of 487 German HD patients.", "output": {"entities": {"gene": [{"text": "NPY", "start": 163, "end": 166}], "disease": [{"text": "motor manifestations", "start": 270, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to determine whether parathyroidectomy (PTx) would modify hypertension secondary to adrenocorticotrophin (ACTH) administration.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 132, "end": 136}], "disease": [{"text": "hypertension secondary", "start": 84, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Two haplotype-tagging SNPs in IGF1, rs1520220 and rs2946834, showed a strong association with mammographic density.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 30, "end": 34}], "disease": [{"text": "mammographic density", "start": 94, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of noggin in esophageal cancer cell line EC109, which expresses BMP6 strongly and SOST weakly, enhanced the non-adherent growth of the cells.", "output": {"entities": {"gene": [{"text": "BMP6", "start": 74, "end": 78}], "disease": [{"text": "esophageal cancer", "start": 23, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The application of the test to the molecular analysis of a new patient with familial HDL-deficiency (Tangier disease) led to a discovery of two novel ABCA1 mutations: C2665del and C4457T.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 150, "end": 155}], "disease": [{"text": "Tangier disease", "start": 101, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA1", "start": 150, "end": 155}, "tail": {"text": "Tangier disease", "start": 101, "end": 116}}]}}, "schema": []}
{"input": "The genome types of B19 from the fetuses and leukemia patients were similar to the types from patients with aplastic crisis and an asymptomatic individual.", "output": {"entities": {"gene": [{"text": "B19", "start": 20, "end": 23}], "disease": [{"text": "asymptomatic", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The increased expression of receptors for IL-12 in granulomatous diseases such as pulmonary tuberculosis and sarcoidosis provides evidence supporting the commitment of lymphocytes to a Th1-type cytokine profile in vivo.", "output": {"entities": {"gene": [{"text": "Th1", "start": 185, "end": 188}], "disease": [{"text": "sarcoidosis", "start": 109, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "It appears unlikely the R4/5 genotype plays a major role in the pathogenesis of CAD, as it was not associated with stenosis and atherosclerosis in RCA and LCX.", "output": {"entities": {"gene": [{"text": "LCX", "start": 155, "end": 158}], "disease": [{"text": "atherosclerosis", "start": 128, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The transcriptional activity of deletional mutants of 2. 5 kilobases of the 5'-flanking regulatory region of the rat P450scc gene cloned into a luciferase reporter gene was assessed in mouse adrenocortical Y-1, mouse Leydig MA-10, rat C6 glioma, rat GC somatotrope, and mouse GT1-7 neurosecretory cell lines.", "output": {"entities": {"gene": [{"text": "GT1", "start": 276, "end": 279}], "disease": [{"text": "glioma", "start": 238, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "This is the first report describing a PAX6 gene mutation in aniridia cases from India and highlights the variable expressivity in phenotypes due to haploinsufficiency.", "output": {"entities": {"gene": [{"text": "PAX6 gene", "start": 38, "end": 47}], "disease": [{"text": "variable expressivity", "start": 105, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.", "output": {"entities": {"gene": [{"text": "PRDM5", "start": 13, "end": 18}], "disease": [{"text": "brittle cornea syndrome", "start": 22, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRDM5", "start": 13, "end": 18}, "tail": {"text": "brittle cornea syndrome", "start": 22, "end": 45}}]}}, "schema": []}
{"input": "Pituitary insufficiency other than isolated diabetes insipidus is a rare finding of HPE, and occurs most frequently in patients with GLI2 mutations (the phenotype of which typically does not include frank neuroanatomic anomalies such as HPE); ours is the only described patient with a ZIC2 mutation and both anterior and posterior pituitary dysfunction.", "output": {"entities": {"gene": [{"text": "GLI2", "start": 133, "end": 137}], "disease": [{"text": "diabetes insipidus", "start": 44, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In vivo, JQ1 abrogated experimental renal inflammation in murine models of unilateral ureteral obstruction, antimembrane basal GN, and infusion of Angiotensin II.", "output": {"entities": {"gene": [{"text": "Angiotensin II", "start": 147, "end": 161}], "disease": [{"text": "inflammation", "start": 42, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angiotensin II", "start": 147, "end": 161}, "tail": {"text": "inflammation", "start": 42, "end": 54}}]}}, "schema": []}
{"input": "This study challenges the paradigm of exclusive PLP responsiveness in patients with pyridoxal 5'-phosphate oxidase deficiency and underlines the importance of consecutive testing of pyridoxine and PLP in neonates with antiepileptic drug-resistant seizures.", "output": {"entities": {"gene": [{"text": "PLP", "start": 48, "end": 51}], "disease": [{"text": "seizures", "start": 247, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Impact of smoking on lung cancer risk is stronger in those with the homozygous aldehyde dehydrogenase 2 null allele in a Japanese population.", "output": {"entities": {"gene": [{"text": "aldehyde dehydrogenase 2", "start": 79, "end": 103}], "disease": [{"text": "smoking", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The most effective approach in this study used the Grp78 promoter in glucose-starvation stress conditions.", "output": {"entities": {"gene": [{"text": "Grp78", "start": 51, "end": 56}], "disease": [{"text": "starvation", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We investigated the involvement of RFK in cisplatin resistance using human prostate cancer PC3 cells.", "output": {"entities": {"gene": [{"text": "RFK", "start": 35, "end": 38}], "disease": [{"text": "prostate cancer", "start": 75, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RFK", "start": 35, "end": 38}, "tail": {"text": "prostate cancer", "start": 75, "end": 90}}]}}, "schema": []}
{"input": "Two consanguineous families with complicated autosomal recessive hereditary spastic paraplegia were clinically characterized and genetically mapped to a new locus on 8p12-p11. 21.", "output": {"entities": {"gene": [{"text": "p11", "start": 171, "end": 174}], "disease": [{"text": "autosomal recessive hereditary spastic paraplegia", "start": 45, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Thus, while induction of cardiac hypertrophy is a multifaceted process, inhibition of Shp2 activity through AKAP-Lbc-anchored PKA is a previously unrecognized mechanism that may promote compensatory cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "AKAP-Lbc", "start": 108, "end": 116}], "disease": [{"text": "cardiac hypertrophy", "start": 25, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Transactivation response DNA-binding protein 43 (TDP-43) proteinopathies are classified based upon the extent of modified TDP-43 and include a growing number of neurodegenerative diseases such as amyotrophic lateral sclerosis, frontotemporal lobar degeneration with ubiquitin-immunoreactive, tau-negative inclusions and frontotemporal lobar degeneration with motor neuron disease.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 25, "end": 44}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 196, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "300 min after the proinflammatory insult, plasma concentrations of IL-1β and IL-6 in the plasma remain considerably lower after CLI compared to endotoxemia.", "output": {"entities": {"gene": [{"text": "CLI", "start": 128, "end": 131}], "disease": [{"text": "endotoxemia", "start": 144, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The COX-2 selective inhibitor-independent COX-2 effect on colon carcinoma cells is associated with the Delta1/Notch1 pathway.", "output": {"entities": {"gene": [{"text": "Delta1", "start": 103, "end": 109}], "disease": [{"text": "colon carcinoma", "start": 58, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "A majority of the PCR-negative cases (75%) contained an IGH/BCL2 translocation with FISH methods, suggesting the presence of other BCL2 breakpoints.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 60, "end": 64}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Mucolipidosis (ML) II alpha/beta and III alpha/beta are autosomal recessive diseases caused by a deficiency of alpha and/or beta subunits of the enzyme N-acetylglucosamine-1-phosphotransferase, which is encoded by the GNPTAB gene.", "output": {"entities": {"gene": [{"text": "GNPTAB", "start": 218, "end": 224}], "disease": [{"text": "ML) II alpha/beta", "start": 15, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNPTAB", "start": 218, "end": 224}, "tail": {"text": "ML) II alpha/beta", "start": 15, "end": 32}}]}}, "schema": []}
{"input": "The levels of serum IgG to CK19 were significantly higher in the TDI asthma group than in groups 2 and 3 (P =. 008).", "output": {"entities": {"gene": [{"text": "CK19", "start": 27, "end": 31}], "disease": [{"text": "asthma", "start": 69, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CK19", "start": 27, "end": 31}, "tail": {"text": "asthma", "start": 69, "end": 75}}]}}, "schema": []}
{"input": "Ucn2 has marked and beneficial hemodynamic, hormonal, and renal effects in experimental HF.", "output": {"entities": {"gene": [{"text": "Ucn2", "start": 0, "end": 4}], "disease": [{"text": "HF", "start": 88, "end": 90}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Ucn2", "start": 0, "end": 4}, "tail": {"text": "HF", "start": 88, "end": 90}}]}}, "schema": []}
{"input": "Three novel RUNX1 translocation partner genes on 1q21. 2 (ZNF687), 1p35 (YTHDF2), and 4q31. 3 (SH3D19) were identified using a panhandle polymerase chain reaction and the 3' rapid amplification of cDNA ends method.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 12, "end": 17}], "disease": [{"text": "translocation", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) involving down-regulation of E-cadherin is known to play an important role in tumour progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumour progression", "start": 118, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical evaluation of p16 and p53 expression aids in the differential diagnosis of squamous cell alterations of the vulva.", "output": {"entities": {"gene": [{"text": "p16", "start": 34, "end": 37}], "disease": [{"text": "aids", "start": 57, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Dysfunction of Paneth and goblet cells in the intestine contributes to inflammatory bowel disease (IBD) and colitis-associated colorectal cancer (CAC).", "output": {"entities": {"gene": [{"text": "CAC", "start": 146, "end": 149}], "disease": [{"text": "bowel disease", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We conclude that HDAC4 haploinsufficiency is responsible for psychomotor and behavioural abnormalities in combination with the BDMR syndrome-specific facial dysmorphism pattern and that these clinical features have a central diagnostic relevance.", "output": {"entities": {"gene": [{"text": "HDAC4", "start": 17, "end": 22}], "disease": [{"text": "BDMR", "start": 127, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HDAC4", "start": 17, "end": 22}, "tail": {"text": "BDMR", "start": 127, "end": 131}}]}}, "schema": []}
{"input": "DHFR and RFC1 expression was lower in initial osteosarcoma biopsy specimens than in metastases (P =. 024 and P =. 041, respectively).", "output": {"entities": {"gene": [{"text": "DHFR", "start": 0, "end": 4}], "disease": [{"text": "metastases", "start": 84, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DHFR", "start": 0, "end": 4}, "tail": {"text": "metastases", "start": 84, "end": 94}}]}}, "schema": []}
{"input": "Expression of miR-301a-3p was measured by qRT-PCR in tumor tissue samples from 111 patients with primary breast carcinoma and in mammospheres representing in vitro model of cancer stem-like cells.", "output": {"entities": {"gene": [{"text": "miR-301a", "start": 14, "end": 22}], "disease": [{"text": "breast carcinoma", "start": 105, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-301a", "start": 14, "end": 22}, "tail": {"text": "breast carcinoma", "start": 105, "end": 121}}]}}, "schema": []}
{"input": "FLG mutations may predispose to skin disease in young children including urticaria, and rash not recognized as atopic dermatitis although equally frequent.", "output": {"entities": {"gene": [{"text": "FLG", "start": 0, "end": 3}], "disease": [{"text": "rash", "start": 88, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Our data imply that urinary Smad1 might be a representative diagnostic marker for mesangial matrix expansion in diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 28, "end": 33}], "disease": [{"text": "diabetic nephropathy", "start": 112, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We used Reverse Transcription-Polymerase Chain Reaction (RT-PCR) and immunohistochemical analysis to detect the expression of DC-LAMP and DC-SIGN in 33 samples representing plaque lesions of psoriasis vulgaris and 11 normal skin samples from healthy volunteers.", "output": {"entities": {"gene": [{"text": "DC-SIGN", "start": 138, "end": 145}], "disease": [{"text": "plaque", "start": 173, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "As type 2 diabetes does not alter sKlotho levels, sKlotho does not seem to play a major role in the pathogenesis of MVD in type 2 diabetes.", "output": {"entities": {"gene": [{"text": "MVD", "start": 116, "end": 119}], "disease": [{"text": "type 2 diabetes", "start": 3, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Thus, we implicated a specific gene on chromosome 6 in the etiology of melanoma metastasis and identified potential up-stream regulators of KISS1 and TXNIP.", "output": {"entities": {"gene": [{"text": "TXNIP", "start": 150, "end": 155}], "disease": [{"text": "melanoma", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetic and molecular studies in the patient and her parents showed a de novo translocation 46, X, t (X; 15) (q27. 1; p11. 2) in the patient, indicating a possible break near the factor IX gene.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 183, "end": 192}], "disease": [{"text": "translocation", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "They include the calcium sensor gene visinin-like 1 (VSNL1) and the ionotropic AMPA glutamate receptor subunit (GRIA2), which were found to be down-regulated in the same cortical tissue from the schizophrenia group.", "output": {"entities": {"gene": [{"text": "GRIA2", "start": 112, "end": 117}], "disease": [{"text": "schizophrenia", "start": 195, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIA2", "start": 112, "end": 117}, "tail": {"text": "schizophrenia", "start": 195, "end": 208}}]}}, "schema": []}
{"input": "CMV vector and VACM-1 cDNA stably transfected T47D breast cancer-derived cells were treated with resveratrol and cell growth and VACM-1 protein concentrations were measured.", "output": {"entities": {"gene": [{"text": "VACM-1", "start": 15, "end": 21}], "disease": [{"text": "breast cancer", "start": 51, "end": 64}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "VACM-1", "start": 15, "end": 21}, "tail": {"text": "breast cancer", "start": 51, "end": 64}}]}}, "schema": []}
{"input": "All patients underwent laboratory investigations including: red cell count, hemoglobin, white cell count, platelets, bilirubin, alanine aminotransferase (ALT), aspartate aminotransferase (AST), and viremia.", "output": {"entities": {"gene": [{"text": "AST", "start": 188, "end": 191}], "disease": [{"text": "hemoglobin", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The cost-effectiveness of using MRI and mammography in combination to screen for breast cancer in BRCA1/2 mutation carriers is finely balanced.", "output": {"entities": {"gene": [{"text": "MRI", "start": 32, "end": 35}], "disease": [{"text": "breast cancer", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We propose that BTG3-dependent CHK1 ubiquitination contributes to its chromatin localization and activation and that a defect in this regulation may increase genome instability and promote tumorigenesis.", "output": {"entities": {"gene": [{"text": "BTG3", "start": 16, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 189, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "The sudden death of MCAP patients was previously attributed to CTH, convulsion, or arrhythmia.", "output": {"entities": {"gene": [{"text": "CTH", "start": 63, "end": 66}], "disease": [{"text": "sudden death", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Using linear and stepwise regression procedures, we found that those with PHI demonstrated a greater degree of cognitive decline overall during the years following recovery from injury compared with a control group of uninjured Vietnam veterans.", "output": {"entities": {"gene": [{"text": "PHI", "start": 74, "end": 77}], "disease": [{"text": "regression", "start": 26, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.", "output": {"entities": {"gene": [{"text": "DNAJC19", "start": 30, "end": 37}], "disease": [{"text": "anemia", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Moyamoya disease (MMD) is a cerebrovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches.", "output": {"entities": {"gene": [{"text": "MMD", "start": 18, "end": 21}], "disease": [{"text": "cerebrovascular disease", "start": 28, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We enrolled seventy-five glioblastoma patients that had presented with enlarged contrast-enhanced lesions on magnetic resonance imaging (MRI) one month after completing concurrent chemoradiotherapy and undergoing MGMT promoter methylation testing.", "output": {"entities": {"gene": [{"text": "MRI", "start": 137, "end": 140}], "disease": [{"text": "glioblastoma", "start": 25, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that gene therapy with CFTR would improve the pulmonary hypoplasia associated with congenital diaphragmatic hernia (CDH).", "output": {"entities": {"gene": [{"text": "CFTR", "start": 39, "end": 43}], "disease": [{"text": "diaphragmatic hernia", "start": 110, "end": 130}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CFTR", "start": 39, "end": 43}, "tail": {"text": "diaphragmatic hernia", "start": 110, "end": 130}}]}}, "schema": []}
{"input": "Despite sequence comparisons that predict that SET1 family enzymes should only monomethylate their substrates, mono-, di-, and trimethylation of H3K4 has been attributed to SET1 family complexes in vivo and in vitro.", "output": {"entities": {"gene": [{"text": "SET1", "start": 47, "end": 51}], "disease": [{"text": "mono", "start": 79, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation, low serum iron, normal-high serum ferritin, and increased hepcidin.", "output": {"entities": {"gene": [{"text": "hepcidin", "start": 230, "end": 238}], "disease": [{"text": "hypochromic microcytic anemia", "start": 113, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Mfn2 protein over-expression, mediated by an adenovirus, has a significant anti-proliferative effect in hepatoma carcinoma cells.", "output": {"entities": {"gene": [{"text": "Mfn2", "start": 0, "end": 4}], "disease": [{"text": "adenovirus", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Increases in airway eosinophilia and a th1 cytokine during the chronic asymptomatic phase of asthma.", "output": {"entities": {"gene": [{"text": "th1", "start": 39, "end": 42}], "disease": [{"text": "asthma", "start": 93, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We systematically examined the role of CD97 and its closest relative, EMR2, in normal and malignant gastric, esophageal, and pancreatic tissue.", "output": {"entities": {"gene": [{"text": "CD97", "start": 39, "end": 43}], "disease": [{"text": "esophageal", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In subcutaneous xenograft models of human cancer, administration of RNase1 but not DNase decreased tumor volume and weight.", "output": {"entities": {"gene": [{"text": "RNase1", "start": 68, "end": 74}], "disease": [{"text": "weight", "start": 116, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The entire coding region of the RNF213 gene was sequenced in 204 patients with MMD, and corresponding variants were checked in 62 pairs of parents, 13 mothers and 4 fathers of the patients, and 283 normal controls. Clinical information was collected.", "output": {"entities": {"gene": [{"text": "RNF213", "start": 32, "end": 38}], "disease": [{"text": "MMD", "start": 79, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RNF213", "start": 32, "end": 38}, "tail": {"text": "MMD", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia.", "output": {"entities": {"gene": [{"text": "FLNB", "start": 45, "end": 49}], "disease": [{"text": "boomerang dysplasia", "start": 84, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLNB", "start": 45, "end": 49}, "tail": {"text": "boomerang dysplasia", "start": 84, "end": 103}}]}}, "schema": []}
{"input": "She was not suspected of having T2 deficiency during her childhood, but she was diagnosed as T2 deficient at the age of 25 years by enzyme assay using fibroblasts.", "output": {"entities": {"gene": [{"text": "T2", "start": 32, "end": 34}], "disease": [{"text": "T2 deficiency", "start": 32, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "T2", "start": 32, "end": 34}, "tail": {"text": "T2 deficiency", "start": 32, "end": 45}}]}}, "schema": []}
{"input": "On the other hand, mutations were identified in genes linked to other ophthalmic phenotypes, some inclusive of glaucoma, highlighting conditions that might phenotypically overlap with primary congenital glaucoma (SLC4A4, SLC4A11, CPAMD8, and KERA).", "output": {"entities": {"gene": [{"text": "CPAMD8", "start": 230, "end": 236}], "disease": [{"text": "glaucoma", "start": 111, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CPAMD8", "start": 230, "end": 236}, "tail": {"text": "glaucoma", "start": 111, "end": 119}}]}}, "schema": []}
{"input": "More importantly, IL-21-secreting GL D2-60 cells or 1 microg of rIL-21 protein stereotactically injected into established GL D2-60 tumors were able to trigger glioblastoma rejection in 90 and 77% of mice, respectively.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 18, "end": 23}], "disease": [{"text": "glioblastoma", "start": 159, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In order to investigate the validity of these results and to estimate how broadly applicable they are, we performed a linkage study between bipolar affective disorder and two DNA markers (D21S171 and PFKL) from 21q22. 3 using 60 bipolar pedigrees from three European centres and Brazil.", "output": {"entities": {"gene": [{"text": "PFKL", "start": 200, "end": 204}], "disease": [{"text": "bipolar affective disorder", "start": 140, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PFKL", "start": 200, "end": 204}, "tail": {"text": "bipolar affective disorder", "start": 140, "end": 166}}]}}, "schema": []}
{"input": "The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date.", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 26, "end": 31}], "disease": [{"text": "JPS", "start": 76, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMAD4", "start": 26, "end": 31}, "tail": {"text": "JPS", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "These results support the idea that Cdk5 activity is involved in altered gene expression after chronic exposure to cocaine and hence impacts the long-lasting changes in neuronal function underlying cocaine addiction.", "output": {"entities": {"gene": [{"text": "Cdk5", "start": 36, "end": 40}], "disease": [{"text": "cocaine addiction", "start": 198, "end": 215}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cdk5", "start": 36, "end": 40}, "tail": {"text": "cocaine addiction", "start": 198, "end": 215}}]}}, "schema": []}
{"input": "Polymerase chain reaction analysis with T-cell receptor γ-chain gene rearrangement (TCR-γR) was performed on the original lymph node and new skin lesions.", "output": {"entities": {"gene": [{"text": "T-cell receptor γ-chain gene", "start": 40, "end": 68}], "disease": [{"text": "skin lesions", "start": 141, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "However, malignant gliomas express high levels of VEGF in both hypoxic perinecrotic and vital tumor areas.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 50, "end": 54}], "disease": [{"text": "hypoxic", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Significant associations were found for: LPL genetic polymorphic variant and abdominal obesity (p = 0. 013), APO epsilon4 allele and hypercholesterolemia (p = 0. 003), and ESR1-TA long allele and hypercholesterolemia (p = 0. 011).", "output": {"entities": {"gene": [{"text": "ESR1", "start": 172, "end": 176}], "disease": [{"text": "abdominal obesity", "start": 77, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "A glycogen synthase kinase 3-beta promoter gene single nucleotide polymorphism is associated with age at onset and response to total sleep deprivation in bipolar depression.", "output": {"entities": {"gene": [{"text": "glycogen synthase kinase 3-beta", "start": 2, "end": 33}], "disease": [{"text": "sleep deprivation", "start": 133, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "However, in an in vitro inflammasome activity assay with PBMC, IL-1 & #946; protein secretion and the IL-1 & #946;/IL-1Ra protein ratio were similar in MS patients and HC.", "output": {"entities": {"gene": [{"text": "IL-1", "start": 63, "end": 67}], "disease": [{"text": "MS", "start": 152, "end": 154}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-1", "start": 63, "end": 67}, "tail": {"text": "MS", "start": 152, "end": 154}}]}}, "schema": []}
{"input": "Sonic hedgehog might play a pivotal role during tumorigenesis of pancreatic adenocarcinoma, and high Shh expression might be associated with the malignant potential of pancreatic cancer.", "output": {"entities": {"gene": [{"text": "Sonic hedgehog", "start": 0, "end": 14}], "disease": [{"text": "tumorigenesis", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Our results suggested that Tiam1 signaling contributed to the invasion and metastasis of the human giant-cell lung carcinoma cells.", "output": {"entities": {"gene": [{"text": "Tiam1", "start": 27, "end": 32}], "disease": [{"text": "giant", "start": 99, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The results described here demonstrate that transcriptional up-regulation of the INSR locus is correlated with the t (1; 19) translocation found in human pre-B ALL cell line 697.", "output": {"entities": {"gene": [{"text": "INSR", "start": 81, "end": 85}], "disease": [{"text": "translocation", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "These lesions include hyperplastic-type aberrant crypt foci, hyperplastic polyps, sessile serrated adenomas, admixed polyps and serrated adenomas, and constitute the so-called' serrated pathway', which is distinct from both the conventional adenoma-carcinoma pathway and the mutator pathway of hereditary non-polyposis CRC and is characterized by early involvement of oncogenic BRAF mutations, excess CpG island methylation (CIM) and subsequent low-or high-level DNA microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "BRAF", "start": 378, "end": 382}], "disease": [{"text": "aberrant crypt foci", "start": 40, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere' s disease.", "output": {"entities": {"gene": [{"text": "FAM136A", "start": 41, "end": 48}], "disease": [{"text": "Meniere' s disease", "start": 95, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FAM136A", "start": 41, "end": 48}, "tail": {"text": "Meniere' s disease", "start": 95, "end": 113}}]}}, "schema": []}
{"input": "SNORD50A and SNORD50B snoRNAs thus directly bind and inhibit K-Ras and are recurrently deleted in human cancer.", "output": {"entities": {"gene": [{"text": "SNORD50A", "start": 0, "end": 8}], "disease": [{"text": "cancer", "start": 104, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SNORD50A", "start": 0, "end": 8}, "tail": {"text": "cancer", "start": 104, "end": 110}}]}}, "schema": []}
{"input": "To date, mutations in COG1, COG4, COG7 and COG8 genes have been associated with diseases, which range from severe multi-organ disorders to moderate forms of neurological impairment.", "output": {"entities": {"gene": [{"text": "COG1", "start": 22, "end": 26}], "disease": [{"text": "neurological impairment", "start": 157, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD.", "output": {"entities": {"gene": [{"text": "CENPJ", "start": 71, "end": 76}], "disease": [{"text": "Seckel syndrome", "start": 89, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CENPJ", "start": 71, "end": 76}, "tail": {"text": "Seckel syndrome", "start": 89, "end": 104}}]}}, "schema": []}
{"input": "Inhibition of spinal CRTC1 expression reduced bone cancer pain.", "output": {"entities": {"gene": [{"text": "CRTC1", "start": 21, "end": 26}], "disease": [{"text": "cancer pain", "start": 51, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Total IRP binding to an iron responsive element (IRE) mRNA probe was increased several fold by hypoxia in HEK 293 cells, maximally at 4-8 h. An earlier and more modest increase (1. 5-to 2-fold, peaking at 2 h and then declining) was seen in HepG2 cells.", "output": {"entities": {"gene": [{"text": "IRP", "start": 6, "end": 9}], "disease": [{"text": "hypoxia", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.", "output": {"entities": {"gene": [{"text": "PPOX", "start": 49, "end": 53}], "disease": [{"text": "porphyria, variegate", "start": 64, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PPOX", "start": 49, "end": 53}, "tail": {"text": "porphyria, variegate", "start": 64, "end": 84}}]}}, "schema": []}
{"input": "These data represent the first experimental evidence about a nonredundant role of the FGF/FGFR system in the modulation of the EMT process in melanoma and indicate that PTX3 or its derivatives may represent the basis for the design of novel therapeutic approaches in FGF/FGFR-dependent tumors, including melanoma.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 169, "end": 173}], "disease": [{"text": "melanoma", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "These mutations did not occur in three other unrelated MPS VI patients or in 120 ASB alleles from normal individuals, indicating that they were not polymorphisms.", "output": {"entities": {"gene": [{"text": "ASB", "start": 81, "end": 84}], "disease": [{"text": "MPS VI", "start": 55, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASB", "start": 81, "end": 84}, "tail": {"text": "MPS VI", "start": 55, "end": 61}}]}}, "schema": []}
{"input": "The expression of PSAT1 in 64 surgical resections from esophageal carcinogenesis patients was examined by quantitative RT-PCR and immunohistochemistry and the results were compared with clinicopathological factors.", "output": {"entities": {"gene": [{"text": "PSAT1", "start": 18, "end": 23}], "disease": [{"text": "esophageal", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "AAO and the GFAP mutation site are important clinical predictors in AxD, with clear correlations to defined patterns of phenotypic expression.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 12, "end": 16}], "disease": [{"text": "AxD", "start": 68, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 12, "end": 16}, "tail": {"text": "AxD", "start": 68, "end": 71}}]}}, "schema": []}
{"input": "Anti-IL-6 antibody added to HOBIT or POB CM dose-dependently inhibited the CM-induced cell proliferation and PSA expression in these CaP cell lines.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 5, "end": 9}], "disease": [{"text": "CaP", "start": 133, "end": 136}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-6", "start": 5, "end": 9}, "tail": {"text": "CaP", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "Mutations in any of the three known causative genes, TGM1, ALOXE3 or ALOX12B, can lead either to NBCIE or LI.", "output": {"entities": {"gene": [{"text": "ALOXE3", "start": 59, "end": 65}], "disease": [{"text": "NBCIE", "start": 97, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALOXE3", "start": 59, "end": 65}, "tail": {"text": "NBCIE", "start": 97, "end": 102}}]}}, "schema": []}
{"input": "Drug treatments targeting CTGF, TNFR1, and IκB signaling each prohibited the EMT and tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 77, "end": 80}], "disease": [{"text": "tumor progression", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Clonal immunoglobulin gene rearrangement was detected in 97% of PFL cases, but fluorescence in situ hybridization analysis showed an absence of the BCL2/IGH @translocation in all cases tested.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 148, "end": 152}], "disease": [{"text": "translocation", "start": 158, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Expression levels of TNF-α, IFN-γ in the hyperplasia group have a positive correlation to bone loss, whereas expression levels of TGF-β, IL-4 in the necrosis group have a positive correlation to the bone formation.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 130, "end": 135}], "disease": [{"text": "necrosis", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.", "output": {"entities": {"gene": [{"text": "SOST", "start": 53, "end": 57}], "disease": [{"text": "van Buchem disease", "start": 80, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOST", "start": 53, "end": 57}, "tail": {"text": "van Buchem disease", "start": 80, "end": 98}}]}}, "schema": []}
{"input": "CD163 (+) TAMs in oral premalignant lesions coexpress CD163 and STAT1, suggesting that the TAMs in oral premalignant lesions possess an M1 phenotype in a Th1-dominated micromilieu.", "output": {"entities": {"gene": [{"text": "CD163", "start": 0, "end": 5}], "disease": [{"text": "premalignant", "start": 23, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "This study aimed at investigating the roles of the 5-HT (1B) R, and its adapter protein p11, in emotional memory and object recognition memory processes by the use of p11 knockout (p11KO) mice, a genetic model for aspects of depression-related states.", "output": {"entities": {"gene": [{"text": "5-HT (1B) R", "start": 51, "end": 62}], "disease": [{"text": "depression", "start": 225, "end": 235}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (1B) R", "start": 51, "end": 62}, "tail": {"text": "depression", "start": 225, "end": 235}}]}}, "schema": []}
{"input": "We have hypothesized that the extracellular matrix protein reelin is involved in the pathogenesis of major depression.", "output": {"entities": {"gene": [{"text": "reelin", "start": 59, "end": 65}], "disease": [{"text": "major depression", "start": 101, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "reelin", "start": 59, "end": 65}, "tail": {"text": "major depression", "start": 101, "end": 117}}]}}, "schema": []}
{"input": "MRI and breast cancer: role in detection, diagnosis, and staging.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "breast cancer", "start": 8, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Intracellular cytokine staining for IFN-γ, IL-2, and TNF-α revealed mono-, dual-, as well as triple-positive CD8 (+) T cells, indicating these M. tuberculosis peptide-specific CD8 (+) T cells were (poly) functional.", "output": {"entities": {"gene": [{"text": "IFN", "start": 36, "end": 39}], "disease": [{"text": "mono", "start": 68, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "However, the mechanism underlying cardioprotection of Hsp20 and especially the role of its phosphorylation in regulating ischemia/reperfusion-induced autophagy, apoptosis, and necrosis remain to be clarified.", "output": {"entities": {"gene": [{"text": "Hsp20", "start": 54, "end": 59}], "disease": [{"text": "ischemia", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Disorders that disturb ubiquitin regulatory signaling include at least two subtypes of Fanconi anemia, the BRCA1 and BRCA2 forms of breast and ovarian cancer susceptibility, incontinentia pigmenti, and cylindromatosis.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 107, "end": 112}], "disease": [{"text": "incontinentia pigmenti", "start": 174, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and' mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.", "output": {"entities": {"gene": [{"text": "ABCC8", "start": 85, "end": 90}], "disease": [{"text": "abnormalities", "start": 196, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrate that a mutated type I procollagen gene based on the model of procollagen suicide can be used to produce a severe phenotype of osteogenesis imperfecta that is genetically transmitted.", "output": {"entities": {"gene": [{"text": "type I procollagen", "start": 39, "end": 57}], "disease": [{"text": "suicide", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Genotyping of Ser311Cys, the DRD2 intron 2 STR, and the Taq1A marker in 459 subjects, including 373 sib-pairs and 15 Cys311/Cys311 homozygous individuals, revealed no association to alcoholism, substance use disorders, or schizophrenia.", "output": {"entities": {"gene": [{"text": "STR", "start": 43, "end": 46}], "disease": [{"text": "substance use disorders", "start": 194, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetic analysis revealed a balanced translocation involving chromosomal band 21q22, which disrupts the RUNX1 gene, and 10q22, with the following karyotype: 45, X,-X, t (10; 21) (q24; q22) [cp16]/46, XX [4].", "output": {"entities": {"gene": [{"text": "RUNX1 gene", "start": 108, "end": 118}], "disease": [{"text": "translocation", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge, there has been no previous report of a de novo mutation described within the androgen receptor gene in patients with androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 95, "end": 112}], "disease": [{"text": "androgen insensitivity syndrome", "start": 135, "end": 166}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 95, "end": 112}, "tail": {"text": "androgen insensitivity syndrome", "start": 135, "end": 166}}]}}, "schema": []}
{"input": "In the present study, we investigated the effect and mechanisms of quinidine, a commonly used voltage-gated K + channel blocker, on cell proliferation and apoptosis of human glioma U87-MG cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 181, "end": 184}], "disease": [{"text": "glioma", "start": 174, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "The physiologic properties of the normal cellular prion protein (PrP (C)) have not been established fully, although recent evidence showed its upregulation in cerebral ischaemia.", "output": {"entities": {"gene": [{"text": "prion protein", "start": 50, "end": 63}], "disease": [{"text": "cerebral ischaemia", "start": 159, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, SNPs in SLC30A3 showed a gender-specific association with schizophrenia in this East UK cohort, which merits further investigation in other population samples.", "output": {"entities": {"gene": [{"text": "SLC30A3", "start": 23, "end": 30}], "disease": [{"text": "schizophrenia", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC30A3", "start": 23, "end": 30}, "tail": {"text": "schizophrenia", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "Using an ex vivo model of vascular calcification, γ-carboxylated GRP but not undercarboxylated GRP was shown to inhibit calcification and osteochondrogenic differentiation through α-smooth muscle actin upregulation and osteopontin downregulation.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 182, "end": 201}], "disease": [{"text": "vascular calcification", "start": 26, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that KIAA1377 and C5orf42 synergistically play a role as susceptibility genes for monomelic amyotrophy.", "output": {"entities": {"gene": [{"text": "C5orf42", "start": 37, "end": 44}], "disease": [{"text": "monomelic amyotrophy", "start": 101, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C5orf42", "start": 37, "end": 44}, "tail": {"text": "monomelic amyotrophy", "start": 101, "end": 121}}]}}, "schema": []}
{"input": "We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer' s or dementia.", "output": {"entities": {"gene": [{"text": "WWOX", "start": 110, "end": 114}], "disease": [{"text": "LOAD", "start": 23, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WWOX", "start": 110, "end": 114}, "tail": {"text": "LOAD", "start": 23, "end": 27}}]}}, "schema": []}
{"input": "GBA mutation status, APOE4 genotype, LB pathological findings (assessed according to the third report of the Dementia With Lewy Body Consortium), and Alzheimer plaque and tangle pathological findings (rated by criteria of Braak and Braak, the Consortium to Establish a Registry for Alzheimer Disease, and the National Institute on Aging-Reagan Institute).", "output": {"entities": {"gene": [{"text": "GBA", "start": 0, "end": 3}], "disease": [{"text": "plaque", "start": 160, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "We show that renal cyst formation is accompanied by a drastic defect in the transcriptional activation of Umod, Pkhd1 and Pkd2 genes, whose mutations are responsible for distinct cystic kidney syndromes.", "output": {"entities": {"gene": [{"text": "Umod", "start": 106, "end": 110}], "disease": [{"text": "renal cyst", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Cdkn1c encodes a potent negative regulator of fetal growth that also regulates placental development, consistent with a proposed role for CDKN1C in these complex childhood growth disorders.", "output": {"entities": {"gene": [{"text": "CDKN1C", "start": 138, "end": 144}], "disease": [{"text": "growth disorders", "start": 172, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "To evaluate interactions between expressions of tumor suppressor gene p53 and angiogenic factors vascular endothelial cell growth factor (VEGF) and interleukin-8 (IL-8) and their effect on tumor angiogenesis and patient prognosis in non--small-cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "endothelial cell growth factor", "start": 106, "end": 136}], "disease": [{"text": "tumor angiogenesis", "start": 189, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5).", "output": {"entities": {"gene": [{"text": "neurotrophin 4", "start": 540, "end": 554}], "disease": [{"text": "mental retardation", "start": 82, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neurotrophin 4", "start": 540, "end": 554}, "tail": {"text": "mental retardation", "start": 82, "end": 100}}]}}, "schema": []}
{"input": "To compare the circulating levels of matrix metalloproteinase (MMP)-2, MMP-9, tissue inhibitors of metalloproteinase (TIMP)-1, TIMP-2, and the MMP-9/TIMP-1 and MMP-2/TIMP-2 ratios in preeclampsia and gestational hypertension with those found in normotensive pregnancies.", "output": {"entities": {"gene": [{"text": "TIMP", "start": 118, "end": 122}], "disease": [{"text": "preeclampsia", "start": 183, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Here we show that podoplanin promotes tumorigenesis of oral squamous cell carcinoma (OSCC) and precancerous cells both in vitro and in vivo, and the ErbB3-binding protein-1 (Ebp1) can be activated in oral tumorigenesis and can serve as a transcriptional activator to drive podoplanin expression in the malignant progression.", "output": {"entities": {"gene": [{"text": "Ebp1", "start": 174, "end": 178}], "disease": [{"text": "squamous cell carcinoma", "start": 60, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In addition, we demonstrate that mCRP is generated on the surface of necrotic retinal pigment epithelial cells and that this newly formed mCRP colocalizes with the cell damage marker annexin V. Bound to the cell surface, Factor H-mCRP complexes allow complement inactivation and reduce the release of the proinflammatory cytokine TNF-α.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 183, "end": 192}], "disease": [{"text": "necrotic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The objective of the present study was to examine the potential impact of a T--> C substitution at codon Leu (338) of the type I (HSD3B1) 3 beta-HSD gene on obesity, circulating hormones, and estimates of insulin, glucose, and lipid metabolism as well as blood pressure in 284 unrelated Swedish men born in 1944.", "output": {"entities": {"gene": [{"text": "HSD3B1", "start": 130, "end": 136}], "disease": [{"text": "obesity", "start": 157, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "To investigate the mutations of SLC26A4 gene and the relevant phenotype in Chinese sporadic nonsyndromic hearing-impaired children.", "output": {"entities": {"gene": [{"text": "SLC26A4 gene", "start": 32, "end": 44}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that the SLF-derived MCP-1 plays a role in inner ear inflammation secondary to OM that is responsible for hearing loss and dizziness.", "output": {"entities": {"gene": [{"text": "SLF", "start": 25, "end": 28}], "disease": [{"text": "ear inflammation", "start": 65, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Exome-seq revealed intensive genomic instability in a cell line with MLH1 homozygous deletion, indicated by a dramatically elevated rate of somatic substitutions, small insertions/deletions (indels), as well as indels in microsatellites.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 69, "end": 73}], "disease": [{"text": "genomic instability", "start": 29, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that polymorphism of the DRD2 gene may be one genetic factor that affects body height in childhood, acting through the hypothalamus (GH-releasing hormone)--pituitary (GH)--IGF-I axis.", "output": {"entities": {"gene": [{"text": "DRD2 gene", "start": 49, "end": 58}], "disease": [{"text": "body height", "start": 98, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Importantly, among the transcripts regulated by NAP were key genes associated with proconvulsant properties and with long-lasting changes that underlie the epileptic state, including activin A receptor (associated with apoptosis), neurotensin (associated with proper neurotransmission) and the Wolfram syndrome 1 homolog (human, associated with neurodegeneration).", "output": {"entities": {"gene": [{"text": "NAP", "start": 48, "end": 51}], "disease": [{"text": "neurodegeneration", "start": 345, "end": 362}]}, "relations": {}}, "schema": []}
{"input": "Augmented EGFR signaling contributes to abnormalities of vascular tone and renal sodium handling as well as vascular remodeling and myocardial hypertrophy through various intracellular mechanisms, in particular extracellular signal-regulated kinases (ERK) and phosphoinositide 3-kinase (PI3K).", "output": {"entities": {"gene": [{"text": "ERK", "start": 251, "end": 254}], "disease": [{"text": "vascular remodeling", "start": 108, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Overall, the present study demonstrated that overexpression of the HGF gene attenuated brain ischemic injury in a rat model, without cerebral edema, through angiogenic and neuroprotective actions.", "output": {"entities": {"gene": [{"text": "HGF gene", "start": 67, "end": 75}], "disease": [{"text": "cerebral edema", "start": 133, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In vitro, serum starvation-refeeding experiment and SYF2-siRNA transfection assay demonstrated that the expression of SYF2 was promoted in the proliferative progression of EOC cells, while knockdown of SYF2 expression decreased and inhibited cell growth rate of EOC cells.", "output": {"entities": {"gene": [{"text": "SYF2", "start": 52, "end": 56}], "disease": [{"text": "starvation", "start": 16, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "In order to evaluate possible mechanisms mediating this, we investigated if the TGFB1 polymorphism was associated with the severity of mucositis induced by CRT.", "output": {"entities": {"gene": [{"text": "CRT", "start": 156, "end": 159}], "disease": [{"text": "mucositis", "start": 135, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "An IGF-I promoter polymorphism modifies the relationships between birth weight and risk factors for cardiovascular disease and diabetes at age 36.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 3, "end": 8}], "disease": [{"text": "birth weight", "start": 66, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We localized HSC70 to 11q23. 3, a region deleted in 40% of sporadic breast and other cancers.", "output": {"entities": {"gene": [{"text": "HSC70", "start": 13, "end": 18}], "disease": [{"text": "sporadic", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We tested the angiogenic potential of 9 cell lines of pancreatic ductal carcinoma origin by screening mRNA and protein expression of VEGF and bFGF and the release of VEGF into culture medium under normoxic and hypoxic (5% or 0. 2% O2) conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 133, "end": 137}], "disease": [{"text": "hypoxic", "start": 210, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "In leptin receptor-deficient obese Zucker rats, with 75% higher body weight than lean littermates, GALP mRNA levels in the ARC were decreased by 75%, while neuropeptide Y (NPY) mRNA levels were increased 7-fold (n = 5, p < 0. 001), consistent with earlier reports.", "output": {"entities": {"gene": [{"text": "NPY", "start": 172, "end": 175}], "disease": [{"text": "body weight", "start": 64, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, rhapontigenin reduced vascular endothelial growth factor (VEGF) secretion in hypoxic PC-3 cells as well as suppressed tube formation in human umbilical vein endothelial cells (HUVECs) treated by the conditioned media of hypoxic PC-3 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 71, "end": 75}], "disease": [{"text": "hypoxic", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "By suppressing the phosphoinositide 3-kinase (PI3K)-AKT-mammalian target of rapamycin (mTOR) pathway through its lipid phosphatase activity, PTEN governs a plethora of cellular processes including survival, proliferation, energy metabolism and cellular architecture.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 56, "end": 85}], "disease": [{"text": "plethora", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In the presence of lisinopril (ACE inhibitor), but not candoxatril (NEP inhibitor) or apstatin (APP inhibitor), bradykinin also elicited hypotension.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 112, "end": 122}], "disease": [{"text": "hypotension", "start": 137, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 112, "end": 122}, "tail": {"text": "hypotension", "start": 137, "end": 148}}]}}, "schema": []}
{"input": "The polycomb group genes Bmi1 polycomb ring finger oncogene (Bmi1) and enhancer of zeste homolog 2 (EZH2) function as transcriptional repressors involved in gene silencing and in the malignant transformation and biologic aggressiveness of several human carcinomas.", "output": {"entities": {"gene": [{"text": "Bmi1", "start": 25, "end": 29}], "disease": [{"text": "aggressiveness", "start": 221, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "cIAP-2 is an important regulator of apoptosis in bladder cancer and its overexpression may make tumours less susceptible to therapy involving apoptosis.", "output": {"entities": {"gene": [{"text": "cIAP-2", "start": 0, "end": 6}], "disease": [{"text": "bladder cancer", "start": 49, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cIAP-2", "start": 0, "end": 6}, "tail": {"text": "bladder cancer", "start": 49, "end": 63}}]}}, "schema": []}
{"input": "A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).", "output": {"entities": {"gene": [{"text": "proinsulin", "start": 69, "end": 79}], "disease": [{"text": "hyperproinsulinemia", "start": 64, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "proinsulin", "start": 69, "end": 79}, "tail": {"text": "hyperproinsulinemia", "start": 64, "end": 83}}]}}, "schema": []}
{"input": "The frequencies of stx2c, stx2d, and stx2e among 96 STEC isolates from asymptomatic subjects were comparable to those among isolates from patients with diarrhea.", "output": {"entities": {"gene": [{"text": "stx2c", "start": 19, "end": 24}], "disease": [{"text": "asymptomatic", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Although VEGF gene expression is mainly stimulated by hypoxia, we have measured lower VEGF levels in cerebrospinal fluid (CSF) from hypoxaemic patients with amyotrophic lateral sclerosis (ALS) than in CSF from normoxaemic patients with ALS.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 9, "end": 13}], "disease": [{"text": "hypoxia", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The intracellular localization of the Wilson disease gene product, ATP7B, was recently identified as the late endosomes.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 67, "end": 72}], "disease": [{"text": "Wilson disease", "start": 38, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 67, "end": 72}, "tail": {"text": "Wilson disease", "start": 38, "end": 52}}]}}, "schema": []}
{"input": "Simvastatin inhibited NOR-1 expression induced by LDL in VSMC and by hypercholesterolemia in the abdominal aorta of hyperlipemic pigs.", "output": {"entities": {"gene": [{"text": "NOR-1", "start": 22, "end": 27}], "disease": [{"text": "hypercholesterolemia", "start": 69, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOR-1", "start": 22, "end": 27}, "tail": {"text": "hypercholesterolemia", "start": 69, "end": 89}}]}}, "schema": []}
{"input": "FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.", "output": {"entities": {"gene": [{"text": "FAM92A", "start": 0, "end": 6}], "disease": [{"text": "Postaxial Polydactyly", "start": 30, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FAM92A", "start": 0, "end": 6}, "tail": {"text": "Postaxial Polydactyly", "start": 30, "end": 51}}]}}, "schema": []}
{"input": "Cell culture experiments using CHO-HIRc-myc-GLUT4eGFP cell lines stably expressing insulin receptor and myc-GLUT4eGFP protein, as well as L6 skeletal muscle cells stably expressing rat GLUT4 with a Myc epitope (L6-GLUT4myc), showed that NO, nitrite, and GSNO stimulate GLUT4 translocation independent of insulin, which is inhibited by NEM.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 83, "end": 99}], "disease": [{"text": "translocation", "start": 275, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "Thus, GPIbalpha contributes to arterial thrombosis by important adhesion mechanisms independent of the binding to VWF.", "output": {"entities": {"gene": [{"text": "GPIbalpha", "start": 6, "end": 15}], "disease": [{"text": "adhesion", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we examined RAR and RXR subtypes in DCIS (58 cases), atypical ductal hyperplasia (ADH) (32 cases), and proliferative disease without atypia (PDWA) (32 cases) to study the status of these RARs and RXRs.", "output": {"entities": {"gene": [{"text": "RAR", "start": 23, "end": 26}], "disease": [{"text": "atypical ductal hyperplasia", "start": 64, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Increased levels of copper efflux transporter ATP7B are associated with poor outcome in colorectal cancer patients receiving oxaliplatin-based chemotherapy.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 46, "end": 51}], "disease": [{"text": "colorectal cancer", "start": 88, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATP7B", "start": 46, "end": 51}, "tail": {"text": "colorectal cancer", "start": 88, "end": 105}}]}}, "schema": []}
{"input": "N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.", "output": {"entities": {"gene": [{"text": "N-acetylgalactosamine-4-sulfatase", "start": 0, "end": 33}], "disease": [{"text": "mucopolysaccharidosis type VI", "start": 118, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "N-acetylgalactosamine-4-sulfatase", "start": 0, "end": 33}, "tail": {"text": "mucopolysaccharidosis type VI", "start": 118, "end": 147}}]}}, "schema": []}
{"input": "The expression levels of miR-199a in 11 pairs of matched HCC neoplastic and adjacent non-neoplastic tissues, 5 HCC cell lines and liver cell line L02 were examined by quantitative real-time PCR analysis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 57, "end": 60}], "disease": [{"text": "non-neoplastic", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We report three novel mutations of the PRNP gene in unrelated patients with clinical and histopathologic features of CJD.", "output": {"entities": {"gene": [{"text": "PRNP", "start": 39, "end": 43}], "disease": [{"text": "CJD", "start": 117, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRNP", "start": 39, "end": 43}, "tail": {"text": "CJD", "start": 117, "end": 120}}]}}, "schema": []}
{"input": "Immunophenotype of desmoplastic small round cell tumors as detected in cases with EWS-WT1 gene fusion product.", "output": {"entities": {"gene": [{"text": "WT1 gene", "start": 86, "end": 94}], "disease": [{"text": "desmoplastic", "start": 19, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "EGF induced rapid phosphorylation of c-Src and PKCdelta and concomitant translocation of PKCdelta as well as SphK1 to the plasma membrane.", "output": {"entities": {"gene": [{"text": "SphK1", "start": 109, "end": 114}], "disease": [{"text": "translocation", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We identified 25 genes, including hypoxia-related genes (e. g., MIF, SCD1, P4HA1, ENO1, and STAT1) and cell cycle-and DNA repair-related genes (e. g., TACC3, PRDX1, PRKDC, and H2AFY).", "output": {"entities": {"gene": [{"text": "STAT1", "start": 92, "end": 97}], "disease": [{"text": "hypoxia", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "eEF2K is also regulated by a plethora of other inputs, including inhibition by signalling downstream of anabolic signalling pathways such as the mammalian target of rapamycin complex 1.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 145, "end": 174}], "disease": [{"text": "plethora", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collectively represent leading causes of hereditary blindness.", "output": {"entities": {"gene": [{"text": "MAC", "start": 110, "end": 113}], "disease": [{"text": "retinal dystrophies", "start": 129, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to investigate the potential relation of megalin receptor injury with nuclear factor-kappa B (NF-& #954; B) upregulation in acute kidney injury rat model.", "output": {"entities": {"gene": [{"text": "megalin", "start": 73, "end": 80}], "disease": [{"text": "acute kidney injury", "start": 156, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "megalin", "start": 73, "end": 80}, "tail": {"text": "acute kidney injury", "start": 156, "end": 175}}]}}, "schema": []}
{"input": "LL homocygotes in NPY had a greater reduction in glucose, triglycerides, and LDL cholesterol whereas in resistin carriers of the G allele had a greater reduction in weight and triglycerides.", "output": {"entities": {"gene": [{"text": "NPY", "start": 18, "end": 21}], "disease": [{"text": "weight", "start": 165, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Blood samples were obtained retrospectively from a total 55 PUPs who were investigated for the spectrum of FVIII gene mutations responsible for their haemophilia.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 107, "end": 112}], "disease": [{"text": "haemophilia", "start": 150, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 107, "end": 112}, "tail": {"text": "haemophilia", "start": 150, "end": 161}}]}}, "schema": []}
{"input": "A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 24, "end": 39}], "disease": [{"text": "pituitary", "start": 64, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "leptin receptor", "start": 24, "end": 39}, "tail": {"text": "pituitary", "start": 64, "end": 73}}]}}, "schema": []}
{"input": "Clinical and immunologic features of an atypical intracranial mycobacterium avium complex (MAC) infection compared with those of pulmonary MAC infections.", "output": {"entities": {"gene": [{"text": "MAC", "start": 91, "end": 94}], "disease": [{"text": "infections", "start": 143, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Human prostate adenocarcinoma cell lines, TSU-PR1 and PC3, were grown in serum-free media containing 4-HPR.", "output": {"entities": {"gene": [{"text": "PC3", "start": 54, "end": 57}], "disease": [{"text": "prostate adenocarcinoma", "start": 6, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Thus the phenotypic spectrum of CHKB mutations ranges from a congenital muscular dystrophy with intellectual disability to a later-onset non-progressive muscular weakness with normal cognition.", "output": {"entities": {"gene": [{"text": "CHKB", "start": 32, "end": 36}], "disease": [{"text": "normal cognition", "start": 176, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Higher BDNF methylation status was independently associated with prevalent, persistent and particularly with incident PSD, and with worsening depressive symptoms over follow-up but not with baseline severity.", "output": {"entities": {"gene": [{"text": "PSD", "start": 118, "end": 121}], "disease": [{"text": "depressive symptoms", "start": 142, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Our data confirm that a specific pattern of genomic instability characterizes BRCA1/2-related cancers and that this pattern has implications for the biology of these cancers.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 78, "end": 83}], "disease": [{"text": "genomic instability", "start": 44, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that the XLRS1 protein appears not to affect photoreceptor function directly for most XLRS males, and that ERG signaling abnormalities occur in both the ON-and OFF-pathway components that originate in the proximal retina.", "output": {"entities": {"gene": [{"text": "ERG", "start": 130, "end": 133}], "disease": [{"text": "abnormalities", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We measured levels of IL-17 in SF specimens from children with enthesitis-related arthritis (ERA) and polyarticular JIA (poly-JIA), and studied the ability of IL-17 to produce matrix metalloproteinases (MMP) and cytokines by fibroblast-like synoviocytes (FLS) from patients with ERA.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 22, "end": 27}], "disease": [{"text": "enthesitis-related arthritis", "start": 63, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "This study did not demonstrate a difference in the cumulative incidence of BM over time between the two cohorts (EGFR/ALK cohort competing risk regression [CRR] coefficient of 0. 78 [95% CI 0. 44-1. 39], p = 0. 41).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 113, "end": 117}], "disease": [{"text": "regression", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In the current study, for the first time we demonstrated that proteasome inhibitors downregulated 14-3-3ε and 14-3-3θ/τ in U87 and SF295 glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 123, "end": 126}], "disease": [{"text": "glioma", "start": 137, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Since the Tyr-Trp-Thr-Asp beta-propeller domain of LDLR has been shown to be involved in the dissociation of bound LDL via intramolecular competition at low pH, we studied whether it also plays a role in HRV infection.", "output": {"entities": {"gene": [{"text": "LDLR", "start": 51, "end": 55}], "disease": [{"text": "dissociation", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We conclude that bcl-2 is an important regulator of photoreceptor cell death in retinal degenerations.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 17, "end": 22}], "disease": [{"text": "retinal degenerations", "start": 80, "end": 101}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "bcl-2", "start": 17, "end": 22}, "tail": {"text": "retinal degenerations", "start": 80, "end": 101}}]}}, "schema": []}
{"input": "In PCOS patients, variables of body composition (body mass index (BMI), waist to hip ratio, dual-energy X-ray-absorptiometry fat mass) and of insulin resistance were correlated with IL-6 or CRP, while parameters of hyperandogenism were not.", "output": {"entities": {"gene": [{"text": "CRP", "start": 190, "end": 193}], "disease": [{"text": "waist to hip ratio", "start": 72, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of uteroglobin associated with tubal inflammation and ectopic pregnancy.", "output": {"entities": {"gene": [{"text": "uteroglobin", "start": 24, "end": 35}], "disease": [{"text": "ectopic pregnancy", "start": 75, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that MOPs play an important facilitatory role in emotional responses to stress, including anxiety-and depression-like behavior and corticosterone levels.", "output": {"entities": {"gene": [{"text": "MOP", "start": 27, "end": 30}], "disease": [{"text": "depression", "start": 124, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MOP", "start": 27, "end": 30}, "tail": {"text": "depression", "start": 124, "end": 134}}]}}, "schema": []}
{"input": "Forty Caucasian patients with extrahepatic CCA and 40 age-and sex-matched healthy white Caucasians were genotyped to elucidate putative associations between clinical outcome and genotypes of the three following SNPs: G protein beta 3 (GNB3) 825C > T, B-cell-lymphoma-2 (Bcl-2)-938C > A, and myeloid cell leukemia-1 (Mcl-1)-386C > G.", "output": {"entities": {"gene": [{"text": "GNB3", "start": 235, "end": 239}], "disease": [{"text": "leukemia", "start": 304, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported two sisters with chronic Sandhoff disease who were heterozygous for the common HEXB deletion allele.", "output": {"entities": {"gene": [{"text": "HEXB", "start": 107, "end": 111}], "disease": [{"text": "Sandhoff disease", "start": 53, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HEXB", "start": 107, "end": 111}, "tail": {"text": "Sandhoff disease", "start": 53, "end": 69}}]}}, "schema": []}
{"input": "These findings extend the body of evidence that mutations in CYLD are involved in Brooke-Spiegler syndrome and provide additional information for phenotype-genotype correlation.", "output": {"entities": {"gene": [{"text": "CYLD", "start": 61, "end": 65}], "disease": [{"text": "Brooke-Spiegler syndrome", "start": 82, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYLD", "start": 61, "end": 65}, "tail": {"text": "Brooke-Spiegler syndrome", "start": 82, "end": 106}}]}}, "schema": []}
{"input": "To investigate the prevalence of the microsatellite instability related to mismatch repair (MMR) gene defects using a panel of six microsatellite markers, as recommended by a recent workshop on microsatellite instability in colon cancer, because it is still unclear whether abnormalities in DNA MMR genes are involved in transitional cell carcinoma (TCC) of the bladder.", "output": {"entities": {"gene": [{"text": "MMR", "start": 92, "end": 95}], "disease": [{"text": "microsatellite instability", "start": 37, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "NPY induced significant increases in food intake (75%), body weight (9%), plasma insulin (150%) and plasma leptin levels (300%) as compared to the i. c. v.", "output": {"entities": {"gene": [{"text": "NPY", "start": 0, "end": 3}], "disease": [{"text": "body weight", "start": 56, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Patients who had histological evidence of FL involving concurrent BM biopsy specimens had moderate to high levels of bcl-2/JH in both PB and BM aspirate samples, allowing unequivocal determination of translocation status (median bcl-2/JH to cyclophilin level was 8. 014%).", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 117, "end": 122}], "disease": [{"text": "translocation", "start": 200, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Tumour cells formed the major source of VEGF expression, with a minor contribution from mononuclear cells in the tumour stroma and enhanced expression in tumour cells around necrotic regions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 40, "end": 44}], "disease": [{"text": "necrotic", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Denys-Drash syndrome was suspected and molecular analysis of the WT1 gene was performed, although no Wilms' tumor was identified.", "output": {"entities": {"gene": [{"text": "WT1", "start": 65, "end": 68}], "disease": [{"text": "Denys-Drash syndrome", "start": 0, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WT1", "start": 65, "end": 68}, "tail": {"text": "Denys-Drash syndrome", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "We investigated the association of FLG mutations with self-reported food allergy, symptoms of oral allergy syndrome (OAS), and alcohol sensitivity.", "output": {"entities": {"gene": [{"text": "FLG", "start": 35, "end": 38}], "disease": [{"text": "alcohol sensitivity", "start": 127, "end": 146}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FLG", "start": 35, "end": 38}, "tail": {"text": "alcohol sensitivity", "start": 127, "end": 146}}]}}, "schema": []}
{"input": "Frequencies of methylated RASSF1A, CDH13, CACNA1A, HIN-1, and sFRP5 genes in OCCA tissues were significantly higher than those in non-OCCA cancerous tissues and benign endometriotic cysts.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 42, "end": 49}], "disease": [{"text": "cysts", "start": 182, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Correlating with this, high psoriasin expression in human IBC is associated with increased angiogenesis and worse clinical outcome, and psoriasin mRNA levels are coordinately regulated with VEGF and other genes related to hypoxia and mitochondrial reactive oxygen species (ROS).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 190, "end": 194}], "disease": [{"text": "hypoxia", "start": 222, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "To evaluate whether (a) Wnt5a expression in pancreatic cancer and malignant melanoma cells might be associated with constitutive levels of Toll-like receptor 3 (TLR3) and/or TLR3 signaling; (b) phenylmethimazole (C10), a novel TLR signaling inhibitor, could decrease constitutive Wnt5a and TLR3 levels together with cell growth and migration; and (c) the efficacy of C10 as a potential inhibitor of pancreatic cancer and malignant melanoma cell growth in vivo.", "output": {"entities": {"gene": [{"text": "C10", "start": 213, "end": 216}], "disease": [{"text": "pancreatic cancer", "start": 44, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "One hundred and forty two hospitalised patients, affected by major depression and treated with antidepressants drugs for a major depressive episode were evaluated for depressive severity at the baseline and at the discharge and genotyped for five SNPs within the genes HSPA1L, HSPA1A and HSPA1B.", "output": {"entities": {"gene": [{"text": "HSPA1L", "start": 269, "end": 275}], "disease": [{"text": "major depressive episode", "start": 123, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSPA1L", "start": 269, "end": 275}, "tail": {"text": "major depressive episode", "start": 123, "end": 147}}]}}, "schema": []}
{"input": "The deletion of STOP/MAP6 protein in mice triggers highly altered mood and impaired cognitive performances.", "output": {"entities": {"gene": [{"text": "MAP6", "start": 21, "end": 25}], "disease": [{"text": "altered mood", "start": 58, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAP6", "start": 21, "end": 25}, "tail": {"text": "altered mood", "start": 58, "end": 70}}]}}, "schema": []}
{"input": "Moreover, we propose that somatic mosaicism below the detection threshold of FISH analysis in asymptomatic parents of children with genomic disorders may be more common than previously recognized.", "output": {"entities": {"gene": [{"text": "FISH", "start": 77, "end": 81}], "disease": [{"text": "asymptomatic", "start": 94, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Given the normal stability and lack of tendency to dissociation of the mutant enzyme, it appears likely that the dramatic reduction in the level of OTC protein is due to inefficient conversion of the mutant OTC precursor polypeptide (pOTC) into the correctly localized, appropriately folded, mature enzyme trimer, suggesting degradation of pOTC in transit to the mitochondria.", "output": {"entities": {"gene": [{"text": "OTC", "start": 148, "end": 151}], "disease": [{"text": "dissociation", "start": 51, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients with Sanfilippo syndrome type B from six unrelated families was carried out, and six disease-causing mutations were found.", "output": {"entities": {"gene": [{"text": "alpha-N-acetylglucosaminidase", "start": 26, "end": 55}], "disease": [{"text": "Sanfilippo syndrome type B", "start": 93, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-N-acetylglucosaminidase", "start": 26, "end": 55}, "tail": {"text": "Sanfilippo syndrome type B", "start": 93, "end": 119}}]}}, "schema": []}
{"input": "Genetic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynaptic glycinergic proteins including the GlyR beta subunit (GLRB), gephyrin (GPHN) and RhoGEF collybistin (ARHGEF9).", "output": {"entities": {"gene": [{"text": "ARHGEF9", "start": 210, "end": 217}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Three apoptosis-related genes (NOD2, DUSP1, and ADM) and 8 genes overexpressed in AD skin lesions (CCDC109B, CCL5, CCL8, IFI35, LYN, RAB31, IFITM1, and IFITM2) were induced by IFN-γ in primary keratinocytes.", "output": {"entities": {"gene": [{"text": "IFI35", "start": 121, "end": 126}], "disease": [{"text": "skin lesions", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "These results indicated that miR-483-5p might play an important role in reducing insulin resistance, and that miR-486-5p might promote cumulus cell proliferation through activation of PI3K/Akt.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 184, "end": 188}], "disease": [{"text": "insulin resistance", "start": 81, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Reduced PTEN expression relates to aggressiveness of bladder tumors but seems not to have enough specificity for clinical use in the management of superficial bladder cancer.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 8, "end": 12}], "disease": [{"text": "aggressiveness", "start": 35, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to study an allele carrying the variant * 13 G > A in the 3' UTR of the CYP21A2 gene identified in some patients with a mild form of NC-CAH in order to verify the possible implication of this variation with the phenotype observed.", "output": {"entities": {"gene": [{"text": "CYP21A2 gene", "start": 90, "end": 102}], "disease": [{"text": "mild", "start": 138, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Sox17 has emerged as an important factor in vascular remodeling because of the potential linkage with Wnt/β-catenin, Notch, and the inflammatory pathway.", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 106, "end": 115}], "disease": [{"text": "vascular remodeling", "start": 44, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In summary, VEGF and Notch signaling pathway molecules were overexpressed in lung cancer, which positively correlates with hypoxia (HIF1a) and angiogenesis (CD31).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 12, "end": 16}], "disease": [{"text": "hypoxia", "start": 123, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Characterization of the unique chromosomal translocation identified loss of p16 and upregulation of MDR-1 at protein level.", "output": {"entities": {"gene": [{"text": "MDR-1", "start": 100, "end": 105}], "disease": [{"text": "chromosomal translocation", "start": 31, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MDR-1", "start": 100, "end": 105}, "tail": {"text": "chromosomal translocation", "start": 31, "end": 56}}]}}, "schema": []}
{"input": "This previously unreported rearrangement yields a fusion of RUNX1 with the antisense strand of the SV2B gene, a new translocation partner of RUNX1, resulting in the expression of out-of-frame mRNA chimeric transcripts and the production of putative truncated RUNX1 isoforms.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 60, "end": 65}], "disease": [{"text": "translocation", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: SKA2 methylation may index a general propensity to experience stress-related psychopathology, including internalizing disorders and suicidal thoughts and behaviors.", "output": {"entities": {"gene": [{"text": "SKA2", "start": 13, "end": 17}], "disease": [{"text": "suicidal thoughts", "start": 145, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Using mouse and human cell lines, we find that FTO levels are not influenced by serum starvation.", "output": {"entities": {"gene": [{"text": "FTO", "start": 47, "end": 50}], "disease": [{"text": "starvation", "start": 86, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In total, 14 cryptic chromosome rearrangements were detected, including a balanced t (2; 4) (p24. 3; q34. 3) translocation in cell line NBL-S, with the 2p24 breakpoint located at about 40 kb from MYCN.", "output": {"entities": {"gene": [{"text": "MYCN", "start": 196, "end": 200}], "disease": [{"text": "translocation", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "A differential diagnosis with other conditions can be made on the basis of marked autofluorescence changes in combination with an absent light rise on the EOG that outweighs the full-field ERG abnormalities, which point to the BEST1-related hereditary nature of the disease.", "output": {"entities": {"gene": [{"text": "ERG", "start": 189, "end": 192}], "disease": [{"text": "abnormalities", "start": 193, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the genes coding for connexin 26 (Cx26), connexin 30 (Cx30), and connexin 31 (Cx31) are the main cause of autosomal recessive nonsyndromic sensorineural hearing loss (AR-NSNHL).", "output": {"entities": {"gene": [{"text": "Cx31", "start": 91, "end": 95}], "disease": [{"text": "nonsyndromic sensorineural hearing loss", "start": 139, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "The spectrum of abnormalities observed in th (tk-)/th (tk-) mice and the ability of AAPD to correct the behavioral deficits consistent with human psychosis suggests that midbrain 5-HT2A-controlling systems are important loci of therapeutic action.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 179, "end": 185}], "disease": [{"text": "abnormalities", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Reactivity on RIBA-2 or-3, greater age, mean ALT levels in the upper range of normal, higher S: CO ratio on second-generation enzyme-linked immunosorbent assay, and higher gamma globulin levels were predictive of viremia.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 14, "end": 18}], "disease": [{"text": "viremia", "start": 213, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "In accordance, PARP inhibition may prove beneficial not only in preventing atherogenesis but also in promoting regression of preexisting plaques.", "output": {"entities": {"gene": [{"text": "PARP", "start": 15, "end": 19}], "disease": [{"text": "regression", "start": 111, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "TrkB and BDNF expression might play a significant role in the early events in tumorigenesis of cervical SCC.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 9, "end": 13}], "disease": [{"text": "tumorigenesis", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that diverse RNA viruses trigger exportin 1 (XPO1/CRM1)-dependent Drosha translocation into the cytoplasm in a manner independent of de novo protein synthesis or the canonical type I IFN system.", "output": {"entities": {"gene": [{"text": "Drosha", "start": 87, "end": 93}], "disease": [{"text": "translocation", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Activation of PAR-1 leads to cell signaling and up-regulation of genes involved in adhesion, invasion, and angiogenesis.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 14, "end": 19}], "disease": [{"text": "adhesion", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Hepatocyte nuclear factor 1 (HNF1) is a transcription factor involved in the regulation of a large set of hepatic genes, including albumin, beta-fibrinogen, and alpha1-antitrypsin.", "output": {"entities": {"gene": [{"text": "HNF1", "start": 29, "end": 33}], "disease": [{"text": "fibrinogen", "start": 145, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "These novel transgenic mice develop many age-related pathological and biochemical changes reminiscent of human amyotrophic lateral sclerosis including ubiquitinated transactive response DNA-binding protein 43-positive inclusions, transactive response DNA-binding protein 43 cleavage fragments, intermediate filament abnormalities, axonopathy and neuroinflammation.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 186, "end": 205}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 111, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "These data support the role of DCs in differential regulation of CCR3 and CCR4 on CD4 + T cells from HDM-sensitive and non-atopic asthmatics after Der p 1 exposure.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 65, "end": 69}], "disease": [{"text": "atopic", "start": 123, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Low Cav-1 expression was associated with features of plaque instability such as large lipid core, thrombus formation, macrophage infiltration, high IL-6, IL-8 levels and elevated MMP-9 activity.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 148, "end": 152}], "disease": [{"text": "plaque", "start": 53, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder.", "output": {"entities": {"gene": [{"text": "BRD1", "start": 21, "end": 25}], "disease": [{"text": "bipolar affective disorder", "start": 94, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRD1", "start": 21, "end": 25}, "tail": {"text": "bipolar affective disorder", "start": 94, "end": 120}}]}}, "schema": []}
{"input": "Surgery of a cyanotic heart defect in an 11-year-old boy with thrombocytopenic thrombocytopathy and severe anemia due to a GATA-1 defect: hemostatic therapy.", "output": {"entities": {"gene": [{"text": "GATA-1", "start": 123, "end": 129}], "disease": [{"text": "heart defect", "start": 22, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We found a statistically significant increase in proepithelin messenger RNA expression in bladder cancers vis-à-vis non-neoplastic tissues, and this was associated with pathologic and prognostic parameters.", "output": {"entities": {"gene": [{"text": "proepithelin", "start": 49, "end": 61}], "disease": [{"text": "non-neoplastic", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, MK2 played only a minor role in skin inflammation, indicating that modulation of cell signaling gives different results depending on the models of inflammation and target organs that are studied.", "output": {"entities": {"gene": [{"text": "MK2", "start": 14, "end": 17}], "disease": [{"text": "skin inflammation", "start": 46, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.", "output": {"entities": {"gene": [{"text": "Fas", "start": 21, "end": 24}], "disease": [{"text": "autoimmune lymphoproliferative syndrome", "start": 68, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Fas", "start": 21, "end": 24}, "tail": {"text": "autoimmune lymphoproliferative syndrome", "start": 68, "end": 107}}]}}, "schema": []}
{"input": "UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.", "output": {"entities": {"gene": [{"text": "UBIAD1", "start": 0, "end": 6}], "disease": [{"text": "Schnyder corneal dystrophy", "start": 66, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBIAD1", "start": 0, "end": 6}, "tail": {"text": "Schnyder corneal dystrophy", "start": 66, "end": 92}}]}}, "schema": []}
{"input": "Expression and biological function of N-myc down-regulated gene 1 in human cervical cancer.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 38, "end": 43}], "disease": [{"text": "cervical cancer", "start": 75, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Significant clinical correlates of MCP-1 levels were age, cigarette smoking, triglycerides, body mass index, and waist-to-hip ratio.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 35, "end": 40}], "disease": [{"text": "waist-to-hip ratio", "start": 113, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In summary, we identify a novel pathogenic role for KLF11 in preventing de novo disease-associated fibrosis in endometriosis.", "output": {"entities": {"gene": [{"text": "KLF11", "start": 52, "end": 57}], "disease": [{"text": "fibrosis", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We then examined expression of menin, caspase 8 and cyclin-dependent kinase inhibitors p27 (Kip1) and p15 (Ink4b) by Western blotting in human parathyroid tumors surgically resected from patients with MEN1 and those with non-hereditary primary hyperparathyroidism.", "output": {"entities": {"gene": [{"text": "Ink4b", "start": 107, "end": 112}], "disease": [{"text": "primary hyperparathyroidism", "start": 236, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "We will discuss how and under what circumstances oncogenes and epigenetic factors modify CLU expression, with important consequences for mammalian tumorigenesis.", "output": {"entities": {"gene": [{"text": "CLU", "start": 89, "end": 92}], "disease": [{"text": "tumorigenesis", "start": 147, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Following the release of Huh7 cells from serum starvation, the expression of TFIIB was upregulated.", "output": {"entities": {"gene": [{"text": "Huh7", "start": 25, "end": 29}], "disease": [{"text": "starvation", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Glioblastoma multiforme expressed higher levels of Angl, but not to the same degree as pseudopalisading astrocytoma cells around necrotic and hypoxic zones expressed VEGF, as shown in previous studies.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 166, "end": 170}], "disease": [{"text": "necrotic", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "These phenotypes support partial penetrance, variable polydactyly, midline facial defects, and pituitary hormone deficiencies, including diabetes insipidus, conferred by heterozygous frameshift or nonsense GLI2 mutations.", "output": {"entities": {"gene": [{"text": "GLI2", "start": 206, "end": 210}], "disease": [{"text": "diabetes insipidus", "start": 137, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Expression of VEGF and regulation by hypoxia were assessed in three human HCC cell lines using a quantitative competitive reverse transcription-polymerase chain reaction, ELISA, and a series of 5' deletion reporter gene constructs of the human VEGF promoter in transient transfection assays.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 14, "end": 18}], "disease": [{"text": "hypoxia", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Nephritic factors are autoantibodies that bind to the C3b-dependent convertase and render it resistant to dissociation by factor H. Although nephritic factors are currently considered epiphenomena, their role in the pathogenesis of membranoproliferative glomerulonephritis should be reconsidered based on the evidence that circulating convertase is nephritogenic.", "output": {"entities": {"gene": [{"text": "factor H", "start": 122, "end": 130}], "disease": [{"text": "dissociation", "start": 106, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Therefore, this study examines the effect of SP on capsaicin-induced mucosal hyperemia and mast cells.", "output": {"entities": {"gene": [{"text": "SP", "start": 45, "end": 47}], "disease": [{"text": "hyperemia", "start": 77, "end": 86}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SP", "start": 45, "end": 47}, "tail": {"text": "hyperemia", "start": 77, "end": 86}}]}}, "schema": []}
{"input": "RESULTS: Immunohistochemistry showed FAK overexpression was significantly associated with positive lymph node metastasis and more advanced disease stage of NSCLCs and adenocarcinoma subtype; real-time PCR also indicated a statistically significant correlation between increased FAK mRNA level and the presence of nodal metastases.", "output": {"entities": {"gene": [{"text": "FAK", "start": 37, "end": 40}], "disease": [{"text": "lymph node metastasis", "start": 99, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "This revealed 2 candidate regions including the THAP1 gene, where heterozygous mutations cause dystonia 6.", "output": {"entities": {"gene": [{"text": "THAP1", "start": 48, "end": 53}], "disease": [{"text": "dystonia 6", "start": 95, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "THAP1", "start": 48, "end": 53}, "tail": {"text": "dystonia 6", "start": 95, "end": 105}}]}}, "schema": []}
{"input": "CMM reflect dysfunctions and structural abnormalities of the motor network and are mainly inherited in an autosomal-dominant fashion.", "output": {"entities": {"gene": [{"text": "CMM", "start": 0, "end": 3}], "disease": [{"text": "abnormalities", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Taken together with the findings in our recent report we determined the responsible mutations in a total of 7 Japanese patients with USS with a uniform clinical picture of severe neonatal hyperbilirubinemia, and in their family members, based on ADAMTS13 gene analysis.", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 246, "end": 254}], "disease": [{"text": "USS", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS13", "start": 246, "end": 254}, "tail": {"text": "USS", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "The study aim was to investigate NOS3 VNTR, NOS3 G894T, EDN1 C8002T, ACE I/D, AGT M235T and AGTR1 A1166C in nonobese and obese T2DM patients, and their interaction with the incidence of microangiopathy.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 33, "end": 37}], "disease": [{"text": "microangiopathy", "start": 186, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The mean value of the last 6 months' monthly evaluated laboratory values (C-reactive protein, hemoglobin, iron indices, PTH, and albumin) and clinical findings (rHuEPO requirement, cumulative iron supplementation doses, and body weight) were analyzed retrospectively excluding patients with chronic inflammation, hemolytic anemia, or active blood loss such as gastrointestinal bleeding.", "output": {"entities": {"gene": [{"text": "PTH", "start": 120, "end": 123}], "disease": [{"text": "gastrointestinal bleeding", "start": 360, "end": 385}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia-induced recruitment of α (6) β (4) toward raft-located C4. 4A, MT1-MMP, and TACE allows for a shift from adhesion to motility, which is supported by laminin degradation.", "output": {"entities": {"gene": [{"text": "TACE", "start": 84, "end": 88}], "disease": [{"text": "adhesion", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Present results indicate that SHOX plays an important role also in short stature of unknown cause, and FISH analysis appears as an easy, appropriate, and inexpensive method for the detection of SHOX deletion.", "output": {"entities": {"gene": [{"text": "FISH", "start": 103, "end": 107}], "disease": [{"text": "short stature", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in both N-acetyltransferase genes, NAT1 and NAT2, have been associated with an increased risk of colorectal tumors.", "output": {"entities": {"gene": [{"text": "NAT1", "start": 49, "end": 53}], "disease": [{"text": "colorectal tumors", "start": 111, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "TRAIL deficiency and MID1 silencing with small interfering RNA reduced esophageal eosinophil and mast cell numbers and protected against esophageal circumference enlargement, muscularis externa thickening, and collagen deposition.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 0, "end": 5}], "disease": [{"text": "enlargement", "start": 162, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to investigate the distribution of C-60G polymorphism of HSL gene and alleles in fertile and infertile males living in Hamadan, Iran.", "output": {"entities": {"gene": [{"text": "HSL", "start": 82, "end": 85}], "disease": [{"text": "infertile", "start": 118, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The effect of CHOP on the translocation and sequestration of Bcl-2 in the nucleus, which requires the binding of Bcl-2 to ASPP2, is also critical for ASPP2-induced autophagic apoptosis.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 61, "end": 66}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Each proband with fundus albipunctatus in two families (family A' s case was atypical with sectorial retinitis pigmentosa, while family B' s case was typical), and 2 obligate carriers underwent molecular analysis of their RDH5 gene.", "output": {"entities": {"gene": [{"text": "B' s", "start": 136, "end": 140}], "disease": [{"text": "retinitis pigmentosa", "start": 101, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Increased levels of the lysosomal marker LAMP1 was detected in FAD and CBD, and in addition Cathepsin D was diffusely spread in the cytoplasm in all tauopathies suggesting an impaired lysosomal integrity.", "output": {"entities": {"gene": [{"text": "FAD", "start": 63, "end": 66}], "disease": [{"text": "tauopathies", "start": 149, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In the second case, a resected pulmonary metastasis had the karyotype 43-47, XX, + mar1, + mar2 [6]/43-46, XX, + del (7) (p10) [3], + mar2 [1] [cp3]/46, XX [10].", "output": {"entities": {"gene": [{"text": "mar2", "start": 91, "end": 95}], "disease": [{"text": "pulmonary metastasis", "start": 31, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "], which all bound HLA-A2. 1 with high (IC50 < 50 nM) affinity, were able to sensitize HLA-A2 + C1R/A2 cells to be recognized by the gastric cancer-specific CTLs, demonstrating the immunodominance of these epitopes.", "output": {"entities": {"gene": [{"text": "C1R", "start": 96, "end": 99}], "disease": [{"text": "gastric cancer", "start": 133, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We examined the expression of rck/p54 in 29 cases of HCV-related chronic hepatitis and eight cases of hepatocellular carcinoma by immunohistochemistry and Western blot analysis.", "output": {"entities": {"gene": [{"text": "p54", "start": 34, "end": 37}], "disease": [{"text": "chronic hepatitis", "start": 65, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "ETV6-JAK2, PCM1-JAK2, BCR-JAK2) mutations have respectively been described in acute megakaryocytic leukemia and acute leukemia/chronic myeloid malignancies.", "output": {"entities": {"gene": [{"text": "BCR", "start": 22, "end": 25}], "disease": [{"text": "acute megakaryocytic leukemia", "start": 78, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The etiology of chronic idiopathic urticaria (CIU) is attributed to autoantibodies directed against the alpha-chain of the high-affinity IgE receptor (FcepsilonRIalpha) or IgE on mast cells in 30-60% of patients.", "output": {"entities": {"gene": [{"text": "alpha-chain", "start": 104, "end": 115}], "disease": [{"text": "chronic idiopathic urticaria", "start": 16, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "White blood cells, IL-6, hsCRP, and ESR were positively correlated with the neurological deficit of the patients (p < 0. 05).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 19, "end": 23}], "disease": [{"text": "neurological deficit", "start": 76, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In newly diagnosed APL patients, Gli2 expression was significantly positively correlated with Gli1 (R = 0. 57, p & lt; 0. 001) and Smo (R = 0. 56, p & lt; 0. 001) and the expression of Hh pathway components was significantly higher in the high WBC group (p & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "Gli1", "start": 94, "end": 98}], "disease": [{"text": "APL", "start": 19, "end": 22}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gli1", "start": 94, "end": 98}, "tail": {"text": "APL", "start": 19, "end": 22}}]}}, "schema": []}
{"input": "IkappaBalphaM suppressed the expression of hypoxia-induced HIF-1alpha gene in vivo, but hypoxic stress induced the expression of COX-2 after 72 h. VEGF induction followed after 96 h of hypoxia in IN500deltaM cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 147, "end": 151}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Patients were screened for: germline allele-specific expression (ASE), nucleotide variants, rearrangements and promoter methylation of mismatch repair (MMR) genes; germline EPCAM rearrangements; tumor microsatellite instability (MSI) and immunohistochemical (IHC) MMR protein expression.", "output": {"entities": {"gene": [{"text": "MMR", "start": 152, "end": 155}], "disease": [{"text": "microsatellite instability", "start": 201, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that osteoclastic ClC7 Cl (-) channels are activated under extracellar acidification and suppressed in Clcn7 mutant associated with ADO II during bone resorption.", "output": {"entities": {"gene": [{"text": "Clcn7", "start": 125, "end": 130}], "disease": [{"text": "bone resorption", "start": 168, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Instead, we identified several indications of autophagy: electron microscopy showed typical autophagic vacuoles; acridine orange staining revealed acidic vesicular organelles; acidification of acidic vesicular organelles was prevented using bafilomycin A1; cells displayed arrest in G2/M; increased processing of LC3 occurred; vacuolation was prevented by the autophagy inhibitor 3-methyladenine; no caspase activation was detected.", "output": {"entities": {"gene": [{"text": "LC3", "start": 313, "end": 316}], "disease": [{"text": "autophagic vacuoles", "start": 92, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The objective of the investigation was to assess whether circulating adhesion molecules, von Willebrand factor (vWf) and endothelin-1 are elevated in patients with mild uncomplicated essential hypertension without further risk factors of atherosclerosis and whether they could serve as indicators of endothelial dysfunction in this form of hypertension.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 89, "end": 110}], "disease": [{"text": "essential hypertension", "start": 183, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "The expression of p53, p16 and RB proteins and their clinicopathologic correlation were investigated in 15 cases of primary gastric adenosquamous carcinoma and 2 cases of squamous cell carcinoma of the stomach.", "output": {"entities": {"gene": [{"text": "p53", "start": 18, "end": 21}], "disease": [{"text": "gastric adenosquamous carcinoma", "start": 124, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The Glu298Asp polymorphism of the NOS3 may modulate angiogenesis and influence individual susceptibility to endometriosis.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 34, "end": 38}], "disease": [{"text": "endometriosis", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We analyzed its expression at protein, mRNA, and cellular levels using autopsy, biopsy, or operation LV samples from patients with failing hearts caused by acute (AMI) or old (OMI) myocardial infarction and idiopathic dilated cardiomyopathy (DCM) and also examined functional biochemical responses of failing hearts to Ang II.", "output": {"entities": {"gene": [{"text": "OMI", "start": 176, "end": 179}], "disease": [{"text": "myocardial infarction", "start": 181, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, PLD1 and PLD2 expressions were strongly enhanced both in rat and human heart hypertrophy, which may be responsible for the coincident potentiation of the PLD activation by alpha-adrenoceptor and protein kinase C stimulation.", "output": {"entities": {"gene": [{"text": "PLD1", "start": 15, "end": 19}], "disease": [{"text": "heart hypertrophy", "start": 86, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLD1", "start": 15, "end": 19}, "tail": {"text": "heart hypertrophy", "start": 86, "end": 103}}]}}, "schema": []}
{"input": "Recently, three (-243 A > G, + 61450 C > A, and + 83897 T > A) single nucleotide polymorphisms (SNPs) within glutamate decarboxylase 2 (GAD2) were found to be associated with class III obesity (body mass index > 40 kg/m2).", "output": {"entities": {"gene": [{"text": "GAD2", "start": 136, "end": 140}], "disease": [{"text": "body mass index", "start": 194, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "K (ATP) channel (Kir6. 2 or SUR1) mutation, chromosome 6 abnormalities, insulin, or glucokinase gene mutations can lead to isolated NDM.", "output": {"entities": {"gene": [{"text": "SUR1", "start": 28, "end": 32}], "disease": [{"text": "abnormalities", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that FABP7 is associated with schizophrenia and bipolar disorder.", "output": {"entities": {"gene": [{"text": "FABP7", "start": 26, "end": 31}], "disease": [{"text": "bipolar disorder", "start": 69, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FABP7", "start": 26, "end": 31}, "tail": {"text": "bipolar disorder", "start": 69, "end": 85}}]}}, "schema": []}
{"input": "Tissue microarray analysis of NIK expression reveals that dysplastic nevi (n = 22), primary (n = 15) and metastatic melanoma (n = 13) lesions showed a statistically significant elevation in NIK expression when compared with benign nevi (n = 30).", "output": {"entities": {"gene": [{"text": "NIK", "start": 30, "end": 33}], "disease": [{"text": "nevi", "start": 69, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "New translocations in a case of atypical B-cell chronic lymphocytic leukemia: involvement of ATM, MLL, and TP53 genes.", "output": {"entities": {"gene": [{"text": "TP53", "start": 107, "end": 111}], "disease": [{"text": "B-cell chronic lymphocytic leukemia", "start": 41, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP53", "start": 107, "end": 111}, "tail": {"text": "B-cell chronic lymphocytic leukemia", "start": 41, "end": 76}}]}}, "schema": []}
{"input": "Herein, two mutations of the Toll-like receptor (TLR)-4 gene (Asp299Gly and Thr399Ile) resulting in impaired lipopolysaccharide signaling, the-159C/T promotor polymorphism of the CD14 gene, polymorphisms of the lipopolysaccharide binding protein gene and the bactericidal permeability increasing protein gene were evaluated in 102 patients with Crohn' s disease, 98 patients with ulcerative colitis and 145 healthy controls.", "output": {"entities": {"gene": [{"text": "lipopolysaccharide binding protein gene", "start": 211, "end": 250}], "disease": [{"text": "ulcerative colitis", "start": 380, "end": 398}]}, "relations": {}}, "schema": []}
{"input": "Engrafted MSC survival and localization of TNF-alpha protein in infarction myocardium were evaluated.", "output": {"entities": {"gene": [{"text": "MSC", "start": 10, "end": 13}], "disease": [{"text": "infarction", "start": 64, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The expression of VEGF mRNA was significantly higher in epithelial cells of NP than in IT exposed to pro-inflammatory cytokines or hypoxia (P < 0. 01).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 18, "end": 22}], "disease": [{"text": "hypoxia", "start": 131, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Associations between polymorphisms and UAT cancer were assessed by odds ratios and 95% confidence intervals using conditional logistic regression models that adjusted for age, sex, smoking, drinking, and ALDH2.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 204, "end": 209}], "disease": [{"text": "smoking", "start": 181, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "The t (8; 21) (q22; q22) translocation, present in 10-15% of acute myeloid leukemia (AML) cases, generates the AML1/ETO fusion protein.", "output": {"entities": {"gene": [{"text": "AML1", "start": 111, "end": 115}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The transcription rate of the MAT2A gene remained unchanged during l-methionine starvation; however, its mRNA half-life was significantly increased (from 100 min to more than 3 h).", "output": {"entities": {"gene": [{"text": "MAT2A gene", "start": 30, "end": 40}], "disease": [{"text": "starvation", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "While in vitro, following release from serum starvation of HuH7 HCC cell, the expression of Nek6 was upregulated.", "output": {"entities": {"gene": [{"text": "HuH7", "start": 59, "end": 63}], "disease": [{"text": "starvation", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "This study evaluated three mononucleotide microsatellites, BAT-25, BAT-26 and BAT-40 (a polymorphic mononucleotide microsatellite) in RER + acute myeloid leukaemia (AML).", "output": {"entities": {"gene": [{"text": "RER", "start": 134, "end": 137}], "disease": [{"text": "acute myeloid leukaemia", "start": 140, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "These results suggest expression of TGF-alpha and its localization might be linked to cell proliferation and play a role in malignant progression of mouse HBs.", "output": {"entities": {"gene": [{"text": "TGF-alpha", "start": 36, "end": 45}], "disease": [{"text": "HB", "start": 155, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGF-alpha", "start": 36, "end": 45}, "tail": {"text": "HB", "start": 155, "end": 157}}]}}, "schema": []}
{"input": "A total of 113 subjects from 88 families (56 with familial DCM (FDC) and 32 with sporadic DCM) were screened for LAP2 mutations using denaturing high-performance liquid chromatography and sequence analysis.", "output": {"entities": {"gene": [{"text": "LAP2", "start": 113, "end": 117}], "disease": [{"text": "FDC", "start": 64, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LAP2", "start": 113, "end": 117}, "tail": {"text": "FDC", "start": 64, "end": 67}}]}}, "schema": []}
{"input": "Our aim was to investigate the influence of genetic variants in CRHR1, CRHR2, CRH-BP and FKBP5 genes on both the vulnerability for depression and the response to antidepressant treatment.", "output": {"entities": {"gene": [{"text": "CRH-BP", "start": 78, "end": 84}], "disease": [{"text": "depression", "start": 131, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRH-BP", "start": 78, "end": 84}, "tail": {"text": "depression", "start": 131, "end": 141}}]}}, "schema": []}
{"input": "One healthy individual with homozygous plg gene polymorphism 504W studied so far exhibited low normal plg antigen and slightly decreased plg activity, suggesting that this polymorphism is associated with (mild) hypoplasminogenemia.", "output": {"entities": {"gene": [{"text": "plg gene", "start": 39, "end": 47}], "disease": [{"text": "mild", "start": 205, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Unlike sporadic MSI-H CRCs, MSI-H IBD-Ns presented with heterogeneous mismatch repair defects involving MLH1, MSH2, MSH6, or PMS2, and a low frequency of MLH1 promoter methylation.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 116, "end": 120}], "disease": [{"text": "sporadic", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Mutation screening of RYR1 has led to the identification of two previously undescribed mutations in different CCD pedigrees.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 22, "end": 26}], "disease": [{"text": "CCD", "start": 110, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 22, "end": 26}, "tail": {"text": "CCD", "start": 110, "end": 113}}]}}, "schema": []}
{"input": "Here we demonstrate that TBX2 is a strong cell-autonomous inducer of the epithelial-mesenchymal transition (EMT), a latent morphogenetic program that is key to tumor progression from noninvasive to invasive malignant states.", "output": {"entities": {"gene": [{"text": "EMT", "start": 108, "end": 111}], "disease": [{"text": "tumor progression", "start": 160, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.", "output": {"entities": {"gene": [{"text": "15-hydroxyprostaglandin dehydrogenase", "start": 13, "end": 50}], "disease": [{"text": "primary hypertrophic osteoarthropathy", "start": 57, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "15-hydroxyprostaglandin dehydrogenase", "start": 13, "end": 50}, "tail": {"text": "primary hypertrophic osteoarthropathy", "start": 57, "end": 94}}]}}, "schema": []}
{"input": "A greater understanding of the host immune response to MAC organisms will provide a foundation to develop novel therapies for these recalcitrant infections.", "output": {"entities": {"gene": [{"text": "MAC", "start": 55, "end": 58}], "disease": [{"text": "infections", "start": 145, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Association of granulomatosis with polyangiitis (Wegener' s) with HLA-DPB1 * 04 and SEMA6A gene variants: evidence from genome-wide analysis.", "output": {"entities": {"gene": [{"text": "HLA-DPB1", "start": 66, "end": 74}], "disease": [{"text": "granulomatosis with polyangiitis", "start": 15, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HLA-DPB1", "start": 66, "end": 74}, "tail": {"text": "granulomatosis with polyangiitis", "start": 15, "end": 47}}]}}, "schema": []}
{"input": "The median plasma concentration of c split product of C3 (C3c) in normals was 2 mg X 1 (-1), in patients with Crohn' s disease 20 mg X 1 (-1) and in patients with ulcerative colitis 3 mg X 1 (-1).", "output": {"entities": {"gene": [{"text": "C3c", "start": 58, "end": 61}], "disease": [{"text": "ulcerative colitis", "start": 163, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "This work is the first to generate MsrB3 knockout mice to elucidate the possible pathological mechanisms of hearing loss observed in DFNB74 patients.", "output": {"entities": {"gene": [{"text": "MsrB3", "start": 35, "end": 40}], "disease": [{"text": "DFNB74", "start": 133, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MsrB3", "start": 35, "end": 40}, "tail": {"text": "DFNB74", "start": 133, "end": 139}}]}}, "schema": []}
{"input": "Nonmuscle myosin IIA is associated with poor prognosis of esophageal squamous cancer.", "output": {"entities": {"gene": [{"text": "Nonmuscle myosin IIA", "start": 0, "end": 20}], "disease": [{"text": "esophageal", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Screening of sporadic patients for LGI1 mutations appears not useful in genetic counselling of these patients.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 35, "end": 39}], "disease": [{"text": "sporadic", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Moreover, hypoxia triggered a significant decrease of Notch 1 and Notch 2 mRNA and protein expression, with subsequent downregulation of Notch-mediated signaling, as shown by reduced levels of the Notch target genes, Hes1 and Hey1.", "output": {"entities": {"gene": [{"text": "Hes1", "start": 217, "end": 221}], "disease": [{"text": "hypoxia", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "It is characterized by the presence of both an activating MYC chromosomal translocation and a simultaneous additional oncogenic translocation, often of the BCL2 gene.", "output": {"entities": {"gene": [{"text": "BCL2 gene", "start": 156, "end": 165}], "disease": [{"text": "translocation", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.", "output": {"entities": {"gene": [{"text": "ASIP", "start": 6, "end": 10}], "disease": [{"text": "sporadic", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "We propose that HRH1, NRP2, and STX1A can be used as prognostic biomarkers and therapeutic targets for basal and HER2-enriched breast cancer subtypes.", "output": {"entities": {"gene": [{"text": "HRH1", "start": 16, "end": 20}], "disease": [{"text": "breast cancer", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Gender-specific role of the protein tyrosine phosphatase receptor type R gene in major depressive disorder.", "output": {"entities": {"gene": [{"text": "protein tyrosine phosphatase receptor type R", "start": 28, "end": 72}], "disease": [{"text": "major depressive disorder", "start": 81, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "protein tyrosine phosphatase receptor type R", "start": 28, "end": 72}, "tail": {"text": "major depressive disorder", "start": 81, "end": 106}}]}}, "schema": []}
{"input": "Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.", "output": {"entities": {"gene": [{"text": "eIF2B", "start": 46, "end": 51}], "disease": [{"text": "leukoencephalopathy with vanishing white matter", "start": 66, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "eIF2B", "start": 46, "end": 51}, "tail": {"text": "leukoencephalopathy with vanishing white matter", "start": 66, "end": 113}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the biological actions regulated by leptin, the obesity biomarker molecule, and its receptors in HCC and the correlation between leptin and human telomerase reverse transcriptase (hTERT), a known mediator of cellular immortalization.", "output": {"entities": {"gene": [{"text": "telomerase reverse transcriptase", "start": 187, "end": 219}], "disease": [{"text": "obesity", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Serum fasting blood sugar, total cholesterol and triglycerides levels, urinary excretion of sodium, immunoreactive fasting insulin, plasma ANF levels, plasma renin activity (PRA), plasma aldosterone level, plasma adrenaline and noradrenaline levels and echocardiographic total left ventricular mass (LVM) and LVM: height ratio were also calculated.", "output": {"entities": {"gene": [{"text": "PRA", "start": 174, "end": 177}], "disease": [{"text": "height", "start": 314, "end": 320}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the involvement of Hh-interacting protein (HHIP) gene, a negative regulator of Hh signaling, in HCC.", "output": {"entities": {"gene": [{"text": "HHIP", "start": 55, "end": 59}], "disease": [{"text": "HCC", "start": 108, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HHIP", "start": 55, "end": 59}, "tail": {"text": "HCC", "start": 108, "end": 111}}]}}, "schema": []}
{"input": "In single-marker-based analysis, the DRD2 rs4436578-C homozygous genotype was found to be associated with a significantly increased risk of BWG [P = 0. 001, adjusted odds ratio = 3. 36 (95% confidence interval = 1. 62-7. 00)].", "output": {"entities": {"gene": [{"text": "DRD2", "start": 37, "end": 41}], "disease": [{"text": "BWG", "start": 140, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DRD2", "start": 37, "end": 41}, "tail": {"text": "BWG", "start": 140, "end": 143}}]}}, "schema": []}
{"input": "We report that RalA is activated in several human melanoma cancer cell lines harboring an oncogenic NRAS allele, an oncogenic BRAF allele or wild-type NRAS and BRAF alleles.", "output": {"entities": {"gene": [{"text": "RalA", "start": 15, "end": 19}], "disease": [{"text": "melanoma", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The study of 230 diabetic mothers along with their newborn babies has shown that foetal macrosomia is associated with two specific genomic sites: phosphoglucomutase locus 1 (PGM1)-Rhesus blood group (Rh) linkage group (chromosome 1) and HindIII restriction fragment length polymorphism (RFLP) linked to insulin-like growth factor 1 (IGF1) (chromosome 12).", "output": {"entities": {"gene": [{"text": "PGM1", "start": 174, "end": 178}], "disease": [{"text": "foetal macrosomia", "start": 81, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The aims of this work were to determine whether chronic obstructive sleep apnea (OSA) induces an atrial pro-arrhythmogenic substrate and to explore whether mesenchymal stem cells (MSC) are able to prevent it in a rat model of OSA.", "output": {"entities": {"gene": [{"text": "MSC", "start": 180, "end": 183}], "disease": [{"text": "obstructive sleep apnea", "start": 56, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis detected LIPH expression in most of the adenocarcinomas and bronchioloalveolar carcinomas tissue sections obtained from lung cancer patients.", "output": {"entities": {"gene": [{"text": "LIPH", "start": 38, "end": 42}], "disease": [{"text": "lung cancer", "start": 149, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Synergistic effect of polymorphisms in uncoupling protein 1 and beta3-adrenergic receptor genes on long-term body weight change in Finnish type 2 diabetic and non-diabetic control subjects.", "output": {"entities": {"gene": [{"text": "beta3", "start": 64, "end": 69}], "disease": [{"text": "body weight change", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The Xp; Yp translocation occurred within an 87-bp homologous segment of PRKX and PRKY in case 2, and between non-homologous regions with addition of an 18-bp sequence of unknown origin in case 4.", "output": {"entities": {"gene": [{"text": "PRKX", "start": 72, "end": 76}], "disease": [{"text": "translocation", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "In addition, several SNPs of these loci (ANAPC1, KANK1, NACM1, TCC12, SLCO3A1 and ZCCHC14) were associated with alcohol dependence.", "output": {"entities": {"gene": [{"text": "ANAPC1", "start": 41, "end": 47}], "disease": [{"text": "alcohol dependence", "start": 112, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANAPC1", "start": 41, "end": 47}, "tail": {"text": "alcohol dependence", "start": 112, "end": 130}}]}}, "schema": []}
{"input": "Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t (8; 19) (p12; q13. 3).", "output": {"entities": {"gene": [{"text": "p12", "start": 64, "end": 67}], "disease": [{"text": "myeloproliferative disorder", "start": 78, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Remarkably, a single conserved LDHA exon 5 haplotype conferred increased risk for a paradoxical ventilatory response pattern to CO (2) inhalation which robustly separated well subjects at high risk for PD from low-risk control subjects.", "output": {"entities": {"gene": [{"text": "LDHA", "start": 31, "end": 35}], "disease": [{"text": "inhalation", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We previously found that a long non-coding RNA, the plasmacytoma variant translocation 1 (PVT1), increases plasminogen activator inhibitor 1 (PAI-1) and transforming growth factor beta 1 (TGF-β1) in mesangial cells, the two main contributors to ECM accumulation in the glomeruli under hyperglycemic conditions, as well as fibronectin 1 (FN1), a major ECM component.", "output": {"entities": {"gene": [{"text": "ECM", "start": 245, "end": 248}], "disease": [{"text": "translocation", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Discontinuation of this treatment resulted in worsening of the ataxia, cognitive decline, and severe depression. The older sister, who is 32 years old, has nonprogressive dysarthria and clumsiness from the age of 10 years and MRI reveals cerebellar atrophy. Exome sequencing identified compound heterozygosity for a known (p. Thr584delACC (c. 1750_1752delACC)) and a novel (p. P502R) mutation in the ACDK3 gene.", "output": {"entities": {"gene": [{"text": "MRI", "start": 226, "end": 229}], "disease": [{"text": "clumsiness", "start": 186, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "PRI-2191 alone had no effect on gene expression, but it enhanced the seizure-evoked expression of HSP-70, had an opposite effect on BDNF mRNA level and did not affect prepro-TRH mRNA level.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 132, "end": 136}], "disease": [{"text": "seizure", "start": 69, "end": 76}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "BDNF", "start": 132, "end": 136}, "tail": {"text": "seizure", "start": 69, "end": 76}}]}}, "schema": []}
{"input": "Adenoviral gene transfer of uteroglobin, delivered intraluminally after arterial injury causes the production of uteroglobin protein and has an inhibitory effect on neointimal accumulation in the rat model.", "output": {"entities": {"gene": [{"text": "uteroglobin", "start": 28, "end": 39}], "disease": [{"text": "arterial injury", "start": 72, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "\" Severe AKI \" had higher levels of plasma IL-10, MIF and IL-6 compared to \" no AKI \" and mild AKI (p < 0. 05 for each), with no difference in mHLA-DR at day 0.", "output": {"entities": {"gene": [{"text": "MIF", "start": 50, "end": 53}], "disease": [{"text": "mild", "start": 90, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We examined whether two GPR10 polymorphisms (G-62A and C914T) modify the association between PAEE and blood pressure in the MRC Ely study (N = 687).", "output": {"entities": {"gene": [{"text": "GPR10", "start": 24, "end": 29}], "disease": [{"text": "blood pressure", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Previously we have shown that CREB (alphaDelta) mutant mice in a mixed genetic background show attenuated signs of physical dependence, as measured by the classic signs of withdrawal.", "output": {"entities": {"gene": [{"text": "CREB", "start": 30, "end": 34}], "disease": [{"text": "physical dependence", "start": 115, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We investigated the activity and expression of MMP-9 and-2 in ethanol-induced acute gastric ulceration in rats.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 47, "end": 52}], "disease": [{"text": "gastric ulceration", "start": 84, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 47, "end": 52}, "tail": {"text": "gastric ulceration", "start": 84, "end": 102}}]}}, "schema": []}
{"input": "In this study, the authors examine the expression of HIF-1alpha and VEGF in meningiomas, with a special emphasis on conditions of hypoxia, such as preoperative embolization, and on in vitro studies in cultured cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 68, "end": 72}], "disease": [{"text": "hypoxia", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Monoamine oxidase A and B (MAOA and MAOB) appear to be involved in the pathogenesis of Major Depression, and vulnerability of Major Depression is associated with personality traits relating to positive and negative affect.", "output": {"entities": {"gene": [{"text": "MAOB", "start": 36, "end": 40}], "disease": [{"text": "personality traits", "start": 162, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "GST profiling may be useful in the screening for thyroid nodule malignancy.", "output": {"entities": {"gene": [{"text": "GST", "start": 0, "end": 3}], "disease": [{"text": "nodule", "start": 57, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The expression of the VPF/VEGF receptor Flt-1 was selectively induced on dermal microvessels in skin explant cultures and in dermal endothelial cell monolayer cultures under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VPF", "start": 22, "end": 25}], "disease": [{"text": "hypoxic", "start": 174, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Immunoblot analysis of XPA proteins revealed that a typical group-A XP patient showed no XPA protein band, while a smaller, truncated XPA protein, which appears to be responsible for mid skin lesions and minimal neurological abnormalities, was detected in cells from three atypical group-A XP patients.", "output": {"entities": {"gene": [{"text": "XPA", "start": 23, "end": 26}], "disease": [{"text": "abnormalities", "start": 225, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Although the importance of microsatellite instability (MSI) and mismatch repair genes (MMR) is strongly established in colorectal cancer seen in the Lynch syndrome, its significance has not been fully established in Wilms tumor (WT).", "output": {"entities": {"gene": [{"text": "MMR", "start": 87, "end": 90}], "disease": [{"text": "microsatellite instability", "start": 27, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, cisplatin and temsirolimus exerted synergistic inhibition of the mTOR downstream signals and enhanced growth inhibition and/or apoptosis induction in mesothelioma cell lines.", "output": {"entities": {"gene": [{"text": "mTOR", "start": 78, "end": 82}], "disease": [{"text": "mesothelioma", "start": 163, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mTOR", "start": 78, "end": 82}, "tail": {"text": "mesothelioma", "start": 163, "end": 175}}]}}, "schema": []}
{"input": "Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.", "output": {"entities": {"gene": [{"text": "BAAT", "start": 86, "end": 90}], "disease": [{"text": "familial hypercholanemia", "start": 23, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BAAT", "start": 86, "end": 90}, "tail": {"text": "familial hypercholanemia", "start": 23, "end": 47}}]}}, "schema": []}
{"input": "Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 79, "end": 100}], "disease": [{"text": "Fabry disease", "start": 135, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 79, "end": 100}, "tail": {"text": "Fabry disease", "start": 135, "end": 148}}]}}, "schema": []}
{"input": "Propranolol dose-dependently reduced upregulated VEGF and decreased hypoxic levels of IGF-1 mRNA and HIF-1α.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxic", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The presence of the complement-derived anaphylatoxin peptides, C3a and C5a, in the lung can induce respiratory distress characterized by contraction of the smooth muscle walls in bronchioles and pulmonary arteries and aggregation of platelets and leukocytes in pulmonary vessels.", "output": {"entities": {"gene": [{"text": "C3a", "start": 63, "end": 66}], "disease": [{"text": "respiratory distress", "start": 99, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Finally, we also noted differential overexpression of several neural-or neuroectodermal-associated genes in synovial sarcomas relative to the comparison sarcoma group, including OLFM1, TLE2, CNTNAP1, and DRPLA.", "output": {"entities": {"gene": [{"text": "OLFM1", "start": 178, "end": 183}], "disease": [{"text": "sarcoma", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The relationship with the TT genotype was stronger in white patients with nonatopic asthma (OR = 4. 4 [95% CI = 1. 3-14. 8]) and patients with food allergy (OR = 5. 1 [95% CI = 1. 6-16. 2]), even adjusting for sex differences (OR = 3. 9 [95% CI = 1. 1-13. 5] and OR = 4. 6 [95% CI = 1. 4-14. 8], respectively).", "output": {"entities": {"gene": [{"text": "6-16", "start": 180, "end": 184}], "disease": [{"text": "asthma", "start": 84, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Recently, similar biochemical characteristics of HLA-B27 were reported in cells from HLA-B27/human beta2-microglobulin transgenic (HLA-B27 transgenic) rats, an animal model of spondyloarthritis, and correlated with disease susceptibility.", "output": {"entities": {"gene": [{"text": "beta2", "start": 99, "end": 104}], "disease": [{"text": "spondyloarthritis", "start": 176, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Ginkgolide B significantly reduced atherosclerotic lesions and P-selectin, PF4, RANTES, and CD40L expression in aortic plaque in ApoE-/-mice.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 92, "end": 97}], "disease": [{"text": "plaque", "start": 119, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, HO-1 expression was distributed in overall human coronary atherosclerotic lesions, particularly in diabetic subjects, indicating that HO-1 expression is intimately associated with atherogenesis and may play an important role as an adaptive molecule in the inflammatory-repair process.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 15, "end": 19}], "disease": [{"text": "atherogenesis", "start": 195, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 109, "end": 129}], "disease": [{"text": "uropathy", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Rapid and similar change was present for all 3 cognitive measures in patients with dementia and in those with normal cognition and those with MCI who progressed clinically.", "output": {"entities": {"gene": [{"text": "MCI", "start": 142, "end": 145}], "disease": [{"text": "normal cognition", "start": 110, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 12, "end": 16}], "disease": [{"text": "Waardenburg syndrome type 1", "start": 53, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX3", "start": 12, "end": 16}, "tail": {"text": "Waardenburg syndrome type 1", "start": 53, "end": 80}}]}}, "schema": []}
{"input": "223 incident papillary thyroid cancer cases and 513 controls recruited from Saudi Arabian population were analyzed for the association between polymorphisms in genes encoding folic acid metabolizing enzymes MTHFR and six xenobiotics-metabolizing enzymes including CYP1A1 T3801C, C4887A, GSTP1 A1578G, C2293T, GSTM1, GSTT1, NAT2 G590A, NQO * 1 C609T, using PCR-RELP.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 323, "end": 327}], "disease": [{"text": "papillary thyroid cancer", "start": 13, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "GSPE treatment significantly attenuated the development of autoimmune arthritis in obese CIA model.", "output": {"entities": {"gene": [{"text": "CIA", "start": 89, "end": 92}], "disease": [{"text": "autoimmune arthritis", "start": 59, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Thus, Smac would sensitize tumor cells to chemotherapeutic drugs in part through promoting Bax translocation to mitochondria and bypassing Bcl-2 block.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 139, "end": 144}], "disease": [{"text": "translocation", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The protein expression of ERK1/2, zinc fifi nger E-box-binding homeobox 1 (ZEB1), Scrib and lethal giant larvae homolog 2 (Lgl2) was detected by Western blotting while the relative mRNA quantity of E-cadherin, N-cadherin, Occludin and junctional adhesion molecule-1 (JAM1) was measured by realtime fluorescent quantitative polymerase chain reaction (RT-qPCR).", "output": {"entities": {"gene": [{"text": "N-cadherin", "start": 210, "end": 220}], "disease": [{"text": "giant", "start": 99, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Also, patients with the MCP-1 and CCR-2 mutated alleles were more likely to continue to have an undetectable viral load following treatment (P = 0. 05).", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 24, "end": 29}], "disease": [{"text": "viral load", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Indeed, PEA3 coupled with the liposome SN2 demonstrated therapeutic effects in mice bearing tumors induced by BT474M1.", "output": {"entities": {"gene": [{"text": "SN2", "start": 39, "end": 42}], "disease": [{"text": "tumors", "start": 92, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "STAT3 is involved in esophageal carcinogenesis through regulation of Oct-1.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 0, "end": 5}], "disease": [{"text": "esophageal", "start": 21, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The high blood pressure of the Cx40 knockout mice was significantly reduced when Cx45 was knocked into the locus but remained mildly elevated compared to wild-type mice.", "output": {"entities": {"gene": [{"text": "Cx45", "start": 81, "end": 85}], "disease": [{"text": "high blood pressure", "start": 4, "end": 23}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Cx45", "start": 81, "end": 85}, "tail": {"text": "high blood pressure", "start": 4, "end": 23}}]}}, "schema": []}
{"input": "The levels of retinal VEGF mRNA expression followed the hypoxia-induced pattern determined previously by conventional methods.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 22, "end": 26}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The modifying effect of GSTO2 * G/G genotype on individual susceptibility to TCC is more pronounced, when associated with smoking.", "output": {"entities": {"gene": [{"text": "GSTO2", "start": 24, "end": 29}], "disease": [{"text": "smoking", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Both genes involved, translocation ets like gene (or ETV6) on chromosome 12 and acute myeloid leukemia 1 gene (or CBF alpha) on chromosome 21 had been identified for several years previously, which facilitated the rapid development of molecular diagnostic assays and their implementation in therapy trials.", "output": {"entities": {"gene": [{"text": "acute myeloid leukemia 1 gene", "start": 80, "end": 109}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Rapid acetylator NAT2 phenotype increased the risk of both T-cell lymphoma (OR = 3. 2; 95% CI: 1. 1-9. 5) and marginal zone lymphoma (OR = 3. 0; 95% CI: 1. 0-8. 7), though these results were based on a small number of cases.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 17, "end": 21}], "disease": [{"text": "marginal zone lymphoma", "start": 110, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Studies with neuroblastoma cells have indicated the presence of a hypoxia-driven vascular endothelial growth factor (VEGF)/VEGF receptor (VEGFR)-1 autocrine loop modulating hypoxia-inducible factor-1alpha (HIF-1alpha).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 117, "end": 121}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Integrin-linked kinase expression is elevated in human cardiac hypertrophy and induces hypertrophy in transgenic mice.", "output": {"entities": {"gene": [{"text": "Integrin-linked kinase", "start": 0, "end": 22}], "disease": [{"text": "cardiac hypertrophy", "start": 55, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Analyses of LD patient mutations define the mechanism by which subsets of mutations disrupt laforin function.", "output": {"entities": {"gene": [{"text": "laforin", "start": 92, "end": 99}], "disease": [{"text": "LD", "start": 12, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "laforin", "start": 92, "end": 99}, "tail": {"text": "LD", "start": 12, "end": 14}}]}}, "schema": []}
{"input": "In 21 of 28 (75%) cervical cancer cases, the lumican protein was strongly expressed in cancer cells, and accumulated particularly in cancer cells at the periphery of the cancer nests.", "output": {"entities": {"gene": [{"text": "lumican", "start": 45, "end": 52}], "disease": [{"text": "cervical cancer", "start": 18, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "In contrast to AD, different CCL checkpoint proteins, which include p53, CHEK1 and BRCA1 were significantly downregulated in SZ.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 83, "end": 88}], "disease": [{"text": "SZ", "start": 125, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRCA1", "start": 83, "end": 88}, "tail": {"text": "SZ", "start": 125, "end": 127}}]}}, "schema": []}
{"input": "EBV has been reported to upregulate bcl-2 expression, but in this study the presence of bcl-2 protein did not correlate with the presence of the t (14; 18) translocation or EBV-LMP.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 36, "end": 41}], "disease": [{"text": "translocation", "start": 156, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Variants in IRF4 and SLC24A4, despite being strongly associated with pigmentation in our sample, did not modify CMM risk, but the other six did.", "output": {"entities": {"gene": [{"text": "CMM", "start": 112, "end": 115}], "disease": [{"text": "pigmentation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The highest TGFBR16A allelic frequency was found among MMR-negative patients with tumors exhibiting no microsatellite instability (0. 211), and the lowest frequency was found among MMR-positive patients with tumors exhibiting microsatellite instability (0. 121); the difference was not statistically significant (P =. 17).", "output": {"entities": {"gene": [{"text": "MMR", "start": 55, "end": 58}], "disease": [{"text": "microsatellite instability", "start": 103, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer.", "output": {"entities": {"gene": [{"text": "HOXA9", "start": 15, "end": 20}], "disease": [{"text": "Bladder Cancer", "start": 82, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXA9", "start": 15, "end": 20}, "tail": {"text": "Bladder Cancer", "start": 82, "end": 96}}]}}, "schema": []}
{"input": "In the sporadic form, the HM phenotype is driven by an abnormal ratio of paternal to maternal genomes, whereas in the recurrent form, the HM phenotype is caused by maternal-recessive mutations, mostly in NLRP7, despite the diploid biparental origin of the HM tissues.", "output": {"entities": {"gene": [{"text": "NLRP7", "start": 204, "end": 209}], "disease": [{"text": "sporadic", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 148, "end": 153}], "disease": [{"text": "benign familial neonatal-infantile seizures", "start": 53, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN2A", "start": 148, "end": 153}, "tail": {"text": "benign familial neonatal-infantile seizures", "start": 53, "end": 96}}]}}, "schema": []}
{"input": "An increased frequency of adverse pregnancy outcome, including pregnancy loss, intrauterine growth restriction, and premature labor, has been observed in association with confined placental mosaicism (CPM), which is characterized by a discrepancy between the karyotype of the fetus and placenta.", "output": {"entities": {"gene": [{"text": "CPM", "start": 201, "end": 204}], "disease": [{"text": "premature labor", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Pulmonary hypertension (PH) is associated with reduced PPARγ expression, and hypoxia exposure regimens that cause PH reduce PPARγ expression.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 55, "end": 60}], "disease": [{"text": "hypoxia", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge this is the first report to implicate DOCK9 or the Rho-GTPase pathway in the etiology of bipolar disorder.", "output": {"entities": {"gene": [{"text": "DOCK9", "start": 55, "end": 60}], "disease": [{"text": "bipolar disorder", "start": 106, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DOCK9", "start": 55, "end": 60}, "tail": {"text": "bipolar disorder", "start": 106, "end": 122}}]}}, "schema": []}
{"input": "Importantly, sustained activation of TLR3/TLR4 due to environmental factors including infection and stress has been found to generate excessive reactive oxygen species (ROS)/reactive nitrogen species (RNS) as well as pro-inflammatory mediators during embryogenesis, which result into neuronal damage by necrosis/apoptosis.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 42, "end": 46}], "disease": [{"text": "necrosis", "start": 303, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "We found significant loss of MMR proteins (known to be associated with microsatellite instability) in the stromal component of ETs.", "output": {"entities": {"gene": [{"text": "MMR", "start": 29, "end": 32}], "disease": [{"text": "microsatellite instability", "start": 71, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In the present report, using recombinant adenovirus encoding the wild-type or a dominant negative form of MITF, as well as stable cell lines expressing tetracycline inducible wild-type MITF, we reassessed the role of MITF in melanocyte differentiation and in the regulation of melanin synthesis.", "output": {"entities": {"gene": [{"text": "MITF", "start": 106, "end": 110}], "disease": [{"text": "adenovirus", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "These results show that miR-145 suppresses Ets1 expression via the binding site in the 3'-UTR, thus inhibiting the invasion, metastasis, and angiogenesis of gastric cancer cells.", "output": {"entities": {"gene": [{"text": "UTR", "start": 90, "end": 93}], "disease": [{"text": "metastasis", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Gamma-aminobutyric acid transporter 1 negatively regulates T cell-mediated immune responses and ameliorates autoimmune inflammation in the CNS.", "output": {"entities": {"gene": [{"text": "Gamma-aminobutyric acid transporter", "start": 0, "end": 35}], "disease": [{"text": "inflammation", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "NAGT, MIF1 and MIF2 do not alter the severity of kala-azar.", "output": {"entities": {"gene": [{"text": "MIF1", "start": 6, "end": 10}], "disease": [{"text": "kala-azar", "start": 49, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Both leptin (LEP) and leptin receptor (LEPR) are important in the regulation of body weight.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 39, "end": 43}], "disease": [{"text": "body weight", "start": 80, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical staining of human carotid atherosclerotic plaques revealed a high-level expression of TL1A in regions rich in macrophage/foam cells.", "output": {"entities": {"gene": [{"text": "TL1A", "start": 106, "end": 110}], "disease": [{"text": "foam cells", "start": 141, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Thus, SIVA enables tumorigenesis in a p53-independent manner, revealing a potential new cancer therapy target.", "output": {"entities": {"gene": [{"text": "SIVA", "start": 6, "end": 10}], "disease": [{"text": "tumorigenesis", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "On the contrary our study demonstrated the specific association of HCV-4 with PKR expressed in hepatocellular carcinoma (HCC) tissues, leading to an increased gene expression of the kinase in comparison to chronic hepatitis tissues.", "output": {"entities": {"gene": [{"text": "PKR", "start": 78, "end": 81}], "disease": [{"text": "chronic hepatitis", "start": 206, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Topotecan counteracted hypoxic induction of VEGF and decreased angiogenic activity of conditioned medium from hypoxic cultures in vivo in the chick chorioallantoic membrane.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 44, "end": 48}], "disease": [{"text": "hypoxic", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "The clinical diagnoses of patients with GRN A9D mutations were amyotrophic lateral sclerosis, atypical extrapyramidal disorder, and behavioral variant frontotemporal dementia.", "output": {"entities": {"gene": [{"text": "GRN", "start": 40, "end": 43}], "disease": [{"text": "extrapyramidal disorder", "start": 103, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In non-progressive cells, low levels of p53 were found by FACS, none was positive in the PAb240 ELISA and only one case showed a weak proliferative response to SAC/IL-2.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 164, "end": 168}], "disease": [{"text": "non-progressive", "start": 3, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Whereas Ldlr (-/-) Apobec1 (-/-) mice fed a western-type diet and injected with a control AAV8. null vector experienced a further 65% progression in atherosclerosis over 2 months compared with baseline mice, Ldlr (-/-) Apobec1 (-/-) mice treated with AAV8. mLDLR realized an 87% regression of atherosclerotic lesions after 3 months compared to baseline mice.", "output": {"entities": {"gene": [{"text": "Apobec1", "start": 19, "end": 26}], "disease": [{"text": "regression", "start": 279, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that beta2-containing nAChRs are involved in the affective signs of nicotine withdrawal, whereas non-beta2-containing nAChRs are more closely associated with physical signs of nicotine withdrawal; thus, the nAChR subtype composition may play an important role in the involvement of specific subtypes in nicotine withdrawal.", "output": {"entities": {"gene": [{"text": "beta2", "start": 27, "end": 32}], "disease": [{"text": "nicotine withdrawal", "start": 90, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "These data support the existence of a key molecular switching mechanism triggered by blocking peripheral CRF receptors with an antagonist to reset hair growth in a mouse model of alopecia associated with chronic stress.", "output": {"entities": {"gene": [{"text": "CRF", "start": 105, "end": 108}], "disease": [{"text": "alopecia", "start": 179, "end": 187}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF", "start": 105, "end": 108}, "tail": {"text": "alopecia", "start": 179, "end": 187}}]}}, "schema": []}
{"input": "Our screening of 5q31-32 implicates three potential candidate genes for SZ: SMAD5, TGFBI and SPRY4.", "output": {"entities": {"gene": [{"text": "SMAD5", "start": 76, "end": 81}], "disease": [{"text": "SZ", "start": 72, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMAD5", "start": 76, "end": 81}, "tail": {"text": "SZ", "start": 72, "end": 74}}]}}, "schema": []}
{"input": "RAGE, CML, S100A12, and S100B immunoreactivity was observed in all sarcoid granulomas, although at different intensities.", "output": {"entities": {"gene": [{"text": "S100A12", "start": 11, "end": 18}], "disease": [{"text": "sarcoid", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "However, the majority of CD26-expressing cases clustered in the lymphoblastic lymphomas (LBL)/T-acute lymphoblastic leukemias (ALL; 12/23) and CD30 + anaplastic large-cell (ALC) lymphomas (5/8), whereas CD40L + lymphomas included a large fraction of mycosis fungoides (11/21 [52%]).", "output": {"entities": {"gene": [{"text": "ALC", "start": 173, "end": 176}], "disease": [{"text": "mycosis fungoides", "start": 250, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Male variant carriers (VCs) of the IGF-I promoter polymorphism had a 0. 2 kg lower birth weight than men with the wild type allele (p = 0. 009).", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 35, "end": 40}], "disease": [{"text": "birth weight", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "These findings confirm the importance of genetic factors in body weight change induced by long-term clozapine treatment in patients with schizophrenia, and indicate a role for the G protein beta3 subunit in body weight regulation during long-term clozapine treatment.", "output": {"entities": {"gene": [{"text": "beta3", "start": 190, "end": 195}], "disease": [{"text": "body weight change", "start": 60, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Angiogenic therapy with the vascular endothelial growth factor (VEGF) is a promising strategy to overcome hypoxia and its consequences.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 64, "end": 68}], "disease": [{"text": "hypoxia", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the mean plasma PTH concentration was within the normal range in eight of 11 studied mutations, but mild to moderately elevated in families with the mutations p. C582Y, p. C582F, and p. G553R.", "output": {"entities": {"gene": [{"text": "PTH", "start": 29, "end": 32}], "disease": [{"text": "mild", "start": 113, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of miR-145 dose-dependently down-regulated YTHDF2 expression in HCC cells at the levels of both mRNA and protein.", "output": {"entities": {"gene": [{"text": "YTHDF2", "start": 58, "end": 64}], "disease": [{"text": "HCC", "start": 79, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "YTHDF2", "start": 58, "end": 64}, "tail": {"text": "HCC", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "Cell-free DNA was isolated from 1 ml serum from patients with bladder cancer (BCA, n = 84), renal cell carcinoma (RCC, n = 33), and prostate cancer (CaP, n = 23), and compared with healthy individuals (n = 79).", "output": {"entities": {"gene": [{"text": "BCA", "start": 78, "end": 81}], "disease": [{"text": "renal cell carcinoma", "start": 92, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The biologic characteristics of the two human giant-cell lung carcinoma strains with high (strain D) and low metastatic potential (strain C) were studied, including karyotype of chromosome, intracellular free calcium ([Ca2 +] i), morphologic changes of cell surface and the expression of nm23-H1, p53, ras, c-myc, c-erbB2, bcl-2 genes and PCNA.", "output": {"entities": {"gene": [{"text": "p53", "start": 297, "end": 300}], "disease": [{"text": "giant", "start": 46, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether vascular endothelial growth factor (VEGF) gene 5'-UTR-460 polymorphism could be used as a marker of susceptibility to endometriosis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 73, "end": 76}], "disease": [{"text": "endometriosis", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In this study we show that human melanoma cells with different metastatic potency, which do not express beta2 or beta3 integrins, express the VCAM-1 receptor alpha4beta1.", "output": {"entities": {"gene": [{"text": "beta3", "start": 113, "end": 118}], "disease": [{"text": "melanoma", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Epidemics of WEE, EEE, VEE, and SLE viruses have been recorded at periodic intervals, but prevalence of infections with LAC and CTF viruses typically are constant, related to the degree of exposure to infected vectors.", "output": {"entities": {"gene": [{"text": "LAC", "start": 120, "end": 123}], "disease": [{"text": "infections", "start": 104, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "GFAP mutations were identified in 95. 46% of Chinese children with clinically diagnosed type I AxD.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 0, "end": 4}], "disease": [{"text": "AxD", "start": 95, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 0, "end": 4}, "tail": {"text": "AxD", "start": 95, "end": 98}}]}}, "schema": []}
{"input": "Mutations in the Pit-1 gene result in insufficient expression of this factor, accounting for a form of combined pituitary hormone deficiency for growth hormone (GH), prolactin, and thyroid-stimulating hormone.", "output": {"entities": {"gene": [{"text": "Pit-1", "start": 17, "end": 22}], "disease": [{"text": "pituitary hormone deficiency", "start": 112, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "On calculating the ratios of these elevated cytokines to IL-10, however, only IL-12p70/IL-10 and TNF-alpha/IL-10 ratios were significantly elevated under hypothermic conditions.", "output": {"entities": {"gene": [{"text": "TNF", "start": 97, "end": 100}], "disease": [{"text": "hypothermic", "start": 154, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 97, "end": 100}, "tail": {"text": "hypothermic", "start": 154, "end": 165}}]}}, "schema": []}
{"input": "In each, there was an identical band corresponding to the minor cluster region breakpoint of the bcl-2 oncogene, indicating the presence of a 14; 18 translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 97, "end": 102}], "disease": [{"text": "translocation", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Cholesterol 25-hydroxylase on chromosome 10q is a susceptibility gene for sporadic Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "Cholesterol 25-hydroxylase", "start": 0, "end": 26}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The chemoresistant glioma U87/Pt cells were twofold more sensitive to STI571 growth-inhibitory effects than the chemosensitive U87 cells, and two-to threefold more sensitive than five unrelated glioma cell lines.", "output": {"entities": {"gene": [{"text": "U87", "start": 26, "end": 29}], "disease": [{"text": "glioma", "start": 19, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "We have shown that a particular sulfation pattern mediated by the expression of carbohydrate (chondroitin 4) sulfotransferase-11 (CHST11) correlates with P-selectin binding and aggressiveness of human breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "P-selectin", "start": 154, "end": 164}], "disease": [{"text": "aggressiveness", "start": 177, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Upon pharmacological treatment with demethylating agent 5-aza-2'-deoxycytidine or histone deacetylase inhibitor trichostatin A, T-cadherin promoter hypermethylation and/or histone deacetylation was frequently observed in HCC samples and cell lines.", "output": {"entities": {"gene": [{"text": "T-cadherin", "start": 128, "end": 138}], "disease": [{"text": "HCC", "start": 221, "end": 224}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "T-cadherin", "start": 128, "end": 138}, "tail": {"text": "HCC", "start": 221, "end": 224}}]}}, "schema": []}
{"input": "However, neither study assessed the impact of the recurrent activation of SOX2 in advanced primary tumors nor how SOX2 may mechanistically participate to tumor progression and aggressiveness.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 74, "end": 78}], "disease": [{"text": "aggressiveness", "start": 176, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Patients with type 1 diabetes (a TH1 disease) have been reported to be at a lower risk of developing asthma (a TH2 disease).", "output": {"entities": {"gene": [{"text": "TH1", "start": 33, "end": 36}], "disease": [{"text": "asthma", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We describe one case of recurrent early pregnancy loss with HHcy caused by B12 deficiency.", "output": {"entities": {"gene": [{"text": "B12", "start": 75, "end": 78}], "disease": [{"text": "recurrent early pregnancy loss", "start": 24, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "STUDY DESIGN: We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.", "output": {"entities": {"gene": [{"text": "CHKA", "start": 183, "end": 187}], "disease": [{"text": "endometriosis", "start": 419, "end": 432}]}, "relations": {}}, "schema": []}
{"input": "The mean values of hemoglobin (Hb) concentration, packed cell volume (PCV), mean cell hemoglobin (MCH) and mean cell volume (MCV) were significantly lower than normal controls but the mean cell hemoglobin concentration (MCHC) was the same as controls.", "output": {"entities": {"gene": [{"text": "MCH", "start": 98, "end": 101}], "disease": [{"text": "mean cell volume", "start": 107, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Disease progression is associated with variation in AAT, and low AAT levels promote atherogenesis.", "output": {"entities": {"gene": [{"text": "AAT", "start": 52, "end": 55}], "disease": [{"text": "atherogenesis", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "TRPM4 mutations account for about 6% of BrS.", "output": {"entities": {"gene": [{"text": "TRPM4", "start": 0, "end": 5}], "disease": [{"text": "BrS", "start": 40, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPM4", "start": 0, "end": 5}, "tail": {"text": "BrS", "start": 40, "end": 43}}]}}, "schema": []}
{"input": "In HCC and CCC ALR mRNA expression was also significantly enhanced compared with normal liver tissue, but expression levels did not differ from the matching non-neoplastic tissue in the same patient.", "output": {"entities": {"gene": [{"text": "HCC", "start": 3, "end": 6}], "disease": [{"text": "non-neoplastic", "start": 157, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Disruption of Rab13-mediated trafficking dramatically limits the invasive behavior of epithelial cells in vitro and the growth and migration of highly invasive cancer cells in vivo.", "output": {"entities": {"gene": [{"text": "Rab13", "start": 14, "end": 19}], "disease": [{"text": "invasive cancer", "start": 151, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to evaluate AIT-mediated anti-oxidation by focusing on anti-oxidase and mitochondrial biogenesis in rats after myocardial infarction (MI).", "output": {"entities": {"gene": [{"text": "AIT", "start": 45, "end": 48}], "disease": [{"text": "myocardial infarction", "start": 144, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "SIRT6 mRNA and protein expression were significantly lower in fetal membranes after spontaneous preterm labor.", "output": {"entities": {"gene": [{"text": "SIRT6", "start": 0, "end": 5}], "disease": [{"text": "preterm labor", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Is predisposition to pemphigus vulgaris in Jewish patients mediated by HLA-Dw10 and DR4?", "output": {"entities": {"gene": [{"text": "DR4", "start": 84, "end": 87}], "disease": [{"text": "pemphigus vulgaris", "start": 21, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, TCN prevented hypoxia-induced expression of HIF-1 target genes for vascular endothelial growth factor (VEGF) and erythropoietin.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 116, "end": 120}], "disease": [{"text": "hypoxia", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We show that the translocation t (12; 16) (q13: p11) in malignant myxoid liposarcoma can be a fusion of the CHOP dominant negative transcription factor gene with a novel gene, FUS, which can result in fusion of the FUS glycine-rich protein with the whole CHOP coding region.", "output": {"entities": {"gene": [{"text": "p11", "start": 48, "end": 51}], "disease": [{"text": "myxoid liposarcoma", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "MRI confirmed the diagnosis of isolated atrophic bilateral optic neuropathy.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "optic neuropathy", "start": 59, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "An increased level of interleukin-6 (IL-6) in the PF of patients with endometriosis suppresses NK cell cytolytic activity by down-regulating cytolytic granule components, such as granzyme B and perforin, through the modulation of Src homology region 2-containing protein tyrosine phosphatase-2 (SHP-2) expression.", "output": {"entities": {"gene": [{"text": "SHP-2", "start": 295, "end": 300}], "disease": [{"text": "endometriosis", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Mesenchyme-specific Prx-Cre-driven inactivation of Porcn produces FDH-like limb defects, while ectodermal Krt14-Cre-driven inactivation produces thin skin, alopecia, and abnormal dentition.", "output": {"entities": {"gene": [{"text": "Krt14", "start": 106, "end": 111}], "disease": [{"text": "alopecia", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Translocation t (6; 9) (p22. 3; q34) in myelodysplastic syndrome--refractory anemia with excess blasts.", "output": {"entities": {"gene": [{"text": "p22", "start": 24, "end": 27}], "disease": [{"text": "refractory anemia with excess blasts", "start": 66, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Given an EPAS1 as a potent activator of the VEGF gene, these findings will provide a novel insight into the mechanisms underlying the enhancement of growth property of EPAS1-expressing tumor cells under the hypoxic environment.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 44, "end": 48}], "disease": [{"text": "hypoxic", "start": 207, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.", "output": {"entities": {"gene": [{"text": "IHH", "start": 24, "end": 27}], "disease": [{"text": "brachydactyly type A1", "start": 40, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IHH", "start": 24, "end": 27}, "tail": {"text": "brachydactyly type A1", "start": 40, "end": 61}}]}}, "schema": []}
{"input": "ErbB3 binding protein 1 (EBP1) has been recently reported to function as a tumor suppressor in the progression of multiple cancers, including breast cancer, prostate cancer, salivary adenoid cystic carcinoma (ACC), and oral squamous cell carcinoma (OSCC).", "output": {"entities": {"gene": [{"text": "EBP1", "start": 25, "end": 29}], "disease": [{"text": "squamous cell carcinoma", "start": 224, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "We investigated the associations of three variants (rs2138533, rs11887092, and rs1800255) in the COL3A1 gene with stroke recurrence and prognosis in 1, 544 patients with three subtypes of stroke: lacunar infarction (n = 442), atherothrombotic infarction (n = 670), and hemorrhage (n = 432).", "output": {"entities": {"gene": [{"text": "COL3A1 gene", "start": 97, "end": 108}], "disease": [{"text": "hemorrhage", "start": 269, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "MT5-MMP emerges as a new pro-amyloidogenic regulator of APP metabolism, whose deficiency alleviates amyloid pathology, neuroinflammation and cognitive decline.", "output": {"entities": {"gene": [{"text": "MT5-MMP", "start": 0, "end": 7}], "disease": [{"text": "amyloid", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Risk factors of hepatitis C virus-related liver cirrhosis in young adults: positive family history of liver disease and transporter associated with antigen processing 2 (TAP2) * 0201 Allele.", "output": {"entities": {"gene": [{"text": "TAP2", "start": 170, "end": 174}], "disease": [{"text": "liver cirrhosis", "start": 42, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 157, "end": 162}], "disease": [{"text": "myoclonic jerks", "start": 62, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MECP2", "start": 157, "end": 162}, "tail": {"text": "myoclonic jerks", "start": 62, "end": 77}}]}}, "schema": []}
{"input": "The rNDV-18HL selectively replicated in orthotopic HCC xenografts leading to cHAb18 expression in situ, which induced the tumor necrosis, reduced the intrahepatic metastasis, and prolonged the survival in mice.", "output": {"entities": {"gene": [{"text": "HCC", "start": 51, "end": 54}], "disease": [{"text": "tumor necrosis", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "These results provide new evidence that ARHGEF11 may constitute a risk factor for schizophrenia.", "output": {"entities": {"gene": [{"text": "ARHGEF11", "start": 40, "end": 48}], "disease": [{"text": "schizophrenia", "start": 82, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARHGEF11", "start": 40, "end": 48}, "tail": {"text": "schizophrenia", "start": 82, "end": 95}}]}}, "schema": []}
{"input": "We found a significant correlation between lung cancer in smokers and the expression of a human gene, D40, predominantly expressed in testis and cancers.", "output": {"entities": {"gene": [{"text": "D40", "start": 102, "end": 105}], "disease": [{"text": "lung cancer", "start": 43, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we characterized adiposity and metabolic phenotypes in adult male C57BL/6J mice fed differing levels of dietary fat (10, 45, and 60% of energy) for 12 wk, concurrent with determinations of WAT inflammation markers and mRNA expression of leukocyte-derived integrins (CD11b, CD11c, CD11d) involved in macrophage extravasation and tissue macrophage homing/retention.", "output": {"entities": {"gene": [{"text": "CD11d", "start": 291, "end": 296}], "disease": [{"text": "inflammation", "start": 204, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "These results support the view that erythropoietin counteracts the effects of indometacin in inducing gastric ulcer and could be used as a an antiulcer compound.", "output": {"entities": {"gene": [{"text": "erythropoietin", "start": 36, "end": 50}], "disease": [{"text": "gastric ulcer", "start": 102, "end": 115}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "erythropoietin", "start": 36, "end": 50}, "tail": {"text": "gastric ulcer", "start": 102, "end": 115}}]}}, "schema": []}
{"input": "Further surface markers of monocytes found to be associated with cardiovascular diseases are CD18, CD11b, CXCR1, CD36 and STAB1.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 99, "end": 104}], "disease": [{"text": "cardiovascular diseases", "start": 65, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Regulation of a Notch3-Hes1 pathway and protective effect by a tocopherol-omega alkanol chain derivative in muscle atrophy.", "output": {"entities": {"gene": [{"text": "Notch3", "start": 16, "end": 22}], "disease": [{"text": "muscle atrophy", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study is to investigate the staining pattern of mIDH1R132H, an antibody specific to mutant IDH1 protein, in primary brain tumors and non-neoplastic systemic organs.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 65, "end": 69}], "disease": [{"text": "non-neoplastic", "start": 149, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Importantly, we found anti-IL-17 treatment can rescue STAT1 deficient animals from developing exacerbated metastasis to the lungs which could be important for immunotherapies for immunocompromised breast cancer patients.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 54, "end": 59}], "disease": [{"text": "metastasis", "start": 106, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT1", "start": 54, "end": 59}, "tail": {"text": "metastasis", "start": 106, "end": 116}}]}}, "schema": []}
{"input": "The p40 subunit of IL-12 (IL-12p40), but not the heterodimeric form IL-12p70, is secreted during the development of silica-induced lung fibrosis in C57BL/6 mice.", "output": {"entities": {"gene": [{"text": "p40", "start": 4, "end": 7}], "disease": [{"text": "lung fibrosis", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In addition, CXCL14 methylation in sputum from asymptomatic early-stage lung cancer cases was associated with a 2. 9-fold elevated risk for this disease compared with controls, substantiating its potential as a biomarker for early detection of lung cancer.", "output": {"entities": {"gene": [{"text": "CXCL14", "start": 13, "end": 19}], "disease": [{"text": "lung cancer", "start": 72, "end": 83}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CXCL14", "start": 13, "end": 19}, "tail": {"text": "lung cancer", "start": 72, "end": 83}}]}}, "schema": []}
{"input": "The association of HDL-C with CETP genotype was found to be independent of smoking or alcohol consumption.", "output": {"entities": {"gene": [{"text": "CETP", "start": 30, "end": 34}], "disease": [{"text": "alcohol consumption", "start": 86, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "GRIK2", "start": 40, "end": 45}], "disease": [{"text": "ovarian cancer", "start": 182, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIK2", "start": 40, "end": 45}, "tail": {"text": "ovarian cancer", "start": 182, "end": 196}}]}}, "schema": []}
{"input": "Down-regulation of TIMP3, PLAB, IGFBP3 and up-regulation of CCNB1 were observed in choriocarcinoma cells compared to placental trophoblasts.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 32, "end": 38}], "disease": [{"text": "choriocarcinoma", "start": 83, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The existence of a 196-bp allele has proved to result in a low plasma IGF-I level, a small head and chest circumference (p < 0. 05) and no significant for premature birth, short-birth height and low-birth weight.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 70, "end": 75}], "disease": [{"text": "birth weight", "start": 199, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "The lipid profile, flow mediated dilation (FMD), intima media-thickness (IMT), fibrinogen, hs-CRP, TNF-α, urine 8-iso-PGF2α, and PON1 activity were evaluated in definite time points.", "output": {"entities": {"gene": [{"text": "PON1", "start": 129, "end": 133}], "disease": [{"text": "dilation", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2).", "output": {"entities": {"gene": [{"text": "C6orf173", "start": 123, "end": 131}], "disease": [{"text": "height", "start": 23, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "As BCL2-IGH translocation represents an early step of the malignant process, we evaluated the occurrence and molecular characteristics of BCL2-IGH translocation in 56 individuals occupationally exposed to pesticides in open field farming They were selected from a representative cohort of farmers with a well-defined assessment of pesticide exposure taking into account potential confounding factors, smoking, sunlight, and age.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 3, "end": 7}], "disease": [{"text": "translocation", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "We report here that the breakpoints in four translocation patients do not interrupt the coding sequence of the TWIST gene and thus most likely act through a positional effect.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 111, "end": 116}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The PNPLA3 SNP rs738409 G allele was associated with risk of mildly elevated transaminases in GD independent of a lifestyle intervention and despite a significant reduction in insulin resistance and risk of macrosomic offspring.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 4, "end": 10}], "disease": [{"text": "insulin resistance", "start": 176, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "The effects of microinjection bilaterally into CA3 area of a PPARγ agonist, rosiglitazone or a PPARγ antagonist, GW9662 on UCP2 expression, induced superoxide anion (O (· 2) (-)) production, oxidized protein level, mitochondrial respiratory chain enzyme activities, translocation of Bcl-2, Bax and cytochrome c, and DNA fragmentation in bilateral CA3 subfields were examined.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 283, "end": 288}], "disease": [{"text": "translocation", "start": 266, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "The tyrosine kinase receptor anaplastic lymphoma kinase (ALK) and its ligand, the growth factor pleiotrophin (PTN), are highly expressed during the development of the nervous system and have been implicated in the malignant progression of different tumor types.", "output": {"entities": {"gene": [{"text": "tyrosine kinase receptor", "start": 4, "end": 28}], "disease": [{"text": "nervous system", "start": 167, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We designed mutation screening of exon 5 of CHRNA4, exon 5 of CHRNB2, and exon 6 of CHRNA2 in a group of 56 Chinese sporadic NFLE cases.", "output": {"entities": {"gene": [{"text": "CHRNB2", "start": 62, "end": 68}], "disease": [{"text": "sporadic", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Smooth muscle cell (SMC) migration and proliferation are important in the development of intimal hyperplasia, the major cause of vein graft failure.", "output": {"entities": {"gene": [{"text": "SMC", "start": 20, "end": 23}], "disease": [{"text": "intimal hyperplasia", "start": 89, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we considered that the new brief tonic seizures, which appeared only during sleep in the course of ACTH therapy, were ACTH-induced seizures.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 110, "end": 114}], "disease": [{"text": "seizures", "start": 50, "end": 58}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 110, "end": 114}, "tail": {"text": "seizures", "start": 50, "end": 58}}]}}, "schema": []}
{"input": "Upregulation of mRNAs of osteoclastogenic factors VEGF and RANKL was observed in intermittent hypoxia-exposed neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 50, "end": 54}], "disease": [{"text": "hypoxia", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Conversely, Ndufs4 restoration in the VN corrected breathing deficits and prolonged the life span of knockout mice.", "output": {"entities": {"gene": [{"text": "Ndufs4", "start": 12, "end": 18}], "disease": [{"text": "breathing", "start": 51, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Also, allele A of rs11705701 was associated with reduced amounts of the short isoform (p58) and increased levels of the long isoform (p66) of the IGF2BP2 protein in adipose tissue of non-obese diabetic and non-diabetic subjects.", "output": {"entities": {"gene": [{"text": "p66", "start": 134, "end": 137}], "disease": [{"text": "obese", "start": 187, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "DKK4", "start": 128, "end": 132}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DKK4", "start": 128, "end": 132}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "JMU-RTK-1, JMU-RTK-2, and G401 cells showed considerable aggressiveness compared with SWT-1 and SWT-2 cells (P < 0. 05).", "output": {"entities": {"gene": [{"text": "SWT", "start": 86, "end": 89}], "disease": [{"text": "aggressiveness", "start": 57, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In addition, the ALDH2 * 2 allele was also associated with the incidence of smoking-related airway obstruction, in the Cox proportional hazards model.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 17, "end": 22}], "disease": [{"text": "smoking", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "To date, 35 additional rare or private PRSS1 variants have been identified in subjects with hereditary or sporadic, idiopathic chronic pancreatitis.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 39, "end": 44}], "disease": [{"text": "sporadic", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of estrogen receptor reduces connexin 43 expression in breast cancers.", "output": {"entities": {"gene": [{"text": "connexin 43", "start": 40, "end": 51}], "disease": [{"text": "breast cancers", "start": 66, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "connexin 43", "start": 40, "end": 51}, "tail": {"text": "breast cancers", "start": 66, "end": 80}}]}}, "schema": []}
{"input": "Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).", "output": {"entities": {"gene": [{"text": "PITX3", "start": 31, "end": 36}], "disease": [{"text": "CPP4", "start": 92, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PITX3", "start": 31, "end": 36}, "tail": {"text": "CPP4", "start": 92, "end": 96}}]}}, "schema": []}
{"input": "These findings suggest that the int-1 gene may be implicated in tumorigenesis of MLS with t (12; 16) (q13; p11).", "output": {"entities": {"gene": [{"text": "p11", "start": 107, "end": 110}], "disease": [{"text": "tumorigenesis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "At 24 h, Ang-1 mRNA and protein expression within the infarct and peri-infarct regions were decreased compared to non-infarcted myocardium, whereas Ang-2 mRNA levels were markedly increased and TIE-2 expression was unchanged.", "output": {"entities": {"gene": [{"text": "TIE-2", "start": 194, "end": 199}], "disease": [{"text": "infarct", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Cyclooxygenase (COX) inhibitors have been reported to enhance 1, 25-dihydroxyvitamin D (3) (1, 25D)-induced monocytic differentiation of promyeloblastic HL60 cells, but the mechanisms of this effect are not fully elucidated, and whether this potentiation can occur in other types of myeloid leukemia is not known.", "output": {"entities": {"gene": [{"text": "COX", "start": 16, "end": 19}], "disease": [{"text": "myeloid leukemia", "start": 283, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "In this study, we have genotyped 6 uncoupling protein 3 (UCP-3) polymorphisms (-55C/T, Int2-143G/C, Tyr99Tyr, Int3-47G/A, Int4-498C/T, and Tyr210Tyr) among 214 overweight Korean female subjects recruited from an obesity clinic.", "output": {"entities": {"gene": [{"text": "Int2", "start": 87, "end": 91}], "disease": [{"text": "overweight", "start": 160, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Radiogenomic mapping of edema/cellular invasion MRI-phenotypes in glioblastoma multiforme.", "output": {"entities": {"gene": [{"text": "MRI", "start": 48, "end": 51}], "disease": [{"text": "glioblastoma multiforme", "start": 66, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "On the basis of the detection of JAK2, CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations in myelodysplastic/myeloproliferative neoplasms, we hypothesized that they may also contribute to progression in CML.", "output": {"entities": {"gene": [{"text": "CBLB", "start": 44, "end": 48}], "disease": [{"text": "myelodysplastic/myeloproliferative neoplasms", "start": 87, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "However, the genes that NR0B1 regulates and the transcription factors it interacts with in Ewing' s sarcoma are largely unknown.", "output": {"entities": {"gene": [{"text": "NR0B1", "start": 24, "end": 29}], "disease": [{"text": "sarcoma", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.", "output": {"entities": {"gene": [{"text": "cytochrome b5 reductase", "start": 5, "end": 28}], "disease": [{"text": "congenital methaemoglobinaemia", "start": 64, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cytochrome b5 reductase", "start": 5, "end": 28}, "tail": {"text": "congenital methaemoglobinaemia", "start": 64, "end": 94}}]}}, "schema": []}
{"input": "Stargardt disease is a common inherited macular degeneration characterized by a significant loss in central vision in the first or second decade of life, bilateral atrophic changes in the central retina associated with degeneration of photoreceptors and underlying retinal pigment epithelial cells, and the presence of yellow flecks extending from the macula.", "output": {"entities": {"gene": [{"text": "Stargardt disease", "start": 0, "end": 17}], "disease": [{"text": "atrophic", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "To better define the role of VEGF in edema, we examined the effectiveness of a novel small molecule KDR kinase inhibitor Compound-1 in reducing edema and infarct volume following focal cerebral ischemia in studies utilizing treatment regimens initiated both pre-and post-ischemia, and with study durations of 24-72 h. Rats were subjected to 90 min of middle cerebral artery occlusion (MCAO) followed by reperfusion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 29, "end": 33}], "disease": [{"text": "infarct", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "The syndrome is characterized by mild or moderate hypercalcemia, hypocalciuria, and normal or slightly increased levels of parathormone.", "output": {"entities": {"gene": [{"text": "parathormone", "start": 123, "end": 135}], "disease": [{"text": "mild", "start": 33, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In the case for which FL and DLL cells showed different bcl-2/IgH junctional sequences, DLL cells incorporated larger bcl-2 and Ig-joining (JH) gene fragments than the corresponding FL cells, suggesting that DLL clones developed by a distinct t (14; 18) translocation rather than by alteration of the hybrid bcl-2/IgH gene detected in the FL cells.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 56, "end": 61}], "disease": [{"text": "translocation", "start": 254, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Therefore, to correctly establish MGMT expression in the tumor, which could be informative of glioma sensitivity to alkylating agents, exclusion of non-neoplastic brain components from analysis is required.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 34, "end": 38}], "disease": [{"text": "non-neoplastic", "start": 148, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The study of 12 cases (the 7 cases described here and the previous 5 cases) strongly supports the hypothesis that hemophagocytosis by leukemic blasts is common and characteristic in this type of leukemia, which may be related to the specific chromosome aberration of t (16; 21) (p11; q22).", "output": {"entities": {"gene": [{"text": "p11", "start": 279, "end": 282}], "disease": [{"text": "chromosome aberration", "start": 242, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "The most frequent chromosome translocation associated with MALT lymphoma is t (11; 18) (q21; q21), which generates a chimeric protein of c-IAP2 and MALT1/paracaspase.", "output": {"entities": {"gene": [{"text": "paracaspase", "start": 154, "end": 165}], "disease": [{"text": "chromosome translocation", "start": 18, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "We investigated alterations in AP-PCR DNA profiles of 30 glioma patients, and detected specific changes in 11 genes not previously associated with this disease: LHFPL3, SGCG, HTR4, ITGB1, CPS1, PROS1, GP2, KCNG2, PDE4D, KIR3DL3, and INPP5A.", "output": {"entities": {"gene": [{"text": "PROS1", "start": 194, "end": 199}], "disease": [{"text": "glioma", "start": 57, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Patterns of allele loss (loss of heterozygosity, LOH) have been studied in order to investigate the genetic pathways involved in the pathogenesis of three types of colorectal cancer (CRC): sporadic CRC without replication errors (RER-) (32 cases); sporadic RER + CRC (23 cases); and ulcerative colitis-associated CRC (UCACRC) (16 cases).", "output": {"entities": {"gene": [{"text": "RER", "start": 230, "end": 233}], "disease": [{"text": "ulcerative colitis", "start": 283, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "Two of the three rare variants were recurrent, located in the GCM2 CCID, and found in seven of the 40 (18%) kindreds with FIHP.", "output": {"entities": {"gene": [{"text": "GCM2", "start": 62, "end": 66}], "disease": [{"text": "FIHP", "start": 122, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GCM2", "start": 62, "end": 66}, "tail": {"text": "FIHP", "start": 122, "end": 126}}]}}, "schema": []}
{"input": "Up-regulation of TWEAK/Fn14 and hypoxia and ER stress surrogate gene expression was observed in sc and visceral adipose tissue only in our severely obese cohort.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 17, "end": 22}], "disease": [{"text": "hypoxia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Lynch syndrome (LS) is clinically defined by the Amsterdam criteria (AC) and by germline mutations in mismatch-repair (MMR) genes leading to microsatellite instability (MSI) at the molecular level.", "output": {"entities": {"gene": [{"text": "MMR", "start": 119, "end": 122}], "disease": [{"text": "microsatellite instability", "start": 141, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The VGLUT1 reduction was highly correlated with the degree of cognitive impairment, assessed with the clinical dementia rating (CDR) score.", "output": {"entities": {"gene": [{"text": "VGLUT1", "start": 4, "end": 10}], "disease": [{"text": "cognitive impairment", "start": 62, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "One of the symptoms of patients with POU1F1 mutations is hypothyroidism and abnormalities of the nervous system early in the period after birth.", "output": {"entities": {"gene": [{"text": "POU1F1", "start": 37, "end": 43}], "disease": [{"text": "nervous system", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Expression of NTS/NTSR1 on breast tumoral cells creates a cellular context associated with cancer aggressiveness by enhancing epidermal growth factor receptor activity.", "output": {"entities": {"gene": [{"text": "NTSR1", "start": 18, "end": 23}], "disease": [{"text": "aggressiveness", "start": 98, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that somatic MEN1 gene mutations contribute to a subset of sporadic EPT and NET, including midgut tumors.", "output": {"entities": {"gene": [{"text": "NET", "start": 94, "end": 97}], "disease": [{"text": "sporadic", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss.", "output": {"entities": {"gene": [{"text": "CDH23", "start": 49, "end": 54}], "disease": [{"text": "USH1D", "start": 86, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDH23", "start": 49, "end": 54}, "tail": {"text": "USH1D", "start": 86, "end": 91}}]}}, "schema": []}
{"input": "Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.", "output": {"entities": {"gene": [{"text": "catalase", "start": 7, "end": 15}], "disease": [{"text": "acatalasemia", "start": 71, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "catalase", "start": 7, "end": 15}, "tail": {"text": "acatalasemia", "start": 71, "end": 83}}]}}, "schema": []}
{"input": "Haplotype trend regression analyses revealed that carriers of S12 haplotype had lower sociability-related traits such as Extraversion (EPI) and Novelty Seeking (TCI), whereas Harm Avoidance (TCI) (anxiety-related trait) was higher.", "output": {"entities": {"gene": [{"text": "TCI", "start": 161, "end": 164}], "disease": [{"text": "anxiety", "start": 197, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Bortezomib induces caspase-dependent apoptosis in Hodgkin lymphoma cell lines and is associated with reduced c-FLIP expression: a gene expression profiling study with implications for potential combination therapies.", "output": {"entities": {"gene": [{"text": "c-FLIP", "start": 109, "end": 115}], "disease": [{"text": "Hodgkin lymphoma", "start": 50, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "c-FLIP", "start": 109, "end": 115}, "tail": {"text": "Hodgkin lymphoma", "start": 50, "end": 66}}]}}, "schema": []}
{"input": "As DRB1 (*) 03 frequency, but not the closely linked TNFA-308 (*) 2, was decreased, this suggests recombination between the DRB1 and TNFA loci in this group of patients, and may help to define the biological basis of fistula formation.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 3, "end": 7}], "disease": [{"text": "fistula", "start": 217, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Neutrophil alkaline phosphatase (NAP) score in the diagnosis of hypophosphatasia.", "output": {"entities": {"gene": [{"text": "NAP", "start": 33, "end": 36}], "disease": [{"text": "hypophosphatasia", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "HLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were implicated in susceptibility to asthma and atopy, HLA-DQA1 * 0301 allele and HLA-DQB1 * 0301 might be protective factor against asthma.", "output": {"entities": {"gene": [{"text": "HLA-DQB1", "start": 27, "end": 35}], "disease": [{"text": "atopy", "start": 98, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Hereditary cystathioninuria (MIM 219500) is presumed to be caused by deficiency of the activity of cystathionine gamma-lyase (cystathionase; CTH EC 4. 4. 1. 1), which is normally required for the conversion of methionine into cysteine.", "output": {"entities": {"gene": [{"text": "MIM", "start": 29, "end": 32}], "disease": [{"text": "cystathioninuria", "start": 11, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Melatonin (MLT) is a pleiotropic neurohormone controlling many physiological processes and whose dysfunction may contribute to several different diseases, such as neurodegenerative diseases, circadian and mood disorders, insomnia, type 2 diabetes and pain.", "output": {"entities": {"gene": [{"text": "MLT", "start": 11, "end": 14}], "disease": [{"text": "insomnia", "start": 221, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Newly reported p. Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.", "output": {"entities": {"gene": [{"text": "UBIAD1", "start": 40, "end": 46}], "disease": [{"text": "Schnyder corneal dystrophy", "start": 106, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBIAD1", "start": 40, "end": 46}, "tail": {"text": "Schnyder corneal dystrophy", "start": 106, "end": 132}}]}}, "schema": []}
{"input": "The administration of adenovirus-mediated RNAi and an atelocollagen/siRNA mixture against endogenous DUSP21 significantly suppressed xenograft HCC tumors in mice.", "output": {"entities": {"gene": [{"text": "DUSP21", "start": 101, "end": 107}], "disease": [{"text": "tumors", "start": 147, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to explore the roles of RPS13 and RPL23 in multidrug resistance (MDR) in gastric cancer cells.", "output": {"entities": {"gene": [{"text": "RPL23", "start": 60, "end": 65}], "disease": [{"text": "gastric cancer", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In this study, the COX-2 constitutive expression vector was transfected into a human lung adenocarcinoma cell line CL1. 0 and several clones were obtained which stably expressed COX-2.", "output": {"entities": {"gene": [{"text": "CL1", "start": 115, "end": 118}], "disease": [{"text": "lung adenocarcinoma", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Together, we conclude that p54 (nrb) is a novel regulator of SREBP-1a in the nucleus, and our data suggest that p54 (nrb) regulation of SREBP-1a supports the increased cellular demand of lipids for breast cancer growth.", "output": {"entities": {"gene": [{"text": "p54", "start": 27, "end": 30}], "disease": [{"text": "breast cancer", "start": 198, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "One of the five families we studied did not link to PLA2G6 locus, and in the family one of the two affected siblings additionally had atypical features including facial dysmorphism, pectus carinatum, scoliosis, pes varus, zygodactyly and bilateral cryptorchidism as well as cerebellar atrophy, as previously reported.", "output": {"entities": {"gene": [{"text": "PLA2G6", "start": 52, "end": 58}], "disease": [{"text": "pectus carinatum", "start": 182, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "We also observed that restoration of BRCA1 function stabilizes the genome compared with mutant BRCA1 that results in enhanced polyploid population after combination treatment with HDACi and PARPi.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 37, "end": 42}], "disease": [{"text": "polyploid", "start": 126, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "PRG1, IL-10, CD68, IL-23a, and IL-12a expression in noncancerous tissue, and PRG1, ANXA1, IL-23a, IL-17a, FOXP3, and HLA-DRA expression in tumor tissues were associated with poor prognosis based on Cox regression (/Z-score/> 1. 5) and were used to generate the inflammatory risk score (IRS).", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 106, "end": 111}], "disease": [{"text": "regression", "start": 202, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Ectopic nuclear bcl-10 expression is associated with API2-MALT1 but may also be seen in IGH-MALT1 fusion-positive, aneuploidy-only, and normal cases.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 58, "end": 63}], "disease": [{"text": "aneuploidy", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "An HLA study suggested that DPB1 * 0301 is a strong genetic marker for AIA, and that HLA DRB1 * 1302 and DQB1 * 0609 are markers for AIU susceptibility.", "output": {"entities": {"gene": [{"text": "DPB1", "start": 28, "end": 32}], "disease": [{"text": "AIA", "start": 71, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPB1", "start": 28, "end": 32}, "tail": {"text": "AIA", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "In addition, IP6 prevents the translocation of TERT to the nucleus.", "output": {"entities": {"gene": [{"text": "TERT", "start": 47, "end": 51}], "disease": [{"text": "translocation", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We have previously mapped the translocation breakpoints of t (8; 21) in a specific intron of the AML1 gene on chromosome 21.", "output": {"entities": {"gene": [{"text": "AML1", "start": 97, "end": 101}], "disease": [{"text": "translocation", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The total MRI score and MRI erosion score increased significantly from baseline to one year despite falls in clinical measures of inflammation including erythrocyte sedimentation rate (ESR), C reactive protein (CRP), and swollen joint count (p < 0. 01 for all).", "output": {"entities": {"gene": [{"text": "MRI", "start": 10, "end": 13}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 153, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Normoxic and hypoxic regulation of vascular endothelial growth factor (VEGF) by astrocytoma cells is mediated by Ras.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 71, "end": 75}], "disease": [{"text": "hypoxic", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "The odds ratio for the risk of intrauterine fetal growth restriction, defined as birth weight < 10th percentile or < mean-1. 5 SD, in women homozygous for COMT-L alleles was 2. 63/2. 57 (95% confidence interval, 1. 14-6. 05/0. 96-6. 88).", "output": {"entities": {"gene": [{"text": "COMT", "start": 155, "end": 159}], "disease": [{"text": "birth weight", "start": 81, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The expression of the transcriptional regulators activating transcription factor-1 (ATF-1) and cAMP-responsive element (CRE)-binding protein (CREB) is upregulated in metastatic melanoma cells.", "output": {"entities": {"gene": [{"text": "CREB", "start": 142, "end": 146}], "disease": [{"text": "metastatic melanoma", "start": 166, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Although approximately 200 different mutations of the gp91-phox gene have been reported, no precise study of the proportion of sporadic cases in X-CGD, based on molecular genetic analysis, has been reported.", "output": {"entities": {"gene": [{"text": "gp91-phox", "start": 54, "end": 63}], "disease": [{"text": "X-CGD", "start": 145, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gp91-phox", "start": 54, "end": 63}, "tail": {"text": "X-CGD", "start": 145, "end": 150}}]}}, "schema": []}
{"input": "A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).", "output": {"entities": {"gene": [{"text": "POU3F4", "start": 22, "end": 28}], "disease": [{"text": "DFN3", "start": 85, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POU3F4", "start": 22, "end": 28}, "tail": {"text": "DFN3", "start": 85, "end": 89}}]}}, "schema": []}
{"input": "The heat-denatured p24 antigen assay was capable of measuring the plasma level of p24 derived from all the HIV-1 subtypes and recombinants selected for this study, in contrast to the RNA viral load test which lacked sensitivity towards HIV-1 group O.", "output": {"entities": {"gene": [{"text": "p24", "start": 19, "end": 22}], "disease": [{"text": "viral load", "start": 187, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma.", "output": {"entities": {"gene": [{"text": "GATA3", "start": 199, "end": 204}], "disease": [{"text": "neuroblastoma", "start": 326, "end": 339}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GATA3", "start": 199, "end": 204}, "tail": {"text": "neuroblastoma", "start": 326, "end": 339}}]}}, "schema": []}
{"input": "We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS.", "output": {"entities": {"gene": [{"text": "HOXA13", "start": 27, "end": 33}], "disease": [{"text": "HFGS", "start": 100, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXA13", "start": 27, "end": 33}, "tail": {"text": "HFGS", "start": 100, "end": 104}}]}}, "schema": []}
{"input": "Here, we report that estrogen and estrogen metabolites can cause DNA double-strand breaks (DSB) in estrogen receptor-α-negative breast cells and that BRCA1 is required to repair these DSBs to prevent metabolite-induced genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 150, "end": 155}], "disease": [{"text": "genomic instability", "start": 219, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Both complement and the immunoglobulins are concerned with humoral immunity and the report of an association between a phenotype of the IgG heavy chain markers on chromosome 14 and retinopathy is of particular interest.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 140, "end": 151}], "disease": [{"text": "retinopathy", "start": 181, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.", "output": {"entities": {"gene": [{"text": "Laforin", "start": 0, "end": 7}], "disease": [{"text": "Lafora disease", "start": 46, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Laforin", "start": 0, "end": 7}, "tail": {"text": "Lafora disease", "start": 46, "end": 60}}]}}, "schema": []}
{"input": "Confirmatory MANCOVA revealed reliable miR-100, miR-146a and miR-1274a as differentially expressed in AD reaching Bonferroni corrected significance.", "output": {"entities": {"gene": [{"text": "miR-100", "start": 39, "end": 46}], "disease": [{"text": "AD", "start": 102, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-100", "start": 39, "end": 46}, "tail": {"text": "AD", "start": 102, "end": 104}}]}}, "schema": []}
{"input": "Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.", "output": {"entities": {"gene": [{"text": "GDF6", "start": 13, "end": 17}], "disease": [{"text": "Klippel-Feil syndrome", "start": 72, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GDF6", "start": 13, "end": 17}, "tail": {"text": "Klippel-Feil syndrome", "start": 72, "end": 93}}]}}, "schema": []}
{"input": "We hypothesize that the inability of HCCS-deficient cells to undergo cytochrome c-mediated apoptosis may push cell death toward necrosis that gives rise to severe deterioration of the affected tissues.", "output": {"entities": {"gene": [{"text": "HCCS", "start": 37, "end": 41}], "disease": [{"text": "necrosis", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Atp7a is required for these copper-dependent effects: Hippocampal neurons isolated from newborn Mo (br) mice reveal a marked sensitivity to endogenous glutamate-mediated NMDA receptor-dependent excitotoxicity in vitro, and mild hypoxic/ischemic insult to these mice in vivo results in significantly increased caspase 3 activation and neuronal injury.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 309, "end": 318}], "disease": [{"text": "mild", "start": 223, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Serum triglyceride (TG), fasting plasma glucose (FPG), postprandial plasma glucose (PPG), fasting serum insulin (FINs), glycated hemoglobin (HbAlc), postprandial serum insulin (PINS), homeostasis model assessment for insulin resistance (HOMA-IR), low-density lipoprotein-cholesterol (LDL-c), and high-density lipoprotein-cholesterol (HDL-c) were determined before and after rosiglitazone treatment.", "output": {"entities": {"gene": [{"text": "PINS", "start": 177, "end": 181}], "disease": [{"text": "insulin resistance", "start": 217, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that hypoxia and REDD1 suppress mammalian TORC1 (mTORC1) activity by releasing TSC2 from its growth factor-induced association with inhibitory 14-3-3 proteins.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 100, "end": 104}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "To assess NMB function, proliferation was determined in the nonmalignant human colonic epithelial cell line NCM-460 and in the colon cancer cell lines Caco-2 and HT-29.", "output": {"entities": {"gene": [{"text": "NCM", "start": 108, "end": 111}], "disease": [{"text": "colon cancer", "start": 127, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Although CEBPA mutations are among the most common genetic abnormalities in acute myeloid leukemia (AML), the transformation mechanism remains largely obscure.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 9, "end": 14}], "disease": [{"text": "abnormalities", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Results from these studies suggest that TPA-induced microtubule reorganization is a prerequisite for integrin vesicle translocation in U937 cells and that vesicle translocation to the plasma membrane may be a prerequisite for the transcriptional activation of cd11b and cd11c integrin genes in the early stages of monocyte differentiation.", "output": {"entities": {"gene": [{"text": "cd11b", "start": 260, "end": 265}], "disease": [{"text": "vesicle", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "By contrast, a significant reduction was observed in levels of glutathione synthetase (P & lt; 0. 01), glutathione-S-transferase mu2 (P & lt; 0. 01), glutathione-S-transferase p (P & lt; 0. 05), antioxidant protein 2 (P & lt; 0. 05), thioredoxin peroxidase-I (P & lt; 0. 05) and thioredoxin peroxidase-II (P & lt; 0. 01) in DS compared with controls.", "output": {"entities": {"gene": [{"text": "thioredoxin peroxidase-I", "start": 234, "end": 258}], "disease": [{"text": "DS", "start": 324, "end": 326}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "thioredoxin peroxidase-I", "start": 234, "end": 258}, "tail": {"text": "DS", "start": 324, "end": 326}}]}}, "schema": []}
{"input": "Phylogenetic sequence analysis techniques were applied, which showed functional relationships between LGI1 and TRK and SLIT protein families that are known to be involved in development and maintenance of the nervous system.", "output": {"entities": {"gene": [{"text": "TRK", "start": 111, "end": 114}], "disease": [{"text": "nervous system", "start": 209, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "As a result, an increased level of OGT and MGEA5 mRNA was related to larger tumor size, nodal metastases, higher grade and tumor behavior according to TFG scale, as well as incidence of disease recurrence (p < 0. 05).", "output": {"entities": {"gene": [{"text": "TFG", "start": 151, "end": 154}], "disease": [{"text": "metastases", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Here we refine the CORD5 locus previously mapped to 17p13 from 27 to 14. 3 cM and identified a missense mutation, Q626H in the phosphatidylinositol transfer (PIT) membrane-associated protein (PITPNM3) (MIM 608921) in two Swedish families.", "output": {"entities": {"gene": [{"text": "PITPNM3", "start": 192, "end": 199}], "disease": [{"text": "CORD5", "start": 19, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PITPNM3", "start": 192, "end": 199}, "tail": {"text": "CORD5", "start": 19, "end": 24}}]}}, "schema": []}
{"input": "We identified three mutations of TBX1 in two unrelated patients without the 22q11. 2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge' s syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome.", "output": {"entities": {"gene": [{"text": "TBX1", "start": 33, "end": 37}], "disease": [{"text": "DiGeorge' s syndrome", "start": 194, "end": 214}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX1", "start": 33, "end": 37}, "tail": {"text": "DiGeorge' s syndrome", "start": 194, "end": 214}}]}}, "schema": []}
{"input": "Most patients with NCL have progressive ocular and cerebral dysfunction, including cognitive/motor dysfunction and uncontrolled seizures.", "output": {"entities": {"gene": [{"text": "NCL", "start": 19, "end": 22}], "disease": [{"text": "seizures", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that, in keeping with its role as a mediator of innate immunity, NGAL may have a central role to play in IAI-induced preterm birth.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 84, "end": 88}], "disease": [{"text": "preterm birth", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 0, "end": 7}], "disease": [{"text": "stuttering", "start": 266, "end": 276}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNTNAP2", "start": 0, "end": 7}, "tail": {"text": "stuttering", "start": 266, "end": 276}}]}}, "schema": []}
{"input": "We describe a case of CHN that presented with neonatal hypotonia and a progressive downhill clinical course, developing cranial nerve dysfunction, and respiratory failure.", "output": {"entities": {"gene": [{"text": "CHN", "start": 22, "end": 25}], "disease": [{"text": "respiratory failure", "start": 151, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we sequenced all 15 exons of FUS in 152 familial probands with Essential Tremor and genotyped three reported FUS variants in 112 sporadic Essential Tremor patients and 716 control subjects recruited at Mayo Clinic Florida.", "output": {"entities": {"gene": [{"text": "FUS", "start": 51, "end": 54}], "disease": [{"text": "sporadic", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Substrate specificity was restricted to glycoproteins rich in O-linked glycans, including CD43, CD44, CD45, CD93, CD162 (PSGL-1; P-selectin glycoprotein ligand 1), and the surface-attached chemokine fractalkine, all implicated in leukocyte trafficking, migration, and inflammation.", "output": {"entities": {"gene": [{"text": "CD45", "start": 102, "end": 106}], "disease": [{"text": "inflammation", "start": 268, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "The feed-forward loop engaged by hypoxia involves first an HIF-1-dependent vascular endothelial growth factor-A (VEGF-A) autocrine production and, in the later phase, activation of NADPH oxidase from VEGF/VEGFR2 interaction, finally leading to a further redox-dependent long lasting stabilization of HIF-1.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 113, "end": 117}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Studies of site-directed in vitro mutagenesis have confirmed that this mutation generates inactive lipoprotein lipase and is the cause of lipoprotein lipase deficiency.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 99, "end": 117}], "disease": [{"text": "lipoprotein lipase deficiency", "start": 138, "end": 167}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 99, "end": 117}, "tail": {"text": "lipoprotein lipase deficiency", "start": 138, "end": 167}}]}}, "schema": []}
{"input": "We evaluated the expression of genes encoding selected inflammatory factors in post-mortem specimen of adult TS patients: interferon-γ (a cytokine released from CD8 and Thelper 1 CD4 subset of T lymphocytes), interleukin-2 (IL-2, a growth factor derived from T lymphocytes), interleukin-1 β (a cytokine involved in initiation of inflammation), monocyte chemotactic factor-1 (MCP-1, a marker of chronic inflammation) and CD45 (pan-leukocytic marker).", "output": {"entities": {"gene": [{"text": "CD45", "start": 420, "end": 424}], "disease": [{"text": "inflammation", "start": 329, "end": 341}]}, "relations": {}}, "schema": []}
{"input": "An association of NOS1 with mood disorders, suggested by animal models, is less clear on the genetic level; however, NO metabolites in blood may serve as biomarkers for major depression and bipolar disorder.", "output": {"entities": {"gene": [{"text": "NOS1", "start": 18, "end": 22}], "disease": [{"text": "major depression", "start": 169, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).", "output": {"entities": {"gene": [{"text": "ACTA1", "start": 79, "end": 84}], "disease": [{"text": "Zebra body myopathy", "start": 0, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACTA1", "start": 79, "end": 84}, "tail": {"text": "Zebra body myopathy", "start": 0, "end": 19}}]}}, "schema": []}
{"input": "Serum ZAG concentrations analyzed by enzyme-linked immunoassay were positively correlated with systolic and diastolic blood pressure in 326 subjects (236 males and 90 females) aged 17-79 years who had an annual health examination.", "output": {"entities": {"gene": [{"text": "ZAG", "start": 6, "end": 9}], "disease": [{"text": "diastolic blood pressure", "start": 108, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aimed to examine the enhanced antitumor activity of adenovirus-mediated IL-24/OSM tumor suppressor gene cotransfer in human melanoma cells.", "output": {"entities": {"gene": [{"text": "OSM", "start": 96, "end": 99}], "disease": [{"text": "melanoma", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Enhancement of susceptibility to diverse skin tumor promoters by activation of the insulin-like growth factor-1 receptor in the epidermis of transgenic mice.", "output": {"entities": {"gene": [{"text": "insulin-like growth factor-1 receptor", "start": 83, "end": 120}], "disease": [{"text": "skin tumor", "start": 41, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "insulin-like growth factor-1 receptor", "start": 83, "end": 120}, "tail": {"text": "skin tumor", "start": 41, "end": 51}}]}}, "schema": []}
{"input": "In both families, genetic mapping and sequence analysis of candidate genes led to the identification of two novel homozygous mutations (IVS4-2A & gt; G and R124S, respectively) in GLUT2, the gene mutated in Fanconi-Bickel syndrome, a rare disease usually characterized by renal tubulopathy, impaired glucose homeostasis, and hepatomegaly.", "output": {"entities": {"gene": [{"text": "GLUT2", "start": 180, "end": 185}], "disease": [{"text": "Fanconi-Bickel syndrome", "start": 207, "end": 230}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT2", "start": 180, "end": 185}, "tail": {"text": "Fanconi-Bickel syndrome", "start": 207, "end": 230}}]}}, "schema": []}
{"input": "Thus, GDNF gene therapy may ameliorate the consequences of Parkinson' s disease through rescuing compromised dopaminergic neurons.", "output": {"entities": {"gene": [{"text": "GDNF", "start": 6, "end": 10}], "disease": [{"text": "Parkinson' s disease", "start": 59, "end": 79}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GDNF", "start": 6, "end": 10}, "tail": {"text": "Parkinson' s disease", "start": 59, "end": 79}}]}}, "schema": []}
{"input": "We constructed a replication-defective recombinant adenovirus harboring human decorin gene (AdCMV. DC) and administered 1 x l0 (9) plaque-forming units of AdCMV. DC intratracheally or intravenously to C57BL/6 mice with intraperitoneal injection of bleomycin, which induces a subpleural fibroproliferation, mimicking UIP, by day 28.", "output": {"entities": {"gene": [{"text": "decorin gene", "start": 78, "end": 90}], "disease": [{"text": "adenovirus", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) is a crucial step in tumor progression and has an important role during cancer invasion and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 61, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Intratumoral or subcutaneous (away from the tumor site) injections of purified epidermal growth factor receptor-related protein caused regression of palpable colon cancer xenograft tumors in some severely compromised immunodeficient mice and arrested tumor growth in others.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 79, "end": 111}], "disease": [{"text": "regression", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Postischemic loss of VE-cadherin, occludin, and zona occludens-1 in SphK2-null mice with prior HPC suggests that SphK2-dependent protection of these adherens and tight junction proteins is compulsory for HPC to establish a vasculoprotective phenotype.", "output": {"entities": {"gene": [{"text": "SphK2", "start": 68, "end": 73}], "disease": [{"text": "zona", "start": 48, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We postulate that deficiency of TKFC causes disruption of endogenous fructose metabolism leading to generation of by-products that can cause cataract.", "output": {"entities": {"gene": [{"text": "TKFC", "start": 32, "end": 36}], "disease": [{"text": "cataract", "start": 141, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TKFC", "start": 32, "end": 36}, "tail": {"text": "cataract", "start": 141, "end": 149}}]}}, "schema": []}
{"input": "Here we analyse, on a larger panel of short-term cultures derived from melanoma-invaded lymph nodes, other mechanisms potentially implicated in OSM resistance.", "output": {"entities": {"gene": [{"text": "OSM", "start": 144, "end": 147}], "disease": [{"text": "melanoma", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In summary, we found that liver transplant recipients with IL-28B CC tended to have less advanced fibrosis prior to and significantly less after SOC treatment and that all recipients with IL-28B CC who achieved SVR had mild fibrosis at follow-up.", "output": {"entities": {"gene": [{"text": "IL-28B", "start": 59, "end": 65}], "disease": [{"text": "mild", "start": 219, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Three out of five previously mapped translocation breakpoints in multiple myeloma are also located within the FOR gene.", "output": {"entities": {"gene": [{"text": "FOR", "start": 110, "end": 113}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The PlA2 polymorphism is an independent risk factor for acute renal graft rejection, affecting short-term graft survival.", "output": {"entities": {"gene": [{"text": "PlA2", "start": 4, "end": 8}], "disease": [{"text": "graft rejection", "start": 68, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The ANK protein spans the outer cell membrane and shuttles inorganic pyrophosphate (PPi), a major inhibitor of physiologic and pathologic calcification, bone mineralization and bone resorption.", "output": {"entities": {"gene": [{"text": "ANK", "start": 4, "end": 7}], "disease": [{"text": "bone resorption", "start": 177, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "These data show that long-term PDE5A treatment corrected CVOD in the aged rat and partially reversed the aging-related fibrosis and loss of SMC in the corpora cavernosa without affecting TGFB1 or PTPN11 levels, which are markers of oxidative stress.", "output": {"entities": {"gene": [{"text": "SMC", "start": 140, "end": 143}], "disease": [{"text": "aging", "start": 105, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The molecular facet of this translocation is represented by the formation of a new hybrid gene, the AML1-ETO, which is regularly transcribed in a chimaeric mRNA and translated into a new fusion protein believed to have a key role in the pathogenesis of this type of leukaemia.", "output": {"entities": {"gene": [{"text": "AML1", "start": 100, "end": 104}], "disease": [{"text": "translocation", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Three cases of the recently described translocation, t (7; 21) (p22; q22), were identified, which expressed RUNX1-USP42 (ubiquitin-specific protease 42) fusion transcripts, associated with 5q abnormalities and hyperploidy.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 108, "end": 113}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "To identify the translocation partners, these cases were further studied with probes for the MYC, BCL2, BCL6, BCL3, REL/BCL11A, JAK2/PDCD1LG2 (alias PDL2) C14orf43, and C2TA loci.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 98, "end": 102}], "disease": [{"text": "translocation", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "In contrast, in patients with liver diseases, decreased protein S, but normal or increased levels of TFPI have been reported.", "output": {"entities": {"gene": [{"text": "TFPI", "start": 101, "end": 105}], "disease": [{"text": "liver diseases", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "ANOVA on blood pressure values after adjustment for covariates [age, body mass index (BMI), contraceptive pill, tobacco and alcohol] showed that lipoprotein lipase (LPL) Ser447Ter and glycoprotein IIIA (GpIIIa) Pl polymorphisms were significantly associated with BP in women (0. 01 < or = P < or = 0. 05), whereas BP levels in men were significantly different according to apolipoprotein CIII (APOC3) 3206T/G and-482C/T polymorphisms (P < or = 0. 05).", "output": {"entities": {"gene": [{"text": "APOC3", "start": 394, "end": 399}], "disease": [{"text": "body mass index", "start": 69, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Elevated mutation rates (mutator phenotype), including simple repeat instability [microsatellite instability (MSI)] are a signature of MMR defects.", "output": {"entities": {"gene": [{"text": "MMR", "start": 135, "end": 138}], "disease": [{"text": "microsatellite instability", "start": 82, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We then examined whether exposure to formula feeding, bacterial inoculation, cold stress and/or intermittent hypoxia affected intestinal VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 137, "end": 141}], "disease": [{"text": "hypoxia", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "CL1-5 and A549 human lung adenocarcinoma cells were stably transfected with vectors containing CTGF or hypoxia-inducible factor (HIF) 1alpha or with vector controls.", "output": {"entities": {"gene": [{"text": "CL1", "start": 0, "end": 3}], "disease": [{"text": "lung adenocarcinoma", "start": 21, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "FTO expression in subcutaneous adipose tissue negatively correlates with obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "FTO", "start": 0, "end": 3}], "disease": [{"text": "insulin resistance", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Non-small cell lung carcinoma overexpressed VEGF and NP1 and NP2 significantly more often than neuroendocrine tumours including small cell lung carcinoma.", "output": {"entities": {"gene": [{"text": "NP2", "start": 61, "end": 64}], "disease": [{"text": "small cell lung carcinoma", "start": 4, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p. Cys120Arg allele represents a recessive and more severe form of Cole disease.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 36, "end": 41}], "disease": [{"text": "Cole disease", "start": 240, "end": 252}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ENPP1", "start": 36, "end": 41}, "tail": {"text": "Cole disease", "start": 240, "end": 252}}]}}, "schema": []}
{"input": "PUFA metabolites extracted from IBS biopsies or colons of mice with visceral hypersensitivity activated mouse sensory neurons in vitro, by activating TRPV4.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 150, "end": 155}], "disease": [{"text": "hypersensitivity", "start": 77, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Elevations in the level of CD40, degree of brain edema and NSS after TBI were significantly reduced in TBI + AG490 group.", "output": {"entities": {"gene": [{"text": "CD40", "start": 27, "end": 31}], "disease": [{"text": "brain edema", "start": 43, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated marvelD3 expression in well and poorly differentiated human pancreatic cancer cell lines and normal pancreatic duct epithelial cells in which the hTERT gene was introduced into human pancreatic duct epithelial cells in primary culture, and the changes of marvelD3 during Snail-induced epithelial-mesenchymal transition (EMT) under hypoxia, TGF-β treatment and knockdown of FOXA2 in well differentiated pancreatic cancer HPAC cells.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 378, "end": 383}], "disease": [{"text": "hypoxia", "start": 369, "end": 376}]}, "relations": {}}, "schema": []}
{"input": "A subgroup of elderly patients with depressive symptoms, cognitive impairment, and a high likelihood of experiencing thoughts of death or suicide may exist that may not be related to APOE-epsilon4.", "output": {"entities": {"gene": [{"text": "APOE", "start": 183, "end": 187}], "disease": [{"text": "suicide", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "All patients underwent tumor microsatellite instability (MSI) analysis and immunostaining for MLH1/MSH2, and those with MMR underwent tumor BRAF mutation analysis and MLH1/MSH2 germline testing.", "output": {"entities": {"gene": [{"text": "MMR", "start": 120, "end": 123}], "disease": [{"text": "microsatellite instability", "start": 29, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The results indicated that variant in FTO gene was significantly associated with increased risk of overweight/obesity in children and adolescents (OR = 1. 35; 95% CI: 1. 27-1. 44; P < 0. 001).", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 38, "end": 46}], "disease": [{"text": "overweight", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB.", "output": {"entities": {"gene": [{"text": "NFIB", "start": 109, "end": 113}], "disease": [{"text": "ID", "start": 54, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NFIB", "start": 109, "end": 113}, "tail": {"text": "ID", "start": 54, "end": 56}}]}}, "schema": []}
{"input": "The degree of MMR immunoreactivity and genetic instability in the form of loss of heterozygosity (LOH) and/or microsatellite instability (MSI) were determined by comparing matched normal and tumor tissue.", "output": {"entities": {"gene": [{"text": "MMR", "start": 14, "end": 17}], "disease": [{"text": "microsatellite instability", "start": 110, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Since hypoxia is known to induce the production of growth factors, such as vascular endothelial growth factor (VEGF), we examined the implication of hypoxia-induced VEGF in the proliferation of human coronary artery smooth muscle cells (CASMCs).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 111, "end": 115}], "disease": [{"text": "hypoxia", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "The knockdown of BRN2 caused significant growth retardation with decrease of S to G2 phase population and mitotic cell rates and unaltered Ki-67-labeled or apoptotic cell rates in SCLC cells, indicating increase of G1 phase population.", "output": {"entities": {"gene": [{"text": "BRN2", "start": 17, "end": 21}], "disease": [{"text": "growth retardation", "start": 41, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We also replicated the associations of the FLG, C11orf30, TMEM232-SLC25A46, TNFRSF6B-ZGPAT, OVOL1, ACTL9 and KIF3A-IL13 loci that were previously reported in GWAS of European and Chinese individuals and a meta-analysis of GWAS for atopic dermatitis.", "output": {"entities": {"gene": [{"text": "OVOL1", "start": 92, "end": 97}], "disease": [{"text": "atopic dermatitis", "start": 231, "end": 248}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OVOL1", "start": 92, "end": 97}, "tail": {"text": "atopic dermatitis", "start": 231, "end": 248}}]}}, "schema": []}
{"input": "The number of HLA-G + cells was significantly associated with the area of fibrosis.", "output": {"entities": {"gene": [{"text": "HLA-G", "start": 14, "end": 19}], "disease": [{"text": "fibrosis", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "SFKs exert a prominent role in these cells, phosphorylating key regulators of adhesion and migration and promoting tyrosine phosphorylation of the receptor tyrosine kinases EGFR and Met.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 173, "end": 177}], "disease": [{"text": "adhesion", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Key differences in secondary and tertiary structure between myoc-OLF (D380A) and wild-type myoc-OLF, as well as limited access to chelators, indicate that the calcium binding site is largely buried in the interior of the protein.", "output": {"entities": {"gene": [{"text": "OLF", "start": 65, "end": 68}], "disease": [{"text": "secondary", "start": 19, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The current article reports preliminary results from a screening protocol using high-quality magnetic resonance imaging (MRI), ductal lavage (DL), clinical breast examination, and mammography to identify early malignancy and high-risk lesions in women at increased genetic risk of breast carcinoma.", "output": {"entities": {"gene": [{"text": "MRI", "start": 121, "end": 124}], "disease": [{"text": "breast carcinoma", "start": 281, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Herein, we present the first report of disruption and haploinsufficiency of the KANSL1 gene, secondary to a t (1; 17) (q12; q21) dn chromosomal translocation in a girl that also carried a de novo ~ 289-kb deletion on 16p11. 2.", "output": {"entities": {"gene": [{"text": "KANSL1 gene", "start": 80, "end": 91}], "disease": [{"text": "chromosomal translocation", "start": 132, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Thus, NR4A3 and NR4A1 are attractive novel therapeutic targets for potential amelioration of insulin resistance, and treatment and prevention of type 2 diabetes and the metabolic syndrome.", "output": {"entities": {"gene": [{"text": "NR4A1", "start": 16, "end": 21}], "disease": [{"text": "insulin resistance", "start": 93, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR4A1", "start": 16, "end": 21}, "tail": {"text": "insulin resistance", "start": 93, "end": 111}}]}}, "schema": []}
{"input": "This phenotype is induced by overexpression of the oncogene AURKA or by loss of the tumour suppressor gene CHK2, a genetic constitution found in 73% of human colorectal cancers.", "output": {"entities": {"gene": [{"text": "AURKA", "start": 60, "end": 65}], "disease": [{"text": "colorectal cancers", "start": 158, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AURKA", "start": 60, "end": 65}, "tail": {"text": "colorectal cancers", "start": 158, "end": 176}}]}}, "schema": []}
{"input": "We isolated the AML1/EVI-1 fusion gene generated by the t (3; 21) translocation, which is usually found in blastic crisis of chronic myelocytic leukemia.", "output": {"entities": {"gene": [{"text": "AML1", "start": 16, "end": 20}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The carcinogenic plant extract aristolochic acid (AA) is thought to be the major causative agent in the development of urothelial carcinomas found in patients with Chinese herb nephropathy (CHN).", "output": {"entities": {"gene": [{"text": "CHN", "start": 190, "end": 193}], "disease": [{"text": "nephropathy", "start": 177, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "When the analysis was stratified by inventory type, there was a significant association between 5-HTTLPR and NEO neuroticism (P = 0. 000016), a non-significant association between 5-HTTLPR and TCI/TPQ harm avoidance (P = 0. 166), and no association between 5-HTTLPR and other anxiety-related personality traits (P = 0. 944).", "output": {"entities": {"gene": [{"text": "TCI", "start": 193, "end": 196}], "disease": [{"text": "anxiety", "start": 276, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Eighty-five percent of follicular lymphomas possess a characteristic t (14; 18) translocation that results in the deregulated expression of the proto-oncogene BCL-2.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 159, "end": 164}], "disease": [{"text": "translocation", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "TDI-induced asthma is an inflammatory disease of the airways that is associated with airway remodeling.", "output": {"entities": {"gene": [{"text": "TDI", "start": 0, "end": 3}], "disease": [{"text": "airway remodeling", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Recent studies suggest that younger acute myeloid leukemia (AML) patients whose leukemic blasts express the multidrug resistance gene-1 (MR1) have a poor prognosis.", "output": {"entities": {"gene": [{"text": "MR1", "start": 137, "end": 140}], "disease": [{"text": "acute myeloid leukemia", "start": 36, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "For cross-sectional analysis across the spectrum of HIV-1 disease, plasma viral load was evaluated in 112 HIV-1-infected patients by quantitative competitive polymerase chain reaction analysis, plasma p24 antigen assay, plasma immune complex-dissociated p24 antigen assay and an endpoint dilution viral culture.", "output": {"entities": {"gene": [{"text": "p24", "start": 201, "end": 204}], "disease": [{"text": "viral load", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "No significant differences were found in age at onset, sex, disease duration, history of enthesopathy, peripheral arthritis and uveitis, Schober test, chest expansion, white blood cell count, C-reactive protein and erythrocyte sedimentation rate among patients with SpA according to the CTLA-4 exon 1, CTLA-4 promoter and Fas promoter polymorphisms.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 192, "end": 210}], "disease": [{"text": "enthesopathy", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "To establish a role for insulin-like growth factor-1 (IGF-1) in bladder cancer susceptibility, we tested the effect of p-cresidine, a potent bladder carcinogen, in transgenic (TG) mice with human IGF-1 expression in the bladder driven by the bovine keratin 5 promoter (referred to as BK5. IGF-1 TG mice).", "output": {"entities": {"gene": [{"text": "insulin-like growth factor-1", "start": 24, "end": 52}], "disease": [{"text": "bladder cancer", "start": 64, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "insulin-like growth factor-1", "start": 24, "end": 52}, "tail": {"text": "bladder cancer", "start": 64, "end": 78}}]}}, "schema": []}
{"input": "The high ratio of Bcl-2 to Bax in patients with bcl-2 rearrangement and disappearance of the rearrangement with antiviral therapy suggest that the translocation is associated with the antiapoptotic function of Bcl-2 and that HCV infection is linked to inhibition of B-cell apoptosis.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 18, "end": 23}], "disease": [{"text": "translocation", "start": 147, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry and Western blot demonstrated that Eag1 and VDR abundance was higher in invasive-ductal carcinoma than in fibroadenoma, and immunoreactivity of both proteins was located in ductal epithelial cells.", "output": {"entities": {"gene": [{"text": "Eag1", "start": 56, "end": 60}], "disease": [{"text": "ductal carcinoma", "start": 102, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In the FTO-instrumented analysis only, higher BMI and overweight were also associated with CMD.", "output": {"entities": {"gene": [{"text": "FTO", "start": 7, "end": 10}], "disease": [{"text": "overweight", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Thus, FXR appears to be a promising target for the treatment of non-alcoholic steatohepatitis (NASH).", "output": {"entities": {"gene": [{"text": "FXR", "start": 6, "end": 9}], "disease": [{"text": "alcoholic steatohepatitis", "start": 68, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In a reference panel, we characterized LD structure at the fibrinogen gene cluster (fibrinogen-beta [FGB], FGA, and FGG), factor VII (F7), and tissue plasminogen activator (PLAT) loci.", "output": {"entities": {"gene": [{"text": "PLAT", "start": 173, "end": 177}], "disease": [{"text": "fibrinogen", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that a single nucleotide C > T polymorphism at position-159 in the CD14 gene that results in elevated CD14 production would influence susceptibility to preterm premature rupture of membranes (PPROM) and spontaneous preterm birth (SPTB) in multi-fetal pregnancies.", "output": {"entities": {"gene": [{"text": "CD14", "start": 83, "end": 87}], "disease": [{"text": "premature rupture of membranes", "start": 176, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "The folate receptor alpha is frequently overexpressed in osteosarcoma samples and plays a role in the uptake of the physiologic substrate 5-methyltetrahydrofolate.", "output": {"entities": {"gene": [{"text": "folate receptor alpha", "start": 4, "end": 25}], "disease": [{"text": "osteosarcoma", "start": 57, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "folate receptor alpha", "start": 4, "end": 25}, "tail": {"text": "osteosarcoma", "start": 57, "end": 69}}]}}, "schema": []}
{"input": "A novel keratin 12 mutation in a German kindred with Meesmann' s corneal dystrophy.", "output": {"entities": {"gene": [{"text": "keratin 12", "start": 8, "end": 18}], "disease": [{"text": "Meesmann' s corneal dystrophy", "start": 53, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 12", "start": 8, "end": 18}, "tail": {"text": "Meesmann' s corneal dystrophy", "start": 53, "end": 82}}]}}, "schema": []}
{"input": "On the basis of this knowledge, we demonstrate how the loss of RASSF1A function in medulloblastoma cells might be overcome using the novel BH3-only mimetic ABT-737 in combination with chemotherapeutic agents to target the BCL-2 anti-apoptotic members.", "output": {"entities": {"gene": [{"text": "RASSF1A", "start": 63, "end": 70}], "disease": [{"text": "medulloblastoma", "start": 83, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RASSF1A", "start": 63, "end": 70}, "tail": {"text": "medulloblastoma", "start": 83, "end": 98}}]}}, "schema": []}
{"input": "These findings indicate that PPARγ activation attenuates a program of hypoxia-induced ET-1 signaling by inhibiting activation of hypoxia-responsive transcription factors.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 29, "end": 34}], "disease": [{"text": "hypoxia", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The mild starvation induced these KDM2A activities through AMP-activated kinase (AMPK) but did not affect another AMPK effector of rRNA transcription, TIF-IA.", "output": {"entities": {"gene": [{"text": "KDM2A", "start": 34, "end": 39}], "disease": [{"text": "mild", "start": 4, "end": 8}]}, "relations": {}}, "schema": []}
{"input": "We recently reported two common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases.", "output": {"entities": {"gene": [{"text": "FLG", "start": 43, "end": 46}], "disease": [{"text": "secondary", "start": 123, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The pattern of associations between maternal phosphoglucomutase locus 1 (PGM1) and foetal macrosomia in diabetic pregnancy has been compared with that observed in normal pregnancy.", "output": {"entities": {"gene": [{"text": "PGM1", "start": 73, "end": 77}], "disease": [{"text": "foetal macrosomia", "start": 83, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Gene expression in patients with endogenous depression was similar to that in the normal controls, except for upregulation of five genes (APP, CREBBP, GNAS, PDCD2 and PDCD6).", "output": {"entities": {"gene": [{"text": "CREBBP", "start": 143, "end": 149}], "disease": [{"text": "endogenous depression", "start": 33, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CREBBP", "start": 143, "end": 149}, "tail": {"text": "endogenous depression", "start": 33, "end": 54}}]}}, "schema": []}
{"input": "However, our findings indicated that the bystander effect between C17. 2tk and Daoy MB cells was weak compared to the bystander effect between NSCtk and C6 glioma cells.", "output": {"entities": {"gene": [{"text": "C17", "start": 66, "end": 69}], "disease": [{"text": "glioma", "start": 156, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "These were the platelet glycoprotein (GP) receptors GPIIIa, GPIa, GPIbalpha; platelet ligands beta-fibrinogen and von Willebrand Factor (vWF); interleukins (IL) IL-1RN, and IL-6; adhesion proteins E-selectin and P-selectin; and metalloproteinase MMP-9.", "output": {"entities": {"gene": [{"text": "GPIbalpha", "start": 66, "end": 75}], "disease": [{"text": "adhesion", "start": 179, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA.", "output": {"entities": {"gene": [{"text": "CLU", "start": 96, "end": 99}], "disease": [{"text": "OA", "start": 242, "end": 244}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CLU", "start": 96, "end": 99}, "tail": {"text": "OA", "start": 242, "end": 244}}]}}, "schema": []}
{"input": "Thus, pretranslational suppression of GLUT 4 transporter gene expression may be an important mechanism that produces and maintains cellular insulin resistance in NIDDM.", "output": {"entities": {"gene": [{"text": "GLUT", "start": 38, "end": 42}], "disease": [{"text": "insulin resistance", "start": 140, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Liver tissue was collected from 31 patients with diagnosis of HCC and gene expression levels in the tumours and their adjacent non-neoplastic tissues samples were studied by analyzing changes by microarray then correlate these with the clinico-pathological parameters.", "output": {"entities": {"gene": [{"text": "HCC", "start": 62, "end": 65}], "disease": [{"text": "non-neoplastic", "start": 127, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Supporting studies in mutant mice models suggest a complex mechanism of low constitutive and activity-dependent BDNF function in MDD, particularly affecting SST/NPY-related GABA neurons, thus linking the neurotrophic and GABA hypotheses of depression.", "output": {"entities": {"gene": [{"text": "SST", "start": 157, "end": 160}], "disease": [{"text": "MDD", "start": 129, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SST", "start": 157, "end": 160}, "tail": {"text": "MDD", "start": 129, "end": 132}}]}}, "schema": []}
{"input": "Animals reconstituted with AML1-ETO-expressing cells recapitulate the hematopoietic developmental abnormalities seen in the bone marrow of human patients with the t (8; 21) translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 27, "end": 31}], "disease": [{"text": "translocation", "start": 173, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "A genetic risk score (GRS) was determined based on genotypes of these four schizophrenia risk-associated genes in 221 Caucasian subjects (89 schizophrenia patients and 132 controls).", "output": {"entities": {"gene": [{"text": "GRS", "start": 22, "end": 25}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Microsatellite regions in the type II transforming growth factor-beta receptor (TGF-beta RII) gene appear to be targets for mutation in some cancers displaying microsatellite instability (replication error phenotype, RER +).", "output": {"entities": {"gene": [{"text": "RER", "start": 217, "end": 220}], "disease": [{"text": "replication error phenotype", "start": 188, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "The aims of this study were to 1) assess the influence of SHP on hematological parameters in ESRD patients, 2) evaluate whether or not calcitriol could improve anemia and reduce the need of erythropoietin in dialysis patients, and 3) investigate the longitudinal effect of a parathyroidectomy for 6 months on regarding any improvements in calcitriol-refractory ESRD patients.", "output": {"entities": {"gene": [{"text": "SHP", "start": 58, "end": 61}], "disease": [{"text": "anemia", "start": 160, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The antinociceptive effect of ALC has been confirmed in several experimental models of neuropathic pain, including streptozotocin-and chemotherapy-induced neuropathy, and the sciatic nerve chronic constriction injury model.", "output": {"entities": {"gene": [{"text": "ALC", "start": 30, "end": 33}], "disease": [{"text": "neuropathic pain", "start": 87, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Mbnl1 (ΔE3/ΔE3)/Mbnl3 (ΔE2) mice, depleted of Mbnl1 and Mbnl3, demonstrate a profound enhancement of myotonia and an increase in the number of muscle fibers with very low Clc-1 currents, where gClmax values approach ~ 1 mS/cm (2), with the absence of a further enhancement in Clc-1 splice errors, alterations in polyA site selection or Clc-1 localization.", "output": {"entities": {"gene": [{"text": "Mbnl3", "start": 16, "end": 21}], "disease": [{"text": "myotonia", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The results of this SNP case-control study suggested an association between 4896C/T in the C3 gene and atopic childhood BA (P = 0. 0078) as well as adult BA (P = 0. 010).", "output": {"entities": {"gene": [{"text": "C3 gene", "start": 91, "end": 98}], "disease": [{"text": "atopic", "start": 103, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Exogenous VEGF administered into the vitreous on P14 was not sufficient to cause vitreous neovascularization in the HT mice.", "output": {"entities": {"gene": [{"text": "P14", "start": 49, "end": 52}], "disease": [{"text": "neovascularization", "start": 90, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine if inhibition of the AAP bcl-xl by sodium butyrate (SB) would augment apoptotic cellular death in mesothelioma when combined with adenoviral pro-apoptotic gene therapy (PAGT) by simultaneously increasing PAP and decreasing AAP in these cells.", "output": {"entities": {"gene": [{"text": "bcl-xl", "start": 48, "end": 54}], "disease": [{"text": "mesothelioma", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Several recent reports suggest that the PPARGC1A Gly482Ser (rs8192678) missense polymorphism may relate inversely with blood pressure.", "output": {"entities": {"gene": [{"text": "PPARGC1A", "start": 40, "end": 48}], "disease": [{"text": "blood pressure", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "All-trans-retinal and its condensation-products can cause retinal degeneration in a light-dependent manner and contribute to the pathogenesis of human macular diseases such as Stargardt' s disease and age-related macular degeneration.", "output": {"entities": {"gene": [{"text": "Stargardt' s disease", "start": 176, "end": 196}], "disease": [{"text": "retinal degeneration", "start": 58, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "These findings account for the absence of BPAG2 in GABEB patients and attest to the importance of this protein in adhesion of epidermis to epidermal basement membrane.", "output": {"entities": {"gene": [{"text": "BPAG2", "start": 42, "end": 47}], "disease": [{"text": "adhesion", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene.", "output": {"entities": {"gene": [{"text": "Pit-1", "start": 88, "end": 93}], "disease": [{"text": "pituitary hormone deficiency", "start": 9, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "ZEB1 is an activator of an epithelial-mesenchymal transition (EMT) and has crucial roles in tumour progression towards metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 62, "end": 65}], "disease": [{"text": "tumour progression", "start": 92, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Through Akt1 dependent pathways, Wnt1 phosphorylates GSK-3beta and maintains beta-catenin integrity to insure its translocation from the cytoplasm to the nucleus to block apoptosis.", "output": {"entities": {"gene": [{"text": "Akt1", "start": 8, "end": 12}], "disease": [{"text": "translocation", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Specifically, one complex rearrangement was described as a der (12) t (X; 12) (q28; q24. 33), which is the first report of a translocation involving MECP2 on Xq and chromosome 12.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 149, "end": 154}], "disease": [{"text": "translocation", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Either VIP or hypoxia mimetics with Ni (2 +) increased VEGF expression whereas both conditions together resulted in an additive response.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 55, "end": 59}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Hepatic insulin resistance may represent the key metabolic defect responsible for mild elevations of fasting blood glucose associated with the FTO phenotype.", "output": {"entities": {"gene": [{"text": "FTO", "start": 143, "end": 146}], "disease": [{"text": "insulin resistance", "start": 8, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The results show that CD7-T cells accumulate in certain inflammatory skin lesions without alteration of the circulating CD7-population.", "output": {"entities": {"gene": [{"text": "CD7", "start": 22, "end": 25}], "disease": [{"text": "skin lesions", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The two-in-one protein structure, the ubiquitous expression profile, and the protein' s unique biophysical characteristics that enable divalent ion transport involve TRPM7 in a plethora of (patho) physiological processes.", "output": {"entities": {"gene": [{"text": "TRPM7", "start": 166, "end": 171}], "disease": [{"text": "plethora", "start": 177, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the results of this study reveal a prominent role for MARCKS as one of the key players in the migration of CCA cells and suggest that cycling between MARCKS and pMARCKS can regulate the metastasis of biliary cancer cells.", "output": {"entities": {"gene": [{"text": "MARCKS", "start": 70, "end": 76}], "disease": [{"text": "biliary cancer", "start": 216, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "The disorder has a significant genetic component, and theories of etiology include abnormalities in the dopaminergic system, with DRD4, DAT1, SNAP25, and DRD5 being implicated as major susceptibility genes.", "output": {"entities": {"gene": [{"text": "DRD5", "start": 154, "end": 158}], "disease": [{"text": "abnormalities", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Detection of the bcl-2 t (14; 18) translocation and proto-oncogene expression in primary intraocular lymphoma.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 17, "end": 22}], "disease": [{"text": "translocation", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In contrast, thymidine phosphorylase mRNA was higher in cancer cells than in cancerous stroma in gastric cancer (p & lt; 0. 0001) and lower in cancer cells than in cancerous stroma in colon cancer (P = 0. 0055).", "output": {"entities": {"gene": [{"text": "thymidine phosphorylase", "start": 13, "end": 36}], "disease": [{"text": "gastric cancer", "start": 97, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "thymidine phosphorylase", "start": 13, "end": 36}, "tail": {"text": "gastric cancer", "start": 97, "end": 111}}]}}, "schema": []}
{"input": "We also found SRSF2, as well as another tau splicing factor, TRA2B, to be increased in brains of PSP patients.", "output": {"entities": {"gene": [{"text": "SRSF2", "start": 14, "end": 19}], "disease": [{"text": "PSP", "start": 97, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRSF2", "start": 14, "end": 19}, "tail": {"text": "PSP", "start": 97, "end": 100}}]}}, "schema": []}
{"input": "We have analyzed samples from 30 leukemia patients who had chromosome rearrangements involving 21q22 by using fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 146, "end": 150}], "disease": [{"text": "leukemia", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Allelic variants of a single nucleotide polymorphism (SNP), rs7566605, located approximately 10 kb upstream of the INSIG2 gene have been found in association with body weight and with other clinical features related to obesity in some populations but not in others.", "output": {"entities": {"gene": [{"text": "INSIG2 gene", "start": 115, "end": 126}], "disease": [{"text": "body weight", "start": 163, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Further, knockdown of endogenous GRP78 by small interfering RNA (siRNA) sensitizes MCF-7/BUS cells to estrogen starvation-induced apoptosis.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 33, "end": 38}], "disease": [{"text": "starvation", "start": 111, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We furthermore identified genes with a significant trend correlating with age in the control (MLL3) or the schizophrenia group (SOX5, CTRL).", "output": {"entities": {"gene": [{"text": "CTRL", "start": 134, "end": 138}], "disease": [{"text": "schizophrenia", "start": 107, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTRL", "start": 134, "end": 138}, "tail": {"text": "schizophrenia", "start": 107, "end": 120}}]}}, "schema": []}
{"input": "Analyses of serum TTR of the Y114C TTR carriers by electrospray ionization mass spectrometry (ESI-MS) with the orifice corn voltage at 60 V revealed a small peak of the free Y114C TTR in addition to large TTR peaks of normal TTR.", "output": {"entities": {"gene": [{"text": "TTR", "start": 18, "end": 21}], "disease": [{"text": "corn", "start": 119, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Further studies showed that miR-657 directly targets the transducin-like enhancer protein 1 (TLE1) 3' untranslated region (UTR) and activates nuclear factor kappa B (NF-κB) pathways that contribute to hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 123, "end": 126}], "disease": [{"text": "hepatocarcinogenesis", "start": 201, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "The expression and functional role of Stat3 and survivin was evaluated in 2 salivary gland adenocarcinoma cell lines (HSY and HSG).", "output": {"entities": {"gene": [{"text": "Stat3", "start": 38, "end": 43}], "disease": [{"text": "salivary gland adenocarcinoma", "start": 76, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Hyperactivity in Git1 (-/-) mice is reversed by amphetamine and methylphenidate, psychostimulants commonly used to treat ADHD.", "output": {"entities": {"gene": [{"text": "Git1", "start": 17, "end": 21}], "disease": [{"text": "ADHD", "start": 121, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Git1", "start": 17, "end": 21}, "tail": {"text": "ADHD", "start": 121, "end": 125}}]}}, "schema": []}
{"input": "The aims of this study were to determine in hypoxia-stimulated nasal polyp-derived fibroblasts (NPDF) the effect of hypoxia on the differentiation of myofibroblasts, the role of ROS, the major Nox homolog mediating myofibroblast differentiation, and the role of TGF-β (1).", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 262, "end": 267}], "disease": [{"text": "hypoxia", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "It is completely unresolved, whether coding mononucleotide repeat (cMNR) gene mutations in these mice can contribute to intestinal tumorigenesis and whether MMR-deficient mice are a suitable molecular model of human microsatellite instability (MSI)-associated intestinal tumorigenesis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 157, "end": 160}], "disease": [{"text": "microsatellite instability", "start": 216, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Results showed that hypoxic exposure induced a marked accumulation of autophagosomes accompanied by mRNA induction of the autophagy-related genes Beclin-1, Atg5, Atg7, and Atg12.", "output": {"entities": {"gene": [{"text": "Atg7", "start": 162, "end": 166}], "disease": [{"text": "hypoxic", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We investigated the involvement of ATX in inflammatory bowel disease patients and two murine models of colitis.", "output": {"entities": {"gene": [{"text": "ATX", "start": 35, "end": 38}], "disease": [{"text": "inflammatory bowel disease", "start": 42, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R + 2199 A/C polymorphisms with IL-6, IL-17, IL-21, IL-23 and TGF-β1 mRNAs expression in regard to H. pylori infection with chronic gastritis.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 52, "end": 58}], "disease": [{"text": "chronic gastritis", "start": 198, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to clarify whether ischemia-induced early growth response 1 (EGR1) influenced the outcomes of experimental stroke by regulating brain-derived neurotrophic factor (BDNF) expression.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 180, "end": 184}], "disease": [{"text": "ischemia", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The patient carrying the p. K992R SETX polymorphism had a phenotype similar to that of the diagnosed AOA2 patients, while the other three undiagnosed subjects had a very late onset and a few distinguishing clinical features.", "output": {"entities": {"gene": [{"text": "SETX", "start": 34, "end": 38}], "disease": [{"text": "AOA2", "start": 101, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SETX", "start": 34, "end": 38}, "tail": {"text": "AOA2", "start": 101, "end": 105}}]}}, "schema": []}
{"input": "Isolated MYC cytogenetic abnormalities in diffuse large B-cell lymphoma do not predict an adverse clinical outcome.", "output": {"entities": {"gene": [{"text": "MYC", "start": 9, "end": 12}], "disease": [{"text": "cytogenetic abnormalities", "start": 13, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrate functional expression of the proteinase-activated receptor 2 (PAR (2)), a member of a G-protein receptor subfamily in primary cholangiocarcinoma (PCCA) cell cultures.", "output": {"entities": {"gene": [{"text": "PCCA", "start": 176, "end": 180}], "disease": [{"text": "cholangiocarcinoma", "start": 156, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "These results did not change after adjustment for HDL-C. No significant interaction between alcohol consumption and the CETP-TaqIB polymorphism in determining HDL-C was found.", "output": {"entities": {"gene": [{"text": "CETP", "start": 120, "end": 124}], "disease": [{"text": "alcohol consumption", "start": 92, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Neither first-nor second-phase glucose-stimulated C-peptide secretion was affected by the presence of the polymorphism; nor were maximal glucose-, GLP-1-, or arginine-induced C-peptide secretion rates; nor was insulin sensitivity (all P > 0. 7).", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 147, "end": 152}], "disease": [{"text": "insulin sensitivity", "start": 210, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Indian patients who have neurological abnormalities associated with XP should be screened for mutations in the XPA gene.", "output": {"entities": {"gene": [{"text": "XPA gene", "start": 111, "end": 119}], "disease": [{"text": "abnormalities", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "GDF5 is a novel BDA2 causing gene. It is suggested that impaired activity of BMPR1B is the molecular mechanism responsible for the BDA2 phenotype.", "output": {"entities": {"gene": [{"text": "GDF5", "start": 0, "end": 4}], "disease": [{"text": "BDA2", "start": 16, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GDF5", "start": 0, "end": 4}, "tail": {"text": "BDA2", "start": 16, "end": 20}}]}}, "schema": []}
{"input": "We also found suggestive associations in women for GAD1, GRIA3, and BDNF with depression accompanied by fatigue, and for CRHR1 with depression accompanied by early morning awakenings.", "output": {"entities": {"gene": [{"text": "GRIA3", "start": 57, "end": 62}], "disease": [{"text": "fatigue", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We studied the K1 and K10 genes in blood and in the keratinocytes and fibroblasts of lesional and nonlesional skin from three patients with epidermal nevi and four of their offspring with epidermolytic hyperkeratosis.", "output": {"entities": {"gene": [{"text": "K10", "start": 22, "end": 25}], "disease": [{"text": "epidermolytic hyperkeratosis", "start": 188, "end": 216}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K10", "start": 22, "end": 25}, "tail": {"text": "epidermolytic hyperkeratosis", "start": 188, "end": 216}}]}}, "schema": []}
{"input": "In this study, we constructed a novel oncolytic adenovirus-based shRNA expression system, ZD55-Ki67, and explored ZD55-Ki67-mediated RNAi for Ki-67 gene silencing.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 95, "end": 99}], "disease": [{"text": "adenovirus", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim.", "output": {"entities": {"gene": [{"text": "BH3-only protein", "start": 144, "end": 160}], "disease": [{"text": "type 2 diabetes", "start": 44, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Direct sequencing of FA2H was conducted in 31 AR-HSP families and 55 sporadic cases without SPG11, SPG15, SPG5 and SPG7 gene mutations.", "output": {"entities": {"gene": [{"text": "SPG7 gene", "start": 115, "end": 124}], "disease": [{"text": "sporadic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Lysosomal stress in obese adipose tissue macrophages contributes to MITF-dependent Gpnmb induction.", "output": {"entities": {"gene": [{"text": "MITF", "start": 68, "end": 72}], "disease": [{"text": "obese", "start": 20, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we detected a role of SLC6A4 in mood changes after stressful events, and revealed new putative associations involving DDC and PRKCB.", "output": {"entities": {"gene": [{"text": "DDC", "start": 133, "end": 136}], "disease": [{"text": "mood changes", "start": 47, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DDC", "start": 133, "end": 136}, "tail": {"text": "mood changes", "start": 47, "end": 59}}]}}, "schema": []}
{"input": "On cryo-cut sections atypical lymphocytes with additional Her 2/neu gene copies were detected in the dermis as well as in the epidermis of affected skin.", "output": {"entities": {"gene": [{"text": "neu gene", "start": 64, "end": 72}], "disease": [{"text": "atypical lymphocytes", "start": 21, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Further, implanted tumor growth (sarcoma-180, Lewis lung carcinoma) was markedly suppressed in EP3 (-/-), in which tumor-associated angiogenesis was also reduced.", "output": {"entities": {"gene": [{"text": "EP3", "start": 95, "end": 98}], "disease": [{"text": "sarcoma", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that EGFR expression and gene copy number changes are predictors of the risk of an oral premalignant lesion (OPL) progressing to oral squamous cell carcinoma (OSCC).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 21, "end": 25}], "disease": [{"text": "premalignant lesion", "start": 104, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Overall, our results indicate inhibition of NF-kappaB activation contributes, at least partially, to the antitumour activity of TSA in human tongue carcinoma cells.", "output": {"entities": {"gene": [{"text": "TSA", "start": 128, "end": 131}], "disease": [{"text": "tongue carcinoma", "start": 141, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Nicotinamide improves motor deficits and upregulates PGC-1α and BDNF gene expression in a mouse model of Huntington' s disease.", "output": {"entities": {"gene": [{"text": "BDNF gene", "start": 64, "end": 73}], "disease": [{"text": "motor deficits", "start": 22, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "These preliminary results confirmed that MRI is a very useful tool to screen subjects at high genetic risk for breast carcinoma, not only in pre-, but also in post-menopausal age, with a low probability of false positive cases.", "output": {"entities": {"gene": [{"text": "MRI", "start": 41, "end": 44}], "disease": [{"text": "breast carcinoma", "start": 111, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome.", "output": {"entities": {"gene": [{"text": "TCTN1", "start": 86, "end": 91}], "disease": [{"text": "Joubert syndrome", "start": 104, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCTN1", "start": 86, "end": 91}, "tail": {"text": "Joubert syndrome", "start": 104, "end": 120}}]}}, "schema": []}
{"input": "Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and microcephaly, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.", "output": {"entities": {"gene": [{"text": "PED", "start": 329, "end": 332}], "disease": [{"text": "neurological disorders", "start": 92, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Data presented here identify a novel role for macrophages in EMT-promoted tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 61, "end": 64}], "disease": [{"text": "tumor progression", "start": 74, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The occurrence of severe anemia (hemoglobin < 10 g/dl) did not differ when comparing RBV vs. high RBV + EPO (7% vs. 3%; p = 0. 4).", "output": {"entities": {"gene": [{"text": "EPO", "start": 104, "end": 107}], "disease": [{"text": "hemoglobin", "start": 33, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for hypertension, diabetes, hypertriglyceridemia, and hypercholesterolemia, MMP2-1306 T allele carriers (CT + TT) also had a significantly increased risk of RVO (B = 1. 453; p < 0. 001; odds ratio = 4. 275; 95% CI: 2. 529-7. 224).", "output": {"entities": {"gene": [{"text": "MMP2", "start": 92, "end": 96}], "disease": [{"text": "hypercholesterolemia", "start": 70, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the Gln192Arg polymorphism of the PON1 gene may not be involved in the susceptibility to schizophrenia.", "output": {"entities": {"gene": [{"text": "PON1", "start": 59, "end": 63}], "disease": [{"text": "schizophrenia", "start": 114, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PON1", "start": 59, "end": 63}, "tail": {"text": "schizophrenia", "start": 114, "end": 127}}]}}, "schema": []}
{"input": "The present study evaluated the prognostic significance of apoptosis-related proteins, p53, Bcl-2, Bax, and galectin-3 in patients with locally advanced esophageal cancer treated with definitive chemoradiotherapy.", "output": {"entities": {"gene": [{"text": "galectin-3", "start": 108, "end": 118}], "disease": [{"text": "esophageal cancer", "start": 153, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "galectin-3", "start": 108, "end": 118}, "tail": {"text": "esophageal cancer", "start": 153, "end": 170}}]}}, "schema": []}
{"input": "In this study, we explored the role of NF-κB in the dysfunction of splenic macrophages in hypersplenism due to liver cirrhosis.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 39, "end": 44}], "disease": [{"text": "hypersplenism", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) (q32; q21)/IGH-MALT1 translocation in gastrointestinal extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma).", "output": {"entities": {"gene": [{"text": "MALT1", "start": 30, "end": 35}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Lipid-lowering therapy resulted in decreased SLC activity secondary to a fall in Vmax.", "output": {"entities": {"gene": [{"text": "SLC", "start": 45, "end": 48}], "disease": [{"text": "fall", "start": 73, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Another patient had a CDP-like phenotype, ichthyosis, and hypogonadism.", "output": {"entities": {"gene": [{"text": "CDP", "start": 22, "end": 25}], "disease": [{"text": "hypogonadism", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The ability of cells expressing these mutants to form DNA repair foci comprising phosphorylated H2AX in response to mild doses of cisplatin or UV irradiation was markedly diminished, unlike the nearly normal response of cells expressing wild-type GFP-lamin A or disease-causing H222P and R482L mutants.", "output": {"entities": {"gene": [{"text": "lamin A", "start": 251, "end": 258}], "disease": [{"text": "mild", "start": 116, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "In the second patient, a female with mental retardation and ectodermal dysplasia and a balanced translocation, t (X; 9) (q13. 1; p24), we mapped the 9p24 breakpoint to a region overlapping with the centromeric end of the 230-kb subtelomeric deletion.", "output": {"entities": {"gene": [{"text": "p24", "start": 129, "end": 132}], "disease": [{"text": "mental retardation", "start": 37, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Further phylogenetic analysis showed that mammalian CoAA and RBM4 genes share common ancestry with the Drosophila melanogaster gene Lark, which is known to regulate early development and circadian rhythms.", "output": {"entities": {"gene": [{"text": "RBM4", "start": 61, "end": 65}], "disease": [{"text": "circadian rhythms", "start": 187, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to determine (i) whether chemical blockade of stress-induced increase of colonic paracellular permeability by 2, 4, 6 triaminopyrimidine (TAP) affects the concomitant hypersensitivity to colonic distension, (ii) the role of epithelial cell contraction in the stress-induced increased permeability and hyperalgesia, using a myosin light chain kinase inhibitor (ML-7).", "output": {"entities": {"gene": [{"text": "TAP", "start": 164, "end": 167}], "disease": [{"text": "hyperalgesia", "start": 327, "end": 339}]}, "relations": {}}, "schema": []}
{"input": "Autotaxin is the enzyme responsible for the production of lysophosphatidic acid (LPA) from lysophosphatidyl choline (LPC), and it is up-regulated in many inflammatory conditions, including but not limited to cancer, arthritis, and multiple sclerosis.", "output": {"entities": {"gene": [{"text": "LPA", "start": 81, "end": 84}], "disease": [{"text": "arthritis", "start": 216, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "PMS2 and MSH2-MSH6 abnormalities, respectively, resulted in a decrease and complete loss of gene expression.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 14, "end": 18}], "disease": [{"text": "abnormalities", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Chemokine receptor 5 (CCR5) up-regulation may influence the recruitment and accumulation of glia near senile plaques; activated microglia express CCR5 and reactive astrocytes express chemokines.", "output": {"entities": {"gene": [{"text": "CCR5", "start": 22, "end": 26}], "disease": [{"text": "senile plaques", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The desmoplastic type showed high expression of podoplanin, prolyl 4-hydroxylase, S100A4, PDGFRα, and PDGFRβ, whereas the sclerotic type exhibited low expression of FAPα, PDGFα, PDGFβ, and NG2.", "output": {"entities": {"gene": [{"text": "podoplanin", "start": 48, "end": 58}], "disease": [{"text": "desmoplastic", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Our finding confirms the recent report that NPHP3-null mutations cause renal-hepatic-pancreatic dysplasia.", "output": {"entities": {"gene": [{"text": "NPHP3", "start": 44, "end": 49}], "disease": [{"text": "renal-hepatic-pancreatic dysplasia", "start": 71, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NPHP3", "start": 44, "end": 49}, "tail": {"text": "renal-hepatic-pancreatic dysplasia", "start": 71, "end": 105}}]}}, "schema": []}
{"input": "Similarly, expression of the hypoxia-regulated angiogenic factor, vascular endothelial growth factor (VEGF) to a high level resulted in tumor cell dissemination and metastasis, which correlated with increased tumor neovascularization.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 102, "end": 106}], "disease": [{"text": "hypoxia", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "To investigate the effects of lithium (Li) and prostaglandin A1 (PGA1) on the expression of heat shock factor 1 (HSF-1), heat shock proteins (HSP), and apoptosis protease activating factor-1 (Apaf-1) induced by permanent focal ischemia in rats.", "output": {"entities": {"gene": [{"text": "HSF-1", "start": 113, "end": 118}], "disease": [{"text": "ischemia", "start": 227, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "We have also shown that hemin increased the size of autophagic vacuoles which were labelled with LC3 and the degradative lysosomal marker dye quenched-bovine serum albumin.", "output": {"entities": {"gene": [{"text": "LC3", "start": 97, "end": 100}], "disease": [{"text": "autophagic vacuoles", "start": 52, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We concluded that several prognostic factors are the reflection of microenvironment interactions and that the increased adhesion/migratory capacity of ZAP70 (+) cells in their microenvironment can explain their better survival and thus the aggressiveness of the disease.", "output": {"entities": {"gene": [{"text": "ZAP70", "start": 151, "end": 156}], "disease": [{"text": "adhesion", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Based on its interaction with the MutL homologue MLH1, it was postulated that MLH3 might play a role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "MLH3", "start": 78, "end": 82}], "disease": [{"text": "tumorigenesis", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that the PPARGC1A Ser482 allele may be associated with higher blood pressure, but this is only apparent in younger adults.", "output": {"entities": {"gene": [{"text": "PPARGC1A", "start": 30, "end": 38}], "disease": [{"text": "blood pressure", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "p. A143T patients suffering from stroke/transient ischemic attacks had slightly decreased residual GLA activities, and/or increased lyso-Gb3 levels, suspecting FD.", "output": {"entities": {"gene": [{"text": "GLA", "start": 99, "end": 102}], "disease": [{"text": "FD", "start": 160, "end": 162}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLA", "start": 99, "end": 102}, "tail": {"text": "FD", "start": 160, "end": 162}}]}}, "schema": []}
{"input": "Moreover, weak expression of ANKRD18A in methylated lung cancer cell lines increased markedly after treatment with the DNA methylation inhibitor 5-aza-2'-deoxycytidine.", "output": {"entities": {"gene": [{"text": "ANKRD18A", "start": 29, "end": 37}], "disease": [{"text": "lung cancer", "start": 52, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANKRD18A", "start": 29, "end": 37}, "tail": {"text": "lung cancer", "start": 52, "end": 63}}]}}, "schema": []}
{"input": "Screening of PDE4D identified heterozygous mutations (c. 568T & gt; G [p. Ser190Ala] and c. 1759A & gt; C [p. Thr587Pro]) in two additional acrodysostosis cases.", "output": {"entities": {"gene": [{"text": "PDE4D", "start": 13, "end": 18}], "disease": [{"text": "acrodysostosis", "start": 140, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDE4D", "start": 13, "end": 18}, "tail": {"text": "acrodysostosis", "start": 140, "end": 154}}]}}, "schema": []}
{"input": "The first association was between IFN-gamma and IL-12, with 76% of granulomas staining positive for both cytokines.", "output": {"entities": {"gene": [{"text": "IFN", "start": 34, "end": 37}], "disease": [{"text": "granulomas", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic disease characterized by infantile onset white matter edema and delayed onset neurological deterioration.", "output": {"entities": {"gene": [{"text": "MLC", "start": 48, "end": 51}], "disease": [{"text": "edema", "start": 120, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Altered expression of astrocyte elevated gene-1 (AEG-1) is associated with tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 49, "end": 54}], "disease": [{"text": "tumorigenesis", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Promoter hypermethylation of RAMP2, epidermal growth factor-containing fibulin-like extracellular matrix protein 1, and deleted in U Twenty Twenty cells was detected in 36% to 77% of 22 lung cancer cell lines and in 38% to 50% of 32 primary lung tumors, whereas hypermethylathion of these genes was rarely found in the matched normal samples.", "output": {"entities": {"gene": [{"text": "RAMP2", "start": 29, "end": 34}], "disease": [{"text": "lung tumors", "start": 241, "end": 252}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAMP2", "start": 29, "end": 34}, "tail": {"text": "lung tumors", "start": 241, "end": 252}}]}}, "schema": []}
{"input": "In this report, we describe a novel VEGFR3 mutation in exon 22 in a four-generation family in which congenital lymphedema segregates in an autosomal dominant manner.", "output": {"entities": {"gene": [{"text": "VEGFR3", "start": 36, "end": 42}], "disease": [{"text": "congenital lymphedema", "start": 100, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VEGFR3", "start": 36, "end": 42}, "tail": {"text": "congenital lymphedema", "start": 100, "end": 121}}]}}, "schema": []}
{"input": "In this study, we demonstrate that cancer malignancy associated with the glycosylation of CD63 is regulated by RPN2.", "output": {"entities": {"gene": [{"text": "RPN2", "start": 111, "end": 115}], "disease": [{"text": "malignancy", "start": 42, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The GKN1 expression was downregulated in 36 H. pylori-positive patients with respect to 29 H. pylori-negative subjects as evaluated by Western blot, reverse transcriptase polymerase chain reaction (RT-PCR) and immunohistochemistry, showing a progressive decrease from chronic gastritis to atrophy and intestinal metaplasia.", "output": {"entities": {"gene": [{"text": "GKN1", "start": 4, "end": 8}], "disease": [{"text": "atrophy", "start": 289, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "However, the metoprolol-induced fibrosis and cardiac dysfunction were not evoked in β-arrestin2-or GRK5-knock-out mice.", "output": {"entities": {"gene": [{"text": "GRK5", "start": 99, "end": 103}], "disease": [{"text": "fibrosis", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Because both cortisol and CRH have behavioral effects, and hypothalamic CRH hypersecretion has been associated with chronic states of anxiety and depression, we performed endocrine and psychologic studies in consecutively admitted parents of patients with classic congenital adrenal hyperplasia due to 21-OH deficiency and parents of children with other chronic endocrine disorders.", "output": {"entities": {"gene": [{"text": "CRH", "start": 26, "end": 29}], "disease": [{"text": "endocrine disorders", "start": 362, "end": 381}]}, "relations": {}}, "schema": []}
{"input": "Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor.", "output": {"entities": {"gene": [{"text": "ADCA", "start": 38, "end": 42}], "disease": [{"text": "cerebellar signs", "start": 171, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Importantly, changes in homeostasis model assessment-insulin resistance were predictive of changes in serum chemerin (P = 0. 046).", "output": {"entities": {"gene": [{"text": "chemerin", "start": 108, "end": 116}], "disease": [{"text": "insulin resistance", "start": 53, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?", "output": {"entities": {"gene": [{"text": "GFAP", "start": 8, "end": 12}], "disease": [{"text": "Alexander disease", "start": 67, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 8, "end": 12}, "tail": {"text": "Alexander disease", "start": 67, "end": 84}}]}}, "schema": []}
{"input": "TTV infection was not associated with hepatitis B or C virus infection in blood donors.", "output": {"entities": {"gene": [{"text": "TTV", "start": 0, "end": 3}], "disease": [{"text": "virus infection", "start": 55, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Taken together, this study implicates EAAC1-dependent cysteine uptake as an endogenous source of enhancing antioxidant function and zinc homeostasis in neurons in the ischemic brain.", "output": {"entities": {"gene": [{"text": "EAAC1", "start": 38, "end": 43}], "disease": [{"text": "brain", "start": 176, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EAAC1", "start": 38, "end": 43}, "tail": {"text": "brain", "start": 176, "end": 181}}]}}, "schema": []}
{"input": "The results of this case-control study indicate a strong association between allelic variants of MTNR1A and recurrent calcium nephrolithiasis.", "output": {"entities": {"gene": [{"text": "MTNR1A", "start": 97, "end": 103}], "disease": [{"text": "calcium nephrolithiasis", "start": 118, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "For this aim, a total of 30 gastric adenocarcinoma patients and 30 normal individuals were selected and examined for MT2 gene expression by real-time PCR.", "output": {"entities": {"gene": [{"text": "MT2", "start": 117, "end": 120}], "disease": [{"text": "gastric adenocarcinoma", "start": 28, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The ADRbeta3 variant was not significantly associated with any of the obesity-related traits, but subjects with the PPAR-gamma2 variant (n = 98) had significantly higher levels of lasting insulin (P = 0. 03), leptin (P = 0. 009), and waist circumference (P = 0. 03) than those without.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 116, "end": 120}], "disease": [{"text": "waist circumference", "start": 234, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "The aim was to examine cervical interleukin (IL)-6 and IL-8 in relation to microbial invasion of the amniotic fluid, intra-amniotic inflammation, and preterm birth in women in preterm labor.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 55, "end": 59}], "disease": [{"text": "preterm birth", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Inactivating PROP1 gene alterations are responsible for over 50% of familial combined pituitary hormone deficiency cases.", "output": {"entities": {"gene": [{"text": "PROP1 gene", "start": 13, "end": 23}], "disease": [{"text": "pituitary hormone deficiency", "start": 86, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The expression of AQP9 was up-regulated in this glaucoma model and the immunoreactivities of the AQP4 and GFAP were also detected as co-localizing with AQP9 in the optic nerve region, indicating retina ganglion cells were surrounded by activated astrocytes.", "output": {"entities": {"gene": [{"text": "AQP9", "start": 18, "end": 22}], "disease": [{"text": "glaucoma", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Twist1 is known to be involved in epithelial-mesenchymal transition (EMT) and tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 69, "end": 72}], "disease": [{"text": "tumor progression", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "3M syndrome (MIM 273750) is an autosomal recessive disorder characterized by pre-and post-natal growth retardation (<-4 SD), facial dysmorphism, large head circumference, normal intelligence and endocrine function.", "output": {"entities": {"gene": [{"text": "MIM", "start": 13, "end": 16}], "disease": [{"text": "facial dysmorphism", "start": 125, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Three patients with X-linked hyper-IgM syndrome (XHIM), who were all asymptomatic until they developed B19-induced chronic anemia at the ages of 8, 14, and 17 years, respectively, were found to have mutations of the CD40L gene, including a missense mutation (T254M), a nonsense mutation resulting in a new initiation codon and loss of the intracellular domain (R11X), and a splice site mutation (nt 309 + 2t--> a).", "output": {"entities": {"gene": [{"text": "B19", "start": 103, "end": 106}], "disease": [{"text": "asymptomatic", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Caspr2 is a member of neurexin superfamily, members of which are transmembrane proteins that mediate cellular interactions in the nervous system.", "output": {"entities": {"gene": [{"text": "Caspr2", "start": 0, "end": 6}], "disease": [{"text": "nervous system", "start": 130, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Our STP mice exhibited advanced ADM, increased fibrosis, increased numbers of PanIN lesions, overexpression of chronic pancreatitis-related marker Muc6, and elevated expression of desmoplasia-associated marker Col1A1, compared to the MT-TGFα mice.", "output": {"entities": {"gene": [{"text": "STP", "start": 4, "end": 7}], "disease": [{"text": "chronic pancreatitis", "start": 111, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Upon the induction of myocardial ischaemia-reperfusion in the OVX rats, plasma creatine kinase-(muscle-brain) was depressed by PPT and oxytocin, whereas DPN, PPT and OT reduced plasminogen activator inhibitor-1 concentrations.", "output": {"entities": {"gene": [{"text": "PPT", "start": 127, "end": 130}], "disease": [{"text": "myocardial ischaemia", "start": 22, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Seventeen paraffin-embedded specimens of carcinomas of the bilary system were subjected to loss-of-heterozygosity (LOH) and microsatellite instability analyses, methylation-specific polymerase-chain reaction (MSP) and immunohistochemical detection of PROX1 protein in tumor sections.", "output": {"entities": {"gene": [{"text": "PROX1", "start": 251, "end": 256}], "disease": [{"text": "microsatellite instability", "start": 124, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "To determine the frequency of mismatch repair (MMR) gene germline mutations in endometrial cancer patients who were diagnosed at less than 50 years of age; to relate the presence of mutations to family history, histopathologic data, presence of tumor microsatellite instability (MSI), and immunostaining; and to formulate criteria for genetic testing in these patients.", "output": {"entities": {"gene": [{"text": "MMR", "start": 47, "end": 50}], "disease": [{"text": "microsatellite instability", "start": 251, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 39, "end": 44}], "disease": [{"text": "Wilson disease", "start": 66, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 39, "end": 44}, "tail": {"text": "Wilson disease", "start": 66, "end": 80}}]}}, "schema": []}
{"input": "The 2009 NCCN Clinical Practice Guidelines in Oncology for Breast Cancer Screening and Diagnosis include significant updates for the role of MRI in screening women at increased risk for breast cancer.", "output": {"entities": {"gene": [{"text": "MRI", "start": 141, "end": 144}], "disease": [{"text": "breast cancer", "start": 186, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "DNMT3L promoter hypomethylation was more often found in polyps harbouring KRAS mutations (p = 0. 0053).", "output": {"entities": {"gene": [{"text": "DNMT3L", "start": 0, "end": 6}], "disease": [{"text": "polyps", "start": 56, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Future studies are needed to examine the significance of chronic interstitial pneumonitits and UIP pattern in fibrotic sarcoidosis as a potential marker for progressive disease, and the roles of PTGS2 polymorphism in various ethnic groups and Sp1/Sp3 binding in other fibrotic lung diseases.", "output": {"entities": {"gene": [{"text": "Sp3", "start": 247, "end": 250}], "disease": [{"text": "sarcoidosis", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The proliferation of retinal pigment epithelium (RPE) cells resulting from an epithelial-mesenchymal transition (EMT) plays a key role in proliferative vitreoretinopathy (PVR), which leads to complex retinal detachment and the loss of vision.", "output": {"entities": {"gene": [{"text": "EMT", "start": 113, "end": 116}], "disease": [{"text": "retinal detachment", "start": 200, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that inhibiting TNF & #945; may represent an efficacious approach to mitigating lung injury induced by mustards.", "output": {"entities": {"gene": [{"text": "TNF", "start": 35, "end": 38}], "disease": [{"text": "lung injury", "start": 99, "end": 110}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TNF", "start": 35, "end": 38}, "tail": {"text": "lung injury", "start": 99, "end": 110}}]}}, "schema": []}
{"input": "Finally, the treatment of AC16 cells with the HIF-1 inhibitor rotenone in hypoxia inhibited BNP and VEGF release.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 100, "end": 104}], "disease": [{"text": "hypoxia", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 21, "end": 25}], "disease": [{"text": "Muir-Torre syndrome", "start": 89, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSH6", "start": 21, "end": 25}, "tail": {"text": "Muir-Torre syndrome", "start": 89, "end": 108}}]}}, "schema": []}
{"input": "In conclusion, our findings suggest that over-expression of the IL2RG gene may be implicated in altered immune response in schizophrenia and contribute to the pathomechanisms of this disorder.", "output": {"entities": {"gene": [{"text": "IL2RG", "start": 64, "end": 69}], "disease": [{"text": "schizophrenia", "start": 123, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL2RG", "start": 64, "end": 69}, "tail": {"text": "schizophrenia", "start": 123, "end": 136}}]}}, "schema": []}
{"input": "Analysis by cDNA microarray, RT-PCR, and Western blot showed that cell death members of Bcl-2 family, Bcl-2/adenovirus E1B 19-kDa-interacting protein 3 (BNIP3) and its homologue BNIP3-like (BNIP3L), were upregulated in As (2) O (3)-induced autophagic cell death.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 153, "end": 158}], "disease": [{"text": "adenovirus", "start": 108, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In total, 114 lung cancer specimens were included in the study; high expression of ILT4, ANGPTL2 and ANGPTL5 was observed in 58. 8, 45. 6 and 55. 3%, respectively.", "output": {"entities": {"gene": [{"text": "ANGPTL2", "start": 89, "end": 96}], "disease": [{"text": "lung cancer", "start": 14, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we validated the role of the BH4 domain of bcl-2 in the regulation of HIF-1/VEGF axis, demonstrating that BH4 peptide is sufficient to increase HIF-1α protein half-life impairing HIF-1α protein ubiquitination, and to enhance VEGF secretion in melanoma cells exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 86, "end": 90}], "disease": [{"text": "hypoxia", "start": 279, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "HLA-DRB1 * 1501, a subtype of HLA-DR2, has been shown to be closely associated with a good response to cyclosporine (CyA) therapy in patients with aplastic anaemia (AA).", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 0, "end": 8}], "disease": [{"text": "anaemia", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Previous studies have shown a highly significant association between sporadic MD and one of the human leukocyte antigen, HLA-C genotypes, whereas disease activity has been related to the detection of enterovirus-specific viral protein (VP1) in the peripheral circulation.", "output": {"entities": {"gene": [{"text": "HLA-C", "start": 121, "end": 126}], "disease": [{"text": "sporadic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.", "output": {"entities": {"gene": [{"text": "CDH8", "start": 78, "end": 82}], "disease": [{"text": "alcohol dependency", "start": 277, "end": 295}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH8", "start": 78, "end": 82}, "tail": {"text": "alcohol dependency", "start": 277, "end": 295}}]}}, "schema": []}
{"input": "Most (80%) Par4-null females presented endometrial hyperplasia by 9 months of age, and a significant proportion (36%) developed endometrial adenocarcinomas after 1 year of age.", "output": {"entities": {"gene": [{"text": "Par4", "start": 11, "end": 15}], "disease": [{"text": "adenocarcinomas", "start": 140, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Par4", "start": 11, "end": 15}, "tail": {"text": "adenocarcinomas", "start": 140, "end": 155}}]}}, "schema": []}
{"input": "However, APL and AML with maturation expressed comparable AQP9 levels, suggesting that AQP9 expression was related to granulocytic maturation.", "output": {"entities": {"gene": [{"text": "AQP9", "start": 58, "end": 62}], "disease": [{"text": "AML with maturation", "start": 17, "end": 36}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AQP9", "start": 58, "end": 62}, "tail": {"text": "AML with maturation", "start": 17, "end": 36}}]}}, "schema": []}
{"input": "These findings suggest a novel regulatory mechanism for CD274 overexpression in gastric cancer mediated by miR-570 and a somatic mutation in CD274 3'-UTR, and provide a new insight to gastric carcinogenesis.", "output": {"entities": {"gene": [{"text": "CD274", "start": 56, "end": 61}], "disease": [{"text": "somatic mutation", "start": 121, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported that intra-arterial administration of recombinant HGF induced angiogenesis in a rabbit hindlimb ischemia model.", "output": {"entities": {"gene": [{"text": "HGF", "start": 78, "end": 81}], "disease": [{"text": "ischemia", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Among them, ras-related protein rab-13 (RAB13), neuroblastoma breakpoint family member 10 (NBPF10) and disks large homologue 4 (DLG4) were found to be involved in GBM for the first time.", "output": {"entities": {"gene": [{"text": "ras-related protein", "start": 12, "end": 31}], "disease": [{"text": "neuroblastoma", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: Higher IGF-I levels among postmenopausal women and an elevated IGF-I: IGFBP-3 ratio among all women were associated with higher TDLU counts, a marker of decreased lobular involution (P-trend = 0. 009 and < 0. 0001, respectively); these associations were strongest among women with elevated mammographic density (P-interaction < 0. 01).", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 16, "end": 21}], "disease": [{"text": "mammographic density", "start": 299, "end": 319}]}, "relations": {}}, "schema": []}
{"input": "This study examined PLC isozymes of the cardiac sarcolemma (SL) membrane and in the cytosol compartment in isolated perfused rat hearts subjected to global ischemia for 30 min followed by up to 30 min of reperfusion.", "output": {"entities": {"gene": [{"text": "PLC", "start": 20, "end": 23}], "disease": [{"text": "ischemia", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Here, we determined the role of the kallikrein-kinin system in the pathogenesis of streptozotocin-induced diabetic nephropathy in wild-type and tissue kallikrein-knockout mice.", "output": {"entities": {"gene": [{"text": "tissue kallikrein", "start": 144, "end": 161}], "disease": [{"text": "diabetic nephropathy", "start": 106, "end": 126}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "tissue kallikrein", "start": 144, "end": 161}, "tail": {"text": "diabetic nephropathy", "start": 106, "end": 126}}]}}, "schema": []}
{"input": "Unilateral renal artery stenosis increased the plasma renin concentration and blood pressure in both the wild-type and the Cx45 knock-in mice but not in the Cx40 knockout mice.", "output": {"entities": {"gene": [{"text": "Cx40", "start": 157, "end": 161}], "disease": [{"text": "renal artery stenosis", "start": 11, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies.", "output": {"entities": {"gene": [{"text": "LZTR1", "start": 40, "end": 45}], "disease": [{"text": "Noonan syndrome", "start": 63, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LZTR1", "start": 40, "end": 45}, "tail": {"text": "Noonan syndrome", "start": 63, "end": 78}}]}}, "schema": []}
{"input": "The degree of cord atrophy was more prominent in patients with SPG6 and SPG8 who had signs of severe cord atrophy (47. 60 +/-6. 58 mm2 at C2, 21. 40 +/-2. 4 mm2 at T9) than in subjects with SPG3 and SPG4 (66. 0 +/-8. 94 mm2 at C2, p < 0. 02; 31. 75 +/-2. 76 mm2 at T9, p < 0. 001).", "output": {"entities": {"gene": [{"text": "mm2", "start": 131, "end": 134}], "disease": [{"text": "atrophy", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The present study suggests that the-1021C/T DBH polymorphism affects the personality trait of harm avoidance in healthy females.", "output": {"entities": {"gene": [{"text": "DBH", "start": 44, "end": 47}], "disease": [{"text": "personality trait", "start": 73, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Here we show that patients with COPD fail to induce HIF-1α and VEGF under hypoxic condition because of a reduction in histone deacetylase (HDAC) 7.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 63, "end": 67}], "disease": [{"text": "hypoxic", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Results demonstrate that quercetin, a natural flavonoid, restores TRAIL-induced cell death in resistant transformed follicular lymphoma B-cell lines, despite high Bcl-2 expression levels due to the chromosomal translocation t (14; 18).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 163, "end": 168}], "disease": [{"text": "chromosomal translocation", "start": 198, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "In this model, we observed reduced systemic IL-10 levels, local IFN-γ gene transcripts, as well as mild mast cell infiltration into the psoriatic lesions of the mice.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 44, "end": 49}], "disease": [{"text": "mild", "start": 99, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The p53-PRO/PRO genotype was more frequent in the U. S. POAG patients with early visual field defects in the paracentral regions compared with those in the peripheral regions or control group (p = 2. 7 × 10 (-5)).", "output": {"entities": {"gene": [{"text": "p53", "start": 4, "end": 7}], "disease": [{"text": "visual field defects", "start": 81, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to examine the impact of parental type 2 diabetes on the autonomic nervous system and to determine whether autonomic neuropathy is present and associated with changes in 24-h ambulatory blood pressure (AMBP) and urinary albumin excretion rate (UAER) in nondiabetic subjects with parental type 2 diabetes.", "output": {"entities": {"gene": [{"text": "AMBP", "start": 228, "end": 232}], "disease": [{"text": "autonomic neuropathy", "start": 133, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827).", "output": {"entities": {"gene": [{"text": "ATP8B1", "start": 81, "end": 87}], "disease": [{"text": "inflammation", "start": 319, "end": 331}]}, "relations": {}}, "schema": []}
{"input": "AGS, MKN1, MKN28 gastric cancer cells and HFE-145 immortalized non-neoplastic gastric mucosal cells were transfected with GKN1 or shGKN1.", "output": {"entities": {"gene": [{"text": "GKN1", "start": 122, "end": 126}], "disease": [{"text": "non-neoplastic", "start": 63, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the central & #945;-helical and C-terminal & #946;-sheet domains are important for protein disulfide isomerase binding and lipid transfer activity.", "output": {"entities": {"gene": [{"text": "MTP", "start": 33, "end": 36}], "disease": [{"text": "abetalipoproteinemia", "start": 45, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTP", "start": 33, "end": 36}, "tail": {"text": "abetalipoproteinemia", "start": 45, "end": 65}}]}}, "schema": []}
{"input": "Follicular lymphoma is characterized by chromosomal translocation involving BCL2 and immunoglobulin heavy chain genes (IgH).", "output": {"entities": {"gene": [{"text": "BCL2", "start": 76, "end": 80}], "disease": [{"text": "chromosomal translocation", "start": 40, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The FISH probe was hybridized on different samples of 16 patients with leukemia (3 T-ALL, 13 CML) and normal controls.", "output": {"entities": {"gene": [{"text": "FISH", "start": 4, "end": 8}], "disease": [{"text": "leukemia", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "FLG mutations were associated with an increased risk of atopic dermatitis (OR 3. 3, CI 2. 1-5. 3), dermatology consultations for allergy or rash (HR 2. 2, CI 1. 4-3. 5), basic dermatology consultations at age < 5 years (HR 2. 2, CI 1. 7-2. 9), urticaria at age < 18 months (OR 2. 9, CI 1. 0-7. 9), and other rash at age < 18 months (OR 2. 1, CI 1. 2-3. 8).", "output": {"entities": {"gene": [{"text": "FLG", "start": 0, "end": 3}], "disease": [{"text": "rash", "start": 140, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The exogenous miR-363 promotes growth, viability, progression, epithelial-mesenchymal transition and tumorsphere formation of SC-M1 gastric cancer cells through downregulation of MBP-1, whereas the knockdown of endogenous miR-363 suppresses tumorigenesis and progression of SC-M1 cells via upregulation of MBP-1.", "output": {"entities": {"gene": [{"text": "miR-363", "start": 14, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 241, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Using a combination of immunohistochemical studies [cytokeratins 7 and 20, E-cadherin, beta-catenin, p53, MLH-1, MSH-2, MSH-6, and O6-methylguanine methyltransferase (MGMT)], DNA sequencing [beta-catenin, adenomatous polyposis coli (APC), p53, KRAS, and BRAF], and a polymerase chain reaction-based microsatellite instability assay; we assessed each case for abnormalities in the Wnt signaling and mitogen-activated protein kinase pathways and DNA repair mechanisms.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 75, "end": 85}], "disease": [{"text": "microsatellite instability", "start": 299, "end": 325}]}, "relations": {}}, "schema": []}
{"input": "A D/D (deletion/deletion) polymorphism within the ACE (angiotensin 1-converting enzyme) gene increases the risk of microalbuminuria, a predictor of atherosclerotic vascular disease, in essential hypertension.", "output": {"entities": {"gene": [{"text": "ACE", "start": 50, "end": 53}], "disease": [{"text": "microalbuminuria", "start": 115, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Thus, increasing Nrf2 translocation by DJ-1 may represent a novel means for GI protection.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 39, "end": 43}], "disease": [{"text": "translocation", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Samples of sectors CA3/2 and CA1 were obtained from patients with schizophrenia, patients with bipolar disorder, and healthy controls.", "output": {"entities": {"gene": [{"text": "CA1", "start": 29, "end": 32}], "disease": [{"text": "bipolar disorder", "start": 95, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Importantly, reversing the build-up of histone deacetylase 2 by short-hairpin-RNA-mediated knockdown unlocks the repression of these genes, reinstates structural and synaptic plasticity, and abolishes neurodegeneration-associated memory impairments.", "output": {"entities": {"gene": [{"text": "histone deacetylase 2", "start": 39, "end": 60}], "disease": [{"text": "neurodegeneration", "start": 201, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Transfection of miR-7 into glioma cell lines causes inhibition of cell migration and invasion and suppression of tumorigenesis.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 16, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION: In contrast to patients suffering from migraine with aura and without aura, CGRP infusion did not induce more migraine-like attacks in FHM patients without known mutations compared to controls.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 88, "end": 92}], "disease": [{"text": "aura", "start": 65, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Starvation of rats increases serum corticosterone concentration, lipolysis, tryptophan availability to the liver, tryptophan pyrrolase activity and liver [NADP (H)]. Glucose prevents all these changes. 3.", "output": {"entities": {"gene": [{"text": "tryptophan pyrrolase", "start": 114, "end": 134}], "disease": [{"text": "Starvation", "start": 0, "end": 10}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tryptophan pyrrolase", "start": 114, "end": 134}, "tail": {"text": "Starvation", "start": 0, "end": 10}}]}}, "schema": []}
{"input": "Taken together, we conclude that newly synthesized mouse OTC enzyme was efficiently imported into mitochondria following vector-mediated gene delivery in spf (ash) mice, correcting secondary metabolic alterations.", "output": {"entities": {"gene": [{"text": "OTC", "start": 57, "end": 60}], "disease": [{"text": "secondary", "start": 181, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "14-3-3 isoform expression was determined by real-time quantitative PCR in laser capture normal pancreatic ductal cells and pancreatic cancer cells and in 5 pancreatic cancer cell lines.", "output": {"entities": {"gene": [{"text": "14-3-3", "start": 0, "end": 6}], "disease": [{"text": "pancreatic cancer", "start": 123, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The translocated and normal bcl-2 alleles in the DHL-4 cell line with the t (14; 18) translocation were separated by pulsed field electrophoresis.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 28, "end": 33}], "disease": [{"text": "translocation", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Prolonged use of IDE inhibitors for T2DM treatment should be carefully tested in animal studies regarding its potential effect on hepatic tumorigenesis.", "output": {"entities": {"gene": [{"text": "IDE", "start": 17, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p. I37N, p. T38M, p. M172I and p. D202Y, located to the two N-terminal Ig-like domains present in five families with symptoms of L1 syndrome.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 88, "end": 93}], "disease": [{"text": "L1 syndrome", "start": 233, "end": 244}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L1CAM", "start": 88, "end": 93}, "tail": {"text": "L1 syndrome", "start": 233, "end": 244}}]}}, "schema": []}
{"input": "Direct sequencing was carried out on the 6 unknown alleles, and a novel amber mutation in a beta 0-thalassemia gene (beta 37TGG--> TAG) was found in one of them.", "output": {"entities": {"gene": [{"text": "TAG", "start": 131, "end": 134}], "disease": [{"text": "thalassemia", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Internal tandem duplication was correlated with higher white blood cell and blast counts, lactate dehydrogenase, relapse-risk score, fever, hemorrhage, coagulopathy, BCR3 isoform, M3 variant subtype, and expression of CD2, CD34, human leukocyte antigen-DR, and CD11b surface antigens.", "output": {"entities": {"gene": [{"text": "CD34", "start": 223, "end": 227}], "disease": [{"text": "hemorrhage", "start": 140, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In stratified regression models including demographical and disease-related factors as covariates, 96 single nucleotide polymorphisms (SNPs) in 16 candidate genes related to opioid-or nausea/vomiting signalling pathways (ABCB1, OPRM1, OPRK1, ARRB2, STAT6, COMT, CHRM3, CHRM5, HRH1, DRD2, DRD3, TACR1, HTR3A, HTR3B, HTR3C, CNR1) were analysed for association with nausea and vomiting.", "output": {"entities": {"gene": [{"text": "STAT6", "start": 249, "end": 254}], "disease": [{"text": "nausea and vomiting", "start": 363, "end": 382}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of CRTC1 enhancing CREB-dependent gene transcription in spinal cord may play an important role in bone cancer pain.", "output": {"entities": {"gene": [{"text": "CRTC1", "start": 16, "end": 21}], "disease": [{"text": "cancer pain", "start": 116, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The lung cancer tissue and resection margin contained many folds larger amounts of immunoreactive gastrin than intact bronchial mucosa.", "output": {"entities": {"gene": [{"text": "gastrin", "start": 98, "end": 105}], "disease": [{"text": "lung cancer", "start": 4, "end": 15}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gastrin", "start": 98, "end": 105}, "tail": {"text": "lung cancer", "start": 4, "end": 15}}]}}, "schema": []}
{"input": "Polyurethane-short branch PEI (PU-PEI)-based administration of double-stranded DNA (dsDNA) encoding small interfering RNA (siRNA) against EZH2 and Oct4 (siEZH2/siOct4) led to partial anti-cancer capacity and mild suppression of CSC-like properties.", "output": {"entities": {"gene": [{"text": "Oct4", "start": 147, "end": 151}], "disease": [{"text": "mild", "start": 208, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "We report a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 35, "end": 42}], "disease": [{"text": "relative macrocephaly", "start": 112, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In vivo studies indicated that NOR decreased the number of OCs and ameliorated the bone erosion in the joints of rats with collagen-induced arthritis, accompanied by the up-regulation of CYP1A1 and the down-regulation of VEGF mRNA expression in the synovium of rats.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 221, "end": 225}], "disease": [{"text": "collagen-induced arthritis", "start": 123, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VEGF", "start": 221, "end": 225}, "tail": {"text": "collagen-induced arthritis", "start": 123, "end": 149}}]}}, "schema": []}
{"input": "There was, however, clear evidence that VG1, like AG1, could induce spondylitis in the lumbar spine and sacroiliitis.", "output": {"entities": {"gene": [{"text": "AG1", "start": 50, "end": 53}], "disease": [{"text": "spondylitis", "start": 68, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVE: To investigate whether glutamine deprivation induces expression of inflammatory cytokine interleukin-8 (IL-8) by determining NF-κB activity and levels of oxidative indices (ROS, reactive oxygen species; hydrogen peroxide; GSH, glutathione) in fibroblasts isolated from patients with ataxia telangiectasia (A-T).", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 136, "end": 141}], "disease": [{"text": "telangiectasia", "start": 301, "end": 315}]}, "relations": {}}, "schema": []}
{"input": "Univariate analysis suggested potential associations of severe OXCPN with rs843748 in ACYP2 and rs17140129 in FARS2, as well as with the absence of diabetes mellitus (DM) (p = 0. 056, 0. 072, and 0. 029, respectively).", "output": {"entities": {"gene": [{"text": "ACYP2", "start": 86, "end": 91}], "disease": [{"text": "diabetes mellitus", "start": 148, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The involvement of Met, p42/p44 MAPKinases and Stat3 in PAR (2)-mediated PCCA cell signaling was further supported by the findings that trypsin and the PAR (2)-selective agonist peptide, 2-furoyl-LIGRLO-NH (2), stimulated activating phosphorylation of these signaling molecules in cholangiocarcinoma cells.", "output": {"entities": {"gene": [{"text": "PCCA", "start": 73, "end": 77}], "disease": [{"text": "cholangiocarcinoma", "start": 281, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Here, we examined 33 candidate polymorphisms located in 11 pigmentation genes and the vitamin D receptor gene (VDR) in a population of 130 cutaneous melanoma patients and 707 healthy controls.", "output": {"entities": {"gene": [{"text": "VDR", "start": 111, "end": 114}], "disease": [{"text": "pigmentation", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Treatment by the PPARγ ligand rosiglitazone, but not PI3K modulators, rescued colorectal glandular dysmorphogenesis of PTEN deficiency.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 17, "end": 22}], "disease": [{"text": "dysmorphogenesis", "start": 99, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Of the 59 tumors analyzed, 12 were FUS/CREB3L2-positive, all of which were diagnosed at histopathologic re-examination as being LGFMS, of both the classical subtype and the subtype with giant collagen rosettes.", "output": {"entities": {"gene": [{"text": "FUS", "start": 35, "end": 38}], "disease": [{"text": "giant", "start": 186, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "The estimation of typical GLUT isoforms present on the peripheral blood lymphocytes, as well as the evaluation of insulin resistance indicators, are obviously insufficient for monitoring the metabolic disorders progression in the risk groups of type 2 diabetes.", "output": {"entities": {"gene": [{"text": "GLUT", "start": 26, "end": 30}], "disease": [{"text": "insulin resistance", "start": 114, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "FHH1, caused by mutations of the calcium-sensing receptor (CASR), occurs in more than 65% of patients, whereas the abnormalities underlying FHH2 and FHH3, which have each been described in single North American kindreds, are unknown.", "output": {"entities": {"gene": [{"text": "FHH2", "start": 140, "end": 144}], "disease": [{"text": "abnormalities", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "In the TCGA, miR-106a was significantly elevated in high-grade human prostate tumors relative to intermediate-and low-grade specimens.", "output": {"entities": {"gene": [{"text": "miR-106a", "start": 13, "end": 21}], "disease": [{"text": "prostate tumors", "start": 69, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-106a", "start": 13, "end": 21}, "tail": {"text": "prostate tumors", "start": 69, "end": 84}}]}}, "schema": []}
{"input": "EGFR activation results in a series of downstream signaling events that mediate cancer cell growth, proliferation, motility, adhesion, invasion, apoptosis inhibition and metastasis as well as resistance to chemotherapy.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "adhesion", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "A relationship may exist between these two types of teratogenesis due to the role of ADH in both retinol and ethanol metabolism and the ability of ethanol to competitively inhibit retinol oxidation.", "output": {"entities": {"gene": [{"text": "ADH", "start": 85, "end": 88}], "disease": [{"text": "teratogenesis", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In addition, conditioned medium of HO-1 +/+ MSC rescued functional and morphological changes associated with cisplatin-induced AKI, while the HO-1-/--conditioned medium was ineffectual.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 35, "end": 39}], "disease": [{"text": "AKI", "start": 127, "end": 130}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HO-1", "start": 35, "end": 39}, "tail": {"text": "AKI", "start": 127, "end": 130}}]}}, "schema": []}
{"input": "We previously reported that a gene in linkage disequilibrium with HLA-Bw54, DR4, and DRw53 might control the susceptibility to silicosis (K. Honda et al.", "output": {"entities": {"gene": [{"text": "DR4", "start": 76, "end": 79}], "disease": [{"text": "silicosis", "start": 127, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Methylation in 3 genes emerged as genome-wide-significant predictors of depression: DNA-Binding Protein Inhibitor ID-3 (ID3); Glutamate Receptor, Ionotropic N-methyl-D-aspartate (NMDA) 1 (GRIN1); and Tubulin Polymerization Promoting Protein (TPPP) (p < 5. 0 × 10 (-7), all analyses).", "output": {"entities": {"gene": [{"text": "TPPP", "start": 242, "end": 246}], "disease": [{"text": "depression", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "VEGF expression in metastatic renal cell carcinoma (mRCC) is mostly regulated by hypoxia, predominantly via the hypoxia-induced factor (HIF)/Von Hippel-Lindau (VHL) pathway.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In this report, we investigate three siblings affected by an unusually mild form of localized recessive dystrophic epidermolysis bullosa who were shown to be compound heterozygotes for novel mutations affecting COL7A1.", "output": {"entities": {"gene": [{"text": "COL7A1", "start": 211, "end": 217}], "disease": [{"text": "recessive dystrophic epidermolysis bullosa", "start": 94, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL7A1", "start": 211, "end": 217}, "tail": {"text": "recessive dystrophic epidermolysis bullosa", "start": 94, "end": 136}}]}}, "schema": []}
{"input": "Our results characterize two genes associated with PCD-causing mutations and elucidate two distinct mechanisms critical for motile cilia function: dynein arm assembly for C21orf59 and assembly of the nexin-dynein regulatory complex for CCDC65.", "output": {"entities": {"gene": [{"text": "C21orf59", "start": 171, "end": 179}], "disease": [{"text": "PCD", "start": 51, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C21orf59", "start": 171, "end": 179}, "tail": {"text": "PCD", "start": 51, "end": 54}}]}}, "schema": []}
{"input": "FISH and spectral karyotyping (SKY) in conjunction with G-banding analysis revealed a der (1) t (1; 17) (p36; q21) chromosomal translocation, which appeared in the clone developed from the original leukemic cells.", "output": {"entities": {"gene": [{"text": "SKY", "start": 31, "end": 34}], "disease": [{"text": "chromosomal translocation", "start": 115, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Thus, an increased adipose/muscle LPL ratio would partition dietary lipid into adipose tissue and would explain some of the variability in weight gain when humans are exposed to excess calories.", "output": {"entities": {"gene": [{"text": "LPL", "start": 34, "end": 37}], "disease": [{"text": "weight gain", "start": 139, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "An adenovirus (Ad-stTRAIL) delivering stTRAIL was injected into intra-cranial human glioma tumors established in nude mice and tumor growth monitored using the magnetic resonance imaging (MRI).", "output": {"entities": {"gene": [{"text": "MRI", "start": 188, "end": 191}], "disease": [{"text": "adenovirus", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Coincidentally, hypoxia-induced factor-1α (HIF1α) and vascular endothelial growth factor (VEGF) mRNA were significantly higher in EH-CA1a cells than in EH-CA1b cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 90, "end": 94}], "disease": [{"text": "hypoxia", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Our preliminary data suggest that the clinical utility of FISH assay of chromosomes 3, 7, 9, and 17 as a noninvasive ancillary test for the diagnosis of UUT-TCC in a selected patient population with asymptomatic hematuria and negative urine cytology and by significant high sensitivity and specificity may be a reliable diagnostic approach for early detection of UUT-TCC patients.", "output": {"entities": {"gene": [{"text": "FISH", "start": 58, "end": 62}], "disease": [{"text": "asymptomatic", "start": 199, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Such findings highlight the role of downregulation of RFC and FBP expression and provide mechanistic insight into the observed reduced folate transport efficiency at renal absorptive surfaces in alcoholism, which may result in low blood folate levels commonly observed in alcoholics.", "output": {"entities": {"gene": [{"text": "FBP", "start": 62, "end": 65}], "disease": [{"text": "alcoholism", "start": 195, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FBP", "start": 62, "end": 65}, "tail": {"text": "alcoholism", "start": 195, "end": 205}}]}}, "schema": []}
{"input": "Similar excess adhesion was observed with CX3CR1-IM-transfected human embryonic kidney (HEK) cell lines tested with two different methods: the parallel plate laminar flow chamber and the dual pipette aspiration technique.", "output": {"entities": {"gene": [{"text": "HEK", "start": 88, "end": 91}], "disease": [{"text": "aspiration", "start": 200, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Moderate weight reduction did not change gene expression levels of the GIPR gene (p = 0. 085).", "output": {"entities": {"gene": [{"text": "GIPR gene", "start": 71, "end": 80}], "disease": [{"text": "weight reduction", "start": 9, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Thus, we conducted a case-control study including 1064 breast cancer cases and 1073 cancer-free controls to evaluate the associations of 28 potentially functional polymorphisms in 12 core ARSs genes (AARS, CARS, EPRS, HARS, KARS, LARS, MARS, QARS, RARS, VARS, WARS, and YARS) with breast cancer risk.", "output": {"entities": {"gene": [{"text": "LARS", "start": 230, "end": 234}], "disease": [{"text": "breast cancer", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In order to determine the subunit composition of COX immunoblotting studies were performed using mono-and polyclonal antibodies to distinct subunits.", "output": {"entities": {"gene": [{"text": "COX", "start": 49, "end": 52}], "disease": [{"text": "mono", "start": 97, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.", "output": {"entities": {"gene": [{"text": "FBN2", "start": 8, "end": 12}], "disease": [{"text": "congenital contractural arachnodactyly", "start": 47, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN2", "start": 8, "end": 12}, "tail": {"text": "congenital contractural arachnodactyly", "start": 47, "end": 85}}]}}, "schema": []}
{"input": "ACTH-(1-24) antagonizes the cholestatic and constipating effects of morphine.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 0, "end": 4}], "disease": [{"text": "constipating", "start": 44, "end": 56}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 0, "end": 4}, "tail": {"text": "constipating", "start": 44, "end": 56}}]}}, "schema": []}
{"input": "No abnormalities involving tyrosine kinases were detected; however, nine cytogenetically cryptic copy number imbalances were detected in seven patients, including hemizygous deletions of RUNX1 or CEBPA in two cases with atypical chronic myeloid leukemia.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 196, "end": 201}], "disease": [{"text": "abnormalities", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.", "output": {"entities": {"gene": [{"text": "IFITM5", "start": 28, "end": 34}], "disease": [{"text": "osteogenesis imperfecta type V", "start": 97, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFITM5", "start": 28, "end": 34}, "tail": {"text": "osteogenesis imperfecta type V", "start": 97, "end": 127}}]}}, "schema": []}
{"input": "The objective was to assess the functional significance of 25-hydroxyvitamin D [25 (OH) D] deficiency, vitamin D receptor (VDR) gene, and parathyroid hormone (PTH) gene polymorphisms in relation to bone mineral density (BMD) in urban Asian Indians.", "output": {"entities": {"gene": [{"text": "PTH", "start": 159, "end": 162}], "disease": [{"text": "bone mineral density", "start": 198, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "most significantly induced HLJ1 expression and suppressed tumorigenesis both in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "HLJ1", "start": 27, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Because 5-HT induces release of S100beta, we investigated the codependence of 5-HT receptors and SERT in regulating S100A4/Mts1 in human pulmonary artery smooth muscle cells (hPA-SMC).", "output": {"entities": {"gene": [{"text": "S100A4", "start": 116, "end": 122}], "disease": [{"text": "codependence", "start": 62, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In order to gain insight into the roles of p53 and ceramide in gamma-radiation-induced glioma cell death, we used U87-W E6 and vector-infected U87-LXSN cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 114, "end": 117}], "disease": [{"text": "glioma", "start": 87, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "This study investigated genes involved in the regulation of neuroplasticity (BDNF, ST8SIA2), second messenger cascades (GSK3B, MAPK1, and CREB1), circadian rhythms (RORA), transcription (SP4, ZNF804A), and monoaminergic system (HTR2A and COMT) in the risk of neurological, psychic, autonomic, and other ADRs.", "output": {"entities": {"gene": [{"text": "SP4", "start": 187, "end": 190}], "disease": [{"text": "circadian rhythms", "start": 146, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "BRCA1 is required for homologous recombination-mediated DNA repair and deficiency results in genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "genomic instability", "start": 93, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Low oxygen (hypoxia) and transforming growth factor-β (TGF-β) are two major factors responsible for increased VEGF secretion.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 55, "end": 60}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "We conclude that through regulation of expression of DNA damage response genes, CycK/Cdk12 protects cells from genomic instability.", "output": {"entities": {"gene": [{"text": "CycK", "start": 80, "end": 84}], "disease": [{"text": "genomic instability", "start": 111, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Iodide uptake in a panel of non-prostate tumor cell lines infected with Ad-ARR (2) PB/hNIS was no more than 2, 500 cpm, demonstrating the tissue specificity of this construct.", "output": {"entities": {"gene": [{"text": "NIS", "start": 87, "end": 90}], "disease": [{"text": "prostate tumor", "start": 32, "end": 46}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NIS", "start": 87, "end": 90}, "tail": {"text": "prostate tumor", "start": 32, "end": 46}}]}}, "schema": []}
{"input": "Six genes (DAO, GRM3, GRM4, GRIN2B, IL2RB, and TUBA8) met this criterion for bipolar I disorder; only DAO has been previously associated with bipolar disorder.", "output": {"entities": {"gene": [{"text": "TUBA8", "start": 47, "end": 52}], "disease": [{"text": "bipolar disorder", "start": 142, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TUBA8", "start": 47, "end": 52}, "tail": {"text": "bipolar disorder", "start": 142, "end": 158}}]}}, "schema": []}
{"input": "Myxoid and round cell liposarcoma share the same characteristic chromosome change: t (12; 16) (q13; p11) in most cases.", "output": {"entities": {"gene": [{"text": "p11", "start": 100, "end": 103}], "disease": [{"text": "round cell liposarcoma", "start": 11, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "In the entire group of breast tumors, the percentages of ER-and PR-positive cells were registered in the epithelial subfraction, in combination with DNA ploidy and S phase fraction (SPF).", "output": {"entities": {"gene": [{"text": "SPF", "start": 182, "end": 185}], "disease": [{"text": "breast tumors", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus.", "output": {"entities": {"gene": [{"text": "CISD2", "start": 34, "end": 39}], "disease": [{"text": "deafness", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In addition, suppression of GCN5 with its specific inhibitor CPTH2 inhibited human colon cancer cell growth.", "output": {"entities": {"gene": [{"text": "GCN5", "start": 28, "end": 32}], "disease": [{"text": "colon cancer", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Previous [35S] methionine-labeling studies of fibroblasts from IVA patients have revealed at least five classes of mutations within the IVD gene.", "output": {"entities": {"gene": [{"text": "IVD", "start": 136, "end": 139}], "disease": [{"text": "IVA", "start": 63, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IVD", "start": 136, "end": 139}, "tail": {"text": "IVA", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "As shown in this report, identification and characterization of SR-BI expression in the rabbit affords a powerful tool to elucidate the role of SR-BI in cholesterol homeostasis and atherogenesis in human.", "output": {"entities": {"gene": [{"text": "SR-BI", "start": 64, "end": 69}], "disease": [{"text": "atherogenesis", "start": 181, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Our findings, combined with evidence from preclinical and animal studies, suggest that HOMER1 plays a role in the etiology of major depression and that the genetic variation affects depression via the dysregulation of cognitive and motivational processes.", "output": {"entities": {"gene": [{"text": "HOMER1", "start": 87, "end": 93}], "disease": [{"text": "major depression", "start": 126, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOMER1", "start": 87, "end": 93}, "tail": {"text": "major depression", "start": 126, "end": 142}}]}}, "schema": []}
{"input": "Next, to elucidate the effects of endogenous wt-and mut-p53s, a transfection assay and Northern blot analysis for VEGF transcription under hypoxia were performed by using isogenic variants of HT1080 cells differing in their p53 status.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 114, "end": 118}], "disease": [{"text": "hypoxia", "start": 139, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "All three of these lymphomas harbored the bcl-2-Ig fusion gene associated with the chromosomal translocation t (14; 18).", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 42, "end": 47}], "disease": [{"text": "chromosomal translocation", "start": 83, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "One novel mutation, a G--& gt; A transition (2157G--& gt; A) in exon 15 of the PTCH2 gene, was identified in this family with NBCCS by direct sequencing and digestion with the AvaI restriction enzyme.", "output": {"entities": {"gene": [{"text": "PTCH2", "start": 79, "end": 84}], "disease": [{"text": "NBCCS", "start": 126, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTCH2", "start": 79, "end": 84}, "tail": {"text": "NBCCS", "start": 126, "end": 131}}]}}, "schema": []}
{"input": "], miR-142-3p (AUC = 0. 668, P = 0. 002), miR-199a-3p (AUC = 0. 668, P = 0. 002), miR-23a (AUC = 0. 637, P = 0. 010), miR-27b (AUC = 0. 642, P = 0. 008), miR-324-5p (AUC = 0. 621, P = 0. 023), and miR-342-3p (AUC = 0. 644, P = 0. 007) were associated with HF diagnosis in regression and receiver operating characteristic (ROC) analyses.", "output": {"entities": {"gene": [{"text": "miR-27b", "start": 118, "end": 125}], "disease": [{"text": "regression", "start": 272, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "When dermal and synovial fibroblasts were stimulated identically by hypoxia and cytokines (TGF-beta and IL-1), synovial fibroblasts secreted four times more VEGF than did dermal fibroblasts.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 91, "end": 99}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "How HSD17B6, an enzyme involved in steroid metabolism, may influence BMI and insulin resistance in PCOS remains to be determined.", "output": {"entities": {"gene": [{"text": "HSD17B6", "start": 4, "end": 11}], "disease": [{"text": "insulin resistance", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Nonparametric linkage (NPL) regression provided modest evidence of linkage to 9p21. 3 near D9S1121 (logarithm of odds [LOD] = 2. 03), 1q25. 1 near D1S1589 (LOD = 1. 62), and 13q33. 3 near D13S796 (LOD = 1. 02).", "output": {"entities": {"gene": [{"text": "NPL", "start": 23, "end": 26}], "disease": [{"text": "regression", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The calcium-activated chloride channel anoctamin 1 (ANO1) is located within the 11q13 amplicon, one of the most frequently amplified chromosomal regions in human cancer, but its functional role in tumorigenesis has remained unclear.", "output": {"entities": {"gene": [{"text": "ANO1", "start": 52, "end": 56}], "disease": [{"text": "tumorigenesis", "start": 197, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.", "output": {"entities": {"gene": [{"text": "BCKDHA", "start": 82, "end": 88}], "disease": [{"text": "maple syrup urine disease", "start": 27, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCKDHA", "start": 82, "end": 88}, "tail": {"text": "maple syrup urine disease", "start": 27, "end": 52}}]}}, "schema": []}
{"input": "The clinical phenotype of FAF possesses several neurological characteristics with multiple cranial nerve signs, in addition to a peculiar exanthema of \" lichen amyloidosus \" and pendulous skin \" cutis laxa \", and the carpal tunnel syndrome.", "output": {"entities": {"gene": [{"text": "FAF", "start": 26, "end": 29}], "disease": [{"text": "exanthema", "start": 138, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In this study, we have characterized a recurrent fusion of the first three exons of HMGA2 5' to the G protein-coupled receptor gene (RDC1) in lipomas with rearrangements involving chromosome bands 2q35-37 and 12q13-15, one of several recurrent chromosomal rearrangements in lipomas.", "output": {"entities": {"gene": [{"text": "RDC1", "start": 133, "end": 137}], "disease": [{"text": "lipomas", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "To correlate the presence of renal agenesis/dysgenesis to the prevalence of KAL1 gene defects in patients with sporadic Kallmann syndrome (KS).", "output": {"entities": {"gene": [{"text": "KAL1 gene", "start": 76, "end": 85}], "disease": [{"text": "sporadic", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the correlation between apelin and retinopathy of prematurity (ROP), between apelin and the other known angiogenic cytokines including vascular endothelial growth factor (VEGF) and hypoxia-induced factor-1a (HIF-1a).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 212, "end": 216}], "disease": [{"text": "hypoxia", "start": 222, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "TPMT activity in children with persistent splenomegaly was also lower than that in control subjects (median difference, 1. 6 U; 95% confidence interval, 0. 3-2. 8 U; P =. 012).", "output": {"entities": {"gene": [{"text": "TPMT", "start": 0, "end": 4}], "disease": [{"text": "splenomegaly", "start": 42, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we improved the drug-like properties of WP1130 and demonstrated that the novel compound EOAI3402143 dose-dependently inhibited Usp9x and Usp24 activity, increased tumor cell apoptosis, and fully blocked or regressed myeloma tumors in mice.", "output": {"entities": {"gene": [{"text": "Usp24", "start": 150, "end": 155}], "disease": [{"text": "tumors", "start": 237, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "The abundance of oocyte-specific Bnc1, Dppa3, and Pou5f1 mRNAs as well as markers of proinflammatory signaling were significantly increased in ovaries of obese compared with lean mice which were depleted of fully grown preovulatory follicles.", "output": {"entities": {"gene": [{"text": "Bnc1", "start": 33, "end": 37}], "disease": [{"text": "obese", "start": 154, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Since in each tumour, epithelial and spindle cell components harbour the same type of translocation t (X; 18) the present findings suggest a shifting of the anti-apoptotic role from BCL2 to c-KIT gene during the transition from the uncommitted spindle to the differentiated epithelial cells.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 182, "end": 186}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Partial silencing of JPH2 expression in HL-1 cells by a small interfering RNA probe targeted to murine JPH2 mRNA (shJPH2) resulted in myocyte hypertrophy and increased expression of known markers of cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "JPH2", "start": 21, "end": 25}], "disease": [{"text": "cardiac hypertrophy", "start": 199, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "The bcl-2 gene product is not altered by the translocation, but its expression is deregulated, presumably by the Igh enhancer E mu.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 4, "end": 14}], "disease": [{"text": "translocation", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We have identified two estrogen regulated gene products in the E (2) growth inhibited human breast cancer xenograft, T61; one showing 100% homology to the human BAC clone RP11-112E16, the other 100% homology to the human CPR3/DNJ3 gene.", "output": {"entities": {"gene": [{"text": "DNJ3", "start": 226, "end": 230}], "disease": [{"text": "breast cancer", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Enforced expression of JAK2 V617F in mice induces myeloproliferation and bone marrow (BM) fibrosis, suggesting a causal role for the JAK2 mutant in the pathogenesis of MPNs.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 23, "end": 27}], "disease": [{"text": "fibrosis", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether alteration of the phospho-BAD protein and somatic mutation of BAD gene are characteristics of human hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "BAD gene", "start": 85, "end": 93}], "disease": [{"text": "somatic mutation", "start": 65, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The chromosomal translocation t (8; 21) fuses the AML1 (RUNX1) gene on chromosome 21 and the ETO gene on chromosome 8 in human acute myeloid leukemias (AMLs), resulting in expression of the chimeric transcription factor AML1/ETO.", "output": {"entities": {"gene": [{"text": "AML1", "start": 50, "end": 54}], "disease": [{"text": "chromosomal translocation", "start": 4, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Additionally, a mutation of the p53 gene (TP53) in exon 5 was found by sequence analysis in the ameloblastic carcinoma.", "output": {"entities": {"gene": [{"text": "TP53", "start": 42, "end": 46}], "disease": [{"text": "ameloblastic carcinoma", "start": 96, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Relevant to PD, STEP61 accumulates in the striatum of human sporadic PD and in 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine (MPTP)-lesioned mice.", "output": {"entities": {"gene": [{"text": "STEP61", "start": 16, "end": 22}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "For these reasons, we investigated the possibility that PPND and other FTDP-17 syndromes might be caused by mutations in the tau gene.", "output": {"entities": {"gene": [{"text": "tau", "start": 125, "end": 128}], "disease": [{"text": "FTDP-17", "start": 71, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tau", "start": 125, "end": 128}, "tail": {"text": "FTDP-17", "start": 71, "end": 78}}]}}, "schema": []}
{"input": "Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs.", "output": {"entities": {"gene": [{"text": "MIM", "start": 29, "end": 32}], "disease": [{"text": "neurological disorder", "start": 53, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we tested whether insulin resistance is specifically associated with genetic variation in FTO in women with PCOS.", "output": {"entities": {"gene": [{"text": "FTO", "start": 103, "end": 106}], "disease": [{"text": "insulin resistance", "start": 31, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Novel mutation (p. L91P, c. 272T & gt; C) of keratin 17 in a case with pachyonychia congenita type 2.", "output": {"entities": {"gene": [{"text": "keratin 17", "start": 45, "end": 55}], "disease": [{"text": "pachyonychia congenita type 2", "start": 71, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 17", "start": 45, "end": 55}, "tail": {"text": "pachyonychia congenita type 2", "start": 71, "end": 100}}]}}, "schema": []}
{"input": "Either TWEAK treatment or Fn14 overexpression in glioma cells resulted in the activation of NFkappaB and subsequently the translocation of NFkappaB from the cytoplasm to the nucleus.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 7, "end": 12}], "disease": [{"text": "translocation", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Using data from the Collaborative Study on the Genetics of Alcoholism data set, we found evidence suggesting linkage disequilibrium between DRD2 and ADH3 and quantitative indices of alcoholism and correlated phenotypes corresponding to smoking and personality.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 140, "end": 144}], "disease": [{"text": "smoking", "start": 236, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "We treated two immortalized glioma cell lines, T98 and U87, and 10 patient-derived primary glioma cell lines with trichostatin A (TSA), a histone deacetylase inhibitor, or 5-aza-2'-deoxycytidine (5-AzaC), a DNA methyltransferase inhibitor, to comprehensively identify the cohort of genes reactivated through the pharmacologic reversal of these distinct but related epigenetic processes.", "output": {"entities": {"gene": [{"text": "U87", "start": 55, "end": 58}], "disease": [{"text": "glioma", "start": 28, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-8 increases vascular endothelial growth factor and neuropilin expression and stimulates ERK activation in human pancreatic cancer.", "output": {"entities": {"gene": [{"text": "Interleukin-8", "start": 0, "end": 13}], "disease": [{"text": "pancreatic cancer", "start": 124, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Interleukin-8", "start": 0, "end": 13}, "tail": {"text": "pancreatic cancer", "start": 124, "end": 141}}]}}, "schema": []}
{"input": "In offspring only, the Pro12Ala polymorphism of the PPAR-gamma2 gene appeared to enhance weight changes brought about by exercise (Deltaweight =-0. 3 +/-1. 4 kg vs.-1. 8 +/-1. 8 kg; p < 0. 05; (Pro/Pro vs. Pro/Ala + Ala/Ala)-suggesting possible gene-environment or gene-gene interactions.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 52, "end": 56}], "disease": [{"text": "weight changes", "start": 89, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We performed molecular scanning of the human type 2 deiodinase (DIO2) gene and evaluated a novel variant for associations with obesity and insulin resistance, assessing both the main effect and interaction with the Trp64Arg beta-3--adrenergic receptor (ADRB3) variant.", "output": {"entities": {"gene": [{"text": "DIO2", "start": 64, "end": 68}], "disease": [{"text": "insulin resistance", "start": 139, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The present review specifically discusses the role of the IGF1-PI3-K pathway in the setting of heart disease.", "output": {"entities": {"gene": [{"text": "PI3", "start": 63, "end": 66}], "disease": [{"text": "heart disease", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "This study was designed to characterize a putative role of KGF in observed histomorphological changes in both, human and experimental liver fibrosis.", "output": {"entities": {"gene": [{"text": "KGF", "start": 59, "end": 62}], "disease": [{"text": "liver fibrosis", "start": 134, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KGF", "start": 59, "end": 62}, "tail": {"text": "liver fibrosis", "start": 134, "end": 148}}]}}, "schema": []}
{"input": "Among 331 candidate HCC markers, the three AKT kinase family members (AKT1-AKT3) were selected for clinical validation by immunohistochemistry analysis using 130 HCC specimens and matched adjacent non-neoplastic liver tissues.", "output": {"entities": {"gene": [{"text": "AKT", "start": 43, "end": 46}], "disease": [{"text": "non-neoplastic", "start": 197, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Notably, expression of HCV nonstructural component NS5A in Huh7 or primary hepatocytes stimulated PEPCK gene expression and glucose output in HepG2 cells, whereas a deletion in NS5A reduced PEPCK expression and lowered cellular lipids but was without effect on insulin resistance, as demonstrated by the inability of insulin to stimulate mobilization of a pool of insulin-responsive vesicles to the plasma membrane.", "output": {"entities": {"gene": [{"text": "Huh7", "start": 59, "end": 63}], "disease": [{"text": "insulin resistance", "start": 261, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "We investigated the androgen receptor gene GGN polymorphism and its relation to male infertility and receptor function.", "output": {"entities": {"gene": [{"text": "GGN", "start": 43, "end": 46}], "disease": [{"text": "male infertility", "start": 80, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Two human glioma cell lines, U87 and U251, were transfected with Ad5F35-IL24 via recombinant adenovirus-mediated gene transfer and apoptosis, as well as PKR and eIF-2α expression analyzed.", "output": {"entities": {"gene": [{"text": "U87", "start": 29, "end": 32}], "disease": [{"text": "glioma", "start": 10, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "In adipose tissue from study participants with the DD genotype, the mutation resulted in the absence of HSL protein, small adipocytes, impaired lipolysis, insulin resistance, and inflammation.", "output": {"entities": {"gene": [{"text": "HSL", "start": 104, "end": 107}], "disease": [{"text": "inflammation", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "In the present study, sequencing analysis revealed 10 different mutations in the PPOX gene in 14 out of 17 apparently unrelated Swedish VP families.", "output": {"entities": {"gene": [{"text": "PPOX", "start": 81, "end": 85}], "disease": [{"text": "VP", "start": 136, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PPOX", "start": 81, "end": 85}, "tail": {"text": "VP", "start": 136, "end": 138}}]}}, "schema": []}
{"input": "PDGF-A, PDGF-B, TGFbeta, and bFGF mRNA levels in patients with essential thrombocythemia treated with anagrelide.", "output": {"entities": {"gene": [{"text": "TGFbeta", "start": 16, "end": 23}], "disease": [{"text": "essential thrombocythemia", "start": 63, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGFbeta", "start": 16, "end": 23}, "tail": {"text": "essential thrombocythemia", "start": 63, "end": 88}}]}}, "schema": []}
{"input": "Moreover, this over-expression of MCT4 was closely associated with tumor size, TNM classification, lymphatic metastasis, distant metastasis and tumor recurrence, and also poor prognosis.", "output": {"entities": {"gene": [{"text": "MCT4", "start": 34, "end": 38}], "disease": [{"text": "lymphatic metastasis", "start": 99, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The renal tissue from patients with MGN, MCD, focal segmental glomerulosclerosis, acute tubulointerstitial nephritis, diabetic nephropathy, immunoglobulin (Ig) A nephropathy, hypertensive nephrosclerosis, IgM nephropathy, amyloidosis and glomerulosclerosis were studied for the expression of cytokines (tumor necrosis factor, [TNF]-alpha, interleukin [IL]-1 beta, IL-2, IL-4, IL-8 and IL-10) by reverse transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "TNF", "start": 327, "end": 330}], "disease": [{"text": "acute tubulointerstitial nephritis", "start": 82, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Microsatellite instability correlates with antrally located intestinal-type carcinoma, with little metastatic tendency and a better prognosis; microsatellite instability frequently involves the TGF beta RII, IGF II R genes or the BAX proapoptotic gene, in as much as these contain microsatellite sequences; 3) alterations of E-cadherin, both with regards to mutations and abnormal expression.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 325, "end": 335}], "disease": [{"text": "microsatellite instability", "start": 143, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "CISS hybridization makes it possible to detect individual chromosomes and chromosome aberrations using recombinant DNA libraries from sorted human chromosomes.", "output": {"entities": {"gene": [{"text": "CISS", "start": 0, "end": 4}], "disease": [{"text": "chromosome aberrations", "start": 74, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Intriguingly, the patient remained normocalcaemic throughout childhood (2. 5 mM corrected calcium, 11 pg/ml PTH (10-71), age 8 years) but exhibited mild asymptomatic hypocalcaemia at age 10 years, now treated with 1-hydroxycholecalciferol and Ca2 + supplementation.", "output": {"entities": {"gene": [{"text": "PTH", "start": 108, "end": 111}], "disease": [{"text": "mild", "start": 148, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.", "output": {"entities": {"gene": [{"text": "ARL3", "start": 35, "end": 39}], "disease": [{"text": "Retinitis Pigmentosa", "start": 88, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARL3", "start": 35, "end": 39}, "tail": {"text": "Retinitis Pigmentosa", "start": 88, "end": 108}}]}}, "schema": []}
{"input": "Androgen receptor prevalence was higher but androgenic enzymes lower in ILC than non-neoplastic lobules.", "output": {"entities": {"gene": [{"text": "Androgen receptor", "start": 0, "end": 17}], "disease": [{"text": "non-neoplastic", "start": 81, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We investigated the antinociceptive effect of microinjection of HSV-1 amplicon vector-mediated human proenkephalin (hPPE) into the ventral periaqueductal grey (PAG) on neuropathic pain in rats.", "output": {"entities": {"gene": [{"text": "PAG", "start": 160, "end": 163}], "disease": [{"text": "neuropathic pain", "start": 168, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Telomerase activity was examined in 170 human brain tumor tissues, and terminal restriction fragment (TRF) length was examined in 152 of the 170.", "output": {"entities": {"gene": [{"text": "TRF", "start": 102, "end": 105}], "disease": [{"text": "brain tumor", "start": 46, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Roles of versican in cancer biology--tumorigenesis, progression and metastasis.", "output": {"entities": {"gene": [{"text": "versican", "start": 9, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that, in h-IBM muscle, hyposialylated NEP has a role in hampering the cellular Abeta clearing system, thus contributing to its abnormal accumulation within vulnerable fibers and possibly promoting muscle degeneration.", "output": {"entities": {"gene": [{"text": "NEP", "start": 53, "end": 56}], "disease": [{"text": "muscle degeneration", "start": 212, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Analysis of a larger panel of tumors from patients receiving presurgical taxane-based treatment showed that DEFA and MAP2 expression as well as histologic features of inflammation were all statistically associated with response to therapy at the time of surgery.", "output": {"entities": {"gene": [{"text": "MAP2", "start": 117, "end": 121}], "disease": [{"text": "tumors", "start": 30, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Activating transcription factor 3 promotes colon cancer metastasis.", "output": {"entities": {"gene": [{"text": "transcription factor 3", "start": 11, "end": 33}], "disease": [{"text": "colon cancer", "start": 43, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The TFG-TEC fusion gene created by the t (3; 9) translocation in human extraskeletal myxoid chondrosarcomas encodes a more potent transcriptional activator than TEC.", "output": {"entities": {"gene": [{"text": "TFG", "start": 4, "end": 7}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Given the known involvement of CLDN14 gene in NSHL, DNA samples from hearing-impaired members from the four families were sequenced to potentially identify causal variants within this gene.", "output": {"entities": {"gene": [{"text": "CLDN14", "start": 31, "end": 37}], "disease": [{"text": "hearing-impaired", "start": 69, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CLDN14", "start": 31, "end": 37}, "tail": {"text": "hearing-impaired", "start": 69, "end": 85}}]}}, "schema": []}
{"input": "B19 infection was thus demonstrated in six out of 53 unselected children with malignancies by bone marrow examination, using the B19, DNA-specific, polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "B19", "start": 0, "end": 3}], "disease": [{"text": "malignancies", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) translocation juxtaposes the bcl-2 gene on chromosome 18 to a joining (J) gene segment of the immunoglobulin heavy chain gene (IgH) on chromosome 14.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 44, "end": 54}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Skeletal myxoid chondrosarcoma (SMC) is considered to be either a typical chondrosarcoma with prominent myxoid alterations or an altogether unique malignant cartilage tumor.", "output": {"entities": {"gene": [{"text": "SMC", "start": 32, "end": 35}], "disease": [{"text": "myxoid chondrosarcoma", "start": 9, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "WES in three Dutch siblings with RP revealed a complex HGSNAT variant, c. [398G & gt; C; 1843G & gt; A] on one allele, and c. 1843G & gt; A on the other allele.", "output": {"entities": {"gene": [{"text": "HGSNAT", "start": 55, "end": 61}], "disease": [{"text": "RP", "start": 33, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGSNAT", "start": 55, "end": 61}, "tail": {"text": "RP", "start": 33, "end": 35}}]}}, "schema": []}
{"input": "Our results suggest that the EMP1 gene may be implicated in the pathophysiology of MDD in the Japanese population.", "output": {"entities": {"gene": [{"text": "EMP1", "start": 29, "end": 33}], "disease": [{"text": "MDD", "start": 83, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EMP1", "start": 29, "end": 33}, "tail": {"text": "MDD", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "We demonstrated that SULF2 expression in primary multiple myeloma cells was associated with a poor prognosis in two independent large cohorts of patients.", "output": {"entities": {"gene": [{"text": "SULF2", "start": 21, "end": 26}], "disease": [{"text": "multiple myeloma", "start": 49, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The mutator phenotype of a defective MMR system is MSI (microsatellite instability), which also occurs in approx.", "output": {"entities": {"gene": [{"text": "MMR", "start": 37, "end": 40}], "disease": [{"text": "microsatellite instability", "start": 56, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Cultured fibroblast ARSB mutant protein and residual activity were determined for each patient, and, together with genotype information, were used to predict the expected clinical severity of each MPS VI patient.", "output": {"entities": {"gene": [{"text": "ARSB", "start": 20, "end": 24}], "disease": [{"text": "MPS VI", "start": 197, "end": 203}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARSB", "start": 20, "end": 24}, "tail": {"text": "MPS VI", "start": 197, "end": 203}}]}}, "schema": []}
{"input": "Future studies should exploit DNA-based methods and molecular investigations on the role of SELENBP1 in order to gain insights into the nature of its influence on schizophrenia and psychotic symptoms.", "output": {"entities": {"gene": [{"text": "SELENBP1", "start": 92, "end": 100}], "disease": [{"text": "psychotic", "start": 181, "end": 190}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SELENBP1", "start": 92, "end": 100}, "tail": {"text": "psychotic", "start": 181, "end": 190}}]}}, "schema": []}
{"input": "Thus, caspase-8 deficiency in humans is compatible with normal development and shows that caspase-8 has a postnatal role in immune activation of naive lymphocytes.", "output": {"entities": {"gene": [{"text": "caspase-8", "start": 6, "end": 15}], "disease": [{"text": "caspase-8 deficiency", "start": 6, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "caspase-8", "start": 6, "end": 15}, "tail": {"text": "caspase-8 deficiency", "start": 6, "end": 26}}]}}, "schema": []}
{"input": "These EBV-positive lymphoproliferative disorders (EBV (+) LPD) of childhood are related to, but distinct from the infectious mononucleosis-like CAEBV seen in Western populations.", "output": {"entities": {"gene": [{"text": "LPD", "start": 58, "end": 61}], "disease": [{"text": "infectious mononucleosis", "start": 114, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We found statistically significant differences between pretreatment and posttreatment body mass index and weight change in Pro12Ala polymorphism of PPAR-gamma2.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 148, "end": 152}], "disease": [{"text": "weight change", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In experimental and clinical neuroblastoma NESP55 immunoreactivity was specific for regions of chronic hypoxia.", "output": {"entities": {"gene": [{"text": "NESP55", "start": 43, "end": 49}], "disease": [{"text": "neuroblastoma", "start": 29, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NESP55", "start": 43, "end": 49}, "tail": {"text": "neuroblastoma", "start": 29, "end": 42}}]}}, "schema": []}
{"input": "While K2P1. 1, K2P3. 1, K2P5. 1, K2P6. 1, K2P7. 1 and K2P10. 1 showed significant underexpression across the cancer types examined.", "output": {"entities": {"gene": [{"text": "K2P7. 1", "start": 42, "end": 49}], "disease": [{"text": "cancer", "start": 109, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We performed in situ hybridization to assess hippocampal expression of the transcripts encoding NMDA receptor subunits NR1, 2A, 2B, 2C and 2D, and the transcripts for the NMDA receptor associated PSD proteins PSD95, PSD93, NF-L, and SAP102 in subjects with schizophrenia, bipolar affective disorder I, and a comparison group.", "output": {"entities": {"gene": [{"text": "PSD95", "start": 209, "end": 214}], "disease": [{"text": "bipolar affective disorder", "start": 272, "end": 298}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD95", "start": 209, "end": 214}, "tail": {"text": "bipolar affective disorder", "start": 272, "end": 298}}]}}, "schema": []}
{"input": "To recognize patients with inhibitory and neutralizing auto-antibodies to interferon-γ (AutoAbs-IFN-γ) presenting with the sporadic phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) mainly characterized by recurrent intracellular mycobacterium or/and salmonella infections, we comprehensively investigated IL12/23-IFN-γ signaling, candidate genetic sequencings or/and protein expressions of IL12RB1, IFNRG1, IL12p40, IFNRG2, STAT1, IKKA, NEMO, CYBB and IRF8 in four patients.", "output": {"entities": {"gene": [{"text": "IRF8", "start": 473, "end": 477}], "disease": [{"text": "sporadic", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Oxidized LDL has been shown to increase HO-1 expression in endothelial and smooth muscle cell cultures, and during atherogenesis.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 40, "end": 44}], "disease": [{"text": "atherogenesis", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The identified GNA11 mutation results in biochemical abnormalities typical for ADH.", "output": {"entities": {"gene": [{"text": "GNA11", "start": 15, "end": 20}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "As a result of this translocation the SU-DUL5 cell line contains no detectable bcl-2 mRNA or protein but has abundant levels of c-myc mRNA.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 79, "end": 84}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "At 28 days after MI, infarct size, left ventricular dimensions, ejection fraction, E wave/A wave ratio and capillary density of the infarcted region were most improved in the VEGF group, compared with the medium group.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 175, "end": 179}], "disease": [{"text": "infarct", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this article is to correlate detailed clinical information with molecular data in order to improve our understanding of the genotype-phenotype correlation of RSH/SLOS and to report the development of PCR-based assays that will allow more rapid mutation analysis.", "output": {"entities": {"gene": [{"text": "SLOS", "start": 177, "end": 181}], "disease": [{"text": "RSH", "start": 173, "end": 176}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLOS", "start": 177, "end": 181}, "tail": {"text": "RSH", "start": 173, "end": 176}}]}}, "schema": []}
{"input": "A20/TNFAIP3, a new estrogen-regulated gene that confers tamoxifen resistance in breast cancer cells.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 19, "end": 42}], "disease": [{"text": "breast cancer", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND AND AIM: Although gastroesophageal reflux disease (GERD) is a risk factor for esophageal adenocarcinoma (EAC), some patients develop EAC in the absence of GERD.", "output": {"entities": {"gene": [{"text": "AIM", "start": 15, "end": 18}], "disease": [{"text": "esophageal adenocarcinoma", "start": 89, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "In 2011 he developed jaundice, pruritus and epigastric pain. He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14, 600, 000 IU/mL).", "output": {"entities": {"gene": [{"text": "AST", "start": 97, "end": 100}], "disease": [{"text": "epigastric pain", "start": 44, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The most common haplotype of the TNF gene (TNF-ht1 [GGTCCGG]) was associated with total serum IgE (immunoglobulin E) levels in asthma patients, especially in non-atopic patients (P = 0. 004).", "output": {"entities": {"gene": [{"text": "TNF", "start": 33, "end": 36}], "disease": [{"text": "atopic", "start": 162, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that single nucleotide polymorphisms (SNPs) in the melatonin receptor 1A gene (MTNR1A) might influence the risk of calcium nephrolithiasis.", "output": {"entities": {"gene": [{"text": "MTNR1A", "start": 95, "end": 101}], "disease": [{"text": "calcium nephrolithiasis", "start": 131, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Overall, 61 significant associations (P < or = 0. 01) were found between SNPs belonging to cytokine receptor genes regulating T helper (Th) 1 (IL12RB2, IL2RA and B) and Th2 (IL4R and IL10RB) immunity, and cytokine (IL1B, TNFA, IL6 and IFNB1) and cytokine receptor (IL1RA, IFNAR2, IL18R1, TNFRSF1A and B) genes regulating innate immunity and variations in antibody levels to measles, mumps and/or rubella.", "output": {"entities": {"gene": [{"text": "IL1B", "start": 215, "end": 219}], "disease": [{"text": "mumps", "start": 383, "end": 388}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that phosphorylation of PLS3 by PKC-delta is involved in the hyperthermia-induced apoptotic signal transduction pathway in Tca8113 cells, and that Hsp27 blocks this pathway to suppress hyperthermia-induced apoptosis.", "output": {"entities": {"gene": [{"text": "PLS3", "start": 45, "end": 49}], "disease": [{"text": "hyperthermia", "start": 82, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "While RUNX1 activates the LIFR general promoter, the oncogenic RUNX1-ETO fusion protein generated by the t (8; 21) translocation commonly associated with acute myeloid leukemia represses promoter activity.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 6, "end": 11}], "disease": [{"text": "translocation", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "This report presents the preliminary results of the first phase (21 months) of a multi-centre, non-randomised, prospective study, aimed at evaluating the effectiveness of contrast-enhanced magnetic resonance imaging (MRI), X-ray mammography (XM) and ultrasound (US) in early diagnosis of breast cancer (BC) in subjects at high genetic risk.", "output": {"entities": {"gene": [{"text": "MRI", "start": 217, "end": 220}], "disease": [{"text": "breast cancer", "start": 288, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "Diagnostic value of cytokeratin 7 and parvalbumin in differentiating chromophobe renal cell carcinoma from renal oncocytoma.", "output": {"entities": {"gene": [{"text": "parvalbumin", "start": 38, "end": 49}], "disease": [{"text": "chromophobe renal cell carcinoma", "start": 69, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "parvalbumin", "start": 38, "end": 49}, "tail": {"text": "chromophobe renal cell carcinoma", "start": 69, "end": 101}}]}}, "schema": []}
{"input": "Also the LEPR Q223R SNP showed a significant association with weight at birth (QQ, QR and RR (95% CI): 2492 (2431-2554), 2545 (2495-2595) and 2655 (2571-2740) gram; P (additive) = 0. 003).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 9, "end": 13}], "disease": [{"text": "weight", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Melatonin and its membrane receptor agonists (Mel1a-1b and Mel1b), but not its putative nuclear receptor agonist (Mel2), inhibited the growth of uveal melanoma cells, but not normal melanocytes, at very low concentrations.", "output": {"entities": {"gene": [{"text": "Mel1b", "start": 59, "end": 64}], "disease": [{"text": "uveal melanoma", "start": 145, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The localization of one of the X chromosome translocation breakpoints in YAC clone 957F9, that was demonstrated to map distally to the factor IX gene, revealed the complexity of this chromosomal rearrangement.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 135, "end": 144}], "disease": [{"text": "chromosome translocation", "start": 33, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "GLT-1 loss also caused an apparent compensatory increase in IDE activity in the liver, an organ that has been shown to regulate peripheral amyloid-β levels and expresses GLT-1.", "output": {"entities": {"gene": [{"text": "GLT-1", "start": 0, "end": 5}], "disease": [{"text": "amyloid", "start": 139, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "In addition to identifying LTA as a major gene associated with early-onset leprosy, our study highlights the critical role of case-and population-specific factors in the dissection of susceptibility variants in complex diseases.", "output": {"entities": {"gene": [{"text": "LTA", "start": 27, "end": 30}], "disease": [{"text": "leprosy", "start": 75, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LTA", "start": 27, "end": 30}, "tail": {"text": "leprosy", "start": 75, "end": 82}}]}}, "schema": []}
{"input": "To investigate the molecular mechanisms for this insulin resistance, we examined the expression of GLUT1 and GLUT4, glucose transporter genes in vastus lateralis muscle from 20 IDDM subjects and 10 nondiabetic controls.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 99, "end": 104}], "disease": [{"text": "insulin resistance", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "As a consequence house dust mite-and IL-33-driven lung inflammation, late phase cutaneous anaphylaxis, and collagen-induced arthritis were aggravated, in contrast to experimental autoimmune encephalomyelitis and immediate anaphylaxis.", "output": {"entities": {"gene": [{"text": "IL-33", "start": 37, "end": 42}], "disease": [{"text": "lung inflammation", "start": 50, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-33", "start": 37, "end": 42}, "tail": {"text": "lung inflammation", "start": 50, "end": 67}}]}}, "schema": []}
{"input": "Using telomere-FISH (telo-FISH) assays, telomere lengths in premalignant and malignant cervical and endometrial lesions were measured and compared with chromosomal arm loss or gain.", "output": {"entities": {"gene": [{"text": "FISH", "start": 15, "end": 19}], "disease": [{"text": "premalignant", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "No other amygdala nuclei studied showed any significant differences for the prodynorphin mRNA levels measured in the major depression and bipolar disorder subjects.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 76, "end": 88}], "disease": [{"text": "bipolar disorder", "start": 138, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 76, "end": 88}, "tail": {"text": "bipolar disorder", "start": 138, "end": 154}}]}}, "schema": []}
{"input": "Semiquantitative reverse transcription-polymerase chain reaction was used to compare expression levels of osteocalcin, core-binding factor alpha 1, and MSX2 in 34 osteosarcoma, five fibrous dysplasia, and five myositis ossificans specimens, as well as in seven normal cortical bone samples.", "output": {"entities": {"gene": [{"text": "MSX2", "start": 152, "end": 156}], "disease": [{"text": "myositis ossificans", "start": 210, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Whereas hypoxia alone moderately stimulated endoglin transcription, addition of TGF-beta under hypoxic conditions resulted in transcriptional cooperation between both signaling pathways, leading to marked stimulation of endoglin expression.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 80, "end": 88}], "disease": [{"text": "hypoxic", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the importance of the LKB1-AMPK pathway in regulating tumorigenesis in mice resulting from deficiency of the PTEN (phosphatase and tensin homologue deleted on chromosome 10) tumour suppressor, which drives cell growth through overactivation of the Akt and mTOR (mammalian target of rapamycin) kinases.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 60, "end": 64}], "disease": [{"text": "tumorigenesis", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We also provisionally suggest that dysthymia may stem from disturbances of neuroendocrine and neurotransmitter functioning (eg, corticotropin releasing hormone and arginine vasopressin within the hypothalamus, or alternatively monoamine variations within several extrahypothalamic sites), and may also involve cytokine activation.", "output": {"entities": {"gene": [{"text": "corticotropin releasing hormone", "start": 128, "end": 159}], "disease": [{"text": "dysthymia", "start": 35, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "corticotropin releasing hormone", "start": 128, "end": 159}, "tail": {"text": "dysthymia", "start": 35, "end": 44}}]}}, "schema": []}
{"input": "Mutations in the PI3K/PTEN/TSC2 pathway contribute to mammalian target of rapamycin activity and increased translation under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 27, "end": 31}], "disease": [{"text": "hypoxic", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "These results suggested that Ptx1 may be an universal transcription factor in both neoplastic and non-neoplastic conditions in human pituitaries.", "output": {"entities": {"gene": [{"text": "Ptx1", "start": 29, "end": 33}], "disease": [{"text": "non-neoplastic", "start": 98, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The possible biochemical and immunological mechanisms of the previously discovered phenomenon of significant and prolonged decrease of alcohol abuse of albino rats after the intravenous injection of the heterologous alcohol dehydrogenase (ADH) were studied.", "output": {"entities": {"gene": [{"text": "ADH", "start": 239, "end": 242}], "disease": [{"text": "albino", "start": 152, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The IL-8 mRNA and protein levels are increased in the esophageal mucosa, not only in reflux esophagitis (RE), but also in endoscopy-negative GERD (NERD), through activation of nuclear factor-kappaB (NF-kappaB), which is a pivotal transcription factor.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 199, "end": 208}], "disease": [{"text": "reflux esophagitis", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "To investigate its possibility as a molecular target for future therapies directed against hepatocellular carcinoma, we constructed a tissue-specific RNA interference (RNAi) system mediated by hypoxia-inducible (HI) enhancer/alpha-fetoprotein (AFP) promoter and employed it to downregulate exogenous reporters (LUC and EGFP) and endogenous STK15 gene expression and analyzed the phenotypical changes in HCC cells.", "output": {"entities": {"gene": [{"text": "AFP", "start": 244, "end": 247}], "disease": [{"text": "hypoxia", "start": 193, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "The role of the Th1 pathway in the pathogenesis of severe malaria is unclear.", "output": {"entities": {"gene": [{"text": "Th1", "start": 16, "end": 19}], "disease": [{"text": "severe malaria", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The relapse samples retained the translocation of ETV6-RUNX1 relative to the three-way translocation t (8; 12; 21) at diagnosis, suggesting that the three-way translocation might be an important risk factor for relapse in patients with ETV6-RUNX1-positive ALL and should be further studied.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 55, "end": 60}], "disease": [{"text": "translocation", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The objectives of the current study were 1) to identify the number of women in a breast cancer screening population who had > or = 20% lifetime breast cancer risk and, thus, were candidates for screening MRI; and 2) to determine the number of women who had > or = 10% risk of BRCA mutation yet had < 20% lifetime risk of breast cancer and, thus, may not have been identified as candidates for MRI screening.", "output": {"entities": {"gene": [{"text": "MRI", "start": 204, "end": 207}], "disease": [{"text": "breast cancer", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "GFAP has been identified to be the only gene associated with Alexander disease since 2001.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 0, "end": 4}], "disease": [{"text": "Alexander disease", "start": 61, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 0, "end": 4}, "tail": {"text": "Alexander disease", "start": 61, "end": 78}}]}}, "schema": []}
{"input": "The susceptibility alleles found in Mexicans with narcolepsy are also present in Japanese and Caucasians; DRB1 * 04 linked protection has also been shown in Koreans.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 106, "end": 110}], "disease": [{"text": "narcolepsy", "start": 50, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DRB1", "start": 106, "end": 110}, "tail": {"text": "narcolepsy", "start": 50, "end": 60}}]}}, "schema": []}
{"input": "Furthermore, drug selection with sulfasalazine and topotecan induced a complete demethylation of the ABCG2 promoter in the T-ALL and ovarian carcinoma model cell lines CCRF-CEM and IGROV1, respectively.", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 101, "end": 106}], "disease": [{"text": "T-ALL", "start": 123, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCG2", "start": 101, "end": 106}, "tail": {"text": "T-ALL", "start": 123, "end": 128}}]}}, "schema": []}
{"input": "Rats were subjected to coronary artery ligation to induce MI, and adenovirus carrying the human tissue kallikrein or luciferase gene was injected into the tail vein at 1 week after surgery.", "output": {"entities": {"gene": [{"text": "tissue kallikrein", "start": 96, "end": 113}], "disease": [{"text": "MI", "start": 58, "end": 60}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "tissue kallikrein", "start": 96, "end": 113}, "tail": {"text": "MI", "start": 58, "end": 60}}]}}, "schema": []}
{"input": "We isolated a CD8 + cytotoxic T lymphocyte (CTL) clone directly from the blood of a patient with the acute hantavirus pulmonary syndrome (HPS) which recognizes a SNV specific epitope on the virus nucleocapsid protein (aa 234-242) that is restricted by HLA C7 and produces IFN gamma but not IL-4.", "output": {"entities": {"gene": [{"text": "IFN", "start": 272, "end": 275}], "disease": [{"text": "hantavirus pulmonary syndrome", "start": 107, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The present findings are consistent with the view that PTHrP can be generated in myeloma cells in vivo, and could contribute to osteolysis and hypercalcaemia, as in patients with cancer.", "output": {"entities": {"gene": [{"text": "PTHrP", "start": 55, "end": 60}], "disease": [{"text": "myeloma", "start": 81, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTHrP", "start": 55, "end": 60}, "tail": {"text": "myeloma", "start": 81, "end": 88}}]}}, "schema": []}
{"input": "The supplementation of FGF-2 and BDNF attenuated various parameters of inflammation, including astrocytosis, microcytosis and IL-1 & #946; expression.", "output": {"entities": {"gene": [{"text": "FGF-2", "start": 23, "end": 28}], "disease": [{"text": "inflammation", "start": 71, "end": 83}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FGF-2", "start": 23, "end": 28}, "tail": {"text": "inflammation", "start": 71, "end": 83}}]}}, "schema": []}
{"input": "Fifty-seven gastric and colorectal cancers were stratified by autosomal STRs, and the mononucleotide marker BAT-26 into stable, low-level unstable and high-level unstable microsatellite (MSI-H) cancers, of which the last produced the majority of X-STR alleles.", "output": {"entities": {"gene": [{"text": "STR", "start": 72, "end": 75}], "disease": [{"text": "cancers", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "During chromosome analysis, we identified a reciprocal translocation between chromosomes 1p and 12q, t (1; 12) (p32. 1; q21. 3), co-segregating with microcephaly, language delay, and severe psychomotor retardation in a mother and her two affected boys.", "output": {"entities": {"gene": [{"text": "p32", "start": 112, "end": 115}], "disease": [{"text": "language delay", "start": 163, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In vitro, after the release of U87 cell lines from serum starvation, the expression of SYF2 was upregulated, as well as PCNA and cyclin D1.", "output": {"entities": {"gene": [{"text": "SYF2", "start": 87, "end": 91}], "disease": [{"text": "starvation", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Postzygotic Mutations in Beta-Actin Are Associated with Becker' s Nevus and Becker' s Nevus Syndrome.", "output": {"entities": {"gene": [{"text": "Beta-Actin", "start": 25, "end": 35}], "disease": [{"text": "Becker' s Nevus", "start": 56, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Beta-Actin", "start": 25, "end": 35}, "tail": {"text": "Becker' s Nevus", "start": 56, "end": 71}}]}}, "schema": []}
{"input": "Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.", "output": {"entities": {"gene": [{"text": "RASA1", "start": 115, "end": 120}], "disease": [{"text": "Parkes Weber syndrome", "start": 0, "end": 21}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RASA1", "start": 115, "end": 120}, "tail": {"text": "Parkes Weber syndrome", "start": 0, "end": 21}}]}}, "schema": []}
{"input": "GM2-gangliosidoses are neurological disorders caused by a genetic deficiency of either the beta-hexosaminidase A or the GM2 activator, a glycolipid binding protein.", "output": {"entities": {"gene": [{"text": "GM2 activator", "start": 120, "end": 133}], "disease": [{"text": "gangliosidoses", "start": 4, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "There was also a significant association of a CSF3 haplotype with baseline levels of forced expiratory volume in one second.", "output": {"entities": {"gene": [{"text": "CSF3", "start": 46, "end": 50}], "disease": [{"text": "forced expiratory volume", "start": 85, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.", "output": {"entities": {"gene": [{"text": "EPM2A", "start": 48, "end": 53}], "disease": [{"text": "Lafora disease", "start": 80, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPM2A", "start": 48, "end": 53}, "tail": {"text": "Lafora disease", "start": 80, "end": 94}}]}}, "schema": []}
{"input": "Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein.", "output": {"entities": {"gene": [{"text": "cartilage oligomeric matrix protein", "start": 124, "end": 159}], "disease": [{"text": "Pseudoachondroplasia", "start": 0, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cartilage oligomeric matrix protein", "start": 124, "end": 159}, "tail": {"text": "Pseudoachondroplasia", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "At 12, 24, and 72 h after treatments, neurological deficits were evaluated; expression of HTK and vascular endothelial growth factor (VEGF) were detected by immunohistochemistry staining; the infarction volume was measured; and rCBF was examined by (14) C-iodoantipyrine microtracing technique.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 134, "end": 138}], "disease": [{"text": "infarction", "start": 192, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that RhoGDI2 plays a critical role in tumor progression in gastric cancer through induction of EMT.", "output": {"entities": {"gene": [{"text": "EMT", "start": 118, "end": 121}], "disease": [{"text": "tumor progression", "start": 61, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Patients with multidrug-resistant tuberculosis display impaired Th1 responses and enhanced regulatory T-cell levels in response to an outbreak of multidrug-resistant Mycobacterium tuberculosis M and Ra strains.", "output": {"entities": {"gene": [{"text": "Th1", "start": 64, "end": 67}], "disease": [{"text": "multidrug-resistant tuberculosis", "start": 14, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The spectrum of patients included those with Stargardt macular dystrophy, macular dystrophies secondary to known mutations such as peripherin/RDS, uncharacterised macular dystrophies, Best disease, bifocal chorioretinal atrophy, Bietti crystalline retinal dystrophy and choroideraemia.", "output": {"entities": {"gene": [{"text": "peripherin", "start": 131, "end": 141}], "disease": [{"text": "chorioretinal atrophy", "start": 206, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The findings in the current study enrich the evidence on the OPTN gene as a causative gene for POAG and suggest a different mutation pattern of OPTN in Chinese than in whites.", "output": {"entities": {"gene": [{"text": "OPTN", "start": 61, "end": 65}], "disease": [{"text": "POAG", "start": 95, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPTN", "start": 61, "end": 65}, "tail": {"text": "POAG", "start": 95, "end": 99}}]}}, "schema": []}
{"input": "[Effects of human Cu, Zn-superoxide dismutase in aminonucleoside nephrosis--evaluation of the morphology and glomerular basement membrane anionic charge sites].", "output": {"entities": {"gene": [{"text": "Cu, Zn-superoxide dismutase", "start": 18, "end": 45}], "disease": [{"text": "nephrosis", "start": 65, "end": 74}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Cu, Zn-superoxide dismutase", "start": 18, "end": 45}, "tail": {"text": "nephrosis", "start": 65, "end": 74}}]}}, "schema": []}
{"input": "Gastric cancers of different stages and histology were analyzed on SAGE, and one of the largest gastric cancer SAGE libraries in the world was created (GEO accession number GSE 545).", "output": {"entities": {"gene": [{"text": "GSE", "start": 173, "end": 176}], "disease": [{"text": "gastric cancer", "start": 96, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "However, Nurr1 deletion did not induce overt abnormalities in other cardinal behavioral and cognitive functions known to be impaired in schizophrenia, including social interaction and recognition, spatial recognition memory or discrimination reversal learning.", "output": {"entities": {"gene": [{"text": "Nurr1", "start": 9, "end": 14}], "disease": [{"text": "abnormalities", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, cells expressing the mutated frataxin presented a FRDA-like biochemical phenotype.", "output": {"entities": {"gene": [{"text": "frataxin", "start": 44, "end": 52}], "disease": [{"text": "FRDA", "start": 65, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "frataxin", "start": 44, "end": 52}, "tail": {"text": "FRDA", "start": 65, "end": 69}}]}}, "schema": []}
{"input": "Here, using a rat neuropathic pain model induced by repeated systemic paclitaxel injections, we examined whether paclitaxel upregulates proinflammatory cytokine gene expression, and whether these changes and paclitaxel-induced mechanical allodynia can be attenuated by intrathecal IL-1 receptor antagonist (IL-1ra) or intrathecal delivery of plasmid DNA encoding the anti-inflammatory cytokine, interleukin-10 (IL-10).", "output": {"entities": {"gene": [{"text": "interleukin-10", "start": 395, "end": 409}], "disease": [{"text": "mechanical allodynia", "start": 227, "end": 247}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interleukin-10", "start": 395, "end": 409}, "tail": {"text": "mechanical allodynia", "start": 227, "end": 247}}]}}, "schema": []}
{"input": "Our results prove that somatic GJB2 mutation is sufficient to cause PEODDN.", "output": {"entities": {"gene": [{"text": "GJB2", "start": 31, "end": 35}], "disease": [{"text": "PEODDN", "start": 68, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJB2", "start": 31, "end": 35}, "tail": {"text": "PEODDN", "start": 68, "end": 74}}]}}, "schema": []}
{"input": "We also add new insights into the mechanisms linking the coagulation mediators thrombin and PAR-1 in the context of blood coagulation disorders and venous thrombosis often observed in cancer patients, as described in 1865 by Armand Trousseau.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 92, "end": 97}], "disease": [{"text": "venous thrombosis", "start": 148, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "While the exact mechanism (s) for this antitumor activity of p-XSC remains to be elucidated, it appears that modulation of beta-catenin expression and COX-2 activity is associated with inhibition of intestinal polyps.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 151, "end": 156}], "disease": [{"text": "intestinal polyps", "start": 199, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 151, "end": 156}, "tail": {"text": "intestinal polyps", "start": 199, "end": 216}}]}}, "schema": []}
{"input": "In the present study, we used in situ hybridization to measure the expression of NMDA subunits (NR1, NR2A-D), and associated intracellular proteins (NF-L, PSD95, and SAP102) in a second, younger cohort from the Stanley Foundation Neuropathology Consortium, which included patients with both schizophrenia and affective disorders.", "output": {"entities": {"gene": [{"text": "SAP102", "start": 166, "end": 172}], "disease": [{"text": "affective disorders", "start": 309, "end": 328}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SAP102", "start": 166, "end": 172}, "tail": {"text": "affective disorders", "start": 309, "end": 328}}]}}, "schema": []}
{"input": "We found that this plasmid, pβ-SP-ODD-VEGF, expresses the SP-ODD-VEGF protein at increased levels under hypoxic conditions compared to normoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 38, "end": 42}], "disease": [{"text": "hypoxic", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Blood pressure was increased 50 mmHg for 20 min by arterial constriction +/-ANG II clamp or by sham operation.", "output": {"entities": {"gene": [{"text": "ANG", "start": 76, "end": 79}], "disease": [{"text": "constriction", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In this study, we used the cuprizone model of demyelination, characterized by oligodendrogliopathy and microglial infiltration, to define the effect of p53 inhibition.", "output": {"entities": {"gene": [{"text": "p53", "start": 152, "end": 155}], "disease": [{"text": "demyelination", "start": 46, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p53", "start": 152, "end": 155}, "tail": {"text": "demyelination", "start": 46, "end": 59}}]}}, "schema": []}
{"input": "On a cellular level, loss of CRTAP in human OI fibroblasts led to a secondary loss of P3H1, and vice versa.", "output": {"entities": {"gene": [{"text": "CRTAP", "start": 29, "end": 34}], "disease": [{"text": "secondary", "start": 68, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We show that NSD3-short is an adaptor protein that sustains leukemia by linking BRD4 to the CHD8 chromatin remodeler, by using a PWWP chromatin reader module, and by employing an acidic transactivation domain.", "output": {"entities": {"gene": [{"text": "CHD8", "start": 92, "end": 96}], "disease": [{"text": "leukemia", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Plasma adrenomedullin (ADM) concentrations increase in patients with hypertension, renal failure, heart failure, essential pulmonary hypertension, myocardial infarction, endotoxin shock, and many other conditions.", "output": {"entities": {"gene": [{"text": "ADM", "start": 23, "end": 26}], "disease": [{"text": "shock", "start": 180, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "So far, miRNA expression changes associated with invasive breast cancer, like miR-21, have not been studied in FEA.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 78, "end": 84}], "disease": [{"text": "invasive breast cancer", "start": 49, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The majority of the up-regulated genes characterized were found to have an established or possible role in the innate defense against infections; these genes included the LPLUNC1, LF, VCC1, TCN1, CD55, SERPINA3, MMP1, MMP3, IL1B, LCN2, SOCS3, GDF15, SLPI, CXCL13, and MUC1 genes.", "output": {"entities": {"gene": [{"text": "LPLUNC1", "start": 171, "end": 178}], "disease": [{"text": "infections", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The genome types of B19 from the fetuses and leukemia patients were similar to the types from patients with aplastic crisis and an asymptomatic individual.", "output": {"entities": {"gene": [{"text": "B19", "start": 20, "end": 23}], "disease": [{"text": "leukemia", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Using flow cytometry and Annexin V and propidium iodide as markers for apoptosis and necrosis, respectively, SP-D-deficient mice were found to have a 5-to 10-fold increase in the number of apoptotic and necrotic alveolar macrophages in the lungs.", "output": {"entities": {"gene": [{"text": "Annexin V", "start": 25, "end": 34}], "disease": [{"text": "necrotic", "start": 203, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Results presented herein provide further evidence for a role of MAGI1 and MAGI2 in BPAD and SZ etiology.", "output": {"entities": {"gene": [{"text": "MAGI2", "start": 74, "end": 79}], "disease": [{"text": "BPAD", "start": 83, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAGI2", "start": 74, "end": 79}, "tail": {"text": "BPAD", "start": 83, "end": 87}}]}}, "schema": []}
{"input": "In tumor cells, EMT is a vital step of tumor progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 16, "end": 19}], "disease": [{"text": "tumor progression", "start": 39, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In models of painful peripheral neuropathy associated with vincristine chemotherapy, alcoholism, diabetes, and human immunodeficiency virus/acquired immune deficiency syndrome therapy, mechanical hyperalgesia was markedly reduced by spinal intrathecal administration of oligodeoxynucleotides antisense to TRPV4.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 305, "end": 310}], "disease": [{"text": "immune deficiency", "start": 149, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "This finding emphasizes the significance of SCN1A mutations also in epileptic disorders with features of LGS, particularly in the myoclonic variant of the disorder.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 44, "end": 49}], "disease": [{"text": "LGS", "start": 105, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN1A", "start": 44, "end": 49}, "tail": {"text": "LGS", "start": 105, "end": 108}}]}}, "schema": []}
{"input": "Rare nonsynonymous variants in alpha-4 nicotinic acetylcholine receptor gene protect against nicotine dependence.", "output": {"entities": {"gene": [{"text": "alpha-4", "start": 31, "end": 38}], "disease": [{"text": "nicotine dependence", "start": 93, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In colosphere xenografts, SHH inhibitor significantly suppressed tumorigenesis by inhibiting tumorsphere formation.", "output": {"entities": {"gene": [{"text": "SHH", "start": 26, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "PlGF-1, that is a pure agonist of VEGFR-1, is produced in ARPE-19 cells under hypoxic conditions and mimics VEGF effects on the external retinal barrier as measured by TER and inulin flux.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 34, "end": 38}], "disease": [{"text": "hypoxic", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 98, "end": 103}], "disease": [{"text": "Cole disease", "start": 15, "end": 27}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ENPP1", "start": 98, "end": 103}, "tail": {"text": "Cole disease", "start": 15, "end": 27}}]}}, "schema": []}
{"input": "Furthermore, this approach enables quantification of haploinsufficiency due to nonsense-mediated mRNA decay in normal tissue and B-lymphocytes from patients carrying MSH2 germline mutations and may be useful for identification of asymptomatic carriers of pathogenic germline mutations.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 166, "end": 170}], "disease": [{"text": "asymptomatic", "start": 230, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Here we report delayed ossification and decreased bone mineral density in caspase-3-deficient (Casp3 (-/-) and Casp3 (+/-)) mice due to an attenuated osteogenic differentiation of bone marrow stromal stem cells (BMSSCs).", "output": {"entities": {"gene": [{"text": "Casp3", "start": 95, "end": 100}], "disease": [{"text": "bone mineral density", "start": 50, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "One variant (1128 T > C), which causes an amino acid change from leucine to proline at codon 7 in the signal peptide of NPY, was associated with increased body mass index (BMI) in two separate Swedish populations of normal and overweight individuals.", "output": {"entities": {"gene": [{"text": "NPY", "start": 120, "end": 123}], "disease": [{"text": "body mass index", "start": 155, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "There was a decrease of ANXA1 expression in myoepithelial cells in ductal carcinoma in situ lesions compared with the same cell population in either normal or hyperplastic lesions.", "output": {"entities": {"gene": [{"text": "ANXA1", "start": 24, "end": 29}], "disease": [{"text": "ductal carcinoma in situ", "start": 67, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Also, levels of the proliferation marker proliferating cell nuclear antigen (PCNA) and OX-42 were not increased in the infarct core in rats treated with SA4503.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 77, "end": 81}], "disease": [{"text": "infarct", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Three cases with deletion of the whole sodium channel gene cluster (SCN3A, SCN2A, SCN1A, SCN9A, and SCN7A) exhibited a complex epilepsy phenotype that was atypical for Dravet syndrome and suggestive of migrating partial seizures of infancy: early seizure onset (before 2 months of age), severe developmental delay from seizure onset, multifocal interictal spikes, polymorphous focal seizures, and acquired microcephaly.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 75, "end": 80}], "disease": [{"text": "developmental delay", "start": 294, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "We found 14 novel SCN2A missense mutations in 15 patients: 9 of 67 OS cases (13. 4%), 1 of 150 West syndrome cases (0. 67%), and 5 of 111 with unclassified EOEEs (4. 5%).", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 18, "end": 23}], "disease": [{"text": "West syndrome", "start": 95, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN2A", "start": 18, "end": 23}, "tail": {"text": "West syndrome", "start": 95, "end": 108}}]}}, "schema": []}
{"input": "The mutation R122H of the cationic trypsinogen was found in 21 index patients, N291 in six index patients, and A16V and D22G in one index patient, all from HP families.", "output": {"entities": {"gene": [{"text": "cationic trypsinogen", "start": 26, "end": 46}], "disease": [{"text": "HP", "start": 156, "end": 158}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cationic trypsinogen", "start": 26, "end": 46}, "tail": {"text": "HP", "start": 156, "end": 158}}]}}, "schema": []}
{"input": "Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies.", "output": {"entities": {"gene": [{"text": "KAT8", "start": 22, "end": 26}], "disease": [{"text": "seizures", "start": 80, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KAT8", "start": 22, "end": 26}, "tail": {"text": "seizures", "start": 80, "end": 88}}]}}, "schema": []}
{"input": "These stimuli also provoked microphthalmia transcription factor (MITF) translocation to the nucleus, and knockdown of MITF by short hairpin RNA indicated its absolute requirement for Gpnmb induction.", "output": {"entities": {"gene": [{"text": "MITF", "start": 65, "end": 69}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Our observations thus far indicate that both angiogenic and non-angiogenic tumours experience hypoxia/HIF and vascular endothelial growth factor (VEGF) pathway protein expression in a comparable fashion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 146, "end": 150}], "disease": [{"text": "hypoxia", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "KLK5-SV2 is expressed in a variety of tissues, with higher expression levels in the mammary gland, cervix, salivary gland and trachea.", "output": {"entities": {"gene": [{"text": "SV2", "start": 5, "end": 8}], "disease": [{"text": "trachea", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "And in vitro, in 3T3-L1 adipocytes, insulin-induced (1. 0 mmol/liter) insulin resistance significantly decreased VLDLR mRNA expression.", "output": {"entities": {"gene": [{"text": "VLDLR", "start": 113, "end": 118}], "disease": [{"text": "insulin resistance", "start": 70, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "To determine whether primary plasma cell leukemia (PPCL) remains a high-risk multiple myeloma feature in the context of contemporary therapy and gene-expression profiling (GEP), we reviewed records of 1474 patients with myeloma, who were enrolled in Total Therapy protocols or treated identically off protocol.", "output": {"entities": {"gene": [{"text": "GEP", "start": 172, "end": 175}], "disease": [{"text": "plasma cell leukemia", "start": 29, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Epicardial vessel paucity was associated with increased numbers of HIF-1alpha (+) cells (46. 8 +/-13. 1% vs. 19. 4 +/-9. 4%, p = 0. 006) indicating local epicardial hypoxia and elevation of circulating VEGF-A (394 pg/mL vs. 22 pg/mL, p = 0. 001).", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 202, "end": 208}], "disease": [{"text": "hypoxia", "start": 165, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Expression of NAT1, TBC1D9, IL6ST, RABEP1, PLK1 and LRBA was elevated in carcinomas of males compared to those of females, in which ER status appeared to be related to expression.", "output": {"entities": {"gene": [{"text": "LRBA", "start": 52, "end": 56}], "disease": [{"text": "carcinomas", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Our study confirms the significant association between SNP rs1063192 (CDKN2B, previously shown to influence vertical cup-to-disc ratio and POAG at 9p21) and POAG in the Afro-Caribbean population of Barbados.", "output": {"entities": {"gene": [{"text": "CDKN2B", "start": 70, "end": 76}], "disease": [{"text": "cup", "start": 117, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Here we show that Arsg KO mice share common neuropathological findings with other Sanfilippo syndrome models and patients, but they can be clearly distinguished by the limitation of most phenotypic alterations to the cerebellum, presenting with ataxia as the major neurological finding.", "output": {"entities": {"gene": [{"text": "Arsg", "start": 18, "end": 22}], "disease": [{"text": "neurological finding", "start": 265, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Ten glyco-genes (GALNT3, GALNT6, GALNT7, GALNT14, MGAT3, MAN1A1, MAN1C1, ST3GAL2, ST6GAL1, ST8SIA3) showing changes in both methylation and expression in the same type of cancer belong to GalNAc transferases, GlcNAc transferases, mannosidases and sialyltransferases, which is in line with changes in glycan structures already reported in the same type of tumors.", "output": {"entities": {"gene": [{"text": "ST3GAL2", "start": 73, "end": 80}], "disease": [{"text": "cancer", "start": 171, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "We hypothesised that severe pre-and post-natal growth restriction associated with insulin resistance and precocious pubarche in the absence of SRS are also caused by downregulation of IGF2 through hypomethylation, gene mutation or structural chromosomal abnormalities.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 184, "end": 188}], "disease": [{"text": "insulin resistance", "start": 82, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Wild-type and Asbt-deficient (Slc10a2 (-/-)) male mice were treated with azoxymethane (AOM) alone to examine the development of aberrant crypt foci, the earliest histological marker of colon neoplasia and a combination of AOM and dextran sulfate sodium to induce colon tumor formation.", "output": {"entities": {"gene": [{"text": "Slc10a2", "start": 30, "end": 37}], "disease": [{"text": "neoplasia", "start": 191, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "MicroRNAs Hsa-miR-185 * and Hsa-miR-491-3p were upregulated in suicide completers with low expression of TrkB. T1 (P (nominal): 9. 10 (-5) and 1. 8. 10 (-4) respectively; FDR-corrected p = 0. 031).", "output": {"entities": {"gene": [{"text": "Hsa-miR-491", "start": 28, "end": 39}], "disease": [{"text": "suicide", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15).", "output": {"entities": {"gene": [{"text": "PAX8", "start": 113, "end": 117}], "disease": [{"text": "hypoplastic thyroid", "start": 55, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX8", "start": 113, "end": 117}, "tail": {"text": "hypoplastic thyroid", "start": 55, "end": 74}}]}}, "schema": []}
{"input": "Here we report that related transcriptional enhancer factor-1 (RTEF-1), a member of the TEF transcriptional factor family, transcriptionally regulates the HIF-1α gene under normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "RTEF-1", "start": 63, "end": 69}], "disease": [{"text": "hypoxic", "start": 186, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: These results suggest that methylation-mediated silencing of MZB1 expression leads to loss of its tumor-suppressive activity, which may be a factor in the hepatocarcinogenesis, and is a useful prognosticator in HCC.", "output": {"entities": {"gene": [{"text": "MZB1", "start": 74, "end": 78}], "disease": [{"text": "hepatocarcinogenesis", "start": 168, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "The presence of TDP-43-ir changes in AD and DS may therefore be a secondary phenomenon, relating more to ageing than to AD itself.", "output": {"entities": {"gene": [{"text": "TDP-43", "start": 16, "end": 22}], "disease": [{"text": "ageing", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The epithelial to mesenchymal transition (EMT) is a crucial process in tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 42, "end": 45}], "disease": [{"text": "tumor progression", "start": 71, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The enhancement of TRAIL-induced apoptosis was associated with an upregulation of cyclin-dependent kinase inhibitor p21waf1/cip1 in pioglitazone-treated carcinoid cells.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 19, "end": 24}], "disease": [{"text": "carcinoid", "start": 153, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The risk of venous thrombosis is not increased, indicating that mannose-binding lectin has a specific role in providing protection against arterial thrombosis.", "output": {"entities": {"gene": [{"text": "mannose-binding lectin", "start": 64, "end": 86}], "disease": [{"text": "venous thrombosis", "start": 12, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "MRC-cIII-generated ROS promote oxidative DNA damage to trigger genomic instability, resulting in an accumulation of chromosomal aberrations and tyrosine kinase inhibitor-resistant BCR-ABL1 mutants.", "output": {"entities": {"gene": [{"text": "MRC", "start": 0, "end": 3}], "disease": [{"text": "genomic instability", "start": 63, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In the present work, we examined different polygenic influences on the risk of PSD in a series of stroke patients.", "output": {"entities": {"gene": [{"text": "PSD", "start": 79, "end": 82}], "disease": [{"text": "stroke", "start": 98, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Fibre typing and capillary formation, together with messenger RNA (mRNA) expression of hypoxia-inducible factors (HIF1alpha and HIF3alpha), vascular endothelial growth factors (VEGF-A, VEGF-B and VEGF-C isoforms) and von Hippel-Lindau (VHL) protein, were determined.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 177, "end": 183}], "disease": [{"text": "hypoxia", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Here, we report on a SAM domain mutation (p. Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate.", "output": {"entities": {"gene": [{"text": "TP63", "start": 59, "end": 63}], "disease": [{"text": "cleft lip and palate", "start": 145, "end": 165}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP63", "start": 59, "end": 63}, "tail": {"text": "cleft lip and palate", "start": 145, "end": 165}}]}}, "schema": []}
{"input": "A subset of normal lung function genes, including HHIP, family with sequence similarity 13, member A (FAM13A), and patched homolog 1 (PTCH1), together predict lung function abnormalities, a measure of severity in white and African American subjects with asthma.", "output": {"entities": {"gene": [{"text": "HHIP", "start": 50, "end": 54}], "disease": [{"text": "abnormalities", "start": 173, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Our findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway.", "output": {"entities": {"gene": [{"text": "PIK3R1", "start": 23, "end": 29}], "disease": [{"text": "SHORT syndrome", "start": 63, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIK3R1", "start": 23, "end": 29}, "tail": {"text": "SHORT syndrome", "start": 63, "end": 77}}]}}, "schema": []}
{"input": "In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.", "output": {"entities": {"gene": [{"text": "IDH2", "start": 118, "end": 122}], "disease": [{"text": "Ollier disease", "start": 39, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH2", "start": 118, "end": 122}, "tail": {"text": "Ollier disease", "start": 39, "end": 53}}]}}, "schema": []}
{"input": "The mother had low muscle power and marked menstrual irregularities which may indicate that she is a manifesting carrier and that the deletion may include a gene (F18 or other) for gonadal function in females.", "output": {"entities": {"gene": [{"text": "F18", "start": 163, "end": 166}], "disease": [{"text": "menstrual irregularities", "start": 43, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In both CRC cell lines and tumor cells from CRC patients, the ADCC activities were significantly associated with the cell surface expression levels of EGFR [standard partial regression coefficients: 0. 911 (P = 0. 017) and 0. 660 (P = 0. 018), respectively], but not with the mutational status of KRAS and BRAF [standard partial regression coefficient:-0. 101 (P = 0. 631) and 0. 160 (P = 0. 510), respectively].", "output": {"entities": {"gene": [{"text": "EGFR", "start": 151, "end": 155}], "disease": [{"text": "regression", "start": 174, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "The chromosomal translocation (8; 21) (q22; q22) in the AML M2 subtype according to the FAB classification, results in the production of a novel fusion gene AML1/ETO.", "output": {"entities": {"gene": [{"text": "AML1", "start": 157, "end": 161}], "disease": [{"text": "chromosomal translocation", "start": 4, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level > or = 7 microg/l, is 0. 23% and the probability for a non-Friedreich ataxia non-ataxia-telangiectasia ataxic patient to be affected with AOA2 with AFP levels > or = 7 microg/l is 46%.", "output": {"entities": {"gene": [{"text": "AFP", "start": 157, "end": 160}], "disease": [{"text": "telangiectasia", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Peptidoglycan (PGN) was systemically administrated to PIA rats, and arthritis severity was evaluated macroscopically and microscopically.", "output": {"entities": {"gene": [{"text": "PGN", "start": 15, "end": 18}], "disease": [{"text": "arthritis", "start": 68, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show that a member of the heat-shock 70 family of proteins, HSPA6, is a target gene of FOXC1.", "output": {"entities": {"gene": [{"text": "FOXC1", "start": 105, "end": 110}], "disease": [{"text": "shock", "start": 49, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The most significant SNPs resided in ROR1 and PLCB1, genes known to be involved in bipolar disorder and schizophrenia, respectively.", "output": {"entities": {"gene": [{"text": "ROR1", "start": 37, "end": 41}], "disease": [{"text": "bipolar disorder", "start": 83, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ROR1", "start": 37, "end": 41}, "tail": {"text": "bipolar disorder", "start": 83, "end": 99}}]}}, "schema": []}
{"input": "Of the five classes of subjects with unexplained fatigue, three classes were distinguished by gene polymorphsims involved in either HPA axis function or neurotransmitter systems, including proopiomelanocortin (POMC), nuclear receptor subfamily 3, group C, member 1 (NR3C1), monoamine oxidase A (MAOA), monoamine oxidase B (MAOB), and tryptophan hydroxylase 2 (TPH2).", "output": {"entities": {"gene": [{"text": "HPA", "start": 132, "end": 135}], "disease": [{"text": "fatigue", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "However, the biological function of SASH1 in melanoma cells is yet to be determined.", "output": {"entities": {"gene": [{"text": "SASH1", "start": 36, "end": 41}], "disease": [{"text": "melanoma", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Here we identify TRF1 as a major conserved substrate for Pin1 during telomere maintenance and ageing.", "output": {"entities": {"gene": [{"text": "TRF1", "start": 17, "end": 21}], "disease": [{"text": "ageing", "start": 94, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "NPL regression and ordered subset analyses also identified loci on 13q13. 1 and 13q33. 3 as contributing to early-onset ESRD and ESRD in the presence of increased BMI, respectively.", "output": {"entities": {"gene": [{"text": "NPL", "start": 0, "end": 3}], "disease": [{"text": "regression", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "[Prognostic implications of GP3a glucoprotein gene PLA1/PLA2 allele in prostatic cancer: pilot results of the study].", "output": {"entities": {"gene": [{"text": "GP3a", "start": 28, "end": 32}], "disease": [{"text": "prostatic cancer", "start": 71, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GP3a", "start": 28, "end": 32}, "tail": {"text": "prostatic cancer", "start": 71, "end": 87}}]}}, "schema": []}
{"input": "In every individual with FDH, the mutation was associated with the Sac I + polymorphism in the albumin gene, strongly suggesting a founder effect.", "output": {"entities": {"gene": [{"text": "albumin", "start": 95, "end": 102}], "disease": [{"text": "FDH", "start": 25, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "albumin", "start": 95, "end": 102}, "tail": {"text": "FDH", "start": 25, "end": 28}}]}}, "schema": []}
{"input": "A case of hypotension probably due to an albumin infusion is described.", "output": {"entities": {"gene": [{"text": "albumin", "start": 41, "end": 48}], "disease": [{"text": "hypotension", "start": 10, "end": 21}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "albumin", "start": 41, "end": 48}, "tail": {"text": "hypotension", "start": 10, "end": 21}}]}}, "schema": []}
{"input": "This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.", "output": {"entities": {"gene": [{"text": "AFAP", "start": 169, "end": 173}], "disease": [{"text": "hereditary pancreatic cancer", "start": 324, "end": 352}]}, "relations": {}}, "schema": []}
{"input": "To compare the wild-type (Pro/Pro) carriers in diabetics from each ethnic group, Ugyur subjects, who carry PPAR-g Pro12Ala (Pro/Ala), had a larger waist circumference and lower low-density lipoprotein-cholesterol level, Kazaks subjects showed larger waist circumference and higher high-density lipoprotein levels and Han subjects exhibited a high waist-to-hip ratio and body mass index.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 107, "end": 111}], "disease": [{"text": "waist-to-hip ratio", "start": 347, "end": 365}]}, "relations": {}}, "schema": []}
{"input": "Therefore, UCP-2 modulates the ROS/Stat3 signaling pathway and response to chemotherapy treatment in lung cancer cells.", "output": {"entities": {"gene": [{"text": "UCP", "start": 11, "end": 14}], "disease": [{"text": "lung cancer", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Expression of alternative costimulatory receptors (inducible costimulator, OX40, 4-1BB, cytotoxic T lymphocyte associated antigen-4, programmed death-1) was quantified in CD4 (+) CD28 (null) T cells from circulation of ACS and stable angina patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 171, "end": 174}], "disease": [{"text": "stable angina", "start": 227, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "A growing body of evidence indicates that elevated expression of CD26 correlates with disease aggressiveness and invasive potential of selected malignancies.", "output": {"entities": {"gene": [{"text": "CD26", "start": 65, "end": 69}], "disease": [{"text": "aggressiveness", "start": 94, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Glucagon antagonized verapamil-induced hypotension and bradycardia in rats; however, glucagon' s ability to antagonize other CCBs is unexplored.", "output": {"entities": {"gene": [{"text": "Glucagon", "start": 0, "end": 8}], "disease": [{"text": "hypotension", "start": 39, "end": 50}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Glucagon", "start": 0, "end": 8}, "tail": {"text": "hypotension", "start": 39, "end": 50}}]}}, "schema": []}
{"input": "FMRP is a polyribosome-associated RNA-binding protein that regulates the synthesis of a set of plasticity-reated proteins by stalling ribosomal translocation on target mRNAs.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 34, "end": 53}], "disease": [{"text": "translocation", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In vivo, it had an antitumor effect when injected into tumors in murine models of subcutaneous lymphoma (SCL) and primary cerebral lymphoma (PCL).", "output": {"entities": {"gene": [{"text": "SCL", "start": 105, "end": 108}], "disease": [{"text": "lymphoma", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.", "output": {"entities": {"gene": [{"text": "KCNJ2", "start": 72, "end": 77}], "disease": [{"text": "SQT3", "start": 35, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ2", "start": 72, "end": 77}, "tail": {"text": "SQT3", "start": 35, "end": 39}}]}}, "schema": []}
{"input": "The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications.", "output": {"entities": {"gene": [{"text": "BANF1", "start": 163, "end": 168}], "disease": [{"text": "insulin resistance", "start": 225, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "We sought to examine the association of TET1 methylation with asthma and traffic-related air pollution (TRAP).", "output": {"entities": {"gene": [{"text": "TRAP", "start": 104, "end": 108}], "disease": [{"text": "asthma", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "chromosomal instability, driven primarily by APC mutation induced deregulated Wnt signaling, and microsatellite instability (MSI) caused by mismatch repair (MMR) inactivation, together account for > 90% of late-onset colorectal cancer (CRC).", "output": {"entities": {"gene": [{"text": "MMR", "start": 157, "end": 160}], "disease": [{"text": "microsatellite instability", "start": 97, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "However, the relationship between TRP expression and the clinicopathological characteristics of lung cancer and patient prognosis is not well understood.", "output": {"entities": {"gene": [{"text": "TRP", "start": 34, "end": 37}], "disease": [{"text": "lung cancer", "start": 96, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: We conclude that down-regulation of the KLK11 gene in advanced and more aggressive tumors may open the possibility of being used as a future biological marker distinguishing the tumor aggressiveness as well as a useful prognostic biomarker for prostate cancer.", "output": {"entities": {"gene": [{"text": "KLK11 gene", "start": 53, "end": 63}], "disease": [{"text": "aggressiveness", "start": 197, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "All 9 patients had reticulocytopenia at the time B19 DNA was detected in their serum samples.", "output": {"entities": {"gene": [{"text": "B19", "start": 49, "end": 52}], "disease": [{"text": "reticulocytopenia", "start": 19, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Fused in sarcoma (FUS) is a nuclear DNA/RNA binding protein that regulates different steps of gene expression, including transcription, splicing and mRNA transport.", "output": {"entities": {"gene": [{"text": "RNA binding protein", "start": 40, "end": 59}], "disease": [{"text": "sarcoma", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Neither allele and genotype distributions nor NPL scores or the restriction of analysis to individuals older than 50 years provided evidence for association or linkage of the VIPR1 SNP and cholelithiasis.", "output": {"entities": {"gene": [{"text": "NPL", "start": 46, "end": 49}], "disease": [{"text": "cholelithiasis", "start": 189, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate that deregulated Ras/ERK signaling is critical for the growth of NF1 peripheral nerve tumors and provide a strong rationale for testing MEK inhibitors in NF1 clinical trials.", "output": {"entities": {"gene": [{"text": "ERK", "start": 42, "end": 45}], "disease": [{"text": "peripheral nerve tumors", "start": 90, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "RNA expression levels of CDH1, SMAD3, TGFβ1, ICAM-1, TIMP-1 and MUC12 were measured by qRT-PCR in a set of 39 tumor samples and non-cancer tissue.", "output": {"entities": {"gene": [{"text": "MUC12", "start": 64, "end": 69}], "disease": [{"text": "cancer", "start": 132, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "To investigate the molecular mechanisms underlying EMT and the emergence of cancer stem cell-like properties during neoplastic transformation of human bronchial epithelial (HBE) cells induced by chronic exposure to arsenite.", "output": {"entities": {"gene": [{"text": "HBE", "start": 173, "end": 176}], "disease": [{"text": "neoplastic transformation", "start": 116, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "In addition, resveratrol remarkably inhibited hypoxia-mediated activation of extracellular signal-regulated kinase 1/2 and Akt, leading to a marked decrease in hypoxia-induced HIF-1alpha protein accumulation and VEGF transcriptional activation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 212, "end": 216}], "disease": [{"text": "hypoxia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.", "output": {"entities": {"gene": [{"text": "ITGA2B", "start": 85, "end": 91}], "disease": [{"text": "Glanzmann thrombasthenia", "start": 48, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGA2B", "start": 85, "end": 91}, "tail": {"text": "Glanzmann thrombasthenia", "start": 48, "end": 72}}]}}, "schema": []}
{"input": "We investigated the possible participation of mitogen-activated protein kinases in serum starvation induction of VEGF in the HT29 human colon carcinoma cell line.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 113, "end": 117}], "disease": [{"text": "starvation", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The mutant Cdc20 protein (AAA-Cdc20) is no longer inhibited by Mad2 in response to SAC activation, leading to the dysfunction of SAC and aneuploidy.", "output": {"entities": {"gene": [{"text": "SAC", "start": 83, "end": 86}], "disease": [{"text": "aneuploidy", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Apoptosis regulator B-cell lymphoma 10 (BCL10) may show aberrant nuclear localization in some aggressive extracutaneous MALT lymphomas, often in association with a MALT1 gene t (11; 18) (q21; q21) translocation.", "output": {"entities": {"gene": [{"text": "MALT1 gene", "start": 164, "end": 174}], "disease": [{"text": "translocation", "start": 197, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "We report a pediatric case of B lymphoblastic leukemia (BLL) with t (12; 21) (p13; q22); TEL-AML1 (ETV6-RUNX1) showing erythrophagocytosis and thrombophagocytosis by leukemic blasts.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 99, "end": 103}], "disease": [{"text": "erythrophagocytosis", "start": 119, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Both H. felis infection and K-ras mutation induced upregulation of proinflammatory cytokines, expansion of Dcamkl1 (+) cells, and progression to oxyntic atrophy, metaplasia, hyperplasia, and high-grade dysplasia.", "output": {"entities": {"gene": [{"text": "Dcamkl1", "start": 107, "end": 114}], "disease": [{"text": "atrophy", "start": 153, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Molecular investigations of GJB3 and GJB4 were performed in five pedigrees and three sporadic cases of EKV.", "output": {"entities": {"gene": [{"text": "GJB4", "start": 37, "end": 41}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The CD rat models were established by trinitrobenzene sulfonic acid (TNBs), randomly divided into a model control (MC) group, an herb-partition moxibustion (HPM) group, a mild-warm moxibustion (MWM) group, and a salicylazosulfapyridine (SASP) group, and all were compared with a normal control (NC) group.", "output": {"entities": {"gene": [{"text": "SASP", "start": 237, "end": 241}], "disease": [{"text": "mild", "start": 171, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In addition, CLT inhibited the cold and menthol receptor TRPM8, and blocked menthol-induced responses in capsaicin-and mustard oil-insensitive trigeminal neurons.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 57, "end": 62}], "disease": [{"text": "cold", "start": 31, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes.", "output": {"entities": {"gene": [{"text": "desmin", "start": 82, "end": 88}], "disease": [{"text": "desmin-related myopathy", "start": 82, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "desmin", "start": 82, "end": 88}, "tail": {"text": "desmin-related myopathy", "start": 82, "end": 105}}]}}, "schema": []}
{"input": "These results reveal a tumor suppressor role of p27 in chronic hepatocyte injury-induced liver tumorigenesis and, at the same time, the need to further study the mechanisms for tumor promotion by p27 inactivation.", "output": {"entities": {"gene": [{"text": "p27", "start": 48, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Conversely, 5-HTTVNTR influences the risk of developing BPSD or aggressiveness and genetic variations in the 5-HTT gene may be involved in the development of symptomatology for mild AD.", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 12, "end": 17}], "disease": [{"text": "aggressiveness", "start": 64, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "A broad spectrum of KUTM was discovered in association with AMT: adult dominant polycystic kidney disease, unilateral renal agenesis, cystic renal dysplasia, familial renal cysts, and congenital stenosis of the pyeloureteral joint.", "output": {"entities": {"gene": [{"text": "AMT", "start": 60, "end": 63}], "disease": [{"text": "cystic renal dysplasia", "start": 134, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The novel KCNQ1 mutation R259C is the molecular basis for I (Ks) dysfunction underlying an apparently sporadic case of hypokalemia-induced LQTS, consistent with a mild mutation likely to disclose the clinical manifestation of LQTS in a context of severe hypokalemia.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 10, "end": 15}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Muscle wasting in a rat model of long-lasting sepsis results from the activation of lysosomal, Ca2 +-activated, and ubiquitin-proteasome proteolytic pathways.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 95, "end": 98}], "disease": [{"text": "sepsis", "start": 46, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Literature search was conducted on PubMed using combinations of the following terms: ABC transporters, ATP binding cassette transporter proteins, inflammatory bowel disease, ulcerative, colitis, Crohn' s disease, colorectal cancer, colitis, intestinal inflammation, intestinal carcinogenesis, ABCB1/P-glycoprotein (P-gp/CD243/MDR1), ABCC2/multidrug resistance protein 2 (MRP2) and ABCG2/breast cancer resistance protein (BCRP), Abcb1/Mdr1a, abcc2/Mrp2, abcg2/Bcrp, knock-out mice, tight junction, membrane lipid function.", "output": {"entities": {"gene": [{"text": "Mrp2", "start": 447, "end": 451}], "disease": [{"text": "ulcerative", "start": 174, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "We conclude that subtle variants that are central in functionally important domains of POLR2A cause a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay through a dominant-negative effect on pol-II-mediated transcription of DNA.", "output": {"entities": {"gene": [{"text": "POLR2A", "start": 87, "end": 93}], "disease": [{"text": "hypotonia", "start": 172, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POLR2A", "start": 87, "end": 93}, "tail": {"text": "hypotonia", "start": 172, "end": 181}}]}}, "schema": []}
{"input": "Using transient transfection of VEGF promoter-reporter constructs, serum starvation led to an increase in VEGF promoter activity.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 32, "end": 36}], "disease": [{"text": "starvation", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have investigated all the genes involved in the melatonin pathway by mutation screening of AA-NAT (arylalkylamine N-acetyltransferase), ASMT, MTNR1A, MTNR1B (melatonin receptor 1A and 1B) and GPR50 (G protein-coupled receptor 50), encoding both synthesis enzymes and the three main receptors of melatonin, in 109 patients with autism spectrum disorders (ASD).", "output": {"entities": {"gene": [{"text": "NAT", "start": 119, "end": 122}], "disease": [{"text": "autism spectrum disorders", "start": 352, "end": 377}]}, "relations": {}}, "schema": []}
{"input": "Under the hypoxic culture condition, RT-PCR analysis showed that 10% CWQ serum had down-regulated the expression of VEGF by 45. 87%, and the result of Western blot analysis provided further evidence.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 116, "end": 120}], "disease": [{"text": "hypoxic", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "We have studied immunological features of 200 cases of acute leukemia (109 acute myelogenous leukemia, AML, and 91 acute lymphoblastic leukemia, ALL, according to FAB criteria), including 17 (8. 5%) classified as biphenotypic by a scoring system based on the number and specificity of unexpected lineage antigens and which gives more weight to cytoplasmic markers such as myeloperoxidase, CD3, and CD22, and less to other membrane markers.", "output": {"entities": {"gene": [{"text": "CD22", "start": 398, "end": 402}], "disease": [{"text": "weight", "start": 334, "end": 340}]}, "relations": {}}, "schema": []}
{"input": "Specific CXCL9 variants were associated with liver fibrosis in mice and humans; CXCL9 serum concentrations correlated with genotypes and levels of fibrosis in patients.", "output": {"entities": {"gene": [{"text": "CXCL9", "start": 9, "end": 14}], "disease": [{"text": "fibrosis", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "This study examined the expression of the bcl-2 t (14; 18) translocation, the bcl-10 gene, and high expression of bcl-6 mRNA in PIOL cells.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 42, "end": 47}], "disease": [{"text": "translocation", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The phenotypic profile of patients with DVC differs from that of AD patients in the following: (a) anthropometric values, (b) cardiovascular function, (c) blood pressure, (d) lipid metabolism, (e) uric acid levels, (f) peripheral calcium levels, (g) liver function (GOT, GPT, GGT), (h) alkaline phosphatase, (i) lactate dehydrogenase, (j) red and white blood cells, (k) regional brain atrophy (left temporal region, inter-hippocampal distance) and (l) brain blood flow velocity.", "output": {"entities": {"gene": [{"text": "GPT", "start": 271, "end": 274}], "disease": [{"text": "blood pressure", "start": 155, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Intravenous injection of artemetin (0. 75 mg/kg) significantly reduced the hypertensive response to angiotensin I while increased the average length of bradykinin-induced hypotension. Artemetin (1. 5 mg/kg, p. o.) was also able to reduce plasma (about 37%) and vascular (up to 63%) ACE activity in vitro, compared to control group.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 152, "end": 162}], "disease": [{"text": "hypotension", "start": 171, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 152, "end": 162}, "tail": {"text": "hypotension", "start": 171, "end": 182}}]}}, "schema": []}
{"input": "HIP expression was particularly abundant in the anaplastic carcinoma-derived cell lines.", "output": {"entities": {"gene": [{"text": "HIP", "start": 0, "end": 3}], "disease": [{"text": "anaplastic carcinoma", "start": 48, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Tissue specimens derived from patients with obstructive HCM and aortic stenosis (AS) showed a universal defect of vinculin/metavinculin expression in the intercalated disc but preserved expression in the cardiac Z-disc, whereas tissue specimens derived from patients with either DCM, hypertensive heart disease (HTN), or pulmonary hypertension (PHTN) exhibited normal expression of vinculin/metavinculin in both the Z-and the intercalated disc despite being associated with hypertrophy.", "output": {"entities": {"gene": [{"text": "metavinculin", "start": 123, "end": 135}], "disease": [{"text": "aortic stenosis", "start": 64, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "However, BRCA1-stimulated network contained BRCA1 activation with endothelium-specific to lysosomal transmembrane and carbamoyl synthetase to tastin, histone cluster and cyclin-induced growth, whereas the corresponding inhibited different complete network included BRCA1 repression with ovalbumin, thyroid stimulating hormone beta and Hu antigen C to cytochrome P450 to transducin-induced inflammation in higher HCC.", "output": {"entities": {"gene": [{"text": "Hu antigen C", "start": 335, "end": 347}], "disease": [{"text": "inflammation", "start": 389, "end": 401}]}, "relations": {}}, "schema": []}
{"input": "Patients lacked mutations in other genes known to cause ACTH resistance, including AAAS for patients diagnosed with triple A syndrome and MC2R and MRAP for patients diagnosed with familial glucocorticoid deficiency.", "output": {"entities": {"gene": [{"text": "MRAP", "start": 147, "end": 151}], "disease": [{"text": "familial glucocorticoid deficiency", "start": 180, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of comorbid psychiatric disorders, including major depression, eating disorder, panic disorder, and borderline personality disorder, was significantly higher in female alcoholics with inactive ALDH2 or superactive ADH1B than in those with active ALDH2 or normal ADH1B.", "output": {"entities": {"gene": [{"text": "ADH1B", "start": 229, "end": 234}], "disease": [{"text": "borderline personality disorder", "start": 115, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "VEGF mRNA and protein levels of two rat glioma cells lines, C6 and GS-9L, were determined after incubation with dexamethasone under normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Follicular lymphoma is characterized by the t (14; 18) translocation resulting in constitutive expression of BCL-2 protein; however approximately 10-15% of follicular lymphomas do not express BCL-2 protein, and a small fraction of these cases does not exhibit translocation of the BCL-2 gene either.", "output": {"entities": {"gene": [{"text": "BCL-2 gene", "start": 281, "end": 291}], "disease": [{"text": "translocation", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "GEF-H1 is important for the growth and survival of HRAS (V12)-transformed cells and pancreatic tumor xenografts.", "output": {"entities": {"gene": [{"text": "GEF-H1", "start": 0, "end": 6}], "disease": [{"text": "pancreatic tumor", "start": 84, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We developed a nonallele-specific adeno-associated virus (AAV)-based RNAi knockdown strategy to rescue the retina degeneration caused by GCAP1 mutations.", "output": {"entities": {"gene": [{"text": "AAV", "start": 58, "end": 61}], "disease": [{"text": "retina degeneration", "start": 107, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We analyzed relationship between the A-3826G polymorphism and body mass index (BMI) or six biochemical parameters, serum concentration of total cholesterol (TC), high density lipoprotein (HDL) cholesterol, triglyceride (TG), asparatate aminotransferase (AST), alanine aminotransferase (ALT), fasting plasma glucose.", "output": {"entities": {"gene": [{"text": "AST", "start": 254, "end": 257}], "disease": [{"text": "body mass index", "start": 62, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Assessment of MGMT expression in neoplastic tissue required careful scrutiny because of its expression in a variety of non-neoplastic cells.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 14, "end": 18}], "disease": [{"text": "non-neoplastic", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that mutations of the tyrosine kinase domain of the MET gene may be involved in the acceleration of the carcinogenesis in childhood HCC.", "output": {"entities": {"gene": [{"text": "MET", "start": 73, "end": 76}], "disease": [{"text": "HCC", "start": 153, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MET", "start": 73, "end": 76}, "tail": {"text": "HCC", "start": 153, "end": 156}}]}}, "schema": []}
{"input": "Interestingly, ESRD-RBC induced increased expression of adhesion molecules was prevented by Annexin-V (AnV, able to mask PS on RBC surface), anti-integrin-alpha (v) beta3, anti-thrombospondin-1 (TSP-1), and PD98059 (a selective inhibitor of MAPK phosphorylation).", "output": {"entities": {"gene": [{"text": "TSP-1", "start": 195, "end": 200}], "disease": [{"text": "adhesion", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "HPLC analysis of the RA content of 0. 1% RA-treated skin in vivo revealed significant levels at 6 h (18. 8-120. 6 ng RA/g wet weight tissue; approximately 240 nM), immediately preceding the time point at which the increased RIS-1 mRNA level was first seen.", "output": {"entities": {"gene": [{"text": "RIS", "start": 224, "end": 227}], "disease": [{"text": "weight", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In an earlier study, we used immunohistochemical detection of epithelial membrane antigen expression with flow cytometric detection of DNA aneuploidy to reduce the number of false negatives.", "output": {"entities": {"gene": [{"text": "epithelial membrane antigen", "start": 62, "end": 89}], "disease": [{"text": "aneuploidy", "start": 139, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Cells lacking ATM kinase activity exhibit a significant decrease in the insulin-induced dissociation of 4E-BP1 from eIF-4E.", "output": {"entities": {"gene": [{"text": "ATM", "start": 14, "end": 17}], "disease": [{"text": "dissociation", "start": 88, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The absence of biochemical abnormalities in the heterozygous individuals suggests that one normal allele is sufficient for secretion of intact FGF23.", "output": {"entities": {"gene": [{"text": "FGF23", "start": 143, "end": 148}], "disease": [{"text": "abnormalities", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Olivopontocerebellar atrophy with retinal degeneration. Fundus characteristics and diagnostic MRI findings.", "output": {"entities": {"gene": [{"text": "MRI", "start": 94, "end": 97}], "disease": [{"text": "retinal degeneration", "start": 34, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "To determine whether polymorphisms in NFKBIA, NFKBIB, and NFKBIE associate with susceptibility to invasive pneumococcal disease (IPD) and thoracic empyema.", "output": {"entities": {"gene": [{"text": "NFKBIB", "start": 46, "end": 52}], "disease": [{"text": "thoracic empyema", "start": 138, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Significant differences in mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH) and HbA2 were found between the two groups.", "output": {"entities": {"gene": [{"text": "MCH", "start": 88, "end": 91}], "disease": [{"text": "mean corpuscular volume", "start": 27, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "GSNOR SNPs were not associated with the degree of atopy.", "output": {"entities": {"gene": [{"text": "GSNOR", "start": 0, "end": 5}], "disease": [{"text": "atopy", "start": 50, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The aim of our work was to study the association of genetic polymorphisms in genes involved in oxidative metabolism and detoxification mechanism, namely GSTM1, GSTT1, GSTP1, and those involved in DNA damage repair, OGG1 and XRCC1, in an Italian cohort of sporadic PD patients.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 153, "end": 158}], "disease": [{"text": "sporadic", "start": 255, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "], corresponding to a truncated alphaR654Dstop subunit, was previously described in patients with retinitis pigmentosa: when expressed in HEK-293 cells, this mutated a subunit was retained inside the cell, but had normal channel activity in one case where it reached the plasma membrane, indicating that the mechanism of targeting is altered by the mutation, but not the function of the channel.", "output": {"entities": {"gene": [{"text": "HEK", "start": 138, "end": 141}], "disease": [{"text": "retinitis pigmentosa", "start": 98, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Of 289, 639 SNPs tested, a variant in the CUB and Sushi multiple domains 1 (CSMD1) gene (rs11136645; MAF = 0. 49), was significantly associated with decreased scar height (regression coefficient =-0. 23, P = 7. 9 × 10).", "output": {"entities": {"gene": [{"text": "CSMD1", "start": 76, "end": 81}], "disease": [{"text": "regression", "start": 172, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Although the underlying mechanisms are still unclear, our findings are consistent with a complex relationship between height, hypertension, GH1 promoter haplotype, GHR polymorphism and the risk of stroke.", "output": {"entities": {"gene": [{"text": "GH1", "start": 140, "end": 143}], "disease": [{"text": "height", "start": 118, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "These findings support CD1 genotype and protein expression as important risk markers for laryngeal cancer and suggest future trials targeting upstream regulators of CD1 transcription.", "output": {"entities": {"gene": [{"text": "CD1", "start": 23, "end": 26}], "disease": [{"text": "laryngeal cancer", "start": 89, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "A series of 80 archival samples, including 20 squamous cervical carcinomas (SCC) 54 cervical intraepithelial neoplasia (CIN) lesions and 6 normal cervical tissues, were subjected for c-FLIP immunohistochemical staining and HPV HC-II analysis.", "output": {"entities": {"gene": [{"text": "HC-II", "start": 227, "end": 232}], "disease": [{"text": "carcinomas", "start": 64, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Highly invasive, brain-metastatic melanoma cells (70W) were transfected with the dominant-negative CREB (KCREB) and subsequently analyzed for changes in their HPSE-1 content, functionality, and cell invasive properties.", "output": {"entities": {"gene": [{"text": "CREB", "start": 99, "end": 103}], "disease": [{"text": "metastatic melanoma", "start": 23, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The expression of RhoC was significantly higher in gastric cancer tissues (23/42, 54. 8%) than in non-tumorous tissues (p < 0. 01).", "output": {"entities": {"gene": [{"text": "RhoC", "start": 18, "end": 22}], "disease": [{"text": "gastric cancer", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.", "output": {"entities": {"gene": [{"text": "TCTN2", "start": 2, "end": 7}], "disease": [{"text": "Meckel Gruber syndrome", "start": 33, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCTN2", "start": 2, "end": 7}, "tail": {"text": "Meckel Gruber syndrome", "start": 33, "end": 55}}]}}, "schema": []}
{"input": "Unexpectedly the CLP 57-65 peptide, to which IgE was found in only 2 healthy donors, but not the other two peptides, was found to elicit an immediate-type hypersensitivity in all 10 healthy volunteers tested.", "output": {"entities": {"gene": [{"text": "CLP", "start": 17, "end": 20}], "disease": [{"text": "hypersensitivity", "start": 155, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "CD4 + T cells and cytokines in the pathogenesis of acquired myasthenia gravis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "myasthenia gravis", "start": 60, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The miRNAs differentially expressed in HCV-related HCC were investigated by comparing the tumorous tissues to a wide range of liver specimens, including healthy livers obtained from liver donors and patients who underwent liver resection for angioma, in addition to tissues from various acute and chronic liver diseases, including HCV-related cirrhosis not associated with HCC, HCV-related cirrhosis associated with HCC and HBV-associated acute liver failure.", "output": {"entities": {"gene": [{"text": "HCC", "start": 51, "end": 54}], "disease": [{"text": "liver diseases", "start": 305, "end": 319}]}, "relations": {}}, "schema": []}
{"input": "Apelin induces enlarged and nonleaky blood vessels for functional recovery from ischemia.", "output": {"entities": {"gene": [{"text": "Apelin", "start": 0, "end": 6}], "disease": [{"text": "ischemia", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data suggest the inclusion of the KCNJ2 gene in the molecular screening of patients with periodic paralysis, even when the classical AS dysmorphic features are not present.", "output": {"entities": {"gene": [{"text": "KCNJ2", "start": 54, "end": 59}], "disease": [{"text": "AS", "start": 153, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ2", "start": 54, "end": 59}, "tail": {"text": "AS", "start": 153, "end": 155}}]}}, "schema": []}
{"input": "Thus, in the hypoxic conditions, OCT4 and SOX2, both of which are induced by HIF1α/HIF2α.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 42, "end": 46}], "disease": [{"text": "hypoxic", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Blockage of nerve growth factor (NGF) by anti-NGF antibodies can inhibit allergic airway hyper-responsiveness in mice.", "output": {"entities": {"gene": [{"text": "NGF", "start": 33, "end": 36}], "disease": [{"text": "airway hyper-responsiveness", "start": 82, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to examine the expression of p18INK4C in various liver diseases including HCC and to assess its clinical significance in HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 100, "end": 103}], "disease": [{"text": "liver diseases", "start": 75, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The associations between genetic polymorphisms in genes from the IGF pathway on mammographic density and circulating levels of IGF1, its binding protein IGFBP3, and their ratio in postmenopausal women are reported here.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 127, "end": 131}], "disease": [{"text": "mammographic density", "start": 80, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Nevertheless, the mechanism by which DeltaNp63alpha might promote tumorigenesis remains poorly understood, and data from mouse models implies that the p63 locus might in fact function as a tumor suppressor in these same tissues.", "output": {"entities": {"gene": [{"text": "p63", "start": 43, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "P-gp levels were 70% and 95% lower in brain metastases from melanomas and lung adenocarcinomas, respectively, than in normal brain tissue.", "output": {"entities": {"gene": [{"text": "P-gp", "start": 0, "end": 4}], "disease": [{"text": "brain metastases", "start": 38, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The LMO1 and LDB1 proteins interact in human T cell acute leukaemia with the chromosomal translocation t (11; 14) (p15; q11).", "output": {"entities": {"gene": [{"text": "LDB1", "start": 13, "end": 17}], "disease": [{"text": "chromosomal translocation", "start": 77, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "At 4 h following pilocarpine-induced seizures, expression of NGF, BDNF, HB-EGF, and FGF-2 increased only in the mice manifesting tonic-clonic convulsions and not in mice without seizures.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 66, "end": 70}], "disease": [{"text": "tonic-clonic convulsions", "start": 129, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BDNF", "start": 66, "end": 70}, "tail": {"text": "tonic-clonic convulsions", "start": 129, "end": 153}}]}}, "schema": []}
{"input": "and c. 643C > T [p. Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia.", "output": {"entities": {"gene": [{"text": "cytochrome c1", "start": 54, "end": 67}], "disease": [{"text": "ketoacidosis", "start": 156, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The recurrent t (12; 21) (p12; q22) translocation fuses two genes, TEL and AML1, that have previously been shown to be independently involved in myeloid malignant proliferations.", "output": {"entities": {"gene": [{"text": "AML1", "start": 75, "end": 79}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PROP1 are the most frequent defect detected in patients with combined pituitary hormone deficiency (MIM #262600), characterized by a clinical phenotype of proportionate growth deficit due to impaired production of growth hormone in combination with deficiency of one or more of the additional anterior pituitary hormones.", "output": {"entities": {"gene": [{"text": "MIM", "start": 113, "end": 116}], "disease": [{"text": "combined pituitary hormone deficiency", "start": 74, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Local arterial knockdown of the Cybb gene significantly inhibited neointimal hyperplasia and preserved the vessel lumen without systemic toxicity.", "output": {"entities": {"gene": [{"text": "Cybb gene", "start": 32, "end": 41}], "disease": [{"text": "hyperplasia", "start": 77, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Administration of an adenoviral vector encoding for HIF-1alpha/VP16, a hybrid transcription factor that is stable in hypoxic and normoxic conditions, restored VEGF expression and completely reversed the cigarette smoke inhibition of angiogenesis in hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 159, "end": 163}], "disease": [{"text": "hypoxic", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Factor V Leiden (FVL) mutation is a risk factor for venous and, to a degree, arterial thrombosis.", "output": {"entities": {"gene": [{"text": "Factor V Leiden", "start": 0, "end": 15}], "disease": [{"text": "arterial thrombosis", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Mice with cardiac-restricted angiotensin-converting enzyme (ACE) have atrial enlargement, cardiac arrhythmia, and sudden death.", "output": {"entities": {"gene": [{"text": "angiotensin-converting enzyme", "start": 29, "end": 58}], "disease": [{"text": "sudden death", "start": 114, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin-converting enzyme", "start": 29, "end": 58}, "tail": {"text": "sudden death", "start": 114, "end": 126}}]}}, "schema": []}
{"input": "EWS gene rearrangements, present in essentially 100% of Ewing' s Sarcoma/peripheral primitive neuroectodermal tumor, were evaluated by FISH on frozen sections (FS) of tumor biopsies from 10 patients, plus a negative control, and in seven other malignant neoplasms of childhood.", "output": {"entities": {"gene": [{"text": "FISH", "start": 135, "end": 139}], "disease": [{"text": "peripheral primitive neuroectodermal tumor", "start": 73, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Numbers of IL-6 mRNA-expressing cells were higher in patients with clinical AIDS than in asymptomatic seropositive patients, and correlated inversely with CD4 + cell counts in blood, reflecting the involvement of IL-6 in later stages of HIV infection.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 11, "end": 15}], "disease": [{"text": "asymptomatic", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis showed that the expression of AGK significantly correlated with patients' clinicopathologic characteristics, including clinical stage and tumor-nodule-metastasis (TNM) classification.", "output": {"entities": {"gene": [{"text": "AGK", "start": 59, "end": 62}], "disease": [{"text": "nodule", "start": 173, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the KBM-7 cell line will be of value for investigating molecular events underlying neoplastic transformation in CML, in particular for studying the effects of BCR-ABL and ABL-BCR on the proliferation of CML cells in the absence of normal BCR and c-ABL messages.", "output": {"entities": {"gene": [{"text": "BCR", "start": 176, "end": 179}], "disease": [{"text": "neoplastic transformation", "start": 100, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "EGFR-activating mutations are more frequent in females, adenocarcinoma and non-smokers patients, and KRAS mutations are more frequent in smoking patients.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Aged Mstn null (Mstn (-/-)) muscles, which display reduced sarcopenia, also show an increased basal antioxidant enzyme (AOE) levels and lower NF-κB levels indicating efficient scavenging of excess ROS.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 142, "end": 147}], "disease": [{"text": "sarcopenia", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "This study was purpose to investigate the frequency of HLA-DRB1 * 15 expression in children with aplastic anemia (AA) and its relation to effect of immunosuppressive therapy.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 55, "end": 63}], "disease": [{"text": "anemia", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Secondary HPT is a common complication of renal failure.", "output": {"entities": {"gene": [{"text": "HPT", "start": 10, "end": 13}], "disease": [{"text": "renal failure", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The dic (17; 18) (p11. 2; p11. 2) was associated with a complex (three or more unrelated cytogenetic abnormalities) karyotype in 12 patients (75%) at the time that the abnormality was first identified, and eventually associated with a complex karyotype in 94% of patients.", "output": {"entities": {"gene": [{"text": "p11", "start": 18, "end": 21}], "disease": [{"text": "cytogenetic abnormalities", "start": 89, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We characterized the genetic defects in all affected families and found all patients affected by citrullinemia type 1 due to mutations of the ASS gene.", "output": {"entities": {"gene": [{"text": "ASS", "start": 142, "end": 145}], "disease": [{"text": "citrullinemia type 1", "start": 97, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASS", "start": 142, "end": 145}, "tail": {"text": "citrullinemia type 1", "start": 97, "end": 117}}]}}, "schema": []}
{"input": "On isolated DNA, microsatellite instability (MSI) and immunohistochemistry of MMR proteins were assessed.", "output": {"entities": {"gene": [{"text": "MMR", "start": 78, "end": 81}], "disease": [{"text": "microsatellite instability", "start": 17, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "By contrast, early-onset vincristine-induced peripheral neuropathy was characterised by upregulation of genes involved in cell cycle and proliferation, including AURKA (3 & #183; 31 times; p = 1 & #183; 04 & #215; 10 (-2)) and MKI67 (3 & #183; 66 times; p = 1 & #183; 82 & #215; 10 (-3)), and the presence of SNPs in genes involved in these processes-eg, GLI1 (rs2228224 [0 & #183; 13, 0 & #183; 02-0 & #183; 97, p = 1 & #183; 18 & #215; 10 (-2)] and rs2242578 [0 & #183; 14, 0 & #183; 02-1 & #183; 12, p = 3 & #183; 00 & #215; 10 (-2)]).", "output": {"entities": {"gene": [{"text": "AURKA", "start": 162, "end": 167}], "disease": [{"text": "peripheral neuropathy", "start": 45, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AURKA", "start": 162, "end": 167}, "tail": {"text": "peripheral neuropathy", "start": 45, "end": 66}}]}}, "schema": []}
{"input": "These results provide further support for a causative role for GFAP mutations in Alexander disease, and suggest DNA sequencing as an alternative diagnostic to biopsy.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 63, "end": 67}], "disease": [{"text": "Alexander disease", "start": 81, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 63, "end": 67}, "tail": {"text": "Alexander disease", "start": 81, "end": 98}}]}}, "schema": []}
{"input": "TLR2, TLR4, and iNOS expression was significantly (P < 0. 05) higher in C. trachomatis-positive women with FD, MPC, and asymptomatic women, respectively, than in control.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 6, "end": 10}], "disease": [{"text": "asymptomatic", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Blockade of Dll4-Notch signaling using neutralizing anti-Dll4 antibody attenuated the development of atherosclerosis, diminished plaque calcification, improved insulin resistance, and decreased fat accumulation.", "output": {"entities": {"gene": [{"text": "Dll4", "start": 12, "end": 16}], "disease": [{"text": "plaque", "start": 129, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Expression of MR was demonstrated in VAT, with no difference between APA and NFA as to mRNA levels of MR, GRalpha, HSD11B1, and glucose metabolism and inflammation factors.", "output": {"entities": {"gene": [{"text": "APA", "start": 69, "end": 72}], "disease": [{"text": "inflammation", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Thus, Pin1 is an essential regulator of TRF1 stability, telomere maintenance and ageing.", "output": {"entities": {"gene": [{"text": "TRF1", "start": 40, "end": 44}], "disease": [{"text": "ageing", "start": 81, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "This longitudinal MRI study establishes unequivocally that, in the experimental murine model of ALS, muscle degeneration occurs before any evidence of neurodegeneration and clinical signs, supporting the postulate that motor neuron disease can initiate from muscle damage and result from retrograde dying-back of the motor neurons.", "output": {"entities": {"gene": [{"text": "MRI", "start": 18, "end": 21}], "disease": [{"text": "muscle degeneration", "start": 101, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Reduced GST alpha expression was significantly associated with steatosis in HCA and HCC (n = 12, p = 0. 006), but not in non-neoplastic liver tissue.", "output": {"entities": {"gene": [{"text": "HCC", "start": 84, "end": 87}], "disease": [{"text": "non-neoplastic", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Here we investigated whether specific inhibition of Rac1 by NSC23766 is as effective as lovastatin in preventing subacute cardiotoxicity following doxorubicin treatment.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 52, "end": 56}], "disease": [{"text": "cardiotoxicity", "start": 122, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rac1", "start": 52, "end": 56}, "tail": {"text": "cardiotoxicity", "start": 122, "end": 136}}]}}, "schema": []}
{"input": "Here we report the first study that tries to replicate this finding and we provide further evidence that IRF6 contributes to isolated tooth agenesis.", "output": {"entities": {"gene": [{"text": "IRF6", "start": 105, "end": 109}], "disease": [{"text": "tooth agenesis", "start": 134, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of BMP4 and TGF-β by noggin and SB-431542, respectively, mimicked the FTS-mediated effects on adhesion, spreading, and cell morphology.", "output": {"entities": {"gene": [{"text": "FTS", "start": 81, "end": 84}], "disease": [{"text": "adhesion", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Specimens from 40 breast cancer patients (tumor tissues, adjacent normal tissues), 15 fibroadenoma were detected for their expression of the Syk gene and level of Syk mRNA by semi-RT-PCR technique.", "output": {"entities": {"gene": [{"text": "Syk gene", "start": 141, "end": 149}], "disease": [{"text": "fibroadenoma", "start": 86, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation.", "output": {"entities": {"gene": [{"text": "FAT1", "start": 30, "end": 34}], "disease": [{"text": "somatic mutation", "start": 10, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe a balanced translocation between chromosome 9 and an X chromosome that disrupts the minor fibrillar collagen type V gene COL5A1 in a patient with both EDS type I and hypomelanosis of Ito.", "output": {"entities": {"gene": [{"text": "COL5A1", "start": 139, "end": 145}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In contrast, we observed Q209 mutations in GNAQ in 55% of blue nevi, 45% of uveal melanomas, and 22% of uveal melanoma metastases.", "output": {"entities": {"gene": [{"text": "GNAQ", "start": 43, "end": 47}], "disease": [{"text": "uveal melanoma", "start": 76, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAQ", "start": 43, "end": 47}, "tail": {"text": "uveal melanoma", "start": 76, "end": 90}}]}}, "schema": []}
{"input": "Down-regulation of ADAMTS1 was observed in 30% (3/10) of the NSCLC cell lines, and this down-regulation was found to be concordant with aberrant methylation of the gene.", "output": {"entities": {"gene": [{"text": "ADAMTS1", "start": 19, "end": 26}], "disease": [{"text": "NSCLC", "start": 61, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADAMTS1", "start": 19, "end": 26}, "tail": {"text": "NSCLC", "start": 61, "end": 66}}]}}, "schema": []}
{"input": "Genes associated with both the β-catenin dependent (AXIN2, MYC, CSNK1A1) and independent arms (ROR2, JUN), as well as general Wnt secretion (PORCN) of the Wnt signalling pathway were upregulated in the TamR cells compared to the parental MCF7 cell line.", "output": {"entities": {"gene": [{"text": "JUN", "start": 101, "end": 104}], "disease": [{"text": "arms", "start": 89, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In vitro, the mutant protein is constitutively activated through disruption of an autoinhibitory domain in the wild-type protein, indicating that loss of WASP autoinhibition is a key event in XLN.", "output": {"entities": {"gene": [{"text": "WASP", "start": 154, "end": 158}], "disease": [{"text": "XLN", "start": 192, "end": 195}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WASP", "start": 154, "end": 158}, "tail": {"text": "XLN", "start": 192, "end": 195}}]}}, "schema": []}
{"input": "However, the significance of the altered TGF-beta signaling in heart failure in the chronic phase of post-myocardial infarction (MI), particularly in the ongoing remodeling of the infarct scar, remains unexplored.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 41, "end": 49}], "disease": [{"text": "infarct", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "When diabetic complication were analysed as a whole, miR-126-3p and miR-21-5p levels declined significantly from CTR to T2DM NC and T2DM C patients.", "output": {"entities": {"gene": [{"text": "CTR", "start": 113, "end": 116}], "disease": [{"text": "diabetic complication", "start": 5, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Some cytogenetic anomalies present in UBC were found in the three cell lines, such as chromosome 20 aneuploidy and the loss of 9p21.", "output": {"entities": {"gene": [{"text": "UBC", "start": 38, "end": 41}], "disease": [{"text": "aneuploidy", "start": 100, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Here we show that lithium, a pharmacological agent used for the management of psychiatric disorders such as bipolar disorder, schizophrenia, and depression, regulates Akt/glycogen synthase kinase 3 (GSK3) signaling and related behaviors in mice by disrupting a signaling complex composed of Akt, beta-arrestin 2, and protein phosphatase 2A.", "output": {"entities": {"gene": [{"text": "beta-arrestin 2", "start": 296, "end": 311}], "disease": [{"text": "bipolar disorder", "start": 108, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-arrestin 2", "start": 296, "end": 311}, "tail": {"text": "bipolar disorder", "start": 108, "end": 124}}]}}, "schema": []}
{"input": "Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD.", "output": {"entities": {"gene": [{"text": "C21orf2", "start": 29, "end": 36}], "disease": [{"text": "axial SMD", "start": 81, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C21orf2", "start": 29, "end": 36}, "tail": {"text": "axial SMD", "start": 81, "end": 90}}]}}, "schema": []}
{"input": "Using logistic regression, when we adjusted for waist circumference, two SNPs (rs11465886, IRAK2, chromosome 3, OR = 3. 91, P value = 1. 10 × 10 (-04); and rs17751769, SERPINA1, chromosome 14, OR = 1. 96, P value = 2. 42 × 10 (-04)) associated positively with a CAC score of > 0 Agatston unit; one SNP (rs630014, ABO, OR = 0. 51, P value = 2. 51 × 10 (-04)) associated negatively; none remained significant after correcting for multiple testing.", "output": {"entities": {"gene": [{"text": "ABO", "start": 313, "end": 316}], "disease": [{"text": "waist circumference", "start": 48, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Antitumor effects of PLGA nanoparticles encapsulating the human PNAS-4 gene combined with cisplatin in ovarian cancer.", "output": {"entities": {"gene": [{"text": "PNAS-4", "start": 64, "end": 70}], "disease": [{"text": "ovarian cancer", "start": 103, "end": 117}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PNAS-4", "start": 64, "end": 70}, "tail": {"text": "ovarian cancer", "start": 103, "end": 117}}]}}, "schema": []}
{"input": "We link early renal hypertrophy with significant reduction in PTEN expression in the streptozotocin-induced diabetic kidney cortex and glomeruli, concomitant with activation of Akt.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 62, "end": 66}], "disease": [{"text": "renal hypertrophy", "start": 14, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "We have evaluated seven MEFV mutations in 460 chromosomes of 230 unrelated patients with FMF living in Turkey, using PCR methods.", "output": {"entities": {"gene": [{"text": "MEFV", "start": 24, "end": 28}], "disease": [{"text": "FMF", "start": 89, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEFV", "start": 24, "end": 28}, "tail": {"text": "FMF", "start": 89, "end": 92}}]}}, "schema": []}
{"input": "Circulating anti-nephrin antibodies seem to have a pathogenic role in the development of heavy proteinuria in kidney grafts of NPHS1 patients with Fin-major/Fin-major genotype.", "output": {"entities": {"gene": [{"text": "NPHS1", "start": 127, "end": 132}], "disease": [{"text": "heavy proteinuria", "start": 89, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "A potential role for sterol 27-hydroxylase in atherogenesis.", "output": {"entities": {"gene": [{"text": "sterol 27-hydroxylase", "start": 21, "end": 42}], "disease": [{"text": "atherogenesis", "start": 46, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sterol 27-hydroxylase", "start": 21, "end": 42}, "tail": {"text": "atherogenesis", "start": 46, "end": 59}}]}}, "schema": []}
{"input": "In the unilateral ureteral obstruction model, we observed higher PGC-1α protein expression and IHG-1 levels with fibrosis.", "output": {"entities": {"gene": [{"text": "PGC-1α", "start": 65, "end": 71}], "disease": [{"text": "fibrosis", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Our findings provide strong evidence that SEMA3D confers susceptibility to schizophrenia, which could contribute to the neurodevelopmental impairments in the disorder.", "output": {"entities": {"gene": [{"text": "SEMA3D", "start": 42, "end": 48}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEMA3D", "start": 42, "end": 48}, "tail": {"text": "schizophrenia", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "Our objective was to evaluate whether polycystic ovarian syndrome (PCOS)-associated infertility is related to alterations of leptin, leptin receptor (Ob-R), and the phosphorylated signal transducer and activator of transcription 3 (p-STAT3)/suppressor of cytokine signal 3 (SOCS3) system in the ovary.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 234, "end": 239}], "disease": [{"text": "infertility", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "A magnetic resonance imaging (MRI) revealed abnormal high intensities in the putamen and globus pallidi on T2-weighted images when he was 6 months old, and more diffuse abnormal signal intensities over bilateral hemispheres were noted when he was 3 years old.", "output": {"entities": {"gene": [{"text": "MRI", "start": 30, "end": 33}], "disease": [{"text": "globus", "start": 89, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The HIF-1α-p75NTR-EMT axis may play a central role in glioma tumorigenesis.", "output": {"entities": {"gene": [{"text": "p75NTR", "start": 11, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "This is the first study to report an association between FOXP3 polymorphisms and endometriosis and/or infertility.", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 57, "end": 62}], "disease": [{"text": "infertility", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that positive CD146 expression, and average microvessel and lymph vessel counts in gallbladder adenocarcinomas were significantly higher than those in peritumoral tissues, polyps, and chronic cholecystitis (ps < 0. 01).", "output": {"entities": {"gene": [{"text": "CD146", "start": 30, "end": 35}], "disease": [{"text": "polyps", "start": 188, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "The significant difference of infarction areas on day 3 was detected only between the MSC-HGF group and the PBS group with the superacute treatment, but was detected among each group on day 14 with both transplantations.", "output": {"entities": {"gene": [{"text": "MSC", "start": 86, "end": 89}], "disease": [{"text": "infarction", "start": 30, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we comprehensively addressed the relationship between Ucr-correction and UFR-correction of ten urinary biomarkers N-acetyl-& #946;-d-glucosaminidase (NAG), lactate dehydrogenase (LDH), total protein, albumin, kidney injury molecule-1, neutrophil gelatinase-associated lipocalin, clusterin, & #946; (2)-microglobulin, cystatin-c and glutathione S-transferase-& #945; in non-steady state situations such as AKI.", "output": {"entities": {"gene": [{"text": "clusterin", "start": 290, "end": 299}], "disease": [{"text": "AKI", "start": 416, "end": 419}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "clusterin", "start": 290, "end": 299}, "tail": {"text": "AKI", "start": 416, "end": 419}}]}}, "schema": []}
{"input": "These findings suggest that AC3 plays an important role in the regulation of body weight.", "output": {"entities": {"gene": [{"text": "AC3", "start": 28, "end": 31}], "disease": [{"text": "body weight", "start": 77, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the antitumor effect of a novel hypoxic cytotoxin, 3-[2-hydroxyethyl (methyl) amino]-2-quinoxalinecarbonitrile 1, 4-dioxide (TX-2098) in inhibiting the expression of hypoxia inducible factor-1α (HIF-1α), and consequently vascular endothelial cell growth factor (VEGF) expression in pancreatic cancer.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 300, "end": 304}], "disease": [{"text": "hypoxic", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "With contrast enhanced magnetic resonance imaging (MRI) we can detect more cases of TMJ arthritis than ever before.", "output": {"entities": {"gene": [{"text": "MRI", "start": 51, "end": 54}], "disease": [{"text": "arthritis", "start": 88, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "IGF-I gene polymorphisms are associated with birth weight in some studies but not in all.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 0, "end": 5}], "disease": [{"text": "birth weight", "start": 45, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Functionally, knockdown of ERRF in two ER-positive breast cancer cell lines, T-47D and MDA-MB-361, suppressed cell growth in vitro and tumorigenesis in xenograft models.", "output": {"entities": {"gene": [{"text": "ERRF", "start": 27, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "This study offers the first in vivo evidence of a critical role for intracellular signaling pathways downstream of the ShcA PTB domain, which both positively and negatively regulate tumorigenesis during various stages of breast cancer progression.", "output": {"entities": {"gene": [{"text": "ShcA", "start": 119, "end": 123}], "disease": [{"text": "tumorigenesis", "start": 182, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that breast tumor-associated macrophages produce VEGF and that macrophage production of this factor is regulated by both hypoxia and TGFbeta-1.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 65, "end": 69}], "disease": [{"text": "hypoxia", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the role of Hsp20 in DOX-triggered cardiac toxicity, Hsp20 was first overexpressed ex vivo by adenovirus-mediated gene delivery.", "output": {"entities": {"gene": [{"text": "Hsp20", "start": 25, "end": 30}], "disease": [{"text": "adenovirus", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "As far as is known, the present study is the first to identify a potential association between POU5F1 and the development of POF.", "output": {"entities": {"gene": [{"text": "POU5F1", "start": 95, "end": 101}], "disease": [{"text": "POF", "start": 125, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POU5F1", "start": 95, "end": 101}, "tail": {"text": "POF", "start": 125, "end": 128}}]}}, "schema": []}
{"input": "Relaxin 3 (RLN3, also known as INSL7) is a recently identified member of the insulin/relaxin superfamily that plays a role in the regulation of appetite and body weight control.", "output": {"entities": {"gene": [{"text": "RLN3", "start": 11, "end": 15}], "disease": [{"text": "body weight", "start": 157, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "As expected the therapeutical effect of PSD was only transient and most patients experienced an exacerbation of depressive symptoms on day 2.", "output": {"entities": {"gene": [{"text": "PSD", "start": 40, "end": 43}], "disease": [{"text": "depressive symptoms", "start": 112, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In total, the genes CNRIP1, FBN1, INA, MAL, SNCA, and SPG20 were methylated in 53%, 23%, 52%, 69%, 97%, and 92% of the tumor samples, respectively, and were unmethylated in all healthy controls.", "output": {"entities": {"gene": [{"text": "CNRIP1", "start": 20, "end": 26}], "disease": [{"text": "tumor", "start": 119, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Individuals with tuberous sclerosis complex (TSC) develop astrocytoma-like tumors resulting from mutations in the TSC2 protein, tuberin, which is hypothesized to function as a Rap1 GTPase activating protein (GAP).", "output": {"entities": {"gene": [{"text": "Rap1 GTPase activating protein", "start": 176, "end": 206}], "disease": [{"text": "astrocytoma", "start": 58, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown significantly more DYRK1A-positive NFTs in DS brains than in sporadic Alzheimer disease (AD) brains.", "output": {"entities": {"gene": [{"text": "DYRK1A", "start": 44, "end": 50}], "disease": [{"text": "sporadic", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of Shp2 activity through AKAP-Lbc-anchored PKA is a previously unrecognized mechanism that may promote pathological cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "AKAP-Lbc", "start": 36, "end": 44}], "disease": [{"text": "cardiac hypertrophy", "start": 127, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We conclude that Gas6-induced Axl signaling is a critical driver of pancreatic cancer progression and its inhibition with low-dose warfarin or other Axl-targeting agents may improve outcome in patients with Axl-expressing tumors.", "output": {"entities": {"gene": [{"text": "Axl", "start": 30, "end": 33}], "disease": [{"text": "pancreatic cancer", "start": 68, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Axl", "start": 30, "end": 33}, "tail": {"text": "pancreatic cancer", "start": 68, "end": 85}}]}}, "schema": []}
{"input": "Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 170, "end": 174}], "disease": [{"text": "white matter disease", "start": 96, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Functional consequences of LMWPTP overexpression or downregulation were determined using migration and adhesion assays, confocal microscopy, Western blotting, and proliferation assays.", "output": {"entities": {"gene": [{"text": "LMWPTP", "start": 27, "end": 33}], "disease": [{"text": "adhesion", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "TAR-DNA-binding protein-43 (TDP-43) C-terminus encodes a prion-like domain widely presented in RNA-binding proteins, which functions to form dynamic oligomers and also, amazingly, hosts most amyotrophic lateral sclerosis (ALS)-causing mutations.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 4, "end": 23}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 191, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Functional comparison of PRSS1 variants found in sporadic and hereditary cases is needed to resolve this dilemma.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 25, "end": 30}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, although both PTCH1 and SUFU play a key role in the sonic hedgehog signalling pathway, PTCH1 does not make an appreciable contribution to non-familial sporadic medulloblastoma, whereas inactivating germline mutations of SUFU cause ~ 2-3% of sporadic medulloblastomas and > 10% of desmoplastic medulloblastomas.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 37, "end": 41}], "disease": [{"text": "sporadic", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We sought to further investigate the contribution of germline PTCH1 and SUFU mutations to familial and sporadic medulloblastoma.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 72, "end": 76}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe two distinct PIEZO2 mutations in patients with a subtype of Distal Arthrogryposis Type 5 characterized by generalized autosomal dominant contractures with limited eye movements, restrictive lung disease, and variable absence of cruciate knee ligaments.", "output": {"entities": {"gene": [{"text": "PIEZO2", "start": 31, "end": 37}], "disease": [{"text": "restrictive lung disease", "start": 196, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "These may, in part, explain the decreased omentin-1 levels observed in our overweight women with PCOS.", "output": {"entities": {"gene": [{"text": "omentin", "start": 42, "end": 49}], "disease": [{"text": "overweight", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The depletion of IQGAP1 expression by siRNA significantly blocked the proliferative activity of constitutively active RhoC, while RhoC silencing by siRNA had no effect on IQGAP1-induced proliferation in gastric cancer cells.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 118, "end": 122}], "disease": [{"text": "gastric cancer", "start": 203, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Recurrent group A Streptococcus (GAS) tonsillitis and associated autoimmune diseases indicate that the immune response to this organism can be ineffective and pathological.", "output": {"entities": {"gene": [{"text": "GAS", "start": 33, "end": 36}], "disease": [{"text": "autoimmune diseases", "start": 65, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, more than 90% of the carcinomas show microsatellite instability (MSI) due to a loss of mismatch repair (MMR) function.", "output": {"entities": {"gene": [{"text": "MMR", "start": 167, "end": 170}], "disease": [{"text": "microsatellite instability", "start": 100, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "RHOA G17V-mutated cases had a significantly higher incidence of splenomegaly and B symptoms at diagnosis, but there was no difference in overall survival between mutated and wild-type subgroups.", "output": {"entities": {"gene": [{"text": "RHOA", "start": 0, "end": 4}], "disease": [{"text": "splenomegaly", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results demonstrated that 6-shogaol enhances TRAIL-mediated apoptosis in renal carcinoma Caki cells via ROS-mediated cytochrome c release and down-regulation of c-FLIP (L) expression.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 137, "end": 149}], "disease": [{"text": "renal carcinoma", "start": 93, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "This translocation fuses two genes, TEL and AML1, and results in the production of the TEL-AML1 fusion protein.", "output": {"entities": {"gene": [{"text": "AML1", "start": 44, "end": 48}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the presence of EML4-ALK appears to be mutually exclusive for EGFR and KRAS mutations (P = 0. 00018), whereas coexisting with TP53 mutations at a low frequency (1/11 = 9. 1%), and correlating with non-or light smoking (P = 0. 040), in line with the TTF-1 immunoreactivity.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 75, "end": 79}], "disease": [{"text": "smoking", "start": 223, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in the proinflammatory cytokine genes tumor necrosis factor-alpha (TNF) and lymphotoxin-alpha (LTA, also called TNF-beta) have been associated with asthma and atopy in some studies.", "output": {"entities": {"gene": [{"text": "TNF", "start": 81, "end": 84}], "disease": [{"text": "atopy", "start": 173, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Apelin and apelin receptor levels were independently predicted by body mass index.", "output": {"entities": {"gene": [{"text": "Apelin", "start": 0, "end": 6}], "disease": [{"text": "body mass index", "start": 66, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "There were no significant differences in the genotype and allele distributions for any of five SNPs in the IKAP gene (T819C, G2295A, A2490G, T3214A and C3473T) between patients with atopic asthma or other atopic diseases and healthy controls.", "output": {"entities": {"gene": [{"text": "IKAP", "start": 107, "end": 111}], "disease": [{"text": "atopic", "start": 182, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Genetic ablation of VIAAT in glycinergic neurons causes a severe respiratory phenotype and perinatal death.", "output": {"entities": {"gene": [{"text": "VIAAT", "start": 20, "end": 25}], "disease": [{"text": "perinatal death", "start": 91, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Since the lifelong persistence of B19 DNA in bone marrow, skin, synovia, tonsils, and liver was previously reported, the aim of our study was to investigate the possibility of asymptomatic B19 DNA persistence in heart tissue.", "output": {"entities": {"gene": [{"text": "B19", "start": 34, "end": 37}], "disease": [{"text": "asymptomatic", "start": 176, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "There is compelling evidence to indicate an important role for increased local renin-angiotensin system activity in the pathogenesis of cardiac hypertrophy and heart failure.", "output": {"entities": {"gene": [{"text": "renin", "start": 79, "end": 84}], "disease": [{"text": "cardiac hypertrophy", "start": 136, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "renin", "start": 79, "end": 84}, "tail": {"text": "cardiac hypertrophy", "start": 136, "end": 155}}]}}, "schema": []}
{"input": "Pro-inflammatory pathways activated by interferon gamma (IFNγ) and toll-like receptor 4 (TLR4) ligands are profoundly involved in plaque formation and have been shown to involve cross-talk in all atheroma-interacting cell types leading to increased activation of signal transducer and activator of transcription-1 (STAT1) and elevated expression of pro-inflammatory mediators.", "output": {"entities": {"gene": [{"text": "interferon gamma", "start": 39, "end": 55}], "disease": [{"text": "atheroma", "start": 196, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Current-smoking and the ALDH2 * 2 allele additively increased the risk of MI (adjusted odds ratio 4. 54, 95% confidence interval 2. 25-9. 15), although this combination was not associated with the risk of SA.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 24, "end": 29}], "disease": [{"text": "smoking", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "The identification of the proteins that form tip links have shed new light on the molecular basis of MET and the mechanisms causing hereditary deafness, noise-induced hearing loss and presbycusis.", "output": {"entities": {"gene": [{"text": "MET", "start": 101, "end": 104}], "disease": [{"text": "presbycusis", "start": 184, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, RNAi-mediated knockdown of RIP1 expression is sufficient to sensitize human breast tumor cells to TRAIL-induced apoptosis through a NF-kappaB-independent, mitochondria-operated pathway.", "output": {"entities": {"gene": [{"text": "RIP1", "start": 42, "end": 46}], "disease": [{"text": "breast tumor", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Pseudomonas aeruginosa keratitis destroys the cornea in susceptible Th1 responder C57BL/6 (B6), but not resistant Th2 responder (BALB/c) mice.", "output": {"entities": {"gene": [{"text": "Th1", "start": 68, "end": 71}], "disease": [{"text": "keratitis", "start": 23, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that the OPG/RANK/RANKL axis could be involved in the pathogenesis of heart failure (HF), and this hypothesis was investigated in both experimental and clinical studies.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 34, "end": 39}], "disease": [{"text": "heart failure", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data suggest that RTP801 is an important RA-regulated gene involved in myeloid differentiation, which could represent a therapeutic target in leukemia.", "output": {"entities": {"gene": [{"text": "RTP801", "start": 38, "end": 44}], "disease": [{"text": "leukemia", "start": 162, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "RTP801", "start": 38, "end": 44}, "tail": {"text": "leukemia", "start": 162, "end": 170}}]}}, "schema": []}
{"input": "The early stimulatory and late inhibitory effect exerted by IL-6 and TGF-beta respectively on fibrinogen mRNA level may play a role in the regulatory mechanism (s) of clot formation in a variety of conditions.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 69, "end": 77}], "disease": [{"text": "fibrinogen", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Brca1 (-/-) BM cells also show FA-like hypersensitivity to the DNA crosslinking agent mitomycin C, and karyotypes feature genomic instability.", "output": {"entities": {"gene": [{"text": "Brca1", "start": 0, "end": 5}], "disease": [{"text": "genomic instability", "start": 122, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "We have extended our LOH analysis of chromosome 3p to include 102 ovarian tumor specimens (29 and 73 samples were previously examined for LOH of chromosome 3p and 17 markers, respectively), using additional polymorphic markers, to assess the coordinate LOH of loci representing the three chromosome 3p minimal regions of deletions [von Hippel-Lindau syndrome (VHL), thyroid hormone receptor beta, and fragile histidine triad (FHIT)] and LOH of other important loci [tumor protein 53 (TP53), breast cancer 1 early onset (BRCA1), breast cancer 2 early onset, retinoblastoma 1, ornithine carbamoyltransferase, and androgen receptor] or somatic mutations in TP53.", "output": {"entities": {"gene": [{"text": "ornithine carbamoyltransferase", "start": 575, "end": 605}], "disease": [{"text": "ovarian tumor", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Loss of CDX2 expression and microsatellite instability are prominent features of large cell minimally differentiated carcinomas of the colon.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 8, "end": 12}], "disease": [{"text": "microsatellite instability", "start": 28, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.", "output": {"entities": {"gene": [{"text": "VHL", "start": 53, "end": 56}], "disease": [{"text": "Von Hippel-Lindau disease", "start": 26, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VHL", "start": 53, "end": 56}, "tail": {"text": "Von Hippel-Lindau disease", "start": 26, "end": 51}}]}}, "schema": []}
{"input": "Among normal-weight patients only, both carriers of the APE1 148Glu and the XRCC1 399Gln alleles had decreased risk of acute skin reactions after radiotherapy (HR, 0. 49 and 0. 51, respectively).", "output": {"entities": {"gene": [{"text": "APE1", "start": 56, "end": 60}], "disease": [{"text": "weight", "start": 13, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events.", "output": {"entities": {"gene": [{"text": "SPC", "start": 203, "end": 206}], "disease": [{"text": "hypophosphatemia", "start": 266, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to assess the impact of the DIO2 Thr92Ala variant on type 2 diabetes (T2D), obesity, and related quantitative metabolic traits including measures of insulin resistance.", "output": {"entities": {"gene": [{"text": "DIO2", "start": 61, "end": 65}], "disease": [{"text": "insulin resistance", "start": 182, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of the Arg allele of the Arg16Gly polymorphism in the beta2-ADR gene was higher (49%) in males with a body mass index (BMI) of 35 kg/m2 or higher versus those with a BMI less than 35 kg/m2 (33%; P =. 010).", "output": {"entities": {"gene": [{"text": "beta2", "start": 69, "end": 74}], "disease": [{"text": "body mass index", "start": 117, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Promoter hypermethylation of HOXA9, RASSF1A, APC, CDH13, HOXB5, SCGB3A1 (HIN-1), CRABP1, and MLH1 was found in 51% (26/51), 49% (23/47), 24% (12/51), 20% (10/51), 12% (6/52), 10% (5/52), 4% (2/48), and 2% (1/51) of the carcinomas, respectively, whereas ADAMTS1, MGMT, NR3C1, p14ARF, and p16INK4a were unmethylated in all samples.", "output": {"entities": {"gene": [{"text": "ADAMTS1", "start": 253, "end": 260}], "disease": [{"text": "carcinomas", "start": 219, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "The IL1RN expression level was lower in the OPL cases with severe dysplasia compared to those with mild/moderate dysplasia.", "output": {"entities": {"gene": [{"text": "IL1RN", "start": 4, "end": 9}], "disease": [{"text": "mild", "start": 99, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We analyzed 18 single nucleotide polymorphisms (SNPs) in the GAD2-gene region for associations with psychiatric diagnosis and behavioral inhibition (BI) derived from the personality traits neuroticism and extraversion as defined by the Eysenck Personality Questionaire (EPQ).", "output": {"entities": {"gene": [{"text": "GAD2", "start": 61, "end": 65}], "disease": [{"text": "personality traits", "start": 170, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Trpm2-deficient mice exhibited mood disturbances and impairments in social cognition.", "output": {"entities": {"gene": [{"text": "Trpm2", "start": 0, "end": 5}], "disease": [{"text": "mood disturbances", "start": 31, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Trpm2", "start": 0, "end": 5}, "tail": {"text": "mood disturbances", "start": 31, "end": 48}}]}}, "schema": []}
{"input": "In our laboratory, two novel continuous human colon cancer cell lines, SHT-1 and SHH-1, have been established in vitro from Chinese patients, and both cell lines have been passaged for 4 yr, and they have been continuously subcultured with more than 800 population doubling and without signs of senescence.", "output": {"entities": {"gene": [{"text": "SHH", "start": 81, "end": 84}], "disease": [{"text": "colon cancer", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Synaptic depression via mGluR1 positive allosteric modulation suppresses cue-induced cocaine craving.", "output": {"entities": {"gene": [{"text": "mGluR1", "start": 24, "end": 30}], "disease": [{"text": "depression", "start": 9, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR1", "start": 24, "end": 30}, "tail": {"text": "depression", "start": 9, "end": 19}}]}}, "schema": []}
{"input": "We have recently reported lipid/glucose metabolism abnormalities and increased liver triglyceride content in an AT-selective transgenic model overexpressing ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1), the AdiposeENPP1-Tg mouse.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 209, "end": 214}], "disease": [{"text": "abnormalities", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The monomeric RalGTPases, RalA and RalB are recognized as components of a regulatory framework supporting tumorigenic transformation.", "output": {"entities": {"gene": [{"text": "RalA", "start": 26, "end": 30}], "disease": [{"text": "tumorigenic transformation", "start": 106, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "E-cadherin abnormalities resulting from CPG methylation promoter in metastatic and nonmetastatic oral cancer.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 0, "end": 10}], "disease": [{"text": "abnormalities", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The methylation-specific polymerase chain reaction (MSP) with primers for methylated (M-MSP) and unmethylated (U-MSP) alleles of the p15, p16, p18, and RB genes was used to study five leukemic cell lines, 50 acute myeloid leukemia (AML) and 25 acute lymphoblastic leukemia (ALL) samples.", "output": {"entities": {"gene": [{"text": "MSP", "start": 52, "end": 55}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 244, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia, primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis.", "output": {"entities": {"gene": [{"text": "MED", "start": 31, "end": 34}], "disease": [{"text": "mild", "start": 52, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The frequencies of the CHEK2 p. H371Y in familial and unselected breast cancer cases and controls were 4. 24% (5/118), 1. 76% (16/909), and 0. 73% (9/1228), respectively.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 23, "end": 28}], "disease": [{"text": "breast cancer", "start": 65, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHEK2", "start": 23, "end": 28}, "tail": {"text": "breast cancer", "start": 65, "end": 78}}]}}, "schema": []}
{"input": "An autosomal recessive form of juvenile Parkinsonism (AR-JP) (MIM 600116) is a levodopa-responsive Parkinsonism whose pathological finding is a highly selective degeneration of dopaminergic neurons in the zona compacta of the substantia nigra.", "output": {"entities": {"gene": [{"text": "AR-JP", "start": 54, "end": 59}], "disease": [{"text": "zona", "start": 205, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Smad1 has previously been shown to play a key role in the development of diabetic nephropathy (DN), by increasing synthesis of extracellular matrix.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 0, "end": 5}], "disease": [{"text": "diabetic nephropathy", "start": 73, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The frequency of IL-4 + IFN-gamma-IL-10-CD4 + cells (Th2) was significantly higher in the group with mild atopic asthma than in that with mild non-atopic asthma.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 34, "end": 39}], "disease": [{"text": "mild", "start": 101, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the patients with type I FAP are well known to have the variant TTR in the serum.", "output": {"entities": {"gene": [{"text": "TTR", "start": 77, "end": 80}], "disease": [{"text": "FAP", "start": 38, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTR", "start": 77, "end": 80}, "tail": {"text": "FAP", "start": 38, "end": 41}}]}}, "schema": []}
{"input": "One hundred Italian patients affected with CHD (90 had sporadic non-syndromic CHD and 10 had syndromic CHD) were screened for NKX2. 5 mutations.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 126, "end": 133}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In addition, SAH caused large increases in markers of inflammation, including TNFalpha and NFkappaB, and markers of cell injury or cell death, including IgG endocytosis and caspase-3 activation, with glibenclamide significantly reducing these effects.", "output": {"entities": {"gene": [{"text": "SAH", "start": 13, "end": 16}], "disease": [{"text": "inflammation", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Thirty three different CTSK mutations have been found in 59 unrelated pycnodysostosis families.", "output": {"entities": {"gene": [{"text": "CTSK", "start": 23, "end": 27}], "disease": [{"text": "pycnodysostosis", "start": 70, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTSK", "start": 23, "end": 27}, "tail": {"text": "pycnodysostosis", "start": 70, "end": 85}}]}}, "schema": []}
{"input": "We here report mutations identified in the DHCR7 gene of 13 children diagnosed with SLOS by clinical and biochemical criteria.", "output": {"entities": {"gene": [{"text": "DHCR7", "start": 43, "end": 48}], "disease": [{"text": "SLOS", "start": 84, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DHCR7", "start": 43, "end": 48}, "tail": {"text": "SLOS", "start": 84, "end": 88}}]}}, "schema": []}
{"input": "To investigate the expression of adenosine A3 receptor (A3AR) in human colonic epithelial cells and the effects of A3AR activation on tumor necrosis factor alpha (TNF-α-) induced inflammation in order to determine its mechanism of action in human colonic epithelial cells, human colonic epithelial cells (HT-29 cells) were treated with different concentrations of 2-Cl-IB-MECA prior to TNF-α stimulation, followed by analysis of NF-κB signaling pathway activation and downstream IL-8 and IL-1β production.", "output": {"entities": {"gene": [{"text": "A3AR", "start": 56, "end": 60}], "disease": [{"text": "inflammation", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Pin1 expression was elevated in human and mouse fibrotic liver tissues, and Pin1 inhibition improved dimethylnitrosamine (DMN)-induced liver fibrosis in mice.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 0, "end": 4}], "disease": [{"text": "liver fibrosis", "start": 135, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, introduction of p21waf1/cip1 to other leukemia cells such as K562 may enhance their susceptibility to SP-B.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 115, "end": 119}], "disease": [{"text": "leukemia", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Follistatin and FLRG were expressed both in normal tissue and in all the breast diseases investigated.", "output": {"entities": {"gene": [{"text": "FLRG", "start": 16, "end": 20}], "disease": [{"text": "breast diseases", "start": 73, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Molecular characterization of Clostridium perfringens isolates from humans with sporadic diarrhea: evidence for transcriptional regulation of the beta2-toxin-encoding gene.", "output": {"entities": {"gene": [{"text": "beta2", "start": 146, "end": 151}], "disease": [{"text": "diarrhea", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In this study, we sought to determine whether SP-D could be detected in murine serum and discovered that it was increased in mice bearing lung tumors.", "output": {"entities": {"gene": [{"text": "SP-D", "start": 46, "end": 50}], "disease": [{"text": "lung tumors", "start": 138, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SP-D", "start": 46, "end": 50}, "tail": {"text": "lung tumors", "start": 138, "end": 149}}]}}, "schema": []}
{"input": "There was a significant increase in the frequency of the D4DR long alleles in individuals defined as high risk using the combination of novelty-seeking-related personality traits, severe obesity (i. e., BMI > 40), and any other traditional risk factor, but not with the traditional risk factors alone.", "output": {"entities": {"gene": [{"text": "D4DR", "start": 57, "end": 61}], "disease": [{"text": "severe obesity", "start": 180, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Although the expression of almost all molecules did not differ between small (≤ 3 cm) and large HCC (> 3 cm), high IL-17 in periphery of tumor, high CD8 in center of tumor, or low CD8 in distant non-neoplastic liver was associated with high HCC recurrence rate in patients with small HCC, but not in those with large HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 96, "end": 99}], "disease": [{"text": "non-neoplastic", "start": 195, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.", "output": {"entities": {"gene": [{"text": "MEFV", "start": 17, "end": 21}], "disease": [{"text": "familial Mediterranean fever", "start": 86, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEFV", "start": 17, "end": 21}, "tail": {"text": "familial Mediterranean fever", "start": 86, "end": 114}}]}}, "schema": []}
{"input": "After excluding children with malaria parasitaemia, inflammation (CRP > 5 mg L (-1)), iron deficiency (ferritin < 12 μg L (-1)) or vitamin A deficiency (RBP < 0. 7 μg L (-1)), the prevalence of anaemia among those without α (+)-thalassaemia (43. 0%) remained significantly lower than that among children who were either heterozygotes (53. 5%) or homozygotes (67. 7%, P = 0. 03).", "output": {"entities": {"gene": [{"text": "RBP", "start": 153, "end": 156}], "disease": [{"text": "anaemia", "start": 194, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and \" Jordan' s anomaly \" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan' s anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance).", "output": {"entities": {"gene": [{"text": "PNPLA2", "start": 492, "end": 498}], "disease": [{"text": "enteropathy", "start": 257, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "In a patient with developmental delay, attention-deficit hyperactivity disorder, psychosis, Tourette' s syndrome and autistic traits, a de novo balanced t (3; 18) translocation truncated ZBTB20.", "output": {"entities": {"gene": [{"text": "ZBTB20", "start": 187, "end": 193}], "disease": [{"text": "attention-deficit hyperactivity disorder", "start": 39, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Until now the essential transcription factor that determines the epithelial phenotype of breast cancer has not been identified and its role in epithelial-to-mesenchymal transition (EMT) and tumor progression remain unclear.", "output": {"entities": {"gene": [{"text": "EMT", "start": 181, "end": 184}], "disease": [{"text": "tumor progression", "start": 190, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "This re-distribution of B7-H1 was concurrent with a similar translocation of phosphorylated AKT to the nucleus.", "output": {"entities": {"gene": [{"text": "AKT", "start": 92, "end": 95}], "disease": [{"text": "translocation", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Sustained reduction of AT1-receptor stimulation before stress prevents the hormonal and sympathoadrenal stress responses during isolation and prevents the gastric ulceration stress response to cold-restraint, indicating that increased AT1-receptor stimulation is essential to enhance the central sympathetic response and the formation and release of corticotropin-releasing factor (CRF) and arginine vasopressin that occur during stress.", "output": {"entities": {"gene": [{"text": "corticotropin-releasing factor", "start": 350, "end": 380}], "disease": [{"text": "gastric ulceration", "start": 155, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "However, levels of anticitrullinated protein antibodies are apparently also increased and were involved in the pathogenesis of autoimmune arthritis in mice with collagen-induced arthritis (CIA).", "output": {"entities": {"gene": [{"text": "CIA", "start": 189, "end": 192}], "disease": [{"text": "autoimmune arthritis", "start": 127, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Serotonin transporter polymorphisms and measures of impulsivity, aggression, and sensation seeking among African-American cocaine-dependent individuals.", "output": {"entities": {"gene": [{"text": "Serotonin transporter", "start": 0, "end": 21}], "disease": [{"text": "aggression", "start": 65, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "This study confirms a causative role of EJM1 in the pathogenesis of idiopathic generalized seizures in the majority of German families of JME patients and refines a candidate region of 10. 1 cM in the chromosomal region 6p21 between the flanking loci HLA-DQ and D6S1019.", "output": {"entities": {"gene": [{"text": "HLA-DQ", "start": 251, "end": 257}], "disease": [{"text": "generalized seizures", "start": 79, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Further studies are needed to confirm whether growth restriction in association with premature pubarche and insulin resistance is a specific manifestation of reduced IGF2 expression.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 166, "end": 170}], "disease": [{"text": "insulin resistance", "start": 108, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 43, "end": 61}], "disease": [{"text": "familial lipoprotein lipase deficiency", "start": 98, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 43, "end": 61}, "tail": {"text": "familial lipoprotein lipase deficiency", "start": 98, "end": 136}}]}}, "schema": []}
{"input": "Macrovascular diseases (MVD) in type 2 diabetes mellitus (T2DM) are often considered all together, without discriminating the areas involved.", "output": {"entities": {"gene": [{"text": "MVD", "start": 24, "end": 27}], "disease": [{"text": "type 2 diabetes mellitus", "start": 32, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "While dysregulation of miR-143-5p/3p seems to be a common feature of ALS pathology, downregulation of miR-132-5p/3p and miR-574-5p/3p was evident in sporadic, TARDBP, FUS and C9ORF72, but not SOD1 mutant patients.", "output": {"entities": {"gene": [{"text": "FUS", "start": 167, "end": 170}], "disease": [{"text": "sporadic", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Other, equally aneuploid, but non-BLC rarely displayed these X chromosome abnormalities.", "output": {"entities": {"gene": [{"text": "BLC", "start": 34, "end": 37}], "disease": [{"text": "chromosome abnormalities", "start": 63, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Twelve different mutations in seven informative and six uninformative families were found in one of the candidate genes, KIAA0027, which we renamed \" MLC1. \"", "output": {"entities": {"gene": [{"text": "MLC1", "start": 150, "end": 154}], "disease": [{"text": "KIAA0027", "start": 121, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLC1", "start": 150, "end": 154}, "tail": {"text": "KIAA0027", "start": 121, "end": 129}}]}}, "schema": []}
{"input": "Sib pair linkage analyses (n = 852 sibling pairs) using a dinucleotide repeat marker (D4S43) that maps approximately 660 kb from the alpha-adducin gene provided no evidence of linkage between this marker locus and a locus influencing systolic, diastolic, or mean blood pressure levels.", "output": {"entities": {"gene": [{"text": "alpha-adducin", "start": 133, "end": 146}], "disease": [{"text": "mean blood pressure", "start": 258, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "By using exome and capillary sequencing, we here identify biallelic UBE3B mutations in four patients from three unrelated families presenting an autosomal-recessive blepharophimosis-ptosis-intellectual-disability syndrome characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels.", "output": {"entities": {"gene": [{"text": "UBE3B", "start": 68, "end": 73}], "disease": [{"text": "blepharophimosis-ptosis-intellectual-disability syndrome", "start": 165, "end": 221}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBE3B", "start": 68, "end": 73}, "tail": {"text": "blepharophimosis-ptosis-intellectual-disability syndrome", "start": 165, "end": 221}}]}}, "schema": []}
{"input": "The absence of kinase activity seen in 32 of the families underscored the importance of Btk protein analysis as a diagnostic indicator of XLA.", "output": {"entities": {"gene": [{"text": "Btk", "start": 88, "end": 91}], "disease": [{"text": "XLA", "start": 138, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Btk", "start": 88, "end": 91}, "tail": {"text": "XLA", "start": 138, "end": 141}}]}}, "schema": []}
{"input": "In silico miR-146a targeted 4 genes of the previously described monocyte activation signature in bipolar disorder; miR-212 targeted 2 of such genes.", "output": {"entities": {"gene": [{"text": "miR-212", "start": 115, "end": 122}], "disease": [{"text": "bipolar disorder", "start": 97, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-212", "start": 115, "end": 122}, "tail": {"text": "bipolar disorder", "start": 97, "end": 113}}]}}, "schema": []}
{"input": "We found that brief, repeated electroconvulsive shock (ECS)-induced seizures (three individual seizures within 60 min) did not trigger an increase γ-H2AX immunostaining.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 149, "end": 153}], "disease": [{"text": "seizures", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Our results lend further support to the notion that besides hypoxia, inflammation via induction of VEGF through autocrine or paracrine pathways plays a key role in (re) vascularisation of the myocardium.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 99, "end": 103}], "disease": [{"text": "hypoxia", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In a subset of patients with metastatic melanoma, T lymphocytes bearing the cell-surface marker CD8 (CD8 + T cells) can cause the regression of even large tumors.", "output": {"entities": {"gene": [{"text": "CD8", "start": 96, "end": 99}], "disease": [{"text": "metastatic melanoma", "start": 29, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Downregulation of MAPK1 may be related to the significant upregulation of HTR2A and downregulation of DRD1, suggesting an interaction in the medial thalamus serotonin-dopamine pathway elicited by airway obstruction.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 74, "end": 79}], "disease": [{"text": "airway obstruction", "start": 196, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Nerve growth factor enhances Clara cell proliferation after lung injury.", "output": {"entities": {"gene": [{"text": "Nerve growth factor", "start": 0, "end": 19}], "disease": [{"text": "lung injury", "start": 60, "end": 71}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nerve growth factor", "start": 0, "end": 19}, "tail": {"text": "lung injury", "start": 60, "end": 71}}]}}, "schema": []}
{"input": "We examined the expression and localization of c-Yes in human HCC cell lines (HLE, HLF, PLC/PRF/5 and Hep 3B) by Western blotting and immunohistochemical analyses; we also examined the expression of c-Yes by immunohistochemistry and Western blotting in the tissues of various liver diseases, including 39 samples from HCC patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 62, "end": 65}], "disease": [{"text": "liver diseases", "start": 276, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.", "output": {"entities": {"gene": [{"text": "Phenylalanine hydroxylase", "start": 0, "end": 25}], "disease": [{"text": "phenylketonuria", "start": 81, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Phenylalanine hydroxylase", "start": 0, "end": 25}, "tail": {"text": "phenylketonuria", "start": 81, "end": 96}}]}}, "schema": []}
{"input": "Furthermore, elevated FGF23 and PTH levels as well as an increased axial bone mineral density score were measured.", "output": {"entities": {"gene": [{"text": "PTH", "start": 32, "end": 35}], "disease": [{"text": "bone mineral density", "start": 73, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Accumulation of CD1a + LC and GM-CSF upregulation at the border area of diabetic foot ulcer and reduction of LC concentration at the margin of venous calf ulcer compared to normal skin were observed.", "output": {"entities": {"gene": [{"text": "CD1a", "start": 16, "end": 20}], "disease": [{"text": "diabetic foot ulcer", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Screening for mutations in the neuropeptide Y Y5 receptor gene in cohorts belonging to different weight extremes.", "output": {"entities": {"gene": [{"text": "neuropeptide Y", "start": 31, "end": 45}], "disease": [{"text": "weight", "start": 97, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.", "output": {"entities": {"gene": [{"text": "MRPS23", "start": 105, "end": 111}], "disease": [{"text": "breast tumors", "start": 212, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MRPS23", "start": 105, "end": 111}, "tail": {"text": "breast tumors", "start": 212, "end": 225}}]}}, "schema": []}
{"input": "These results suggest that downregulation of ENO-1 could be utilized as a novel pharmacological approach for overcoming 4-OHT resistance in breast cancer therapy.", "output": {"entities": {"gene": [{"text": "ENO-1", "start": 45, "end": 50}], "disease": [{"text": "breast cancer", "start": 140, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ENO-1", "start": 45, "end": 50}, "tail": {"text": "breast cancer", "start": 140, "end": 153}}]}}, "schema": []}
{"input": "We studied three genes involved in blood pressure regulation (angiotensin, angiotensin II type 1 receptor, α-adducin) and two genes involved in the amyloid pathway (apolipoprotein E (APOE) and sortilin-related receptor gene (SORL1)).", "output": {"entities": {"gene": [{"text": "α-adducin", "start": 107, "end": 116}], "disease": [{"text": "amyloid", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The role of TRPM8 channels in a series of airway responses induced by cold stimuli and the molecular and biochemical pathways of TRPM8 in regulating cold-induced responses are largely unknown.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 12, "end": 17}], "disease": [{"text": "cold", "start": 70, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The characterization of underlying GALT gene lesions was performed in 55 unrelated galactosemia patients.", "output": {"entities": {"gene": [{"text": "GALT", "start": 35, "end": 39}], "disease": [{"text": "galactosemia", "start": 83, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALT", "start": 35, "end": 39}, "tail": {"text": "galactosemia", "start": 83, "end": 95}}]}}, "schema": []}
{"input": "To investigate whether this disease requires the binding of specific peptides to B27, we made a minigene construct in which a peptide from influenza nucleoprotein, NP383-391 (SRYWAIRTR), which binds B27 with high affinity, is targeted directly to the ER by the signal peptide of the adenovirus E3/gp19 protein.", "output": {"entities": {"gene": [{"text": "B27", "start": 81, "end": 84}], "disease": [{"text": "adenovirus", "start": 283, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "We screened for ATOX1 mutations in two patients with classical Menkes disease phenotypes and one individual with occipital horn syndrome who had no alterations detected in ATP7A, as well as an adult female with chronic anemia, low serum copper and evidence of mild dopamine-beta-hydroxylase deficiency and no alterations in the ATOX1 coding or splice junction sequences were found.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 172, "end": 177}], "disease": [{"text": "mild", "start": 260, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "We compared the prevalence of GSTT1 and GSTM1 deletion genotypes in 108 Arab patients with optic neuritis (ON, 26 patients), LHON-like optic neuropathy (LLON, 35 patients), sporadic bilateral optic neuropathy in children (SBON, 21 patients) and non-arteritic ischaemic optic neuropathy (NAION, 26 patients) to 120 ethnicity-matched controls.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 30, "end": 35}], "disease": [{"text": "optic neuropathy", "start": 135, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The purpose of the study was to determine the relationship between microsatellite instability (MSI), promoter methylation and protein expression of MMR genes in epithelial ovarian carcinoma (EOC).", "output": {"entities": {"gene": [{"text": "MMR", "start": 148, "end": 151}], "disease": [{"text": "microsatellite instability", "start": 67, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Thus, AAV-HGFK1 treatment represents a potential therapy for bone metastasis in breast cancer.", "output": {"entities": {"gene": [{"text": "AAV", "start": 6, "end": 9}], "disease": [{"text": "bone metastasis", "start": 61, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Certain MPZ mutations, however, cause adult onset neuropathy with minimal demyelination but pronounced axonal degeneration.", "output": {"entities": {"gene": [{"text": "MPZ", "start": 8, "end": 11}], "disease": [{"text": "axonal degeneration", "start": 103, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The higher EMMPRIN expression in OKCs suggests that it may be involved in the aggressive behavior of this type of cyst.", "output": {"entities": {"gene": [{"text": "EMMPRIN", "start": 11, "end": 18}], "disease": [{"text": "cyst", "start": 114, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The HPRTMidland mutation affects a different domain of HPRT than the HPRTFlint mutation located at 167 nt away.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 4, "end": 8}], "disease": [{"text": "HPRTMidland", "start": 4, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HPRT", "start": 4, "end": 8}, "tail": {"text": "HPRTMidland", "start": 4, "end": 15}}]}}, "schema": []}
{"input": "We now demonstrate that hypoxia-inducible factor HIF2α and prostatic acid phosphatase (PAP) are preferentially expressed in hypoxic GSCs in comparison with non-stem tumor cells and normal neural stem cells and that PAP is regulated by HIF2α.", "output": {"entities": {"gene": [{"text": "PAP", "start": 87, "end": 90}], "disease": [{"text": "hypoxic", "start": 124, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.", "output": {"entities": {"gene": [{"text": "FGF3", "start": 11, "end": 15}], "disease": [{"text": "congenital deafness with inner ear agenesis, microtia, and microdontia", "start": 36, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGF3", "start": 11, "end": 15}, "tail": {"text": "congenital deafness with inner ear agenesis, microtia, and microdontia", "start": 36, "end": 106}}]}}, "schema": []}
{"input": "These results suggest that hypoxia likely regulates cutaneous angiogenesis and microvascular permeability by two distinct mechanisms: (i) Induction of VPF/VEGF in epithelial and mesenchymal cells, including endothelial cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 155, "end": 159}], "disease": [{"text": "hypoxia", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In a community sample of 2, 327 Caucasians, we tested the hypotheses that polymorphisms in the COMT and DRD3 genes are associated with personality traits conferring vulnerability to anxiety, depression, or alcohol misuse, or with current symptoms of these; and that the association is stronger in persons who also have been exposed to stressor experiences.", "output": {"entities": {"gene": [{"text": "COMT", "start": 95, "end": 99}], "disease": [{"text": "personality traits", "start": 135, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "FGF2, the most widely characterized family member, is down-regulated in the depressed brain and plays a protective role in rodent models of affective disorders.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 0, "end": 4}], "disease": [{"text": "affective disorders", "start": 140, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF2", "start": 0, "end": 4}, "tail": {"text": "affective disorders", "start": 140, "end": 159}}]}}, "schema": []}
{"input": "Induction of proteinuria by cannabinoid receptors 1 signaling activation in CB1 transgenic mice.", "output": {"entities": {"gene": [{"text": "CB1", "start": 76, "end": 79}], "disease": [{"text": "proteinuria", "start": 13, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "We wanted to assess whether the genetic variability of the ZAC1 gene was associated with anthropometric (weight, BMI, waist-to-hip ratio) or biochemical (plasma lipid, insulin, glucose levels, blood pressure level) phenotypes.", "output": {"entities": {"gene": [{"text": "ZAC1", "start": 59, "end": 63}], "disease": [{"text": "weight", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In this series of studies, we first ask whether endogenous FGF2 expression correlates with spontaneous anxiety, a trait associated with vulnerability to severe mood disorders in humans.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 59, "end": 63}], "disease": [{"text": "mood disorders", "start": 160, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF2", "start": 59, "end": 63}, "tail": {"text": "mood disorders", "start": 160, "end": 174}}]}}, "schema": []}
{"input": "Variants in linkage disequilibrium with the late cornified envelope gene cluster deletion are associated with susceptibility to psoriatic arthritis.", "output": {"entities": {"gene": [{"text": "late cornified envelope gene cluster", "start": 44, "end": 80}], "disease": [{"text": "psoriatic arthritis", "start": 128, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Heat shock induced the expression of Hsp60 and Hsp70 but not of adhesion molecules.", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 47, "end": 52}], "disease": [{"text": "adhesion", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "VEGF-A gene expression is up-regulated in tumors under hypoxic conditions, yet it is unclear how such up-regulation will affect the efficacy of RNA interference strategies targeting VEGF-A.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 0, "end": 6}], "disease": [{"text": "hypoxic", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Expression of ETV6-NTRK in classical, cellular and mixed subtypes of congenital mesoblastic nephroma.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 14, "end": 18}], "disease": [{"text": "congenital mesoblastic nephroma", "start": 69, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ETV6", "start": 14, "end": 18}, "tail": {"text": "congenital mesoblastic nephroma", "start": 69, "end": 100}}]}}, "schema": []}
{"input": "A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia.", "output": {"entities": {"gene": [{"text": "CDP", "start": 13, "end": 16}], "disease": [{"text": "short stature", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Increasing evidence supports a link between expressions of CD4, CD25, Foxp3, and CXCL13 in thymic hyperplasia with myasthenia gravis (MG) patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 59, "end": 62}], "disease": [{"text": "myasthenia gravis", "start": 115, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The 10q25. 3-26. 1 G protein-coupled receptor gene GPR26 is epigenetically silenced in human gliomas.", "output": {"entities": {"gene": [{"text": "GPR26", "start": 51, "end": 56}], "disease": [{"text": "gliomas", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Our data provide evidence in favour of the implication of FOXL2 variants in non-syndromic POF and confirm the regulatory interaction between FOXL2 and OSR2 whose perturbation might contribute to the palpebral abnormalities observed in BPES patients.", "output": {"entities": {"gene": [{"text": "OSR2", "start": 151, "end": 155}], "disease": [{"text": "abnormalities", "start": 209, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Low doses of CDDO-Im and bortezomib overcome the cytoprotective effects of antiapoptotic proteins Bcl2 and heat shock protein-27 (Hsp27) as well as nuclear factor-kappa B (NF-kappaB)-mediated growth/survival and drug resistance.", "output": {"entities": {"gene": [{"text": "Hsp27", "start": 130, "end": 135}], "disease": [{"text": "shock", "start": 112, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Indeed, MCP-1 was expressed by invasive breast cancer cells (MDA-MB-231, BT549 and Hs578T), which do not express E-cadherin but was not produced by noninvasive breast cancer cell lines (MCF7 and T47D) expressing high level of E-cadherin.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 8, "end": 13}], "disease": [{"text": "invasive breast cancer", "start": 31, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "These data implicate AHSG in the development of vascular calcified plaque in diabetic subjects.", "output": {"entities": {"gene": [{"text": "AHSG", "start": 21, "end": 25}], "disease": [{"text": "plaque", "start": 67, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Using flanking intronic sequences as primers to amplify 12 of the 20 exons of RET from genomic DNA of 27 Hirschsprung' s disease patients, we have now identified four mutations (one frameshift and three missense) that totally disrupt or partially change the structure of the tyrosine kinase domain of the RET protein (Ret).", "output": {"entities": {"gene": [{"text": "RET", "start": 78, "end": 81}], "disease": [{"text": "Hirschsprung' s disease", "start": 105, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 78, "end": 81}, "tail": {"text": "Hirschsprung' s disease", "start": 105, "end": 128}}]}}, "schema": []}
{"input": "With the exception of MCL, which uniformly overexpresses both CB1 and CB2, the levels of cannabinoid receptors within other lymphoma entities were highly variable, ranging from 0. 1 to 224 times the expression in reactive lymph nodes.", "output": {"entities": {"gene": [{"text": "CB2", "start": 70, "end": 73}], "disease": [{"text": "lymphoma", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "2ME2 significantly reduced the expression of both HIF-1α and HIF-2α, and their downstream molecules, VEGF, LDHA and cyclin D1, rendering hypoxic HCC cells to increased sensitivity to 2ME2.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 101, "end": 105}], "disease": [{"text": "hypoxic", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Administration of a small molecule tissue factor/factor VIIa inhibitor in a non-human primate thrombosis model of venous thrombosis: effects on thrombus formation and bleeding time.", "output": {"entities": {"gene": [{"text": "tissue factor", "start": 35, "end": 48}], "disease": [{"text": "venous thrombosis", "start": 114, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tissue factor", "start": 35, "end": 48}, "tail": {"text": "venous thrombosis", "start": 114, "end": 131}}]}}, "schema": []}
{"input": "ERG examination could not be performed in these children, but extensive RPE abnormalities were not seen at this young age.", "output": {"entities": {"gene": [{"text": "ERG", "start": 0, "end": 3}], "disease": [{"text": "abnormalities", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "This study showed that the AG genotype of TNF-α-308, associated with a high production of cytokines, was significantly decreased in patients with AD, while the low-producing GG genotype, which could lead to low production of TNF-α, was over-expressed in the atopic patients.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 42, "end": 47}], "disease": [{"text": "atopic", "start": 258, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Significant evidence was obtained for linkage of IV with the associated AGL phenotype to the epidermal differentiation complex (which includes FLG) assuming either a recessive (max Lod 3. 4) or dominant (max Lod 3. 6) inheritance model.", "output": {"entities": {"gene": [{"text": "FLG", "start": 143, "end": 146}], "disease": [{"text": "epidermal differentiation complex", "start": 93, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Restoration of HIC1 function in breast cancer cells leads to a reduction in tumor growth in vivo, an effect that can be partially rescued by co-overexpression of ephrin-A1.", "output": {"entities": {"gene": [{"text": "ephrin-A1", "start": 162, "end": 171}], "disease": [{"text": "breast cancer", "start": 32, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ephrin-A1", "start": 162, "end": 171}, "tail": {"text": "breast cancer", "start": 32, "end": 45}}]}}, "schema": []}
{"input": "The genotypes of the NQO1, GSTM1, and GSTT1 genes were not associated with the development of atrophic gastritis among the H. pylori-seropositive subjects.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 21, "end": 25}], "disease": [{"text": "atrophic gastritis", "start": 94, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to determine the effects of COX inhibitors on intestinal adenomas and colonic aberrant crypt foci in this accelerated polyposis, mismatch-repair-deficient Min mouse model, in addition to a standard Min mouse model.", "output": {"entities": {"gene": [{"text": "COX", "start": 58, "end": 61}], "disease": [{"text": "aberrant crypt foci", "start": 108, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "By site-directed mutagenesis of both NFI-binding sites, we show that the most proximal NFI site is essential for B-FABP promoter activity in transiently transfected malignant glioma cells.", "output": {"entities": {"gene": [{"text": "NFI", "start": 37, "end": 40}], "disease": [{"text": "malignant glioma", "start": 165, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "The evaluation phase (stage 1, n = 2938) tested associations of albuminuria (n = 305) with six GLUT1 SNPs: rs841839, rs3768043, rs2297977, Enh2 (rs841847) XbaI (rs841853), and rs841858.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 95, "end": 100}], "disease": [{"text": "albuminuria", "start": 64, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Frameshift mutations were identified only in 6 PTP genes, of which PTPN21 show the highest mutation frequency at all in MSI-H tumors (17%).", "output": {"entities": {"gene": [{"text": "PTPN21", "start": 67, "end": 73}], "disease": [{"text": "tumors", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The combined analysis of phase II detoxification system genes: arylamine N-acetyltransferase 2 (NAT2), and glutathione S-transferases (GST) M1 and T1 was carried out in patients with minimal/mild (group I; n = 36) and moderate/severe endometriosis (group II; n = 29) and controls (n = 72) of French origin, using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 96, "end": 100}], "disease": [{"text": "mild", "start": 191, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Both HNPCC and sporadic MMR-deficient tumors invariably display high microsatellite instability (MSI-H).", "output": {"entities": {"gene": [{"text": "MMR", "start": 24, "end": 27}], "disease": [{"text": "microsatellite instability", "start": 69, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "These observations support the hypothesis that endothelin-1, via the ET (A) receptor, directly increases P (alb), possibly via nephrin loss, as well as early inflammation in the hyperglycaemic rat.", "output": {"entities": {"gene": [{"text": "nephrin", "start": 127, "end": 134}], "disease": [{"text": "inflammation", "start": 158, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "By qRT-PCR, PLSCR4 and EMX2 were significantly down-regulated in the schizophrenia suicide completers, but could not be confirmed in bipolar disorder.", "output": {"entities": {"gene": [{"text": "EMX2", "start": 23, "end": 27}], "disease": [{"text": "schizophrenia", "start": 69, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EMX2", "start": 23, "end": 27}, "tail": {"text": "schizophrenia", "start": 69, "end": 82}}]}}, "schema": []}
{"input": "PHAPI/pp32 suppresses tumorigenesis by stimulating apoptosis.", "output": {"entities": {"gene": [{"text": "PHAPI", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "T-cell acute lymphoblastic leukemia (T-ALL), unlike other ALL types, is only infrequently associated with chromosomal aberrations, but it was recently shown that most individuals with T-ALL carry activating mutations in the NOTCH1 gene.", "output": {"entities": {"gene": [{"text": "NOTCH1 gene", "start": 224, "end": 235}], "disease": [{"text": "chromosomal aberrations", "start": 106, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The two groups were compared for antral follicle count (AFC) and serum anti-Mullerian hormone (AMH) levels (the best known markers of ovarian reserve and fertility potential), ovarian response, embryo quality and pregnancy and live birth rates.", "output": {"entities": {"gene": [{"text": "AMH", "start": 95, "end": 98}], "disease": [{"text": "ovarian reserve", "start": 134, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Specifically, we used real-time reverse transcription polymerase chain reaction (PCR) and Western blotting to investigate the upregulation of 7 angiogenic factors, namely, HO-1, vascular endothelial growth factor (VEGF), hypoxia-inducible factor (HIF)-1α, HIF-2α, cyclooxygenase-2 (COX-2), interleukin-8 (IL-8), and basic fibroblast growth factor (bFGF) under hypoxic conditions in the T24 urothelial carcinoma cell line.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 214, "end": 218}], "disease": [{"text": "hypoxic", "start": 360, "end": 367}]}, "relations": {}}, "schema": []}
{"input": "Augmentation of disease risk was found for the complex genotype HM74 [A, any] + MCHR1 [T, any] + MCHR2 [C, any] which conferred an OR maximal for the combined diagnostic category of schizophrenia plus bipolar disorder (1. 70, p = 0. 003), carried by 30% of the cases.", "output": {"entities": {"gene": [{"text": "MCHR2", "start": 97, "end": 102}], "disease": [{"text": "bipolar disorder", "start": 201, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCHR2", "start": 97, "end": 102}, "tail": {"text": "bipolar disorder", "start": 201, "end": 217}}]}}, "schema": []}
{"input": "S100A1 reversed underlying Ca² ⁺ handling abnormalities basally and under β-AR stimulation shown by improved SR Ca² ⁺ handling, intracellular Ca² ⁺ transients, diastolic Ca² ⁺ overload, and diminished susceptibility to arrhythmogenic SR Ca² ⁺ leak, respectively.", "output": {"entities": {"gene": [{"text": "S100A1", "start": 0, "end": 6}], "disease": [{"text": "abnormalities", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Sleep apnoea and neuropathy severity were highly correlated; the compound muscle action potential (CMAP) amplitude of the median nerve was inversely correlated with the apnoea-hypopnoea index (r =-0. 69, p = 0. 029).", "output": {"entities": {"gene": [{"text": "CMAP", "start": 99, "end": 103}], "disease": [{"text": "neuropathy", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We herein report a Korean female with IRIDA who was compound heterozygous for two mutations in TMPRSS6: a novel missense mutation c. 1807G & gt; C (p. Gly603Arg) in the serine protease domain and a known splicing mutation c. 863 + 1G & gt; T (IVS6 + 1G & gt; T).", "output": {"entities": {"gene": [{"text": "TMPRSS6", "start": 95, "end": 102}], "disease": [{"text": "IRIDA", "start": 38, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMPRSS6", "start": 95, "end": 102}, "tail": {"text": "IRIDA", "start": 38, "end": 43}}]}}, "schema": []}
{"input": "Psychopathological symptoms, doses, and duration of treatment with risperidone, sex, skin color, body mass index (BMI), use of other psychotropic drugs, and polymorphisms of DRD2, HTR2C, CYP2D6, LEP, LEPR, MC4R, and SCARB2 genes were evaluated.", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 187, "end": 193}], "disease": [{"text": "skin color", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In all the patients, the novel variant was found in cis with the mild, less frequent, p. P482S mutation located in the exon 10 of the CYP21A2 gene.", "output": {"entities": {"gene": [{"text": "CYP21A2 gene", "start": 134, "end": 146}], "disease": [{"text": "mild", "start": 65, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant neuropathies, associated, respectively, with duplications and deletions of the same 1. 5-Mb region on 17p11. 2-p12.", "output": {"entities": {"gene": [{"text": "p12", "start": 246, "end": 249}], "disease": [{"text": "hereditary neuropathy with liability to pressure palsies", "start": 48, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) is a neuro-ophthalmologic syndrome that consists of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit.", "output": {"entities": {"gene": [{"text": "MGA", "start": 38, "end": 41}], "disease": [{"text": "3-methylglutaconic aciduria", "start": 9, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Presently, we examined the formation of the TNFR1 signalling cascade and response of ASK1 during seizure-induced neuronal death.", "output": {"entities": {"gene": [{"text": "ASK1", "start": 85, "end": 89}], "disease": [{"text": "seizure", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The RUNX1/AML1 gene is the most frequent target for chromosomal translocation in leukemia.", "output": {"entities": {"gene": [{"text": "AML1", "start": 10, "end": 14}], "disease": [{"text": "chromosomal translocation", "start": 52, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In normal individuals, hypoxia is known to induce an overexpression of VEGF, as measured in CSF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 71, "end": 75}], "disease": [{"text": "hypoxia", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Our patient is the first case of partial biotinidase deficiency associated with autism.", "output": {"entities": {"gene": [{"text": "biotinidase", "start": 41, "end": 52}], "disease": [{"text": "autism", "start": 80, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "biotinidase", "start": 41, "end": 52}, "tail": {"text": "autism", "start": 80, "end": 86}}]}}, "schema": []}
{"input": "In myocardial tissue and isolated CMs from patients with dilated cardiomyopathy, nuclear size was increased; Nucleoporin p62, cytoplasmic RanBP1, and nuclear translocation of importins (α and β) were decreased while Exportin-1 was increased.", "output": {"entities": {"gene": [{"text": "RanBP1", "start": 138, "end": 144}], "disease": [{"text": "dilated cardiomyopathy", "start": 57, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We propose that TRMT10A deficiency accounts for abnormalities in glucose homeostasis initially manifesting both ketotic and non-ketotic hypoglycaemic events with transition to diabetes in adolescence, perhaps as a consequence of accelerated β cell apoptosis.", "output": {"entities": {"gene": [{"text": "TRMT10A", "start": 16, "end": 23}], "disease": [{"text": "abnormalities", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest a role for CXCR4 and CCR4 in the formation of giant papillae.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 32, "end": 37}], "disease": [{"text": "giant", "start": 67, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Exposure to hypoxia induced only a transient increase in mRNA transcript but a prolonged elevation of HIF-1alpha protein and its immediate downstream target gene product, VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 171, "end": 175}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Whereas, in human esophageal squamous cells (TE-1 and TE-10), PAR1 and PAR2 expression was increased but PAR4 was decreased.", "output": {"entities": {"gene": [{"text": "PAR2", "start": 71, "end": 75}], "disease": [{"text": "esophageal", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "METHODS Murine glioma GL261 cells and human glioma U87 cells were included in this study.", "output": {"entities": {"gene": [{"text": "U87", "start": 51, "end": 54}], "disease": [{"text": "glioma", "start": 15, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.", "output": {"entities": {"gene": [{"text": "TUBA8", "start": 38, "end": 43}], "disease": [{"text": "polymicrogyria with optic nerve hypoplasia", "start": 55, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TUBA8", "start": 38, "end": 43}, "tail": {"text": "polymicrogyria with optic nerve hypoplasia", "start": 55, "end": 97}}]}}, "schema": []}
{"input": "Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 70, "end": 74}], "disease": [{"text": "PRS", "start": 14, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 70, "end": 74}, "tail": {"text": "PRS", "start": 14, "end": 17}}]}}, "schema": []}
{"input": "Culturing the cells under hypoxic conditions resulted in an increase in HIF-1alpha and VEGF mRNAs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 87, "end": 91}], "disease": [{"text": "hypoxic", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "CD4, IL-17, Foxp3, and CD8 mRNA in 4 regions of the resection specimens (center of the tumor, periphery of the tumor, non-neoplastic liver bordering tumor, non-neoplastic liver distant from tumor) was quantitated using real-time polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "non-neoplastic", "start": 118, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that the synergistically activated gene Plac8 is critical for pancreatic cancer growth.", "output": {"entities": {"gene": [{"text": "Plac8", "start": 54, "end": 59}], "disease": [{"text": "pancreatic cancer", "start": 76, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "HCS is caused by recessive deletions involving the SLC3A1 and PREPL genes.", "output": {"entities": {"gene": [{"text": "PREPL", "start": 62, "end": 67}], "disease": [{"text": "HCS", "start": 0, "end": 3}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PREPL", "start": 62, "end": 67}, "tail": {"text": "HCS", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Our data suggest that TWEAK acts as a pro-inflammatory cytokine in the adipose tissue and that inflammation, but not hypoxia, may be behind its up-regulation in severe obesity.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 22, "end": 27}], "disease": [{"text": "hypoxia", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Tumors were analyzed for microsatellite instability by polymerase chain reaction and/or for MMR protein expression by immunohistochemistry to determine deficient MMR (dMMR) or proficient MMR (pMMR) status.", "output": {"entities": {"gene": [{"text": "MMR", "start": 92, "end": 95}], "disease": [{"text": "microsatellite instability", "start": 25, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of endothelial nitric oxide synthase and caveolin-1 in the aorta of rats with isoproterenol-induced cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 24, "end": 57}], "disease": [{"text": "cardiac hypertrophy", "start": 121, "end": 140}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "endothelial nitric oxide synthase", "start": 24, "end": 57}, "tail": {"text": "cardiac hypertrophy", "start": 121, "end": 140}}]}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "TRMT11", "start": 33, "end": 39}], "disease": [{"text": "glioblastoma multiforme", "start": 157, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRMT11", "start": 33, "end": 39}, "tail": {"text": "glioblastoma multiforme", "start": 157, "end": 180}}]}}, "schema": []}
{"input": "The present findings provide direct evidence that B10 cells regulate imiquimod-induced skin inflammation and offer insights into regulatory B cell-based therapies for the treatment of psoriasis.", "output": {"entities": {"gene": [{"text": "B10", "start": 50, "end": 53}], "disease": [{"text": "psoriasis", "start": 184, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Evidence suggests that lead and selected genes known to modify the toxicokinetics of lead--namely, those for the vitamin D receptor (VDR) and delta-aminolevulinic acid dehydratase (ALAD)--may independently influence blood pressure and hypertension risk.", "output": {"entities": {"gene": [{"text": "VDR", "start": 133, "end": 136}], "disease": [{"text": "blood pressure", "start": 216, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Molecular mechanisms behind increased cerebral vasospasm and local inflammation in late cerebral ischemia after subarachnoid hemorrhage (SAH) are poorly elucidated.", "output": {"entities": {"gene": [{"text": "SAH", "start": 137, "end": 140}], "disease": [{"text": "inflammation", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Perception of thermal pain and the thermal grill illusion is associated with polymorphisms in the serotonin transporter gene.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 98, "end": 119}], "disease": [{"text": "illusion", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Profiling miRNA expression in human airway-infiltrating T cells revealed elevated expression of the miRNA miR-19a in asthma.", "output": {"entities": {"gene": [{"text": "19a", "start": 110, "end": 113}], "disease": [{"text": "asthma", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "To characterise the phenotype of a family with paroxysmal exercise induced dystonia (PED) and migraine and establish whether it is linked to the paroxysmal non-kinesigenic dyskinesia (PNKD) locus on chromosome 2q33-35, the familial hemiplegic migraine (FHM) locus on chromosome 19p, or the familial infantile convulsions and paroxysmal choreoathetosis (ICCA syndrome) locus on chromosome 16.", "output": {"entities": {"gene": [{"text": "PNKD", "start": 184, "end": 188}], "disease": [{"text": "convulsions", "start": 309, "end": 320}]}, "relations": {}}, "schema": []}
{"input": "Several potent inhibitors have recently been reported that may help to unravel and exploit the full potential of FASN as a target for cancer therapy in the near future.", "output": {"entities": {"gene": [{"text": "FASN", "start": 113, "end": 117}], "disease": [{"text": "cancer", "start": 134, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FASN", "start": 113, "end": 117}, "tail": {"text": "cancer", "start": 134, "end": 140}}]}}, "schema": []}
{"input": "Endemic pemphigus foliaceus (EPF) is a complex autoimmune disease characterized by the presence of antibodies against desmoglein 1, which lead to the loss of adhesion among keratinocytes (acantholysis).", "output": {"entities": {"gene": [{"text": "EPF", "start": 29, "end": 32}], "disease": [{"text": "acantholysis", "start": 188, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "The reduced and heterogeneous expression of E-cadherin in thyroid carcinomas, particularly of the papillary histotype, appears to reflect transcriptional regulation or post-transcriptional modulation rather than structural abnormalities.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 44, "end": 54}], "disease": [{"text": "abnormalities", "start": 223, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to investigate the protective effect of esculetin in attenuating streptozotocin (STZ)-induced type I diabetic nephropathy and to understand the molecular mechanism involved in it.", "output": {"entities": {"gene": [{"text": "STZ", "start": 98, "end": 101}], "disease": [{"text": "nephropathy", "start": 127, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Potential Z-DNA elements surround the breakpoints of chromosome translocation within the 5' flanking region of bcl-2 gene.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 111, "end": 121}], "disease": [{"text": "chromosome translocation", "start": 53, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "PATIENTS/SUBJECTS/METHODS: The methylation status of p16 was evaluated in 22 HCC, 17 cirrhosis, 17 chronic hepatitis, nine primary biliary cirrhosis (PBC), eight autoimmune hepatitis, seven drug induced liver disease, six fatty liver, and three normal liver tissues using methylation specific polymerase chain reaction (MSP).", "output": {"entities": {"gene": [{"text": "MSP", "start": 320, "end": 323}], "disease": [{"text": "autoimmune hepatitis", "start": 162, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Deregulated erythropoiesis in PV involves EPO hypersensitivity and apoptosis resistance of erythroid precursor cells associated with abnormally increased activation of RAS-ERK and phosphoinositide-3 kinase-AKT pathways.", "output": {"entities": {"gene": [{"text": "ERK", "start": 172, "end": 175}], "disease": [{"text": "hypersensitivity", "start": 46, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Recently, determining the MYCN status in neuroblastoma (NB) using the quantitative PCR (Q-PCR) and FISH instead of the Southern blotting (SB) has been recommended.", "output": {"entities": {"gene": [{"text": "FISH", "start": 99, "end": 103}], "disease": [{"text": "neuroblastoma", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Vernolide-A also caused a significant inhibition in the invasion of irradiated B16F-10 melanoma cells across the collagen matrix, and inhibited the radiation-induced gene expression of hypoxia-inducible transcription factor-1α (HIF-1α) and VEGF in B16F-10 cells and VEGF receptor (Flk-1) expression in human umbilical vein endothelial cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 240, "end": 244}], "disease": [{"text": "hypoxia", "start": 185, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Our studies show that GFI1B, in addition to being causally related to the gray platelet syndrome, is key to megakaryocyte and platelet development.", "output": {"entities": {"gene": [{"text": "GFI1B", "start": 22, "end": 27}], "disease": [{"text": "gray platelet syndrome", "start": 74, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFI1B", "start": 22, "end": 27}, "tail": {"text": "gray platelet syndrome", "start": 74, "end": 96}}]}}, "schema": []}
{"input": "Therefore, to generate new insights into gene-environment interactions and complex behaviour, we examined the influence of variable prenatal stress (PNS) on two mouse lines with mutations in synaptosomal-associated protein of 25 kDa (Snap-25): the blind-drunk (Bdr) point mutant and heterozygous Snap-25 knockout mice.", "output": {"entities": {"gene": [{"text": "Snap-25", "start": 234, "end": 241}], "disease": [{"text": "blind", "start": 248, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Transfection of primary human prostate tumor cells (i. e., HPCA-10a, 10b, 10c, and 10d lines) with the transforming growth factor (TGF)-beta1 gene stimulated anchorage-independent growth and promoted tumor growth, angiogenesis, and metastasis after orthotopic implantation in severe combined immunodeficiency mice.", "output": {"entities": {"gene": [{"text": "HPCA", "start": 59, "end": 63}], "disease": [{"text": "prostate tumor", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we studied the induction of Th1 (TNF-alpha, IFN-gamma, IL-1beta and IL-2), Th2 (IL-4), IL-10 cytokines and adhesion molecule sICAM-1 in the lymphocytes isolated from symptomatic and asymptomatic NCC cases by stimulating them with Taenia solium cyst fluid antigens.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 98, "end": 103}], "disease": [{"text": "asymptomatic", "start": 193, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "We describe a case of treatment-induced acute myeloid leukemia M2 after breast cancer with a rare reciprocal t (12; 12) (p13; q13) as a secondary cytogenetic abnormality in addition to the t (11; 19) (q23; p13. 1).", "output": {"entities": {"gene": [{"text": "p13", "start": 121, "end": 124}], "disease": [{"text": "breast cancer", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "In the mammary gland, the stromal extracellular matrix (ECM) undergoes dramatic changes during development and in tumorigenesis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 56, "end": 59}], "disease": [{"text": "tumorigenesis", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Expression of tissue factor in adenocarcinoma and squamous cell carcinoma of the uterine cervix: implications for immunotherapy with hI-con1, a factor VII-IgGFc chimeric protein targeting tissue factor.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 144, "end": 154}], "disease": [{"text": "adenocarcinoma", "start": 31, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "This finding was related to the p110δ-dependent translocation of exogenous CSF-1 to the nucleus-associated CSF-1Rs, correlating with a prominent role of p110δ in activation of the Rab5 GTPase, a key regulator of the endocytic trafficking.", "output": {"entities": {"gene": [{"text": "Rab5", "start": 180, "end": 184}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that miR-204 exerts its function by targeting genes involved in tumorigenesis including brain-derived neurotrophic factor (BDNF), a neurotrophin family member which is known to promote tumor angiogenesis and invasiveness.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 139, "end": 143}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The percentage of the 40th fEPSP slope over the first during the tetanus was 18-/+ 3% in APP/PS1 vs. 26-/+ 2% in WT.", "output": {"entities": {"gene": [{"text": "PS1", "start": 93, "end": 96}], "disease": [{"text": "tetanus", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.", "output": {"entities": {"gene": [{"text": "cartilage oligomeric matrix protein", "start": 42, "end": 77}], "disease": [{"text": "pseudoachondroplasia", "start": 86, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cartilage oligomeric matrix protein", "start": 42, "end": 77}, "tail": {"text": "pseudoachondroplasia", "start": 86, "end": 106}}]}}, "schema": []}
{"input": "High-level BCL2 expression is seen in most patients with chronic lymphocytic leukemia (CLL) in the absence of BCL2 chromosomal translocation.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 11, "end": 15}], "disease": [{"text": "chromosomal translocation", "start": 115, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.", "output": {"entities": {"gene": [{"text": "mucolipidin", "start": 64, "end": 75}], "disease": [{"text": "mucolipidosis type IV", "start": 138, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "mucolipidin", "start": 64, "end": 75}, "tail": {"text": "mucolipidosis type IV", "start": 138, "end": 159}}]}}, "schema": []}
{"input": "Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation.", "output": {"entities": {"gene": [{"text": "ABCC8", "start": 142, "end": 147}], "disease": [{"text": "developmental delay, epilepsy and neonatal diabetes", "start": 62, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC8", "start": 142, "end": 147}, "tail": {"text": "developmental delay, epilepsy and neonatal diabetes", "start": 62, "end": 113}}]}}, "schema": []}
{"input": "We made a quantitative immunohistochemical study of the expression of FUS in the skin from patients with sporadic ALS and controls.", "output": {"entities": {"gene": [{"text": "FUS", "start": 70, "end": 73}], "disease": [{"text": "sporadic", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "RhoC was positively expressed in 18 out of 20 metastases (90. 0%), even higher than that in primary gastric cancer tissues.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 0, "end": 4}], "disease": [{"text": "gastric cancer", "start": 100, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We have documented a novel mouse model, the STP mice, which displayed histologic presentations reminiscent to those of human chronic pancreatitis with signs of early tumorigenesis.", "output": {"entities": {"gene": [{"text": "STP", "start": 44, "end": 47}], "disease": [{"text": "chronic pancreatitis", "start": 125, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Expression of SNCG, MAP2, SDF-1 and CXCR4 in gastric adenocarcinoma and their clinical significance.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 14, "end": 18}], "disease": [{"text": "gastric adenocarcinoma", "start": 45, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The results of the study suggest participation of COX-1, COX-2 and iNOS, but not nNOS, in transmission of pain stimuli in STZ-induced diabetic hyperalgesia.", "output": {"entities": {"gene": [{"text": "COX-1", "start": 50, "end": 55}], "disease": [{"text": "hyperalgesia", "start": 143, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-1", "start": 50, "end": 55}, "tail": {"text": "hyperalgesia", "start": 143, "end": 155}}]}}, "schema": []}
{"input": "This study was carried out to investigate mammary tumorigenesis in growth hormone (GH) deficient spontaneous dwarf rats (SDR).", "output": {"entities": {"gene": [{"text": "SDR", "start": 121, "end": 124}], "disease": [{"text": "mammary tumorigenesis", "start": 42, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrated that smoking, age and VCM exposure and XRCC1 (P = 0. 03), CYP2E1 (P = 0. 04), and ALDH2 (P = 0. 08) were significantly associated with an increased SCE frequency.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 107, "end": 112}], "disease": [{"text": "smoking", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that a decreased expression of the gene encoding the 5-HTT transporter, due to \" S \" promoter polymorphism, may be associated with an increased risk for substance use disorders, particularly in the subjects with more consistent aggressiveness and impulsiveness.", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 70, "end": 75}], "disease": [{"text": "aggressiveness", "start": 245, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "We developed novel macromolecule transduction domains (MTD) which were tested for the ability to promote protein uptake by mammalian cells and tissues and used to deliver of biologically active RUNX3 into human gastric cancer cells.", "output": {"entities": {"gene": [{"text": "MTD", "start": 55, "end": 58}], "disease": [{"text": "gastric cancer", "start": 211, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Quantitative real-time polymerase chain reaction experiments revealed that reduced expression of Glo1 mRNA was observed in major depressive and bipolar disorder patients in a current depressive state, as compared with healthy control subjects.", "output": {"entities": {"gene": [{"text": "Glo1", "start": 97, "end": 101}], "disease": [{"text": "bipolar disorder", "start": 144, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Glo1", "start": 97, "end": 101}, "tail": {"text": "bipolar disorder", "start": 144, "end": 160}}]}}, "schema": []}
{"input": "Hu antigen R (HuR), a ubiquitously expressed protein, controls a range of cellular functions such as tumor progression, apoptosis, invasion, and metastasis by stabilizing the AU-rich element located at the 3'-untranslated region (UTR) of target mRNAs.", "output": {"entities": {"gene": [{"text": "UTR", "start": 230, "end": 233}], "disease": [{"text": "metastasis", "start": 145, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "FOXP2 is mutated in a severe monogenic form of speech and language impairment, segregating within a single large pedigree, and is also disrupted by a translocation in an isolated case.", "output": {"entities": {"gene": [{"text": "FOXP2", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We conclude that macrophages play a key role in early, inflammation-mediated skin tumorigenesis, with mechanistic evidence suggesting that ARG1 secretion drives tumor development by stimulating epidermal cell proliferation.", "output": {"entities": {"gene": [{"text": "ARG1", "start": 139, "end": 143}], "disease": [{"text": "tumorigenesis", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "A suggestion has been made that MBD4 (MED1) mutations may lead to an increased rate of microsatellite instability but this mechanism appears unlikely due to the nature of mutations we have found.", "output": {"entities": {"gene": [{"text": "MED1", "start": 38, "end": 42}], "disease": [{"text": "microsatellite instability", "start": 87, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The codon 37 (TGG--> TAG) beta (0)-thalassemia mutation found in a Chinese family.", "output": {"entities": {"gene": [{"text": "TAG", "start": 21, "end": 24}], "disease": [{"text": "thalassemia", "start": 35, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "This is in contrast to patients with a normal TOP2A genotype for whom similar outcome was observed in both treatment arms (RFS: HR, 0. 90; 95% CI, 0. 70 to 1. 17; OS: HR, 0. 88; 95% CI, 0. 66 to 1. 17).", "output": {"entities": {"gene": [{"text": "TOP2A", "start": 46, "end": 51}], "disease": [{"text": "arms", "start": 117, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The expression of PODXL was associated with the migratory ability of human oral squamous cell carcinoma (OSCC).", "output": {"entities": {"gene": [{"text": "PODXL", "start": 18, "end": 23}], "disease": [{"text": "squamous cell carcinoma", "start": 80, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We conclude that homozygosity for the G1514--& gt; A mutation is exclusively responsible for the adult form of Sandhoff disease in this family, and that the A619--& gt; G substitution is not a deleterious mutation but rather a common HEXB polymorphism.", "output": {"entities": {"gene": [{"text": "HEXB", "start": 234, "end": 238}], "disease": [{"text": "Sandhoff disease", "start": 111, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HEXB", "start": 234, "end": 238}, "tail": {"text": "Sandhoff disease", "start": 111, "end": 127}}]}}, "schema": []}
{"input": "Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.", "output": {"entities": {"gene": [{"text": "HGSNAT", "start": 71, "end": 77}], "disease": [{"text": "Sanfilippo syndrome type C", "start": 22, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGSNAT", "start": 71, "end": 77}, "tail": {"text": "Sanfilippo syndrome type C", "start": 22, "end": 48}}]}}, "schema": []}
{"input": "The t (14; 18) (q32; q21)/IGH-MALT1 translocation in MALT lymphomas contains templated nucleotide insertions and a major breakpoint region similar to follicular and mantle cell lymphoma.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 30, "end": 35}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the epidermal growth factor receptor gene are linked to smoking-independent, lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor gene", "start": 17, "end": 54}], "disease": [{"text": "smoking", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "bcl2 t (14: 18) translocation is the commonest chromosomal alteration observed in non-Hodgkins lymphoma (NHL).", "output": {"entities": {"gene": [{"text": "bcl2", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "CDH13 and SHP1 promoters were highly methylated (81. 36% and 86. 44%, respectively) in endometrial carcinoma, while CDH13 promoter methylation was also present in complex hyperplasia and atypical hyperplasia (51. 72% and 50. 00%, respectively).", "output": {"entities": {"gene": [{"text": "CDH13", "start": 0, "end": 5}], "disease": [{"text": "hyperplasia", "start": 171, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Omega-3 fatty acids prevent the ketamine-induced increase in acetylcholinesterase activity in an animal model of schizophrenia.", "output": {"entities": {"gene": [{"text": "acetylcholinesterase", "start": 61, "end": 81}], "disease": [{"text": "schizophrenia", "start": 113, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "acetylcholinesterase", "start": 61, "end": 81}, "tail": {"text": "schizophrenia", "start": 113, "end": 126}}]}}, "schema": []}
{"input": "To investigate the association of 21 polymorphisms within 13 genes, APOE, APOB, APOC3, CETP, LPL, PON1, MTHFR, FGB, F5, GPIIIa, SELE, ACE and AGT, with inter-individual blood pressure (BP) variation.", "output": {"entities": {"gene": [{"text": "PON1", "start": 98, "end": 102}], "disease": [{"text": "blood pressure", "start": 169, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the dystrophin gene that lead to the expression of truncated forms of the dystrophin protein cause muscular dystrophies of varying severities both in humans and in mice.", "output": {"entities": {"gene": [{"text": "dystrophin", "start": 17, "end": 27}], "disease": [{"text": "muscular dystrophies", "start": 112, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "dystrophin", "start": 17, "end": 27}, "tail": {"text": "muscular dystrophies", "start": 112, "end": 132}}]}}, "schema": []}
{"input": "GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.", "output": {"entities": {"gene": [{"text": "GPR179", "start": 0, "end": 6}], "disease": [{"text": "congenital stationary night blindness", "start": 105, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPR179", "start": 0, "end": 6}, "tail": {"text": "congenital stationary night blindness", "start": 105, "end": 142}}]}}, "schema": []}
{"input": "Here we report the first case of a family with two patients affected by Fraser syndrome due to a deletion of 64 kb (deletion 4q21. 21) and an additional novel frameshift mutation in exon 66 of the FRAS1 gene.", "output": {"entities": {"gene": [{"text": "FRAS1", "start": 197, "end": 202}], "disease": [{"text": "Fraser syndrome", "start": 72, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FRAS1", "start": 197, "end": 202}, "tail": {"text": "Fraser syndrome", "start": 72, "end": 87}}]}}, "schema": []}
{"input": "Xenograft tumors of LNCaP and PC3 were prepared and compared with human prostatic adenocarcinoma and SCNC for the expression of key signaling molecules by immunohistochemistry and Western blot analysis.", "output": {"entities": {"gene": [{"text": "PC3", "start": 30, "end": 33}], "disease": [{"text": "prostatic adenocarcinoma", "start": 72, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expressions of VEGF and its receptor Flk-1 in the border area of infarct myocardium were determined through RT-PCR.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 24, "end": 28}], "disease": [{"text": "infarct", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Northern blot and immunoblot were used to quantify mRNA and proteins for aquaporin-2 (AQP2) as well as urea transporters UT-A1, UT-A2 and UT-B1, in subzones of the renal medulla of rats with streptozotocin-induced diabetes.", "output": {"entities": {"gene": [{"text": "AQP2", "start": 86, "end": 90}], "disease": [{"text": "diabetes", "start": 214, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "This is the first family presented with nonsyndromic hearing loss caused by mutations in USH1G.", "output": {"entities": {"gene": [{"text": "USH1G", "start": 89, "end": 94}], "disease": [{"text": "nonsyndromic hearing loss", "start": 40, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "USH1G", "start": 89, "end": 94}, "tail": {"text": "nonsyndromic hearing loss", "start": 40, "end": 65}}]}}, "schema": []}
{"input": "These carriers, aged 52 and 39 years, showed distinct MCP sign, but reported no neurological symptoms.", "output": {"entities": {"gene": [{"text": "MCP", "start": 54, "end": 57}], "disease": [{"text": "neurological symptoms", "start": 80, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "4) showed linkage to the locus SPG17, which was confirmed in 16 additional families with a phenotype characteristic of dHMN or Silver syndrome.", "output": {"entities": {"gene": [{"text": "SPG17", "start": 31, "end": 36}], "disease": [{"text": "Silver syndrome", "start": 127, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPG17", "start": 31, "end": 36}, "tail": {"text": "Silver syndrome", "start": 127, "end": 142}}]}}, "schema": []}
{"input": "Recently, functional studies of the 3'-UTR of the PTH gene, encoding parathyroid hormone, have highlighted it as a potential target for pathogenic mutations in patients with parathyroid dysfunction.", "output": {"entities": {"gene": [{"text": "UTR", "start": 39, "end": 42}], "disease": [{"text": "parathyroid dysfunction", "start": 174, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "On starvation, CAPNS1 depletion is associated with a higher rate of FoxO3A dephosphorylation and translocation to the nucleus and to a sharper increase in the levels of p27Kip1 and Bim, the products of two FoxO target genes.", "output": {"entities": {"gene": [{"text": "p27Kip1", "start": 169, "end": 176}], "disease": [{"text": "translocation", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of several apoptosis-related genes (p53, fas, ratio of bax to bcl-2, GAPDH) in DS brains has been reported.", "output": {"entities": {"gene": [{"text": "GAPDH", "start": 90, "end": 95}], "disease": [{"text": "fas", "start": 62, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "IL-6 is related to the extent of left ventricular dysfunction at peak stress and to persistent LV dysfunction during recovery.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 0, "end": 4}], "disease": [{"text": "left ventricular dysfunction", "start": 33, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 0, "end": 4}, "tail": {"text": "left ventricular dysfunction", "start": 33, "end": 61}}]}}, "schema": []}
{"input": "In addition, three glioma cell lines (U87, U563, and U251N), primary cultures of human fetal astrocytes, as well as adult and fetal human brain cDNA were used.", "output": {"entities": {"gene": [{"text": "U87", "start": 38, "end": 41}], "disease": [{"text": "glioma", "start": 19, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Language features in a mother and daughter of a chromosome 7; 13 translocation involving FOXP2.", "output": {"entities": {"gene": [{"text": "FOXP2", "start": 89, "end": 94}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "EMT markers are significant indicators of the appearance of cystic lesions, tumor progression, bone destruction and endocrine functions.", "output": {"entities": {"gene": [{"text": "EMT", "start": 0, "end": 3}], "disease": [{"text": "tumor progression", "start": 76, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "After adjustment for Intergroup Rhabdomyosarcoma Study-TNM stage, tumor site, age, tumor histology, and translocation status by multivariable analysis, only myogenin retained an independent association with RFI (P = 0. 034) and OS (P = 0. 0069).", "output": {"entities": {"gene": [{"text": "RFI", "start": 207, "end": 210}], "disease": [{"text": "tumor", "start": 66, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We have found increased IL-18 and sICAM-1 levels in subjects with type 1 diabetes and their first degree relatives, who share diabetic HLA haplotypes: DRB1 * 03/DRB1 * 04 or DRB1 * 03/* 04/DQB1 * 02 independently of their autoimmune status.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 151, "end": 155}], "disease": [{"text": "autoimmune status", "start": 222, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "We performed immunohistochemical analysis of platelet-derived growth factor receptor alpha (PDGFRA), PDGFRB, JUNB and JUNC expression in formalin-fixed, paraffin-embedded specimens of 15 NSCLC brain metastases (5 ALK translocations, 3 of them involving EML4, 5 ALK amplifications, 5 without ALK aberrations).", "output": {"entities": {"gene": [{"text": "JUNB", "start": 109, "end": 113}], "disease": [{"text": "brain metastases", "start": 193, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "In this study, TIEG1 was found to induce apoptosis in TGF-beta resistant cancer cells and concurrently enhanced gemcitabine chemosensitivity.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 54, "end": 62}], "disease": [{"text": "resistant cancer", "start": 63, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "familial breast cancer", "start": 53, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 0, "end": 5}, "tail": {"text": "familial breast cancer", "start": 53, "end": 75}}]}}, "schema": []}
{"input": "Expression of VEGF in tumour cells was strongly increased in areas directly adjacent to necrotic/hypoxic regions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 14, "end": 18}], "disease": [{"text": "hypoxic", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The translocation t (14; 18) (q32; q21) occurs in 70% of follicular lymphomas and places the BCL2 proto-oncogene, normally located at 18q21, under the control of the immunoglobulin heavy chain (IgH) gene at 14q32.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 93, "end": 97}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "In this study, we performed real-time quantitative PCR on 32 pathologically confirmed glioma samples (grade I, 4 cases; grade II, 11 cases; grade III, 10 cases; and grade IV, 7 cases; according to the 2007 WHO classification system) and four glioma cell lines (A172, U251, U373, and U87).", "output": {"entities": {"gene": [{"text": "U87", "start": 283, "end": 286}], "disease": [{"text": "glioma", "start": 86, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In human hepatoma Hep3B cells, SORBS1 was partly dissociated from the insulin receptor complex and bound to c-Abl protein upon insulin stimulation.", "output": {"entities": {"gene": [{"text": "SORBS1", "start": 31, "end": 37}], "disease": [{"text": "hepatoma", "start": 9, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Examples of endocrine syndromes are classical carcinoid syndrome caused by serotonin (measured in the urine as its metabolite 5-HIAA), insulinoma syndrome caused by insulin or proinsulin, Zollinger-Ellison syndrome resulting from gastrin secretion, glucagonoma syndrome caused by glucagon, WDHA syndrome caused by vasoactive intestinal peptide, or Cushing' s syndrome resulting from ectopic production of adrenocorticotropic hormone or corticotropin-releasing hormone.", "output": {"entities": {"gene": [{"text": "adrenocorticotropic hormone", "start": 405, "end": 432}], "disease": [{"text": "glucagonoma syndrome", "start": 249, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Though the data from this pilot study had no clinical correlations we suggest that further studies are warranted on the role of this Th1 subset marker in the pathogenesis of sarcoidosis.", "output": {"entities": {"gene": [{"text": "Th1", "start": 133, "end": 136}], "disease": [{"text": "sarcoidosis", "start": 174, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31. 1 in ovarian (P = 4. 95 & #215; 10 (-4), false discovery rate (FDR) = 0. 003) and colorectal (P = 0. 01, FDR = 0. 09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0. 03, FDR = 0. 09).", "output": {"entities": {"gene": [{"text": "HOXD9", "start": 86, "end": 91}], "disease": [{"text": "colorectal tumors", "start": 250, "end": 267}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXD9", "start": 86, "end": 91}, "tail": {"text": "colorectal tumors", "start": 250, "end": 267}}]}}, "schema": []}
{"input": "Using single strand conformation polymorphism (SSCP) analysis and nucleotide sequencing we have identified COMP mutations in eight familial and isolated PSACH cases.", "output": {"entities": {"gene": [{"text": "COMP", "start": 107, "end": 111}], "disease": [{"text": "PSACH", "start": 153, "end": 158}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COMP", "start": 107, "end": 111}, "tail": {"text": "PSACH", "start": 153, "end": 158}}]}}, "schema": []}
{"input": "Previous studies have shown that tachycardia induced by intravenous injection of bromocriptine, which persisted after adrenalectomy, was mediated by central dopamine D2 receptor stimulation.", "output": {"entities": {"gene": [{"text": "dopamine D2 receptor", "start": 157, "end": 177}], "disease": [{"text": "tachycardia", "start": 33, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dopamine D2 receptor", "start": 157, "end": 177}, "tail": {"text": "tachycardia", "start": 33, "end": 44}}]}}, "schema": []}
{"input": "Our results thus indicate that the genomic instability observed in normal cells from BRCA1 and BRCA2 mutation carriers is associated with a down-regulation of nuclear BRCA1 protein accumulation in the dot like structures.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 85, "end": 90}], "disease": [{"text": "genomic instability", "start": 35, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In addition, CD161 (+) Th cells exhibited pathogenic features, including polyfunctional proinflammatory cytokine production, an ability to activate synovial fibroblasts, and to survive and persist in the inflamed and hypoxic joint.", "output": {"entities": {"gene": [{"text": "CD161", "start": 13, "end": 18}], "disease": [{"text": "hypoxic", "start": 217, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "In the other 11 families comprising 66% of cases (44/66), a new dominant SCN4A mutation in exon 24 (M1476I) was uncovered and segregated with a variable SCM phenotype.", "output": {"entities": {"gene": [{"text": "SCN4A", "start": 73, "end": 78}], "disease": [{"text": "SCM", "start": 153, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN4A", "start": 73, "end": 78}, "tail": {"text": "SCM", "start": 153, "end": 156}}]}}, "schema": []}
{"input": "In this study, the levels of Wnt3a expression were investigated in 80 HCC tissues or sera of 186 patients with chronic liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 70, "end": 73}], "disease": [{"text": "liver diseases", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The genetic status of CHST6 was determined for all members of these MCD families.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 22, "end": 27}], "disease": [{"text": "MCD", "start": 68, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 22, "end": 27}, "tail": {"text": "MCD", "start": 68, "end": 71}}]}}, "schema": []}
{"input": "Treatment with either drug produced accumulation of HIF-1alpha in vitro but strongly inhibited the production of CAIX and vascular endothelial growth factor (VEGF) under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 158, "end": 162}], "disease": [{"text": "hypoxia", "start": 170, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Altogether, these results identify Pak1 as an important factor in the initiation and progression of atherogenesis.", "output": {"entities": {"gene": [{"text": "Pak1", "start": 35, "end": 39}], "disease": [{"text": "atherogenesis", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "This familial case has the characteristic features of myosclerosis myopathy and carries a homozygous COL6A2 mutation responsible for a peculiar pattern of collagen VI defects.", "output": {"entities": {"gene": [{"text": "COL6A2", "start": 101, "end": 107}], "disease": [{"text": "myosclerosis", "start": 54, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL6A2", "start": 101, "end": 107}, "tail": {"text": "myosclerosis", "start": 54, "end": 66}}]}}, "schema": []}
{"input": "Insulin resistance in obese boys leads to up-regulation of IRS2, RSPO1, and DNAJC15 gene expressions as wells to down-regulation of IRS1 and RIPK2 genes in the blood cells versus obese patients with normal insulin sensitivity.", "output": {"entities": {"gene": [{"text": "RIPK2", "start": 141, "end": 146}], "disease": [{"text": "obese", "start": 22, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Anti-PM-Scl is one such antibody and is found in pure myositis, myositis in overlap, and systemic sclerosis (SSc).", "output": {"entities": {"gene": [{"text": "PM-Scl", "start": 5, "end": 11}], "disease": [{"text": "myositis", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The Pro12Ala polymorphism of peroxisome proliferator-activated receptor-gamma2 in diabetes patients was associated with increased waist circumference and waist to hip ratio.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor", "start": 29, "end": 71}], "disease": [{"text": "waist circumference", "start": 130, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that HCN1 protein could be a potential target for treatment of anxiety and depression disorders.", "output": {"entities": {"gene": [{"text": "HCN1", "start": 25, "end": 29}], "disease": [{"text": "depression", "start": 95, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HCN1", "start": 25, "end": 29}, "tail": {"text": "depression", "start": 95, "end": 105}}]}}, "schema": []}
{"input": "The premalignant lesion of the initially removed gonad was positive for OCT3/4, TSPY and stem cell factor in germ cells, and for FOXL2 in the stromal component (ie, granulosa cells), but not for SOX9.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 195, "end": 199}], "disease": [{"text": "premalignant lesion", "start": 4, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Blood samples were collected at 0, 2, 4, and 6 h. Insulin with glucose infusion led to the maintenance of euglycemia and a significant suppression of reactive oxygen species (ROS) generation, p47 (phox) expression, Toll-like receptor (TLR)-4, TLR-2, TLR-1, CD14, high-mobility group-B1 (HMGB1), p38 mitogen-activated protein (MAP) kinase, c-Jun NH2-terminal kinase (JNK)-1, and platelet/endothelial cell adhesion molecule expression and a fall in serum concentrations of C-reactive protein, HMGB1, and rapid upon activation T cell expressed and secreted.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 287, "end": 292}], "disease": [{"text": "fall", "start": 439, "end": 443}]}, "relations": {}}, "schema": []}
{"input": "By flow cytometry and immunoprecipitation experiments we demonstrate that NSCLC cells (A549 adenocarcinoma and DG 3 large cell carcinoma) coexpress integrin heterodimers composed of beta 1, beta 3, beta 4, and beta 5 subunits, whereas SCLC cells (AE2 and H69) express only beta 1 integrin heterodimers.", "output": {"entities": {"gene": [{"text": "AE2", "start": 247, "end": 250}], "disease": [{"text": "large cell carcinoma", "start": 116, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "CYBA (p22phox) variants associate with blood pressure and oxidative stress markers in hypertension: a replication study in populations of diverse altitudes.", "output": {"entities": {"gene": [{"text": "CYBA", "start": 0, "end": 4}], "disease": [{"text": "blood pressure", "start": 39, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined.", "output": {"entities": {"gene": [{"text": "ACG", "start": 53, "end": 56}], "disease": [{"text": "blind", "start": 42, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that imbalances in STP and release dynamics of inhibitory and excitatory synapses trigger network hyperexcitability potentially leading to epilepsy/autism manifestations.", "output": {"entities": {"gene": [{"text": "STP", "start": 37, "end": 40}], "disease": [{"text": "autism", "start": 166, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "The expression of CXCL16/CXCR6 was significantly higher in prostate cancer than in benign prostatic hypertrophy.", "output": {"entities": {"gene": [{"text": "CXCR6", "start": 25, "end": 30}], "disease": [{"text": "benign prostatic hypertrophy", "start": 83, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In this study, we attempted to determine the expression of Bmi-1 stem cell marker and of Shh pathway downstream target genes glioma-associated oncogene homolog 1 (GLI1), protein patched homolog 1 (PTCH1), Cyclin D2, plakoglobin (γ catenin), NK2 homeobox 2 (NKX2. 2), paired box gene 6 (PAX6), secreted frizzled-related protein 1 (SFRP1), and hedgehog interacting protein (HHIP) in 11 neuroblastoma cell lines and 41 neuroblastoma samples.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 286, "end": 290}], "disease": [{"text": "neuroblastoma", "start": 384, "end": 397}]}, "relations": {}}, "schema": []}
{"input": "The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 31, "end": 36}], "disease": [{"text": "Wilson disease", "start": 67, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 31, "end": 36}, "tail": {"text": "Wilson disease", "start": 67, "end": 81}}]}}, "schema": []}
{"input": "Quercetin inhibits left ventricular hypertrophy in spontaneously hypertensive rats and inhibits angiotensin II-induced H9C2 cells hypertrophy by enhancing PPAR-& #947; expression and suppressing AP-1 activity.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 96, "end": 110}], "disease": [{"text": "hypertrophy", "start": 36, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin II", "start": 96, "end": 110}, "tail": {"text": "hypertrophy", "start": 36, "end": 47}}]}}, "schema": []}
{"input": "Taken together, our data suggest that anti-VEGFa treatment in glioblastoma may inhibit neovascularization not only by VEGFa itself but also by its regulatory effect on MMP2.", "output": {"entities": {"gene": [{"text": "MMP2", "start": 168, "end": 172}], "disease": [{"text": "neovascularization", "start": 87, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the sex, gestational age, delivery mode, body weight at birth, maximal body weight loss and genotypes of G71R and (TA) (7) polymorphic mutations of UGT1A1.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 160, "end": 166}], "disease": [{"text": "body weight", "start": 53, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found that sialyltransferase7A (Siat7A), one of the members of sialyltransferase family, was significantly increased in the ischemic myocardium, as well as in the human cardiomyocyte cell line AC16 under hypoxic condition.", "output": {"entities": {"gene": [{"text": "Siat7A", "start": 50, "end": 56}], "disease": [{"text": "hypoxic", "start": 222, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "The aims of this study were to identify and report mutations in the OPA1 gene in Japanese patients with ADOA and to describe the clinical features associated with the mutations.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 68, "end": 72}], "disease": [{"text": "ADOA", "start": 104, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 68, "end": 72}, "tail": {"text": "ADOA", "start": 104, "end": 108}}]}}, "schema": []}
{"input": "Although in the pre-clinical setting, EMT has also been related to an accelerated tumor progression and to an increased resistance to conventional chemotherapy.", "output": {"entities": {"gene": [{"text": "EMT", "start": 38, "end": 41}], "disease": [{"text": "tumor progression", "start": 82, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "As to the second aim, the possible association of cathepsin B along with selected molecular markers, cathepsin L, and endogenous cysteine protease inhibitors (stefins A and B and cystatin C) with meningioma malignancy was determined using enzyme-linked immunosorbent assays in tumor homogenates.", "output": {"entities": {"gene": [{"text": "cathepsin L", "start": 101, "end": 112}], "disease": [{"text": "meningioma", "start": 196, "end": 206}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cathepsin L", "start": 101, "end": 112}, "tail": {"text": "meningioma", "start": 196, "end": 206}}]}}, "schema": []}
{"input": "We observed reduced expression of the TH1 transcription factor, T-bet, in T cells from airways of patients with asthma compared with that in T cells from airways of nonasthmatic patients, suggesting that loss of T-bet might be associated with asthma.", "output": {"entities": {"gene": [{"text": "TH1", "start": 38, "end": 41}], "disease": [{"text": "asthma", "start": 112, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The χ (2) subdivision method showed that the spontaneous YMDD mutation rate in HCC was higher than that in other liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 79, "end": 82}], "disease": [{"text": "liver diseases", "start": 113, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that the expression of OPRT and DPD are important predictors of both survival and the response to adjuvant chemotherapy in gastric cancer patients.", "output": {"entities": {"gene": [{"text": "OPRT", "start": 46, "end": 50}], "disease": [{"text": "gastric cancer", "start": 146, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPRT", "start": 46, "end": 50}, "tail": {"text": "gastric cancer", "start": 146, "end": 160}}]}}, "schema": []}
{"input": "U-box protein carboxyl terminus of Hsc70-interacting protein (CHIP) mediates poly-ubiquitylation preferentially on four-repeat Tau and is involved in neurodegeneration of tauopathy.", "output": {"entities": {"gene": [{"text": "Hsc70-interacting protein", "start": 35, "end": 60}], "disease": [{"text": "tauopathy", "start": 171, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Letm1 knock-down by a lentivirus bearing LV-Letm1-sh resulted in mitochondrial swelling and decreased expression of Letm1 target protein mitochondrially encoded cytochrome B (MT-CYB).", "output": {"entities": {"gene": [{"text": "MT-CYB", "start": 175, "end": 181}], "disease": [{"text": "mitochondrial swelling", "start": 65, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of Mps1 in colon cancer cells attenuates the spindle assembly checkpoint and increases aneuploidy.", "output": {"entities": {"gene": [{"text": "Mps1", "start": 18, "end": 22}], "disease": [{"text": "aneuploidy", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "By contrast, both RFDD and real-time PCR failed to show altered expression of the schizophrenia candidate gene disrupted in schizophrenia 1 (DISC1) BA46 from any diagnostic cohort.", "output": {"entities": {"gene": [{"text": "BA46", "start": 148, "end": 152}], "disease": [{"text": "schizophrenia 1", "start": 124, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Following injury, localized translation of RanBP1 stimulates RanGTP dissociation from importins and subsequent hydrolysis, thereby allowing binding of newly synthesized importin-beta to importin-alpha and dynein.", "output": {"entities": {"gene": [{"text": "RanBP1", "start": 43, "end": 49}], "disease": [{"text": "dissociation", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.", "output": {"entities": {"gene": [{"text": "matriptase-2", "start": 9, "end": 21}], "disease": [{"text": "IRIDA", "start": 39, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "matriptase-2", "start": 9, "end": 21}, "tail": {"text": "IRIDA", "start": 39, "end": 44}}]}}, "schema": []}
{"input": "The BDNF polymorphism was associated with atrophy of the PFC in MDD patients, which suggests that the BDNF Val66Met polymorphism may play an important role in the pathogenesis of early stages of MDD.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 4, "end": 8}], "disease": [{"text": "atrophy", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "This is due to the following: (1) PTH up-regulates c-fos expression in bone cells, (2) IGF is essential for PTH' s anabolic effect, (3) bone lining cells are driven to differentiate into osteoblasts, (4) mesenchymal stem cells adhesion to bone surface is enhanced, (5) PTH has a direct antiapoptotic effect on osteoblasts and (6) when PTH interferes with remodelling, the osteoblasts over-compensate, and (7) PTH also decreases sclerostin levels, thereby removing inhibition of Wnt signalling which is required for PTH' s anabolic actions.", "output": {"entities": {"gene": [{"text": "sclerostin", "start": 428, "end": 438}], "disease": [{"text": "adhesion", "start": 227, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Downregulation of TMEM97 through RNA interference inhibited cell proliferation and G1/S transition in two glioma cell lines, U87 and U373.", "output": {"entities": {"gene": [{"text": "U87", "start": 125, "end": 128}], "disease": [{"text": "glioma", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "To help determine whether a distal 17q gene may also be involved in the pathogenesis of primary Barrett' s esophageal and gastric cardia adenocarcinomas, we performed loss of heterozygosity (LOH) analysis of 21 Barrett' s and 18 gastric cardia adenocarcinomas at loci spanning 17q: cen-BRCA1-SSTR2-D17S2058-D17S929-D17S722-+ + + D17S937-D17S802-tel.", "output": {"entities": {"gene": [{"text": "SSTR2", "start": 292, "end": 297}], "disease": [{"text": "esophageal", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We analyzed C609T polymorphism in NQO1 gene in the group of 82 patients (56 adult and 26 children) with different type of hematopoietic malignancies and 99 healthy participants (61 adult and 38 children) using PCR and the RFLP method.", "output": {"entities": {"gene": [{"text": "NQO1 gene", "start": 34, "end": 43}], "disease": [{"text": "hematopoietic malignancies", "start": 122, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Genes of the WNT canonical pathway: activating ligands (WNT11, WNT4, WNT5A), binding inhibitors (DKK3, sFRP1), β-catenin (CTNNB1), β-catenin degradation complex (APC, AXIN1, GSK3β), inhibitor of β-catenin degradation complex (AKT1), sequester of β-catenin (CDH1), pathway effectors (TCF7, MAPK8, NFAT5), pathway mediators (DVL-1, DVL-2, DVL-3, PRICKLE, VANGL1), target genes (MYB, MYC, WISP2, SPRY1, TP53, CCND1); calcium dependent pathway (PLCB1, CAMK2A, PRKCA, CHP); and planar cell polarity pathway (PTK7, DAAM1, RHOA) were evaluated by QPCR, in 19 GH-, 18 ACTH-secreting, 21 non-secreting (NS) pituitary tumors, and 5 normal pituitaries.", "output": {"entities": {"gene": [{"text": "DAAM1", "start": 509, "end": 514}], "disease": [{"text": "pituitary tumors", "start": 598, "end": 614}]}, "relations": {}}, "schema": []}
{"input": "The studies in allergic diseases and atopy are the largest so far, and the association of NOD2/CARDI5 mutations with atopic phenotypes might be an indication that CARD15 also plays a role in the Th2 pathway.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 163, "end": 169}], "disease": [{"text": "atopic", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Surgical procedure (PH, Portal vein stenosis (PVS), bile duct ligation (BDL), spinal cord lesion (SCL)) and treatments (capsaicin, bile acids (BA), oleanolic acid (OA)) were performed on rats and/or wild type or TGR5 (GPBAR1) knock-out mice.", "output": {"entities": {"gene": [{"text": "PVS", "start": 46, "end": 49}], "disease": [{"text": "spinal cord lesion", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "When BRCA1 PARsylation is defective, it gives rise to excessive HRR and manifestations of genome instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 5, "end": 10}], "disease": [{"text": "genome instability", "start": 90, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The boy had hemophilia due to a factor VIII autoantibody and nephrotic syndrome.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 32, "end": 43}], "disease": [{"text": "nephrotic syndrome", "start": 61, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "SERPINA3K also prevented the hypoxia-induced decrease of occludin, a tight junction protein, in the OIR rat retina and in cultured retinal capillary endothelial cells and retinal pigment epithelial cells.", "output": {"entities": {"gene": [{"text": "occludin", "start": 57, "end": 65}], "disease": [{"text": "retina", "start": 108, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "occludin", "start": 57, "end": 65}, "tail": {"text": "retina", "start": 108, "end": 114}}]}}, "schema": []}
{"input": "The characterization herein of nonsense mutations is in keeping with the fact that MCD results from loss of function of the CHST6 protein product.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 124, "end": 129}], "disease": [{"text": "MCD", "start": 83, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 124, "end": 129}, "tail": {"text": "MCD", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "CONCLUSIONS: These results suggest that elevated IGF levels may define a sub-group of women with high mammographic density and limited TDLU involution, two markers that have been related to increased breast cancer risk.", "output": {"entities": {"gene": [{"text": "IGF", "start": 49, "end": 52}], "disease": [{"text": "mammographic density", "start": 102, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "RESULTS; Whole-genome sequencing revealed a novel, heterozygous 3-kilobase deletion removing exons 7-9 of TP53 in the patient' s normal skin DNA, which was homozygous in the leukemia DNA as a result of uniparental disomy.", "output": {"entities": {"gene": [{"text": "TP53", "start": 106, "end": 110}], "disease": [{"text": "uniparental disomy", "start": 202, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "New mutation of CACNA1A gene in episodic ataxia type 2.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 16, "end": 23}], "disease": [{"text": "episodic ataxia type 2", "start": 32, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 16, "end": 23}, "tail": {"text": "episodic ataxia type 2", "start": 32, "end": 54}}]}}, "schema": []}
{"input": "We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 and 12, and the GAA repeat of the frataxin gene in 124 patients apparently suffering from idiopathic sporadic ataxia, including 20 patients with the clinical diagnosis of multiple system atrophy.", "output": {"entities": {"gene": [{"text": "GAA", "start": 120, "end": 123}], "disease": [{"text": "multiple system atrophy", "start": 275, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "The maximal induction of HIF-1 in HSC-2 cells was observed 30 h after hypoxia, and VEGF mRNA was expressed after 36 h under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 83, "end": 87}], "disease": [{"text": "hypoxia", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that the ability of Ang IV to inhibit pilocarpine-induced convulsions is dependent on somatostatin receptor-2 activation, and is possibly mediated via the inhibition of IRAP resulting in an elevated concentration of somatostatin-14 in the brain.", "output": {"entities": {"gene": [{"text": "somatostatin receptor-2", "start": 105, "end": 128}], "disease": [{"text": "convulsions", "start": 77, "end": 88}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "somatostatin receptor-2", "start": 105, "end": 128}, "tail": {"text": "convulsions", "start": 77, "end": 88}}]}}, "schema": []}
{"input": "We identified a novel loss-of-function Q459R mutation in the CASR gene that exhibits mildly reduced sensitivity to calcium and that is associated with apparent autosomal recessive transmission of FHH.", "output": {"entities": {"gene": [{"text": "CASR", "start": 61, "end": 65}], "disease": [{"text": "FHH", "start": 196, "end": 199}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CASR", "start": 61, "end": 65}, "tail": {"text": "FHH", "start": 196, "end": 199}}]}}, "schema": []}
{"input": "The diagnosis is made by the presence of characteristic fundus appearance, identification of a family history, electrooculography abnormalities, and genetic testing for mutations of the BEST1 gene.", "output": {"entities": {"gene": [{"text": "BEST1 gene", "start": 186, "end": 196}], "disease": [{"text": "abnormalities", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "This may represent a novel means to treat the majority of patients with advanced melanoma, most notably those unable to receive current ACT therapies.", "output": {"entities": {"gene": [{"text": "ACT", "start": 136, "end": 139}], "disease": [{"text": "advanced melanoma", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The wild-type 5'-UTR sequence, containing a reported SNP (c.-33G > C) and a known melanoma-predisposing mutation (c.-34G > T), was included as controls.", "output": {"entities": {"gene": [{"text": "UTR", "start": 17, "end": 20}], "disease": [{"text": "melanoma", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Here, we used reverse transcription-PCR (RT-PCR) and western blot to detect protease-activated receptor (PAR) 1, PAR 2 and PAR 4 expression in cancer tissues and cell lines of esophageal squamous cell carcinoma, and investigated the co-relationship between PAR expression and clinic-pathological data for esophageal cancer.", "output": {"entities": {"gene": [{"text": "PAR", "start": 105, "end": 108}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 176, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Vitamin D supplementation to vitamin D-deficient elderly suppresses serum PTH, increases bone mineral density and may decrease fracture incidence especially in nursing home residents.", "output": {"entities": {"gene": [{"text": "PTH", "start": 74, "end": 77}], "disease": [{"text": "bone mineral density", "start": 89, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Patients carrying homozygous LMP7/TAP2 haplotype C, which contained the glutamine at LMP7 codons 145 and the isoleucine at TAP2 codons 379, were more prone to develop esophageal carcinoma (OR = 2. 96, 95% CI = 1. 13-7. 81, P = 0. 027).", "output": {"entities": {"gene": [{"text": "TAP2", "start": 34, "end": 38}], "disease": [{"text": "esophageal carcinoma", "start": 167, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "We investigated both phenotypic and genotypic aspects of apolipoprotein A-I amyloidosis unexpectedly disclosed by liver biopsy in 13 unrelated individuals with asymptomatic, persistent elevation of alkaline phosphatase and gamma-glutamyltransferase levels.", "output": {"entities": {"gene": [{"text": "apolipoprotein A-I", "start": 57, "end": 75}], "disease": [{"text": "asymptomatic", "start": 160, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "To develop a novel strategy to prevent delayed neuronal death (DND) following transient occlusion of arteries, the gene of hepatocyte growth factor (HGF), a novel neurotrophic factor, was transfected into the subarachnoid space of gerbils after transient forebrain ischemia.", "output": {"entities": {"gene": [{"text": "HGF", "start": 149, "end": 152}], "disease": [{"text": "ischemia", "start": 265, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Primary end points were flow-mediated dilation and high-sensitivity C-reactive protein (hs-CRP) levels; secondary end points were lipid and glucose parameters, homeostasis model assessment (HOMA) of insulin sensitivity, endothelial function score, and circulating levels of interleukin (IL)-6, IL-18, and adiponectin.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 294, "end": 299}], "disease": [{"text": "dilation", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene.", "output": {"entities": {"gene": [{"text": "FA2H gene", "start": 184, "end": 193}], "disease": [{"text": "childhood onset", "start": 43, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.", "output": {"entities": {"gene": [{"text": "SLC6A13", "start": 99, "end": 106}], "disease": [{"text": "major depression", "start": 51, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC6A13", "start": 99, "end": 106}, "tail": {"text": "major depression", "start": 51, "end": 67}}]}}, "schema": []}
{"input": "This study indicates that a prominent cannabinoid agonist can increase excitatory circuit activity in the synaptically reorganized dentate gyrus of mice with TLE by activating TRPV1 receptors, and suggests caution in designing anticonvulsant therapy based on modulating the endocannabinoid system.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 176, "end": 181}], "disease": [{"text": "TLE", "start": 158, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPV1", "start": 176, "end": 181}, "tail": {"text": "TLE", "start": 158, "end": 161}}]}}, "schema": []}
{"input": "Interleukin (IL)-17A and IL-17F are inflammatory cytokines expressed by a novel subset of CD4 + Th cells and play critical function in inflammation and probably in cancer.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 25, "end": 31}], "disease": [{"text": "inflammation", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, inhibition of ROS by either N-acetyl-L-cysteine (NAC), a peroxide inhibitor, or Tempol, a superoxide inhibitor, increased the annexin V-/propidium iodide (PI) + early necrotic population in TRAIL-treated cells.", "output": {"entities": {"gene": [{"text": "NAC", "start": 63, "end": 66}], "disease": [{"text": "necrotic", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "We found that the beta (2) AR arg (16)--> gly substitution and two non-coding ADCY6 polymorphisms were associated with elevated adhesion.", "output": {"entities": {"gene": [{"text": "ADCY6", "start": 78, "end": 83}], "disease": [{"text": "adhesion", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Three weeks after MSC injection, significant increases were observed in the vascular density (235. 5 ± 39. 6/mm (2) vs. 147. 4 ± 20. 3/mm (2), p < 0. 001) and the cardiac myosin-positive area (21. 7% ± 8. 4% vs. 13. 2% ± 4. 4%, p < 0. 001) of the infarct border zone.", "output": {"entities": {"gene": [{"text": "MSC", "start": 18, "end": 21}], "disease": [{"text": "infarct", "start": 247, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "The assessment in haemostasis system, fibrinogen, tissue plasminogen activator (t-PA) and its inhibitor type-1, von Willebrand factor and beta-thromboglobulin (beta-TG) levels and the changes in renin-angiotensin system (RAS), by determined angiotensin converting enzyme I (ACE) activity, in patients with essential hypertension (in relation to left ventricular hypertrophy) in comparison with normotension subjects.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 112, "end": 133}], "disease": [{"text": "essential hypertension", "start": 306, "end": 328}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis that topical (eye drop) SRPK1-selective inhibitors could be generated that reduce pro-angiogenic isoforms, and prevent choroidal neovascularization in vivo.", "output": {"entities": {"gene": [{"text": "SRPK1", "start": 49, "end": 54}], "disease": [{"text": "choroidal neovascularization", "start": 144, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the kinetics of neutrophil membrane CD64 expression were examined during a standardized inflammatory response, using a human endotoxemia model, and compared with hematological indices, CRP, cytokines and interleukins.", "output": {"entities": {"gene": [{"text": "CD64", "start": 58, "end": 62}], "disease": [{"text": "endotoxemia", "start": 147, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "miR-1202 is a primate-specific and brain-enriched microRNA involved in major depression and antidepressant treatment.", "output": {"entities": {"gene": [{"text": "miR-1202", "start": 0, "end": 8}], "disease": [{"text": "major depression", "start": 71, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-1202", "start": 0, "end": 8}, "tail": {"text": "major depression", "start": 71, "end": 87}}]}}, "schema": []}
{"input": "Analysis by FACS demonstrated a subset of cells in both cell lines reacting with VG1 and analysis of secreted VEGF (pg/ml per 1x10 (6) cells) in cell culture supernatant confirmed the normoxic production in both cell lines and significant hypoxic induction (p < 0. 005).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 110, "end": 114}], "disease": [{"text": "hypoxic", "start": 239, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that over-expression of MKP-1 could suppress neuronal death possibly through regulating JNK signaling in vitro and be a prominent neuroprotective target for the treatment of acute cerebral infarction.", "output": {"entities": {"gene": [{"text": "MKP-1", "start": 48, "end": 53}], "disease": [{"text": "cerebral infarction", "start": 204, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that hypoxia-responsive microRNA-377 directly targets VEGF in MSCs, and knockdown of endogenous microRNA-377 promotes MSC-induced angiogenesis in the infarcted myocardium.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 78, "end": 82}], "disease": [{"text": "hypoxia", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "It also leads to features associated with breast-cancer-initiating cells: increased CD24 (low)-CD44 (high) population of cells, mammosphere formation and tumorigenesis.", "output": {"entities": {"gene": [{"text": "CD24", "start": 84, "end": 88}], "disease": [{"text": "tumorigenesis", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The present study revealed a significant increase in c-Fos protein expression in the cortex and thalamus of mice showing naloxone-precipitated withdrawal syndrome.", "output": {"entities": {"gene": [{"text": "c-Fos", "start": 53, "end": 58}], "disease": [{"text": "withdrawal syndrome", "start": 143, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "c-Fos", "start": 53, "end": 58}, "tail": {"text": "withdrawal syndrome", "start": 143, "end": 162}}]}}, "schema": []}
{"input": "Eligible patients had 1st, 2nd or 3rd recurrence of glioblastoma with measurable tumor on MRI and no prior anti-angiogenic therapy.", "output": {"entities": {"gene": [{"text": "MRI", "start": 90, "end": 93}], "disease": [{"text": "glioblastoma", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In this study, we analyzed esophageal squamous cell carcinoma (ESCC) cell lines and primary ESCCs as well as normal esophageal tissues for DCC methylation by bisulfite sequencing, methylation-specific PCR (MSP) and/or quantitative methylation-specific PCR (qMSP).", "output": {"entities": {"gene": [{"text": "MSP", "start": 206, "end": 209}], "disease": [{"text": "esophageal", "start": 27, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.", "output": {"entities": {"gene": [{"text": "AMPD3", "start": 106, "end": 111}], "disease": [{"text": "erythrocyte AMP deaminase deficiency", "start": 30, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AMPD3", "start": 106, "end": 111}, "tail": {"text": "erythrocyte AMP deaminase deficiency", "start": 30, "end": 66}}]}}, "schema": []}
{"input": "HIPK2 expression was also negatively correlated with aggressiveness of basal cell carcinoma; high-risk subtypes showed lower HIPK2 expression than did low-risk subtypes (P < 0. 001).", "output": {"entities": {"gene": [{"text": "HIPK2", "start": 0, "end": 5}], "disease": [{"text": "basal cell carcinoma", "start": 71, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Many of the abnormalities seen in the Mx1-Cre mice, such as hyperkeratosis characterized by profound scaling of feet and tail, could also be detected in tamoxifen-inducible Cre mice.", "output": {"entities": {"gene": [{"text": "Mx1", "start": 38, "end": 41}], "disease": [{"text": "hyperkeratosis", "start": 60, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We also comment on the utility of small-molecule MCHR1 antagonists for the treatment of obesity and affective disorders compared to existing therapies and provide a critical overview of the potential risks.", "output": {"entities": {"gene": [{"text": "MCHR1", "start": 49, "end": 54}], "disease": [{"text": "affective disorders", "start": 100, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCHR1", "start": 49, "end": 54}, "tail": {"text": "affective disorders", "start": 100, "end": 119}}]}}, "schema": []}
{"input": "This is the first report that Tipα is a new inducer of EMT, probably associated with tumor progression in human gastric carcinogenesis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 55, "end": 58}], "disease": [{"text": "tumor progression", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to determine whether respiratory alkalosis is characteristic of patients with LS due to SURF1 mutations.", "output": {"entities": {"gene": [{"text": "SURF1", "start": 113, "end": 118}], "disease": [{"text": "respiratory alkalosis", "start": 46, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 104, "end": 109}], "disease": [{"text": "Dejerine-Sottas syndrome", "start": 28, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 104, "end": 109}, "tail": {"text": "Dejerine-Sottas syndrome", "start": 28, "end": 52}}]}}, "schema": []}
{"input": "However, when the cells were cultured under hypoxic conditions, a strong increase in VEGF mRNA could be seen in Y79 cells but not in OM431 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 85, "end": 89}], "disease": [{"text": "hypoxic", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Revisiting liver disease progression in HIV/HCV-coinfected patients: the influence of vitamin D, insulin resistance, immune status, IL28B and PNPLA3.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 142, "end": 148}], "disease": [{"text": "insulin resistance", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "To understand the contribution of the t (8; 21) to AML, we transduced purified hematopoietic stem cells (HSC) with a retroviral vector that coexpressed AML1-ETO or just the AML1 portion (AML1d) of the translocation along with a green fluorescent protein reporter gene.", "output": {"entities": {"gene": [{"text": "AML1", "start": 152, "end": 156}], "disease": [{"text": "translocation", "start": 201, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "IMPA2 is likely to be an FS susceptibility gene.", "output": {"entities": {"gene": [{"text": "IMPA2", "start": 0, "end": 5}], "disease": [{"text": "FS", "start": 25, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IMPA2", "start": 0, "end": 5}, "tail": {"text": "FS", "start": 25, "end": 27}}]}}, "schema": []}
{"input": "SRY molecules containing mutations associated with human sex reversal have altered structural interactions with DNA and failed to induce transcription of MIS.", "output": {"entities": {"gene": [{"text": "MIS", "start": 154, "end": 157}], "disease": [{"text": "sex reversal", "start": 57, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the CUL3-KLHL3 E3 ligase complex regulates blood pressure via its ability to interact with and ubiquitylate WNK isoforms.", "output": {"entities": {"gene": [{"text": "KLHL3", "start": 36, "end": 41}], "disease": [{"text": "blood pressure", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the gene expression profile of hypoxia-related genes (HIF1A, CA9, VEGF and SCL2A1) was evaluated in bone marrow samples of 113 pediatric patients.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 88, "end": 92}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Sensitivity and specificity of mean corpuscular hemoglobin (MCH): for screening alpha-thalassemia-1 trait and beta-thalassemia trait.", "output": {"entities": {"gene": [{"text": "MCH", "start": 60, "end": 63}], "disease": [{"text": "mean corpuscular hemoglobin", "start": 31, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The assessment that heterozygous SHOX mutations leading to SHOX haploinsufficiency play a role in patients with idiopathic short stature (ISS) is already documented in the literature as well as the suggestion that additional copies of SHOX are strongly implicated in a condition of tall stature.", "output": {"entities": {"gene": [{"text": "SHOX", "start": 33, "end": 37}], "disease": [{"text": "tall stature", "start": 282, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "Our findings demonstrate that FISH analysis is useful to clarify the nature of the disease in patients presenting with a B cell leukaemia in which the diagnosis is difficult by conventional methods.", "output": {"entities": {"gene": [{"text": "FISH", "start": 30, "end": 34}], "disease": [{"text": "leukaemia", "start": 128, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We studied promoter region polymorphisms in the tumor necrosis factor (TNF), interleukin (IL)-6, IL-10, and transforming growth factor (TGF)-beta1 genes in Japanese patients with multiple system atrophy (MSA) (n = 122) and normal controls (n = 277).", "output": {"entities": {"gene": [{"text": "TNF", "start": 71, "end": 74}], "disease": [{"text": "multiple system atrophy", "start": 179, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Neuropeptide Y (NPY), a 36-amino-acid neuromodulator abundantly expressed in the brain, has been implicated in the regulation of food intake and body weight.", "output": {"entities": {"gene": [{"text": "NPY", "start": 16, "end": 19}], "disease": [{"text": "body weight", "start": 145, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, elevated serum preptin and decreased osteocalcin concentrations, together with insulin resistance, are associated with obesity and overweight.", "output": {"entities": {"gene": [{"text": "preptin", "start": 30, "end": 37}], "disease": [{"text": "insulin resistance", "start": 94, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "As VEGF can substitute for M-CSF to support osteoclastogenesis in the presence of receptor activator for nuclear factor kappaB ligand (RANKL), we assessed the effect of MG-63 hypoxic conditioned media on osteoclast differentiation.", "output": {"entities": {"gene": [{"text": "M-CSF", "start": 27, "end": 32}], "disease": [{"text": "hypoxic", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "These symptoms are characteristic of idiopathic infantile hypercalcemia (IIH, MIM 143880).", "output": {"entities": {"gene": [{"text": "MIM", "start": 78, "end": 81}], "disease": [{"text": "infantile hypercalcemia", "start": 48, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.", "output": {"entities": {"gene": [{"text": "POLR1A", "start": 112, "end": 118}], "disease": [{"text": "Acrofacial Dysostosis, Cincinnati Type", "start": 0, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POLR1A", "start": 112, "end": 118}, "tail": {"text": "Acrofacial Dysostosis, Cincinnati Type", "start": 0, "end": 38}}]}}, "schema": []}
{"input": "Upright posture affects histologic changes of the cervical IVDs such as fissures of anulus fibrosus and decreased height of disc, decreased protein level of Col2a1 at nucleus pulposus and anulus fibrosus, up-regulated MMP-13, MMP-3, ADAMTS-5, and type X collagen mRNA expression, and downregulated mRNA expression of Col2a1 and aggrecan.", "output": {"entities": {"gene": [{"text": "Col2a1", "start": 157, "end": 163}], "disease": [{"text": "height", "start": 114, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Decreased infarct size and reduced fibrosis were observed in the ILK-MSC-CM group.", "output": {"entities": {"gene": [{"text": "ILK", "start": 65, "end": 68}], "disease": [{"text": "infarct", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "CYP2A6 plays a key role in nicotine metabolism and oxidative stress in astrocytes, and this has implications in nicotine-associated brain toxicity.", "output": {"entities": {"gene": [{"text": "CYP2A6", "start": 0, "end": 6}], "disease": [{"text": "brain", "start": 132, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2A6", "start": 0, "end": 6}, "tail": {"text": "brain", "start": 132, "end": 137}}]}}, "schema": []}
{"input": "Chromatin immunoprecipitation (ChIP) and re-ChIP assays revealed that hypoxia up-regulated the occupancies of Brg1 and Brm on CAM promoters in a nuclear factor κB (NF-κB)-dependent manner.", "output": {"entities": {"gene": [{"text": "Brg1", "start": 110, "end": 114}], "disease": [{"text": "hypoxia", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Proteinase-activated receptor-1 (PAR-1) and PAR-2 have been associated with increased invasiveness and metastasis in human malignancies.", "output": {"entities": {"gene": [{"text": "PAR", "start": 33, "end": 36}], "disease": [{"text": "metastasis", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "A similar effect was also observed with endogenous VEGFA induced by TGF-β1 and hypoxia.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 51, "end": 56}], "disease": [{"text": "hypoxia", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In contrast, loss-of-function mutations in humans provide strong evidence that SLC30A8 haploinsufficiency protects against T2D, suggesting ZnT8 inhibition as a therapeutic strategy in T2D prevention.", "output": {"entities": {"gene": [{"text": "SLC30A8", "start": 79, "end": 86}], "disease": [{"text": "T2D", "start": 123, "end": 126}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SLC30A8", "start": 79, "end": 86}, "tail": {"text": "T2D", "start": 123, "end": 126}}]}}, "schema": []}
{"input": "Newborn rat pups were randomly exposed to normoxia or hyperoxia at 90% FiO2 and injected intraperitoneally with placebo or Mesd every other day for 14 d. On day 15, phosphorylation of LRP5/6 (pLRP5/6), expression of Wnt/β-catenin target genes, cyclin D1 and Wnt-induced signaling protein-1 (WISP-1), right-ventricular systolic pressure (RVSP), right-ventricular hypertrophy (RVH), pulmonary vascular remodeling, alveolarization, and vascularization were measured.", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 220, "end": 229}], "disease": [{"text": "hyperoxia", "start": 54, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Body mass index, waist circumference, blood pressure, plasma total cholesterol, triglycerides, HDL cholesterol and fasting glucose were measured with standard methods, genotyping the I/D polymorphism of ACE gene.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 203, "end": 211}], "disease": [{"text": "waist circumference", "start": 17, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The results also showed that the transfection efficiency of PST/pEGFP nanoparticles into malignant melanoma A375 cell increased, and PST carrying PUMA gene induced the apoptosis of A375 cells.", "output": {"entities": {"gene": [{"text": "PST", "start": 60, "end": 63}], "disease": [{"text": "malignant melanoma", "start": 89, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "RRP22 (Ras-related protein on chromosome 22) has been suggested as a candidate tumor suppressor in human cancers.", "output": {"entities": {"gene": [{"text": "RRP22", "start": 0, "end": 5}], "disease": [{"text": "cancers", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that SE may induce impairments of astroglial AQP4 functions via disruption of the dystrophin/& #945;-syntrophin complex that worsen vasogenic edema.", "output": {"entities": {"gene": [{"text": "AQP4", "start": 68, "end": 72}], "disease": [{"text": "SE", "start": 28, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AQP4", "start": 68, "end": 72}, "tail": {"text": "SE", "start": 28, "end": 30}}]}}, "schema": []}
{"input": "Here, we describe a syndrome in which the cardinal clinical features include short stature, hearing loss, premature aging, telangiectasia, neurodegeneration, and photosensitivity, resulting from a homozygous missense (p. Ser228Ile) sequence alteration of the proliferating cell nuclear antigen (PCNA).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 295, "end": 299}], "disease": [{"text": "telangiectasia", "start": 123, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The cutaneous malignant tumor dermatofibrosarcoma protuberans (DFSP) is typically associated with a translocation between chromosomes 17 and 22 that places the platelet-derived growth factor-B (PDGFB) under the control of the collagen 1A1 promoter.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 194, "end": 199}], "disease": [{"text": "translocation", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Indeed, we observed a significant reduction of NMDA-induced field excitatory postsynaptic potential depression in the hippocampus of Tau mice together with a reduced phosphorylation of NR2B at the Y1472, known to be critical for NMDAR function.", "output": {"entities": {"gene": [{"text": "NR2B", "start": 185, "end": 189}], "disease": [{"text": "depression", "start": 100, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR2B", "start": 185, "end": 189}, "tail": {"text": "depression", "start": 100, "end": 110}}]}}, "schema": []}
{"input": "Genes showing increased expression in carcinomas by cDNA microarray analysis (and further validated by immunohistochemistry and western blot analysis) include cyclin D1, PDGF-A chain, retinol binding protein 1, prohibitin and the transcription factor STAT5A.", "output": {"entities": {"gene": [{"text": "PDGF-A chain", "start": 170, "end": 182}], "disease": [{"text": "carcinomas", "start": 38, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDGF-A chain", "start": 170, "end": 182}, "tail": {"text": "carcinomas", "start": 38, "end": 48}}]}}, "schema": []}
{"input": "RIM/DS analysis of 28 polyclonal lymphomas identified 771 common insertion sites (CISs) defining a' progression network' that encompassed a remarkably large fraction of known MoMLV target genes, with further strong indications of oncogenic selection above the background of MoMLV integration preference.", "output": {"entities": {"gene": [{"text": "RIM", "start": 0, "end": 3}], "disease": [{"text": "lymphomas", "start": 33, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "An in vitro experiment using two gastric cancer cell lines, MKN-74 and NUGC-3, showed that the expression levels of AdipoR1 and AdipoR2 were significantly decreased by transforming growth factor (TGF)-β in a dose-dependent manner.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 128, "end": 135}], "disease": [{"text": "gastric cancer", "start": 33, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We describe the analysis of the chromosome breakpoints in a patient with congenital bilateral isolated ptosis and a de novo balanced translocation 46, XY, t (1; 8) (p34. 3; q21. 12).", "output": {"entities": {"gene": [{"text": "p34", "start": 165, "end": 168}], "disease": [{"text": "ptosis", "start": 103, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Here we show that ING5 overexpression in lung cancer A549 cells inhibited cell proliferation and invasiveness, while ING5 knockdown in lung cancer H1299 cells promoted cell aggressiveness.", "output": {"entities": {"gene": [{"text": "ING5", "start": 18, "end": 22}], "disease": [{"text": "aggressiveness", "start": 173, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Previously, we demonstrated that a single bolus of E2 48 hr prior to ischemia protected the hippocampus from damage in ovariectomized rats via phosphorylation of cyclic-AMP response element binding protein, which requires activation of estrogen receptor subtype beta (ER-β).", "output": {"entities": {"gene": [{"text": "ER-β", "start": 268, "end": 272}], "disease": [{"text": "ischemia", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.", "output": {"entities": {"gene": [{"text": "prion protein", "start": 84, "end": 97}], "disease": [{"text": "Creutzfeldt-Jakob disease", "start": 21, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "prion protein", "start": 84, "end": 97}, "tail": {"text": "Creutzfeldt-Jakob disease", "start": 21, "end": 46}}]}}, "schema": []}
{"input": "This is the first report of a germ line SUFU mutation associated with GS.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 40, "end": 44}], "disease": [{"text": "GS", "start": 70, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUFU", "start": 40, "end": 44}, "tail": {"text": "GS", "start": 70, "end": 72}}]}}, "schema": []}
{"input": "We examined specimens--1 of pinguecula, 13 of pterygia (7 primary, 1 recurrent, 1 with dysplasia, and 4 primary not tested for p53), and 10 of limbal tumors (2 with actinic keratosis dysplasia, 1 with conjunctival intraepithelial neoplasia, 3 with carcinoma in situ, and 4 with squamous cell carcinoma)-expressing p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 127, "end": 130}], "disease": [{"text": "pinguecula", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD cases in the Japanese population.", "output": {"entities": {"gene": [{"text": "CFH gene", "start": 4, "end": 12}], "disease": [{"text": "dry", "start": 108, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that CST6 is robustly expressed in normal human prostate epithelium, whereas its expression is downregulated in metastatic prostate cell lines and prostate tumor tissues.", "output": {"entities": {"gene": [{"text": "CST6", "start": 19, "end": 23}], "disease": [{"text": "prostate tumor", "start": 161, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CST6", "start": 19, "end": 23}, "tail": {"text": "prostate tumor", "start": 161, "end": 175}}]}}, "schema": []}
{"input": "We detected expression of SHH, patched, GLI1, GLI2 and GLI3 in the ameloblastoma specimens and AM-1 cells.", "output": {"entities": {"gene": [{"text": "GLI3", "start": 55, "end": 59}], "disease": [{"text": "ameloblastoma", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results and the presence of kappaB sites on gene promoter of cyclin D1, MMPs and, possibly, E-cadherin suggest that VIP may act as a cytokine in an early metastatic stage of human prostate cancer through the NF-kappaB/MMPs-RECK/E-cadherin system.", "output": {"entities": {"gene": [{"text": "VIP", "start": 138, "end": 141}], "disease": [{"text": "prostate cancer", "start": 202, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VIP", "start": 138, "end": 141}, "tail": {"text": "prostate cancer", "start": 202, "end": 217}}]}}, "schema": []}
{"input": "We examined INK4A promoter methylation using circulating cell-free DNA (ccfDNA) in a total of 109 serum specimens, including 66 HCC and 43 benign chronic liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 128, "end": 131}], "disease": [{"text": "liver diseases", "start": 154, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data define a novel link between DAPK and HSF1 and highlight a positive-feedback loop in DAPK regulation under mild inflammatory stress conditions in colorectal tumors.", "output": {"entities": {"gene": [{"text": "DAPK", "start": 53, "end": 57}], "disease": [{"text": "mild", "start": 131, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "A polymorphism exon 1 variant at the locus of the scavenger receptor class B type I (SCARB1) gene is associated with differences in insulin sensitivity in healthy people during the consumption of an olive oil-rich diet.", "output": {"entities": {"gene": [{"text": "SCARB1", "start": 85, "end": 91}], "disease": [{"text": "insulin sensitivity", "start": 132, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the RER + sporadic colorectal tumors were evaluated at trinucleotide repeats within the genes for N-cadherin and B-catenin; no tumors demonstrated mutation of these genes.", "output": {"entities": {"gene": [{"text": "N-cadherin", "start": 111, "end": 121}], "disease": [{"text": "colorectal tumors", "start": 32, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we sought to determine the role of XB130 in the tumorigenesis in vivo and in related molecular mechanisms.", "output": {"entities": {"gene": [{"text": "XB130", "start": 57, "end": 62}], "disease": [{"text": "tumorigenesis", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Real-time reverse-transcriptase PCR and MSP were also performed on esophageal cancer cell lines before and after treatment with 5-aza-2'-deoxycytidine (5-Aza-dC).", "output": {"entities": {"gene": [{"text": "MSP", "start": 40, "end": 43}], "disease": [{"text": "esophageal cancer", "start": 67, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Neuroprotective actions of vitamin C related to decreased lipid peroxidation and increased catalase activity in adult rats after pilocarpine-induced seizures.", "output": {"entities": {"gene": [{"text": "catalase", "start": 91, "end": 99}], "disease": [{"text": "seizures", "start": 149, "end": 157}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 91, "end": 99}, "tail": {"text": "seizures", "start": 149, "end": 157}}]}}, "schema": []}
{"input": "We observed down-regulation of phospholemman (a phosphoprotein associated with anion channel formation) messenger RNA and protein levels in layer II/III stellate neurons in the population with schizophrenia.", "output": {"entities": {"gene": [{"text": "phospholemman", "start": 31, "end": 44}], "disease": [{"text": "schizophrenia", "start": 193, "end": 206}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "phospholemman", "start": 31, "end": 44}, "tail": {"text": "schizophrenia", "start": 193, "end": 206}}]}}, "schema": []}
{"input": "Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3) has a key role in the mitochondrial dysfunction induced by mutant huntingtin.", "output": {"entities": {"gene": [{"text": "BNip3", "start": 49, "end": 54}], "disease": [{"text": "adenovirus", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.", "output": {"entities": {"gene": [{"text": "FUS", "start": 64, "end": 67}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether polymorphisms in the genes regulating these two systems may alter susceptibility to anxiety disorders in humans, we genotyped 71 single nucleotide polymorphisms (SNPs) in CRH, CRHR1, CRHR2, AVP, AVPR1A, AVPR1B in a German sample from Munich with patients suffering from panic disorder and matched healthy controls (n = 186/n = 299).", "output": {"entities": {"gene": [{"text": "AVPR1A", "start": 218, "end": 224}], "disease": [{"text": "panic disorder", "start": 293, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we investigated the ability of bone marrow transplantation with MGMT-P140K-transduced hematopoietic cells to protect against an intensive antitumor treatment regimen of combination BG and BCNU in non-obese diabetic/severe combined immunodeficient (NOD/SCID) mice.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 86, "end": 90}], "disease": [{"text": "obese", "start": 222, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The AML1 gene, situated in 21q22, is often rearranged in acute leukemias through t (8; 21) translocation, t (12; 21) translocation, or less often t (3; 21) translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 4, "end": 8}], "disease": [{"text": "translocation", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "This fact suggests that alterations of LKB1/STK11 occur relatively early in tumorigenesis and are rarely involved in the development of carcinoma metastases.", "output": {"entities": {"gene": [{"text": "STK11", "start": 44, "end": 49}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We examined the functional properties of 12 different mutations in human MC4R that result in severe, familial, early-onset obesity.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 73, "end": 77}], "disease": [{"text": "obesity", "start": 123, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MC4R", "start": 73, "end": 77}, "tail": {"text": "obesity", "start": 123, "end": 130}}]}}, "schema": []}
{"input": "We further examined 19 HNPCC carcinomas with microsatellite instability for mutations in a (G) 7 repeat site within CDX2.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 116, "end": 120}], "disease": [{"text": "microsatellite instability", "start": 45, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The present study discovered that heat shock cognate 70 (Hsc70) is essential in both the surface translocation and the angiogenic function of NCL.", "output": {"entities": {"gene": [{"text": "Hsc70", "start": 57, "end": 62}], "disease": [{"text": "translocation", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, data from the present study demonstrated that loss of S100A2 expression contributes to gastric cancer development and progression; therefore, the determination of S100A2 expression levels may help to predict the carcinogenesis and aggressiveness of gastric cancer as well as patient survival.", "output": {"entities": {"gene": [{"text": "S100A2", "start": 69, "end": 75}], "disease": [{"text": "aggressiveness", "start": 246, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "These findings define a set of genes, FKBP10, PLOD2 and SERPINH1, that act during procollagen maturation to contribute to molecular stability and post-translational modification of type I procollagen, without which bone mass and quality are abnormal and fractures and contractures result.", "output": {"entities": {"gene": [{"text": "FKBP10", "start": 38, "end": 44}], "disease": [{"text": "bone mass", "start": 215, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "We have identified a PSACH patient carrying a novel mutation in exon 18 of COMP that composes the C-terminal globular domain.", "output": {"entities": {"gene": [{"text": "COMP", "start": 75, "end": 79}], "disease": [{"text": "PSACH", "start": 21, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COMP", "start": 75, "end": 79}, "tail": {"text": "PSACH", "start": 21, "end": 26}}]}}, "schema": []}
{"input": "Our results demonstrate that factors involving low-grade inflammation modulate MFAP5 expression and that the modified expression of MFAP5 may further regulate AT inflammation.", "output": {"entities": {"gene": [{"text": "MFAP5", "start": 79, "end": 84}], "disease": [{"text": "inflammation", "start": 57, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Knockout mice lacking the cardiac-type Jph2 die of embryonic cardiac arrest, and the mutant cardiac myocytes exhibit impaired formation of peripheral couplings and arrhythmic Ca2 + signaling caused by functional uncoupling between dihydropyridine and ryanodine receptor channels.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 175, "end": 178}], "disease": [{"text": "cardiac arrest", "start": 61, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "It has recently been shown that the t (12; 21) (p13; q22) translocation fuses two genes, TEL on chromosome 12 and AML1 on chromosome 21.", "output": {"entities": {"gene": [{"text": "AML1", "start": 114, "end": 118}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Among the several genetic abnormalities involved in MALT development, the impact of t (14; 18)-(IgH; Bcl-2) translocation has only been marginally analyzed.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 101, "end": 106}], "disease": [{"text": "translocation", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In transient transfections, a luciferase reporter construct containing a 1. 2-kb fragment of the VEGF promoter, lacking the known hypoxic-responsive element (HRE), showed up-regulation after EGF stimulation to the same degree as the full-length, 1. 5-kb VEGF promoter construct retaining the HRE.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 97, "end": 101}], "disease": [{"text": "hypoxic", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, an A to G substitution at codon 170 in exon 5 of p53 gene resulting in glutamic acid (ACG) to glycine (GCG) was detected in the DNA of her tongue cancer.", "output": {"entities": {"gene": [{"text": "ACG", "start": 105, "end": 108}], "disease": [{"text": "tongue cancer", "start": 158, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In the present study, to examine the effect of GIP on periodontitis, we induced experimental periodontitis in glucose-dependent insulinotropic polypeptide receptor-knockout mice (GIPRKO).", "output": {"entities": {"gene": [{"text": "GIP", "start": 47, "end": 50}], "disease": [{"text": "periodontitis", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Increased transglutaminase 2 and GLUT-1 expression in breast tumors not susceptible to chemoprevention with antioxidants.", "output": {"entities": {"gene": [{"text": "transglutaminase 2", "start": 10, "end": 28}], "disease": [{"text": "breast tumors", "start": 54, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transglutaminase 2", "start": 10, "end": 28}, "tail": {"text": "breast tumors", "start": 54, "end": 67}}]}}, "schema": []}
{"input": "Significant associations were detected between reduced expression of miR-143, miR-203 and low social status, and combination of smoking and heavy drinking.", "output": {"entities": {"gene": [{"text": "miR-203", "start": 78, "end": 85}], "disease": [{"text": "heavy drinking", "start": 140, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-203", "start": 78, "end": 85}, "tail": {"text": "heavy drinking", "start": 140, "end": 154}}]}}, "schema": []}
{"input": "In contrast, tumor cells with non-activated alpha (v) beta (3) depend on hypoxia for VEGF induction, resulting in reduced angiogenesis, tumor cell apoptosis, and inefficient intracranial growth.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 85, "end": 89}], "disease": [{"text": "hypoxia", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "VIIc is correlated with hyperlipidaemia and influenced by a polymorphism of the factor VII gene and could contribute to thrombotic risk in patients with renal disease.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 80, "end": 90}], "disease": [{"text": "renal disease", "start": 153, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Here we studied the expression of NKR (i. e., NKG2C, NKG2A, LILRB1, CD161) and the frequency of the NKG2C gene deletion in children with past congenital infection, both symptomatic (n = 15) and asymptomatic (n = 11), including as controls children with postnatal infection (n = 11) and noninfected (n = 20).", "output": {"entities": {"gene": [{"text": "LILRB1", "start": 60, "end": 66}], "disease": [{"text": "asymptomatic", "start": 194, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "LKB1 has now been demonstrated to play a crucial role in pulmonary tumorigenesis, controlling initiation, differentiation, and metastasis.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Moreover, rolipram significantly potentiated hyperalgesia induced by carrageenan, bradykinin, TNF alpha, IL-1 beta, IL-6 and IL-8.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 125, "end": 129}], "disease": [{"text": "hyperalgesia", "start": 45, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-8", "start": 125, "end": 129}, "tail": {"text": "hyperalgesia", "start": 45, "end": 57}}]}}, "schema": []}
{"input": "In contrast, it may actively promote tumor progression and cancer cell dissemination by inducing a gradual switch from epithelial towards mesenchymal-like cell features (EMT-like), including decreased intercellular adhesion.", "output": {"entities": {"gene": [{"text": "EMT", "start": 170, "end": 173}], "disease": [{"text": "tumor progression", "start": 37, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.", "output": {"entities": {"gene": [{"text": "SETBP1", "start": 51, "end": 57}], "disease": [{"text": "juvenile myelomonocytic leukemia", "start": 70, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SETBP1", "start": 51, "end": 57}, "tail": {"text": "juvenile myelomonocytic leukemia", "start": 70, "end": 102}}]}}, "schema": []}
{"input": "After adjustment for age, body mass index, and hsCRP level, GSTM1-null and GSTT1-null genotypes were found to be independent risk factors for the development of EAH in Slovenian patients with type 2 diabetes.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 75, "end": 80}], "disease": [{"text": "body mass index", "start": 26, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Group A streptococcus (GAS) is a leading cause of severe, invasive human infections, including necrotizing fasciitis and toxic shock syndrome.", "output": {"entities": {"gene": [{"text": "GAS", "start": 23, "end": 26}], "disease": [{"text": "toxic shock syndrome", "start": 121, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "PTPN12 promotes resistance to oxidative stress and supports tumorigenesis by regulating FOXO signaling.", "output": {"entities": {"gene": [{"text": "PTPN12", "start": 0, "end": 6}], "disease": [{"text": "tumorigenesis", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "TSA has the potential to treat corneal scarring in vivo.", "output": {"entities": {"gene": [{"text": "TSA", "start": 0, "end": 3}], "disease": [{"text": "corneal scarring", "start": 31, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Analysis of hypoxia-induced gene expression revealed that PLD2 deficiency disrupted the upregulation of hypoxia-inducible factor-1α target genes, including VEGF, PFKFB3, HMOX-1, and NTRK2.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 156, "end": 160}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Ultrastructural analysis of the RPE cells, suggests that the giant melanosomes may form by abnormal growth of single melanosomes, rather than the fusion of several, shedding light on the pathogenesis of ocular albinism.", "output": {"entities": {"gene": [{"text": "RPE", "start": 32, "end": 35}], "disease": [{"text": "giant", "start": 61, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.", "output": {"entities": {"gene": [{"text": "BCS1L", "start": 32, "end": 37}], "disease": [{"text": "Bjornstad syndrome", "start": 46, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCS1L", "start": 32, "end": 37}, "tail": {"text": "Bjornstad syndrome", "start": 46, "end": 64}}]}}, "schema": []}
{"input": "These data suggest that a simple algorithm based on patient age, height, and TNF genotype could be used to predict the individual' s risk of symptomatic neuropathy prior to prescription of d4T.", "output": {"entities": {"gene": [{"text": "TNF", "start": 77, "end": 80}], "disease": [{"text": "height", "start": 65, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We show for the first time that RPE65 normally undergoes a light-dependent translocation to become more concentrated in the central region of the RPE cells.", "output": {"entities": {"gene": [{"text": "RPE", "start": 32, "end": 35}], "disease": [{"text": "translocation", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Loss-of-function in orthologous RRAS pathway members also suppressed motor dysfunction in a Drosophila model of Huntington' s disease.", "output": {"entities": {"gene": [{"text": "RRAS", "start": 32, "end": 36}], "disease": [{"text": "motor dysfunction", "start": 69, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Thirty-five patients (23 males and 12 females), age 35 +/-13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low molecular weight proteinuria and the possible mutations occurrence in the chloride channel gene CLCN5.", "output": {"entities": {"gene": [{"text": "CLCN5", "start": 339, "end": 344}], "disease": [{"text": "calcium nephrolithiasis", "start": 101, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Importantly, while ASC deficiency did not affect normal cerebellar development, ASC knockout mice on the Smoothened (ND2: SmoA1) transgenic model of medulloblastoma exhibited a profound reduction in medulloblastoma incidence and a delayed tumor onset.", "output": {"entities": {"gene": [{"text": "ASC", "start": 19, "end": 22}], "disease": [{"text": "medulloblastoma", "start": 149, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The potent vasoconstrictor peptides, endothelin 1 (ET-1) and angiotensin II control adaptation of blood vessels to fluctuations of blood pressure.", "output": {"entities": {"gene": [{"text": "endothelin 1", "start": 37, "end": 49}], "disease": [{"text": "blood pressure", "start": 131, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The angiotensin I-converting enzyme gene insertion/deletion (I/D) polymorphism, angiotensinogen gene M235T polymorphism and angiotensin II type 1 receptor gene A1166C polymorphism were determined in 83 male Caucasian endurance athletes and associated with left ventricular mass.", "output": {"entities": {"gene": [{"text": "angiotensin I-converting enzyme", "start": 4, "end": 35}], "disease": [{"text": "left ventricular mass", "start": 256, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "Therefore we postulate that abnormal expression of MRC genes may facilitate electron \" leakage \" to promote the production of ROS and accumulation of genomic instability in LSCs in imatinib-naive and imatinib-treated patients.", "output": {"entities": {"gene": [{"text": "MRC", "start": 51, "end": 54}], "disease": [{"text": "genomic instability", "start": 150, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Adiponectin attenuates lung fibroblasts activation and pulmonary fibrosis induced by paraquat.", "output": {"entities": {"gene": [{"text": "Adiponectin", "start": 0, "end": 11}], "disease": [{"text": "pulmonary fibrosis", "start": 55, "end": 73}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Adiponectin", "start": 0, "end": 11}, "tail": {"text": "pulmonary fibrosis", "start": 55, "end": 73}}]}}, "schema": []}
{"input": "Recently, a sulfonylurea receptor (SUR) has been cloned from an islet cell tumor and identified as a member of the ATP binding cassette superfamily capable to coupling with inwardly rectifying potassium channels.", "output": {"entities": {"gene": [{"text": "SUR", "start": 35, "end": 38}], "disease": [{"text": "islet cell tumor", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy.", "output": {"entities": {"gene": [{"text": "MIM", "start": 42, "end": 45}], "disease": [{"text": "neurological disorder", "start": 65, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "MFG-E8 mRNA and protein expression was lower in ulcerative colitis patients than in controls.", "output": {"entities": {"gene": [{"text": "MFG-E8", "start": 0, "end": 6}], "disease": [{"text": "ulcerative colitis", "start": 48, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "A significant T cell response was measured in NOD/scid-DR1 mice engrafted with human cord blood cells.", "output": {"entities": {"gene": [{"text": "DR1", "start": 55, "end": 58}], "disease": [{"text": "scid", "start": 50, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The 24-h EE per kilogram of LBM for the subjects with CGL-1 falls on the same regression line observed for this relationship in the controls.", "output": {"entities": {"gene": [{"text": "CGL-1", "start": 54, "end": 59}], "disease": [{"text": "regression", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Case 3 revealed bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions with ABCA4 mutations P1380L and R2030Q.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 136, "end": 141}], "disease": [{"text": "atrophy", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Luteolin suppressed hypoxia-induced VEGF expression via attenuating hypoxia inducible factor 1 α expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxia", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that human malignant glioma cell lines express XIAP, HIAP-1 and HIAP-2 mRNA and proteins.", "output": {"entities": {"gene": [{"text": "HIAP-1", "start": 69, "end": 75}], "disease": [{"text": "malignant glioma", "start": 27, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Adrenomedullin (ADM) is an angiogenic peptide that has been shown to increase the risk of endometrial hyperplasia and to promote tumor cell survival following hypoxia.", "output": {"entities": {"gene": [{"text": "ADM", "start": 16, "end": 19}], "disease": [{"text": "hypoxia", "start": 159, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "In hypoxia conditions, stabilized hypoxia-inducible factor 1α (HIF1A) is the key regulator for transcriptional activation of VEGFA.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 125, "end": 130}], "disease": [{"text": "hypoxia", "start": 3, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we show that pontocerebellar hypoplasia type 1 together with elevated cerebrospinal fluid lactate may be caused by RARS2 mutations.", "output": {"entities": {"gene": [{"text": "RARS2", "start": 128, "end": 133}], "disease": [{"text": "pontocerebellar hypoplasia type 1", "start": 26, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RARS2", "start": 128, "end": 133}, "tail": {"text": "pontocerebellar hypoplasia type 1", "start": 26, "end": 59}}]}}, "schema": []}
{"input": "These findings advocate for the development of selective inhibitors of histone deacetylase 2 and suggest that cognitive capacities following neurodegeneration are not entirely lost, but merely impaired by this epigenetic blockade.", "output": {"entities": {"gene": [{"text": "histone deacetylase 2", "start": 71, "end": 92}], "disease": [{"text": "neurodegeneration", "start": 141, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "miR-181a is a hypoxia-regulated microRNA that is overexpressed in chondrosarcoma and enhances VEGF expression, an effect that could be inhibited by anti-miR-181a.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 94, "end": 98}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "In vivo, MCF7 cells expressing mts1 were associated with tumors exhibiting necrosis, and abundant fibrous and poorly cellular stroma.", "output": {"entities": {"gene": [{"text": "mts1", "start": 31, "end": 35}], "disease": [{"text": "necrosis", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether and how miR-20b can regulate the expression of vascular endothelial growth factor (VEGF) in MCF-7 breast cancer cells under normoxic and hypoxia-mimicking conditions (CoCl (2) exposure).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 107, "end": 111}], "disease": [{"text": "hypoxia", "start": 161, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The expression of GFRα1 and GFRα3, but not SDC3, was significantly increased in mammary carcinoma and positively associated with tumor lymph node metastases, higher clinical stage and HER-2 positivity.", "output": {"entities": {"gene": [{"text": "SDC3", "start": 43, "end": 47}], "disease": [{"text": "lymph node metastases", "start": 135, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Ultrastructurally, the same two types of neurites are found in plaques from APP (SW)/Tau (VLW) and Alzheimer disease (AD) brains: (a) dystrophic giant neurites filled with degenerating organelles and/or phospho-tau-positive filaments and (b) non-dystrophic phospho-tau-positive small punctiform neurites.", "output": {"entities": {"gene": [{"text": "APP", "start": 76, "end": 79}], "disease": [{"text": "giant", "start": 145, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Further study of the immunomodulatory effects of protein C may be warranted using mutant forms with decreased bleeding potential.", "output": {"entities": {"gene": [{"text": "protein C", "start": 49, "end": 58}], "disease": [{"text": "bleeding", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We confirmed the presence of germline mutations in both her folliculin (FLCN) and adenomatous polyposis coli (APC) genes.", "output": {"entities": {"gene": [{"text": "FLCN", "start": 72, "end": 76}], "disease": [{"text": "adenomatous polyposis coli", "start": 82, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The much lower frequency of EZH2 mutation in cases without BCL2 translocation suggests a different pattern of evolution of this subtype of follicular lymphoma.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 59, "end": 63}], "disease": [{"text": "translocation", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Mortality was associated with undetectable levels of alpha/beta interferon (IFN-α/β) in serum, ∼ 50-and ∼ 10-fold increases in levels of IFN-γ and tumor necrosis factor (TNF), respectively, increased virus replication, edema, vasculitis, hemorrhage, fever followed by hypothermia, oliguria, thrombocytopenia, and raised hematocrits.", "output": {"entities": {"gene": [{"text": "IFN", "start": 76, "end": 79}], "disease": [{"text": "hemorrhage", "start": 238, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Complicated sigmoid diverticulitis was significantly associated with high H1R and H2R expression (p < 0. 001).", "output": {"entities": {"gene": [{"text": "H1R", "start": 74, "end": 77}], "disease": [{"text": "diverticulitis", "start": 20, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Total RNA from 16 pancreatic tumors, 10 chronic pancreatitis tissues, 7 normal pancreas tissues, and 15 pancreatic tumor cell lines were analyzed by reverse transcription-PCR with primers specific for MUC1, MUC2, MUC3, MUC4, MUC5AC, MUC5B, MUC6, and MUC7 genes and by RNA slot blot analyses.", "output": {"entities": {"gene": [{"text": "MUC5B", "start": 233, "end": 238}], "disease": [{"text": "chronic pancreatitis", "start": 40, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "However, the up-regulation of adhesion and co-stimulatory molecules was associated with increased stimulatory capacity in MLC and enhanced sensitivity to NK cells.", "output": {"entities": {"gene": [{"text": "MLC", "start": 122, "end": 125}], "disease": [{"text": "adhesion", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we proved that the anti-apoptotic activity of amphiregulin, a protein that was significantly over-expressed in non-responders but undetectable in responders, leads to resistance of NSCLC cells to gefitinib in vitro.", "output": {"entities": {"gene": [{"text": "amphiregulin", "start": 56, "end": 68}], "disease": [{"text": "NSCLC", "start": 191, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "amphiregulin", "start": 56, "end": 68}, "tail": {"text": "NSCLC", "start": 191, "end": 196}}]}}, "schema": []}
{"input": "We therefore screened recessive dystrophic epidermolysis bullosa patients for COL7A1 mutations.", "output": {"entities": {"gene": [{"text": "COL7A1", "start": 78, "end": 84}], "disease": [{"text": "recessive dystrophic epidermolysis bullosa", "start": 22, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL7A1", "start": 78, "end": 84}, "tail": {"text": "recessive dystrophic epidermolysis bullosa", "start": 22, "end": 64}}]}}, "schema": []}
{"input": "The BCL-2 gene responsible for blocking of programmed cell death is highly expressed in a number of haematological malignancies, both with and without the t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "BCL-2 gene", "start": 4, "end": 14}], "disease": [{"text": "translocation", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Some of the pathways identified suggest avenues for pharmacotherapy of alcoholism with existing agents, such as angiotensin-converting enzyme (ACE) inhibitors.", "output": {"entities": {"gene": [{"text": "angiotensin-converting enzyme", "start": 112, "end": 141}], "disease": [{"text": "alcoholism", "start": 71, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin-converting enzyme", "start": 112, "end": 141}, "tail": {"text": "alcoholism", "start": 71, "end": 81}}]}}, "schema": []}
{"input": "Sputum macrophages had increased expression of KAT2B in eosinophilic compared with paucigranulocytic asthma.", "output": {"entities": {"gene": [{"text": "KAT2B", "start": 47, "end": 52}], "disease": [{"text": "asthma", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "ACE2 overexpression had no effect on insulin sensitivity in comparison with Ad-eGFP treatment in diabetic mice.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 0, "end": 4}], "disease": [{"text": "insulin sensitivity", "start": 37, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "This unique pattern of effects suggests that mesolimbic 5-HT (1B) Rs differentially modulate cocaine abuse-related behaviors, with a facilitative influence during periods of active drug use, in striking contrast to an inhibitory influence during protracted withdrawal.", "output": {"entities": {"gene": [{"text": "5-HT (1B", "start": 56, "end": 64}], "disease": [{"text": "cocaine abuse", "start": 93, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (1B", "start": 56, "end": 64}, "tail": {"text": "cocaine abuse", "start": 93, "end": 106}}]}}, "schema": []}
{"input": "Heterozygous P2Y 2 R deletion in TgCRND8 mice increased β-amyloid (Aβ) plaque load and soluble Aβ1-42 levels in the cerebral cortex and hippocampus, decreased the expression of the microglial marker CD11b in these brain regions and caused neurological deficits within 10 weeks of age, as compared to age-matched TgCRND8 mice.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 199, "end": 204}], "disease": [{"text": "plaque", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In the blood IFN-gamma expression was found in most samples, with higher level in patients with gastritis than in normals.", "output": {"entities": {"gene": [{"text": "IFN", "start": 13, "end": 16}], "disease": [{"text": "gastritis", "start": 96, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Maternal B19 infections were asymptomatic and fetal anomalies were observed during a routine ultrasound scan.", "output": {"entities": {"gene": [{"text": "B19", "start": 9, "end": 12}], "disease": [{"text": "asymptomatic", "start": 29, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "A comparative analysis of FISH, RT-PCR, and cytogenetics for the diagnosis of bcr-abl-positive leukemias.", "output": {"entities": {"gene": [{"text": "FISH", "start": 26, "end": 30}], "disease": [{"text": "leukemias", "start": 95, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Methylation-specific PCR (MSP) analysis showed that four of 13 ovarian cancer cell lines and two of 17 primary ovarian cancers had methylated SFRP1, while an immortalized ovarian epithelial cell line, HOSE, and seven ovarian endometrial cyst samples did not.", "output": {"entities": {"gene": [{"text": "MSP", "start": 26, "end": 29}], "disease": [{"text": "endometrial cyst", "start": 225, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "The patients all had a homozygous missense mutation in SCO2.", "output": {"entities": {"gene": [{"text": "SCO2", "start": 55, "end": 59}], "disease": [{"text": "all", "start": 13, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "We should consider the genetic analysis of TTC19 when we observe such characteristic MRI abnormalities.", "output": {"entities": {"gene": [{"text": "TTC19", "start": 43, "end": 48}], "disease": [{"text": "abnormalities", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Mutation status of GNAS1 exon 8 was analyzed in one hundred thirty-five formalin-fixed, paraffin-embedded (FFPE) gastrointestinal tumor samples including 45 tubular-villous adenomas, 11 tubular adenomas, 6 villousadenomas, 10 hyperplastic gastric polyps, 31 GEP-NETs and 32 colorectal adenocarcinomas by using polymerase chain reaction (PCR) and direct sequencing.", "output": {"entities": {"gene": [{"text": "GEP", "start": 258, "end": 261}], "disease": [{"text": "gastric polyps", "start": 239, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Ligation of OX40L resulted in a rapid translocation of protein kinase C beta2 to the cell membrane.", "output": {"entities": {"gene": [{"text": "OX40L", "start": 12, "end": 17}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We observed a significantly larger range of bcl2 translocation frequency (range: 0-372 x 10 (-6), median: 1. 9 x 10 (-6)) than of hprt mutation frequency (range: 0-76. 4 x 10 (-6), median: 11. 1 x 10 (-6)), which is likely the result of clonal proliferation of deathless B cell mutants.", "output": {"entities": {"gene": [{"text": "bcl2", "start": 44, "end": 48}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We performed family-based association studies of polymorphisms in metal-regulatory transcription factor 1 (MTF1), a multispecific organic anion transporter (ABCC1), proton-coupled divalent metal ion transporters (SLC11A3 and SLC11A2), paraoxonase 1 (PON1), and glutathione S-transferase (GSTP1) genes in 196 autistic disorder families.", "output": {"entities": {"gene": [{"text": "SLC11A3", "start": 213, "end": 220}], "disease": [{"text": "autistic disorder", "start": 308, "end": 325}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC11A3", "start": 213, "end": 220}, "tail": {"text": "autistic disorder", "start": 308, "end": 325}}]}}, "schema": []}
{"input": "The multiplex PCR with array detection method detected the IGH @-BCL2 translocation in 26 of 36 FFPE follicular lymphoma specimens, whereas the BIOMED-2 assay detected 13 of 36 specimens.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 65, "end": 69}], "disease": [{"text": "translocation", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In both arms, median OS was shortest in patients with HS > 55 and intratumor CD8-positive T-cell counts > 300 (9. 6 and 11. 9 months with pazopanib and sunitinib, respectively).", "output": {"entities": {"gene": [{"text": "CD8", "start": 77, "end": 80}], "disease": [{"text": "arms", "start": 8, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "We genotyped all family members for microsatellite markers at the IBGC1 locus and polymorphisms of the ApoE, VLDL, alpha1-ACT, BChE-K, APP, PS1, PS2 and tau genes and tested these for linkage to IBGC, dementia and bipolar disorder.", "output": {"entities": {"gene": [{"text": "APP", "start": 135, "end": 138}], "disease": [{"text": "bipolar disorder", "start": 214, "end": 230}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APP", "start": 135, "end": 138}, "tail": {"text": "bipolar disorder", "start": 214, "end": 230}}]}}, "schema": []}
{"input": "To this end, epidermal scale or callus, nail and hair samples from a patient with TGM1-deficient CIE, his asymptomatic family members and control subjects were extracted vigorously in sodium dodecyl sulfate and dithiothreitol and examined by light (phase contrast) and electron microscopy.", "output": {"entities": {"gene": [{"text": "TGM1", "start": 82, "end": 86}], "disease": [{"text": "asymptomatic", "start": 106, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "A 13-year-old male patient diagnosed with cblC disease during a perinatal metabolic screening prompted by jaundice and hypotony underwent ophthalmic examinations, electroretinography (ERG) and spectral domain optical coherence tomography (SD-OCT).", "output": {"entities": {"gene": [{"text": "ERG", "start": 184, "end": 187}], "disease": [{"text": "jaundice", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Gene mapping studies assign L-myc to human chromosome region 1p32, a location distinct from that of either c-myc or N-myc but associated with cytogenetic abnormalities in certain human tumours.", "output": {"entities": {"gene": [{"text": "c-myc", "start": 107, "end": 112}], "disease": [{"text": "cytogenetic abnormalities", "start": 142, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "In an attempt to elucidate the relationship between biomarkers of tumor hypoxia, glycolysis and angiogenesis, we tested the hypothesis that intratumoral gene expression of the hypoxia response (hypoxia inducible factor [HIF1 alpha and 2 alpha]), glycolysis (lactate dehydrogenase A [LDHA]), glucose metabolism (glucose transporter-1 [Glut-1]) and genes involved in angiogenesis (i. e., VEGFA, VEGFR1-3, and neuropilin [NRP] 1) are upregulated in metastatic colorectal cancer (mCRC) patients with high serum lactate dehydrogenase (LDH).", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 386, "end": 391}], "disease": [{"text": "hypoxia", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.", "output": {"entities": {"gene": [{"text": "RET", "start": 28, "end": 31}], "disease": [{"text": "Hirschsprung disease", "start": 105, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 28, "end": 31}, "tail": {"text": "Hirschsprung disease", "start": 105, "end": 125}}]}}, "schema": []}
{"input": "However, previously, only the regulation of E-cadherin mediated adhesion through EGFR has been described and activation of EGFR was implicated in loss of cell adhesion, and increased cell migration and invasion.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 81, "end": 85}], "disease": [{"text": "adhesion", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In a transgenic mouse model of chronic anemia caused by insufficient Epo production, Gas6 synergized with Epo in restoring hematocrit levels.", "output": {"entities": {"gene": [{"text": "Gas6", "start": 85, "end": 89}], "disease": [{"text": "chronic anemia", "start": 31, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Overall, each gene was associated with at least one main outcome: anxiety (SAT1, SMS), mood disorders (SAT1, SMOX), and suicide attempts (SAT1, OATL1).", "output": {"entities": {"gene": [{"text": "SMOX", "start": 109, "end": 113}], "disease": [{"text": "mood disorders", "start": 87, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMOX", "start": 109, "end": 113}, "tail": {"text": "mood disorders", "start": 87, "end": 101}}]}}, "schema": []}
{"input": "The t (X; 18) (p11. 2; q11. 2) chromosomal translocation commonly found in synovial sarcomas fuses the SYT gene on chromosome 18 to either of two similar genes, SSX1 or SSX2, on the X chromosome.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 169, "end": 173}], "disease": [{"text": "chromosomal translocation", "start": 31, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "BCL2 expression has also been found previously in about 10 to 20% of BL cases, and BCL2 translocation is a major mechanism for the deregulation of BCL2 expression in non-Hodgkin lymphomas.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Thus, we tested the hypothesis that decreased activation of the pulmonary AhR augments hyperoxia-induced alveolar simplification and lung inflammation in newborn mice.", "output": {"entities": {"gene": [{"text": "AhR", "start": 74, "end": 77}], "disease": [{"text": "lung inflammation", "start": 133, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AhR", "start": 74, "end": 77}, "tail": {"text": "lung inflammation", "start": 133, "end": 150}}]}}, "schema": []}
{"input": "SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures.", "output": {"entities": {"gene": [{"text": "SLC34A2", "start": 0, "end": 7}], "disease": [{"text": "alveolar microlithiasis", "start": 35, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC34A2", "start": 0, "end": 7}, "tail": {"text": "alveolar microlithiasis", "start": 35, "end": 58}}]}}, "schema": []}
{"input": "Furthermore, 128 biopsies from 16 advanced achalasic patients were prospectively collected and evaluated for grades of inflammation, hyperplasia, dysplasia and also for p53 and PCNA proteins.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 177, "end": 181}], "disease": [{"text": "hyperplasia", "start": 133, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Susceptibility to pemphigus vulgaris (PV), an autoimmune disease of the skin, is linked to a rare subtype of HLA-DR4 (DRB1 * 0402, 1 of 22 known DR4 subtypes).", "output": {"entities": {"gene": [{"text": "DR4", "start": 113, "end": 116}], "disease": [{"text": "pemphigus vulgaris", "start": 18, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel.", "output": {"entities": {"gene": [{"text": "ATP2A2", "start": 53, "end": 59}], "disease": [{"text": "DD", "start": 94, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2A2", "start": 53, "end": 59}, "tail": {"text": "DD", "start": 94, "end": 96}}]}}, "schema": []}
{"input": "Two novel mutations (HBG1: c.-250C & gt; T and HBG2: c.-250C & gt; T) associated with hereditary persistence of fetal hemoglobin.", "output": {"entities": {"gene": [{"text": "HBG2", "start": 47, "end": 51}], "disease": [{"text": "hereditary persistence of fetal hemoglobin", "start": 86, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HBG2", "start": 47, "end": 51}, "tail": {"text": "hereditary persistence of fetal hemoglobin", "start": 86, "end": 128}}]}}, "schema": []}
{"input": "Hydrolethalus syndrome is inherited in an autosomal recessive manner and is caused by a missense mutation in the HYLS1 gene.", "output": {"entities": {"gene": [{"text": "HYLS1", "start": 113, "end": 118}], "disease": [{"text": "Hydrolethalus syndrome", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HYLS1", "start": 113, "end": 118}, "tail": {"text": "Hydrolethalus syndrome", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "The present study sheds light on a novel function of MMP13 during BM-dependent choroidal vascularization and provides evidence for a role for MSC in the pathogenesis of CNV.", "output": {"entities": {"gene": [{"text": "MSC", "start": 142, "end": 145}], "disease": [{"text": "vascularization", "start": 89, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In our series, cases of CEH-A with SM and beta-catenin alterations appeared to have a less aggressive behavior when compared with CEH-A without SM and with K-ras and PTEN mutations.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 166, "end": 170}], "disease": [{"text": "aggressive behavior", "start": 91, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "However, cell activity was significantly reduced and HTRA1 induced loss of disc height that positively correlated with changes in GAG/DNA content.", "output": {"entities": {"gene": [{"text": "HTRA1", "start": 53, "end": 58}], "disease": [{"text": "height", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Knockout or overexpression of the CatB gene reduced or increased, respectively, pGlu-Aβ (3-40/42), flAβ (1-40/42), and pGlu-Aβ plaque load, but knockout of the BACE1 gene had no effect on those parameters in the transgenic mice.", "output": {"entities": {"gene": [{"text": "CatB", "start": 34, "end": 38}], "disease": [{"text": "plaque", "start": 127, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The event-free survival (EFS) was worse in Ewing sarcoma patients with p16INK4 and p14ARF mutation/deletion than in those without the mutation/deletion (P = 0. 019), and EFS was worse in osteosarcoma patients with TP53 alterations than in those without TP53 alterations (P = 0. 048).", "output": {"entities": {"gene": [{"text": "EFS", "start": 25, "end": 28}], "disease": [{"text": "sarcoma", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Three of the genes, QPCT, CYP1B1, and LXN, are densely methylated in & gt; 95% of uncultured melanoma tumor samples.", "output": {"entities": {"gene": [{"text": "QPCT", "start": 20, "end": 24}], "disease": [{"text": "melanoma", "start": 93, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "QPCT", "start": 20, "end": 24}, "tail": {"text": "melanoma", "start": 93, "end": 101}}]}}, "schema": []}
{"input": "Genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.", "output": {"entities": {"gene": [{"text": "C1r", "start": 73, "end": 76}], "disease": [{"text": "autoimmune diseases", "start": 115, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "There were significant decreases in the DR3, 5, 6, 8 group (DR5, DR6, or DR8) antigen frequencies in patients with retinal perivasculitis, high intraocular pressure (or secondary glaucoma), and optic nerve and/or macular lesion.", "output": {"entities": {"gene": [{"text": "DR3", "start": 40, "end": 43}], "disease": [{"text": "retinal perivasculitis", "start": 115, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Insulin resistance in eNOS (-/-) mice was related specifically to impaired NO synthesis, because in equally hypertensive 1-kidney/1-clip mice (a model of renovascular hypertension), insulin-stimulated glucose uptake was normal.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 22, "end": 26}], "disease": [{"text": "Insulin resistance", "start": 0, "end": 18}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "eNOS", "start": 22, "end": 26}, "tail": {"text": "Insulin resistance", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "The recurrent (12; 21) (p13; q22) translocation fuses the two genes TEL and AML1 that have previously been cloned from translocation breakpoints in myeloid leukemias.", "output": {"entities": {"gene": [{"text": "AML1", "start": 76, "end": 80}], "disease": [{"text": "translocation", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to demonstrate MSC markers in granulomas of ITB and evaluate whether distribution of MSC markers could differentiate between granulomas of Crohn' s and ITB.", "output": {"entities": {"gene": [{"text": "MSC", "start": 45, "end": 48}], "disease": [{"text": "granulomas", "start": 60, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Two of the MME were diploid and the other two MME were aneuploid.", "output": {"entities": {"gene": [{"text": "MME", "start": 11, "end": 14}], "disease": [{"text": "aneuploid", "start": 55, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The role of CD40 and CD40L in bone mineral density and in osteoporosis risk: A genetic and functional study.", "output": {"entities": {"gene": [{"text": "CD40", "start": 12, "end": 16}], "disease": [{"text": "bone mineral density", "start": 30, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 119, "end": 124}], "disease": [{"text": "spondylitis", "start": 60, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, those granulomas positive for IL-4 were always positive for IFN-gamma.", "output": {"entities": {"gene": [{"text": "IFN", "start": 74, "end": 77}], "disease": [{"text": "granulomas", "start": 20, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "HIF-1alpha mRNA expression is differentially upregulated in esophageal squamous cell carcinoma compared to adenocarcinomas, but does not predict tumor regression or prognosis.", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 0, "end": 10}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 60, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIF-1alpha", "start": 0, "end": 10}, "tail": {"text": "esophageal squamous cell carcinoma", "start": 60, "end": 94}}]}}, "schema": []}
{"input": "We found these results to be concordant with our observation of decreased expression of IRF7 in the prefrontal cortex of MDDs with negative toxicological evidence for antidepressant treatment at the time of death.", "output": {"entities": {"gene": [{"text": "IRF7", "start": 88, "end": 92}], "disease": [{"text": "MDD", "start": 121, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IRF7", "start": 88, "end": 92}, "tail": {"text": "MDD", "start": 121, "end": 124}}]}}, "schema": []}
{"input": "(1991) reported an association between homozygosity in a polymorphic site at codon 129 of the PrP gene, coding for either valine or methionine, with a tendency to acquire the sporadic or iatrogenic forms of CJD, as well as with disease age of appearance in the genetic type.", "output": {"entities": {"gene": [{"text": "PrP", "start": 94, "end": 97}], "disease": [{"text": "CJD", "start": 207, "end": 210}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PrP", "start": 94, "end": 97}, "tail": {"text": "CJD", "start": 207, "end": 210}}]}}, "schema": []}
{"input": "We showed that chronic alcohol intoxication decreases brain-derived neurotrophic factor mRNA expression in discrete regions of the rat hippocampus (CA1 region and dentate gyrus) and in the supraoptic nucleus of the hypothalamus.", "output": {"entities": {"gene": [{"text": "brain-derived neurotrophic factor", "start": 54, "end": 87}], "disease": [{"text": "alcohol intoxication", "start": 23, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "brain-derived neurotrophic factor", "start": 54, "end": 87}, "tail": {"text": "alcohol intoxication", "start": 23, "end": 43}}]}}, "schema": []}
{"input": "We report here the identification and characterization of a novel gene (AUTS2) that spans the 7q11. 2 breakpoint in a monozygotic twin pair concordant for autism and a t (7; 20) (q11. 2; p11. 2) translocation.", "output": {"entities": {"gene": [{"text": "p11", "start": 187, "end": 190}], "disease": [{"text": "autism", "start": 155, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "The peripheral viremia and expression of host cytokines were not altered in MMP9 (-/-) mice; however, these animals were protected from lethal WNV challenge.", "output": {"entities": {"gene": [{"text": "MMP9", "start": 76, "end": 80}], "disease": [{"text": "viremia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "All animals were prepared for measurement of CBF by the radiolabeled microsphere method under 1. 4% end-tidal (1. 0 MAC) isoflurane anesthesia.", "output": {"entities": {"gene": [{"text": "MAC", "start": 116, "end": 119}], "disease": [{"text": "anesthesia", "start": 132, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In a cross-sectional, hospital-based setting, we compared the amino acid sequences of NS5A-PKR-binding domain and E2-PePHD in the sera of 104 chronic hepatitis, 44 cirrhosis and 96 HCC patients.", "output": {"entities": {"gene": [{"text": "PKR", "start": 91, "end": 94}], "disease": [{"text": "chronic hepatitis", "start": 142, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "However, no significant allelic associations were detected between the STR and either the combined mood disorders (P = 0. 885), the unipolar group (P = 0. 296), or the bipolar group (P = 0. 605).", "output": {"entities": {"gene": [{"text": "STR", "start": 71, "end": 74}], "disease": [{"text": "mood disorders", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have established links between DDR and the oncogenic kinase AKT1, which is upregulated in about 50% of sporadic breast cancers.", "output": {"entities": {"gene": [{"text": "DDR", "start": 46, "end": 49}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Because PRIMA1 anchors acetylcholinesterase in neuronal membranes, decreased expression could result in decreased enzyme function and increased cholinergic transmission, consistent with a role in MDD.", "output": {"entities": {"gene": [{"text": "PRIMA1", "start": 8, "end": 14}], "disease": [{"text": "MDD", "start": 196, "end": 199}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRIMA1", "start": 8, "end": 14}, "tail": {"text": "MDD", "start": 196, "end": 199}}]}}, "schema": []}
{"input": "BCL-2/adenovirus E1B-19 kDa-interacting protein 3 (BNIP3) represents a paradigm of a cell death protein that is hypoxically upregulated via HIF-1 in most cancers.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 51, "end": 56}], "disease": [{"text": "adenovirus", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Focal adhesion kinase enhances signaling through the Shc/extracellular signal-regulated kinase pathway in anaplastic astrocytoma tumor biopsy samples.", "output": {"entities": {"gene": [{"text": "Focal adhesion kinase", "start": 0, "end": 21}], "disease": [{"text": "anaplastic astrocytoma", "start": 106, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Peritonitis due to group A Streptococcus (GAS) and toxic shock syndrome occurred in a previously healthy 45-year-old woman with an intrauterine device.", "output": {"entities": {"gene": [{"text": "GAS", "start": 42, "end": 45}], "disease": [{"text": "toxic shock syndrome", "start": 51, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Guidelines recommend initial evaluation of the tumour with immunohistochemistry or microsatellite instability testing followed by germline testing for mutations in MMR genes in those with abnormal results.", "output": {"entities": {"gene": [{"text": "MMR", "start": 164, "end": 167}], "disease": [{"text": "microsatellite instability", "start": 83, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "To accomplish this, we constructed a recombinant adenoviral vector encoding the CEA cDNA inserted downstream of a cytomegalovirus (CMV) promoter (AdCMVCEA).", "output": {"entities": {"gene": [{"text": "CEA", "start": 80, "end": 83}], "disease": [{"text": "cytomegalovirus", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Oligoclonal expansions of CD4 + and CD8 + T-cells in the target organ of patients with biliary atresia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 26, "end": 29}], "disease": [{"text": "biliary atresia", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In this model, increments in FGF23 and MEPE, respectively, cause renal phosphate wasting and intrinsic mineralization abnormalities.", "output": {"entities": {"gene": [{"text": "FGF23", "start": 29, "end": 34}], "disease": [{"text": "abnormalities", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "By using conditions that limited the progression of the poxvirus replication cycle, we observed that early gene transcripts activated PKR in RK13 cells, identifying a new PKR-activating mechanism of poxvirus infection.", "output": {"entities": {"gene": [{"text": "PKR", "start": 134, "end": 137}], "disease": [{"text": "poxvirus infection", "start": 199, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands with ND, and from some of their family members.", "output": {"entities": {"gene": [{"text": "NDP", "start": 70, "end": 73}], "disease": [{"text": "ND", "start": 70, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDP", "start": 70, "end": 73}, "tail": {"text": "ND", "start": 70, "end": 72}}]}}, "schema": []}
{"input": "There was a trend found among the majority of homozygous A and G variants in LEP-2548 G/A and LEPR 668 A/G in over-weight and obese individuals in comparison to normal-weight subjects (CG).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 94, "end": 98}], "disease": [{"text": "weight", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Reduced protein expression of Mcl-1, cyclin D1, phosphorylated retinoblastoma protein pRB (T821), and significant transcriptional down-regulation of genes related to cellular proliferation and survival were shown in some patients posttreatment, indicative of cell cycle modulation by seliciclib, more specifically inhibition of cdk2/cyclin E, cdk7/cyclin H, and cdk9/cyclin T. Brief treatment with this regimen of seliciclib in patients with nasopharyngeal carcinoma is tolerable at 400 mg bd and associated with tumor pharmacodynamic changes consistent with cdk inhibition, and warrants further efficacy studies in this tumor.", "output": {"entities": {"gene": [{"text": "cyclin H", "start": 348, "end": 356}], "disease": [{"text": "nasopharyngeal carcinoma", "start": 442, "end": 466}]}, "relations": {}}, "schema": []}
{"input": "LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.", "output": {"entities": {"gene": [{"text": "LGI1 gene", "start": 0, "end": 9}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into a transcriptional activator.", "output": {"entities": {"gene": [{"text": "NAB2", "start": 24, "end": 28}], "disease": [{"text": "SFT", "start": 70, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NAB2", "start": 24, "end": 28}, "tail": {"text": "SFT", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "The association between variation in fat oxidation rates among obese subjects and genotype was studied for 42 common single-nucleotide polymorphisms (SNPs) in 26 candidate genes for fat oxidation, insulin resistance, and obesity, including FTO.", "output": {"entities": {"gene": [{"text": "FTO", "start": 240, "end": 243}], "disease": [{"text": "insulin resistance", "start": 197, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Loss of Ptf1a alone is sufficient to induce acinar-to-ductal metaplasia, potentiate inflammation, and induce a KRAS-permissive, PDAC-like gene expression profile.", "output": {"entities": {"gene": [{"text": "Ptf1a", "start": 8, "end": 13}], "disease": [{"text": "metaplasia", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Another keratin, and possibly the type I partner of K6hf, could be responsible for loose anagen hair syndrome in other patients, or the gene involved may be a minor gene.", "output": {"entities": {"gene": [{"text": "K6hf", "start": 52, "end": 56}], "disease": [{"text": "loose anagen hair syndrome", "start": 83, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K6hf", "start": 52, "end": 56}, "tail": {"text": "loose anagen hair syndrome", "start": 83, "end": 109}}]}}, "schema": []}
{"input": "TBI containing conditioning regimens, body mass index > or = 25, and methylenetetrahydrofolate reductase 677 TT genotype were found to be predictive of higher mean OMI scores (P <. 05).", "output": {"entities": {"gene": [{"text": "OMI", "start": 164, "end": 167}], "disease": [{"text": "body mass index", "start": 38, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The results revealed that EEET increased myocardial hypertrophy (LV weight/tibial length), myocyte cross-sectional area, hypertrophy-related pathways (IL6/STAT3-MEK5-ERK5, calcineurin-NFATc3, p38 and JNK MAPK), hypertrophic markers (ANP/BNP), pro-apoptotic molecules (cytochrome C, cleaved caspase-3 and PARP), and fibrosis-related pathways (FGF-2-ERK1/2) and fibrosis markers (uPA, MMP-9 and-2).", "output": {"entities": {"gene": [{"text": "cytochrome C", "start": 268, "end": 280}], "disease": [{"text": "fibrosis", "start": 315, "end": 323}]}, "relations": {}}, "schema": []}
{"input": "P450scc was transcriptionally regulated in Y-1, MA-10, and C6 glioma cells, but not in GC or GT1-7 cells.", "output": {"entities": {"gene": [{"text": "GT1", "start": 93, "end": 96}], "disease": [{"text": "glioma", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "RLIP76 homozygous knockout mice exhibit increased insulin sensitivity, hypoglycemia, and hypolipidemia, and resist cancer development.", "output": {"entities": {"gene": [{"text": "RLIP76", "start": 0, "end": 6}], "disease": [{"text": "hypoglycemia", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy.", "output": {"entities": {"gene": [{"text": "KRT12", "start": 47, "end": 52}], "disease": [{"text": "Meesmann corneal dystrophy", "start": 61, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT12", "start": 47, "end": 52}, "tail": {"text": "Meesmann corneal dystrophy", "start": 61, "end": 87}}]}}, "schema": []}
{"input": "The expression of TWEAK and TNF-α protein was stronger in cholesteatoma tissue than in EAC skin.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 18, "end": 23}], "disease": [{"text": "cholesteatoma", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Several studies report association of alpha-4 nicotinic acetylcholine receptors (encoded by CHRNA4) with nicotine dependence (ND).", "output": {"entities": {"gene": [{"text": "alpha-4", "start": 38, "end": 45}], "disease": [{"text": "nicotine dependence", "start": 105, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The ERG shows abnormalities associated with carrier status in this family with a single exon deletion.", "output": {"entities": {"gene": [{"text": "ERG", "start": 4, "end": 7}], "disease": [{"text": "abnormalities", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that downregulation of ENO-1 could be utilized as a novel pharmacological approach for overcoming 4-OHT resistance in breast cancer therapy.", "output": {"entities": {"gene": [{"text": "ENO-1", "start": 45, "end": 50}], "disease": [{"text": "breast cancer", "start": 140, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ENO-1", "start": 45, "end": 50}, "tail": {"text": "breast cancer", "start": 140, "end": 153}}]}}, "schema": []}
{"input": "We have established an unusual human NB cell line (NBL-S) from the primary tumor of a patient with rapidly progressive disease which lacks N-myc amplification.", "output": {"entities": {"gene": [{"text": "NBL", "start": 51, "end": 54}], "disease": [{"text": "rapidly progressive", "start": 99, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Lipocalin-2 levels correlated with insulin resistance (homeostasis model assessment of insulin resistance) and inflammation (CRP) in whole cohorts and NAFLD, whereas cathepsin S and chemerin only correlated positively with insulin resistance and inflammation in whole cohorts.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 182, "end": 190}], "disease": [{"text": "insulin resistance", "start": 35, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "This study investigated the serum vascular endothelial growth factor (VEGF) levels in children with community-acquired pneumonia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 70, "end": 74}], "disease": [{"text": "community-acquired pneumonia", "start": 100, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "MMR alterations are involved in the development of both hereditary and sporadic forms of colorectal carcinoma related to ulcerative colitis (UC).", "output": {"entities": {"gene": [{"text": "MMR", "start": 0, "end": 3}], "disease": [{"text": "ulcerative colitis", "start": 121, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Compared with control LPMC, Crohn' s disease (CD) LPMC exhibited significantly higher levels of LAK cell activity, whereas ulcerative colitis (UC) cells showed significantly lower levels of cytolytic activity with a difference in the frequency of CD3 +, CD56 + and CD3 +, CD56 + LAK precursor cells.", "output": {"entities": {"gene": [{"text": "LAK", "start": 96, "end": 99}], "disease": [{"text": "ulcerative colitis", "start": 123, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Metformin improves the angiogenic potential of human CD34 ⁺ cells co-incident with downregulating CXCL10 and TIMP1 gene expression and increasing VEGFA under hyperglycemia and hypoxia within a therapeutic window for myocardial infarction.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 146, "end": 151}], "disease": [{"text": "hypoxia", "start": 176, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "TTR-mediated amyloid cardiomyopathies are chronic and progressive conditions that lead to arrhythmias, biventricular heart failure, and death.", "output": {"entities": {"gene": [{"text": "TTR", "start": 0, "end": 3}], "disease": [{"text": "biventricular heart failure", "start": 103, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We obtained a total of 137, 706 expressed tags (Gene Expression Omnibus accession number GSE 545, SAGE Hiroshima gastric cancer tissue), including 38, 903 that were unique.", "output": {"entities": {"gene": [{"text": "GSE", "start": 89, "end": 92}], "disease": [{"text": "gastric cancer", "start": 113, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Given the retinal vascular phenotype observed in persons with NF1, we hypothesize that preserving neurofibromin may be a novel strategy to control pathologic retinal neovascularization.", "output": {"entities": {"gene": [{"text": "neurofibromin", "start": 98, "end": 111}], "disease": [{"text": "retinal neovascularization", "start": 158, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neurofibromin", "start": 98, "end": 111}, "tail": {"text": "retinal neovascularization", "start": 158, "end": 184}}]}}, "schema": []}
{"input": "The percentage of FGFR1 mRNA + cells was higher in depression (CA1 and CA4) and schizophrenia (CA4) than in controls.", "output": {"entities": {"gene": [{"text": "CA1", "start": 63, "end": 66}], "disease": [{"text": "depression", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In view of recent studies highlighting the prognostic relevance of expression and CpG island methylator phenotype (CIMP) of Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3) in invasive duct cell carcinoma (IDC), we hypothesized in this article that impaired one-carbon metabolism might influence CIMP phenotype of BNIP3.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 175, "end": 180}], "disease": [{"text": "adenovirus", "start": 130, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The VEGF-Rs and VEGFs expression levels were increased by an incubation under hypoxic conditions in NCI-H82.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 4, "end": 8}], "disease": [{"text": "hypoxic", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The present study aimed to assess the prevalence of NKX2. 5 mutations in Italian patients with sporadic non-syndromic and syndromic CHD, as well as to appraise any genotype-phenotype correlations.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 52, "end": 59}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "At the mRNA level, CTGF expression was increased after TL, and decreased in the teratogen model of CDH and lung hypoplasia after nitrofen administration.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 19, "end": 23}], "disease": [{"text": "lung hypoplasia", "start": 107, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The model with the best fit combined 8 covariates, including the 5 clinicopathological variables prostate specific antigen, Gleason score, pathological stage, lymph node involvement and margin status, and 3 single nucleotide polymorphisms at the KLK2, SULT1A1 and TLR4 genes.", "output": {"entities": {"gene": [{"text": "SULT1A1", "start": 252, "end": 259}], "disease": [{"text": "fit", "start": 24, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "A mutation in the gene encoding for Cdk4, Cdk4R24C, causes this kinase to be insensitive to INK4 cell cycle inhibitors and induces beta cell hyperplasia in Cdk4R24C knockin mice.", "output": {"entities": {"gene": [{"text": "Cdk4", "start": 36, "end": 40}], "disease": [{"text": "hyperplasia", "start": 141, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Competitive ELISAs for measuring total BSP, DSPP, MEPE, and OPN were applied to a test group of 102 subjects with prostate cancer and 110 normal subjects and a validation group of 90 subjects.", "output": {"entities": {"gene": [{"text": "MEPE", "start": 50, "end": 54}], "disease": [{"text": "prostate cancer", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "To understand the role of aberrant expression of AQP in this disease, we over-expressed AQP3 and AQP9 in human melanoma WM266. 4 cells and found that both AQPs significantly increased the chemoresistance of WM266. 4 cells to arsenite.", "output": {"entities": {"gene": [{"text": "AQP9", "start": 97, "end": 101}], "disease": [{"text": "melanoma", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Compared with WT mice with CHF, brain-selective ACE2 overexpression attenuated left ventricular end-diastolic pressure; decreased urinary norepinephrine excretion; baseline renal sympathetic nerve activity (WT CHF: 71. 6 ± 7. 6% max versus SA CHF: 49. 3 ± 6. 1% max); and enhanced baroreflex sensitivity (maximum slope: WT sham: 1. 61 ± 0. 16%/mm Hg versus SA CHF: 1. 51 ± 0. 17%/mm Hg).", "output": {"entities": {"gene": [{"text": "ACE2", "start": 48, "end": 52}], "disease": [{"text": "diastolic pressure", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Low expression of RUNX3 may have an important role in aggressiveness, lymph node metastasis and neural invasion in pancreatic cancer.", "output": {"entities": {"gene": [{"text": "RUNX3", "start": 18, "end": 23}], "disease": [{"text": "aggressiveness", "start": 54, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Sequences just upstream of the new bcl-2 breakpoints suggest a mechanism of translocation that may include minisatellite core-mediated recombination.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 35, "end": 40}], "disease": [{"text": "translocation", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "GPR26 is highly expressed in fetal and adult brain, but frequently reduced or absent in glioma cells and biopsies, due to de novo methylation of its 5' CpG island.", "output": {"entities": {"gene": [{"text": "GPR26", "start": 0, "end": 5}], "disease": [{"text": "glioma", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Phosphatase and tensin homologue (PTEN) loss and activation of the Akt-mammalian target of rapamycin (mTOR) pathway increases mRNA translation, increases levels of the antiapoptotic protein FLIP (S), and confers resistance to tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-induced apoptosis in glioblastoma multiforme (GBM).", "output": {"entities": {"gene": [{"text": "tensin", "start": 16, "end": 22}], "disease": [{"text": "glioblastoma multiforme", "start": 311, "end": 334}]}, "relations": {}}, "schema": []}
{"input": "The genes that correlated most highly with arthritis severity included those for collagen triple-helix repeat-containing 1 (Cthrc1), metalloproteinase (Adamts12), R-spondin (Rspo2), and syndecan (Sdc2) (r = 0. 87-0. 91).", "output": {"entities": {"gene": [{"text": "Sdc2", "start": 196, "end": 200}], "disease": [{"text": "arthritis", "start": 43, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Treatment of mice with gefitinib 4 wk after the induction of TGF-alpha prevented further increases in and partially reversed total collagen levels and changes in pulmonary mechanics and pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "TGF-alpha", "start": 61, "end": 70}], "disease": [{"text": "pulmonary hypertension", "start": 186, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGF-alpha", "start": 61, "end": 70}, "tail": {"text": "pulmonary hypertension", "start": 186, "end": 208}}]}}, "schema": []}
{"input": "However, miR-183 yielded an area under the curve (AUC) of 0. 808 with 59. 8% sensitivity and 91. 8% specificity in discriminating HCC from benign liver diseases (CH and LC) or NC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 130, "end": 133}], "disease": [{"text": "liver diseases", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of BRG1 but not BRM protein was observed in invasive cancer cells.", "output": {"entities": {"gene": [{"text": "BRG1", "start": 24, "end": 28}], "disease": [{"text": "invasive cancer", "start": 65, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In consequence, we hypothesized that fibrinogen (Fg) might play a critical role in this process and, accordingly, we found that defibrination of animals decreased both the acute phase proteinuria in NTN (approximately 70%) as well as the influx of PLTs and PMNs into the glomerulus (approximately 40-50%).", "output": {"entities": {"gene": [{"text": "NTN", "start": 199, "end": 202}], "disease": [{"text": "proteinuria", "start": 184, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Circulating GPC-3 mRNA was detected in 70. 7% of HCC tissues, with relation to TNM stage, periportal cancerous embolus, and extra-hepatic metastasis (P < 0. 001).", "output": {"entities": {"gene": [{"text": "GPC", "start": 12, "end": 15}], "disease": [{"text": "embolus", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "IGF-I and INS variable number tandem repeat genotype were not associated with birth weight.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 0, "end": 5}], "disease": [{"text": "birth weight", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "]-1beta (β), IL-6, IL-8, IL-10, and tumor necrosis factor-alpha) in the presence of azithromycin in EB-stimulated cells from both fertile and infertile women with primary and recurrent C. trachomatis infection.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 13, "end": 17}], "disease": [{"text": "infertile", "start": 142, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events.", "output": {"entities": {"gene": [{"text": "FGF23", "start": 90, "end": 95}], "disease": [{"text": "abnormalities", "start": 762, "end": 775}]}, "relations": {}}, "schema": []}
{"input": "Asperger disorder (ASP) is one of the autism spectrum disorders (ASD) and is differentiated from autism largely on the absence of clinically significant cognitive and language delays.", "output": {"entities": {"gene": [{"text": "ASP", "start": 19, "end": 22}], "disease": [{"text": "autism", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Gross morphological abnormalities of the kidney, including altered size, weight, texture, and color, are evident in LRRK2-/-mice at 3-4 months of age, along with increased accumulation of autofluorescent granules in proximal renal tubules.", "output": {"entities": {"gene": [{"text": "LRRK2", "start": 116, "end": 121}], "disease": [{"text": "abnormalities", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "This prompted us to investigate the role of MuRF1 in two independent mouse models of cardiac atrophy: 1) cardiac hypertrophy regression after reversal of transaortic constriction (TAC) reversal and 2) dexamethasone-induced atrophy.", "output": {"entities": {"gene": [{"text": "MuRF1", "start": 44, "end": 49}], "disease": [{"text": "constriction", "start": 166, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) mRNA levels are increased in GBM and moderate in PA. Immunohistochemical study showed that cytoplasmic AM, VEGF and HIF-1α nuclear immunoreactivity were recorded in GBM located near large necrotic areas whereas they were not expressed by PA tumour cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "necrotic", "start": 230, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "A definitive diagnosis of ATTR depends on the detection and identification of TTR variants.", "output": {"entities": {"gene": [{"text": "TTR", "start": 27, "end": 30}], "disease": [{"text": "ATTR", "start": 26, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTR", "start": 27, "end": 30}, "tail": {"text": "ATTR", "start": 26, "end": 30}}]}}, "schema": []}
{"input": "In addition, underweight during course of the disease (p = 0. 012) was associated with NOD2 variants.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 87, "end": 91}], "disease": [{"text": "underweight", "start": 13, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Ratios of their 17. 5-kDa (mutant)/22-kDa (normal) GH1 transcripts were determined in cultured lymphocytes (CLs), and these ratios were correlated with height sd scores obtained before GH replacement therapy.", "output": {"entities": {"gene": [{"text": "GH1", "start": 51, "end": 54}], "disease": [{"text": "height", "start": 152, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The two major signalling cascades activated by the gp130 receptor, SHP2/ERK and STAT pathways, have been demonstrated to play important roles in cardiac development, hypertrophy, protection and remodelling in response to physiological and pathophysiological stimuli.", "output": {"entities": {"gene": [{"text": "ERK", "start": 72, "end": 75}], "disease": [{"text": "hypertrophy", "start": 166, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The level of VEGF mRNA in HCC tissues, however, did not significantly correlate with tumor size, cellular differentiation, capsule, daughter nodules, vascular permeation, necrosis and hemorrhage of tumors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 13, "end": 17}], "disease": [{"text": "necrosis", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the abnormalities of p53, Mdmx and Mdm2 genes in archived breast cancers.", "output": {"entities": {"gene": [{"text": "Mdmx", "start": 64, "end": 68}], "disease": [{"text": "abnormalities", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Conversely, chloroquine-treated VCPR155H/+ mice revealed progressive muscle weakness, cytoplasmic accumulation of TDP-43, ubiquitin-positive inclusion bodies and increased LC3-I/II, p62/SQSTM1, and optineurin expression levels.", "output": {"entities": {"gene": [{"text": "optineurin", "start": 198, "end": 208}], "disease": [{"text": "progressive muscle weakness", "start": 57, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Here we report a 7-year-old Japanese boy with a heterozygous missense mutation in COL2A1, 2582G & gt; T (Gly861Val), whose phenotype matched that of SMD-A.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 82, "end": 88}], "disease": [{"text": "SMD-A", "start": 149, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 82, "end": 88}, "tail": {"text": "SMD-A", "start": 149, "end": 154}}]}}, "schema": []}
{"input": "The alteration of MALT1 by translocation strongly suggests that this gene plays an important role in the pathogenesis of MALT lymphoma.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 18, "end": 23}], "disease": [{"text": "translocation", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Preclinical low field MRI was able to monitor efficacy of suicide gene therapy in delaying the tumor growth in an in vivo mouse model of orthotopic glioblastoma.", "output": {"entities": {"gene": [{"text": "MRI", "start": 22, "end": 25}], "disease": [{"text": "glioblastoma", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "RCAN1-1L levels can also be increased by multiple chronic stresses and by glucocorticoids, both of which can cause neurodegeneration.", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 0, "end": 5}], "disease": [{"text": "neurodegeneration", "start": 115, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Phenotypes with greatest genetic similarity were asthma and atopy (0. 46), IgE and eosinophilia (0. 44), AHR and D. pter (0. 43) and AHR and airway obstruction (-0. 43).", "output": {"entities": {"gene": [{"text": "AHR", "start": 105, "end": 108}], "disease": [{"text": "airway obstruction", "start": 141, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "IL-8 > IL-6 in patients with bacterial keratitis; IL-8 > IL-6 > IL-1β and increased frequency of circulating CD3-CD56 + NK cells in patients with gram-negative keratitis; and IL-8 = IL-6 > IL-1β in patients with fungal keratitis.", "output": {"entities": {"gene": [{"text": "CD56", "start": 113, "end": 117}], "disease": [{"text": "fungal keratitis", "start": 212, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "ANOVA shows that apoE polymorphism effects were quite similar before and after alcohol withdrawal on all serum Apos and Lps (the interaction term between withdrawal and apoE genotype was not significant).", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 0, "end": 5}], "disease": [{"text": "alcohol withdrawal", "start": 79, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The sensitivity and clinical utility of the polymerase chain reaction (PCR) assay for the detection of BCR-ABL gene rearrangement was compared to conventional cytogenetics for the Philadelphia chromosome (Ph1) in adult acute lymphoblastic leukemia (ALL) patients entered onto a single clinical trial.", "output": {"entities": {"gene": [{"text": "Ph1", "start": 205, "end": 208}], "disease": [{"text": "adult acute lymphoblastic leukemia", "start": 213, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that GNPAT, SUMO1, SPINT2, FLI1, and SSX1 play critical roles in synergy with inflammation pathways in modulating melanoma cell survival and could serve as sensitizing targets to enhance CDDO-Me efficacy in melanoma growth control.", "output": {"entities": {"gene": [{"text": "SSX1", "start": 59, "end": 63}], "disease": [{"text": "inflammation", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that PIGT mutations caused neurological impairment and multiple congenital anomalies in this patient.", "output": {"entities": {"gene": [{"text": "PIGT", "start": 28, "end": 32}], "disease": [{"text": "neurological impairment", "start": 50, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "For rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and osteoarthritis diseases, those common factors include TNFSF10, CX3CR1, LY96, TLR5, TXN, TIA1, PRKCH, and PRF1.", "output": {"entities": {"gene": [{"text": "PRKCH", "start": 177, "end": 182}], "disease": [{"text": "spondylitis", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Nine of these tumors (1 ESN, 8 ESSs, and 1 UES) exhibited unusual histologic features, including smooth muscle (3), sex cord (7), epithelioid (1), fibromyxoid (1), and skeletal muscle (2) differentiation.", "output": {"entities": {"gene": [{"text": "ESSs", "start": 31, "end": 35}], "disease": [{"text": "tumors", "start": 14, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2, 5 MLH1 and 4 MSH6) enrolled in the Australasian, Mayo Clinic and Ontario sites of the Colon Cancer Family Registry were examined for clinico-pathologic features and MMR-deficiency (immunohistochemical loss of MMR protein expression and high levels of microsatellite instability; MSI-H).", "output": {"entities": {"gene": [{"text": "MMR", "start": 69, "end": 72}], "disease": [{"text": "microsatellite instability", "start": 352, "end": 378}]}, "relations": {}}, "schema": []}
{"input": "RER was detected in 11. 5% of gastric carcinomas, at one or more microsatellite repeat loci.", "output": {"entities": {"gene": [{"text": "RER", "start": 0, "end": 3}], "disease": [{"text": "carcinomas", "start": 38, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The angiogenic response in aged rats was further diminished by the persistent upregulation of \" inflammatory \" genes (Cxcl12, Mmp8, Mmp12, Mmp14, Mpeg1, Tnfrsf1a, Tnfrsf1b) and vigorous expression of genes required for the buildup of the fibrotic scar (Cthrc1, Il6ra, Il13ar1, Il18, Mmp2, Rassf4, Tgfb1, Tgfbr2, Timp1).", "output": {"entities": {"gene": [{"text": "Timp1", "start": 312, "end": 317}], "disease": [{"text": "scar", "start": 247, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Tumor suppressive activity of a variant isoform of manganese superoxide dismutase released by a human liposarcoma cell line.", "output": {"entities": {"gene": [{"text": "manganese superoxide dismutase", "start": 51, "end": 81}], "disease": [{"text": "liposarcoma", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "MRI did not show frank APH (by height criteria) in any of the subjects: pituitary height was normal (5. 6 mm, + 1. 8 SDS) in the oldest sibling, and it was low but not below 2 SDS by age-adjusted criteria in the second (3 mm,-1. 4 SDS), and third sibling (2. 8 mm,-1. 7 SDS).", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "height", "start": 31, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Duration of HCV infection, age at infection, current age, route of infection, viral genotype, alcohol consumption, fibrosis stage and inflammatory score were not correlated with ANA + or ANA pattern.", "output": {"entities": {"gene": [{"text": "ANA", "start": 178, "end": 181}], "disease": [{"text": "infection, viral", "start": 67, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Patients with microduplications including NSD1 appear to have a consistent phenotype consisting of short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 42, "end": 46}], "disease": [{"text": "short palpebral fissures", "start": 237, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "In the present case report, we describe an 18-year-old male with mild intellectual disability, short stature, and mosaicism for a 0. 422 Mb deletion on 2q24. 2 that was diagnosed by comparative genomic hybridization and confirmed with fluorescent in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 270, "end": 274}], "disease": [{"text": "short stature", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Four IFN-treated patients presented clinical thyroid disorders, including autoimmune hypothyroidism (n = 2), transient thyrotoxicosis (n = 1) and subacute thyroiditis (n = 1).", "output": {"entities": {"gene": [{"text": "IFN", "start": 5, "end": 8}], "disease": [{"text": "subacute thyroiditis", "start": 146, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Patients were divided into three groups on the basis of their funduscopic and electroretinographic features: (1) a normal ERG by the standards of the laboratory; (2) minimal rod or cone abnormalities; (3) severe ERG dysfunction.", "output": {"entities": {"gene": [{"text": "ERG", "start": 122, "end": 125}], "disease": [{"text": "abnormalities", "start": 186, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Activation of AKT is a complex process involving translocation to the plasma membrane and phosphorylation of serine and threonine amino-acid residues.", "output": {"entities": {"gene": [{"text": "AKT", "start": 14, "end": 17}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Mean chromosome abnormalities in dual-translocation FLs and DLBCLs did not differ from IgH/BCL2 FLs and DLBCLs.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 91, "end": 95}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Functional experiments were carried out to check whether ectopic expression of ΔNp73 modifies the proliferation, drug resistance, migration, and invasion properties of colon tumor cells and the expression of ABCB1, HMGB1, and CASP1.", "output": {"entities": {"gene": [{"text": "CASP1", "start": 226, "end": 231}], "disease": [{"text": "colon tumor", "start": 168, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: The majority of rare EGFR mutations was associated with smoking, shorter overall survival, and decreased TKI response when compared with classic EGFR mutations.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 34, "end": 38}], "disease": [{"text": "smoking", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In the light of these findings, we suggest that the increase in expression of Mn-SOD, ROS production and oxidative damage in affected tissues may play an important role in the pathogenesis and progression of the CPEO syndrome.", "output": {"entities": {"gene": [{"text": "Mn-SOD", "start": 78, "end": 84}], "disease": [{"text": "CPEO", "start": 212, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mn-SOD", "start": 78, "end": 84}, "tail": {"text": "CPEO", "start": 212, "end": 216}}]}}, "schema": []}
{"input": "Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder predisposing to gastrointestinal hamartomatous polyps and cancer with a pathogenic SMAD4 or BMPR1A germline mutation (1st-hit) being identified in about 40-50% of patients.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 164, "end": 170}], "disease": [{"text": "hit", "start": 194, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the HMGA1a-induced aberrant exon skipping is caused by impaired dissociation of U1 snRNP from the 5' splice site, leading to a defect in exon definition.", "output": {"entities": {"gene": [{"text": "HMGA1a", "start": 21, "end": 27}], "disease": [{"text": "dissociation", "start": 81, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Three new heterozygous mutations clustered on one allele of the CDMP1 gene were identified in the affected individuals resulting in the first familial case with dominant Du Pan syndrome.", "output": {"entities": {"gene": [{"text": "CDMP1", "start": 64, "end": 69}], "disease": [{"text": "Du Pan syndrome", "start": 170, "end": 185}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDMP1", "start": 64, "end": 69}, "tail": {"text": "Du Pan syndrome", "start": 170, "end": 185}}]}}, "schema": []}
{"input": "These findings suggest that tumor development, including neovascularization and invasion in clear-cell RCCs, might be regulated by SPARC from stromal endothelial cells and fibroblasts and that sarcomatoid transformation from common-type RCCs is associated with upregulation of SPARC expression; SPARC may contribute to its aggressive tumor phenotype.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 131, "end": 136}], "disease": [{"text": "neovascularization", "start": 57, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The hypoxic induction of PFKFB4 mRNA was equivalent to the expression of PFKFB3, Glut1, and VEGF, which are known HIF-1-dependent genes.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 92, "end": 96}], "disease": [{"text": "hypoxic", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "This study evaluated SAS gene amplification, and MDM2 and CDK4 protein expression in 20 tumor samples of central low-grade osteosarcoma (16 primary, 3 recurrences, 1 lung metastasis).", "output": {"entities": {"gene": [{"text": "SAS", "start": 21, "end": 24}], "disease": [{"text": "lung metastasis", "start": 166, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "In the infertile group without endometriosis, single-marker analysis revealed statistical difference for rs2280883 and rs2232368 FOXP3 polymorphisms.", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 129, "end": 134}], "disease": [{"text": "infertile", "start": 7, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Elevated OPN, IP-10, and neutrophilia in loop-mediated isothermal amplification confirmed tuberculosis patients.", "output": {"entities": {"gene": [{"text": "IP-10", "start": 14, "end": 19}], "disease": [{"text": "neutrophilia", "start": 25, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that expression of the EAATs and the EAAT regulating proteins ARHGEF11, JWA, G-protein suppressor pathway 1 (GPS1), and KIAA0302 are altered in the brain in schizophrenia.", "output": {"entities": {"gene": [{"text": "ARHGEF11", "start": 78, "end": 86}], "disease": [{"text": "schizophrenia", "start": 173, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARHGEF11", "start": 78, "end": 86}, "tail": {"text": "schizophrenia", "start": 173, "end": 186}}]}}, "schema": []}
{"input": "Consistent with these results, overexpression of phosphotyrosine interaction domain-containing protein 1 (PID1) in human myoblasts resulted in reduced insulin signaling and glucose uptake, whereas knockdown of PID1 enhanced glucose uptake and insulin signaling in human myoblasts and improved the insulin sensitivity following palmitate-, TNF-α-, or myostatin-induced insulin resistance in human myoblasts.", "output": {"entities": {"gene": [{"text": "PID1", "start": 106, "end": 110}], "disease": [{"text": "insulin sensitivity", "start": 297, "end": 316}]}, "relations": {}}, "schema": []}
{"input": "In 1833 cells in vitro, COX-2 signaling pathway was critical for nuclear HIF-1α-protein expression/translocation, mechanisms determining HIF-1 activity and gene expression.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 73, "end": 79}], "disease": [{"text": "translocation", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In a survival analysis, patients homozygous for CYP2B6 * 5 (n = 3) or CYP2C19 * 2 (n = 4) had a higher probability of reaching ESRD (P = 0. 0005) and of doubling the creatinine level (P = 0. 0005) as well as a trend toward a lower probability of achieving a complete renal response (P = 0. 051).", "output": {"entities": {"gene": [{"text": "CYP2B6", "start": 48, "end": 54}], "disease": [{"text": "ESRD", "start": 127, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2B6", "start": 48, "end": 54}, "tail": {"text": "ESRD", "start": 127, "end": 131}}]}}, "schema": []}
{"input": "Our data suggest a defective G (1)/S checkpoint in cells from BRCA1 heterozygotes in response to UVA although this is not reflected in genomic instability as measured by micronuclei induction after oxidative stress or MMC treatment.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 62, "end": 67}], "disease": [{"text": "genomic instability", "start": 135, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Overexpressions of SUMO-1 were detected in HCC cell lines and clinical HCC samples, while the expression level of SUMO-1 in the non-neoplastic liver tissues was significantly lower (P < 0. 001).", "output": {"entities": {"gene": [{"text": "HCC", "start": 43, "end": 46}], "disease": [{"text": "non-neoplastic", "start": 128, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Identification of all WD mutations will undoubtedly increase our understanding of the normal function of ATP7B as well as lead to more accurate prognosis and genetic counseling.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 105, "end": 110}], "disease": [{"text": "WD", "start": 22, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 105, "end": 110}, "tail": {"text": "WD", "start": 22, "end": 24}}]}}, "schema": []}
{"input": "More recently, SOX2 was shown to participate in reprogramming of adult somatic cells to a pluripotent stem cell state and implicated in tumorigenesis in various organs.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 15, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Adhesion proteins contribute to the regulation of metastasis, and thus this study sought to investigate the role of radixin in the migration, invasion and adhesion of gastric cancer cells, as well as its interaction with adhesion proteins in vitro.", "output": {"entities": {"gene": [{"text": "radixin", "start": 116, "end": 123}], "disease": [{"text": "adhesion", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that HARP may act in a paracrine manner from mesenchymal to tumoral epithelial cells, and may play a role in the molecular mechanisms that regulate prostate tumor cell growth.", "output": {"entities": {"gene": [{"text": "HARP", "start": 25, "end": 29}], "disease": [{"text": "prostate tumor", "start": 168, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "In order to define the molecular basis of progressive external ophthalmoplegia and parkinsonism, we screened for mutations in PEO1, ANT1, POLG genes and the whole mitochondrial genome in two families.", "output": {"entities": {"gene": [{"text": "ANT1", "start": 132, "end": 136}], "disease": [{"text": "parkinsonism", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Genetic and environmental factors have been linked to the etiology of EGFR mutations and sensitivity to EGFR-TKIs in non-smoking NSCLC patients.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 70, "end": 74}], "disease": [{"text": "smoking", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We show that combined Rae1 and Nup98 haploinsufficiency in mice results in premature separation of sister chromatids, severe aneuploidy and untimely degradation of securin.", "output": {"entities": {"gene": [{"text": "Rae1", "start": 22, "end": 26}], "disease": [{"text": "aneuploidy", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Serum fasting plasma glucose (FPG), post-prandial plasma glucose (PPG), glycated haemoglobin (HbAlc), fasting serum insulin (FINS), post-prandial serum insulin (PINS), triglyceride (TG), total cholesterol (CHO), homeostasis model assessment of insulin resistance (HOMA-IR), low-density lipoprotein-cholesterol (LDL-C) and high-density lipoprotein-cholesterol (HDL-C) were determined before and after repaglinide treatment.", "output": {"entities": {"gene": [{"text": "PINS", "start": 161, "end": 165}], "disease": [{"text": "insulin resistance", "start": 244, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Normal platelets resuspended in MPS platelet-poor plasma (PPP) did not undergo SPA, whereas MPS platelets resuspended in normal PPP or Ca2 +-free, fibrinogen-free Tyrode' s continued to show SPA.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 135, "end": 138}], "disease": [{"text": "fibrinogen", "start": 147, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the novel R840 mutation in the androgen receptor is the cause of partial androgen insensitivity syndrome in this Brazilian family.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 48, "end": 65}], "disease": [{"text": "partial androgen insensitivity syndrome", "start": 82, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 48, "end": 65}, "tail": {"text": "partial androgen insensitivity syndrome", "start": 82, "end": 121}}]}}, "schema": []}
{"input": "We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the & #945; & #946;-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia.", "output": {"entities": {"gene": [{"text": "TBCD", "start": 38, "end": 42}], "disease": [{"text": "optic atrophy", "start": 439, "end": 452}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TBCD", "start": 38, "end": 42}, "tail": {"text": "optic atrophy", "start": 439, "end": 452}}]}}, "schema": []}
{"input": "Unique mutations of Bruton' s tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.", "output": {"entities": {"gene": [{"text": "Bruton' s tyrosine kinase", "start": 20, "end": 45}], "disease": [{"text": "X-linked agammaglobulinemia", "start": 68, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Bruton' s tyrosine kinase", "start": 20, "end": 45}, "tail": {"text": "X-linked agammaglobulinemia", "start": 68, "end": 95}}]}}, "schema": []}
{"input": "Moreover, sporadic female FLN1 mutations associated with PH appear to cause either severe or partial loss of function.", "output": {"entities": {"gene": [{"text": "FLN1", "start": 26, "end": 30}], "disease": [{"text": "sporadic", "start": 10, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "(P387) TSP-4 and its fragment (residues 326 to 722), but not the A (387) forms, suppressed EC adhesion and proliferation.", "output": {"entities": {"gene": [{"text": "TSP", "start": 7, "end": 10}], "disease": [{"text": "adhesion", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "This study found a strong association between the HO-1 variable number tandem repeat polymorphism and cardiovascular disease risk confined to subjects with a high number of repeats on both HO-1 alleles and provides evidence for accelerated atherogenesis and decreased antioxidant defense in this vascular high-risk group.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 50, "end": 54}], "disease": [{"text": "atherogenesis", "start": 240, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "At age 6 years she was readmitted for severe ataxia and blindness, seizures, and severe developmental regression leading to NCL (neuronal ceroid lipofuscinosis) suspicion.", "output": {"entities": {"gene": [{"text": "NCL", "start": 124, "end": 127}], "disease": [{"text": "seizures", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "To assess if single nucleotide polymorphisms (SNPs) across four genes that are relevant to methotrexate metabolism [folypolyglutamate synthase (FPGS), gamma-glutamyl hydrolase (GGH), methylenetetrahydrofolate reductase (MTHFR) and 5-aminoimidazole-4-carboxamide ribonucleotide transformylase (ATIC)] are related to treatment outcomes in patients with psoriasis.", "output": {"entities": {"gene": [{"text": "ATIC", "start": 293, "end": 297}], "disease": [{"text": "psoriasis", "start": 351, "end": 360}]}, "relations": {}}, "schema": []}
{"input": "miR-145 is differentially regulated by TGF-β1 and ischaemia and targets Disabled-2 expression and wnt/β-catenin activity.", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 102, "end": 111}], "disease": [{"text": "ischaemia", "start": 50, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "YC-1 inhibits HIF-1alpha expression in hypoxic pancreatic cancer cells, which is accompanied by the translocation of HIF-1alpha from nucleus to cytoplasm, decreased mRNA expression of VEGF and GPI, reduced cell proliferative vitality, and increased apoptosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 184, "end": 188}], "disease": [{"text": "hypoxic", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of APAP-induced apoptosis and K18 cleavage by the caspase inhibitor N-benzyloxycarbonyl-Val-Ala-Asp (OMe) fluoromethyl ketone are associated with increased hepatic damage, by a shift to necrotic cell death only.", "output": {"entities": {"gene": [{"text": "K18", "start": 45, "end": 48}], "disease": [{"text": "necrotic cell death", "start": 201, "end": 220}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "K18", "start": 45, "end": 48}, "tail": {"text": "necrotic cell death", "start": 201, "end": 220}}]}}, "schema": []}
{"input": "Importantly, several patients with the PM-scleroderma overlap syndrome had anti-C1D antibodies but no anti-PM-Scl antibodies.", "output": {"entities": {"gene": [{"text": "C1D", "start": 80, "end": 83}], "disease": [{"text": "overlap syndrome", "start": 54, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "DC-CLM, a cadherin-like molecule cloned from human dendritic cells, inhibits growth of breast cancer cells.", "output": {"entities": {"gene": [{"text": "CLM", "start": 3, "end": 6}], "disease": [{"text": "breast cancer", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The possibility of using pharmacological agents to increase expression of AQP9 gene delivers the promise of new therapies for the treatment of leukemia.", "output": {"entities": {"gene": [{"text": "AQP9", "start": 74, "end": 78}], "disease": [{"text": "leukemia", "start": 143, "end": 151}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AQP9", "start": 74, "end": 78}, "tail": {"text": "leukemia", "start": 143, "end": 151}}]}}, "schema": []}
{"input": "These data suggest that sst (2) regulates angiogenic responses to the hypoxic insult through a modulation of retinal levels of VEGF and its receptors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 127, "end": 131}], "disease": [{"text": "hypoxic", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Her second pregnancy ended with the spontaneous miscarriage of a fetus who had inherited the PHOX2B mutation, thus confirming germline mosaicism in the mother and the need of proper genetic counseling to CCHS families.", "output": {"entities": {"gene": [{"text": "PHOX2B", "start": 93, "end": 99}], "disease": [{"text": "miscarriage", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that bcl-2 and hypoxia can act synergistically to modulate VEGF expression and the in vivo angiogenic response in the MCF7 ADR line.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 85, "end": 89}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The recessive genes FGD4, PRX, MTMR2, SBF2, SH3TC2 and GDAP1 were mutated in patients presenting with early foot deformities and variable delay in motor milestones after an uneventful neonatal period.", "output": {"entities": {"gene": [{"text": "SBF2", "start": 38, "end": 42}], "disease": [{"text": "foot deformities", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The observation of an accompanying large deletion, revealed by molecular characterization of the t (3; 20) translocation, is similar to the only other translocation reported in an AGS patient; a t (2; 20) translocation was also found to have a large deletion of the JAG1 region at 20p12.", "output": {"entities": {"gene": [{"text": "JAG1", "start": 266, "end": 270}], "disease": [{"text": "translocation", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The TEL/AML1 fusion results from a t (12; 21) (p13; q22) chromosomal translocation, but was undetectable at the routine cytogenetic level.", "output": {"entities": {"gene": [{"text": "AML1", "start": 8, "end": 12}], "disease": [{"text": "chromosomal translocation", "start": 57, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Numbers of polymorphonuclear leucocytes and lymphocyte subsets, plasma concentrations of several acute phase reactants and cytokines, and gene expression levels of toll-like receptor 4 (TLR-4), interleukin 10 (IL-10) and heat shock protein beta 1 (HSPB1) were determined during and up to 24 h after treatment.", "output": {"entities": {"gene": [{"text": "HSPB1", "start": 248, "end": 253}], "disease": [{"text": "shock", "start": 226, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "PPP vesicle fluid (PPP-VF) induced the expression of mRNAs encoding IL-17C, IL-8, IL-1α, and IL-1β in living skin equivalents, but the level of only IL-8 mRNA decreased significantly upon stimulation of PPP vesicle with depletion of endogenous hCAP-18/LL-37 by affinity chromatography (dep-PPP-VF).", "output": {"entities": {"gene": [{"text": "IL-8", "start": 76, "end": 80}], "disease": [{"text": "vesicle", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "Knowledge of the sequence and structure of the human GNAL gene provides essential information for further analysis of the GNAL locus at chromosome 18p11 which has been linked to bipolar disorder and schizophrenia.", "output": {"entities": {"gene": [{"text": "GNAL", "start": 53, "end": 57}], "disease": [{"text": "bipolar disorder", "start": 178, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNAL", "start": 53, "end": 57}, "tail": {"text": "bipolar disorder", "start": 178, "end": 194}}]}}, "schema": []}
{"input": "Analysis of polymorphism in locus of the gene of serotonin transporter (hSERT) was performed in men of Russian and Tatar nationalities with acute alcoholic psychoses by polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 49, "end": 70}], "disease": [{"text": "alcoholic psychoses", "start": 146, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Knowledge on inter-scan variability of the normalized enhancement ratio of plaque (NER (plaque)) and relation between NER (plaque) and gadolinium content for inversion-recovery fast spin echo is limited.", "output": {"entities": {"gene": [{"text": "NER", "start": 83, "end": 86}], "disease": [{"text": "plaque", "start": 75, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Therefore, despite the low-allele frequencies of the risk alleles of the gene in our two Asian populations, ITGAM was confirmed to be a risk factor related to disease susceptibility and probably severe manifestations of SLE.", "output": {"entities": {"gene": [{"text": "ITGAM", "start": 108, "end": 113}], "disease": [{"text": "SLE", "start": 220, "end": 223}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGAM", "start": 108, "end": 113}, "tail": {"text": "SLE", "start": 220, "end": 223}}]}}, "schema": []}
{"input": "Stabilization of tetrameric transthyretin (TTR) by binding of small ligands is a current strategy aimed at inhibiting amyloid fibrillogenesis in transthyretin-associated pathologies, such as senile systemic amyloidosis (SSA) and familial amyloidotic polyneuropathy (FAP).", "output": {"entities": {"gene": [{"text": "SSA", "start": 220, "end": 223}], "disease": [{"text": "polyneuropathy", "start": 250, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "These data provide evidence that a human chromosome 1 locus, harboring the LEPR gene, contributes to plasma leptin concentrations, adiposity and body weight in humans affected with this insulin resistant dyslipidemic syndrome.", "output": {"entities": {"gene": [{"text": "LEPR gene", "start": 75, "end": 84}], "disease": [{"text": "body weight", "start": 145, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "As compared with children whose fathers did not report a myocardial infarction, those whose fathers reported having had an infarction (n = 139) had a lower mean level of apolipoprotein A-I (137 vs. 141 mg per deciliter; P = 0. 04) and a lower ratio of low-density lipoprotein cholesterol to apolipoprotein B (1. 08 vs. 1. 11; P = 0. 007), along with a higher ratio of apolipoprotein B to apolipoprotein A-I (0. 64 vs. 0. 61; P = 0. 04).", "output": {"entities": {"gene": [{"text": "apolipoprotein A-I", "start": 170, "end": 188}], "disease": [{"text": "infarction", "start": 68, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Today, it is evident that tumor hypoxia is a common feature of many cancers and the master regulator of hypoxia, hypoxia-inducible factor-1 (HIF-1), regulates multiple aspects of tumorigenesis, including angiogenesis, proliferation, metabolism, metastasis, differentiation, and response to radiation therapy.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 141, "end": 146}], "disease": [{"text": "tumorigenesis", "start": 179, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that KOR activation provides a similar degree of infarct size reduction as DOR activation.", "output": {"entities": {"gene": [{"text": "DOR", "start": 98, "end": 101}], "disease": [{"text": "infarct", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "HIF-1alpha expression and VEGF secretion in glioma cell lines under normoxia and hypoxia were examined using ELISA and Western blot.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 26, "end": 30}], "disease": [{"text": "hypoxia", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Our finding suggests that sensory gating is modulated by an interaction of TCF4 genotype with smoking, and both factors may play a role in early information processing deficits also in schizophrenia.", "output": {"entities": {"gene": [{"text": "TCF4", "start": 75, "end": 79}], "disease": [{"text": "smoking", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Endoplasmic reticulum aminopeptidase 1 (ERAP1) exhibits functionally significant interaction with HLA-B27 and relates to subtype specificity in ankylosing spondylitis.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 40, "end": 45}], "disease": [{"text": "spondylitis", "start": 155, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Impaired DNA repair involving the nucleotide excision repair (NER)/transcription-coupled repair (TCR) pathway cause human pathologies associated with severe neurological symptoms.", "output": {"entities": {"gene": [{"text": "NER", "start": 62, "end": 65}], "disease": [{"text": "neurological symptoms", "start": 157, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "In animal models, MV-ERV but not the control MV-Edm caused the regression of s. c. xenografts of resistant multiple myeloma tumors (MM1) in severe combined immunodeficient mice.", "output": {"entities": {"gene": [{"text": "MM1", "start": 132, "end": 135}], "disease": [{"text": "multiple myeloma", "start": 107, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Plaque suPAR levels correlated with plaque content of lipids and macrophages and with proinflammatory chemokines and cytokines monocyte chemoattractant protein 1, tumor necrosis factor α, interleukin 1β, interleukin 6, platelet-derived growth factor AB/BB, monocyte inflammatory protein 1β, regulated on activation normal T-cell expressed and secreted, and s-CD40L.", "output": {"entities": {"gene": [{"text": "interleukin 6", "start": 204, "end": 217}], "disease": [{"text": "plaque", "start": 36, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice.", "output": {"entities": {"gene": [{"text": "SOX10", "start": 10, "end": 15}], "disease": [{"text": "neurodegeneration", "start": 43, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "AZIN2 was also detected in a vesicle-like distribution in the somas of selected cortical pyramidal neurons.", "output": {"entities": {"gene": [{"text": "AZIN2", "start": 0, "end": 5}], "disease": [{"text": "vesicle", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The features of these are 1) late onset of seizures, 2) good response to ACTH therapy, 3) no significant abnormalities of brain except for agenesis of corpus callosum.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 73, "end": 77}], "disease": [{"text": "seizures", "start": 43, "end": 51}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 73, "end": 77}, "tail": {"text": "seizures", "start": 43, "end": 51}}]}}, "schema": []}
{"input": "We intended to find significant correlations among morphological features, histological grades, immunohistochemical findings, and cytogenetical aberrations in malignant follicular lymphomas, in order to identify the prognostic and predictive value of the bcl-2/IgH translocation in these malignancies.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 255, "end": 260}], "disease": [{"text": "translocation", "start": 265, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "These findings link the TREM2 missense mutation with specific molecular abnormalities and increases in neuropathological lesions in the human brain.", "output": {"entities": {"gene": [{"text": "TREM2", "start": 24, "end": 29}], "disease": [{"text": "abnormalities", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.", "output": {"entities": {"gene": [{"text": "gelsolin-like capping protein", "start": 214, "end": 243}], "disease": [{"text": "keloid", "start": 84, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gelsolin-like capping protein", "start": 214, "end": 243}, "tail": {"text": "keloid", "start": 84, "end": 90}}]}}, "schema": []}
{"input": "In a variety of microsatellite instability (MSI) positive cancers where mutations in the mismatch repair (MMR) genes were not observed, allelic imbalance at the loci of the MMR genes was prevalent.", "output": {"entities": {"gene": [{"text": "MMR", "start": 106, "end": 109}], "disease": [{"text": "microsatellite instability", "start": 16, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Methylation of genes regulating cell-cycle check-point (INK4 cyclin-dependent kinase inhibitors), apoptosis (XAF1), adhesion (CDH13), JUNB and Wnt signalling (soluble Wnt inhibitors) has been implicated in pathogenesis of haematological and epithelial cancers.", "output": {"entities": {"gene": [{"text": "XAF1", "start": 109, "end": 113}], "disease": [{"text": "adhesion", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "MLK7 is identical to leucine zipper and sterile-alpha motif protein kinase (ZAK) through the leucine zipper domain but has a completely divergent COOH-terminus and shares approximately 40% homology with the other MLKs overall.", "output": {"entities": {"gene": [{"text": "ZAK", "start": 76, "end": 79}], "disease": [{"text": "sterile", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, FISH applied to 50 of these cases, as well as conventional cytogenetics available in 3 cases, revealed absence of the translocation t (14; 18) involving the BCL2 gene, which is present in about 15% of adult GCB subtype DLBCL.", "output": {"entities": {"gene": [{"text": "BCL2 gene", "start": 172, "end": 181}], "disease": [{"text": "translocation", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "In addition, mice bearing SRG-transfected melanoma had more tumor formation and larger tumor growth.", "output": {"entities": {"gene": [{"text": "SRG", "start": 26, "end": 29}], "disease": [{"text": "melanoma", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: Taken together, our findings point to TrkA as a candidate oncogene in MM and support a model in which the NGF-TrkA-MAPK pathway may mediate a trade-off between neoplastic transformation and adaptive anti-proliferative response.", "output": {"entities": {"gene": [{"text": "NGF", "start": 119, "end": 122}], "disease": [{"text": "neoplastic transformation", "start": 173, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Notably, we found intragenic deletions in one of three exons of the VHL gene and increased mRNAs of VEGF, PDGF-β, and IGF-1/2 in 56% of GISTs, suggesting a mechanistic link between VHL inactivation and overexpression of hypoxia-inducible factor target genes in the absence of hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 100, "end": 104}], "disease": [{"text": "hypoxia", "start": 220, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The Fbw7 and betaTRCP E3 ubiquitin ligases and their roles in tumorigenesis.", "output": {"entities": {"gene": [{"text": "Fbw7", "start": 4, "end": 8}], "disease": [{"text": "tumorigenesis", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Involvement of BH4 domain of bcl-2 in the regulation of HIF-1-mediated VEGF expression in hypoxic tumor cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 71, "end": 75}], "disease": [{"text": "hypoxic", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We examined the interactions of BDNF, COMT and gender differences in terms of personality characteristics in PD.", "output": {"entities": {"gene": [{"text": "COMT", "start": 38, "end": 42}], "disease": [{"text": "personality characteristics", "start": 78, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In contrast, MVMi did not complete its life cycle in any of the human nervous cells, though it efficiently killed the astrocytic tumor cells by two types of nonproductive infections: (i) normal synthesis of all viral macromolecules with a late defect in infectious virion maturation and release to the medium in U373; and (ii) high levels of accumulation of the full set of viral messenger RNAs and of both nonstructural (NS-1) and structural (VP-1 and VP-2) proteins, under a very low viral DNA amplification, in U87 and SW1088 cells.", "output": {"entities": {"gene": [{"text": "NS-1", "start": 422, "end": 426}], "disease": [{"text": "nervous", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "This is mainly due to the high percentage of slow acetylator genotypes (SA) in patients compared with controls (60. 0 versus 38. 9%; P < 0. 02) with a distinct preponderance in subjects with minimal/mild endometriosis (69. 4%, P < 0. 005) where there is a significantly elevated frequency of slow allele S1 (NAT2 * 5) (P = 0. 05).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 308, "end": 312}], "disease": [{"text": "mild", "start": 199, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the coding region of DCX were found in all reported pedigrees and in about 50% of sporadic female patients with subcortical band heterotopia.", "output": {"entities": {"gene": [{"text": "DCX", "start": 34, "end": 37}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Gene level disturbances in cellular and molecular networks impacted by alcohol and alcoholism pathology include transketolase (TKT), transferrin (TF), and myelin (e. g., MBP, MOBP, and MOG).", "output": {"entities": {"gene": [{"text": "MBP", "start": 170, "end": 173}], "disease": [{"text": "alcoholism", "start": 83, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MBP", "start": 170, "end": 173}, "tail": {"text": "alcoholism", "start": 83, "end": 93}}]}}, "schema": []}
{"input": "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.", "output": {"entities": {"gene": [{"text": "CYP11B1", "start": 102, "end": 109}], "disease": [{"text": "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "start": 0, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP11B1", "start": 102, "end": 109}, "tail": {"text": "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "start": 0, "end": 68}}]}}, "schema": []}
{"input": "Here, we investigate the impact of an alteration of HDAC6 expression in estrogen receptor alpha (ER)-positive breast cancer MCF-7 cells, as we identified that HDAC6 is a novel estrogen-regulated gene.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 176, "end": 199}], "disease": [{"text": "breast cancer", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Increasing evidence implicates metabotropic glutamate receptor mGlu (7) in the pathophysiology of stress-related disorders such as depression and anxiety.", "output": {"entities": {"gene": [{"text": "mGlu (7", "start": 63, "end": 70}], "disease": [{"text": "depression", "start": 131, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGlu (7", "start": 63, "end": 70}, "tail": {"text": "depression", "start": 131, "end": 141}}]}}, "schema": []}
{"input": "Rs1800872 (AA vs. AC + CC genotype, OR = 1. 60; 1. 06-2. 39), rs1554286 (TT vs. CT + CC genotype, OR = 1. 59; 1. 06-2. 39), and rs3021094 (CC/CA vs. AA genotype, OR = 1. 64; 1. 04-2. 60) were all significantly associated with ischemic stroke even after controlling for age, sex, smoking, systolic blood pressure, total cholesterol, glucose, body mass index and serum IL-10.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 367, "end": 372}], "disease": [{"text": "systolic blood pressure", "start": 288, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "These cases extend the experience with AHCY deficiency in humans, based until now on only the four patients previously identified, and suggest that the deficiency in question may be a cause of fetal hydrops and developmental abnormalities of the brain.", "output": {"entities": {"gene": [{"text": "AHCY", "start": 39, "end": 43}], "disease": [{"text": "abnormalities", "start": 225, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "CD26 activity was stimulated by calcium-induced intercellular adhesion in keratinocytes, suggesting that the upregulation of CD26 in InvEE epidermis is due to expansion of the differentiated cell layers.", "output": {"entities": {"gene": [{"text": "CD26", "start": 0, "end": 4}], "disease": [{"text": "adhesion", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Bcl2-negative follicular lymphomas frequently have Bcl6 translocation and/or Bcl6 or p53 expression.", "output": {"entities": {"gene": [{"text": "Bcl2", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Three heterozygous missense mutations in the motor domain of myosin 1c (Myo1c), which mediates adaptation in the inner ear, are associated with bilateral sensorineural hearing loss in humans.", "output": {"entities": {"gene": [{"text": "Myo1c", "start": 72, "end": 77}], "disease": [{"text": "bilateral sensorineural hearing loss", "start": 144, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Myo1c", "start": 72, "end": 77}, "tail": {"text": "bilateral sensorineural hearing loss", "start": 144, "end": 180}}]}}, "schema": []}
{"input": "Our high mutation frequencies in EGFR exon 18 and KRAS and low mutation frequency in EGFR exon 21 are strikingly divergent from those in other smoking and never smoking populations from Asia.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 33, "end": 37}], "disease": [{"text": "smoking", "start": 143, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Because DCN has been shown to deposit in arteries in cerebral small vessel disease, we tested whether BGN accumulates in arteries of CADASIL brains.", "output": {"entities": {"gene": [{"text": "BGN", "start": 102, "end": 105}], "disease": [{"text": "cerebral small vessel disease", "start": 53, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "To examine the possibility that TTR SNPs affect specific components of the AD process, we tested association of these SNPs with four measures of neurodegeneration and cerebrovascular disease defined by magnetic resonance imaging (MRI) in a subset of 48 African American and 265 Caucasian sibships.", "output": {"entities": {"gene": [{"text": "MRI", "start": 230, "end": 233}], "disease": [{"text": "cerebrovascular disease", "start": 167, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "We aimed to investigate the role of sphingosine-kinase (SphK) 1 and 2, the enzymes responsible for endogenous S1P production, on the induction of food allergy.", "output": {"entities": {"gene": [{"text": "SphK", "start": 56, "end": 60}], "disease": [{"text": "food allergy", "start": 146, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "High-level amplification of eIF3-p40 was found in 30% of hormone-refractory prostate tumors and in 18% of untreated primary breast tumors.", "output": {"entities": {"gene": [{"text": "p40", "start": 33, "end": 36}], "disease": [{"text": "breast tumors", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We report, for the first time, a possible involvement of MCTP2 as a potential novel susceptibility gene for schizophrenia.", "output": {"entities": {"gene": [{"text": "MCTP2", "start": 57, "end": 62}], "disease": [{"text": "schizophrenia", "start": 108, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCTP2", "start": 57, "end": 62}, "tail": {"text": "schizophrenia", "start": 108, "end": 121}}]}}, "schema": []}
{"input": "These results indicate that p70 (S6K) may play a critical role in tumor progression in ovarian cancer through the induction of EMT.", "output": {"entities": {"gene": [{"text": "EMT", "start": 127, "end": 130}], "disease": [{"text": "tumor progression", "start": 66, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).", "output": {"entities": {"gene": [{"text": "SLC33A1", "start": 23, "end": 30}], "disease": [{"text": "SPG42", "start": 120, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC33A1", "start": 23, "end": 30}, "tail": {"text": "SPG42", "start": 120, "end": 125}}]}}, "schema": []}
{"input": "In PML patients, the higher concentration of MCP-1 correlated with lower JC viral load (r =-. 405, P =. 036).", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 45, "end": 50}], "disease": [{"text": "viral load", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "This hypotensive effect of neuropeptide Y upregulation was associated with reduced proteinuria and cardiac hypertrophy and fibrosis.", "output": {"entities": {"gene": [{"text": "neuropeptide Y", "start": 27, "end": 41}], "disease": [{"text": "fibrosis", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Levels of proliferation and activities of signal transduction molecules were examined in both GNG2-overexpressed and-depleted human malignant melanoma cells.", "output": {"entities": {"gene": [{"text": "GNG2", "start": 94, "end": 98}], "disease": [{"text": "malignant melanoma", "start": 132, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, thyroid mitogenic factor-stimulated GRK2 accumulation may explain, in part, high GRK2 levels in differentiated carcinoma, because TSH, insulin, or IGF-I is known to be involved in the thyroid cancer progression.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 51, "end": 55}], "disease": [{"text": "carcinoma", "start": 126, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that SHH may have a role in human tumorigenesis.", "output": {"entities": {"gene": [{"text": "SHH", "start": 24, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking JunD (knockout [KO]) showed increased mortality and enhanced cardiomyocyte apoptosis and fibrosis associated with increased levels of hypoxia-induced factor-1alpha, vascular endothelial growth factor (VEGF), p53, and Bax protein and reduced levels of Bcl-2 protein after 7 days of severe pressure overload compared with wild-type (WT) siblings.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 214, "end": 218}], "disease": [{"text": "hypoxia", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Combining the crucial role that zinc plays in cell growth and the proven role of metalloproteases in metastasis presents an exciting indication of how LIV-1 plays a role in breast cancer progression.", "output": {"entities": {"gene": [{"text": "LIV-1", "start": 151, "end": 156}], "disease": [{"text": "breast cancer", "start": 173, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LIV-1", "start": 151, "end": 156}, "tail": {"text": "breast cancer", "start": 173, "end": 186}}]}}, "schema": []}
{"input": "Two patients with multiple osteochondromas demonstrated a germline mutation combined with loss of the remaining wild-type allele in three osteochondromas, indicating that, in cartilaginous cells of the growth plate, inactivation of both copies of the EXT1 gene is required for osteochondroma formation in hereditary cases.", "output": {"entities": {"gene": [{"text": "EXT1", "start": 251, "end": 255}], "disease": [{"text": "multiple osteochondromas", "start": 18, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EXT1", "start": 251, "end": 255}, "tail": {"text": "multiple osteochondromas", "start": 18, "end": 42}}]}}, "schema": []}
{"input": "In colon epithelial cells (CCD 841, HT-29, Caco-2), direct application of 5-HT induced production of reactive oxygen species (ROS) and monocyte-epithelial adhesion, an initial event of inflammation, which were blocked not only by 5-HT receptor antagonists (tropisetron, RS39604, and SB269970), antioxidants (ascorbic acid, apocynin), and various inhibitors of NADPH oxidase (DPI), CREB (KG-501), and NF-κB (PDTC), but also by transfection with Nox2 siRNA.", "output": {"entities": {"gene": [{"text": "DPI", "start": 375, "end": 378}], "disease": [{"text": "inflammation", "start": 185, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Transformation of CREF cells with wild-type 5 adenovirus (Wt) results in transformed cells which display anchorage-independence and an increased saturation density in monolayer culture, but are non-tumorigenic in both athymic nude mice and syngeneic Fischer rats.", "output": {"entities": {"gene": [{"text": "CREF", "start": 18, "end": 22}], "disease": [{"text": "adenovirus", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "As demonstrated with type 1 diabetic nephropathy, the GLUT1 Enh2 risk genotype, instead of XbaI, may be associated with type 2 diabetic albuminuria among European Americans, though an association is not conclusive.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 54, "end": 59}], "disease": [{"text": "albuminuria", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "A deficiency of HCS is accountable for early onset biotin-responsive multiple carboxylase deficiency.", "output": {"entities": {"gene": [{"text": "HCS", "start": 16, "end": 19}], "disease": [{"text": "early onset biotin-responsive multiple carboxylase deficiency", "start": 39, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HCS", "start": 16, "end": 19}, "tail": {"text": "early onset biotin-responsive multiple carboxylase deficiency", "start": 39, "end": 100}}]}}, "schema": []}
{"input": "In HCC cells, starvation also activated the phosphatidylinositol 3-kinase (PI3K)/AKT pathway, which blocks the translocation of DRAM to mitochondria through the binding of p-AKT to DRAM in the cytoplasm.", "output": {"entities": {"gene": [{"text": "HCC", "start": 3, "end": 6}], "disease": [{"text": "starvation", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Different mutations in the human Crumbs homolog-1 (CRB1) gene cause a variety of retinal dystrophies, such as Leber congenital amaurosis, early onset retinitis pigmentosa (e. g., RP12), RP with Coats-like exudative vasculopathy, and pigmented paravenous retinochoroidal atrophy.", "output": {"entities": {"gene": [{"text": "CRB1", "start": 51, "end": 55}], "disease": [{"text": "atrophy", "start": 270, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "Tannerella forsythia was detected in the deepest periodontal pockets in all subjects in the LAP and PAL groups.", "output": {"entities": {"gene": [{"text": "PAL", "start": 100, "end": 103}], "disease": [{"text": "periodontal pockets", "start": 49, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Chromogenic in situ hybridization (CISH) was performed in formalin fixed, paraffin embedded sections of uveal melanoma to analyze chromosome 1, 3, and 8 aberrations (n = 60).", "output": {"entities": {"gene": [{"text": "CISH", "start": 35, "end": 39}], "disease": [{"text": "uveal melanoma", "start": 104, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "One such study has led to the identification and validation of two new genes, IL23R and ARTS1, in ankylosing spondylitis pathogenesis.", "output": {"entities": {"gene": [{"text": "ARTS1", "start": 88, "end": 93}], "disease": [{"text": "spondylitis", "start": 109, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "In a model of chronic SiO (2) exposure, AhR activation by TCDD in C57Bl/6 mice resulted in reduced inflammation; however, the fibrotic response was not affected.", "output": {"entities": {"gene": [{"text": "AhR", "start": 40, "end": 43}], "disease": [{"text": "inflammation", "start": 99, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AhR", "start": 40, "end": 43}, "tail": {"text": "inflammation", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "Here we demonstrate that deletion of Lgr4/Gpr48 (G-protein-coupled receptor 48), a seven-transmembrane glycoprotein hormone receptor, potentiates TLR2/4-associated cytokine production and attenuates mouse resistance to septic shock.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 146, "end": 150}], "disease": [{"text": "septic shock", "start": 219, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Tissue factor-deficiency and protease activated receptor-1-deficiency reduce inflammation elicited by diet-induced steatohepatitis in mice.", "output": {"entities": {"gene": [{"text": "protease activated receptor-1", "start": 29, "end": 58}], "disease": [{"text": "inflammation", "start": 77, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "protease activated receptor-1", "start": 29, "end": 58}, "tail": {"text": "inflammation", "start": 77, "end": 89}}]}}, "schema": []}
{"input": "This result suggests that haplotypes of AhR gene play an important role in the development of lung cancer and there is a synergistic interaction between AhR gene and smoking for lung cancer risk.", "output": {"entities": {"gene": [{"text": "AhR gene", "start": 40, "end": 48}], "disease": [{"text": "smoking", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Signaling and adhesion events that are linked to cell migration such as p38 and ρ GTPase-family activation, F-actin polymerization, adhesion to fibronectin, and up-regulation of α5 integrin were also dependent on ADAM10 but not ADAM17.", "output": {"entities": {"gene": [{"text": "ADAM17", "start": 228, "end": 234}], "disease": [{"text": "adhesion", "start": 14, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Serum response factor enhances liver metastasis of colorectal carcinoma via alteration of the E-cadherin/beta-catenin complex.", "output": {"entities": {"gene": [{"text": "Serum response factor", "start": 0, "end": 21}], "disease": [{"text": "colorectal carcinoma", "start": 51, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In vitro antigenic stimulation of peripheral blood mononuclear cells from IgAN patients, healthy blood donors, and other nephropathies with microscopic hematuria showed that only in IgAN patients was CX3CR1 enhanced in a dose-dependent manner.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 200, "end": 206}], "disease": [{"text": "microscopic hematuria", "start": 140, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Hence, effects of hypoxia on FLT3 expression and biology could provide novel insight into AML biology.", "output": {"entities": {"gene": [{"text": "FLT3", "start": 29, "end": 33}], "disease": [{"text": "hypoxia", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Although normotensive, cardiac hypertrophy was evident with obesity, and cardiac fibrosis more pronounced in obese GPx4 (+/-) mice.", "output": {"entities": {"gene": [{"text": "GPx4", "start": 115, "end": 119}], "disease": [{"text": "cardiac hypertrophy", "start": 23, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Blood transcript levels of nine markers of ADCY3, DGKA, FAM46A, IGSF4A/CADM1, KIAA1539, MARCKS, PSME1, RAPH1 and TLR7, differed significantly between participants with MDD (N = 32) and ND controls (N = 32) at baseline (q & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "TLR7", "start": 113, "end": 117}], "disease": [{"text": "MDD", "start": 168, "end": 171}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR7", "start": 113, "end": 117}, "tail": {"text": "MDD", "start": 168, "end": 171}}]}}, "schema": []}
{"input": "Clinically, PGRN (+) cases had more frequent language impairment and parkinsonism.", "output": {"entities": {"gene": [{"text": "PGRN", "start": 12, "end": 16}], "disease": [{"text": "language impairment", "start": 45, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Of interest, hypoxic conditions dramatically upregulated VEGF expression at both the mRNA and protein levels.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 57, "end": 61}], "disease": [{"text": "hypoxic", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Genetic mapping supported the diagnosis of typical Oguchi disease in a Pakistani family and also resulted in the identification of a novel nonsense mutation (c. 614C & gt; A; p. S205X) in exon 1 of GRK1.", "output": {"entities": {"gene": [{"text": "GRK1", "start": 198, "end": 202}], "disease": [{"text": "Oguchi disease", "start": 51, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GRK1", "start": 198, "end": 202}, "tail": {"text": "Oguchi disease", "start": 51, "end": 65}}]}}, "schema": []}
{"input": "Our findings suggest that genetic variability in the leptin receptor and neuropeptide Y genes is implicated in body weight regulation, the LEPR Gln223Arg variant being associated with a BMI increase in this Caucasian population, especially in non-smokers, while the NPY Leu7Pro polymorphism was associated with BMI reduction in premenopausal women.", "output": {"entities": {"gene": [{"text": "NPY", "start": 266, "end": 269}], "disease": [{"text": "body weight", "start": 111, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "To describe a family with 13 members in four generations affected by early-onset isolated painful arthritis limited to the first metatarsophalangeal (MTP) joint but without evidence of generalized joint disease at follow-up.", "output": {"entities": {"gene": [{"text": "MTP", "start": 150, "end": 153}], "disease": [{"text": "painful", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.", "output": {"entities": {"gene": [{"text": "PMI", "start": 120, "end": 123}], "disease": [{"text": "CDG Ib", "start": 28, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMI", "start": 120, "end": 123}, "tail": {"text": "CDG Ib", "start": 28, "end": 34}}]}}, "schema": []}
{"input": "During necrosis the dying tumor cells released apyrase-sensitive nucleotides, which effectively stimulated monocyte migration and chemokinesis.", "output": {"entities": {"gene": [{"text": "apyrase", "start": 47, "end": 54}], "disease": [{"text": "necrosis", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "In addition, we analyzed mononucleotide repeat sequences (A8) in CUL2 in 55 colorectal and 45 gastric carcinomas with microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "CUL2", "start": 65, "end": 69}], "disease": [{"text": "microsatellite instability", "start": 118, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) IgH-MALT1 translocation was demonstrated in only one case (3. 3%), and the t (11; 18) API2-MALT1 translocation was not found in any of the cases.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 19, "end": 24}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "We report a novel amino acid substitution mutation (asparagine--& gt; aspartic acid) in codon 192 at the conserved 1A helix initiation site of the rod domain of KRT2E in a Japanese family with ichthyosis bullosa of Siemens.", "output": {"entities": {"gene": [{"text": "KRT2E", "start": 161, "end": 166}], "disease": [{"text": "ichthyosis bullosa of Siemens", "start": 193, "end": 222}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT2E", "start": 161, "end": 166}, "tail": {"text": "ichthyosis bullosa of Siemens", "start": 193, "end": 222}}]}}, "schema": []}
{"input": "As related to the dysregulated glutamatergic hypothesis of schizophrenia, the gene encoding VGLUT2 is the most plausible candidate involved in the pathogenesis of this illness.", "output": {"entities": {"gene": [{"text": "VGLUT2", "start": 92, "end": 98}], "disease": [{"text": "schizophrenia", "start": 59, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGLUT2", "start": 92, "end": 98}, "tail": {"text": "schizophrenia", "start": 59, "end": 72}}]}}, "schema": []}
{"input": "These findings suggest that IL-6 and LIF, but not CT-1, contribute to angiotensin II-dependent left ventricular hypertrophy in the two hypertensive rat models, TGR (mRen2) 27 and SHR.", "output": {"entities": {"gene": [{"text": "LIF", "start": 37, "end": 40}], "disease": [{"text": "left ventricular hypertrophy", "start": 95, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Results demonstrated that both liposomal transfer of HSP72 and thermal induction of HSP72 prevented NF-kappaB activation and translocation, TNF-alpha gene transcription, and subsequent ischemia-induced renal tubular cell apoptosis.", "output": {"entities": {"gene": [{"text": "HSP72", "start": 53, "end": 58}], "disease": [{"text": "ischemia", "start": 185, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "This mutation identifies a putative site for profibrillin to fibrillin processing, and is associated with isolated skeletal features of the Marfan syndrome, indicating that the FBN1 gene is one of the genes that determines height in the general population.", "output": {"entities": {"gene": [{"text": "FBN1 gene", "start": 177, "end": 186}], "disease": [{"text": "height", "start": 223, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "In contrast, ATF3 or ATF4 overexpression in nucleus accumbens decreases emotional reactivity and increases depression-like behavior, consistent with the behavioral phenotype induced by CREB.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 13, "end": 17}], "disease": [{"text": "depression", "start": 107, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATF3", "start": 13, "end": 17}, "tail": {"text": "depression", "start": 107, "end": 117}}]}}, "schema": []}
{"input": "Kaplan-Meier curves were used to estimate survival rates, and the Cox proportional hazard regression model was used to evaluate the prognostic impact of DNMT expression.", "output": {"entities": {"gene": [{"text": "DNMT", "start": 153, "end": 157}], "disease": [{"text": "regression", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "D-2-hydroxyglutaric aciduria (D-2-HGA) is a very rare autosomal recessive metabolic disorder that has recently been associated with mutations in the D-2-hydroxyglutarate dehydrogenase gene.", "output": {"entities": {"gene": [{"text": "D-2-hydroxyglutarate dehydrogenase", "start": 149, "end": 183}], "disease": [{"text": "D-2-HGA", "start": 30, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "D-2-hydroxyglutarate dehydrogenase", "start": 149, "end": 183}, "tail": {"text": "D-2-HGA", "start": 30, "end": 37}}]}}, "schema": []}
{"input": "To dissect the genetic architecture of sporadic ALS, we undertook a large sequencing study in 755 apparently sporadic ALS cases and 959 controls, analyzing 10 ALS genes: SOD1, C9orf72, TARDBP, FUS, ANG, CHMP2B, ATXN2, NIPA1, SMN1, and UNC13A.", "output": {"entities": {"gene": [{"text": "FUS", "start": 193, "end": 196}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "To examine the role of FKBP5-trauma interactions in the partly stress-related psychosis phenotype.", "output": {"entities": {"gene": [{"text": "FKBP5", "start": 23, "end": 28}], "disease": [{"text": "psychosis", "start": 78, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FKBP5", "start": 23, "end": 28}, "tail": {"text": "psychosis", "start": 78, "end": 87}}]}}, "schema": []}
{"input": "Cyclon/CCDC68 might be involved in the immune system disturbances observed in schizophrenia.", "output": {"entities": {"gene": [{"text": "CCDC68", "start": 7, "end": 13}], "disease": [{"text": "schizophrenia", "start": 78, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCDC68", "start": 7, "end": 13}, "tail": {"text": "schizophrenia", "start": 78, "end": 91}}]}}, "schema": []}
{"input": "Altogether, these findings show that genetic alterations in DKC1 could contribute to tumorigenesis associated with somatic cancers and establish a critical role for DKC1 in tumor suppression, at least in part, through translational control of p27.", "output": {"entities": {"gene": [{"text": "p27", "start": 243, "end": 246}], "disease": [{"text": "tumorigenesis", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The A allele of the TNF-alpha-308G > A gene polymorphism and the presence of α2-thal3. 7 kb were associated with an increase risk of splenic sequestration events (p =. 001; p =. 046), while the T allele of the IL-8-251A > T gene polymorphism was considered to be a protective factor for splenomegaly events (p =. 032).", "output": {"entities": {"gene": [{"text": "IL-8", "start": 210, "end": 214}], "disease": [{"text": "splenomegaly", "start": 287, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "We found decreased IGFBP-2 expression in bipolar disorder patients compared with controls; this was especially pronounced in subjects not treated with lithium.", "output": {"entities": {"gene": [{"text": "IGFBP-2", "start": 19, "end": 26}], "disease": [{"text": "bipolar disorder", "start": 41, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGFBP-2", "start": 19, "end": 26}, "tail": {"text": "bipolar disorder", "start": 41, "end": 57}}]}}, "schema": []}
{"input": "Risk factors that modulate the development of breast cancer discussed in this review include: age, geographic location (country of origin) and socioeconomic status, reproductive events, exogenous hormones, lifestyle risk factors (alcohol, diet, obesity and physical activity), familial history of breast cancer, mammographic density, history of benign breast disease, ionizing radiation, bone density, height, IGF-1 and prolactin levels, chemopreventive agents.", "output": {"entities": {"gene": [{"text": "IGF", "start": 410, "end": 413}], "disease": [{"text": "mammographic density", "start": 312, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "We analyzed chromosomal, numerical, and structural changes after development of MDR, alterations in p53 and PTEN, single nucleotide polymorphisms (SNPs) in the mdr1 gene and corresponding protein expression of P-glycoprotein (P-gp) in three human MDR cancer cell lines: non-small cell lung carcinoma NCI-H460/R, colorectal carcinoma DLD1-TxR, and glioma U87-TxR.", "output": {"entities": {"gene": [{"text": "U87", "start": 354, "end": 357}], "disease": [{"text": "glioma", "start": 347, "end": 353}]}, "relations": {}}, "schema": []}
{"input": "It was shown that mRNA isoforms for IGF-1A and IGF-1B were mainly expressed in samples with hyperexpression of YB-1 mRNA, and, on the contrary, practically were not expressed (except sporadic cases) in samples with low level of YB-1 mRNA expression.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 111, "end": 115}], "disease": [{"text": "sporadic", "start": 183, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "The COL1A1/PDGFB translocation was detected in 93% of DFSP.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 4, "end": 10}], "disease": [{"text": "translocation", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "The Ca (2 +)-activated Cl (-) channel, ANO1 (TMEM16A), is a double-edged sword in cell proliferation and tumorigenesis.", "output": {"entities": {"gene": [{"text": "TMEM16A", "start": 45, "end": 52}], "disease": [{"text": "tumorigenesis", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, MNU suppressed cell proliferation of MGMT-/hMLH1 + gallbladder carcinoma cells by arresting the cell cycle at the G2-M phase, accompanied by down-regulation of cyclin A and Cdc2.", "output": {"entities": {"gene": [{"text": "cyclin A", "start": 175, "end": 183}], "disease": [{"text": "gallbladder carcinoma", "start": 66, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Depletion of geminin led to overreplication and the formation of giant nuclei in cells that had wild-type or mutant p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 116, "end": 119}], "disease": [{"text": "giant", "start": 65, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Pin1 induction during liver fibrosis is involved in hepatic stellate cell activation, TGFβ1 expression, and TGFβ1-mediated fibrogenesis signalling.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 0, "end": 4}], "disease": [{"text": "liver fibrosis", "start": 22, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "These responses are abrogated by inhibiting hypoxia-inducible transcription factor (HIF)-1α, indicating a causal role for this transcription factor in regulating Ntn1 and Unc5b expression in macrophages.", "output": {"entities": {"gene": [{"text": "Ntn1", "start": 162, "end": 166}], "disease": [{"text": "hypoxia", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Because TRPV1 and TRPA1 channels play important roles in controlling hyperalgesia in inflammatory pain models, we investigated their modulation by WIN and AM1241.", "output": {"entities": {"gene": [{"text": "TRPA1", "start": 18, "end": 23}], "disease": [{"text": "hyperalgesia", "start": 69, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPA1", "start": 18, "end": 23}, "tail": {"text": "hyperalgesia", "start": 69, "end": 81}}]}}, "schema": []}
{"input": "The link of MUC1 to cell motility was further confirmed by the finding that depletion of MUC1 resulted in reduced expression of MMP13 and cell migration, invasion and adhesion.", "output": {"entities": {"gene": [{"text": "MMP13", "start": 128, "end": 133}], "disease": [{"text": "adhesion", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "A time course after infection of TPA-arrested cells using a c-Myc-expressing adenovirus revealed that the inhibition of p21 expression preceded entry into S-phase.", "output": {"entities": {"gene": [{"text": "TPA", "start": 33, "end": 36}], "disease": [{"text": "adenovirus", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the regulation of sPLA2 secretion by two other members of the IL-6 cytokine family, oncostatin M (OSM) and leukaemia inhibitory factor (LIF), and the corticosteroid dexamethasone were investigated.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 40, "end": 45}], "disease": [{"text": "leukaemia", "start": 129, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "There was no significant difference in both immunostainings for overexpression among the three histological subtypes of MM and the expression of CD146 and IMP3 was proportionally associated.", "output": {"entities": {"gene": [{"text": "IMP3", "start": 155, "end": 159}], "disease": [{"text": "MM", "start": 120, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IMP3", "start": 155, "end": 159}, "tail": {"text": "MM", "start": 120, "end": 122}}]}}, "schema": []}
{"input": "The objective of this study was to clarify the expression and epigenetic regulation of DLEC1, a candidate tumor suppressor gene (TSG) located at 3p21. 3-p22, in oral squamous cell carcinoma (OSCC) and the clinical relevance of its down-expression.", "output": {"entities": {"gene": [{"text": "p22", "start": 153, "end": 156}], "disease": [{"text": "squamous cell carcinoma", "start": 166, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Despite our study being sufficiently powered to detect effects similar to those previously reported, none of the FTO SNPs were found to be associated with obesity, overweight, BMI, waist circumference, or body fat percentage.", "output": {"entities": {"gene": [{"text": "FTO", "start": 113, "end": 116}], "disease": [{"text": "overweight", "start": 164, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Together, these findings suggest that the TGF-beta superfamily is part of an autocrine/paracrine system involved in the regulation of COX-2 expression in the distal pulmonary circulation, and this modulates hypoxia-induced pulmonary vascular cell proliferation.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 42, "end": 50}], "disease": [{"text": "hypoxia", "start": 207, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Using specific antibodies, we studied specimens from 35 cases of ureteropelvic junction obstruction and 32 of normal ureteropelvic junction by immunohistochemistry using protein gene product 9. 5 (a general neuronal marker), S100 (a supporting cell marker), synaptophysin (a neuromuscular junction marker) and nerve growth factor receptor.", "output": {"entities": {"gene": [{"text": "nerve growth factor receptor", "start": 310, "end": 338}], "disease": [{"text": "ureteropelvic junction obstruction", "start": 65, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Patients with regressive autism had significantly higher percentages of 18: 0, 18: 2n-6 and total saturates in their RBC membranes compared to controls, while 24: 0, 22: 5n-6, 24: 1 and the 20: 4n-6/20: 5n-3 ratio were significantly higher in both regressive autism and ASP groups compared to controls.", "output": {"entities": {"gene": [{"text": "ASP", "start": 270, "end": 273}], "disease": [{"text": "autism", "start": 25, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The multivariate model showed associations of rs1801278 in IRS1 (P = 0. 029, OR = 0. 13), baseline viral load (P = 0. 006; OR = 4. 453) and baseline glucose levels (P = 0. 008, OR = 0. 926) with loss of limb fat, and rs2228671 in LDLR (P = 0. 012, OR = 0. 108), rs405509 in APOE (P = 0. 048, OR = 0. 205), baseline viral load (P = 0. 005, OR = 0. 186) and baseline CD4 + T cell count (P = 0. 01, OR = 1. 008) with gain of trunk fat.", "output": {"entities": {"gene": [{"text": "IRS1", "start": 59, "end": 63}], "disease": [{"text": "viral load", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Here, we found that either genetic or pharmacological blockade of properdin, which we expected to be therapeutic, converted the mild C3 GN of an fH-mutant mouse to a lethal C3 GN with features of human dense deposit disease.", "output": {"entities": {"gene": [{"text": "properdin", "start": 66, "end": 75}], "disease": [{"text": "mild", "start": 128, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Although both hepatocyte growth factor (HGF) and vascular endothelial growth factor (VEGF) are potent angiogenic growth factors in animal models of ischemia, their characteristics are not the same in animal experiments and clinical trials.", "output": {"entities": {"gene": [{"text": "HGF", "start": 40, "end": 43}], "disease": [{"text": "ischemia", "start": 148, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Genetic variants in Cell Adhesion Molecule 1 (CADM1): a validation study of a novel endothelial cell venous thrombosis risk factor.", "output": {"entities": {"gene": [{"text": "CADM1", "start": 46, "end": 51}], "disease": [{"text": "venous thrombosis", "start": 101, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "EMT induction was found to occur in hypoxic HCC cells in a process that was dependent on the extracellular release of netrin-1.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 118, "end": 126}], "disease": [{"text": "hypoxic", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We conducted brain slice assays using U87-MG human glioma cells in which PTPµ expression was reduced by shRNA to induce migration.", "output": {"entities": {"gene": [{"text": "U87", "start": 38, "end": 41}], "disease": [{"text": "glioma", "start": 51, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "No tumours with EGFR mutations had any K-ras codon 12 mutations, which were well-known smoking-related gene mutations.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 16, "end": 20}], "disease": [{"text": "smoking", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Pretreatment with infliximab, a blocking antibody for TNF-α, almost completely abolished the airway changes seen after LPS inhalation.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 54, "end": 59}], "disease": [{"text": "inhalation", "start": 123, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We found that HN3 and FaDu cells expressed strongly phosphorylated STAT3 on both tyrosine 705 and serine 727 residues as compared to other SCCHN cells.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 67, "end": 72}], "disease": [{"text": "SCCHN", "start": 139, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT3", "start": 67, "end": 72}, "tail": {"text": "SCCHN", "start": 139, "end": 144}}]}}, "schema": []}
{"input": "Overexpression of EMMPRIN, a member of the immunoglobulin superfamily, promotes invasion, metastasis, growth and survival of malignant cells.", "output": {"entities": {"gene": [{"text": "EMMPRIN", "start": 18, "end": 25}], "disease": [{"text": "metastasis", "start": 90, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EMMPRIN", "start": 18, "end": 25}, "tail": {"text": "metastasis", "start": 90, "end": 100}}]}}, "schema": []}
{"input": "After 3 weeks, the mice were moved to a hypoxic chamber (10% oxygen) for 3, 12, 24, 48, 96, or 144 h. The expressions of HIF-1alpha, COX-2, and VEGF in vivo were then analyzed by Northern blot and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 144, "end": 148}], "disease": [{"text": "hypoxic", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "These recent observations provide new insights into the relationship between alterations in cell polarity components and EMT in cancer, opening new avenues for their potential use as therapeutic targets to prevent tumour progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 121, "end": 124}], "disease": [{"text": "tumour progression", "start": 214, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of the v-Myb avian myeloblastosis viral oncogene homolog-like2 B-Myb (MYBL2) gene occurs in human hepatocellular carcinoma (HCC) and is associated with faster progression of rodent hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "v-Myb avian myeloblastosis viral oncogene homolog", "start": 21, "end": 70}], "disease": [{"text": "hepatocarcinogenesis", "start": 195, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "In contrast to downregulated OATP1B1, OATP1B3, OATP1A2 and OATP2B1 in cancerous vs. non-cancerous samples, an increase in OATP2A1, OATP3A1, OATP4A1 and OATP5A1 mRNA levels was seen in tumors (up to 40-fold for OATP5A1 in the MLT group).", "output": {"entities": {"gene": [{"text": "OATP3A1", "start": 131, "end": 138}], "disease": [{"text": "tumors", "start": 184, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Finally, A3D8 induces apoptosis in all-trans-retinoic acid-resistant NB4-derived cells and in APL primary blasts, characterizing the A3D8 anti-CD44 mAb as a novel class of apoptosis-inducing agent in APL.", "output": {"entities": {"gene": [{"text": "CD44", "start": 143, "end": 147}], "disease": [{"text": "APL", "start": 94, "end": 97}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CD44", "start": 143, "end": 147}, "tail": {"text": "APL", "start": 94, "end": 97}}]}}, "schema": []}
{"input": "In general, \" mit-\" mutations are responsible for non-RRF encephalopathies, while \" syn-\" and \" rho-\" mutations are associated with mitochondrial encephalomyopathies with RRF.", "output": {"entities": {"gene": [{"text": "RRF", "start": 54, "end": 57}], "disease": [{"text": "mitochondrial encephalomyopathies", "start": 132, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Expression of HIF-1 alpha, VEGF and EPO in peripheral blood from patients with two cardiac abnormalities associated with hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 27, "end": 31}], "disease": [{"text": "hypoxia", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "On the contrary, the RER + phenotype was not detected in serous carcinomas and malignant mixed Müllerian tumors.", "output": {"entities": {"gene": [{"text": "RER", "start": 21, "end": 24}], "disease": [{"text": "carcinomas", "start": 64, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The current study investigates the role of cerebral peroxisome proliferator-activated receptor (s) gamma (PPARgamma) in the regulation of IL-6 expression in the peri-infarct cortical tissue in rats exposed to focal cerebral ischaemia.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor", "start": 52, "end": 94}], "disease": [{"text": "infarct", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the genes that encode the two proteins that coordinate this electrochemical conversion process (the DHPR and RyR1) result in a variety of skeletal muscle disorders including malignant hyperthermia (MH), central core disease (CCD), multiminicore disease, nemaline rod myopathy, and hypokalemic periodic paralysis.", "output": {"entities": {"gene": [{"text": "DHPR", "start": 113, "end": 117}], "disease": [{"text": "hypokalemic periodic paralysis", "start": 294, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "Two novel mutations within the coding region of the NDP gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR.", "output": {"entities": {"gene": [{"text": "NDP", "start": 52, "end": 55}], "disease": [{"text": "Norrie disease", "start": 124, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDP", "start": 52, "end": 55}, "tail": {"text": "Norrie disease", "start": 124, "end": 138}}]}}, "schema": []}
{"input": "Eight FUS mutation carriers were identified in five SALS (1%) and three FALS (7. 5%), five already known and three new mutations: a de novo mutation was identified in a sporadic subject as well as the co-presence of FUS/C9ORF72 mutations in a FALS subject.", "output": {"entities": {"gene": [{"text": "FUS", "start": 6, "end": 9}], "disease": [{"text": "sporadic", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.", "output": {"entities": {"gene": [{"text": "CPT1A", "start": 92, "end": 97}], "disease": [{"text": "breast tumors", "start": 212, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CPT1A", "start": 92, "end": 97}, "tail": {"text": "breast tumors", "start": 212, "end": 225}}]}}, "schema": []}
{"input": "Loss of CDKN2B promotes p53-dependent smooth muscle cell apoptosis and aneurysm formation.", "output": {"entities": {"gene": [{"text": "CDKN2B", "start": 8, "end": 14}], "disease": [{"text": "aneurysm", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The latter process should, however, be expected to occur since the hypoxic cores of tumor cell aggregates, under the control of HIF-1, are known to secrete cytokines (e. g., bFGF, VEGF) which attract fibroblasts and induce blood vessel formation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 180, "end": 184}], "disease": [{"text": "hypoxic", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In addition, resveratrol repressed nuclear factor kappa B (NF-& #954; B) activation and down-regulated mRNA expression of urokinase plasminogen activator (uPA) and its receptor in TNF-& #945;-treated glioma cells.", "output": {"entities": {"gene": [{"text": "TNF", "start": 180, "end": 183}], "disease": [{"text": "glioma", "start": 200, "end": 206}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 180, "end": 183}, "tail": {"text": "glioma", "start": 200, "end": 206}}]}}, "schema": []}
{"input": "The totality of the evidence currently implicates GPx1, GPx4, SEPS1, Sep15, SEPP1 and TXNRD1 in conditions such as cardiovascular disease, pre-eclampsia and cancer.", "output": {"entities": {"gene": [{"text": "SEPP1", "start": 76, "end": 81}], "disease": [{"text": "pre-eclampsia", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 96, "end": 101}], "disease": [{"text": "Dejerine-Sottas disease", "start": 30, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 96, "end": 101}, "tail": {"text": "Dejerine-Sottas disease", "start": 30, "end": 53}}]}}, "schema": []}
{"input": "A mutation has been identified in the Rab3A-interacting molecule (RIM1) gene in CORD7, an autosomal dominant cone-rod dystrophy that localises to chromosome 6q14.", "output": {"entities": {"gene": [{"text": "Rab3A", "start": 38, "end": 43}], "disease": [{"text": "cone-rod dystrophy", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "This review discusses the regulation of CCN2 by TGF-β and hypoxia, two critical determinants that characterize the disc microenvironment, and discusses known functions of CCN2 in the disc.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 48, "end": 53}], "disease": [{"text": "hypoxia", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "However, some patients with the classical XLI phenotype and complete STS deficiency do not show any detectable deletions by Southern blot analysis using full-length STS cDNA as a probe.", "output": {"entities": {"gene": [{"text": "STS", "start": 69, "end": 72}], "disease": [{"text": "XLI", "start": 42, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STS", "start": 69, "end": 72}, "tail": {"text": "XLI", "start": 42, "end": 45}}]}}, "schema": []}
{"input": "This weight increase was associated with a 20% decrease in ACE2 activity in the thrombus.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 59, "end": 63}], "disease": [{"text": "weight increase", "start": 5, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "CALM-AF10 mice infected with the MOL4070LTR retrovirus developed acute leukemia, and ligation-mediated polymerase chain reaction was used to identify retroviral insertions at 19 common insertion sites, including Zeb2, Nf1, Mn1, Evi1, Ift57, Mpl, Plag1, Kras, Erg, Vav1, and Gata1.", "output": {"entities": {"gene": [{"text": "Zeb2", "start": 212, "end": 216}], "disease": [{"text": "acute leukemia", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The enhanced VEGF gene transcription in TAMR-MCF-7 cells was suppressed by amurensin G. Molecular analyses using reporter genes with hypoxia response elements and activator protein-1 (AP-1) elements, and western blots revealed that the activities and the nuclear levels of hypoxia inducible factor-1 (HIF-1) α and AP-1 in TAMR-MCF-7 cells were decreased by amurensin G. Moreover, amurensin G concentration-dependently inhibited protein expression and gene transcription of Pin1 in TAMR-MCF-7 cells, which was dependent on E2F1 inhibition.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 13, "end": 17}], "disease": [{"text": "hypoxia", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Three of the nine genes (VEGF, PAI-1, and LRP1) had been reported previously as pVHL targets and are known to be hypoxia-inducible.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 25, "end": 29}], "disease": [{"text": "hypoxia", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Screening of a panel of 57 autosomal-recessive AI-affected families identified eight further families with loss-of-function mutations in C4orf26.", "output": {"entities": {"gene": [{"text": "C4orf26", "start": 137, "end": 144}], "disease": [{"text": "AI", "start": 47, "end": 49}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C4orf26", "start": 137, "end": 144}, "tail": {"text": "AI", "start": 47, "end": 49}}]}}, "schema": []}
{"input": "We establish that the MEK-ERK signaling cascade regulates both SPC-induced keratin phosphorylation and reorganization in human pancreatic and gastric cancer cells and identify Ser431 in keratin 8 as the crucial residue whose phosphorylation is required and sufficient to induce keratin reorganization and consequently enhanced migration of human epithelial tumor cells.", "output": {"entities": {"gene": [{"text": "SPC", "start": 63, "end": 66}], "disease": [{"text": "gastric cancer", "start": 142, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We believe that our discovery of the role of Alox5 in regulating the function of LSCs in CML reminds us of viewing CSCs at a different angel.", "output": {"entities": {"gene": [{"text": "Alox5", "start": 45, "end": 50}], "disease": [{"text": "CML", "start": 89, "end": 92}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Alox5", "start": 45, "end": 50}, "tail": {"text": "CML", "start": 89, "end": 92}}]}}, "schema": []}
{"input": "Here we examined the role of ASC in tumorigenesis of human melanoma.", "output": {"entities": {"gene": [{"text": "ASC", "start": 29, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Annexin V staining revealed absence of apoptotic or necrotic cell populations after genistein treatment.", "output": {"entities": {"gene": [{"text": "Annexin V", "start": 0, "end": 9}], "disease": [{"text": "necrotic", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Hypoxic TSP1 null mice developed less right ventricular pressure and hypertrophy and markedly less arteriole muscularization compared with wild-type animals.", "output": {"entities": {"gene": [{"text": "TSP1", "start": 8, "end": 12}], "disease": [{"text": "hypertrophy", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Female carriers of the deletion were affected with myopia and had ERG abnormalities and mild constriction of visual field.", "output": {"entities": {"gene": [{"text": "ERG", "start": 66, "end": 69}], "disease": [{"text": "abnormalities", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "EGFR and gastrointestinal stromal tumor: an immunohistochemical and FISH study of 82 cases.", "output": {"entities": {"gene": [{"text": "FISH", "start": 68, "end": 72}], "disease": [{"text": "gastrointestinal stromal tumor", "start": 9, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In obese subjects, NOS3 4a (P = 0. 011) had a converse effect to NOS3 894T (P = 0. 043), and EDN1 8002T (P = 0. 035) on the prevalence of combined microangiopathy (neuropathy/retinopathy/nephropathy) vs. microangiopathy-negative subjects.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 19, "end": 23}], "disease": [{"text": "microangiopathy", "start": 147, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "VEGF is induced in response to various stimuli including hypoxia; however, very little is known about the mechanisms that confine its induction to ensure proper angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Autoimmune hepatitis (AIH) is a rare disease, characterized by female predominance, hypergammaglobulinemia, autoantibodies, association with HLA DR3 and HLA DR4 and a good response to immunosuppression.", "output": {"entities": {"gene": [{"text": "DR3", "start": 145, "end": 148}], "disease": [{"text": "hypergammaglobulinemia", "start": 84, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "DNA sequencing and fluorescent in situ hybridization with a MEN1 genomic DNA sequence probe each demonstrated one copy of the MEN1 gene to be deleted in the pituitary tumor and not in normal DNA, proving MEN1 \" second hit \" as a tumor cause.", "output": {"entities": {"gene": [{"text": "MEN1 gene", "start": 126, "end": 135}], "disease": [{"text": "hit", "start": 218, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Homology to other CYP450 proteins suggests that CYP4V2 may have a role in fatty acid and steroid metabolism, consistent with biochemical studies of patients with BCD.", "output": {"entities": {"gene": [{"text": "CYP4V2", "start": 48, "end": 54}], "disease": [{"text": "BCD", "start": 162, "end": 165}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP4V2", "start": 48, "end": 54}, "tail": {"text": "BCD", "start": 162, "end": 165}}]}}, "schema": []}
{"input": "DISC1, a promising candidate susceptibility gene, encodes a protein which interacts with many other proteins, including CIT, NDEL1, NDE1, FEZ1 and PAFAH1B1, some of which also have been associated with psychosis.", "output": {"entities": {"gene": [{"text": "NDE1", "start": 132, "end": 136}], "disease": [{"text": "psychosis", "start": 202, "end": 211}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDE1", "start": 132, "end": 136}, "tail": {"text": "psychosis", "start": 202, "end": 211}}]}}, "schema": []}
{"input": "In GC, mRNA expression of Mst1, Lats1, Oct4, YAP1, TAZ, TEAD1 and CDX2 had a close correlation with lymphatic metastasis and tumor TNM stage (all P < 0. 01).", "output": {"entities": {"gene": [{"text": "Oct4", "start": 39, "end": 43}], "disease": [{"text": "lymphatic metastasis", "start": 100, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.", "output": {"entities": {"gene": [{"text": "HTR1B", "start": 135, "end": 140}], "disease": [{"text": "depression", "start": 48, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HTR1B", "start": 135, "end": 140}, "tail": {"text": "depression", "start": 48, "end": 58}}]}}, "schema": []}
{"input": "Active cdc2 accumulates in neurons containing neurofibrillary tangles (NFT), a process that can precede the formation of NFT.", "output": {"entities": {"gene": [{"text": "cdc2", "start": 7, "end": 11}], "disease": [{"text": "neurofibrillary tangles", "start": 46, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Recently, Sox2 has been detected in several human tumors, indicating a potential function in tumorigenesis.", "output": {"entities": {"gene": [{"text": "Sox2", "start": 10, "end": 14}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Similarly, NET-KO mice displayed higher resistance to convulsions engendered by kainic acid.", "output": {"entities": {"gene": [{"text": "NET", "start": 11, "end": 14}], "disease": [{"text": "convulsions", "start": 54, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NET", "start": 11, "end": 14}, "tail": {"text": "convulsions", "start": 54, "end": 65}}]}}, "schema": []}
{"input": "Therefore, decreased function of CREB in the central nucleus of the amygdala might regulate anxiety and alcohol intake via decreased expression of NPY, and might provide a common link between anxiety and alcohol abuse disorders.", "output": {"entities": {"gene": [{"text": "NPY", "start": 147, "end": 150}], "disease": [{"text": "alcohol abuse", "start": 204, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY", "start": 147, "end": 150}, "tail": {"text": "alcohol abuse", "start": 204, "end": 217}}]}}, "schema": []}
{"input": "There was moderate statistical evidence for interactions for other shoulder pain phenotypes between additional genes (ADRB2, AVPR1 & #160; A, and KCNS1) and depressive symptoms, pain catastrophizing, or kinesiophobia.", "output": {"entities": {"gene": [{"text": "KCNS1", "start": 146, "end": 151}], "disease": [{"text": "depressive symptoms", "start": 157, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCNS1", "start": 146, "end": 151}, "tail": {"text": "depressive symptoms", "start": 157, "end": 176}}]}}, "schema": []}
{"input": "DFSP is characterized by a chromosomal translocation involving the collagen type I a 1 (COL1A1) gene on chromosome 17 and the platelet-derived growth factor B-chain (PDGFB) gene on chromosome 22.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 88, "end": 94}], "disease": [{"text": "chromosomal translocation", "start": 27, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.", "output": {"entities": {"gene": [{"text": "pigment epithelium-derived factor", "start": 482, "end": 515}], "disease": [{"text": "keloid", "start": 84, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pigment epithelium-derived factor", "start": 482, "end": 515}, "tail": {"text": "keloid", "start": 84, "end": 90}}]}}, "schema": []}
{"input": "We report the establishment of three relational locus-specific databases recording allelic variation at the HEXA, HEXB, and GM2A genes and accessed at the GM2 gangliosidoses home page (http://data. mch. mcgill. ca/gm2-gangliosidoses).", "output": {"entities": {"gene": [{"text": "GM2A", "start": 124, "end": 128}], "disease": [{"text": "gangliosidoses", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) is a rare autosomal recessive disorder caused by a defect in neurotrophic tyrosine kinase receptor and nerve growth factor, as reported in previous studies.", "output": {"entities": {"gene": [{"text": "tyrosine kinase receptor", "start": 177, "end": 201}], "disease": [{"text": "autonomic neuropathy", "start": 73, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Danon disease is a rare X-linked lysosomal disease causing severe hypertrophic cardiomyopathy (LAMP2 cardiomyopathy) and an extremely poor prognosis in males, with several reported cases of sudden cardiac death despite the use of transvenous implantable cardioverter defibrillators (TV-ICD).", "output": {"entities": {"gene": [{"text": "LAMP2", "start": 95, "end": 100}], "disease": [{"text": "sudden cardiac death", "start": 190, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that treatment of human glioma U87-MG cells expressing wild-type p53 with a DNA topoisomerase II inhibitor, etoposide resulted in ceramide-dependent apoptotic cell death.", "output": {"entities": {"gene": [{"text": "U87", "start": 56, "end": 59}], "disease": [{"text": "glioma", "start": 49, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Alteration of purinergic P2X4 and P2X7 receptor expression in rats with temporal-lobe epilepsy induced by pilocarpine.", "output": {"entities": {"gene": [{"text": "P2X7 receptor", "start": 34, "end": 47}], "disease": [{"text": "temporal-lobe epilepsy", "start": 72, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P2X7 receptor", "start": 34, "end": 47}, "tail": {"text": "temporal-lobe epilepsy", "start": 72, "end": 94}}]}}, "schema": []}
{"input": "Collectively, these findings indicate that MMP7-catalyzed release of HBEGF mediates ACh-induced transactivation of EGFR and consequent proliferation of colon cancer cells.", "output": {"entities": {"gene": [{"text": "HBEGF", "start": 69, "end": 74}], "disease": [{"text": "colon cancer", "start": 152, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In summary, the results of the present study reveal that Pyk2 plays an important role in the pathogenesis of hypoxia-induced PH.", "output": {"entities": {"gene": [{"text": "Pyk2", "start": 57, "end": 61}], "disease": [{"text": "hypoxia", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The results show that people with schizophrenia had significantly less PPIA and SDHA mRNA and tended to have less GUSB and B2M mRNA, suggesting that these control genes may not be good candidates for normalization.", "output": {"entities": {"gene": [{"text": "PPIA", "start": 71, "end": 75}], "disease": [{"text": "schizophrenia", "start": 34, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPIA", "start": 71, "end": 75}, "tail": {"text": "schizophrenia", "start": 34, "end": 47}}]}}, "schema": []}
{"input": "In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract.", "output": {"entities": {"gene": [{"text": "CRYBB1", "start": 125, "end": 131}], "disease": [{"text": "nuclear pulverulent cataract", "start": 203, "end": 231}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRYBB1", "start": 125, "end": 131}, "tail": {"text": "nuclear pulverulent cataract", "start": 203, "end": 231}}]}}, "schema": []}
{"input": "Hereditary inclusion body myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult-onset, slowly progressive distal and proximal muscle weakness, which is caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme in the biosynthetic pathway of sialic acid.", "output": {"entities": {"gene": [{"text": "GNE", "start": 269, "end": 272}], "disease": [{"text": "proximal muscle weakness", "start": 147, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Although a significant role of TLR3/TLR4 in neurodegeneration is gaining certainty, their importance in establishing a causal link between prenatal infection and immuno-inflammatory, oxidative and nitrosative stress (IO & NS) responses and influence on adult presentation of schizophrenia is yet to be ascertained.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 36, "end": 40}], "disease": [{"text": "schizophrenia", "start": 275, "end": 288}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR4", "start": 36, "end": 40}, "tail": {"text": "schizophrenia", "start": 275, "end": 288}}]}}, "schema": []}
{"input": "Virus-specific memory CD8 T cells provide substantial protection from lethal severe acute respiratory syndrome coronavirus infection.", "output": {"entities": {"gene": [{"text": "CD8", "start": 22, "end": 25}], "disease": [{"text": "coronavirus infection", "start": 111, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Human neuropeptide Y signal peptide gain-of-function polymorphism is associated with increased body mass index: possible mode of function.", "output": {"entities": {"gene": [{"text": "neuropeptide Y", "start": 6, "end": 20}], "disease": [{"text": "body mass index", "start": 95, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "This suggests that Dgcr8-microRNA-Drd2-dependent thalamocortical disruption is a pathogenic event underlying schizophrenia-associated psychosis.", "output": {"entities": {"gene": [{"text": "Dgcr8", "start": 19, "end": 24}], "disease": [{"text": "psychosis", "start": 134, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dgcr8", "start": 19, "end": 24}, "tail": {"text": "psychosis", "start": 134, "end": 143}}]}}, "schema": []}
{"input": "In univariate analyses, age (≥ 10 years), white blood cell counts (> 100 × 10 (9)/l), t (9; 22) (q34; q11), MLL rearrangements, near-haploidy and deletions of ATP10A, IKZF1, SPRED1 and the pseudoautosomal 1 regions on Xp/Yp were significantly associated with decreased 10-year event-free survival, with IKZF1 abnormalities being an independent risk factor in multivariate analysis irrespective of the risk group.", "output": {"entities": {"gene": [{"text": "IKZF1", "start": 167, "end": 172}], "disease": [{"text": "abnormalities", "start": 309, "end": 322}]}, "relations": {}}, "schema": []}
{"input": "Gene regulated in breast cancer 1 (GREB1) is a novel estrogen-regulated gene shown to play a pivotal role in hormone-stimulated breast cancer growth.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 53, "end": 76}], "disease": [{"text": "breast cancer", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "We previously investigated the DCK gene in multiple GEM resistant cancer cell lines and identified frequent inactivating mutations.", "output": {"entities": {"gene": [{"text": "GEM", "start": 52, "end": 55}], "disease": [{"text": "resistant cancer", "start": 56, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of HOXD9 in gliomas, we silenced its expression in the glioma cell line U87 using HOXD9-specific siRNA, and observed decreased cell proliferation, cell cycle arrest, and induction of apoptosis.", "output": {"entities": {"gene": [{"text": "U87", "start": 96, "end": 99}], "disease": [{"text": "glioma", "start": 36, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 72, "end": 78}], "disease": [{"text": "DEND", "start": 51, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ11", "start": 72, "end": 78}, "tail": {"text": "DEND", "start": 51, "end": 55}}]}}, "schema": []}
{"input": "Only two primary FLs and two diffuse large BCL showed bcl6 somatic mutation.", "output": {"entities": {"gene": [{"text": "bcl6", "start": 54, "end": 58}], "disease": [{"text": "somatic mutation", "start": 59, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that genetic variability in the leptin receptor and neuropeptide Y genes is implicated in body weight regulation, the LEPR Gln223Arg variant being associated with a BMI increase in this Caucasian population, especially in non-smokers, while the NPY Leu7Pro polymorphism was associated with BMI reduction in premenopausal women.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 139, "end": 143}], "disease": [{"text": "body weight", "start": 111, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We showed that: (1) the hybrid called HGF-X7, which contained 1502 base pairs of intron 4, could drive a higher level of HGF expression than other hybrid constructs and cDNAs of each isoform alone; (2) the pCK vector was most efficient for the gene expression of HGF-X7; (3) coexpression of both isoforms of HGF could more efficiently induce the migration of human umbilical vein endothelial cell (HUVEC) and of the mouse myoblast cell line C₂C₁₂ myoblasts than a single isoform of HGF and human vascular endothelial growth factor (VEGF) ₁₆₅ at a given concentration; (4) intramuscular administration of pCK-HGF-X7 resulted in transient and localized HGF expression in the injected muscle without an increase in the HGF protein levels in other tissues including serum; and (5) intramuscular injection of pCK-HGF-X7 could more efficiently increase the number of angiographically recognizable collateral vessels, as well as improve an intra-arterial Doppler wire-measured blood flow in the rabbit model of hindlimb ischemia when compared with the identical vector encoding VEGF₁₆₅ gene.", "output": {"entities": {"gene": [{"text": "HGF", "start": 38, "end": 41}], "disease": [{"text": "ischemia", "start": 1013, "end": 1021}]}, "relations": {}}, "schema": []}
{"input": "Moreover, secretion of VEGF and MMP-2 in normoxic and hypoxic BxPC-3 and PanC-1 cells was significantly suppressed by BITC.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 23, "end": 27}], "disease": [{"text": "hypoxic", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Na (+)/monocarboxylate transport (SMCT) protein expression correlates with survival in colon cancer: molecular characterization of SMCT.", "output": {"entities": {"gene": [{"text": "SMCT", "start": 34, "end": 38}], "disease": [{"text": "colon cancer", "start": 87, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMCT", "start": 34, "end": 38}, "tail": {"text": "colon cancer", "start": 87, "end": 99}}]}}, "schema": []}
{"input": "The JAK2-V617F mutation occurs in about 50% of patients with myelofibrosis and might be a reliable marker to monitor residual disease after allogeneic stem cell transplantation.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 4, "end": 8}], "disease": [{"text": "residual disease", "start": 117, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The MutY homolog (MUTYH, MYH) is one of the key proteins in the BER pathway, but the role of MYH in the tumorigenesis of CCA is largely unknown.", "output": {"entities": {"gene": [{"text": "MYH", "start": 25, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Identification of SP5 as a downstream gene of the beta-catenin/Tcf pathway and its enhanced expression in human colon cancer.", "output": {"entities": {"gene": [{"text": "SP5", "start": 18, "end": 21}], "disease": [{"text": "colon cancer", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Blocking DR6 function represents a new approach for the treatment of neurodegenerative disorders involving motor neuron death and axon degeneration, such as ALS.", "output": {"entities": {"gene": [{"text": "DR6", "start": 9, "end": 12}], "disease": [{"text": "ALS", "start": 157, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DR6", "start": 9, "end": 12}, "tail": {"text": "ALS", "start": 157, "end": 160}}]}}, "schema": []}
{"input": "To determine whether PRDX4 was involved in other translocations, leukemia cells from 15 patients with Xp22 abnormalities were screened for involvement of the gene using fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 205, "end": 209}], "disease": [{"text": "leukemia", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Of all these strains, Rdh8 (-/-) Abca4 (-/-) mice with a mixed rod-cone population showed the most severe retinal degeneration under regular cyclic light conditions.", "output": {"entities": {"gene": [{"text": "Abca4", "start": 33, "end": 38}], "disease": [{"text": "retinal degeneration", "start": 106, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.", "output": {"entities": {"gene": [{"text": "POLG1", "start": 44, "end": 49}], "disease": [{"text": "occipital lobe epilepsy", "start": 8, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Here we have used HeLa carcinoma cells as a model system for investigating the role of tissue transglutaminase (TGase), a protein that has been linked to oncogenesis, in EGF-stimulated cancer cell migration and invasion.", "output": {"entities": {"gene": [{"text": "TGase", "start": 112, "end": 117}], "disease": [{"text": "carcinoma", "start": 23, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Reverse transcriptase polymerase chain reaction (rtPCR) assays show abundant non-transactivating p63 RNA, and little to no transactivating p63 RNA, in human basal cell carcinoma as well as in normal skin adjacent to the tumors.", "output": {"entities": {"gene": [{"text": "p63", "start": 97, "end": 100}], "disease": [{"text": "basal cell carcinoma", "start": 157, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In other patients, congenital neutropenia is not an isolated finding but is associated with other abnormalities, in particular, lymphoid immunodeficiency and pigmentation defects such as Chédiak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2, or deficiency of the endosomal adaptor p14.", "output": {"entities": {"gene": [{"text": "p14", "start": 313, "end": 316}], "disease": [{"text": "immunodeficiency", "start": 137, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Previously, we have reported that pigment epithelium-derived factor (PEDF) ameliorates albuminuria and inhibits matrix protein deposition in the kidney of streptozotocin (STZ)-induced diabetic rats, suggesting a renoprotective effect of PEDF in early stages of diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "STZ", "start": 171, "end": 174}], "disease": [{"text": "albuminuria", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Here we demonstrate that subretinal delivery of an adenovirus vector expressing a transgene for a soluble non-membrane binding form of human CD59 can attenuate the formation of laser-induced choroidal neovascularization and murine MAC formation in mice even when the region of vector delivery is distal to the site of laser induced CNV.", "output": {"entities": {"gene": [{"text": "CD59", "start": 141, "end": 145}], "disease": [{"text": "choroidal neovascularization", "start": 191, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "We report for the first time an association between the STAT6 G2964A 3'-UTR polymorphism and endometriosis in South Indian women.", "output": {"entities": {"gene": [{"text": "UTR", "start": 72, "end": 75}], "disease": [{"text": "endometriosis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Nonenhancing BRGs (NBRG) exhibited minimal MRI enhancement but had FLAIR-bright expansion, a newer criterion for glioblastoma recurrence since the advent of antiangiogenic therapy, and expressed integrin α5, laminin, fibronectin1, and PDGFRβ.", "output": {"entities": {"gene": [{"text": "MRI", "start": 43, "end": 46}], "disease": [{"text": "glioblastoma", "start": 113, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Variants in ASB10 were found to be significantly associated with sporadic POAG in the Pakistani population.", "output": {"entities": {"gene": [{"text": "ASB10", "start": 12, "end": 17}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Previous work has established the presence of an unbalanced chromosome abnormality [+ der (1), t (1; 7) (p11; p11)] in some therapy-associated myelodysplastic disorders.", "output": {"entities": {"gene": [{"text": "p11", "start": 105, "end": 108}], "disease": [{"text": "chromosome abnormality", "start": 60, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Tachycardia was abated (84 beats/min), weight gain was 3 kg in 1 yr, and SHBG was 102 nmol/liter.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 73, "end": 77}], "disease": [{"text": "weight gain", "start": 39, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "All studies utilized an animal model such as AQP4-knockout mice, H-Tx rats, and kaolin and L-α-lysophosphatidylcholine (LPC) stearoyl injection models of hydrocephalus.", "output": {"entities": {"gene": [{"text": "LPC", "start": 120, "end": 123}], "disease": [{"text": "hydrocephalus", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the effect of PDE4A on growth, a brain-specific isoform, PDE4A1 was overexpressed in xenografts of Daoy medulloblastoma and U87 glioblastoma cells.", "output": {"entities": {"gene": [{"text": "PDE4A", "start": 26, "end": 31}], "disease": [{"text": "medulloblastoma", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In particular, the risk for pheochromocytoma and hyperparathyroidism (HPT) in MEN 2A patients is clearly associated with the presence of the RET mutation at a specific position, i. e.", "output": {"entities": {"gene": [{"text": "HPT", "start": 70, "end": 73}], "disease": [{"text": "pheochromocytoma", "start": 28, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that catalase elevation in the heart prevents doxorubicin chronic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "catalase", "start": 26, "end": 34}], "disease": [{"text": "cardiomyopathy", "start": 87, "end": 101}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 26, "end": 34}, "tail": {"text": "cardiomyopathy", "start": 87, "end": 101}}]}}, "schema": []}
{"input": "Altered CRBP1 expression and hypermethylation are common in prostate carcinoma, although CRBP1 hypermethylation is not an early event in tumorigenesis.", "output": {"entities": {"gene": [{"text": "CRBP1", "start": 8, "end": 13}], "disease": [{"text": "tumorigenesis", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in tumor xenograft mouse models, up-regulation of VDR was seen in tumors that had the greatest regression following treatment that combined SPARC with chemotherapy.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 150, "end": 155}], "disease": [{"text": "regression", "start": 105, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "GABBR2 is a genetic factor that determines RTT-or EE-like phenotype expression depending on the variant positions.", "output": {"entities": {"gene": [{"text": "GABBR2", "start": 0, "end": 6}], "disease": [{"text": "RTT", "start": 43, "end": 46}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABBR2", "start": 0, "end": 6}, "tail": {"text": "RTT", "start": 43, "end": 46}}]}}, "schema": []}
{"input": "Attenuation of IRSp53 reduced cell proliferation of IV5 in culture dish and tumor formation in mice, which could be partly rescued by ectopically expressed human IRSp53S.", "output": {"entities": {"gene": [{"text": "IRSp53", "start": 15, "end": 21}], "disease": [{"text": "dish", "start": 67, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "For p15 no band shifts were observed for exons 1 to 2 in TGCT or testicular cancer cell lines; none of benign testicular tumors or normal control tissues demonstrated any band shifts for p15 or p16.", "output": {"entities": {"gene": [{"text": "p15", "start": 4, "end": 7}], "disease": [{"text": "testicular cancer", "start": 65, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.", "output": {"entities": {"gene": [{"text": "fibrillin-1", "start": 10, "end": 21}], "disease": [{"text": "Shprintzen-Goldberg syndrome", "start": 51, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fibrillin-1", "start": 10, "end": 21}, "tail": {"text": "Shprintzen-Goldberg syndrome", "start": 51, "end": 79}}]}}, "schema": []}
{"input": "Among the cases under study, two tumors carried novel SS18-SSX1 and SS18-SSX2 variant translocations that were allegedly created by an alternative splicing, and in additional case, an unusual translocation variant previously described by other group was found.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 73, "end": 77}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Diabetic Timp3 (-/-) mice showed increased albuminuria, increased membrane thickness and mesangial expansion.", "output": {"entities": {"gene": [{"text": "Timp3", "start": 9, "end": 14}], "disease": [{"text": "albuminuria", "start": 43, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Gene expression profiling with microarray and SAGE identifies PLUNC as a marker for hepatoid adenocarcinoma of the stomach.", "output": {"entities": {"gene": [{"text": "SAGE", "start": 46, "end": 50}], "disease": [{"text": "hepatoid adenocarcinoma", "start": 84, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported that severe pre-and post-natal growth restriction associated with insulin resistance and precocious pubarche in a woman without body asymmetry or other SRS features resulted from a balanced translocation affecting the regulation of her IGF2 gene expression.", "output": {"entities": {"gene": [{"text": "IGF2 gene", "start": 264, "end": 273}], "disease": [{"text": "insulin resistance", "start": 94, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We resequenced the genomic DNA of the EGR2, which has a specific function in the myelination of peripheral nervous system, in 543 schizophrenic patients and 554 non-psychotic controls.", "output": {"entities": {"gene": [{"text": "EGR2", "start": 38, "end": 42}], "disease": [{"text": "psychotic", "start": 165, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "We conclude, on the basis of the results recorded in this study and those in previous reports, that the pathogenesis of atypical Fabry disease is closely associated with point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 226, "end": 247}], "disease": [{"text": "Fabry disease", "start": 129, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 226, "end": 247}, "tail": {"text": "Fabry disease", "start": 129, "end": 142}}]}}, "schema": []}
{"input": "Serum adiponectin correlated positively with QUICKI and serum omentin-1 but negatively with body weight, BMI, and homeostasis model assessment of insulin resistance (HOMA-IR).", "output": {"entities": {"gene": [{"text": "omentin", "start": 62, "end": 69}], "disease": [{"text": "body weight", "start": 92, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "When tumors were tested for microsatellite instability (MSI) phenotype status or mismatch-repair protein-immunohistochemical (MMR-IHC) expression, those results also were reviewed, and LS-associated histopathologic features were documented in 38 available patients.", "output": {"entities": {"gene": [{"text": "MMR", "start": 126, "end": 129}], "disease": [{"text": "microsatellite instability", "start": 28, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The significance of this alteration to BCL2 function in translocation-carrying tumors remains to be determined.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 39, "end": 43}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "weight, height, BMI, waist circumference (WC), waist-to-hip ratio (WHR), body fat distribution (DXA), serum CRP and IL-6, insulin sensitivity/resistance indices, and IL-6 174G_C gene polymorphism, in healthy non-obese Polish subjects: 232 women (age 31. 4 +/-5. 5 years) and 199 men (age 30. 3 +/-6. 0 years).", "output": {"entities": {"gene": [{"text": "CRP", "start": 108, "end": 111}], "disease": [{"text": "waist-to-hip ratio", "start": 47, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Because Fabry disease and primary erythromelalgia share similar symptoms, it is a good strategy for clinical physicians to perform genetic mutation screenings on both SCN9A and GLA genes in those patients with limb burning pain but without a clear inheritant pattern.", "output": {"entities": {"gene": [{"text": "GLA", "start": 177, "end": 180}], "disease": [{"text": "Fabry disease", "start": 8, "end": 21}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLA", "start": 177, "end": 180}, "tail": {"text": "Fabry disease", "start": 8, "end": 21}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization (FISH) and quantitative real-time polymerase chain reaction (QRT-PCR) were used to diagnose or screen for minimal residual disease (MRD) in Philadelphia (Ph) chromosome-positive leukemia.", "output": {"entities": {"gene": [{"text": "FISH", "start": 36, "end": 40}], "disease": [{"text": "leukemia", "start": 213, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Preserved sigma1 receptor expression and enhanced behavioral efficacy of sigma1 agonists were measured in SAM animals, confirming the therapeutic opportunities for selective ligands against age-related mood disorders.", "output": {"entities": {"gene": [{"text": "sigma1 receptor", "start": 10, "end": 25}], "disease": [{"text": "mood disorders", "start": 202, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sigma1 receptor", "start": 10, "end": 25}, "tail": {"text": "mood disorders", "start": 202, "end": 216}}]}}, "schema": []}
{"input": "Our findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific subtypes of bipolar disorders.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 51, "end": 56}], "disease": [{"text": "bipolar disorders", "start": 111, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALDH2", "start": 51, "end": 56}, "tail": {"text": "bipolar disorders", "start": 111, "end": 128}}]}}, "schema": []}
{"input": "Negative emotionality: monoamine oxidase B gene variants modulate personality traits in healthy humans.", "output": {"entities": {"gene": [{"text": "monoamine oxidase B gene", "start": 23, "end": 47}], "disease": [{"text": "personality traits", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We investigated the effect of functional polymorphisms in the MHC2TA gene (CIITA), and two additional genes; C-type lectin domain 16A (CLEC16A), in linkage disequilibrium with CIITA and Interferon-γ (IFNG), an inducer of CIITA; on bone density, bone resorption markers, bone loss and fracture risk in 75 year-old women followed for up to 10 years (OPRA n = 1003) and in young adult women (PEAK-25 n = 999).", "output": {"entities": {"gene": [{"text": "CIITA", "start": 75, "end": 80}], "disease": [{"text": "bone resorption", "start": 245, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Azidothymidine (AZT)-induced anemia in mice can be reversed by the administration of IGF-IL-3 (fusion protein of insulin-like growth factor II (IGF II) and interleukin 3).", "output": {"entities": {"gene": [{"text": "insulin-like growth factor II", "start": 113, "end": 142}], "disease": [{"text": "anemia", "start": 29, "end": 35}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "insulin-like growth factor II", "start": 113, "end": 142}, "tail": {"text": "anemia", "start": 29, "end": 35}}]}}, "schema": []}
{"input": "Tempol attenuated cardiac hypertrophy in G4H (-/-) mice (heart: tibia, Con 6. 82 ± 0. 35, G4H (-/-) 8. 83 ± 0. 34, Con + T 6. 82 ± 0. 46, G4H (-/-) + T 7. 57 ± 0. 3), without changing GSH: GSSG, glutathione peroxidase 4 or membrane translocation of the p67 (phox).", "output": {"entities": {"gene": [{"text": "p67", "start": 253, "end": 256}], "disease": [{"text": "cardiac hypertrophy", "start": 18, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Enhanced IkappaB kinase activity is responsible for the augmented activity of NF-kappaB in human head and neck carcinoma cells.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 78, "end": 87}], "disease": [{"text": "head and neck carcinoma", "start": 97, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of MAD presenting with confirmed myopathic abnormalities associated with ZMPSTE24 defects, extending the clinical spectrum of ZMPSTE24 gene mutations.", "output": {"entities": {"gene": [{"text": "MAD", "start": 28, "end": 31}], "disease": [{"text": "abnormalities", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Transgenic mice, referred to as K14. COX2 mice, were readily distinguished from their nontransgenic littermates by the appearance of significant alopecia.", "output": {"entities": {"gene": [{"text": "K14", "start": 32, "end": 35}], "disease": [{"text": "alopecia", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Thirteen of these markers of brain amyloid burden--c-peptide, fibrinogen, alpha-1-antitrypsin, pancreatic polypeptide, complement C3, vitronectin, cortisol, AXL receptor kinase, interleukin-3, interleukin-13, matrix metalloproteinase-9 total, apolipoprotein E and immunoglobulin E--were used along with co-variates in multiple linear regression, and were shown by cross-validation to explain > 30% of the variance of brain amyloid burden.", "output": {"entities": {"gene": [{"text": "alpha-1-antitrypsin", "start": 74, "end": 93}], "disease": [{"text": "amyloid", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In patients with IBS with diarrhea or alternating, dronabinol reduces fasting colonic motility; FAAH and CNR1 variants could influence the effects of this drug on colonic motility.", "output": {"entities": {"gene": [{"text": "FAAH", "start": 96, "end": 100}], "disease": [{"text": "diarrhea", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Reverse transcription-PCR and Northern blot analysis demonstrated that all four tested human pancreatic cancer cell lines, PK-1, PK-8, PK-9, and MIA Paca-2, expressed PPARgamma mRNA.", "output": {"entities": {"gene": [{"text": "PPARgamma", "start": 167, "end": 176}], "disease": [{"text": "pancreatic cancer", "start": 93, "end": 110}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PPARgamma", "start": 167, "end": 176}, "tail": {"text": "pancreatic cancer", "start": 93, "end": 110}}]}}, "schema": []}
{"input": "These data support a critical role for the NK-1 receptor in the expression of sustained morphine-induced hyperalgesia.", "output": {"entities": {"gene": [{"text": "NK-1 receptor", "start": 43, "end": 56}], "disease": [{"text": "hyperalgesia", "start": 105, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NK-1 receptor", "start": 43, "end": 56}, "tail": {"text": "hyperalgesia", "start": 105, "end": 117}}]}}, "schema": []}
{"input": "Expression of TIAR protein was also increased in parietal cortex 6 and 24 hr after 90 min of focal cerebral ischemia induced by middle cerebral artery (MCA) occlusion, as well as in cultured cortical neurons and astroglia after exposure to hypoxia in vitro.", "output": {"entities": {"gene": [{"text": "TIAR", "start": 14, "end": 18}], "disease": [{"text": "hypoxia", "start": 240, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "The HAL-1/13-Ku80 antigen is present on the surface of leukemic and solid tumor cell lines, including T and B lymphomas, myeloid leukemias, neuroblastoma, rhabdomyosarcoma, and breast carcinoma cells.", "output": {"entities": {"gene": [{"text": "HAL", "start": 4, "end": 7}], "disease": [{"text": "breast carcinoma", "start": 177, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis revealed that EPM2 patients are homozygous for loss-of-function mutations in EPM2.", "output": {"entities": {"gene": [{"text": "EPM2", "start": 34, "end": 38}], "disease": [{"text": "EPM2", "start": 97, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPM2", "start": 34, "end": 38}, "tail": {"text": "EPM2", "start": 97, "end": 101}}]}}, "schema": []}
{"input": "By flow cytometry, a panel of 18 primary glioma cell explants exhibited high expression of class I HLA-A, B, C, but class II HLA-DR expression was absent.", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 99, "end": 104}], "disease": [{"text": "glioma", "start": 41, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HLA-A", "start": 99, "end": 104}, "tail": {"text": "glioma", "start": 41, "end": 47}}]}}, "schema": []}
{"input": "These RNF168-dependent chromatin modifications orchestrate the accumulation of 53BP1 and BRCA1 to DNA lesions, and their loss is the likely cause of the cellular and developmental phenotypes associated with RIDDLE syndrome.", "output": {"entities": {"gene": [{"text": "RNF168", "start": 6, "end": 12}], "disease": [{"text": "RIDDLE syndrome", "start": 207, "end": 222}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RNF168", "start": 6, "end": 12}, "tail": {"text": "RIDDLE syndrome", "start": 207, "end": 222}}]}}, "schema": []}
{"input": "To evaluate the ability of a dendritic cell (DC) vaccine to target subdominant EBV antigens LMP1 and LMP2 expressed by NPC cells, we vaccinated patients using autologous DCs transduced with an adenovirus encoding a truncated LMP1 (ΔLMP1) and full-length LMP2 (Ad-ΔLMP1-LMP2).", "output": {"entities": {"gene": [{"text": "LMP2", "start": 101, "end": 105}], "disease": [{"text": "adenovirus", "start": 193, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "In individuals with inherited insulin resistance, we observed largely the same defects in insulin action on IRS1, PI3K, Akt2 and GS, as well as a normal inhibition of GSK3 and dephosphorylation of GS at site 3a + 3b.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 114, "end": 118}], "disease": [{"text": "insulin resistance", "start": 30, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Conditional doxycycline-induced upregulation of EZH2 in benign mammary epithelial cells results in nuclear export of BRCA1 protein, aberrant mitoses with extra centrosomes, and genomic instability.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 48, "end": 52}], "disease": [{"text": "genomic instability", "start": 177, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "The bcl-2 gene and 14; 18 translocation in lymphoproliferative disorders.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 4, "end": 14}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "A high concentration of glucose (HG) was utilized to treat HeLa cells under hypoxic or normoxic conditions, and transcriptional levels of HIF-1, VEGF, and basic fibroblast growth factor (bFGF) were evaluated.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 145, "end": 149}], "disease": [{"text": "hypoxic", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In addition, we observed structural and connectivity perturbations in the mitochondrial network, associated with alterations in the profusion protein OPA1, which was similarly reduced in schizophrenia prefrontal cortex specimens.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 150, "end": 154}], "disease": [{"text": "schizophrenia", "start": 187, "end": 200}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPA1", "start": 150, "end": 154}, "tail": {"text": "schizophrenia", "start": 187, "end": 200}}]}}, "schema": []}
{"input": "The aim of this study was to determine whether mutation of PTEN leads to increased genomic alteration in advanced cervical carcinoma, and to identify the correlation between mutation of PTEN and patient outcome after radiotherapy.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 59, "end": 63}], "disease": [{"text": "advanced cervical carcinoma", "start": 105, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We investigate the interaction of EGFR SNPs and HRT for lung adenocarcinoma risk in never-smoking women.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 34, "end": 38}], "disease": [{"text": "smoking", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, FAK overexpression of ESCC was related to cell differentiation, tumour invasiveness, and lymph node metastasis.", "output": {"entities": {"gene": [{"text": "FAK", "start": 15, "end": 18}], "disease": [{"text": "lymph node metastasis", "start": 104, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Mutations in ABCA1 cause Tangier disease characterized by defective cholesterol homeostasis and high density lipoprotein (HDL) deficiency.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 13, "end": 18}], "disease": [{"text": "Tangier disease", "start": 25, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA1", "start": 13, "end": 18}, "tail": {"text": "Tangier disease", "start": 25, "end": 40}}]}}, "schema": []}
{"input": "The diagnosis of MTS relies largely on the microsatellite instability (MSI) phenotype in tumors, suggesting germline mutations in DNA mismatch repair (MMR) genes responsible for the inherited disease.", "output": {"entities": {"gene": [{"text": "MMR", "start": 151, "end": 154}], "disease": [{"text": "microsatellite instability", "start": 43, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "However, the C-allele carrier group had significantly higher mean body weight, body mass index, leptin levels, and higher indices of insulin resistance compared with women with GNAS1 TT-genotype.", "output": {"entities": {"gene": [{"text": "GNAS1", "start": 177, "end": 182}], "disease": [{"text": "insulin resistance", "start": 133, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNAS1", "start": 177, "end": 182}, "tail": {"text": "insulin resistance", "start": 133, "end": 151}}]}}, "schema": []}
{"input": "MCIP1 overexpression suppresses left ventricular remodeling and sustains cardiac function after myocardial infarction.", "output": {"entities": {"gene": [{"text": "MCIP1", "start": 0, "end": 5}], "disease": [{"text": "ventricular remodeling", "start": 37, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of the SLC2A1 gene identified a novel homozygous c1402C > T (p. Arg468Trp) mutation in exon 10 in the index patient and her asymptomatic younger sister.", "output": {"entities": {"gene": [{"text": "SLC2A1 gene", "start": 26, "end": 37}], "disease": [{"text": "asymptomatic", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "This replication effort identified five new SLE susceptibility loci (P & lt; 5 x 10 (-8)): TNIP1 (odds ratio (OR) = 1. 27), PRDM1 (OR = 1. 20), JAZF1 (OR = 1. 20), UHRF1BP1 (OR = 1. 17) and IL10 (OR = 1. 19).", "output": {"entities": {"gene": [{"text": "IL10", "start": 190, "end": 194}], "disease": [{"text": "SLE", "start": 44, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IL10", "start": 190, "end": 194}, "tail": {"text": "SLE", "start": 44, "end": 47}}]}}, "schema": []}
{"input": "The relationship between single nucleotide polymorphism (SNP) of interleukin-17 (IL-17A), transforming growth factor β (TGF-β), as well as its receptor (TGFR-β2) and susceptibility to intracerebral hemorrhage in patients with brain arteriovenous malformation (BAVM) was investigated in the present study.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 120, "end": 125}], "disease": [{"text": "intracerebral hemorrhage", "start": 184, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene.", "output": {"entities": {"gene": [{"text": "ORNT1", "start": 149, "end": 154}], "disease": [{"text": "HHH) syndrome", "start": 100, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ORNT1", "start": 149, "end": 154}, "tail": {"text": "HHH) syndrome", "start": 100, "end": 113}}]}}, "schema": []}
{"input": "A novel PMP22 mutation, deletion of Phe84, was found in one sporadic DSS patient.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 8, "end": 13}], "disease": [{"text": "DSS", "start": 69, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 8, "end": 13}, "tail": {"text": "DSS", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "Several genes and transcripts involved in lipolysis were down-regulated, such as AKAP1, PRKAR2B, Gi and CIDEA, whereas NPY1R and CES1 were up-regulated, when comparing obese to lean subjects.", "output": {"entities": {"gene": [{"text": "AKAP1", "start": 81, "end": 86}], "disease": [{"text": "obese", "start": 168, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKAP1", "start": 81, "end": 86}, "tail": {"text": "obese", "start": 168, "end": 173}}]}}, "schema": []}
{"input": "CONCLUSIONS: Complex, protein truncating TP53 mutations in BRCA1-mutated tumors may be a direct consequence of genomic instability caused by BRCA1 loss, therefore, the presence of these types of TP53 mutations in sporadic BLBCs might be a hallmark of BRCAness and a potential biomarker for sensitivity to PARP inhibition.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 59, "end": 64}], "disease": [{"text": "genomic instability", "start": 111, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Perinatal IL-1beta production in these mice causes a phenotype that is strikingly similar to BPD.", "output": {"entities": {"gene": [{"text": "IL-1beta", "start": 10, "end": 18}], "disease": [{"text": "BPD", "start": 93, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1beta", "start": 10, "end": 18}, "tail": {"text": "BPD", "start": 93, "end": 96}}]}}, "schema": []}
{"input": "TNF-1 (GG) and TNF-2 (GA and AA) allele carriers were compared with respect to body mass index, fat/lean body mass composition, waist-to-hip ratio, as well as fasting lipids, glucose, leptin, and insulin fasting, and during the oral glucose tolerance test (4 points within 2 hours) and oral lipid tolerance test (OLTT; 5 points within 8 hours).", "output": {"entities": {"gene": [{"text": "TNF", "start": 0, "end": 3}], "disease": [{"text": "waist-to-hip ratio", "start": 128, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We previously reported a new mouse model of COPD utilizing the human surfactant protein C promoter SP-C to drive the expression of mature mouse IL-18 cDNA; constitutive IL-18 overproduction in the lungs of transgenic (Tg) mice induces severe emphysematous change, dilatation of the right ventricle, and mild pulmonary hypertension with aging.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 144, "end": 149}], "disease": [{"text": "mild", "start": 303, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "The level of integrin alpha (v) beta3 and its ligand osteopontin (OPN) has been directly correlated to tumorigenicity of melanoma and other cancer cells.", "output": {"entities": {"gene": [{"text": "beta3", "start": 32, "end": 37}], "disease": [{"text": "melanoma", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "However, there have been no reports showing the expression and function of Espin in cancers, including melanoma.", "output": {"entities": {"gene": [{"text": "Espin", "start": 75, "end": 80}], "disease": [{"text": "cancers", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Sections from paraffin-embedded blocks of surgically resected specimens of gallbladder cancer (GBC) (80 cases), chronic cholecystitis (60 cases), and control gallbladders (10 cases) were stained with the monoclonal antibody p53, and polyclonal antibody beta-catenin.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 253, "end": 265}], "disease": [{"text": "chronic cholecystitis", "start": 112, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We compared different combinations of cytokines containing interleukin-1 alpha (IL1), interleukin-3 (IL3), stem cell factor (SCF), leukemia inhibitor factor (LIF), Flt3-ligand (FLT3L), and thrombopoietin (TPO).", "output": {"entities": {"gene": [{"text": "SCF", "start": 125, "end": 128}], "disease": [{"text": "leukemia", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "TGF-beta was expressed in normal brain, in CM, and in meningitis and encephalitis.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 0, "end": 8}], "disease": [{"text": "encephalitis", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In prior work we found that EC cells are hypersensitive to low nanomolar doses of 5-aza deoxycytidine (5-aza) and that this hypersensitivity partially depended on unusually high levels of the DNA methyltransferase, DNMT3B.", "output": {"entities": {"gene": [{"text": "DNMT3B", "start": 215, "end": 221}], "disease": [{"text": "hypersensitivity", "start": 124, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "After RRSO, the breast cancer risk in BRCA1 and BRCA2 mutation carriers is still high enough to justify intensive breast cancer screening with MRI and mammography.", "output": {"entities": {"gene": [{"text": "MRI", "start": 143, "end": 146}], "disease": [{"text": "breast cancer", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "SPOP suppresses tumorigenesis by regulating Hedgehog/Gli2 signaling pathway in gastric cancer.", "output": {"entities": {"gene": [{"text": "Gli2", "start": 53, "end": 57}], "disease": [{"text": "tumorigenesis", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "We provide evidence that the expression of vascular endothelial growth factor (VEGF) and of the VEGF receptor-2 (Flk-1), a signaling system centrally involved in tumor angiogenesis, occurs efficiently in tumors formed by Ras-transformed mammary epithelial cells and that both TGF-beta1 and hypoxia are potent inducers of VEGF expression in these cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 79, "end": 83}], "disease": [{"text": "hypoxia", "start": 290, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "High-grade serous (HGS) carcinoma is the most clinically important histological subtype of ovarian cancer.", "output": {"entities": {"gene": [{"text": "HGS", "start": 19, "end": 22}], "disease": [{"text": "carcinoma", "start": 24, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Class I and class II HLA genes are thought to play a role in the immunopathogenesis of bullous dermatoses such as pemphigus vulgaris and pemphigus foliaceus, but we know little about the genetic background of paraneoplastic pemphigus (PNP) in Chinese patients.", "output": {"entities": {"gene": [{"text": "PNP", "start": 235, "end": 238}], "disease": [{"text": "paraneoplastic pemphigus", "start": 209, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200, 000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology.", "output": {"entities": {"gene": [{"text": "EDN3", "start": 334, "end": 338}], "disease": [{"text": "blood pressure", "start": 61, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Northern blot analysis showed an increased VEGF mRNA level in both carcinoma cells with hypoxia, while hypoxia did not affect the bFGF mRNA level in either cell line.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 43, "end": 47}], "disease": [{"text": "hypoxia", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigate the role of hypoxia in regulating expression of netrin-1 and its receptor uncoordinated-5-B receptor (Unc5b) in plaque macrophages and its functional consequences on these immune cells.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 78, "end": 86}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In addition, the hypoxia induction of PGI/AMF expression was suppressed by inhibitors of vascular endothelial growth factor (VEGF) or VEGF receptors, suggesting that hypoxia-inducible VEGF regulates the PGI/AMF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 125, "end": 129}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "GABRB2 in schizophrenia and bipolar disorder: disease association, gene expression and clinical correlations.", "output": {"entities": {"gene": [{"text": "GABRB2", "start": 0, "end": 6}], "disease": [{"text": "bipolar disorder", "start": 28, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRB2", "start": 0, "end": 6}, "tail": {"text": "bipolar disorder", "start": 28, "end": 44}}]}}, "schema": []}
{"input": "Functional studies revealed that ongoing NR0B1 expression is required for the transformed phenotype of Ewing' s sarcoma.", "output": {"entities": {"gene": [{"text": "NR0B1", "start": 41, "end": 46}], "disease": [{"text": "sarcoma", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that the inhibitory properties of the Ebp1 gene could be beneficial if ectopically expressed in oral squamous cell carcinoma (OSCC) cells.", "output": {"entities": {"gene": [{"text": "Ebp1", "start": 54, "end": 58}], "disease": [{"text": "squamous cell carcinoma", "start": 117, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Exogenous RPL23-induced wt p53 stabilization and activation may be a novel therapeutic approach for patients with gastric cancer.", "output": {"entities": {"gene": [{"text": "RPL23", "start": 10, "end": 15}], "disease": [{"text": "gastric cancer", "start": 114, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "It has been suggested that the cellular response to exposure to ionizing radiation involves activation of the transcription factor nuclear factor-kappaB (NF-kappaB) and that this response is defective in cells from individuals with ataxia telangiectasia (AT).", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 154, "end": 163}], "disease": [{"text": "ataxia telangiectasia", "start": 232, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "We genotyped 1, 206 male and 1, 445 female participants of the FOS for four single-nucleotide polymorphism (SNPs) in PLIN1 and seven SNPs in PLIN4 and tested for associations with measures of BMD, bone ultrasound, hip geometry, and height.", "output": {"entities": {"gene": [{"text": "FOS", "start": 63, "end": 66}], "disease": [{"text": "height", "start": 232, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "The contribution of mutations in the prothrombin (FII G20210A), methylenetetrahydrofolate reductase (C677T) genes and factor V Leiden (FVL) to the pathogenesis of arterial thrombosis remains controversial.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 118, "end": 133}], "disease": [{"text": "arterial thrombosis", "start": 163, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The TCR delta gene was rearranged in four lymphomas although the gamma/delta TCR was not expressed in two cases studied.", "output": {"entities": {"gene": [{"text": "TCR delta gene", "start": 4, "end": 18}], "disease": [{"text": "lymphomas", "start": 42, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "METHODS: We evaluated the methylation status of four genes (TGFB2, SLIT2, HS3ST2, and TMEFF2) in biopsies of four groups of patients: 60 patients with sporadic CRC, 32 patients with IBD-associated neoplasia, 85 patients with IBD without associated neoplasia (20 at high risk and 65 at low risk), and 28 healthy controls.", "output": {"entities": {"gene": [{"text": "TGFB2", "start": 60, "end": 65}], "disease": [{"text": "sporadic", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "This study aimed at identifying the presence of these rearrangements in human colorectal adenocarcinoma specimens using a 4-target, 4-color break-apart FISH assay to simultaneously determine the genomic status of ALK and ROS1.", "output": {"entities": {"gene": [{"text": "FISH", "start": 152, "end": 156}], "disease": [{"text": "colorectal adenocarcinoma", "start": 78, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Our data show that the bone metastasis and anti-apoptotic effects found in Ras signaling-activated prostate cancer cells require miR-34a deficiency, which in turn aids in cell survival by activating the WNT and anti-apoptotic signaling pathways thereby inducing TCF7 and BIRC5 expressions.", "output": {"entities": {"gene": [{"text": "BIRC5", "start": 271, "end": 276}], "disease": [{"text": "aids", "start": 163, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "In ERA, SF IL-17 correlated with number of swollen joints (r = 0. 35; p < 0. 05), number of joints with limited mobility (r = 0. 55; p < 0. 001), and number of tender joints (r = 0. 46; p < 0. 01); however, no correlation was seen with erythrocyte sedimentation rate.", "output": {"entities": {"gene": [{"text": "ERA", "start": 3, "end": 6}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 236, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "This study identified a novel congenital nuclear and posterior polar cataract phenotype caused by the recurrent mutation p. R140X in CRYGD.", "output": {"entities": {"gene": [{"text": "CRYGD", "start": 133, "end": 138}], "disease": [{"text": "posterior polar cataract", "start": 53, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.", "output": {"entities": {"gene": [{"text": "UBR1 gene", "start": 70, "end": 79}], "disease": [{"text": "mild", "start": 32, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Transgenic expression of Cd36 in the new lines was associated with significantly decreased serum fatty acids, amelioration of insulin resistance and glucose intolerance but failed to induce any consistent changes in blood pressure as measured by radiotelemetry.", "output": {"entities": {"gene": [{"text": "Cd36", "start": 25, "end": 29}], "disease": [{"text": "insulin resistance", "start": 126, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cd36", "start": 25, "end": 29}, "tail": {"text": "insulin resistance", "start": 126, "end": 144}}]}}, "schema": []}
{"input": "Although both splenic weight and cellularity in FVC-infected mice treated with IL-7 were higher than those of normal mice, they were respectively 58% and 66% lower than those of the untreated FVC-infected mice.", "output": {"entities": {"gene": [{"text": "IL-7", "start": 79, "end": 83}], "disease": [{"text": "weight", "start": 22, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "K-Ras (K-Ras gene) siRNA transfection of EC9706 esophageal squamous carcinoma cells decreased the expression of K-Ras, MAPK1 and cyclin D1 at the mRNA and protein level.", "output": {"entities": {"gene": [{"text": "MAPK1", "start": 119, "end": 124}], "disease": [{"text": "esophageal", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Fifteen single nucleotide polymorphisms within BMP4, FGF3, FGF10, FGFR1 genes were investigated in 138 elite volleyball athletes, aged between 18 and 35 years, who undergo 4-5h of training per day: 52 with tendinopathy and 86 with no history of pain suggestive of tendinopathy in patellar, Achilles, shoulder, and hip abductors tendons.", "output": {"entities": {"gene": [{"text": "FGF10", "start": 59, "end": 64}], "disease": [{"text": "pain", "start": 245, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that Japanese subjects bearing at least one A allele of rs2230009 of the WRN gene are at a significantly higher risk of femoral fracture, possibly due to decreased bone density.", "output": {"entities": {"gene": [{"text": "WRN gene", "start": 93, "end": 101}], "disease": [{"text": "bone density", "start": 184, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Using the Atlas human cDNA array I, we identified 27 genes (not counting RARbeta itself) that are regulated, directly or indirectly, by RARbeta2 when it is transfected into Calu-1, a lung tumor-derived line that does not normally express RARbeta.", "output": {"entities": {"gene": [{"text": "Calu", "start": 173, "end": 177}], "disease": [{"text": "lung tumor", "start": 183, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We found that the apolipoprotein C1 (apo C1) gene was prominently expressed in the atheroma of the carotid and femoral arteries, as compared to the nonatherosclerotic arteries.", "output": {"entities": {"gene": [{"text": "apolipoprotein C1", "start": 18, "end": 35}], "disease": [{"text": "atheroma", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated CA1 hippocampal synaptic plasticity, long-term potentiation (LTP) and depression (LTD) in the Ts1Cje mouse.", "output": {"entities": {"gene": [{"text": "CA1", "start": 31, "end": 34}], "disease": [{"text": "depression", "start": 101, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that highly positive c22-3 samples are likely to be associated with HCV viremia and that infection with less common HCV genotypes is more commonly associated with indeterminate RIBA 2. 0 results.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 199, "end": 203}], "disease": [{"text": "viremia", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Levels of GH, IGF-I, and IGFBP-3 were above the 95th percentile in the serum of the 3-year-old girl with a mono-allelic deletion of the IGF1R gene, suggesting IGF-I resistance.", "output": {"entities": {"gene": [{"text": "IGF1R gene", "start": 136, "end": 146}], "disease": [{"text": "mono", "start": 107, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "They were \" early \" corresponding to mild and moderate DYS with overexpression of fascin, FADD and CDC25B and underexpression of Fas, caspase 8, CK4 and annexin I, \" intermediate \" to severe DYS and CIS with overexpression of FADD and CK14, and \" late \" to invasive lesions (ESCC) and to advanced pTNM stage ESCC lesions with overexpression of CK14, laminin-5gamma2 and SPARC.", "output": {"entities": {"gene": [{"text": "CDC25B", "start": 99, "end": 105}], "disease": [{"text": "mild", "start": 37, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that the ADRA1A gene is involved in weight gain among schizophrenia patients treated with antipsychotics.", "output": {"entities": {"gene": [{"text": "ADRA1A gene", "start": 28, "end": 39}], "disease": [{"text": "weight gain", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of specific ADAR2 variants with diminished catalytic activity was observed in schizophrenia.", "output": {"entities": {"gene": [{"text": "ADAR2", "start": 33, "end": 38}], "disease": [{"text": "schizophrenia", "start": 99, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADAR2", "start": 33, "end": 38}, "tail": {"text": "schizophrenia", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "Low α-KG levels promotes stabilization of hypoxia-induced factor 1a (Hif1a) and secretion of vascular endothelial growth factor A (Vegfa) by starved Vldlr (-/-) photoreceptors, leading to neovascularization.", "output": {"entities": {"gene": [{"text": "Vegfa", "start": 131, "end": 136}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "This study examined the associations and age-specific effects on asthma, atopy and bronchial hyper-responsiveness (BHR) of five candidate genes previously identified by positional cloning (ADAM33, PHF11, NPSR1, DPP10, SPINK5).", "output": {"entities": {"gene": [{"text": "DPP10", "start": 211, "end": 216}], "disease": [{"text": "atopy", "start": 73, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In emerging diabetic retinopathy, MEMRI provided an analytic measure of an ionic dysregulatory pattern that was sensitive to SOD1 overexpression.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 125, "end": 129}], "disease": [{"text": "diabetic retinopathy", "start": 12, "end": 32}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD1", "start": 125, "end": 129}, "tail": {"text": "diabetic retinopathy", "start": 12, "end": 32}}]}}, "schema": []}
{"input": "Overall, our data do not provide strong evidence for impaired prodynorphin or kappa opioid receptor mRNA levels in the dorsolateral prefrontal or cingulate cortices of schizophrenic, bipolar disorder, or major depressed subjects.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 62, "end": 74}], "disease": [{"text": "bipolar disorder", "start": 183, "end": 199}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 62, "end": 74}, "tail": {"text": "bipolar disorder", "start": 183, "end": 199}}]}}, "schema": []}
{"input": "CONCLUSIONS: The t (14; 18)/IGH-BCL2 chromosomal translocation occurred frequently in gastrointestinal follicular lymphomas.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 32, "end": 36}], "disease": [{"text": "chromosomal translocation", "start": 37, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "This gene product and its relative, FKBP4, physically associate with the glucocorticoid receptor whose function is implicated in MDD pathophysiology.", "output": {"entities": {"gene": [{"text": "FKBP4", "start": 36, "end": 41}], "disease": [{"text": "MDD", "start": 129, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FKBP4", "start": 36, "end": 41}, "tail": {"text": "MDD", "start": 129, "end": 132}}]}}, "schema": []}
{"input": "Formalin-fixed, paraffin-embedded tissue from 19 myelolipomas was stained with hematoxylin and eosin and immunostained with monoclonal antibodies against CD138, CD34, CD117, CD42a, hemoglobin, myeloperoxidase, collagen IV, and nerve growth factor receptor.", "output": {"entities": {"gene": [{"text": "nerve growth factor receptor", "start": 227, "end": 255}], "disease": [{"text": "hemoglobin", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Survival analysis showed that methylation status of sFRP1, sFRP4, and sFRP5 was associated with worse survival in MDS and sFRP5 methylation also predicted a high risk of leukemia evolution (P = 0. 018).", "output": {"entities": {"gene": [{"text": "sFRP4", "start": 59, "end": 64}], "disease": [{"text": "leukemia", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We identified no PTCH1 mutations and two SUFU mutations that cause premature protein truncating in the series of sporadic non-familial medulloblastomas.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 41, "end": 45}], "disease": [{"text": "sporadic", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Carrier parents were asymptomatic, suggesting that MFN2 null alleles can be nonpathogenic unless coinherited with another mutation.", "output": {"entities": {"gene": [{"text": "MFN2", "start": 51, "end": 55}], "disease": [{"text": "asymptomatic", "start": 21, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "However, the importance of LCN2 in breast tumorigenesis is unclear.", "output": {"entities": {"gene": [{"text": "LCN2", "start": 27, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "No molecular abnormalities were found in the exons of this patient' s AMH gene.", "output": {"entities": {"gene": [{"text": "AMH gene", "start": 70, "end": 78}], "disease": [{"text": "abnormalities", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Age, BMI, drinking, and smoking accounted for 52. 1 and 34. 7% of the variation among those with ALDH2 * 1/2 * 2 and ALDH2 * 1/2 * 1, respectively.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 97, "end": 102}], "disease": [{"text": "smoking", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "FSS and SHS mutations affect different myosin residues, demonstrating that MYH3 genotype is predictive of phenotype.", "output": {"entities": {"gene": [{"text": "MYH3", "start": 75, "end": 79}], "disease": [{"text": "SHS", "start": 8, "end": 11}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH3", "start": 75, "end": 79}, "tail": {"text": "SHS", "start": 8, "end": 11}}]}}, "schema": []}
{"input": "The increase in VEGF under hypoxic conditions was blocked by the addition of PI3 kinase inhibitors, indicating that the latter pathway is important in the hypoxic stress response.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 16, "end": 20}], "disease": [{"text": "hypoxic", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Sox2 cooperates with inflammation-mediated Stat3 activation in the malignant transformation of foregut basal progenitor cells.", "output": {"entities": {"gene": [{"text": "Sox2", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 21, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "PCNA labeling index (LI) and the level of PGE2 in bladder papilloma are much higher than those in normal bladder (P < 0. 01), but lower than those in bladder TCC (P < 0. 05).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 0, "end": 4}], "disease": [{"text": "bladder papilloma", "start": 50, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We observed that the expression of amphiregulin, betacellulin and epiregulin was significantly increased in young EPP mice when compared to aged-matched controls in all genetic backgrounds.", "output": {"entities": {"gene": [{"text": "epiregulin", "start": 66, "end": 76}], "disease": [{"text": "EPP", "start": 114, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "epiregulin", "start": 66, "end": 76}, "tail": {"text": "EPP", "start": 114, "end": 117}}]}}, "schema": []}
{"input": "To further understand the role of GPBAR1 in inflammation, we generated a novel, selective, proprietary GPBAR1 agonist and tested its effectiveness at reducing monocyte and macrophage activation in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "GPBAR1", "start": 34, "end": 40}], "disease": [{"text": "inflammation", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Abcg2-/-mice showed exaggerated cardiac hypertrophy and ventricular remodeling after TAC compared with wild-type mice.", "output": {"entities": {"gene": [{"text": "Abcg2", "start": 0, "end": 5}], "disease": [{"text": "ventricular remodeling", "start": 56, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "This translocation results in overexpression of bcl-2, which increases cellular life span of the mutated cells by decreasing apoptosis.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 48, "end": 53}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigate whether common genetic variation in this pathway influences insulin-like growth factor-I (IGF-I) levels and mammographic density.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 111, "end": 116}], "disease": [{"text": "mammographic density", "start": 129, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Coupled with the identification of further ATR-deficient patients, our findings allow a spectrum of clinical features that can be ascribed to the ATR-ATRIP deficient sub-class of Seckel Syndrome.", "output": {"entities": {"gene": [{"text": "ATRIP", "start": 150, "end": 155}], "disease": [{"text": "Seckel Syndrome", "start": 179, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATRIP", "start": 150, "end": 155}, "tail": {"text": "Seckel Syndrome", "start": 179, "end": 194}}]}}, "schema": []}
{"input": "Fanconi anemia (FA) is a rare disorder characterized by physical abnormalities, bone marrow failure (BMF), increased risk of malignancies, and cellular hypersensitivity to DNA cross-linking agents.", "output": {"entities": {"gene": [{"text": "BMF", "start": 101, "end": 104}], "disease": [{"text": "hypersensitivity", "start": 152, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "An analysis of three separate human data sets revealed a gene wide association between variation in FBXL3 and bipolar disorder (P = 0. 009).", "output": {"entities": {"gene": [{"text": "FBXL3", "start": 100, "end": 105}], "disease": [{"text": "bipolar disorder", "start": 110, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FBXL3", "start": 100, "end": 105}, "tail": {"text": "bipolar disorder", "start": 110, "end": 126}}]}}, "schema": []}
{"input": "We initiated studies in Burkitt lymphoma cells, which constitutively express c-MYC due to a chromosomal translocation, to determine whether Hedgehog or c-MYC regulates GLI1 expression.", "output": {"entities": {"gene": [{"text": "GLI1", "start": 168, "end": 172}], "disease": [{"text": "chromosomal translocation", "start": 92, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical staining for DOG-1, C-Kit (CD117) and protein kinase C theta (PKCθ) was performed on FNA cell-block preparations representing 30 GISTs, 17 leiomyosarcomas, 16 melanomas, 16 schwannomas, 11 adenoid cystic carcinomas, and 8 leiomyomas.", "output": {"entities": {"gene": [{"text": "protein kinase C theta", "start": 58, "end": 80}], "disease": [{"text": "schwannomas", "start": 193, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "This study provides evidence for HOTAIR to promote tumorigenesis via downregulating SETD2 in liver cancer stem cells.", "output": {"entities": {"gene": [{"text": "SETD2", "start": 84, "end": 89}], "disease": [{"text": "tumorigenesis", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "These findings show that homozygous mutations at p. R707W in MFN2 are a novel cause of multiple symmetrical lipomatosis.", "output": {"entities": {"gene": [{"text": "MFN2", "start": 61, "end": 65}], "disease": [{"text": "multiple symmetrical lipomatosis", "start": 87, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MFN2", "start": 61, "end": 65}, "tail": {"text": "multiple symmetrical lipomatosis", "start": 87, "end": 119}}]}}, "schema": []}
{"input": "CCNY was significantly upregulated in OC cell lines and tissues (both P < 0. 05); significant association was observed between CCNY expression and clinicopathological stage, lymph node metastasis (LNM) (P < 0. 05); and the CCNY expression in stages III to IV was higher than that in stages I to II, and patients with LNM had higher CCNY expression when compared with those in patients without LNM (P < 0. 05); expressions of c-Myc, cyclin D, PFTK1, ki67, and OGT were upregulated in OC tissues compared with ovarian benign tissues, suggesting that these expressions were significantly different between the two groups (P < 0. 05); CCNY significantly exacerbated proliferation, migration, and invasion of A2780 cells; c-Myc and cyclin D1 protein expressions increased as the expression of CCNY increased (P < 0. 001); β-catenin expressions in A2780 cells with over-expression of CCNY were significantly increased in the nucleus, but significantly decreased in the cytoplasm (both P < 0. 05); high expressions of CCNY exacerbated the proliferation of A2780 cells in nude mice and significantly increased c-Myc, cyclin D1, PFTK1, ki67, and OGT protein expressions in tumor tissues which were transplanted into nude mice (P < 0. 01).", "output": {"entities": {"gene": [{"text": "OGT", "start": 459, "end": 462}], "disease": [{"text": "lymph node metastasis", "start": 174, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND: p63, homologous to p53, has been investigated to be involved in various aspects of tumorigenesis and cancer progression.", "output": {"entities": {"gene": [{"text": "p63", "start": 12, "end": 15}], "disease": [{"text": "tumorigenesis", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Our recent study showed reduced G protein γ2 subunit (Gng2/GNG2) expression levels in malignant melanoma cells compared with those in benign melanocytic cells in both mice and humans.", "output": {"entities": {"gene": [{"text": "GNG2", "start": 59, "end": 63}], "disease": [{"text": "malignant melanoma", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Our in vitro data also indicate that insulin/IRS-1/PI3K signaling is required for ACE2 expression in cardiomyocytes, and that hypoxia can enhance the induction effect of insulin/IRS-1/PI3K signaling on ACE2 expression in cardiomyocytes.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 82, "end": 86}], "disease": [{"text": "hypoxia", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "ADAM (a disintegrin and metalloprotease) 12 and ADAM17 are multidomain transmembrane proteins involved in ectodomain shedding of cytokines, growth factors and adhesion molecules, with pivotal activities in the tumor microenvironment.", "output": {"entities": {"gene": [{"text": "ADAM17", "start": 48, "end": 54}], "disease": [{"text": "adhesion", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The single measurement of serum S100B at 6 h after ICH induction was significantly correlated with brain edema formation and the maximal extent of the hematoma volumes.", "output": {"entities": {"gene": [{"text": "S100B", "start": 32, "end": 37}], "disease": [{"text": "hematoma", "start": 151, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100B", "start": 32, "end": 37}, "tail": {"text": "hematoma", "start": 151, "end": 159}}]}}, "schema": []}
{"input": "We found an increase in endogenous cardiac SOCS3, p-STAT3 and AC-RelA activation in the myocardium of infants with cyanotic cardiac defects.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 43, "end": 48}], "disease": [{"text": "cardiac defects", "start": 124, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate the therapeutic potential of specific-oncolysis and suicide gene therapy for AI-PSA/PSMA-positive prostate cancer gene therapy.", "output": {"entities": {"gene": [{"text": "PSA", "start": 104, "end": 107}], "disease": [{"text": "oncolysis", "start": 62, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We present, to our best knowledge, the first case of warfarin skin necrosis associated with a methylenetetrahydrofolate reductase mutation.", "output": {"entities": {"gene": [{"text": "methylenetetrahydrofolate reductase", "start": 94, "end": 129}], "disease": [{"text": "necrosis", "start": 67, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "methylenetetrahydrofolate reductase", "start": 94, "end": 129}, "tail": {"text": "necrosis", "start": 67, "end": 75}}]}}, "schema": []}
{"input": "Increased levels of TRAF1, TRAF2, and TANK/I-TRAF were expressed in astrocytomas compared with levels in normal brain tissue (p = 0. 02, 0. 006, and 0. 01, respectively).", "output": {"entities": {"gene": [{"text": "TRAF1", "start": 20, "end": 25}], "disease": [{"text": "astrocytomas", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In contrast, in patients with SZ, the distributions of 5A5A genotype and 5A allele of MMP3 gene were significantly increased as compared with healthy controls.", "output": {"entities": {"gene": [{"text": "MMP3", "start": 86, "end": 90}], "disease": [{"text": "SZ", "start": 30, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP3", "start": 86, "end": 90}, "tail": {"text": "SZ", "start": 30, "end": 32}}]}}, "schema": []}
{"input": "The correlation between COMT gene polymorphism and early cerebral vasospasm after subarachnoid hemorrhage.", "output": {"entities": {"gene": [{"text": "COMT gene", "start": 24, "end": 33}], "disease": [{"text": "subarachnoid hemorrhage", "start": 82, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Treatment with LDL promoted activation and translocation of endogenous sphingosine kinase 1 (SK1) from the cytosol to the plasma membrane concomitant with production of sphingosine-1-phosphate (S1P).", "output": {"entities": {"gene": [{"text": "sphingosine kinase 1", "start": 71, "end": 91}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "PCLO rs13438494 exhibits a relationship with the symptoms of drug dependence or related parameters, such as the age of first exposure to methamphetamine, eating disorders, tobacco dependence and fentanyl requirement.", "output": {"entities": {"gene": [{"text": "PCLO", "start": 0, "end": 4}], "disease": [{"text": "drug dependence", "start": 61, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "When GP5 +/GP6 + was used, the sensitivity increased to 89% with cold-start PCR and to 95% with hot-start PCR.", "output": {"entities": {"gene": [{"text": "GP6", "start": 11, "end": 14}], "disease": [{"text": "cold", "start": 65, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The expression of AGER isoforms is different in atheroma from patients with recent symptoms.", "output": {"entities": {"gene": [{"text": "AGER", "start": 18, "end": 22}], "disease": [{"text": "atheroma", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "This study investigated genes involved in the regulation of neuroplasticity (BDNF, ST8SIA2), second messenger cascades (GSK3B, MAPK1, and CREB1), circadian rhythms (RORA), transcription (SP4, ZNF804A), and monoaminergic system (HTR2A and COMT) in the risk of neurological, psychic, autonomic, and other ADRs.", "output": {"entities": {"gene": [{"text": "GSK3B", "start": 120, "end": 125}], "disease": [{"text": "circadian rhythms", "start": 146, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration.", "output": {"entities": {"gene": [{"text": "GLB1 gene", "start": 80, "end": 89}], "disease": [{"text": "rapidly progressive", "start": 162, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "In addition, LGA appears to be a risk factor for allergic asthma and for general atopy in later life.", "output": {"entities": {"gene": [{"text": "LGA", "start": 13, "end": 16}], "disease": [{"text": "atopy", "start": 81, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Despite the low incidence of microsatellite instability (MSI) in lymphoid malignant neoplasms, it has been reported that the CD5 promoter MSI was relatively frequent among B-cell chronic lymphoproliferative disorders.", "output": {"entities": {"gene": [{"text": "CD5", "start": 125, "end": 128}], "disease": [{"text": "microsatellite instability", "start": 29, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The results show that sema3A is elevated in schizophrenia, and is associated with downregulation of genes involved in synaptic formation and maintenance.", "output": {"entities": {"gene": [{"text": "sema3A", "start": 22, "end": 28}], "disease": [{"text": "schizophrenia", "start": 44, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sema3A", "start": 22, "end": 28}, "tail": {"text": "schizophrenia", "start": 44, "end": 57}}]}}, "schema": []}
{"input": "Translated products of AOGs showed differential expression in the liver of hyperthyroid rats, where Cu/Zn SOD (SOD1), CAT and GR were decreased in contrast to Mn SOD (SOD2) and GPx1.", "output": {"entities": {"gene": [{"text": "GR", "start": 126, "end": 128}], "disease": [{"text": "hyperthyroid", "start": 75, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GR", "start": 126, "end": 128}, "tail": {"text": "hyperthyroid", "start": 75, "end": 87}}]}}, "schema": []}
{"input": "Immunohistochemical staining confirmed the increased expression of CST1 in the nasal epithelial cells of SAR patients.", "output": {"entities": {"gene": [{"text": "CST1", "start": 67, "end": 71}], "disease": [{"text": "SAR", "start": 105, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CST1", "start": 67, "end": 71}, "tail": {"text": "SAR", "start": 105, "end": 108}}]}}, "schema": []}
{"input": "Furthermore, we found that the tongue tumor with high metastasis capability showed higher ILK, Vimentin, Snail, Slug and Twist as well as lower E-cadherin expression in clinical specimens.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 144, "end": 154}], "disease": [{"text": "tongue tumor", "start": 31, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Intracellular amyloid precursor protein sorting and amyloid-β secretion are regulated by Src-mediated phosphorylation of Mint2.", "output": {"entities": {"gene": [{"text": "Mint2", "start": 121, "end": 126}], "disease": [{"text": "amyloid", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Exclusion of APC and VHL gene deletions by array-based comparative hybridization in two patients with microscopically visible chromosomal aberrations.", "output": {"entities": {"gene": [{"text": "VHL gene", "start": 21, "end": 29}], "disease": [{"text": "chromosomal aberrations", "start": 126, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Because inactivating somatic mutation is the hallmark of an authentic tumor suppressor, Smad3 is unlikely to function as a classical tumor suppressor gene in the pathogenesis of sporadic parathyroid or enteropancreatic endocrine tumors.", "output": {"entities": {"gene": [{"text": "Smad3", "start": 88, "end": 93}], "disease": [{"text": "somatic mutation", "start": 21, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Strategies to activate SIRT1 or FGF21 could be used to treat fatty liver disease and obesity.", "output": {"entities": {"gene": [{"text": "FGF21", "start": 32, "end": 37}], "disease": [{"text": "obesity", "start": 85, "end": 92}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FGF21", "start": 32, "end": 37}, "tail": {"text": "obesity", "start": 85, "end": 92}}]}}, "schema": []}
{"input": "Importantly, downregulating SIRT1 with shRNA inhibited the migration ability of osteosarcoma cells in vitro and suppressed tumour lung metastasis in mice.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 28, "end": 33}], "disease": [{"text": "metastasis", "start": 135, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT1", "start": 28, "end": 33}, "tail": {"text": "metastasis", "start": 135, "end": 145}}]}}, "schema": []}
{"input": "Significant higher concentrations (P < 0. 05) of IL-6 in the mild and severe oligospermic group, IL-8 and IL-10 in the asthenospermic group and IL-6, IL-10, TNF-alpha and IFN-gamma in the obstructed azoospermic group were determined.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 106, "end": 111}], "disease": [{"text": "mild", "start": 61, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Genetic analyses have revealed an association between the gene encoding the Rab3A-interacting molecule (RIM1) and the autosomal dominant cone-rod dystrophy CORD7.", "output": {"entities": {"gene": [{"text": "Rab3A", "start": 76, "end": 81}], "disease": [{"text": "cone-rod dystrophy", "start": 137, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "These observations suggest that p63 genomic amplification has an early role in lung tumorigenesis and deserves additional evaluation as a biomarker for lung cancer progression.", "output": {"entities": {"gene": [{"text": "p63", "start": 32, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In an independent cohort of epidemiologically linked transmission pairs, the presence of these substitutions in viruses encoding T (242) N was associated with significantly higher plasma viremia in donors, further suggesting that these secondary mutations compensated for the replication defect of T (242) N. Using NL4-3 constructs, we illustrate the ability of these CypA loop changes to partially restore replication of the T (242) N variant in vitro.", "output": {"entities": {"gene": [{"text": "NL4", "start": 315, "end": 318}], "disease": [{"text": "viremia", "start": 187, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Additional 14 spindle cell (from 8 children and 6 adults) and 4 sclerosing (from 2 children and 2 adults) RMS were tested by FISH for the presence of abnormalities in NCOA2, SRF, as well as for PAX3 and NCOA1.", "output": {"entities": {"gene": [{"text": "NCOA1", "start": 203, "end": 208}], "disease": [{"text": "abnormalities", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Thus, we evaluated the association of 11 targeted IGF pathway SNPs with circulating IGF levels and mammographic breast density.", "output": {"entities": {"gene": [{"text": "IGF", "start": 50, "end": 53}], "disease": [{"text": "mammographic breast density", "start": 99, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.", "output": {"entities": {"gene": [{"text": "sterol 27-hydroxylase", "start": 27, "end": 48}], "disease": [{"text": "cerebrotendinous xanthomatosis", "start": 62, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "sterol 27-hydroxylase", "start": 27, "end": 48}, "tail": {"text": "cerebrotendinous xanthomatosis", "start": 62, "end": 92}}]}}, "schema": []}
{"input": "IL-6 > 5. 8 ng/L and CRP > 2. 6 mg/L were associated with a 4. 5-fold increase in the odds of having complex coronary plaque (P < 0. 005).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 0, "end": 4}], "disease": [{"text": "plaque", "start": 118, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "HGF decreased the expression of E-cadherin and induced the translocation of E-cadherin to the cytoplasm.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 32, "end": 42}], "disease": [{"text": "translocation", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "TP53, MSH4, and LATS1 germline mutations in a family with clustering of nervous system tumors.", "output": {"entities": {"gene": [{"text": "MSH4", "start": 6, "end": 10}], "disease": [{"text": "nervous system tumors", "start": 72, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We examined the association between post-stroke depression (PSD) and polymorphism in HTR2C.", "output": {"entities": {"gene": [{"text": "PSD", "start": 60, "end": 63}], "disease": [{"text": "stroke", "start": 41, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In the clinical material from North Western Russia, factor V Leiden was found to be a risk factor in venous thrombosis (OR = 3. 6), while the methylenetetrahydrofolate reductase (MTHFR) C677T mutation was a significant variable in both venous (p = 0. 03) and arterial thrombosis (p = 0. 004).", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 52, "end": 67}], "disease": [{"text": "arterial thrombosis", "start": 259, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of keratinocyte growth factor in cyclosporin A-induced gingival overgrowth.", "output": {"entities": {"gene": [{"text": "keratinocyte growth factor", "start": 16, "end": 42}], "disease": [{"text": "gingival overgrowth", "start": 68, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "This is the first case report of ALDH18A1-related CL with cyclic vomiting associated with amino acid abnormalities.", "output": {"entities": {"gene": [{"text": "ALDH18A1", "start": 33, "end": 41}], "disease": [{"text": "abnormalities", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Pericentromeric inversion of chromosome 11 that results in activation of the P: RAD1/cyclin D1 gene and tumor suppressor gene loss have been described as genetic abnormalities in the evolution of parathyroid neoplasms.", "output": {"entities": {"gene": [{"text": "RAD1", "start": 80, "end": 84}], "disease": [{"text": "parathyroid neoplasms", "start": 196, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Junctional CD8 + cutaneous lymphomas with nonaggressive clinical behavior: a CD8 + variant of mycosis fungoides?", "output": {"entities": {"gene": [{"text": "CD8", "start": 11, "end": 14}], "disease": [{"text": "mycosis fungoides", "start": 94, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that PPAR-gamma may be a key regulator of blood-brain barrier permeability and a potential therapeutic target during hypertension.", "output": {"entities": {"gene": [{"text": "PPAR-gamma", "start": 26, "end": 36}], "disease": [{"text": "hypertension", "start": 138, "end": 150}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PPAR-gamma", "start": 26, "end": 36}, "tail": {"text": "hypertension", "start": 138, "end": 150}}]}}, "schema": []}
{"input": "We recently identified the FIP1L1-PDGFRA fusion gene in approx 50% of HES/CEL cases.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 34, "end": 40}], "disease": [{"text": "CEL", "start": 74, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDGFRA", "start": 34, "end": 40}, "tail": {"text": "CEL", "start": 74, "end": 77}}]}}, "schema": []}
{"input": "Screening using an siRNA library revealed that MAPKKK6 (MEKK6/MAP3K6) regulates VEGF expression under both normoxic and hypoxic conditions in vitro, although the biological function of MAP3K6 remains unknown.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 80, "end": 84}], "disease": [{"text": "hypoxic", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In primary prostate cancer and bone metastasis, PAR-1 is upregulated in reactive stroma and PAR-2 is uniformly overexpressed in carcinoma cells, suggesting these receptors may play potentially different roles in prostate cancer development and metastasis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 48, "end": 51}], "disease": [{"text": "metastasis", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "By using complementary in vitro and ex vivo approaches, we show that the risk allele (Y153H) of the pre-eclampsia susceptibility gene STOX1 negatively regulates trophoblast invasion by upregulation of the cell-cell adhesion protein alpha-T-catenin (CTNNA3).", "output": {"entities": {"gene": [{"text": "CTNNA3", "start": 249, "end": 255}], "disease": [{"text": "pre-eclampsia", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We describe three novel heterozygous frameshift or nonsense GLI2 mutations, predicting truncated proteins lacking the activator domain, associated with IGHD or combined pituitary hormone deficiency and ectopic posterior pituitary lobe without HPE.", "output": {"entities": {"gene": [{"text": "GLI2", "start": 60, "end": 64}], "disease": [{"text": "pituitary hormone deficiency", "start": 169, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that Cx26, Cx32, or Cx43 would display differential growth suppression of C6 glioma cells and uniquely modulate the bystander effect following transduction of C6 cells with HSVtk followed by suicide gene therapy.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 27, "end": 31}], "disease": [{"text": "glioma", "start": 93, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "It is considered that BCL2 translocation precedes MYC events in lymphomagenesis of DHL.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 22, "end": 26}], "disease": [{"text": "translocation", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show that thymidine phosphorylase activity also augments levels of the hypoxia-inducible factor-1alpha during in vitro hypoxia, and that thymidine phosphorylase activity and hypoxia act in concert to increase vascular endothelial growth factor (VEGF) secretion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 263, "end": 267}], "disease": [{"text": "hypoxia", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The role of FoxP3 + CD4 + CD25hi Tregs in the pathogenesis of myasthenia gravis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 20, "end": 23}], "disease": [{"text": "myasthenia gravis", "start": 62, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.", "output": {"entities": {"gene": [{"text": "decorin", "start": 71, "end": 78}], "disease": [{"text": "Congenital stromal dystrophy of the cornea", "start": 0, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "decorin", "start": 71, "end": 78}, "tail": {"text": "Congenital stromal dystrophy of the cornea", "start": 0, "end": 42}}]}}, "schema": []}
{"input": "The only major Ras effector pathway not explored for its role in melanoma is the RalGEF-Ral pathway, in which Ras activation of RalGEFs converts the small GTPases RalA and RalB to an active guanosine triphosphate-bound state.", "output": {"entities": {"gene": [{"text": "RalA", "start": 163, "end": 167}], "disease": [{"text": "melanoma", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "This study implies an essential role for PLCB3 in the neuroendocrine tumorigenesis.", "output": {"entities": {"gene": [{"text": "PLCB3", "start": 41, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to examine whether MRI surveillance, and particularly recall, is associated with increased anxiety, depression, or breast cancer worry/distress.", "output": {"entities": {"gene": [{"text": "MRI", "start": 36, "end": 39}], "disease": [{"text": "breast cancer", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we provide evidence that CDK inhibitors induce the translocation of YAP from the nucleus to the cytoplasm, resulting in a decrease in its activity.", "output": {"entities": {"gene": [{"text": "YAP", "start": 78, "end": 81}], "disease": [{"text": "translocation", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "An increased binomial regression risk ratio = 2. 5, 95% confidence interval (CI) 1. 5-4. 2, of the GSTM1 null genotype for CTE was found in smokers and for the GSTT1 null genotype (binomial regression risk ratio 1. 5, 95% CI 1. 0-2. 0).", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 160, "end": 165}], "disease": [{"text": "regression", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.", "output": {"entities": {"gene": [{"text": "Senataxin", "start": 0, "end": 9}], "disease": [{"text": "ataxia-ocular apraxia 2", "start": 62, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Senataxin", "start": 0, "end": 9}, "tail": {"text": "ataxia-ocular apraxia 2", "start": 62, "end": 85}}]}}, "schema": []}
{"input": "We report that the primary growth of this tumor in the footpad and its metastasis to lung are correlated with the development of increased numbers of suppressor cells, characterized by the expression of a surface histamine H2 receptor.", "output": {"entities": {"gene": [{"text": "histamine H2 receptor", "start": 213, "end": 234}], "disease": [{"text": "metastasis", "start": 71, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "histamine H2 receptor", "start": 213, "end": 234}, "tail": {"text": "metastasis", "start": 71, "end": 81}}]}}, "schema": []}
{"input": "We demonstrate that NAC down-regulates the expression of IGF-1R on three colorectal adenocarcinoma cell lines (HT29, SW480, and LoVo).", "output": {"entities": {"gene": [{"text": "NAC", "start": 20, "end": 23}], "disease": [{"text": "colorectal adenocarcinoma", "start": 73, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Whether surveillance regimens that include MRI will reduce mortality from breast cancer in high-risk women requires further investigation.", "output": {"entities": {"gene": [{"text": "MRI", "start": 43, "end": 46}], "disease": [{"text": "breast cancer", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations.", "output": {"entities": {"gene": [{"text": "MATR3", "start": 17, "end": 22}], "disease": [{"text": "ALS", "start": 36, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MATR3", "start": 17, "end": 22}, "tail": {"text": "ALS", "start": 36, "end": 39}}]}}, "schema": []}
{"input": "The frequency of germ line p53 mutations can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation.", "output": {"entities": {"gene": [{"text": "p53", "start": 27, "end": 30}], "disease": [{"text": "LFS", "start": 89, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p53", "start": 27, "end": 30}, "tail": {"text": "LFS", "start": 89, "end": 92}}]}}, "schema": []}
{"input": "Furthermore, 13, 14-dihydro-15-keto-PGD2, a specific DP2 agonist not only increases eosinophil recruitment at inflammatory sites but also the pathology in two in vivo models of allergic inflammation: atopic dermatitis and allergic asthma.", "output": {"entities": {"gene": [{"text": "DP2", "start": 53, "end": 56}], "disease": [{"text": "allergic asthma", "start": 222, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "The risk for cancer multiplicity was associated with inactive heterozygous ALDH2 alone (OR = 4. 22) among the risk factors investigated, which also included smoking, less-active alcohol dehydrogenase-1B, and macrocytosis, enhancing the validity of the link between acetaldehyde exposure and cancer multiplicity.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 75, "end": 80}], "disease": [{"text": "smoking", "start": 157, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that MBD3 is not a major target of genetic and epigenetic alteration in these cancers.", "output": {"entities": {"gene": [{"text": "MBD3", "start": 26, "end": 30}], "disease": [{"text": "cancers", "start": 99, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "EPO was not produced in significant amounts by RPE cells under hypoxic conditions, suggesting that other cells and/or transcription factors in the retina are responsible for its production.", "output": {"entities": {"gene": [{"text": "RPE", "start": 47, "end": 50}], "disease": [{"text": "hypoxic", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Low EGFR and high p16 (or higher HPV titer) expression are markers of good response to organ-sparing therapy and outcome, whereas high EGFR expression, combined low p53/high Bcl-xL expression, female sex, and smoking are associated with a poor outcome.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 4, "end": 8}], "disease": [{"text": "smoking", "start": 209, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "There was no correlation between the growth fraction and the severity of epithelial dysplasia found is OSF.", "output": {"entities": {"gene": [{"text": "OSF", "start": 103, "end": 106}], "disease": [{"text": "epithelial dysplasia", "start": 73, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.", "output": {"entities": {"gene": [{"text": "ITSN2", "start": 85, "end": 90}], "disease": [{"text": "breast cancer", "start": 256, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITSN2", "start": 85, "end": 90}, "tail": {"text": "breast cancer", "start": 256, "end": 269}}]}}, "schema": []}
{"input": "Using the MTT assay and cell counting, we demonstrated that treatment of PMA/Io significantly inhibited the proliferation of glioma cell lines, U87 and U251.", "output": {"entities": {"gene": [{"text": "U87", "start": 144, "end": 147}], "disease": [{"text": "glioma", "start": 125, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "This novel DC-SIGN-T (H) 2 pathway initiated by an endogenous ligand, sFc, provides an intrinsic mechanism for maintaining immune homeostasis that could be manipulated to provide therapeutic benefit in autoimmune diseases.", "output": {"entities": {"gene": [{"text": "DC-SIGN", "start": 11, "end": 18}], "disease": [{"text": "autoimmune diseases", "start": 202, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.", "output": {"entities": {"gene": [{"text": "beta-glucuronidase", "start": 110, "end": 128}], "disease": [{"text": "mucopolysaccharidosis type VII", "start": 24, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-glucuronidase", "start": 110, "end": 128}, "tail": {"text": "mucopolysaccharidosis type VII", "start": 24, "end": 54}}]}}, "schema": []}
{"input": "However, biochemical analysis revealed a reduction in citrate synthase-corrected complex I and complex II/III activities in muscle and complex I activity in mitochondrial-enriched fractions from cultured myoblasts, suggesting that either a primary or a secondary defect of respiratory chain function may play an important role in the pathogenesis of the disease.", "output": {"entities": {"gene": [{"text": "citrate synthase", "start": 54, "end": 70}], "disease": [{"text": "secondary", "start": 253, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "RNA interference targeting the DRBP76/NF90 isoform limited hypoxia-inducible VEGF mRNA and protein expression with no change in HIF-1-dependent transcriptional activity.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 77, "end": 81}], "disease": [{"text": "hypoxia", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that VEGF may not be produced in sufficient amounts in chronically hypoxic ALS patients and that this dysfunction may participate in the pathogenesis of the disease.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 25, "end": 29}], "disease": [{"text": "hypoxic", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Treatment with a differentiation modulating agent 5-bromodeoxyuridine (BrdU) led to restoration of HOP expression in a small cell lung cancer cell line H526.", "output": {"entities": {"gene": [{"text": "HOP", "start": 99, "end": 102}], "disease": [{"text": "small cell lung cancer", "start": 119, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Lung injury and inflammation were assessed and pulmonary and hepatic CYP1A1 and CYP1A2 levels were quantified at the enzyme activity, protein and mRNA level.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 69, "end": 75}], "disease": [{"text": "Lung injury", "start": 0, "end": 11}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A1", "start": 69, "end": 75}, "tail": {"text": "Lung injury", "start": 0, "end": 11}}]}}, "schema": []}
{"input": "Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.", "output": {"entities": {"gene": [{"text": "Cathepsin K", "start": 45, "end": 56}], "disease": [{"text": "Pyknodysostosis", "start": 95, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Cathepsin K", "start": 45, "end": 56}, "tail": {"text": "Pyknodysostosis", "start": 95, "end": 110}}]}}, "schema": []}
{"input": "The particular risk factors were analyzed and 6 single nucleotide polymorphisms of diabetic predisposing genes: PAX4 and TCF7L2 were genotyped to evaluate the association between these factors and beta-cell function/insulin sensitivity.", "output": {"entities": {"gene": [{"text": "PAX4", "start": 112, "end": 116}], "disease": [{"text": "insulin sensitivity", "start": 216, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "B27-bearing HLA haplotypes in rheumatoid arthritis: characterization in Finnish patients.", "output": {"entities": {"gene": [{"text": "B27", "start": 0, "end": 3}], "disease": [{"text": "rheumatoid arthritis", "start": 30, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Overall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility.", "output": {"entities": {"gene": [{"text": "LRRN3", "start": 64, "end": 69}], "disease": [{"text": "ASD", "start": 84, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LRRN3", "start": 64, "end": 69}, "tail": {"text": "ASD", "start": 84, "end": 87}}]}}, "schema": []}
{"input": "In addition, the demonstration of gonadal mosaicism in the FBN2 gene is important for accurate genetic counseling of families with sporadic cases of CCA.", "output": {"entities": {"gene": [{"text": "FBN2 gene", "start": 59, "end": 68}], "disease": [{"text": "sporadic", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrated that: (1) Hypoxia, a typical feature of malignant tumor, enhanced the expression of MUC1 mRNA and protein in a human lung adenocarcinoma cell line; (2) the hypoxia-induced increase in MUC1 mRNA was mediated by the transcriptional activity of MUC1 promoter, but not mRNA stability.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 115, "end": 119}], "disease": [{"text": "hypoxia", "start": 187, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "The first group (35 of 57 cases; 61%) had both the CSF1 translocation and high expression of CSF1 RNA, confirming our previous findings.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 51, "end": 55}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We used ribonuclease protection assays to quantify mRNA levels of neuregulin, erbB2, and erbB4 in left ventricular (LV) tissue and myocytes of normal rats and rats with aortic stenosis with pressure-overload hypertrophy 6 and 22 weeks after banding.", "output": {"entities": {"gene": [{"text": "erbB4", "start": 89, "end": 94}], "disease": [{"text": "hypertrophy", "start": 208, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Protein deficiency in normal rats resulted in a significant increase in hepatic activities of catalase, glutathione peroxidase, glutathione reductase, and glutathione-S-transferase and the levels of lipid peroxidation.", "output": {"entities": {"gene": [{"text": "catalase", "start": 94, "end": 102}], "disease": [{"text": "Protein deficiency", "start": 0, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "catalase", "start": 94, "end": 102}, "tail": {"text": "Protein deficiency", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "To evaluate the anti-tumor potential of beta-lapachone in multiple myeloma (MM) cell lines (U266, RPMI8226, and MM. 1S); MM cell lines resistant to dexamethasone (MM. 1R), melphalan (RPMI8226/LR5), doxorubicin (RPMI8226/DOX40), and mitoxantrone (RPMI8226/MR20); and MM cells from patients (MM1-MM4).", "output": {"entities": {"gene": [{"text": "MM1", "start": 290, "end": 293}], "disease": [{"text": "myeloma", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Antenatal inflammation induced TGF-beta1 but suppressed CTGF in preterm lungs.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 56, "end": 60}], "disease": [{"text": "inflammation", "start": 10, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Guided by cDNA microarray analysis of human microvascular endothelial cells (HMEC-1 line) subjected to hypoxia (pO (2) 20 torr, 8 h), we identified adrenomedullin (ADM) as a prominent hypoxia-inducible factor (HIF) that acts on epithelial cells through cell surface receptors.", "output": {"entities": {"gene": [{"text": "ADM", "start": 164, "end": 167}], "disease": [{"text": "hypoxia", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "IQCB1 mutations in patients with leber congenital amaurosis.", "output": {"entities": {"gene": [{"text": "IQCB1", "start": 0, "end": 5}], "disease": [{"text": "leber congenital amaurosis", "start": 33, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IQCB1", "start": 0, "end": 5}, "tail": {"text": "leber congenital amaurosis", "start": 33, "end": 59}}]}}, "schema": []}
{"input": "One with novel DOCK8 deletion had notable cytomegalovirus retinitis, cerebral vasculitis, lead deposition, and amenorrhea.", "output": {"entities": {"gene": [{"text": "DOCK8", "start": 15, "end": 20}], "disease": [{"text": "amenorrhea", "start": 111, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "These data comprise the first report to provide the role of Akt/tuberin/mTORC1/2 in the regulation of N-cadherin and vimentin that are involved in the progression of fibrosis in kidney tumor of TSC patients.", "output": {"entities": {"gene": [{"text": "N-cadherin", "start": 102, "end": 112}], "disease": [{"text": "fibrosis", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking RGS6 exhibit abnormal gait and ataxia characterized by impaired rotarod performance improved by treatment with a GABA (B) R antagonist.", "output": {"entities": {"gene": [{"text": "RGS6", "start": 13, "end": 17}], "disease": [{"text": "abnormal gait", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 31, "end": 47}], "disease": [{"text": "familial defective apolipoprotein B-100", "start": 61, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "apolipoprotein B", "start": 31, "end": 47}, "tail": {"text": "familial defective apolipoprotein B-100", "start": 61, "end": 100}}]}}, "schema": []}
{"input": "Gene expression of NLRP3, CASPASE-1, CD3 & #603; (pan T cells), TBX21 (T (h) 1 cells) and RORC (T (h) 17 cells) was positively, whereas GATA3 (T (h) 2 cells) was inversely correlated with AT inflammation.", "output": {"entities": {"gene": [{"text": "GATA3", "start": 136, "end": 141}], "disease": [{"text": "inflammation", "start": 191, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GATA3", "start": 136, "end": 141}, "tail": {"text": "inflammation", "start": 191, "end": 203}}]}}, "schema": []}
{"input": "Inflammatory HCA occurred more frequently in patients with high body mass index; they can be also mutated for beta-catenin and therefore are probably at risk of HCC.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 110, "end": 122}], "disease": [{"text": "body mass index", "start": 64, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Analysis of filtered gene expression data using Ingenuity Pathways Analysis (Ingenuity Systems, http://www. ingenuity. com) revealed that a number of genes pertaining to neuronal plasticity (RhoA, Rac1, Cdc42, BDNF, and Trk), neurodegeneration (Caspase3, Calpain 1, Bax, a Cytochrome c, and Smac/Diablo), and inflammation/immune-response pathways (TNF-alpha, CCL2, Cox2) were modulated in a temporal fashion after KA treatment.", "output": {"entities": {"gene": [{"text": "Cox2", "start": 365, "end": 369}], "disease": [{"text": "neurodegeneration", "start": 226, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "The genes MUT (methylmalonyl coenzyme A-mutase), RDS (retinal degeneration, slow), CSNK2 beta (casein kinase II, beta subunit), and GSTA1 (glutathione S-transferase alpha, type 1) were excluded as PKHD1 genes using both established and novel intragenic polymorphisms in families with key recombinants.", "output": {"entities": {"gene": [{"text": "MUT", "start": 10, "end": 13}], "disease": [{"text": "retinal degeneration", "start": 54, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Our results show that both insulin sensitivity, as measured from levels of fasting glucose and insulin, and central adiposity, estimated by subscapular skinfold thickness, were significantly associated to genetic variability in TFAP2B.", "output": {"entities": {"gene": [{"text": "TFAP2B", "start": 228, "end": 234}], "disease": [{"text": "insulin sensitivity", "start": 27, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Immunotherapeutic approaches to the treatment of advanced melanoma have relied on strategies that augment the responsiveness of endogenous tumor-specific T-cell populations [eg, cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) blockade-mediated checkpoint inhibition] or introduce exogenously prepared tumor-specific T-cell populations [eg, adoptive cell transfer (ACT)].", "output": {"entities": {"gene": [{"text": "ACT", "start": 369, "end": 372}], "disease": [{"text": "advanced melanoma", "start": 49, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In parallel, quantitative RT-PCR showed BCRP mRNA downregulation in human adenomas (to 17 & #177; 31%).", "output": {"entities": {"gene": [{"text": "BCRP", "start": 40, "end": 44}], "disease": [{"text": "adenomas", "start": 74, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCRP", "start": 40, "end": 44}, "tail": {"text": "adenomas", "start": 74, "end": 82}}]}}, "schema": []}
{"input": "It is associated with the chromosomal translocation, t (17: 22), which fuses the COL1A1 and PDGFbeta genes.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 81, "end": 87}], "disease": [{"text": "chromosomal translocation", "start": 26, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Here, we report for the first time that the expression of the mitochondrial regulators PGC1α and TFAM varies between EOC subtypes; furthermore, we have identified a profile in clear-cell carcinoma consisting of undetectability of PGC1α/TFAM, and low ERα/Ki-67.", "output": {"entities": {"gene": [{"text": "TFAM", "start": 97, "end": 101}], "disease": [{"text": "carcinoma", "start": 187, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Common polymorphisms in SOCS3 are not associated with body weight, insulin sensitivity or lipid profile in normal female twins.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 24, "end": 29}], "disease": [{"text": "body weight", "start": 54, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking functional p47phox, a subunit of NADPH oxidase, had reduced dihydroethidium fluorescence and choroidal neovascularization compared with wild-type controls.", "output": {"entities": {"gene": [{"text": "p47phox", "start": 24, "end": 31}], "disease": [{"text": "choroidal neovascularization", "start": 106, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We suggest that cycles of alcohol intoxication/withdrawal, which may initially activate NF-kappaB, when repeated over years downregulate RELA expression and NF-kappaB and p50 homodimer DNA-binding.", "output": {"entities": {"gene": [{"text": "RELA", "start": 137, "end": 141}], "disease": [{"text": "alcohol intoxication", "start": 26, "end": 46}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RELA", "start": 137, "end": 141}, "tail": {"text": "alcohol intoxication", "start": 26, "end": 46}}]}}, "schema": []}
{"input": "It was found that Vitamin A, retinoid acid and a few other immune response agents modulated by RARA and LCK genes may be potential treatments for both schizophrenia and hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "RARA", "start": 95, "end": 99}], "disease": [{"text": "schizophrenia", "start": 151, "end": 164}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RARA", "start": 95, "end": 99}, "tail": {"text": "schizophrenia", "start": 151, "end": 164}}]}}, "schema": []}
{"input": "Nell-1 overexpression induced calvarial overgrowth and resulted in premature suture closure in a rodent model.", "output": {"entities": {"gene": [{"text": "Nell-1", "start": 0, "end": 6}], "disease": [{"text": "premature suture closure", "start": 67, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nell-1", "start": 0, "end": 6}, "tail": {"text": "premature suture closure", "start": 67, "end": 91}}]}}, "schema": []}
{"input": "The systemic antimetastatic effect of IL-2 contrasted with the negligible effect of IL-2 on the s. c. MK16 tumour inoculum.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 38, "end": 42}], "disease": [{"text": "tumour", "start": 107, "end": 113}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-2", "start": 38, "end": 42}, "tail": {"text": "tumour", "start": 107, "end": 113}}]}}, "schema": []}
{"input": "Several important traits that mediate malignancy were altered by IFIT3: increased VEGF and IL-6 secretion, chemoresistance and decreased starvation-induced apoptosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 82, "end": 86}], "disease": [{"text": "starvation", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Naïve patients with mild fibrosis and the IL28B CC polymorphism and/or with a rapid virological response (RVR) to DT can still benefit from DT, while TT is preferable in all others.", "output": {"entities": {"gene": [{"text": "IL28B", "start": 42, "end": 47}], "disease": [{"text": "mild", "start": 20, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "A novel coexpression and integrated pathway network analysis indicated Prkaa2, Pdk2, Rhoj, and Sgcb are likely to play a central role in the pathophysiology of murine progressive cardiomyopathy in C3H/HeJ mice.", "output": {"entities": {"gene": [{"text": "Pdk2", "start": 79, "end": 83}], "disease": [{"text": "cardiomyopathy", "start": 179, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pdk2", "start": 79, "end": 83}, "tail": {"text": "cardiomyopathy", "start": 179, "end": 193}}]}}, "schema": []}
{"input": "We observed significant interaction between 5 SNPs and smoking on AHR, and 3 interacted with smoking in relation to asthma with AHR (rs4795404, rs4795408, rs3859192).", "output": {"entities": {"gene": [{"text": "AHR", "start": 66, "end": 69}], "disease": [{"text": "smoking", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "sEphB4-HSA reduced blood vessel density, pericyte recruitment, vessel perfusion, and increased hypoxia, with an associated increase in VEGF and DLL4 expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 135, "end": 139}], "disease": [{"text": "hypoxia", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The heparan sulfate proteoglycan glypican-1 is essential as a co-receptor for heparin binding growth factors, such as HB-EGF and FGF-2, in pancreatic cancer cells.", "output": {"entities": {"gene": [{"text": "heparan sulfate proteoglycan", "start": 4, "end": 32}], "disease": [{"text": "pancreatic cancer", "start": 139, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "In females, the average body weight was 13. 6 kg more (95% CI, 1. 11-26. 1) in the LEPR 223QQ group compared with the LEPR 223RR group.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 83, "end": 87}], "disease": [{"text": "body weight", "start": 24, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that, in bronchial epithelial cells, CSE promote a prevalent induction of pro-inflammatory BLT2 receptors and activate mechanisms leading to increased neutrophil adhesion, a mechanism that contributes to airway neutrophilia and to tissue damage.", "output": {"entities": {"gene": [{"text": "BLT2", "start": 114, "end": 118}], "disease": [{"text": "adhesion", "start": 185, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Patient genotypes for CYP2B6 (* 6 & * 11), CYP3A5 (* 3, * 6 & * 7) and ABCB1 c. 4046A > G, baseline biochemistries and CD4 and viral load change from baseline were determined.", "output": {"entities": {"gene": [{"text": "CYP3A5", "start": 43, "end": 49}], "disease": [{"text": "viral load", "start": 127, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Together with the previous report describing three cases of non-NBCCS medulloblastoma carrying a germline mutation in this gene, individuals with a SUFU germline mutation are expected to have a markedly high risk of developing medulloblastoma and probably meningioma.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 148, "end": 152}], "disease": [{"text": "NBCCS", "start": 64, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUFU", "start": 148, "end": 152}, "tail": {"text": "NBCCS", "start": 64, "end": 69}}]}}, "schema": []}
{"input": "Several recent studies have reported an association between the serotonin transporter 5HTTLPR (s-allele) and aggression; however, non-replications have also been reported.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 64, "end": 85}], "disease": [{"text": "aggression", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Additionally, the expression of septin 7 and OPA1, proteins downstream of truncated p35, is decreased in schizophrenia.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 45, "end": 49}], "disease": [{"text": "schizophrenia", "start": 105, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPA1", "start": 45, "end": 49}, "tail": {"text": "schizophrenia", "start": 105, "end": 118}}]}}, "schema": []}
{"input": "An enzyme immunoassay showed that the VEGF concentration in corpus callosum was significantly higher up to 7 days after hypoxic exposure.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 38, "end": 42}], "disease": [{"text": "hypoxic", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "We further correlated HDAC levels with clinical features in PMF: there was no correlation with WBC, platelet counts, Hb levels or degree of bone marrow fibrosis, but HDAC levels were correlated to the degree of splenomegaly.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 22, "end": 26}], "disease": [{"text": "splenomegaly", "start": 211, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "While mutations in Cx43 are mostly linked to oculodentodigital dysplasia, Cx47 mutations are associated with Pelizaeus-Merzbacher-like disease and lymphoedema.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 19, "end": 23}], "disease": [{"text": "lymphoedema", "start": 147, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Within the bupropion group, subgroup analyses with stratification by genotype demonstrated that craving, irritability, and anxiety were significantly attenuated only among subjects with DRD2-Taq1 A2/A2 genotypes.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 186, "end": 190}], "disease": [{"text": "irritability", "start": 105, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In view of the hypothesis that NKG2C could be directly involved in NK cell maturation driven by HCMV infection, we analyzed the maturation and function of NK cells developing in three patients with hematological malignancies given umbilical cord blood transplantation from donors carrying a homozygous deletion of the NKG2C gene.", "output": {"entities": {"gene": [{"text": "NKG2C", "start": 31, "end": 36}], "disease": [{"text": "hematological malignancies", "start": 198, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "PDGFR-& #946; promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM.", "output": {"entities": {"gene": [{"text": "PDGFR", "start": 0, "end": 5}], "disease": [{"text": "IM", "start": 118, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDGFR", "start": 0, "end": 5}, "tail": {"text": "IM", "start": 118, "end": 120}}]}}, "schema": []}
{"input": "In this study, a MIR emitter with emission wavelength band in the 3-5 µm region was developed to irradiate A549 lung adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "MIR", "start": 17, "end": 20}], "disease": [{"text": "lung adenocarcinoma", "start": 112, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Quantitatively, the rate of elastin synthesis in desmoid tumor cells monitored by valine-proline peptide was also significantly higher than in HSF.", "output": {"entities": {"gene": [{"text": "HSF", "start": 143, "end": 146}], "disease": [{"text": "desmoid tumor", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer' s or dementia.", "output": {"entities": {"gene": [{"text": "ADAMTS1", "start": 97, "end": 104}], "disease": [{"text": "LOAD", "start": 23, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADAMTS1", "start": 97, "end": 104}, "tail": {"text": "LOAD", "start": 23, "end": 27}}]}}, "schema": []}
{"input": "However, the clinical course of the patient was mild, and he responded to Cu-His treatment, which suggests that this mutation leads to partial conservation of the activity of ATP7A.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 175, "end": 180}], "disease": [{"text": "mild", "start": 48, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "This study was to detect 12 BCL3-PVRL2-TOMM40 SNPs, gene-gene and gene-environment interactions on dyslipidemia in the Chinese Maonan population.", "output": {"entities": {"gene": [{"text": "TOMM40", "start": 39, "end": 45}], "disease": [{"text": "dyslipidemia", "start": 99, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TOMM40", "start": 39, "end": 45}, "tail": {"text": "dyslipidemia", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "BCAR3", "start": 49, "end": 54}], "disease": [{"text": "breast tumors", "start": 142, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCAR3", "start": 49, "end": 54}, "tail": {"text": "breast tumors", "start": 142, "end": 155}}]}}, "schema": []}
{"input": "In a recent study, Thapar and colleagues reported that COMT \" gene variant and birth weight predict early-onset antisocial behavior in children \" with attention-deficit/hyperactivity disorder.", "output": {"entities": {"gene": [{"text": "COMT", "start": 55, "end": 59}], "disease": [{"text": "birth weight", "start": 79, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We report a new class of molecular lesions in the 5' region of the BCL2 protooncogene when it undergoes a t (14; 18) translocation-associated rearrangement in the major break cluster (MBR) or minor break cluster (MCR) regions.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 67, "end": 71}], "disease": [{"text": "translocation", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show that EGFR gene status and smoking are predict the efficacy of treatment with microtubule inhibitors in NSCLC.", "output": {"entities": {"gene": [{"text": "EGFR gene", "start": 28, "end": 37}], "disease": [{"text": "smoking", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Our data reveals a novel mechanism by which the interactions of HMGB1 and mtDNA activate TLR9 signaling during hypoxia to induce tumor growth.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 64, "end": 69}], "disease": [{"text": "hypoxia", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In contrast to the 25% frequency reported for other regions the low risk molecular subtype characterized by the TEL/AML1 translocation represented a comparatively smaller fraction (4/46) in this study.", "output": {"entities": {"gene": [{"text": "AML1", "start": 116, "end": 120}], "disease": [{"text": "translocation", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Previous studies have found heterogeneous association between DAT1-3'-UTR-VNTR and attention deficit hyperactivity disorder (ADHD).", "output": {"entities": {"gene": [{"text": "UTR", "start": 70, "end": 73}], "disease": [{"text": "attention deficit hyperactivity disorder", "start": 83, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Together, these findings demonstrate that hypoxic induction of Ero1-L alpha is the key adaptive response in a previously unrecognized HIF-1-mediated pathway that operates to improve protein secretion under hypoxia and might be harnessed for inhibiting tumor growth via inhibiting VEGF-driven angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 280, "end": 284}], "disease": [{"text": "hypoxia", "start": 206, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Association study of adrenergic beta3 receptor (Trp64Arg) and G-protein beta3 subunit gene (C825T) polymorphisms and weight change during clozapine treatment.", "output": {"entities": {"gene": [{"text": "beta3", "start": 32, "end": 37}], "disease": [{"text": "weight change", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "These include the Patatin-like phosholipase domain-containing 3 (PNPLA3) gene variant I148M as a major determinant of inter-individual and ethnicity-related differences in hepatic fat content independent of insulin resistance and serum lipid concentration.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 65, "end": 71}], "disease": [{"text": "insulin resistance", "start": 207, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "In contrast, hyperthyroid patients presented increased clonogenic growth and BFU-E number and significantly higher expressions of cell cycle-regulating genes such as those for PCNA and cyclin D1.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 185, "end": 194}], "disease": [{"text": "hyperthyroid", "start": 13, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Reduction of TAF12 levels by small interfering RNA treatment induced a destabilization of the TFIID complex, enhanced E-cadherin mRNA and protein levels, and reduced migration and adhesion properties of RAS-transformed cells with epithelial to mesenchymal transition.", "output": {"entities": {"gene": [{"text": "TAF12", "start": 13, "end": 18}], "disease": [{"text": "adhesion", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Post-heparin TFPI activity levels were significantly lower in the group of patients with venous thrombosis than in controls (mean +/-SD: 230% +/-39 vs 260% +/-34, p = 0. 0002), whereas there was no difference for patients with arterial thrombosis.", "output": {"entities": {"gene": [{"text": "TFPI", "start": 13, "end": 17}], "disease": [{"text": "arterial thrombosis", "start": 227, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Targeted somatic mutation of the BCL6 proto-oncogene and its impact on lymphomagenesis.", "output": {"entities": {"gene": [{"text": "BCL6", "start": 33, "end": 37}], "disease": [{"text": "somatic mutation", "start": 9, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The results of the study suggest that Rac1 GTPase has a critical role in mediating ischemia/reperfusion injury-induced NADPH oxidase activation, ROS generation and oxidative stress in the hippocampal CA1 region of the rat, and thus contributes significantly to neuronal degeneration and cognitive dysfunction following cerebral ischemia.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 38, "end": 42}], "disease": [{"text": "ischemia", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The AML1 gene was identified in 1991 by cloning the t (8; 21) chromosome translocation associated with FAB M2 acute myeloid leukemia (AML).", "output": {"entities": {"gene": [{"text": "AML1", "start": 4, "end": 8}], "disease": [{"text": "chromosome translocation", "start": 62, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "FAK, p38, c-Src and ERK1/2 phosphorylation were assessed by Western blot in adherent cells and in cells prevented from adhesion by plating unto BSA-pacificated dishes.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 20, "end": 24}], "disease": [{"text": "adhesion", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "A novel p. G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.", "output": {"entities": {"gene": [{"text": "BFSP2", "start": 29, "end": 34}], "disease": [{"text": "pulverulent cataract", "start": 70, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BFSP2", "start": 29, "end": 34}, "tail": {"text": "pulverulent cataract", "start": 70, "end": 90}}]}}, "schema": []}
{"input": "Similarly, CMS-9 augmented adaphostin toxicity in human leukaemia K562 cells via increased mitochondrial alterations.", "output": {"entities": {"gene": [{"text": "CMS", "start": 11, "end": 14}], "disease": [{"text": "leukaemia", "start": 56, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "This work provides significant implications for the Pax4 gene as one of the predisposing genes for type 2 diabetes in the Japanese.", "output": {"entities": {"gene": [{"text": "Pax4", "start": 52, "end": 56}], "disease": [{"text": "type 2 diabetes", "start": 99, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Pax4", "start": 52, "end": 56}, "tail": {"text": "type 2 diabetes", "start": 99, "end": 114}}]}}, "schema": []}
{"input": "We recently reported depression-like behavior in the forced swimming test in PACAP deficient mice.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 77, "end": 82}], "disease": [{"text": "depression", "start": 21, "end": 31}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PACAP", "start": 77, "end": 82}, "tail": {"text": "depression", "start": 21, "end": 31}}]}}, "schema": []}
{"input": "Over 50 human PAX3 mutations that lead to hearing, craniofacial, limb, and pigmentation anomalies have been identified.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 14, "end": 18}], "disease": [{"text": "pigmentation", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In addition, we discovered novel genetic variants, which could explain the testicular dysgenesis observed in the patient, a maternally inherited 167-kb duplication of DAAM2 and MOCS1 genes and a de novo LRRC33/NRROS gene mutation.", "output": {"entities": {"gene": [{"text": "NRROS gene", "start": 210, "end": 220}], "disease": [{"text": "testicular dysgenesis", "start": 75, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In addition, we investigated the influence of CCK gene polymorphism on alcohol consumption among the control subjects but found no significant relationship.", "output": {"entities": {"gene": [{"text": "CCK gene", "start": 46, "end": 54}], "disease": [{"text": "alcohol consumption", "start": 71, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Clinical features include seizures, psychomotor deterioration, and blindness, the ages and order of onset of which differ for each NCL type.", "output": {"entities": {"gene": [{"text": "NCL", "start": 131, "end": 134}], "disease": [{"text": "seizures", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In addition, MR activation attenuates the expression of the VEGF receptor 2/KDR, possibly dampening the activation of a VEGFA/KDR dependent signaling pathway important for the survival of tumor cells under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 120, "end": 125}], "disease": [{"text": "hypoxic", "start": 206, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "In ERA, SF IL-17 correlated with number of swollen joints (r = 0. 35; p < 0. 05), number of joints with limited mobility (r = 0. 55; p < 0. 001), and number of tender joints (r = 0. 46; p < 0. 01); however, no correlation was seen with erythrocyte sedimentation rate.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 11, "end": 16}], "disease": [{"text": "swollen joints", "start": 43, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "These observations imply that mutations in the death domains of FAS, FADD, TNFR, TRADD, and RIP and in the protease domain of caspase 10 are not a major cause for failure of apoptosis in hematological malignancies, mainly CML and CLL.", "output": {"entities": {"gene": [{"text": "FADD", "start": 69, "end": 73}], "disease": [{"text": "hematological malignancies", "start": 187, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "In dermatomyositis, HIF-1alpha and HIF-1beta were found in endothelial cells, whereas HIF-2alpha, erythropoietin-receptor, VEGF and VEGF-R additionally were observed in muscle fibers.", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 20, "end": 30}], "disease": [{"text": "dermatomyositis", "start": 3, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Apigenin inhibits HIF-1α, GLUT-1, and VEGF mRNA and protein expression in pancreatic cancer cells in both normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 38, "end": 42}], "disease": [{"text": "hypoxic", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Overall, our data suggest that miR-137 regulates growth of glioma cells and targets CSE1L, providing further understanding in the tumorigenesis of gliomas.", "output": {"entities": {"gene": [{"text": "CSE1L", "start": 84, "end": 89}], "disease": [{"text": "gliomas", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Cross-sectional studies show that all four parameters correlate with body size: RMR vs. fat-free mass (FFM), r = 0. 87, P < 0. 0001; energy cost of SPA vs. weight, r = 0. 69, P < 0. 001; RQ vs. body fat, r =-0. 23, P < 0. 05; IS vs. weight, r =-0. 38, P < 0. 001.", "output": {"entities": {"gene": [{"text": "SPA", "start": 148, "end": 151}], "disease": [{"text": "weight", "start": 156, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "While Pds5A (-/-) and Pds5B (-/-) mice die at birth, embryos harboring 3 mutant Pds5 alleles die between E11. 5 and E12. 5 most likely of heart failure, indicating that total Pds5 gene dosage is critical for normal development.", "output": {"entities": {"gene": [{"text": "E12", "start": 116, "end": 119}], "disease": [{"text": "heart failure", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Human glioma cell lines (U251, U87, LN229 and A172) were transfected with miR-451 mimics to restore miR-451 expression.", "output": {"entities": {"gene": [{"text": "U87", "start": 31, "end": 34}], "disease": [{"text": "glioma", "start": 6, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Of the 13 cases that were Bcl-2 negative with alternative antibodies, 12 lacked the t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 26, "end": 31}], "disease": [{"text": "translocation", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The effects of VIP microinjected unilaterally (left or right) into the hippocampal CA1 area at a dose of 10 and 100 ng or bilaterally (10 ng), on nociception of male Wistar rats with a model of depression (bilateral olfactory bulbectomy-OBX) were studied.", "output": {"entities": {"gene": [{"text": "CA1", "start": 83, "end": 86}], "disease": [{"text": "depression", "start": 194, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.", "output": {"entities": {"gene": [{"text": "PPP3CA", "start": 41, "end": 47}], "disease": [{"text": "ADC", "start": 75, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPP3CA", "start": 41, "end": 47}, "tail": {"text": "ADC", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "In an effort to resolve this difference, the present study examined noncultured melanocytic lesions (i. e., 5 benign nevi, 10 dysplastic nevi, and 8 primary melanomas: 4 in situ and 4 invasive) for point mutations at codon 12 in the first exon of the Ki-ras proto-oncogene using polymerase chain reaction methodology with oligonucleotide hybridization and direct DNA sequencing.", "output": {"entities": {"gene": [{"text": "Ki-ras", "start": 251, "end": 257}], "disease": [{"text": "dysplastic nevi", "start": 126, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Transthyretin (TTR) is a human disease-associated amyloidogenic protein that has been implicated in senile systemic amyloidosis (SSA) and familial amyloidotic polyneuropathy (FAP).", "output": {"entities": {"gene": [{"text": "SSA", "start": 129, "end": 132}], "disease": [{"text": "polyneuropathy", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "C57BL/6J mice transplanted with RasGRP4-transduced primary bone marrow cells died of T cell leukemia, myeloid leukemia, or myeloid leukemia with T cell leukemia.", "output": {"entities": {"gene": [{"text": "RasGRP4", "start": 32, "end": 39}], "disease": [{"text": "myeloid leukemia", "start": 102, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Thus, the Wolfram syndrome in patients investigated here is caused by reduced protein dosage rather than dysfunction of the mutant wolframin.", "output": {"entities": {"gene": [{"text": "wolframin", "start": 131, "end": 140}], "disease": [{"text": "Wolfram syndrome", "start": 10, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "wolframin", "start": 131, "end": 140}, "tail": {"text": "Wolfram syndrome", "start": 10, "end": 26}}]}}, "schema": []}
{"input": "Notably, the chemokine RANTES measured the highest serum level showing an increased gradient of concentration from healthy subjects to Asb-workers and MM patients (p & lt; 0. 001), independently of SV40 infection.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 23, "end": 29}], "disease": [{"text": "MM", "start": 151, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RANTES", "start": 23, "end": 29}, "tail": {"text": "MM", "start": 151, "end": 153}}]}}, "schema": []}
{"input": "We also evaluated the gene expression of CD34, a measure of microvessel density (MVD), as well as CD68, MMP-9, and cathepsin K, genes of major importance in plaque vulnerability.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 115, "end": 126}], "disease": [{"text": "plaque", "start": 157, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, Western blotting and immunohistochemistry revealed that aromatase protein concentrations in the GDM placentae were significantly reduced without a change in mRNA levels.", "output": {"entities": {"gene": [{"text": "aromatase", "start": 71, "end": 80}], "disease": [{"text": "GDM", "start": 111, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "aromatase", "start": 71, "end": 80}, "tail": {"text": "GDM", "start": 111, "end": 114}}]}}, "schema": []}
{"input": "Perinatal abnormalities, including nuchal translucency, fetal hydrops, pleural effusion, or chylothorax and congenital heart defects, are observed in all RIT1 mutation-positive patients.", "output": {"entities": {"gene": [{"text": "RIT1", "start": 154, "end": 158}], "disease": [{"text": "fetal hydrops", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that microsatellite instability may not be associated with frameshift mutations in the MBD4 gene, and that the MBD4 codon 346 polymorphism may play arole in colorectal cancer susceptibility in the Korean population.", "output": {"entities": {"gene": [{"text": "MBD4", "start": 108, "end": 112}], "disease": [{"text": "microsatellite instability", "start": 26, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The (12; 21) translocation resulting in TEL/AML1 gene fusion is present in about 25% of childhood precursor B-lineage acute lymphoblastic leukemia (ALL) and is associated with a good prognosis and a high cellular sensitivity to L-asparaginase (L-Asp).", "output": {"entities": {"gene": [{"text": "AML1", "start": 44, "end": 48}], "disease": [{"text": "translocation", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF), a known target gene of HIF-1α, has been shown to be induced by hypoxia through a HIF-1α-independent pathway.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxia", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The FHIT transcript was not detectable in two of 11 primary cultures derived from normal ovarian surface epithelium or in a primary culture derived from malignant ovarian ascites, whereas the remaining samples (34 malignant, eight borderline, and three benign specimens), exhibited identical expression patterns.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 4, "end": 8}], "disease": [{"text": "ascites", "start": 171, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "VEGF mRNAs were highly tumor specific, with the highest levels near necrotic regions within the tissues (0. 1 to 2. 7 dpm/mm2).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "necrotic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "By direct sequencing of the SGCE gene coding regions, we identified a small heterozygous deletion (c. 842delA) in exon 7 of the three sibs and asymptomatic father in the first family and an eight-base heterozygous deletion (c. 524_531del) in exon 5 of the mother and a daughter in the second family.", "output": {"entities": {"gene": [{"text": "SGCE gene", "start": 28, "end": 37}], "disease": [{"text": "asymptomatic", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.", "output": {"entities": {"gene": [{"text": "propionyl-CoA carboxylase beta subunit", "start": 6, "end": 44}], "disease": [{"text": "propionic acidemia", "start": 126, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "propionyl-CoA carboxylase beta subunit", "start": 6, "end": 44}, "tail": {"text": "propionic acidemia", "start": 126, "end": 144}}]}}, "schema": []}
{"input": "In leptin receptor-deficient obese Zucker rats, with 75% higher body weight than lean littermates, GALP mRNA levels in the ARC were decreased by 75%, while neuropeptide Y (NPY) mRNA levels were increased 7-fold (n = 5, p < 0. 001), consistent with earlier reports.", "output": {"entities": {"gene": [{"text": "GALP", "start": 99, "end": 103}], "disease": [{"text": "body weight", "start": 64, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "It has previously been demonstrated that susceptibility to pemphigus vulgaris is associated with human leukocyte antigen (HLA)-DR4 serologic specificity among Ashkenase Jews, and with DR4 as well as DR6 (DR14) in other ethnic groups.", "output": {"entities": {"gene": [{"text": "DR4", "start": 127, "end": 130}], "disease": [{"text": "pemphigus vulgaris", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In the mutant group, body mass index, weight, fat mass, waist-to-hip ratio, waist circumference, and C-reactive protein levels were higher than in the wild-type group.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 101, "end": 119}], "disease": [{"text": "waist-to-hip ratio", "start": 56, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The high mobility group A2 (HMGA2)-lipoma preferred partner (LPP) and the reciprocal LPP-HMGA2 represent such fusion genes in lipoma, while the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) and the Ewing sarcoma (EWS)-CHOP in liposarcoma.", "output": {"entities": {"gene": [{"text": "EWS", "start": 270, "end": 273}], "disease": [{"text": "lipoma", "start": 35, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "CLCNKB", "start": 192, "end": 198}], "disease": [{"text": "hyperlipidemia", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Another translocation was found with the probe pFL-2 hybridizing with a region located about 20 kb 3' from BCL2.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 107, "end": 111}], "disease": [{"text": "translocation", "start": 8, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we report ASS mutations detected in 35 additional CTLN1 families from 11 countries.", "output": {"entities": {"gene": [{"text": "ASS", "start": 32, "end": 35}], "disease": [{"text": "CTLN1", "start": 72, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASS", "start": 32, "end": 35}, "tail": {"text": "CTLN1", "start": 72, "end": 77}}]}}, "schema": []}
{"input": "Macrophage migration inhibitory factor (MIF) is a key proinflammatory mediator, which plays a pivotal role in inflammatory and immune diseases.", "output": {"entities": {"gene": [{"text": "MIF", "start": 40, "end": 43}], "disease": [{"text": "immune diseases", "start": 127, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, a coordinately high expression of both manganese-superoxide dismutase (Mn-SOD) and catalase predicted even more favorable outcome of the mesothelioma patients.", "output": {"entities": {"gene": [{"text": "catalase", "start": 96, "end": 104}], "disease": [{"text": "mesothelioma", "start": 150, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "catalase", "start": 96, "end": 104}, "tail": {"text": "mesothelioma", "start": 150, "end": 162}}]}}, "schema": []}
{"input": "We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity.", "output": {"entities": {"gene": [{"text": "FTO", "start": 49, "end": 52}], "disease": [{"text": "cutaneous photosensitivity", "start": 153, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.", "output": {"entities": {"gene": [{"text": "NEDD4L", "start": 32, "end": 38}], "disease": [{"text": "periventricular nodular heterotopia", "start": 87, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NEDD4L", "start": 32, "end": 38}, "tail": {"text": "periventricular nodular heterotopia", "start": 87, "end": 122}}]}}, "schema": []}
{"input": "In addition, ABCB1 polymorphisms were connected with increased risk of liver dysfunction and infection (P < 0. 05).", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 13, "end": 18}], "disease": [{"text": "liver dysfunction", "start": 71, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "This study presents the results of screening the ATP7B gene by SSCP and sequencing in order to define the spectrum of mutations seen in British referrals for WD.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 49, "end": 54}], "disease": [{"text": "WD", "start": 158, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 49, "end": 54}, "tail": {"text": "WD", "start": 158, "end": 160}}]}}, "schema": []}
{"input": "These data provide the first comprehensive and quantitative analysis of the expression and localisation of MMPs and their inhibitors in human prostate cancer, leading to the identification of several genes involved in proteolysis as potential prognostic indicators, in particular hepsin, MTSP1, MMP26, PAI1, uPAR, MMP15, TIMP3, TIMP4, maspin and RECK.", "output": {"entities": {"gene": [{"text": "MMP15", "start": 314, "end": 319}], "disease": [{"text": "prostate cancer", "start": 142, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Microscopic examination of both retinal pigment epithelium (RPE) and skin melanocytes shows the presence of large pigment granules called giant melanosomes or macromelanosomes.", "output": {"entities": {"gene": [{"text": "RPE", "start": 60, "end": 63}], "disease": [{"text": "giant", "start": 138, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Our analysis showed that 7 of them involved CBFA2 and new translocation partners.", "output": {"entities": {"gene": [{"text": "CBFA2", "start": 44, "end": 49}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Combined analysis of promoter methylation and the allelic state in these cell lines indicated that the TSLC1 gene was often silenced not only by mono-allelic methylation associated with loss of the other allele but also through bi-allelic methylation.", "output": {"entities": {"gene": [{"text": "TSLC1", "start": 103, "end": 108}], "disease": [{"text": "mono", "start": 145, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2 + channel gene CACNL1A4.", "output": {"entities": {"gene": [{"text": "CACNL1A4", "start": 106, "end": 114}], "disease": [{"text": "episodic ataxia type-2", "start": 33, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNL1A4", "start": 106, "end": 114}, "tail": {"text": "episodic ataxia type-2", "start": 33, "end": 55}}]}}, "schema": []}
{"input": "Here, we will discuss the different inflammatory signaling pathways (e. g., VHL, hypoxia, TNF-α, STAT, and TGF-β) and the downstream transcription factors, cytokines, and chemokines involved in tumor development, and disease progression.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 107, "end": 112}], "disease": [{"text": "hypoxia", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Some ovarian cancer cells were found in a G0 quiescent state, with the highest fraction in a line with an amplified Mirk gene.", "output": {"entities": {"gene": [{"text": "Mirk", "start": 116, "end": 120}], "disease": [{"text": "ovarian cancer", "start": 5, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mirk", "start": 116, "end": 120}, "tail": {"text": "ovarian cancer", "start": 5, "end": 19}}]}}, "schema": []}
{"input": "Increases of vascular endothelial growth factor (VEGF), hypoxia induced factor (HIF), and ubiquitin are found in ocular hemangioblastomas. Interestingly, tumorlet cells, which are composed of poorly differentiated small cells with prominent dark nuclei and little cytoplasm, as well as several stem cell markers, such as erythropoietin (Epo), Epo receptor (EpoR), and CD133, are present in ocular VHL lesions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "This model would be useful for studying the mechanism of HER2 involvement in lung carcinogenesis and for understanding the relationship between carcinogenesis and inflammation.", "output": {"entities": {"gene": [{"text": "HER2", "start": 57, "end": 61}], "disease": [{"text": "inflammation", "start": 163, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "NS-3 improved amnesia caused by scopolamine, electroconvulsive shock (ECS), and cycloheximide (CXM), but TRH improved only the ECS-induced amnesia.", "output": {"entities": {"gene": [{"text": "TRH", "start": 105, "end": 108}], "disease": [{"text": "amnesia", "start": 14, "end": 21}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRH", "start": 105, "end": 108}, "tail": {"text": "amnesia", "start": 14, "end": 21}}]}}, "schema": []}
{"input": "Given the phenotypic overlap of individuals with CFZS, MBS, and NAM, we screened STAC3 in 12 individuals diagnosed with CFZS and in 50 individuals diagnosed with MBS or a congenital facial weakness disorder.", "output": {"entities": {"gene": [{"text": "STAC3", "start": 81, "end": 86}], "disease": [{"text": "NAM", "start": 64, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STAC3", "start": 81, "end": 86}, "tail": {"text": "NAM", "start": 64, "end": 67}}]}}, "schema": []}
{"input": "Intravascular delivery of a replication-deficient adenoviral vector (AV) encoding this p27-p16 fusion protein, named W9, inhibited balloon injury-induced neointimal hyperplasia in rabbit carotid arteries.", "output": {"entities": {"gene": [{"text": "p27", "start": 87, "end": 90}], "disease": [{"text": "hyperplasia", "start": 165, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "None of the individual SP-B genotypes or genotype combinations were associated with reduced forced expiratory volume in 1 s (FEV₁)% predicted, forced vital capacity (FVC)% pred and FEV₁/FVC overall or among smokers (p = 0. 25-0. 99).", "output": {"entities": {"gene": [{"text": "SP-B", "start": 23, "end": 27}], "disease": [{"text": "forced expiratory volume", "start": 92, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "], 2 with acute lymphocytic leukemia [ALL], and 2 with acute mixed lineage leukemia [AMLL]) treated with conventional chemotherapy (CHT) and 23 patients (13 AML, 5 ALL, and 5 with chronic myeloid leukemia [CML]) treated with allogeneic bone marrow transplantation (BMT) were monitored for WT1 expression levels in BM and peripheral blood (PB) by reverse transcriptase-polymerase chain reaction over a long-term period (mean, 29 months for CHT and 24 months for BMT).", "output": {"entities": {"gene": [{"text": "CHT", "start": 132, "end": 135}], "disease": [{"text": "chronic myeloid leukemia", "start": 180, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "We conducted a case-control study to examine possible interaction between smoking and aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism (rs671) on the risk of lung cancer in Japanese.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 112, "end": 117}], "disease": [{"text": "smoking", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Activation of PTK cascades in keloid fibroblasts is thought to be closely linked to abnormal cell proliferation and migration.", "output": {"entities": {"gene": [{"text": "PTK", "start": 14, "end": 17}], "disease": [{"text": "keloid", "start": 30, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Gene-based tests revealed association between common variants in 3 MIR185 target genes (ATAT1, SH3PXD2A, NTRK3) and schizophrenia.", "output": {"entities": {"gene": [{"text": "SH3PXD2A", "start": 95, "end": 103}], "disease": [{"text": "schizophrenia", "start": 116, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SH3PXD2A", "start": 95, "end": 103}, "tail": {"text": "schizophrenia", "start": 116, "end": 129}}]}}, "schema": []}
{"input": "In multivariate analysis, only T stadium and TMEM27 staining showed a significant association with postoperative cancer-specific death (p < 0. 001).", "output": {"entities": {"gene": [{"text": "TMEM27", "start": 45, "end": 51}], "disease": [{"text": "cancer", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Genetic association studies have implicated the TSNAX/DISC1 (disrupted in schizophrenia 1) in schizophrenia (SCZ), bipolar affective disorder (BPAD) and major depression.", "output": {"entities": {"gene": [{"text": "TSNAX/DISC1", "start": 48, "end": 59}], "disease": [{"text": "schizophrenia 1", "start": 74, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TSNAX/DISC1", "start": 48, "end": 59}, "tail": {"text": "schizophrenia 1", "start": 74, "end": 89}}]}}, "schema": []}
{"input": "This treatment enhanced PTEN expression, cdc42 activation and rescued dysmorphogenesis by restoring single lumen formation in Caco-2 ShPTEN glands.", "output": {"entities": {"gene": [{"text": "cdc42", "start": 41, "end": 46}], "disease": [{"text": "dysmorphogenesis", "start": 70, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Fifteen FAP patients, mean age 37 +/-7. 7 years, mean disease duration 5. 2 +/-2. 2 years, all males, complaining of sexual dysfunction were studied with pudendal evoked potentials (PEP), bulbocavernous reflex (BCR) and sympathetic skin response (SSR).", "output": {"entities": {"gene": [{"text": "PEP", "start": 182, "end": 185}], "disease": [{"text": "sexual dysfunction", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "We report 12 abnormalities of the Btk gene found in 12 unrelated families out of 14 XLA families in Japan and their clinical features.", "output": {"entities": {"gene": [{"text": "Btk", "start": 34, "end": 37}], "disease": [{"text": "XLA", "start": 84, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Btk", "start": 34, "end": 37}, "tail": {"text": "XLA", "start": 84, "end": 87}}]}}, "schema": []}
{"input": "We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA (1) family to human neurologic disease.", "output": {"entities": {"gene": [{"text": "DDHD2", "start": 26, "end": 31}], "disease": [{"text": "SPG54", "start": 70, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DDHD2", "start": 26, "end": 31}, "tail": {"text": "SPG54", "start": 70, "end": 75}}]}}, "schema": []}
{"input": "Taken together, our study implicates BCL2L1 and DLC1 as potential druggable targets for specific subsets of GC cases.", "output": {"entities": {"gene": [{"text": "DLC1", "start": 48, "end": 52}], "disease": [{"text": "GC", "start": 108, "end": 110}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "DLC1", "start": 48, "end": 52}, "tail": {"text": "GC", "start": 108, "end": 110}}]}}, "schema": []}
{"input": "Multiple linear regression analysis also revealed significant association of an ADIPOQ variant (AD/rs12495941) with total body weight (P =. 010), waist (P =. 024), and hip (P =. 021), although these associations were not significant after adjusting for multiple testing.", "output": {"entities": {"gene": [{"text": "ADIPOQ", "start": 80, "end": 86}], "disease": [{"text": "body weight", "start": 122, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Both in vivo and in vitro evidence indicates that primary hyperparathyroidism is characterized by a reduced sensitivity to extracellular calcium ([Ca2 +] o).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 147, "end": 150}], "disease": [{"text": "primary hyperparathyroidism", "start": 50, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The partially overlapping pathology of PD and Alzheimer' s disease, as well as striking structural similarities of alpha-SYN and apolipoprotein E, which is a major risk factor for late-onset Alzheimer' s disease, prompted us to investigate the influence of different alpha-SYN and apolipoprotein E alleles for developing sporadic PD.", "output": {"entities": {"gene": [{"text": "SYN", "start": 121, "end": 124}], "disease": [{"text": "sporadic", "start": 321, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "Sixty patients with reactive arthritis (ReA) and 40 with rheumatoid arthritis (RA), were typed for H LA-B27 and class II antigens DR and DQ, and studied for TAP2 gene polymorphism in comparison with 60 healthy controls.", "output": {"entities": {"gene": [{"text": "B27", "start": 104, "end": 107}], "disease": [{"text": "rheumatoid arthritis", "start": 57, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Activation of autophagy was monitored with monodansylcadaverine (MDC) staining after adenovirus PI3K (I)-RNAi-GFP and control adenovirus NC-RNAi-GFP treatment.", "output": {"entities": {"gene": [{"text": "MDC", "start": 65, "end": 68}], "disease": [{"text": "adenovirus", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the role of the cytosolic form of phosphoenolpyruvate carboxykinase (Pck1) in the development of insulin resistance.", "output": {"entities": {"gene": [{"text": "Pck1", "start": 110, "end": 114}], "disease": [{"text": "insulin resistance", "start": 138, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "To better understand the role of PD-1 in antiviral immunity we examined the expression of PD-1 on Epstein-Barr virus (EBV) epitope-specific CD8 + T cells during acute infectious mononucleosis (AIM) and convalescence.", "output": {"entities": {"gene": [{"text": "AIM", "start": 193, "end": 196}], "disease": [{"text": "infectious mononucleosis", "start": 167, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We have previously demonstrated reduced expression of GABA (B) receptor subunits 1 and 2 (GABBR1 and GABBR2) in the lateral cerebella of subjects with schizophrenia, bipolar disorder and major depressive disorder.", "output": {"entities": {"gene": [{"text": "GABBR2", "start": 101, "end": 107}], "disease": [{"text": "major depressive disorder", "start": 187, "end": 212}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABBR2", "start": 101, "end": 107}, "tail": {"text": "major depressive disorder", "start": 187, "end": 212}}]}}, "schema": []}
{"input": "Our previous studies demonstrated that HSulf-1 could inhibit angiogenesis and tumorigenesis in vivo.", "output": {"entities": {"gene": [{"text": "HSulf-1", "start": 39, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We used reverse-transcription-PCR-SSCP and direct sequencing to screen for mutations in the human beta-glucuronidase cDNA of 17 MPS VII patients with severe presentation of the disease.", "output": {"entities": {"gene": [{"text": "beta-glucuronidase", "start": 98, "end": 116}], "disease": [{"text": "MPS VII", "start": 128, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-glucuronidase", "start": 98, "end": 116}, "tail": {"text": "MPS VII", "start": 128, "end": 135}}]}}, "schema": []}
{"input": "Susceptibility to trivalent antimony as determined in vitro with intracellular amastigotes from both visceral leishmaniasis (VL) and post-kala-azar dermal leishmaniasis (PKDL) patients correlated well with the clinical response.", "output": {"entities": {"gene": [{"text": "PKDL", "start": 170, "end": 174}], "disease": [{"text": "leishmaniasis", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The mean birth weight of infants whose mothers were homozygous for COMT-L was less than that of infants whose mothers had at least one high-activity (COMT-H) allele (2. 610 versus 2. 800 g, P = 0. 07).", "output": {"entities": {"gene": [{"text": "COMT", "start": 67, "end": 71}], "disease": [{"text": "birth weight", "start": 9, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Proliferation and invasion of U87. MG and U87. MG. EGFRvIII glioma cells was assessed using the 3-(4, 5-dimethylthiazol-2-Yl)-2, 5-diphenyltetrazolium bromide (MTT) assay and Matrigel invasion assays, respectively.", "output": {"entities": {"gene": [{"text": "U87", "start": 30, "end": 33}], "disease": [{"text": "glioma", "start": 60, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Recently, a new mutation, p. G130V in the GJB2 gene has been reported as causative for Vohwinkel syndrome.", "output": {"entities": {"gene": [{"text": "GJB2", "start": 42, "end": 46}], "disease": [{"text": "Vohwinkel syndrome", "start": 87, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJB2", "start": 42, "end": 46}, "tail": {"text": "Vohwinkel syndrome", "start": 87, "end": 105}}]}}, "schema": []}
{"input": "YB-1 knockdown by siRNA upregulated 344 genes, including MDR1, thymidylate synthetase, S100 calcium binding protein and cyclin B, and downregulated 534 genes, including CXCR4, N-myc downstream regulated gene 1, E-cadherin and phospholipase C. Exogenous serum addition stimulated YB-1 translocation from the cytoplasm to the nucleus, and treatment with Akt inhibitors as well as Akt siRNA and integrin-linked kinase (ILK) siRNA specifically blocked YB-1 nuclear localization.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 211, "end": 221}], "disease": [{"text": "translocation", "start": 284, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Short allele (< 25 GT repeats) of the HMOX1 polymorphism was associated with high systolic and diastolic blood pressure, and the T allele of the NQO1 C609T polymorphism was associated with increased triglyceride levels and decreased HDL-c levels, but only in individuals with MetS.", "output": {"entities": {"gene": [{"text": "HMOX1", "start": 38, "end": 43}], "disease": [{"text": "diastolic blood pressure", "start": 95, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Type I hyperprolinemia is caused by a proline oxidase deficiency, which is encoded by the PRODH gene on chromosome 22q11.", "output": {"entities": {"gene": [{"text": "PRODH", "start": 90, "end": 95}], "disease": [{"text": "proline oxidase deficiency", "start": 38, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRODH", "start": 90, "end": 95}, "tail": {"text": "proline oxidase deficiency", "start": 38, "end": 64}}]}}, "schema": []}
{"input": "TRIP6 regulates the membrane translocation and activation of AKT and facilitates AKT-mediated recognition and phosphorylation of p27 (KIP1) specifically at T157, thereby promoting the cytosolic mislocalization of p27 (KIP1).", "output": {"entities": {"gene": [{"text": "KIP1", "start": 134, "end": 138}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Acute infectious mononucleosis (AIM) induced by Epstein-Barr virus (EBV) infection is characterized by extensive expansion of antigen-specific CD8 + T cells.", "output": {"entities": {"gene": [{"text": "AIM", "start": 32, "end": 35}], "disease": [{"text": "infectious mononucleosis", "start": 6, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Our observations support the concept of dosage effects of PAX6 mutations as well as presenting evidence for variable expressivity and gonadal mosaicism.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 58, "end": 62}], "disease": [{"text": "variable expressivity", "start": 108, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The current studies examine potential neuroprotective and immunomodulatory effects of SIRT1 overexpression in chronic EAE induced by immunization of C57BL/6 mice with myelin oligodendrocyte glycoprotein peptide 35-55.", "output": {"entities": {"gene": [{"text": "myelin oligodendrocyte glycoprotein", "start": 167, "end": 202}], "disease": [{"text": "EAE", "start": 118, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "myelin oligodendrocyte glycoprotein", "start": 167, "end": 202}, "tail": {"text": "EAE", "start": 118, "end": 121}}]}}, "schema": []}
{"input": "Multivariate analysis demonstrated that only alcohol consumption, lymph node metastasis and XIAP level were independently associated with the prognosis of advanced HNSCC patients.", "output": {"entities": {"gene": [{"text": "XIAP", "start": 92, "end": 96}], "disease": [{"text": "alcohol consumption", "start": 45, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "A 5-year-old girl with congenital central hypoventilation syndrome associated with Hirschsprung' s disease (Ondine-Hirschsprung syndrome) representing a missense mutation in exon 12 of the receptor tyrosine kinase (RET) proto-oncogene is reported.", "output": {"entities": {"gene": [{"text": "RET) proto-oncogene", "start": 215, "end": 234}], "disease": [{"text": "Ondine-Hirschsprung syndrome", "start": 108, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET) proto-oncogene", "start": 215, "end": 234}, "tail": {"text": "Ondine-Hirschsprung syndrome", "start": 108, "end": 136}}]}}, "schema": []}
{"input": "Our results show that methylation of E-cadherin occurs commonly in acute leukemia and suggests a hypothesis for E-cadherin down-regulation in leukemogenesis.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 37, "end": 47}], "disease": [{"text": "acute leukemia", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In summary, this project provides further clarity concerning the function of Malat1, specifically in breast cancer, while also indicating that the Nischarin expression context is an important factor in the determining how Malat1 activity is governed in breast cancer.", "output": {"entities": {"gene": [{"text": "Malat1", "start": 77, "end": 83}], "disease": [{"text": "breast cancer", "start": 101, "end": 114}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Malat1", "start": 77, "end": 83}, "tail": {"text": "breast cancer", "start": 101, "end": 114}}]}}, "schema": []}
{"input": "A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.", "output": {"entities": {"gene": [{"text": "HNPCC", "start": 36, "end": 41}], "disease": [{"text": "Muir-Torre syndrome", "start": 101, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HNPCC", "start": 36, "end": 41}, "tail": {"text": "Muir-Torre syndrome", "start": 101, "end": 120}}]}}, "schema": []}
{"input": "The recent discovery of new germline mutations in RET, SDHA, SDHB, SDHC, SDHD, VHL, NF1, TMEM127, MAX genes, increased the rate of genetic disease from 10% to 28% in patients with apparently sporadic tumor.", "output": {"entities": {"gene": [{"text": "MAX", "start": 98, "end": 101}], "disease": [{"text": "sporadic", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "CCN family, comprising six members (Cyr61, CTGF, Nov, WISP-1, WISP-2, WISP-3), is involved in the stimulation of cell proliferation, migration, adhesion, angiogenesis, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "WISP-1", "start": 54, "end": 60}], "disease": [{"text": "adhesion", "start": 144, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We show that KDM3A is overexpressed in Ewing Sarcoma, and that its depletion inhibits clonogenic and anchorage-independent growth in multiple patient-derived cell lines, and tumorigenesis in a xenograft model.", "output": {"entities": {"gene": [{"text": "KDM3A", "start": 13, "end": 18}], "disease": [{"text": "tumorigenesis", "start": 174, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "In contrast, no non-neoplastic UC mucosa showed HPP1 methylation.", "output": {"entities": {"gene": [{"text": "HPP1", "start": 48, "end": 52}], "disease": [{"text": "non-neoplastic", "start": 16, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "EGCG rapidly induced mitochondria-localized reactive oxygen species in human oral squamous carcinoma cells (SCC-25, SCC-9) and premalignant leukoplakia cells (MSK-Leuk1), but not in normal human gingival fibroblast cells (HGF-1).", "output": {"entities": {"gene": [{"text": "HGF", "start": 222, "end": 225}], "disease": [{"text": "leukoplakia", "start": 140, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Multivariate regression analysis was performed to assess the effects of the following variables on the presence of plaque, mean plaque thickness, and number of plaques: fibrinogen, sex, age, body mass index, mean blood pressure, glycosylated hemoglobin, LDL cholesterol, HDL cholesterol, hematocrit, and the D allele of the ACE gene.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 324, "end": 332}], "disease": [{"text": "mean blood pressure", "start": 208, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Drug-induced interstitial lung disease (ILD), particularly pulmonary fibrosis, is a serious clinical concern and myofibroblasts have been suggested to have a major role, with it recently being revealed that some of these myofibroblasts are derived from lung epithelial cells through epithelial-mesenchymal transition (EMT).", "output": {"entities": {"gene": [{"text": "EMT", "start": 318, "end": 321}], "disease": [{"text": "interstitial lung disease", "start": 13, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Finally, cold, β-agonists, or forced expression of PGC-1α are unable to cause thermogenic gene expression in the absence of IRF4.", "output": {"entities": {"gene": [{"text": "IRF4", "start": 124, "end": 128}], "disease": [{"text": "cold", "start": 9, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that ADRA2A plays an important role in depression therapy.", "output": {"entities": {"gene": [{"text": "ADRA2A", "start": 26, "end": 32}], "disease": [{"text": "depression", "start": 60, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADRA2A", "start": 26, "end": 32}, "tail": {"text": "depression", "start": 60, "end": 70}}]}}, "schema": []}
{"input": "These metaanalyses provide moderate epidemiological credibility for associations of variation in ADRB3 with overactive bladder, and variation of COL1A1 with prolapse.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 97, "end": 102}], "disease": [{"text": "prolapse", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The relationship with the TT genotype was stronger in white patients with nonatopic asthma (OR = 4. 4 [95% CI = 1. 3-14. 8]) and patients with food allergy (OR = 5. 1 [95% CI = 1. 6-16. 2]), even adjusting for sex differences (OR = 3. 9 [95% CI = 1. 1-13. 5] and OR = 4. 6 [95% CI = 1. 4-14. 8], respectively).", "output": {"entities": {"gene": [{"text": "6-16", "start": 180, "end": 184}], "disease": [{"text": "food allergy", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The rs738409 genetic variant in the patatin-like phospholipase domain-containing 3 (PNPLA3, adiponutrin) gene has been implicated as a genetic determinant of the entire spectrum of liver diseases, ranging from steatosis, chronic hepatitis, cirrhosis and ultimately to HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 268, "end": 271}], "disease": [{"text": "liver diseases", "start": 181, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Linkage disequilibrium between polymorphisms of ABCB1 and ABCC2 to predict the treatment outcome of Malaysians with complex partial seizures on treatment with carbamazepine mono-therapy at the Kuala Lumpur Hospital.", "output": {"entities": {"gene": [{"text": "ABCC2", "start": 58, "end": 63}], "disease": [{"text": "mono", "start": 173, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In vivo studies with s. c. murine DBT glioblastoma tumors treated with transglutaminase 2 inhibitors combined with the chemotherapeutic agent, N-N'-bis (2-chloroethyl)-N-nitrosourea (BCNU), decreased tumor size based on weight by 50% compared with those treated with BCNU alone.", "output": {"entities": {"gene": [{"text": "DBT", "start": 34, "end": 37}], "disease": [{"text": "weight", "start": 220, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Ten ovarian cancer cell lines were analyzed by methylation-specific PCR, and seven (GPR150, LOC222171, PRTFDC1, LOC339210, ITGA8, C9orf64 and HOXD11) of the 33 CGIs were methylated in one or more of the cell lines.", "output": {"entities": {"gene": [{"text": "PRTFDC1", "start": 103, "end": 110}], "disease": [{"text": "ovarian cancer", "start": 4, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRTFDC1", "start": 103, "end": 110}, "tail": {"text": "ovarian cancer", "start": 4, "end": 18}}]}}, "schema": []}
{"input": "RUNX1 was first identified as the gene on chromosome 21 that is rearranged by the translocation t (8; 21) (q22; q22. 12) recurrently found in the leukemic cells of patients with AML.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we show that circulating IL-1RA levels are predicted by two independent SNPs at the IL1RN and IL1F10 loci and that genetically raised IL-1RA may be protective against the development of insulin resistance.", "output": {"entities": {"gene": [{"text": "IL1RN", "start": 99, "end": 104}], "disease": [{"text": "insulin resistance", "start": 201, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "We propose that this TBK1-dependent mechanism for NF-κB signalling contributes to autophagy addiction in K-Ras driven NSCLC.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 50, "end": 55}], "disease": [{"text": "addiction", "start": 92, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, hypercholesterolemia, and hyperuricemia revealed that two polymorphisms (242C--> T in the NADH/NADPH oxidase p22 phox (p22-PHOX) gene and 2136C--> T in the thrombomodulin (THBD) gene) in men and two polymorphisms (584G--> A in the paraoxonase 1 (PON1) gene and 2445G--> A in the fatty acid-binding protein 2 (FABP2) gene) in women were significantly associated with restenosis after POBA.", "output": {"entities": {"gene": [{"text": "p22", "start": 257, "end": 260}], "disease": [{"text": "body mass index", "start": 67, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Stepwise multiple linear regression models showed a significant association of DPD expression with distant metastases (P = 0. 004) and residual tumor categories (P = 0. 03).", "output": {"entities": {"gene": [{"text": "DPD", "start": 79, "end": 82}], "disease": [{"text": "residual tumor", "start": 135, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Regulation of the human serotonin transporter. Cholera toxin-induced stimulation of serotonin uptake in human placental choriocarcinoma cells is accompanied by increased serotonin transporter mRNA levels and serotonin transporter-specific ligand binding.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 24, "end": 45}], "disease": [{"text": "placental choriocarcinoma", "start": 110, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Betel quid (BQ) chewing is an oral habit that increases the risk of oral cancer and oral submucous fibrosis (OSF), a precancerous condition showing epithelial atrophy and tissue fibrosis.", "output": {"entities": {"gene": [{"text": "OSF", "start": 109, "end": 112}], "disease": [{"text": "oral cancer", "start": 68, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The results of this study suggest that a polymorphism in the Homer1 gene, rs6871510, is a potential risk factor for the development of cocaine dependence in an African American population, whereas polymorphisms in the Homer2 gene are not.", "output": {"entities": {"gene": [{"text": "Homer1", "start": 61, "end": 67}], "disease": [{"text": "cocaine dependence", "start": 135, "end": 153}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Homer1", "start": 61, "end": 67}, "tail": {"text": "cocaine dependence", "start": 135, "end": 153}}]}}, "schema": []}
{"input": "Under similar irradiation conditions with a priming and challenging irradiation in wtp53 cells, induction of radioresistance and a depression of chromosomal aberrations were observed only in the absence of 5, 5'-(2, 5-Furanidiyl) bis-2-thiophenemethanol (RITA) or Nutlin-3 (p53-Hdm2 interaction inhibitors), aminoguanidine (an inducible nitric oxide synthase inhibitor), and c-PTIO (an NO radical scavenger).", "output": {"entities": {"gene": [{"text": "RITA", "start": 255, "end": 259}], "disease": [{"text": "chromosomal aberrations", "start": 145, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the changes in the expression levels of GDNF, ARTN, and NT-3 mRNAs might be state-dependent and associated with the pathophysiology of major depression.", "output": {"entities": {"gene": [{"text": "ARTN", "start": 71, "end": 75}], "disease": [{"text": "major depression", "start": 160, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARTN", "start": 71, "end": 75}, "tail": {"text": "major depression", "start": 160, "end": 176}}]}}, "schema": []}
{"input": "Functional assays were performed with adenovirus-mediated expression of DUSP6 in glioblastoma cultures.", "output": {"entities": {"gene": [{"text": "DUSP6", "start": 72, "end": 77}], "disease": [{"text": "glioblastoma", "start": 81, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DUSP6", "start": 72, "end": 77}, "tail": {"text": "glioblastoma", "start": 81, "end": 93}}]}}, "schema": []}
{"input": "Gadd45b is abnormally expressed in subjects with autism and psychosis, two disorders associated with cognitive deficits.", "output": {"entities": {"gene": [{"text": "Gadd45b", "start": 0, "end": 7}], "disease": [{"text": "psychosis", "start": 60, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gadd45b", "start": 0, "end": 7}, "tail": {"text": "psychosis", "start": 60, "end": 69}}]}}, "schema": []}
{"input": "The highest prevalence of severe gastric abnormalities was found in patients with both host and bacterial high-risk genotypes (cagA (+)/vacAs1 (+)/IL-1B-511T/IL-1RN * 2), with ORs of 24. 8 (95% CI, 5. 2-117. 3) for severe lymphocytic infiltration, 9. 5 (95% CI, 2. 8-32. 1) for severe granulocytic infiltration, 6. 0 (95% CI, 2. 4-15. 5) for IM, and 2. 4 (95% CI, 0. 93-6. 2) for AG.", "output": {"entities": {"gene": [{"text": "IL-1B", "start": 147, "end": 152}], "disease": [{"text": "abnormalities", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Yet, significant associations of RBP4 with atherogenic lipids were found and a focus of future studies should be the influence on atherosclerosis and related complications.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 33, "end": 37}], "disease": [{"text": "atherosclerosis", "start": 130, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, Lxn inhibited the nuclear translocation of Rps3 upon radiation, resulting in abnormal mitotic spindle formation and chromosome instability.", "output": {"entities": {"gene": [{"text": "Rps3", "start": 60, "end": 64}], "disease": [{"text": "chromosome instability", "start": 133, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rps3", "start": 60, "end": 64}, "tail": {"text": "chromosome instability", "start": 133, "end": 155}}]}}, "schema": []}
{"input": "Co-amplification of a portion of DSCR1 (Down syndrome Critical Region 1) and the reference gene, CFTR (cystic fibrosis transmembrane regulator) enabled molecular detection of trisomy 21.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 97, "end": 101}], "disease": [{"text": "trisomy 21", "start": 175, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Here, we have investigated the possible association of 9 single-nucleotide polymorphisms (SNP) in 8 different genes-FASLG, JMJDIA, LOC203413, TEX15, BRDT, OR2W3, INSR, and TAS2R38--with male infertility.", "output": {"entities": {"gene": [{"text": "FASLG", "start": 116, "end": 121}], "disease": [{"text": "male infertility", "start": 186, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Human lung adenocarcinoma CL1-5 cells were treated with GL331 and then maintained in serum-reduced, GL331-free medium for the preparation of condition mediums.", "output": {"entities": {"gene": [{"text": "CL1", "start": 26, "end": 29}], "disease": [{"text": "lung adenocarcinoma", "start": 6, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization for IGH, BCL2, BCL6, CCND1, and MYC loci showed that the only chromosomal translocation was rearranged IGH in 1 case.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 44, "end": 48}], "disease": [{"text": "chromosomal translocation", "start": 97, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The assessment in haemostasis system, fibrinogen, tissue plasminogen activator (t-PA) and its inhibitor type-1, von Willebrand factor and beta-thromboglobulin (beta-TG) levels and the changes in renin-angiotensin system (RAS), by determined angiotensin converting enzyme I (ACE) activity, in patients with essential hypertension (in relation to left ventricular hypertrophy) in comparison with normotension subjects.", "output": {"entities": {"gene": [{"text": "beta-TG", "start": 160, "end": 167}], "disease": [{"text": "fibrinogen", "start": 38, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.", "output": {"entities": {"gene": [{"text": "CASR", "start": 58, "end": 62}], "disease": [{"text": "Familial hypocalciuric hypercalcemia", "start": 0, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CASR", "start": 58, "end": 62}, "tail": {"text": "Familial hypocalciuric hypercalcemia", "start": 0, "end": 36}}]}}, "schema": []}
{"input": "In comparison to the control, the aspirin-sensitive rhinitis group had a significant increase of VIP-like immunoreactivity in mucosal nerve fibres.", "output": {"entities": {"gene": [{"text": "VIP", "start": 97, "end": 100}], "disease": [{"text": "rhinitis", "start": 52, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VIP", "start": 97, "end": 100}, "tail": {"text": "rhinitis", "start": 52, "end": 60}}]}}, "schema": []}
{"input": "ACA11 suppressed oxidative stress, afforded resistance to chemotherapy, and increased the proliferation of MM cells, demonstrating that ACA11 is a critical target of the t (4; 14) translocation in MM and suggesting an oncogenic role in other cancers as well.", "output": {"entities": {"gene": [{"text": "ACA11", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 180, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "BMPR2 potentially signals through multiple immediate downstream pathways, including Smad, MAPK, LIM domain kinase 1 (LIMK) and dynein, light chain, Tctex-type 1 (TCTEX), v-src sarcoma viral oncogene homolog (SRC), and nuclear factor kappa-B (NFkB).", "output": {"entities": {"gene": [{"text": "LIMK", "start": 117, "end": 121}], "disease": [{"text": "sarcoma", "start": 176, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "When age, disease duration, and MMSE scores were controlled in a logistical regression model, FAD patients were more likely to have significant headaches, myoclonus, gait abnormality, and pseudobulbar affect than those with NF-EAD.", "output": {"entities": {"gene": [{"text": "EAD", "start": 227, "end": 230}], "disease": [{"text": "gait abnormality", "start": 166, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "LC-and HC-MBL had similar somatic hypermutation status, yet different IGHV gene repertoires and frequencies of B-cell receptor (BcR) stereotypy.", "output": {"entities": {"gene": [{"text": "MBL", "start": 10, "end": 13}], "disease": [{"text": "stereotypy", "start": 133, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "They also revealed that the variation of the NKX2. 5 gene may not be a risk factor for sporadic patients with congenital heart disease in this population.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 45, "end": 52}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "He had neither ataxia nor telangiectasia, and his immunological status and serum alpha feto protein (AFP) level were normal.", "output": {"entities": {"gene": [{"text": "AFP", "start": 101, "end": 104}], "disease": [{"text": "telangiectasia", "start": 26, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.", "output": {"entities": {"gene": [{"text": "PIGV", "start": 15, "end": 19}], "disease": [{"text": "hyperphosphatasia with mental retardation", "start": 67, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIGV", "start": 15, "end": 19}, "tail": {"text": "hyperphosphatasia with mental retardation", "start": 67, "end": 108}}]}}, "schema": []}
{"input": "We conclude that IL-4-589 * T, but not TNF-alpha-308 * 2 or Fcalpha RIbeta * G, is a risk factor for the development of atopy, asthma, and rhinitis by 12 mo of age.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 39, "end": 48}], "disease": [{"text": "atopy", "start": 120, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Failures in the mitotic checkpoint induced by changes in expression levels of the spindle assembly checkpoint (SAC) proteins cause the missegregation of chromosomes in mitosis as well as aneuploidy.", "output": {"entities": {"gene": [{"text": "SAC", "start": 111, "end": 114}], "disease": [{"text": "aneuploidy", "start": 187, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "In the current case-control study, the authors investigated the association between MBD2 expression and bladder carcinoma risk.", "output": {"entities": {"gene": [{"text": "MBD2", "start": 84, "end": 88}], "disease": [{"text": "bladder carcinoma", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We observed selective up-regulation of miRNA-221 and down-regulation of a miRNA-221 messenger RNA target encoding the survivin-1 homolog BIRC1, a neuronal inhibitor of apoptosis protein (NIAP) and marker for neurodegeneration.", "output": {"entities": {"gene": [{"text": "BIRC1", "start": 137, "end": 142}], "disease": [{"text": "neurodegeneration", "start": 208, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We show that Zyxin is required for TGF-β and hypoxia-induced Lats2 downregulation and deactivation of Hippo signalling in MDA-MB-231 cells.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 35, "end": 40}], "disease": [{"text": "hypoxia", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Using sera from a long-term surviving metastatic melanoma patient vaccinated with irradiated, autologous tumor cells engineered to secrete granulocyte-macrophage colony stimulating factor (GM-CSF), we identified an antigen reported to be a putative opioid growth factor receptor (OGFr).", "output": {"entities": {"gene": [{"text": "OGFr", "start": 280, "end": 284}], "disease": [{"text": "metastatic melanoma", "start": 38, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "They include decreased cytochrome b5 and transgelin, and more abundant CRABP-II, cyclophilin A, Neudesin, and hemoglobin in ER +/PR + tumors versus ER +/PR-providing a possible explanation for differential susceptibility against tamoxifen as a result of deregulated cytochrome b5-dependent metabolism.", "output": {"entities": {"gene": [{"text": "CRABP-II", "start": 71, "end": 79}], "disease": [{"text": "hemoglobin", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The number of circulating erythrocytes and neutrophils was significantly increased in animals with HOAc-induced colitis and treated with IL-1ra, suggesting that IL-1ra under these experimental conditions inhibited the migration of neutrophils to the injured colon and also the overall intestinal necrosis in the colon as assessed by gross pathology.", "output": {"entities": {"gene": [{"text": "IL-1ra", "start": 137, "end": 143}], "disease": [{"text": "necrosis", "start": 296, "end": 304}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-1ra", "start": 137, "end": 143}, "tail": {"text": "necrosis", "start": 296, "end": 304}}]}}, "schema": []}
{"input": "Similar patterns of coding microsatellite instability in MMR-DCF and MMR-deficient cancers suggest that certain combinations of coding microsatellite mutations, including mutations of the HT001, AIM2 and BAX gene, may contribute to the progression of MMR-deficient lesions into MMR-deficient cancers.", "output": {"entities": {"gene": [{"text": "MMR", "start": 57, "end": 60}], "disease": [{"text": "microsatellite instability", "start": 27, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The HFD caused increased adiposity and reduced insulin sensitivity only in the LCR and not the HCR strain.", "output": {"entities": {"gene": [{"text": "HCR", "start": 95, "end": 98}], "disease": [{"text": "insulin sensitivity", "start": 47, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Embryonic signaling pathways, in particular those mediated by Wnt and TGF-β, are known to play key roles in tumor progression through the induction of epithelial-mesenchymal transition (EMT).", "output": {"entities": {"gene": [{"text": "EMT", "start": 186, "end": 189}], "disease": [{"text": "tumor progression", "start": 108, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Thanatophoric dysplasia type I (TDI) is a neonatal lethal skeletal dysplasia caused by several mutations in the extracellular domain of fibroblast growth factor receptor 3.", "output": {"entities": {"gene": [{"text": "TDI", "start": 32, "end": 35}], "disease": [{"text": "lethal skeletal dysplasia", "start": 51, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In addition, multiple regression analysis with a forward elimination procedure showed that only the ACE genotype was associated with RI of arcuate arteries (R2 = 0. 24, p < 0. 01) among the parameters of sex, age, IDDM duration, body mass index, HbA1c, plasma glucose levels, serum levels of total cholesterol and creatinine, urinary albumin excretion index, mean blood pressure and ACE genotype.", "output": {"entities": {"gene": [{"text": "ACE", "start": 100, "end": 103}], "disease": [{"text": "mean blood pressure", "start": 359, "end": 378}]}, "relations": {}}, "schema": []}
{"input": "Investigation of the candidate genes ACTHR and golf for bipolar illness by the transmission/disequilibrium test.", "output": {"entities": {"gene": [{"text": "ACTHR", "start": 37, "end": 42}], "disease": [{"text": "bipolar illness", "start": 56, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTHR", "start": 37, "end": 42}, "tail": {"text": "bipolar illness", "start": 56, "end": 71}}]}}, "schema": []}
{"input": "Expression of p27 (KIP1) and C-MYC was determined by immunohistochemistry in 84 gastric adenocarcinoma samples and H. pylori infection and genotype were determined by polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "p27", "start": 14, "end": 17}], "disease": [{"text": "gastric adenocarcinoma", "start": 80, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The changes in expression and distribution of VEGF, AQP1 and AQP4 during encephaledema caused by hypoxic exposure may induce blood-brain barrier injury, and may be one of the pathogenesis of hypoxic encephaledema.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 46, "end": 50}], "disease": [{"text": "hypoxic", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The A387P substitution is a \" gain-of-function \" mutation, favoring a form of TSP-4 that interferes with EC adhesion and proliferation and may thereby be proatherogenic.", "output": {"entities": {"gene": [{"text": "TSP", "start": 78, "end": 81}], "disease": [{"text": "adhesion", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Ipsilateral SFL duration during inflammation was positively correlated with ipsilateral TASK1 and TASK3 mRNAs, and contralateral TASK1, TRESK and TASK2 mRNAs.", "output": {"entities": {"gene": [{"text": "SFL", "start": 12, "end": 15}], "disease": [{"text": "inflammation", "start": 32, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that RGS1 controls the chemotactic migration of RPMI 8226 human plasmacytoma cells and human plasmablasts.", "output": {"entities": {"gene": [{"text": "RGS1", "start": 19, "end": 23}], "disease": [{"text": "plasmacytoma", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Moreover, hypoxia increased the expression of VEGF via up-regulation of HIF-1 alpha irrespective of p53 gene status.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 46, "end": 50}], "disease": [{"text": "hypoxia", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Dysmorphic features, moderate mental impairment and minor brain malformations could result from the 21q monosomy and particularly the partial deletion of the APP-SOD1 region.", "output": {"entities": {"gene": [{"text": "APP", "start": 158, "end": 161}], "disease": [{"text": "brain malformations", "start": 58, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "A transcription factor, TFAP2B, has been shown to participate in the regulation of adipocyte metabolism, by facilitating glucose uptake and lipid accumulation, while simultaneously reducing insulin sensitivity, and recently a direct function for TFAP2B as an inhibitor of adiponectin expression was observed.", "output": {"entities": {"gene": [{"text": "TFAP2B", "start": 24, "end": 30}], "disease": [{"text": "insulin sensitivity", "start": 190, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Here, we assess the impact of germline heterozygosity of a novel, oxygen-independent ubiquitin ligase for HIF-1α: hypoxia-associated factor (HAF; encoded by SART1).", "output": {"entities": {"gene": [{"text": "SART1", "start": 157, "end": 162}], "disease": [{"text": "hypoxia", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Unusually, the BCL6 gene locus is also actively targeted by the somatic mutation (SM) mechanism, at a rate indicative of specific, regulated events in both normal and malignant B-cells.", "output": {"entities": {"gene": [{"text": "BCL6 gene", "start": 15, "end": 24}], "disease": [{"text": "somatic mutation", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, in the SG, the number of circulating Lin (-)/CD45 (-)/CD34 (+) VSELs and the S1P plasma level are the best predictors of risk and are proposed as novel markers for the first \" schizophrenic \" episode of psychosis.", "output": {"entities": {"gene": [{"text": "CD34", "start": 67, "end": 71}], "disease": [{"text": "psychosis", "start": 216, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD34", "start": 67, "end": 71}, "tail": {"text": "psychosis", "start": 216, "end": 225}}]}}, "schema": []}
{"input": "We constructed a dual-regulated oncolytic adenovirus expressing interleukin 24 (IL-24) gene (Ki67-ZD55-IL-24) by utilizing the Ki67 promoter to replace the native viral promoter of E1A gene.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 93, "end": 97}], "disease": [{"text": "adenovirus", "start": 42, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "High expression of TRF2, SOX10, and CD10 in circulating tumor microemboli detected in metastatic melanoma patients. A potential impact for the assessment of disease aggressiveness.", "output": {"entities": {"gene": [{"text": "CD10", "start": 36, "end": 40}], "disease": [{"text": "aggressiveness", "start": 165, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "DNA glycosylase encoded by MUTYH functions as a molecular switch for programmed cell death under oxidative stress to suppress tumorigenesis.", "output": {"entities": {"gene": [{"text": "MUTYH", "start": 27, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking ERK1 exhibited enhanced fear extinction and reduced depression caused by overactivation of ERK2.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 13, "end": 17}], "disease": [{"text": "depression", "start": 65, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK1", "start": 13, "end": 17}, "tail": {"text": "depression", "start": 65, "end": 75}}]}}, "schema": []}
{"input": "They showed mild hypocalcemia (1. 68-1. 98 mmol/liter) with normal urinary calcium excretion and low normal serum PTH levels.", "output": {"entities": {"gene": [{"text": "PTH", "start": 114, "end": 117}], "disease": [{"text": "mild", "start": 12, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Human polynucleotide phosphorylase (hPNPase (old-35)), a RNA degradation enzyme shown to be upregulated during differentiation and cellular senescence, may represent a molecular link between aging and its associated inflammation.", "output": {"entities": {"gene": [{"text": "old-35", "start": 45, "end": 51}], "disease": [{"text": "inflammation", "start": 216, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS).", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 10, "end": 18}], "disease": [{"text": "TTP", "start": 100, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS13", "start": 10, "end": 18}, "tail": {"text": "TTP", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "Recent studies showed that nutrient and oxygen starvation during tissue ischemia induce certain ER stress response genes, including GRP78; however, the role of ATF6 in mediating this induction has not been examined.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 132, "end": 137}], "disease": [{"text": "starvation", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.", "output": {"entities": {"gene": [{"text": "RNF113A", "start": 76, "end": 83}], "disease": [{"text": "trichothiodystrophy", "start": 17, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RNF113A", "start": 76, "end": 83}, "tail": {"text": "trichothiodystrophy", "start": 17, "end": 36}}]}}, "schema": []}
{"input": "DNA was extracted from blood samples of 50 healthy subjects, 50 patients with OSF and 60 patients with oral cancer.", "output": {"entities": {"gene": [{"text": "OSF", "start": 78, "end": 81}], "disease": [{"text": "oral cancer", "start": 103, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Conversely, antagonism of miR-34a in diet-induced obese mice restored NAMPT/NAD (+) levels and alleviated steatosis, inflammation, and glucose intolerance.", "output": {"entities": {"gene": [{"text": "miR-34a", "start": 26, "end": 33}], "disease": [{"text": "glucose intolerance", "start": 135, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-34a", "start": 26, "end": 33}, "tail": {"text": "glucose intolerance", "start": 135, "end": 154}}]}}, "schema": []}
{"input": "Immunohistochemistry and Western blot demonstrated that Eag1 and VDR abundance was higher in invasive-ductal carcinoma than in fibroadenoma, and immunoreactivity of both proteins was located in ductal epithelial cells.", "output": {"entities": {"gene": [{"text": "Eag1", "start": 56, "end": 60}], "disease": [{"text": "fibroadenoma", "start": 127, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The role of ID1, ID2 and ID3 are expected to be oncogenic due to their overexpression in pancreatic cancer and colorectal adenocarcinomas, respectively.", "output": {"entities": {"gene": [{"text": "ID3", "start": 25, "end": 28}], "disease": [{"text": "pancreatic cancer", "start": 89, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Beta-catenin nuclear expression was seen in 75% cases of gallbladder cancer and in no case of chronic cholecystitis and control gallbladder.", "output": {"entities": {"gene": [{"text": "Beta-catenin", "start": 0, "end": 12}], "disease": [{"text": "chronic cholecystitis", "start": 94, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Linkage of bipolar disorder and recurrent depression to DRD1 and DRD2 was tested using a series of genetic models with varying penetrance levels.", "output": {"entities": {"gene": [{"text": "DRD1", "start": 56, "end": 60}], "disease": [{"text": "recurrent depression", "start": 32, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DRD1", "start": 56, "end": 60}, "tail": {"text": "recurrent depression", "start": 32, "end": 52}}]}}, "schema": []}
{"input": "In addition, a significant interaction between the IL-17F 7488 polymorphism and H. pylori infection was shown to increase the activity and inflammation scores (p = 0. 043 and 0. 042, respectively).", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 51, "end": 57}], "disease": [{"text": "inflammation", "start": 139, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Thus, stimulation of serotonin transporter activity in the placental choriocarcinoma cells following cholera toxin treatment is likely a result of an increase in cell surface density of the serotonin transporter protein as a consequence of increased steady state serotonin transporter mRNA levels.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 21, "end": 42}], "disease": [{"text": "placental choriocarcinoma", "start": 59, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "To assess the utility of fluorescence in situ hybridization (FISH) for analysis of MYCN gene amplification in neuroblastoma, we compared this assay with Southern blot analysis using tumor specimens collected from 232 patients with presenting characteristics typical of this disease.", "output": {"entities": {"gene": [{"text": "FISH", "start": 61, "end": 65}], "disease": [{"text": "neuroblastoma", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, RIZ1 overexpression in malignant meningioma cells was associated with the downregulation of c-myc expression.", "output": {"entities": {"gene": [{"text": "c-myc", "start": 105, "end": 110}], "disease": [{"text": "malignant meningioma", "start": 36, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "This increase was accompanied by the activation of caspases, cytochrome c release, Bcl2-associated X protein (Bax) translocation, myeloid cell leukemia-1 (Mcl-1) downregulation, Bcl-2-associated death promoter (Bad) dephosphorylation, Akt inactivation, and RhoA/Rho-associated coiled-coil containing protein kinase 1/phosphatase and tensin homolog (RhoA/ROCK1/PTEN) activation.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 178, "end": 183}], "disease": [{"text": "translocation", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We found that ligand-activated FXR was able to alleviate H₂O₂or tetradecanoylphorbol acetate-induced JNK phosphorylation in human hepatoblastoma (HepG2) cells or mouse primary hepatocytes.", "output": {"entities": {"gene": [{"text": "JNK", "start": 101, "end": 104}], "disease": [{"text": "hepatoblastoma", "start": 130, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "When we compared these cases with cases of mycosis fungoides unassociated with HIV infection, we found less concordance among dermatopathologists in making a histopathological diagnosis, a greater proportion of CD8 than CD4 T cells in the cutaneous infiltrates, and no instances of demonstrated clonality of the cutaneous T-cell infiltrates in the HIV + group.", "output": {"entities": {"gene": [{"text": "CD8", "start": 211, "end": 214}], "disease": [{"text": "mycosis fungoides", "start": 43, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Our data support that the NOS3 T-786C SNP is associated with preeclampsia and the severity of its complications.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 26, "end": 30}], "disease": [{"text": "preeclampsia", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "These data clearly support a major role for the ubiquitin-proteasome dependent proteolytic process during sepsis but also suggest that the activation of lysosomal and Ca2 +-dependent proteolysis may be important in the chronic phase.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 167, "end": 170}], "disease": [{"text": "sepsis", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The VEGF siRNA with atelocollagen dramatically suppressed tumor angiogenesis and tumor growth in a PC-3 s. c. xenograft model.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 99, "end": 103}], "disease": [{"text": "tumor angiogenesis", "start": 58, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "By using interphase fluorescent in situ hybridization methodology, we analyzed PLCB1 gene, which codifies for the PI-PLC & #946; 1 enzyme, in paraffin embedded samples of orbito-frontal cortex of 15 patients affected with major depression and in 15 normal controls.", "output": {"entities": {"gene": [{"text": "PLCB1", "start": 79, "end": 84}], "disease": [{"text": "major depression", "start": 222, "end": 238}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLCB1", "start": 79, "end": 84}, "tail": {"text": "major depression", "start": 222, "end": 238}}]}}, "schema": []}
{"input": "Our findings suggested that the ACE I/D polymorphism might be associated with the NS personality trait in females, but not males.", "output": {"entities": {"gene": [{"text": "ACE", "start": 32, "end": 35}], "disease": [{"text": "personality trait", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The low beta-glucuronidase activity in another mild MPS VII patient was due to reduced biosynthesis of stable mRNA from one allele, and a W446X mutation on the second.", "output": {"entities": {"gene": [{"text": "beta-glucuronidase", "start": 8, "end": 26}], "disease": [{"text": "MPS VII", "start": 52, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-glucuronidase", "start": 8, "end": 26}, "tail": {"text": "MPS VII", "start": 52, "end": 59}}]}}, "schema": []}
{"input": "Notably, the expression of malate dehydrogenase 1 was downregulated while the annexin A5 was overexpressed in an age-dependent manner, indicating that these proteins may be involved in the WD process.", "output": {"entities": {"gene": [{"text": "annexin A5", "start": 78, "end": 88}], "disease": [{"text": "WD", "start": 189, "end": 191}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "annexin A5", "start": 78, "end": 88}, "tail": {"text": "WD", "start": 189, "end": 191}}]}}, "schema": []}
{"input": "In contrast, inhibition of Drp1 hyperactivation by Drp1 siRNA reduced necrotic cell death in cell cultures exposed to oxidative stress.", "output": {"entities": {"gene": [{"text": "Drp1", "start": 27, "end": 31}], "disease": [{"text": "necrotic cell death", "start": 70, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Expression of HGAL in primary cutaneous large B-cell lymphomas: evidence for germinal center derivation of primary cutaneous follicular lymphoma.", "output": {"entities": {"gene": [{"text": "HGAL", "start": 14, "end": 18}], "disease": [{"text": "cutaneous follicular lymphoma", "start": 115, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Instead, a second progesterone dose delays the fall of p21 and enhances the rise of p27 (Kip1), thereby intensifying the progesterone resistance in an autoinhibitory loop.", "output": {"entities": {"gene": [{"text": "Kip1", "start": 89, "end": 93}], "disease": [{"text": "fall", "start": 47, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Despite the upregulation of the SDF1α/CXCR4 axis upon the induction of hypoxia after antiangiogenic therapy, CXCR4 inhibition by AMD-NPs in combination with either conventional sorafenib treatment or VEGF siRNA prevents the infiltration of tumor-associated macrophages.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 200, "end": 204}], "disease": [{"text": "hypoxia", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "VEGF promoter deletion studies identified a novel promoter region between-418 and-223 bp that was responsive to hypoxia in a PI3K/Rho/ROCK-dependent manner.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Increased HIF-1 in REDD1 (-/-) cells induces a shift to glycolytic metabolism and provides a growth advantage under hypoxic conditions, and HIF-1 knockdown abrogates this advantage and suppresses tumorigenesis.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 10, "end": 15}], "disease": [{"text": "tumorigenesis", "start": 196, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Only SOD2 was found upregulated in placental villous (fetal side) tissue of GDM women.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 5, "end": 9}], "disease": [{"text": "GDM", "start": 76, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD2", "start": 5, "end": 9}, "tail": {"text": "GDM", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "These include the TRP vanilloid subtypes 1 (TRPV1), 2, 3, and 4, the cold and menthol receptor TRPM8, and TRPA1.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 44, "end": 49}], "disease": [{"text": "cold", "start": 69, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Painless control tissue was taken at autopsy from patients without back pain/spinal pathology or spinal levels with negative discograms resected for deformity. Quantitative real time polymerase chain reaction (qRT-PCR) was performed to evaluate RANTES, IL-1β, IL-6, and IL-8 expression in painful and control discs.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 245, "end": 251}], "disease": [{"text": "deformity", "start": 149, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Determination of number of triple CGG repeats on both alleles of FMR1 gene and of FSH and anti-Müllerian hormone (AMH) levels as a reflection of ovarian reserve.", "output": {"entities": {"gene": [{"text": "AMH", "start": 114, "end": 117}], "disease": [{"text": "ovarian reserve", "start": 145, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Hypomorphic mutations in the gene encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme, ALPL in human or Akp2 in mice, cause hypophosphatasia (HPP), an inherited metabolic bone disease also characterized by spontaneous seizures.", "output": {"entities": {"gene": [{"text": "TNAP", "start": 88, "end": 92}], "disease": [{"text": "seizures", "start": 233, "end": 241}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TNAP", "start": 88, "end": 92}, "tail": {"text": "seizures", "start": 233, "end": 241}}]}}, "schema": []}
{"input": "We have investigated the diagnostic value of fluorescence in situ hybridisation (FISH) to detect t (11; 14) and trisomy 12 in 53 cases with a B cell leukaemia difficult to classify on clinical and laboratory grounds.", "output": {"entities": {"gene": [{"text": "FISH", "start": 81, "end": 85}], "disease": [{"text": "leukaemia", "start": 149, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical and genetic analysis revealed p53 overexpression in the tumor giant cells and loss of heterozygosity of p53 gene only in the recurrent tumor; thus, a diagnosis of secondary malignant giant-cell tumor was finally made.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 124, "end": 132}], "disease": [{"text": "giant", "start": 82, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Small molecular nucleotides targeting VASN are promising biological therapies to HCC.", "output": {"entities": {"gene": [{"text": "VASN", "start": 38, "end": 42}], "disease": [{"text": "HCC", "start": 81, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VASN", "start": 38, "end": 42}, "tail": {"text": "HCC", "start": 81, "end": 84}}]}}, "schema": []}
{"input": "The Plasmodium berghei mouse model for experimental cerebral malaria (ECM) reproduces several disease symptoms seen in human CM, and two different phenotypes, a susceptible (FVB/NJ) and a resistant mouse strain (DBA/2J), were examined.", "output": {"entities": {"gene": [{"text": "ECM", "start": 70, "end": 73}], "disease": [{"text": "cerebral malaria", "start": 52, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Genetic analysis of the GFAP gene is recommended for all patients with late-onset progressive ataxia and suspected of having adult-onset Alexander disease on the basis of MRI findings.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 24, "end": 28}], "disease": [{"text": "Alexander disease", "start": 137, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 24, "end": 28}, "tail": {"text": "Alexander disease", "start": 137, "end": 154}}]}}, "schema": []}
{"input": "Our data further suggest that the age of onset of DSMA1 is variable, and we discuss the effect of residual IGHMBP2 protein levels on the clinical course and the severity of the disease.", "output": {"entities": {"gene": [{"text": "IGHMBP2", "start": 107, "end": 114}], "disease": [{"text": "DSMA1", "start": 50, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IGHMBP2", "start": 107, "end": 114}, "tail": {"text": "DSMA1", "start": 50, "end": 55}}]}}, "schema": []}
{"input": "Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.", "output": {"entities": {"gene": [{"text": "CAST", "start": 30, "end": 34}], "disease": [{"text": "cheilitis", "start": 94, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Malarial pigment haemozoin, IFN-gamma, TNF-alpha, IL-1beta and LPS do not stimulate expression of inducible nitric oxide synthase and production of nitric oxide in immuno-purified human monocytes.", "output": {"entities": {"gene": [{"text": "IFN", "start": 28, "end": 31}], "disease": [{"text": "pigment", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Mapatumumab, an antibody targeting TRAIL-R1, in combination with paclitaxel and carboplatin in patients with advanced solid malignancies: results of a phase I and pharmacokinetic study.", "output": {"entities": {"gene": [{"text": "TRAIL-R1", "start": 35, "end": 43}], "disease": [{"text": "malignancies", "start": 124, "end": 136}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRAIL-R1", "start": 35, "end": 43}, "tail": {"text": "malignancies", "start": 124, "end": 136}}]}}, "schema": []}
{"input": "LECT2-knockout (KO) mice and NOD/SCID/IL2rgnull (NSG) mice were respectively used to investigate the effects of LECT2 on the tumorigenicity and metastasis of murine (Lewis lung carcinoma, LLC) and human (HCC827) lung cancer cells.", "output": {"entities": {"gene": [{"text": "LECT2", "start": 0, "end": 5}], "disease": [{"text": "metastasis", "start": 144, "end": 154}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "LECT2", "start": 0, "end": 5}, "tail": {"text": "metastasis", "start": 144, "end": 154}}]}}, "schema": []}
{"input": "Association of single-nucleotide polymorphisms from HSD17B6 in subjects with PCOS with key phenotypes of PCOS: androgen status, insulin resistance, and body mass index.", "output": {"entities": {"gene": [{"text": "HSD17B6", "start": 52, "end": 59}], "disease": [{"text": "insulin resistance", "start": 128, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Identification of JAK2 as a mediator of FIP1L1-PDGFRA-induced eosinophil growth and function in CEL.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 47, "end": 53}], "disease": [{"text": "CEL", "start": 96, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDGFRA", "start": 47, "end": 53}, "tail": {"text": "CEL", "start": 96, "end": 99}}]}}, "schema": []}
{"input": "In this study, we examined the expression of adiponectin receptors (AdipoR1 and AdipoR2) and assessed the function of adiponectin in gastric cancer.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 80, "end": 87}], "disease": [{"text": "gastric cancer", "start": 133, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We aimed to elucidate the mechanism by which a missense mutation in the tyrosine kinase domain of FGFR2, described in the sporadic case of LADD syndrome, leads to reduced tyrosine kinase activity.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 98, "end": 103}], "disease": [{"text": "LADD syndrome", "start": 139, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 98, "end": 103}, "tail": {"text": "LADD syndrome", "start": 139, "end": 152}}]}}, "schema": []}
{"input": "Associations of hereditary abnormalities of the factor VIII complex and hereditary platelet disorders have previously been reported in 12 families.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 48, "end": 59}], "disease": [{"text": "platelet disorders", "start": 83, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Deguelin inhibits epithelial-to-mesenchymal transition and metastasis of human non-small cell lung cancer cells by regulating NIMA-related kinase 2.", "output": {"entities": {"gene": [{"text": "NIMA-related kinase 2", "start": 126, "end": 147}], "disease": [{"text": "non-small cell lung cancer", "start": 79, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NIMA-related kinase 2", "start": 126, "end": 147}, "tail": {"text": "non-small cell lung cancer", "start": 79, "end": 105}}]}}, "schema": []}
{"input": "Our results suggest a possible association between the PNPLA3 148M allele and insulin resistance as well as baseline viral load in HCV genotype 2, but not in genotype 3.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 55, "end": 61}], "disease": [{"text": "insulin resistance", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Epistatic effects of ACE I/D and AGT gene variants on left ventricular mass in hypertensive patients: the HyperGEN study.", "output": {"entities": {"gene": [{"text": "ACE", "start": 21, "end": 24}], "disease": [{"text": "left ventricular mass", "start": 54, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "PCR and direct sequencing of the ADAR1 gene were performed to identify and confirm the mutations in the eight families and the sporadic patient.", "output": {"entities": {"gene": [{"text": "ADAR1", "start": 33, "end": 38}], "disease": [{"text": "sporadic", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Cross-sectional studies disclosed a marked increase of miR-140-5p, miR-142-3p, and miR-222 and decreased miR-423-5p, miR-125b, miR-192, miR-195, miR-130b, miR-532-5p, and miR-126 in T2D patients.", "output": {"entities": {"gene": [{"text": "miR-192", "start": 127, "end": 134}], "disease": [{"text": "T2D", "start": 182, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-192", "start": 127, "end": 134}, "tail": {"text": "T2D", "start": 182, "end": 185}}]}}, "schema": []}
{"input": "The pathogenesis of AIMBAD appears to be heterogeneous, as recent reports have demonstrated GIP-mediated hypercortisolism and familial AIMBAD.", "output": {"entities": {"gene": [{"text": "GIP", "start": 92, "end": 95}], "disease": [{"text": "hypercortisolism", "start": 105, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Disruption of both FANCC and Ku70 suppresses sensitivity to cross-linking agents, diminishes chromosome breaks, and reverses defective homologous recombination.", "output": {"entities": {"gene": [{"text": "FANCC", "start": 19, "end": 24}], "disease": [{"text": "chromosome breaks", "start": 93, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The mRNA gene expression of LUM is correlated with the LF stage (r (2) = 0. 45, P = 0. 009), and the mRNA level of ITLN1 is correlated with the ankle-brachial index (r (2) = 0. 42, P = 0. 008).", "output": {"entities": {"gene": [{"text": "LUM", "start": 28, "end": 31}], "disease": [{"text": "ankle-brachial index", "start": 144, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "siRNA depletion of BRCA1, but not BRCA2, causes increased genome instability in Fanconi anemia cells.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 19, "end": 24}], "disease": [{"text": "genome instability", "start": 58, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Our study provides miRNomes of human liver and HCC and contributes to better understanding of the important deregulated miRNAs in HCC and liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 47, "end": 50}], "disease": [{"text": "liver diseases", "start": 138, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVE: Small GTPase Ras-related protein 1 (Rap1b) controls several basic cellular phenomena, and its deletion in mice leads to several cardiovascular defects, including impaired adhesion of blood cells and defective angiogenesis.", "output": {"entities": {"gene": [{"text": "Rap1b", "start": 47, "end": 52}], "disease": [{"text": "adhesion", "start": 182, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "This study investigated the effect of surgically induced ischaemia in a xenograft model of a colorectal cancer on the expression of a range of prognostic, predictive, and hypoxic markers, with a particular emphasis on thymidylate synthase.", "output": {"entities": {"gene": [{"text": "thymidylate synthase", "start": 218, "end": 238}], "disease": [{"text": "ischaemia", "start": 57, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that PPase is involved in gastric tumor progression and that PPase may be a useful marker for poor prognosis of human gastric cancers.", "output": {"entities": {"gene": [{"text": "PPase", "start": 27, "end": 32}], "disease": [{"text": "gastric tumor", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder that is characterized by branchial cysts or fistulae, external ear malformations and/or preauricular pits, hearing loss and renal anomalies.", "output": {"entities": {"gene": [{"text": "BOR", "start": 20, "end": 23}], "disease": [{"text": "branchial cysts", "start": 93, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We evaluated immunohistochemically the expression of two hypoxia-associated proteins, carbonic anhydrase IX (CAIX) and hypoxia-induced factor 1α (HIF1α), and ki-67, intercellular matrix adhesion molecule E-cadherin and the stroma remodelling marker tenascin C in a series of 100 sporadic MTCs and corresponding lymph node metastases, if present.", "output": {"entities": {"gene": [{"text": "tenascin C", "start": 249, "end": 259}], "disease": [{"text": "hypoxia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Brd4-depleted mice display reversible epidermal hyperplasia, alopecia, and decreased cellular diversity and stem cell depletion in the small intestine.", "output": {"entities": {"gene": [{"text": "Brd4", "start": 0, "end": 4}], "disease": [{"text": "hyperplasia", "start": 48, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Brd4", "start": 0, "end": 4}, "tail": {"text": "hyperplasia", "start": 48, "end": 59}}]}}, "schema": []}
{"input": "Filamin A mutations have been reported in families and sporadic patients.", "output": {"entities": {"gene": [{"text": "Filamin A", "start": 0, "end": 9}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Most CD8 + cells in skin lesions of CD3 + CD4 + mycosis fungoides are CD3 + T cells that lack CD11b, CD16, CD56, CD57, and human Hanukah factor mRNA.", "output": {"entities": {"gene": [{"text": "CD8", "start": 5, "end": 8}], "disease": [{"text": "mycosis fungoides", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In breast cancer ERalpha plays a central role, where estrogen-regulated gene expression leads to tumor initiation, growth and survival.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 53, "end": 76}], "disease": [{"text": "breast cancer", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "A similar co-upregulation of GLUT and VEGF was seen in hypoxic tumors of both lines.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 38, "end": 42}], "disease": [{"text": "hypoxic", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "OPA1 gene mutations are causative in Chinese autosomal-dominant optic atrophy and sporadic optic atrophy.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 0, "end": 4}], "disease": [{"text": "autosomal-dominant optic atrophy", "start": 45, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 0, "end": 4}, "tail": {"text": "autosomal-dominant optic atrophy", "start": 45, "end": 77}}]}}, "schema": []}
{"input": "Four IFN-treated patients presented clinical thyroid disorders, including autoimmune hypothyroidism (n = 2), transient thyrotoxicosis (n = 1) and subacute thyroiditis (n = 1).", "output": {"entities": {"gene": [{"text": "IFN", "start": 5, "end": 8}], "disease": [{"text": "thyrotoxicosis", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, TTV DNA is detected frequently in bile from patients with obstructive jaundice, suggesting a fecal-oral route of infection and high prevalence of asymptomatic TTV carriers.", "output": {"entities": {"gene": [{"text": "TTV", "start": 15, "end": 18}], "disease": [{"text": "asymptomatic", "start": 161, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that lipocalin 2 has at least two functions related to tumorigenesis, one involving apoptosis induction of normal hematopoietic cells and the other being tissue invasion by leukemia cells.", "output": {"entities": {"gene": [{"text": "lipocalin 2", "start": 32, "end": 43}], "disease": [{"text": "tumorigenesis", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The DOR-1 cell line exhibits distinct immuno-cytochemical features and carries the t (9; 17) (p23; p13) translocation suggesting involvement of stromal-like cell lineage in LCH initiation and progression.", "output": {"entities": {"gene": [{"text": "DOR", "start": 4, "end": 7}], "disease": [{"text": "translocation", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "NUP98-HOXA9 bearing therapy-related myeloid neoplasm involves myeloid-committed cell and induces HOXA5, EVI1, FLT3, and MEIS1 expression.", "output": {"entities": {"gene": [{"text": "MEIS1", "start": 120, "end": 125}], "disease": [{"text": "therapy-related myeloid neoplasm", "start": 20, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Oxidative stress caused by a SOD1 deficiency ameliorates thioacetamide-triggered cell death via CYP2E1 inhibition but stimulates liver steatosis.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 29, "end": 33}], "disease": [{"text": "liver steatosis", "start": 129, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD1", "start": 29, "end": 33}, "tail": {"text": "liver steatosis", "start": 129, "end": 144}}]}}, "schema": []}
{"input": "Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies.", "output": {"entities": {"gene": [{"text": "FTO", "start": 8, "end": 11}], "disease": [{"text": "ciliopathies", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that hepatic steatosis causes the enhancement of hepatic GLUT2 mRNA expression, which may be associated with gluconeogenesis and insulin resistance.", "output": {"entities": {"gene": [{"text": "GLUT2", "start": 79, "end": 84}], "disease": [{"text": "hepatic steatosis", "start": 27, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLUT2", "start": 79, "end": 84}, "tail": {"text": "hepatic steatosis", "start": 27, "end": 44}}]}}, "schema": []}
{"input": "Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.", "output": {"entities": {"gene": [{"text": "INPPL1", "start": 28, "end": 34}], "disease": [{"text": "opsismodysplasia", "start": 59, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "INPPL1", "start": 28, "end": 34}, "tail": {"text": "opsismodysplasia", "start": 59, "end": 75}}]}}, "schema": []}
{"input": "Whereas the loss of function mutation of ZMPSTE24 normally results in lethal RD, the truncation of LMNA seems to be a salvage alteration alleviating the clinical picture to the HGPS phenotype.", "output": {"entities": {"gene": [{"text": "ZMPSTE24", "start": 41, "end": 49}], "disease": [{"text": "HGPS", "start": 177, "end": 181}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZMPSTE24", "start": 41, "end": 49}, "tail": {"text": "HGPS", "start": 177, "end": 181}}]}}, "schema": []}
{"input": "CD19 deficiency in B cells also attenuates skin fibrosis in the tight-skin (TSK/+) mouse, a genetic model for SSc.", "output": {"entities": {"gene": [{"text": "TSK", "start": 76, "end": 79}], "disease": [{"text": "fibrosis", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In this work, we have investigated if the SNPs APE1 Asn148Glu, OGG1 Ser326Cys, and PARP-1 Val762Ala are associated to meningitis.", "output": {"entities": {"gene": [{"text": "APE1", "start": 47, "end": 51}], "disease": [{"text": "meningitis", "start": 118, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "To determine the oncogenic potential of the t (14; 18) translocation, we produced transgenic mice bearing a Bcl-2-immunoglobulin minigene that structurally mimicked the t (14; 18).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 108, "end": 113}], "disease": [{"text": "translocation", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Previously, we mapped the 12-O-tetradecanoylphorbol-13-acetate (TPA) skin tumor promotion susceptibility locus, Psl1, to distal chromosome 9 in crosses of sensitive DBA/2 mice with relatively resistant C57BL/6 mice.", "output": {"entities": {"gene": [{"text": "Psl1", "start": 112, "end": 116}], "disease": [{"text": "tumor promotion", "start": 74, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.", "output": {"entities": {"gene": [{"text": "SLURP1", "start": 40, "end": 46}], "disease": [{"text": "Mal de Meleda", "start": 55, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLURP1", "start": 40, "end": 46}, "tail": {"text": "Mal de Meleda", "start": 55, "end": 68}}]}}, "schema": []}
{"input": "Significantly increased infiltration of pmTOR + inflammatory cells and decreased infiltration of Foxp3 + CD4 + Tregs into nasal polyps was observed, with an inverse association.", "output": {"entities": {"gene": [{"text": "CD4", "start": 105, "end": 108}], "disease": [{"text": "nasal polyps", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).", "output": {"entities": {"gene": [{"text": "PMM2", "start": 13, "end": 17}], "disease": [{"text": "Jaeken syndrome", "start": 122, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMM2", "start": 13, "end": 17}, "tail": {"text": "Jaeken syndrome", "start": 122, "end": 137}}]}}, "schema": []}
{"input": "Since CD38 ⁺ memory CD4 ⁺ T cells, especially those from HIV-infected persons, fail to induce CD154 (CD40L) while responding to a superantigen with interferon (IFN)-γ or interleukin (IL)-2, we aimed to determine if recall responses to cytomegalovirus (CMV) were similarly affected in the CD38 ⁺ memory CD4 ⁺ T-cell subpopulation.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 101, "end": 106}], "disease": [{"text": "cytomegalovirus", "start": 235, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that maternal hyperglycemia correlated with activation of the apoptosis signal-regulating kinase 1 (ASK1) in the developing neural tube, and Ask1 gene deletion was associated with reduced neuroepithelial cell apoptosis and development of neural tube defects.", "output": {"entities": {"gene": [{"text": "Ask1", "start": 157, "end": 161}], "disease": [{"text": "maternal hyperglycemia", "start": 21, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "These findings may indicate that the accumulated lumican protein in cancer cells at the periphery of cancer nests may play roles in the growth or invasion of human cervical cancer cells.", "output": {"entities": {"gene": [{"text": "lumican", "start": 49, "end": 56}], "disease": [{"text": "cervical cancer", "start": 164, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We have identified miR-216a as a microRNA that is induced during endothelial aging and, according to the computational analysis, among its targets includes two autophagy-related genes, Beclin1 (BECN1) and ATG5.", "output": {"entities": {"gene": [{"text": "ATG5", "start": 205, "end": 209}], "disease": [{"text": "aging", "start": 77, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The protein and mRNA levels of VEGF-A and EphA2 in the residual tumor tissues group that received HIFU were significantly decreased until 1 week compared with the control group (P < 0. 01).", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 31, "end": 37}], "disease": [{"text": "residual tumor", "start": 55, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Exploratory classification and regression tree (CART) analysis highlighted high-order gene-gene and gene-environment interactions and a genetic signature associated with differential response, with hOGG1-1245C > G as the most predictive factor.", "output": {"entities": {"gene": [{"text": "hOGG1", "start": 198, "end": 203}], "disease": [{"text": "regression", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Thus, SOM regulates both parasite burden and granulomatous inflammation perhaps through modulating granuloma production of IFN-γ and IL-1β.", "output": {"entities": {"gene": [{"text": "IFN", "start": 123, "end": 126}], "disease": [{"text": "granuloma", "start": 45, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We concluded that sevoflurane attenuates hypoxia-induced VEGF level via DNA methylation of the promoter region in TSCC cell.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 57, "end": 61}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The AML1 gene, which is located at the translocation breakpoint of the t (8; 21) (q22; q22) translocation found in acute myelocytic leukemia, was also rearranged by the t (3; 21) (q26; q22) translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 4, "end": 8}], "disease": [{"text": "translocation", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The Rae1-Nup98 complex prevents aneuploidy by inhibiting securin degradation.", "output": {"entities": {"gene": [{"text": "Rae1", "start": 4, "end": 8}], "disease": [{"text": "aneuploidy", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The prolyl hydrolase 1 (PHD1) is a key adjustment factor that mediates the HIF-1 degradation and relates with the process of tumorigenesis.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 75, "end": 80}], "disease": [{"text": "tumorigenesis", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the basis of androgen resistance in seven unrelated individuals with complete testicular feminization or Reifenstein syndrome caused by single amino acid substitutions in the hormone-binding domain of the androgen receptor.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 226, "end": 243}], "disease": [{"text": "Reifenstein syndrome", "start": 126, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 226, "end": 243}, "tail": {"text": "Reifenstein syndrome", "start": 126, "end": 146}}]}}, "schema": []}
{"input": "Here, we demonstrate that B7-H3 KO mice have significantly less inflammation, decreased pathogenesis, and limited disease progression in both EAE and CIA mouse models when compared with littermates; these results were accompanied by a decrease in IFN-γ and IL-17 production.", "output": {"entities": {"gene": [{"text": "B7-H3", "start": 26, "end": 31}], "disease": [{"text": "inflammation", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our study suggests that TACR1 gene variants have no major influence on suicidal behavior but may modulate aggression features.", "output": {"entities": {"gene": [{"text": "TACR1 gene", "start": 39, "end": 49}], "disease": [{"text": "aggression", "start": 121, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 105, "end": 111}], "disease": [{"text": "early-onset sarcoidosis", "start": 24, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CARD15", "start": 105, "end": 111}, "tail": {"text": "early-onset sarcoidosis", "start": 24, "end": 47}}]}}, "schema": []}
{"input": "These results suggest that the applicability of medical marijuana would be broadened by concurrent inhibition of COX-2.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 113, "end": 118}], "disease": [{"text": "marijuana", "start": 56, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 113, "end": 118}, "tail": {"text": "marijuana", "start": 56, "end": 65}}]}}, "schema": []}
{"input": "In contrast, mice treated with neutralizing CCR3 antibodies developed significantly reduced pulmonary fibrosis, eosinophilia, neutrophilia, and expression of profibrotic cytokines.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 44, "end": 48}], "disease": [{"text": "pulmonary fibrosis", "start": 92, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCR3", "start": 44, "end": 48}, "tail": {"text": "pulmonary fibrosis", "start": 92, "end": 110}}]}}, "schema": []}
{"input": "To elucidate ZNF331 expression patterns we performed Northern blot analyses on various normal tissues as well as on thyroid carcinoma and adenoma cell lines.", "output": {"entities": {"gene": [{"text": "ZNF331", "start": 13, "end": 19}], "disease": [{"text": "adenoma", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of miR-328 and inhibition of CREB-DNA-binding activity are critical for resveratrol-mediated suppression of matrix metalloproteinase-2 and subsequent metastatic ability in human osteosarcomas.", "output": {"entities": {"gene": [{"text": "miR-328", "start": 16, "end": 23}], "disease": [{"text": "osteosarcomas", "start": 191, "end": 204}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-328", "start": 16, "end": 23}, "tail": {"text": "osteosarcomas", "start": 191, "end": 204}}]}}, "schema": []}
{"input": "Together, our results suggested that therapeutic effects of RA-induced leukemia differentiation depend on AhR and its ability to downregulate the stem cell factor Oct4.", "output": {"entities": {"gene": [{"text": "stem cell factor", "start": 146, "end": 162}], "disease": [{"text": "leukemia", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Taking into account that downregulation of p27/Kip1 plays a significant role in corticotrope tumorigenesis and that EGFr mitogenic signaling results in decreased p27/Kip1, we searched for a correlation between EGFr expression and p27/Kip1 levels in corticotropinomas.", "output": {"entities": {"gene": [{"text": "p27", "start": 43, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We did not observe association between FTO variant and the magnitude of weight reduction achieved by long-term lifestyle intervention.", "output": {"entities": {"gene": [{"text": "FTO", "start": 39, "end": 42}], "disease": [{"text": "weight reduction", "start": 72, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We conducted a systematic review to analyze the frequency of microsatellite instability (MSI), immunohistochemical (IHC) staining for MMR proteins, and hypermethylation of the MLH1 promoter region in ovarian cancers.", "output": {"entities": {"gene": [{"text": "MMR", "start": 134, "end": 137}], "disease": [{"text": "microsatellite instability", "start": 61, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Univariate survival analysis and Cox proportional hazards regression model was used to determine if EGFR-TKIs readministration is tolerable as well as efficacious for a certain group of patients.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 100, "end": 104}], "disease": [{"text": "regression", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "RER positive nonfamilial carcinomas tended to be located more frequently in the right colon.", "output": {"entities": {"gene": [{"text": "RER", "start": 0, "end": 3}], "disease": [{"text": "carcinomas", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "This study identifies IGH as a new translocation partner of MALT1 in MALT lymphomas, which tend to arise frequently at sites other than the gastrointestinal tract and lung.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 60, "end": 65}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We also demonstrated that Smad1 and ALK1 were highly expressed in human diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 26, "end": 31}], "disease": [{"text": "diabetic nephropathy", "start": 72, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Over the last few years, a large body of literature has also implicated CD24 expression in tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "CD24", "start": 72, "end": 76}], "disease": [{"text": "tumorigenesis", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The absence of GPI-APs may well explain the main clinical findings of PNH, i. e., hemolysis and thrombosis in the venous system.", "output": {"entities": {"gene": [{"text": "GPI", "start": 15, "end": 18}], "disease": [{"text": "hemolysis", "start": 82, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In light of transgenic mouse experiments showing a key role for c-fos in bone resorption, we propose that elevated c-fos gene expression in pagetic osteoclasts is an important component in producing the pagetic phenotype.", "output": {"entities": {"gene": [{"text": "fos gene", "start": 117, "end": 125}], "disease": [{"text": "bone resorption", "start": 73, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We compared the proteomes of two oral cancer cells, CAL-27 and SAS, with the highest and the lowest migration potential, respectively, amongst six different oral cancer cell lines.", "output": {"entities": {"gene": [{"text": "SAS", "start": 63, "end": 66}], "disease": [{"text": "oral cancer", "start": 33, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "HNPCC is caused by a germline mutation in one of several identified mismatch repair (MMR) genes and typically presents with microsatellite instability (MSI) and frequent loss of MMR protein expression in the tumor tissue.", "output": {"entities": {"gene": [{"text": "MMR", "start": 85, "end": 88}], "disease": [{"text": "microsatellite instability", "start": 124, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Our data reveal that both multiplex qPCR and FISH assays are equally applicable for detection of RET/PTC rearrangements.", "output": {"entities": {"gene": [{"text": "RET", "start": 97, "end": 100}], "disease": [{"text": "PTC", "start": 101, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 97, "end": 100}, "tail": {"text": "PTC", "start": 101, "end": 104}}]}}, "schema": []}
{"input": "We conducted a study of 702 patients (184 healthy individuals, 171 non-infected critically ill patients, and 347 sepsis patients) to investigate if genetic polymorphisms in the CD32A coding region affect the risk of septic shock.", "output": {"entities": {"gene": [{"text": "CD32A", "start": 177, "end": 182}], "disease": [{"text": "septic shock", "start": 216, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "The polymerase chain reaction was used to amplify the glycosylasparaginase protein coding sequence from the three AGU patients in order to compare them to the normal sequence from a full-length human placenta cDNA clone HPAsn. 6 (Fisher, K. J., Tollersrud, O. K., and Aronson, N. N., Jr. (1990) FEBS Lett. 269, 440-444).", "output": {"entities": {"gene": [{"text": "glycosylasparaginase", "start": 54, "end": 74}], "disease": [{"text": "AGU", "start": 114, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glycosylasparaginase", "start": 54, "end": 74}, "tail": {"text": "AGU", "start": 114, "end": 117}}]}}, "schema": []}
{"input": "Does endogenous fatty acid metabolism allow cancer cells to sense hypoxia and mediate hypoxic vasodilatation? Characterization of a novel molecular connection between fatty acid synthase (FAS) and hypoxia-inducible factor-1alpha (HIF-1alpha)-related expression of vascular endothelial growth factor (VEGF) in cancer cells overexpressing her-2/neu oncogene.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 300, "end": 304}], "disease": [{"text": "hypoxic", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann' s corneal dystrophy.", "output": {"entities": {"gene": [{"text": "KRT12", "start": 43, "end": 48}], "disease": [{"text": "Meesmann' s corneal dystrophy", "start": 105, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT12", "start": 43, "end": 48}, "tail": {"text": "Meesmann' s corneal dystrophy", "start": 105, "end": 134}}]}}, "schema": []}
{"input": "The frequency of IL-10 + IFN-gamma-IL-4-CD4 + cells in the severe group was not significantly different from that in the mild group of those with non-atopic asthma.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 17, "end": 22}], "disease": [{"text": "mild", "start": 121, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Our data show that new mutations may occur in the androgen receptor gene leading to sporadic androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 50, "end": 72}], "disease": [{"text": "sporadic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p. Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 154, "end": 160}], "disease": [{"text": "PNDM", "start": 27, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ11", "start": 154, "end": 160}, "tail": {"text": "PNDM", "start": 27, "end": 31}}]}}, "schema": []}
{"input": "Pulmonary endothelial nitric oxide synthase gene expression is decreased in a rat model of congenital diaphragmatic hernia.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 10, "end": 43}], "disease": [{"text": "diaphragmatic hernia", "start": 102, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "endothelial nitric oxide synthase", "start": 10, "end": 43}, "tail": {"text": "diaphragmatic hernia", "start": 102, "end": 122}}]}}, "schema": []}
{"input": "Of the more than 200 genes upregulated by these treatments, three of these, neuronatin, metallothionein 3 and cystatin E/M, were frequently hypermethylated and transcriptionally downregulated in NSCLC cell lines and tumors.", "output": {"entities": {"gene": [{"text": "cystatin E/M", "start": 110, "end": 122}], "disease": [{"text": "NSCLC", "start": 195, "end": 200}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cystatin E/M", "start": 110, "end": 122}, "tail": {"text": "NSCLC", "start": 195, "end": 200}}]}}, "schema": []}
{"input": "Whereas increases in cardiomyocyte apoptosis were not apparent, we detected robust increases in Bnip3 (Bcl2/adenovirus E1B 19-kDa interacting protein 3), an established downstream target of FoxO3.", "output": {"entities": {"gene": [{"text": "FoxO3", "start": 190, "end": 195}], "disease": [{"text": "adenovirus", "start": 108, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In summary, our findings provide some support for the individual involvement of DAO and G72 (DAOA)/G30 in the etiology of bipolar disorder.", "output": {"entities": {"gene": [{"text": "DAO", "start": 80, "end": 83}], "disease": [{"text": "bipolar disorder", "start": 122, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DAO", "start": 80, "end": 83}, "tail": {"text": "bipolar disorder", "start": 122, "end": 138}}]}}, "schema": []}
{"input": "To test the effects of decreased α1Na, K-ATPase expression on blood pressure, we measured blood pressure by radiotelemetry in three month-old, highly inbred heterozygous knockout ATP1A1 +/-male mice with resultant 58% reduction in ATP1A1 protein levels.", "output": {"entities": {"gene": [{"text": "ATP1A1", "start": 179, "end": 185}], "disease": [{"text": "blood pressure", "start": 62, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The proband, born to consanguineous parents, presented with proportional growth failure (height 108. 8 cm,-3. 48 SDS), combined pituitary hormone deficiency (GH, TSH, PRL and gonadotropins) and a suprasellar mass with optic chiasm invasion, compatible with a diagnosis of chiasmatic hypothalamic glioma, as revealed by MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 319, "end": 322}], "disease": [{"text": "height", "start": 89, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "IgVH gene segments usage and mutation status were investigated by multiplex RT-PCR, and the relationship between IgVH somatic mutation status and the expression of CD38 and ZAP-70 was analyzed in 65 CLL patients.", "output": {"entities": {"gene": [{"text": "CD38", "start": 164, "end": 168}], "disease": [{"text": "somatic mutation", "start": 118, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The almost universal finding of osteopenia in Gaucher disease and the unpredictable advent of avascular necrosis and/or pathological fractures are clinically relevant issues that are not necessarily reversed by specific enzyme replacement therapy (ERT).", "output": {"entities": {"gene": [{"text": "ERT", "start": 248, "end": 251}], "disease": [{"text": "osteopenia", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Sanfilippo type B syndrome (mucopolysaccharidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder that is caused by defective alpha-N-acetylglucosaminidase (NAGLU).", "output": {"entities": {"gene": [{"text": "MPS IIIB", "start": 61, "end": 69}], "disease": [{"text": "mucopolysaccharidosis type IIIB", "start": 28, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MPS IIIB", "start": 61, "end": 69}, "tail": {"text": "mucopolysaccharidosis type IIIB", "start": 28, "end": 59}}]}}, "schema": []}
{"input": "These findings suggest that progression of retinal degeneration in Rdh8 (-/-) Abca4 (-/-) mice is affected by differential vulnerability of rods and cones to light.", "output": {"entities": {"gene": [{"text": "Abca4", "start": 78, "end": 83}], "disease": [{"text": "retinal degeneration", "start": 43, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We screened for ARG1 mutations and measured erythrocyte enzyme activity in a series of 16 Brazilian HA patients.", "output": {"entities": {"gene": [{"text": "ARG1", "start": 16, "end": 20}], "disease": [{"text": "HA", "start": 100, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARG1", "start": 16, "end": 20}, "tail": {"text": "HA", "start": 100, "end": 102}}]}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "TRMT11", "start": 33, "end": 39}], "disease": [{"text": "non-small cell lung cancer", "start": 102, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRMT11", "start": 33, "end": 39}, "tail": {"text": "non-small cell lung cancer", "start": 102, "end": 128}}]}}, "schema": []}
{"input": "In preliminary screens, mutations of PTEN were detected in 31% (13/42) of glioblastoma cell lines and xenografts, 100% (4/4) of prostate cancer cell lines, 6% (4/65) of breast cancer cell lines and xenografts, and 17% (3/18) of primary glioblastomas.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 37, "end": 41}], "disease": [{"text": "prostate cancer", "start": 128, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 37, "end": 41}, "tail": {"text": "prostate cancer", "start": 128, "end": 143}}]}}, "schema": []}
{"input": "Finally, we show that VEGF protects MM patient cells against FBS starvation-induced apoptosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 22, "end": 26}], "disease": [{"text": "starvation", "start": 65, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "This translocation results in the fusion of the bcl-2 oncogene on chromosome 18 with immunoglobulin heavy chain genes on chromosome 14, and in the expression of higher amounts of normal bcl-2 protein.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 48, "end": 53}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest a low prevalence of FLG mutations in mild AD and support an important role for filaggrin in determining the physicochemical parameters of the SC.", "output": {"entities": {"gene": [{"text": "filaggrin", "start": 100, "end": 109}], "disease": [{"text": "mild", "start": 58, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "CXCL9 or CXCL10 induced in vitro glioma cell growth in GL261-and U87-GS as well as inhibited cell loss in U138-GS cells and this effect was antagonized by NBI-74330.", "output": {"entities": {"gene": [{"text": "U87", "start": 65, "end": 68}], "disease": [{"text": "glioma", "start": 33, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "However, the tumors formed by the cells expressing exogenous VEGF (121) or VEGF (165) retained the phenotype of AA, lacking areas of necrosis that are the hallmark of the GBM phenotype.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 61, "end": 65}], "disease": [{"text": "necrosis", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Gadd45 and to a lesser extent Gadd153 (stress genes induced by, e. g., ionizing radiation and ischaemia) were up-regulated, as well as p21waf1, cip1, a protein participating in cell cycle regulation that can interact with Gadd45.", "output": {"entities": {"gene": [{"text": "Gadd153", "start": 30, "end": 37}], "disease": [{"text": "ischaemia", "start": 94, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Studies on adhesion and signalling activities using pharmacological inhibitors or by transient-transfection approaches showed that inhibition of ERK1/ERK2 activity increased TGF-beta1-mediated cell adhesion slightly, but not the basal cell adhesion significantly, and that c-Src family kinase activity and decrease in Ras/ERKs cascade activity were required for the TGF-beta1 effects.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 145, "end": 149}], "disease": [{"text": "adhesion", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The risk analysis showed that under a dominant model, the LIPC C-514T polymorphism was associated with increased risk of type 2 diabetes (OR = 1. 42, P = 0. 029), hypertriglyceridemia (OR = 1. 36, P = 0. 006), and coronary artery calcification (CAC) ≥ 1 (OR = 1. 44, P = 0. 015) and decreased risk of hypoalphalipoproteinemia (OR = 0. 78, P = 0. 036).", "output": {"entities": {"gene": [{"text": "LIPC", "start": 58, "end": 62}], "disease": [{"text": "coronary artery calcification", "start": 214, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Our goal was to investigate whether a polymorphism in the insulin-like growth factor I promoter gene (IGF-I, wild-type, 192 base pairs) and in the insulin gene (INS) variable number of tandem repeat locus influence birth weight and weight gain in infancy.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 102, "end": 107}], "disease": [{"text": "birth weight", "start": 215, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Newly described small molecules that inhibit BET proteins BRD2, BRD3, and BRD4 reduce proliferation of NUT (nuclear protein in testis)-midline carcinoma, multiple myeloma, and leukemia cells in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "BRD3", "start": 64, "end": 68}], "disease": [{"text": "multiple myeloma", "start": 154, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "To develop a novel therapeutic approach for treating renal fibrosis, we examined the simultaneous inhibition of the transcription factors NF-κB and Sp1 in a mouse model of unilateral ureteral obstruction (UUO).", "output": {"entities": {"gene": [{"text": "Sp1", "start": 148, "end": 151}], "disease": [{"text": "ureteral obstruction", "start": 183, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "In a mouse limb ischemia model, an injection of naïve APCs, but not SOD3-silenced APCs, helps perfusion recovery and neovascularization, thus underlining the importance of this soluble isoform in protection from ischemia.", "output": {"entities": {"gene": [{"text": "SOD3", "start": 68, "end": 72}], "disease": [{"text": "neovascularization", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "SFRP1", "start": 218, "end": 223}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SFRP1", "start": 218, "end": 223}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "To examine the association of glutathione-S-transferase (GST) gene polymorphisms in patients with sporadic prostate cancer, in a North Indian population, as GSTs are active in detoxifying a wide variety of endogenous or exogenous carcinogens, and genetic polymorphisms of GSTM1, GSTT1 and GSTP1 have been assessed to evaluate the relative risk of various cancers.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 272, "end": 277}], "disease": [{"text": "sporadic", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous Phox2b (27Ala/+) pups exhibited a lack of responsiveness to hypercapnia and unstable breathing; they died within the first few postnatal hours.", "output": {"entities": {"gene": [{"text": "Phox2b", "start": 13, "end": 19}], "disease": [{"text": "breathing", "start": 98, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We identified 25 new SNP-CAD associations (P & lt; 5 & #215; 10 & lt; sup & gt;-8 & lt;/sup & gt;, in fixed-effects meta-analysis) from 15 genomic regions, including SNPs in or near genes involved in cellular adhesion, leukocyte migration and atherosclerosis (PECAM1, rs1867624), coagulation and inflammation (PROCR, rs867186 (p. Ser219Gly)) and vascular smooth muscle cell differentiation (LMOD1, rs2820315).", "output": {"entities": {"gene": [{"text": "PROCR", "start": 310, "end": 315}], "disease": [{"text": "CAD", "start": 25, "end": 28}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PROCR", "start": 310, "end": 315}, "tail": {"text": "CAD", "start": 25, "end": 28}}]}}, "schema": []}
{"input": "In conclusion, a hypoxic environment may modulate JAK2-positive MPN cell fate and disease progression through the suppression of SHP-2 function and the subsequent suppression of JAK2V617F activity.", "output": {"entities": {"gene": [{"text": "SHP-2", "start": 129, "end": 134}], "disease": [{"text": "hypoxic", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Here we show in a mouse model of chronic hypoxia (CH)-induced PH that the nuclear protein and damage-associate molecular pattern molecule (DAMP) high mobility group box 1 (HMGB1) contributes to PH via a Toll-like receptor 4 (TLR4)-dependent mechanism.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 172, "end": 177}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Compared with non-inflammatory bowel disease, inflamed CD LPMCs contained more TGR5 transcripts.", "output": {"entities": {"gene": [{"text": "TGR5", "start": 79, "end": 83}], "disease": [{"text": "CD", "start": 55, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGR5", "start": 79, "end": 83}, "tail": {"text": "CD", "start": 55, "end": 57}}]}}, "schema": []}
{"input": "Given the important role of cell mediated immunity in viral clearance and control of premalignant lesions, we hypothesize that variation in the IL-12/IL-10 cytokine and cytokine receptor genes may influence cervical and vulvar cancer risk.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 150, "end": 155}], "disease": [{"text": "vulvar cancer", "start": 220, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Obtained data revealed remarkable increase in the expression levels of GHR and NEDD9 proteins in both epithelial and stromal components of axillary lymph node metastases in comparison with those of non-metastatic tumours, suggesting that the expression of these two proteins may provide biomarkers for tumour aggressiveness.", "output": {"entities": {"gene": [{"text": "NEDD9", "start": 79, "end": 84}], "disease": [{"text": "aggressiveness", "start": 309, "end": 323}]}, "relations": {}}, "schema": []}
{"input": "The single measurement of serum S100B at 6 h after ICH induction was significantly correlated with brain edema formation and the maximal extent of the hematoma volumes.", "output": {"entities": {"gene": [{"text": "S100B", "start": 32, "end": 37}], "disease": [{"text": "brain edema", "start": 99, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100B", "start": 32, "end": 37}, "tail": {"text": "brain edema", "start": 99, "end": 110}}]}}, "schema": []}
{"input": "We investigated the role of PARP in regulating ET-1 expression and ET-1-induced abnormalities in the targets organs of diabetic complications.", "output": {"entities": {"gene": [{"text": "PARP", "start": 28, "end": 32}], "disease": [{"text": "diabetic complications", "start": 119, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "A 15-yr-old adolescent, born small for gestational age, showed persistent postnatal growth retardation, microcephaly, and elevated IGF-I levels.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 131, "end": 136}], "disease": [{"text": "postnatal growth retardation", "start": 74, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The EGFR is a 170-kDa cell-surface protein involved in many biological processes, such as proliferation, migration, DNA synthesis and adhesion.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 4, "end": 8}], "disease": [{"text": "adhesion", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that the absence of functional dysferlin in the asymptomatic fukutin (Hp/-) mice triggers disease manifestation and aggravates the dystrophic phenotype.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 51, "end": 60}], "disease": [{"text": "asymptomatic", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "IL-18 was detected within glial cells and neurons in the brain of subjects affected by tuberous sclerosis and encephalitis whereas in healthy subjects, only a weak IL-18 positivity was detected at the level of glial cells.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 0, "end": 5}], "disease": [{"text": "tuberous sclerosis", "start": 87, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "However, as hypericin-mediated PDT primarily targets tumor vasculature, it induces certain pro-angiogenic factors such as vascular endothelial growth factor (VEGF) in the tumor tissue as a result of hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 158, "end": 162}], "disease": [{"text": "hypoxia", "start": 199, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "MT1G and CRABP1 are novel genes that are likely involved in the pathogenesis of sporadic PTC.", "output": {"entities": {"gene": [{"text": "CRABP1", "start": 9, "end": 15}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Methylation status of cyclin-dependent kinase inhibitor genes within the transforming growth factor beta pathway in human T-cell lymphoblastic lymphoma/leukemia.", "output": {"entities": {"gene": [{"text": "cyclin-dependent kinase inhibitor", "start": 22, "end": 55}], "disease": [{"text": "lymphoblastic lymphoma", "start": 129, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "In addition to reducing blood pressure, the renoprotective of iptakalim may be involved in inhibiting the circulation and intrarenal concentrations of endothelin 1 and TGF-beta1, regulating the expression of K (ATP) genes and correcting MMP-9/TIMP-1 imbalance in renal tissue, which may result in reducing the accumulation of extracellular matrix molecules.", "output": {"entities": {"gene": [{"text": "endothelin 1", "start": 151, "end": 163}], "disease": [{"text": "blood pressure", "start": 24, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Therefore, current study provides novel clues for the crucial role of Wnt5a in the smoking-related lung carcinogenesis.", "output": {"entities": {"gene": [{"text": "Wnt5a", "start": 70, "end": 75}], "disease": [{"text": "smoking", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the majority of NF2 patients carry an inactivating mutation of the NF2 gene and that neutral polymorphism in the gene is rare.", "output": {"entities": {"gene": [{"text": "NF2", "start": 33, "end": 36}], "disease": [{"text": "NF2", "start": 84, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF2", "start": 33, "end": 36}, "tail": {"text": "NF2", "start": 84, "end": 87}}]}}, "schema": []}
{"input": "Multiple factors affected anemia status, including the following: age groups 6-11. 99 mo (OR: 6. 1; 95% CI: 4. 3, 8. 7) and 12-23. 99 mo (OR: 2. 7; 95% CI: 2. 1, 3. 6); Hb type, notably Hb EE (OR: 18. 5; 95% CI: 8. 5, 40. 4); low ferritin (OR: 3. 2; 95% CI: 2. 2, 4. 7); elevated AGP (OR: 1. 4; 95% CI: 1. 2, 1. 7); rural setting (OR: 2. 3; 95% CI: 1. 7, 3. 1); low RBP (OR: 3. 6; 95% CI: 2. 2, 5. 9); and elevated sTfR (OR: 2. 1; 95% CI: 1. 7, 2. 7).", "output": {"entities": {"gene": [{"text": "RBP", "start": 366, "end": 369}], "disease": [{"text": "anemia", "start": 26, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Two hundred twenty-six patients with the pathologic diagnosis of sporadic prostate tumor and 156 healthy matched (age, ethnic group) male controls from a large epidemiologic cohort were genotyped for previously described polymorphisms in the androgen receptor (AR), 5alpha-reductase type II (SRD5A2), p450c17 (CYP17), and aromatase (CYP19) genes.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 242, "end": 259}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that altered AHRR methylation in monocytes, a cell type sensitive to cigarette smoking and involved in atherogenesis, may be a part of the biological link between cigarette smoking and atherosclerosis.", "output": {"entities": {"gene": [{"text": "AHRR", "start": 29, "end": 33}], "disease": [{"text": "atherogenesis", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "These data are consistent with the hypothesis that a direct connection exists between low activity of DNASE1 and progression of human SLE.", "output": {"entities": {"gene": [{"text": "DNASE1", "start": 102, "end": 108}], "disease": [{"text": "SLE", "start": 134, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNASE1", "start": 102, "end": 108}, "tail": {"text": "SLE", "start": 134, "end": 137}}]}}, "schema": []}
{"input": "Quantitative real-time polymerase chain reaction confirmed increased mRNA expression of several genes in the bladder samples of patients with ulcerative interstitial cystitis, including CXCR3 binding chemokines (CXCL9, 10 and 11) and TNFSF14 (LIGHT).", "output": {"entities": {"gene": [{"text": "CXCL9", "start": 212, "end": 217}], "disease": [{"text": "ulcerative", "start": 142, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Rats treated with AG (25 and 50 mg/kg), GED (2. 5 mg/kg), and 1400W (0. 1 mg/kg) showed decreased total ulcer length and MPO activity by 51, 72, 53, and 61% and by 58, 88, 68, and 70%, respectively, compared to INDO alone.", "output": {"entities": {"gene": [{"text": "MPO", "start": 121, "end": 124}], "disease": [{"text": "ulcer", "start": 104, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Pathway analysis showed that the p53 and Notch signaling pathways may play an important role in tumorigenesis and progression of PHPAs, and extracellular matrix (ECM)-receptor interactions likely play a role in the inhibition of invasion and metastasis in these tumors.", "output": {"entities": {"gene": [{"text": "ECM", "start": 162, "end": 165}], "disease": [{"text": "tumorigenesis", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Using a weighted regression analysis implemented in the program SCORE-Seq, we found a rare variant constellation across the entire NKAIN1-SERINC2 region that was associated with alcohol dependence in European-Americans (Fp: overall, P = 1. 8 & #215; 10 (-4); VT: overall, P = 1. 4 & #215; 10 (-4); Collapsing, P = 6. 5 & #215; 10 (-5)) and European-Australians (Fp: overall, P = 0. 028; Collapsing, P = 0. 025), but not in African-Americans, and not associated with any other disorder examined.", "output": {"entities": {"gene": [{"text": "SERINC2", "start": 138, "end": 145}], "disease": [{"text": "alcohol dependence", "start": 178, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SERINC2", "start": 138, "end": 145}, "tail": {"text": "alcohol dependence", "start": 178, "end": 196}}]}}, "schema": []}
{"input": "Recent evidence suggests that gamma-synuclein is abnormally expressed in a high percentage of tumor tissues of diversified cancer types, but rarely expressed in tumor-matched non-neoplastic adjacent tissues (NNAT).", "output": {"entities": {"gene": [{"text": "NNAT", "start": 208, "end": 212}], "disease": [{"text": "non-neoplastic", "start": 175, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "The supplementation of FGF-2 and BDNF attenuated various parameters of inflammation, including astrocytosis, microcytosis and IL-1 & #946; expression.", "output": {"entities": {"gene": [{"text": "FGF-2", "start": 23, "end": 28}], "disease": [{"text": "astrocytosis", "start": 95, "end": 107}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FGF-2", "start": 23, "end": 28}, "tail": {"text": "astrocytosis", "start": 95, "end": 107}}]}}, "schema": []}
{"input": "Patients with MSI tumors did well in recurrence-free interval (RFI) as well as disease-specific survival (DSS) irrespective of treatment arm and tumor stage.", "output": {"entities": {"gene": [{"text": "RFI", "start": 63, "end": 66}], "disease": [{"text": "tumors", "start": 18, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Tracking of the SCG10 pathway in hepatic stellate cells shows that SCG10 initially accumulates in the perinuclear Golgi area then migrates in small vesicle-like structures along individual microtubules.", "output": {"entities": {"gene": [{"text": "SCG10", "start": 16, "end": 21}], "disease": [{"text": "vesicle", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In this study we found further evidence for the association of polymorphism in the EGF gene with pre-eclampsia and the weight of babies at birth and identified rs3756261A > G as the SNP that makes the most significant contribution to this association.", "output": {"entities": {"gene": [{"text": "EGF gene", "start": 83, "end": 91}], "disease": [{"text": "weight", "start": 119, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Compared with that in the control group, ADM contents in plasma and right ventricular tissue in hypoxia group increased by 1. 26 and 1. 68 folds (all P < 0. 01), respectively.", "output": {"entities": {"gene": [{"text": "ADM", "start": 41, "end": 44}], "disease": [{"text": "hypoxia", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "CAR and PXR are involved in the development of certain diseases, including diabetes, metabolic syndrome and obesity.", "output": {"entities": {"gene": [{"text": "CAR", "start": 0, "end": 3}], "disease": [{"text": "diabetes", "start": 75, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAR", "start": 0, "end": 3}, "tail": {"text": "diabetes", "start": 75, "end": 83}}]}}, "schema": []}
{"input": "These conditions are initiated and sustained by hypoxia dependent vascular endothelial growth factor (VEGF) expression in the eye.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 102, "end": 106}], "disease": [{"text": "hypoxia", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We found a significant correlation between CRIP1 and HER2 (human epidermal growth factor receptor 2) expression levels (p = 0. 016) in tumor tissues.", "output": {"entities": {"gene": [{"text": "CRIP1", "start": 43, "end": 48}], "disease": [{"text": "tumor", "start": 135, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The mean corpuscular volume (MCV) values for males and females were 63. 7 ± 3. 7 and 63. 2 ± 3. 2 fL, respectively, while these values were 19. 3 ± 1. 6 and 19. 3 ± 1. 4 pg for mean corpuscular hemoglobin (Hb) (MCH).", "output": {"entities": {"gene": [{"text": "MCH", "start": 211, "end": 214}], "disease": [{"text": "mean corpuscular hemoglobin", "start": 177, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "In transient transfections, a luciferase reporter construct containing the full-length 1. 5-kb VEGF promoter or a 1. 2-kb fragment lacking the known hypoxic-response element also exhibited the same degree of response to IL-6.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 95, "end": 99}], "disease": [{"text": "hypoxic", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We propose that IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in DSMA1 patients.", "output": {"entities": {"gene": [{"text": "IGHMBP2", "start": 16, "end": 23}], "disease": [{"text": "DSMA1", "start": 137, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IGHMBP2", "start": 16, "end": 23}, "tail": {"text": "DSMA1", "start": 137, "end": 142}}]}}, "schema": []}
{"input": "Then, it became progressively restricted from E10. 5 to E12. 5, to become detectable later essentially in the nervous system and various epithelia.", "output": {"entities": {"gene": [{"text": "E12", "start": 56, "end": 59}], "disease": [{"text": "nervous system", "start": 110, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) is regarded as a key event in tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 70, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We analyzed Melanocortin 2 receptor (MC2R), Androgen Receptor (AR), Leptin (LEP), and Steroidogenic factor 1 (SF1) expression using real-time qRT-PCR in two giant bilateral adrenal myelolipomas from two untreated simple virilizing CAH cases and in two sporadic adrenal myelolipomas.", "output": {"entities": {"gene": [{"text": "Androgen Receptor", "start": 44, "end": 61}], "disease": [{"text": "sporadic", "start": 252, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "In addition, we demonstrated a close correlation between PAK5 and phospho-Ser39 E47 expression in colon cancer specimens.", "output": {"entities": {"gene": [{"text": "E47", "start": 80, "end": 83}], "disease": [{"text": "colon cancer", "start": 98, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Pretreatment with Ad. VEGF (10 (8) pfu) increased endothelial nitric oxide synthase activity in lung tissue and partially restored endothelium-dependent vasodilation in isolated lungs from chronically hypoxic rats, as assessed by improvement of ionophore A23187-induced vasodilation and attenuation of endothelin-1 (300 pmol)-induced vasoconstriction, an effect abolished in the presence of nitro-L-arginine methylester.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 22, "end": 26}], "disease": [{"text": "hypoxic", "start": 201, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "To identify mutations in 22 families presenting with clinical symptoms of either PC-1/focal non-epidermolytic palmoplantar keratoderma (FNEPPK) or PC-2.", "output": {"entities": {"gene": [{"text": "PC-2", "start": 147, "end": 151}], "disease": [{"text": "focal non-epidermolytic palmoplantar keratoderma", "start": 86, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Previous studies showed that animals presenting seizures and submitted to 24h of status epilepticus showed normal levels of superoxide dismutase and increased in catalase activities as well as an increase in hippocampal lipid peroxidation and nitrite concentrations.", "output": {"entities": {"gene": [{"text": "catalase", "start": 162, "end": 170}], "disease": [{"text": "seizures", "start": 48, "end": 56}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 162, "end": 170}, "tail": {"text": "seizures", "start": 48, "end": 56}}]}}, "schema": []}
{"input": "Overlapping genetic and environmental factors contribute to obesity and infertility including the androgen receptor (AR), a steroid hormone-activated transcription factor that is key in regulating androgen activity and sensitivity to sex hormones, weight and body composition in both males and females.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 98, "end": 115}], "disease": [{"text": "weight", "start": 248, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "All patients with SHP had low serum 1, 25-dihydroxyvitamin D (3) levels and elevated serum levels of intact parathyroid hormone (iPTH), CRP and IL-6.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 144, "end": 148}], "disease": [{"text": "SHP", "start": 18, "end": 21}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 144, "end": 148}, "tail": {"text": "SHP", "start": 18, "end": 21}}]}}, "schema": []}
{"input": "Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c. 2107A--& gt; T, p. 703K--& gt; X) in exon 18 of the CUL4B gene.", "output": {"entities": {"gene": [{"text": "CUL4B", "start": 209, "end": 214}], "disease": [{"text": "Cabezas syndrome", "start": 55, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CUL4B", "start": 209, "end": 214}, "tail": {"text": "Cabezas syndrome", "start": 55, "end": 71}}]}}, "schema": []}
{"input": "In microarray experiments that compared normal tubal epithelium with high-grade serous carcinoma (HGSC), we observed a decrease in LKB1 mRNA expression in HGSC.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 131, "end": 135}], "disease": [{"text": "serous carcinoma", "start": 80, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "MtDNA-related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged-red fibres (RRF) as the morphological hallmark, or \" pure \" encephalopathies with no gross morphological abnormalities in muscle.", "output": {"entities": {"gene": [{"text": "RRF", "start": 143, "end": 146}], "disease": [{"text": "mitochondrial encephalomyopathies", "start": 56, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In this study, we also showed that Sp1 was poly (ADP-ribosyl) ated by PARP-1 in hepatoma cells.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 35, "end": 38}], "disease": [{"text": "hepatoma", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Multiple genes showed significant evidence of differential methylation, several appearing in both ulcerative colitis and Crohn' s disease comparisons including THRAP2, FANCC, GBGT1, DOK2, TNFSF4, TNFSF12, and FUT7.", "output": {"entities": {"gene": [{"text": "TNFSF4", "start": 188, "end": 194}], "disease": [{"text": "ulcerative colitis", "start": 98, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Mutations in as many as 13 genes give rise to ∼ 10 variants of NCL, all with overlapping clinical symptomatology including visual impairment, motor and cognitive dysfunction, seizures, and premature death.", "output": {"entities": {"gene": [{"text": "NCL", "start": 63, "end": 66}], "disease": [{"text": "seizures", "start": 175, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Using real-time quantitative RT-PCR assay, we found that the expression of LYL1 was at higher levels in the majority cases of acute myeloblastic leukemia (AML) or myelodysplastic syndrome when compared to normal bone marrow.", "output": {"entities": {"gene": [{"text": "LYL1", "start": 75, "end": 79}], "disease": [{"text": "myelodysplastic syndrome", "start": 163, "end": 187}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LYL1", "start": 75, "end": 79}, "tail": {"text": "myelodysplastic syndrome", "start": 163, "end": 187}}]}}, "schema": []}
{"input": "In the present study, we observed that IGF-1 was able to induce ZNF143 expression in HCT116 human colon cancer cells and that wortmannin, an inhibitor of phosphatidylinositide 3-kinase (PI3-kinase), inhibited this induction, as did diphenyleneiodonium (DPI), an NADPH oxidase inhibitor, and monodansylcardavarine (MDC), a receptor internalization inhibitor.", "output": {"entities": {"gene": [{"text": "MDC", "start": 314, "end": 317}], "disease": [{"text": "colon cancer", "start": 98, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In total, 139 malignant mesothelioma patients were genotyped for seven tag SNPs in REV1 and REV3L.", "output": {"entities": {"gene": [{"text": "REV1", "start": 83, "end": 87}], "disease": [{"text": "malignant mesothelioma", "start": 14, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In mice and man, loss of ClC-7 or the H (+)-ATPase a3 subunit causes osteopetrosis, a disease characterized by defective bone resorption.", "output": {"entities": {"gene": [{"text": "ClC-7", "start": 25, "end": 30}], "disease": [{"text": "bone resorption", "start": 121, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Altogether, our results suggest a role for OSM in the prevention of melanoma progression and that metastatic melanoma cells could escape this growth control by the epigenetic silencing of OSMRbeta.", "output": {"entities": {"gene": [{"text": "OSM", "start": 43, "end": 46}], "disease": [{"text": "melanoma", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "One hundred and forty two hospitalised patients, affected by major depression and treated with antidepressants drugs for a major depressive episode were evaluated for depressive severity at the baseline and at the discharge and genotyped for five SNPs within the genes HSPA1L, HSPA1A and HSPA1B.", "output": {"entities": {"gene": [{"text": "HSPA1L", "start": 269, "end": 275}], "disease": [{"text": "major depression", "start": 61, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSPA1L", "start": 269, "end": 275}, "tail": {"text": "major depression", "start": 61, "end": 77}}]}}, "schema": []}
{"input": "An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t (16; 21) chromosomal translocation.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 3, "end": 22}], "disease": [{"text": "chromosomal translocation", "start": 96, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "A boy with recurrent episodes of hypoglycaemia and ataxia, microcephaly, mental retardation, permanent lactic acidaemia, intermittent 2-oxoglutaric aciduria as well as elevation of serum branched chain amino acids was diagnosed with dihydrolipoamide dehydrogenase (E3) deficiency.", "output": {"entities": {"gene": [{"text": "dihydrolipoamide dehydrogenase", "start": 233, "end": 263}], "disease": [{"text": "E3) deficiency", "start": 265, "end": 279}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dihydrolipoamide dehydrogenase", "start": 233, "end": 263}, "tail": {"text": "E3) deficiency", "start": 265, "end": 279}}]}}, "schema": []}
{"input": "When human neuroblastoma SH-SY5Y cells were transfected with DJ-1-specific small interfering RNAs and exposed to paraquat, we observed (i) sensitization additive with paraquat-induced apoptotic cell death, (ii) inhibition of the cytoplasmic accumulation of autophagic vacuoles as well as the recruitment of LC3 fusion protein to the vacuoles, (iii) exacerbation of apoptotic cell death in the presence of the autophagy inhibitor 3-methyladenine, and (iv) an increase in mammalian target of rapamycin phosphorylation.", "output": {"entities": {"gene": [{"text": "LC3", "start": 307, "end": 310}], "disease": [{"text": "autophagic vacuoles", "start": 257, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Here we report that we have detected germline mutations in the VHL gene in 100% (93/93) of VHL families tested.", "output": {"entities": {"gene": [{"text": "VHL", "start": 63, "end": 66}], "disease": [{"text": "VHL", "start": 91, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VHL", "start": 63, "end": 66}, "tail": {"text": "VHL", "start": 91, "end": 94}}]}}, "schema": []}
{"input": "Secretion of VEGF is increased by hypoxia and growth factor stimulation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 13, "end": 17}], "disease": [{"text": "hypoxia", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous FV: Q506 was found in combination with heterozygous type I deficiency states of protein C (n = 2), protein S (n = 13), antithrombin (n = 8) and HCII (n = 1), increased Lp (a) (n = 13), and once each with elevated levels of F. II, moderate hyperhomocysteinemia, fibrinogen concentrations > 700 mg/dl and increased HRGP.", "output": {"entities": {"gene": [{"text": "HRGP", "start": 326, "end": 330}], "disease": [{"text": "hyperhomocysteinemia", "start": 252, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "Rare PRSS1 variants found in sporadic chronic pancreatitis do not stimulate autoactivation but may cause increased degradation, impaired secretion or no functional change.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 5, "end": 10}], "disease": [{"text": "sporadic", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The current results suggested that constitutive expression of EphA2 may contribute to the aggressive behavior and cellular survival of MMCs.", "output": {"entities": {"gene": [{"text": "EphA2", "start": 62, "end": 67}], "disease": [{"text": "aggressive behavior", "start": 90, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We studied the association between polymorphisms of genes coding for dopamine D (2) (DRD2), dopamine D (3) (DRD3), serotonin 2 (a) (HTR2A), and serotonin 2 (c) (HTR2C) receptors and Antipsychotic-Induced Parkinsonism (AIP), rigidity, bradykinesia, and rest-tremor in African-Caribbeans treated with antipsychotics.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 85, "end": 89}], "disease": [{"text": "tremor", "start": 257, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "In an effort to evaluate the potential diagnostic role of p16INK4a and p14ARF promoter methylation in biliary disease, endoscopical obtained bile specimens of 71 patients were analyzed (26 choledocholithiasis, 6 with normal results, 23 bile duct carcinoma, 5 gall bladder carcinoma).", "output": {"entities": {"gene": [{"text": "p14ARF", "start": 71, "end": 77}], "disease": [{"text": "choledocholithiasis", "start": 189, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "For this purpose, androgen receptor (AR) and estrogen receptor (ER alpha and ER beta) expression was quantified in 12 clinically localized and 11 hormone-refractory sporadic prostate tumors, using real-time quantitative reverse transcription-PCR assays.", "output": {"entities": {"gene": [{"text": "ER beta", "start": 77, "end": 84}], "disease": [{"text": "sporadic", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Aberrant maspin expression in human endometrial cancer.", "output": {"entities": {"gene": [{"text": "maspin", "start": 9, "end": 15}], "disease": [{"text": "endometrial cancer", "start": 36, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF), which is induced by hypoxia or cytokines, plays a critical role in the abnormal growth of blood vessels.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxia", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The PARK16 SNPs rs823128, rs947211, and rs823156 and the CAAAC, TGAGA, and CAGAC haplotypes may be significantly associated with sporadic PD in Japan.", "output": {"entities": {"gene": [{"text": "PARK16", "start": 4, "end": 10}], "disease": [{"text": "sporadic", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We present a novel technique for estimating breast density based on 3D T1-weighted Magnetic Resonance Imaging (MRI) and evaluate its performance, including for breast cancer risk prediction, relative to two standard mammographic density-estimation methods.", "output": {"entities": {"gene": [{"text": "MRI", "start": 111, "end": 114}], "disease": [{"text": "breast cancer", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the overexpression of wild-type peripherin, a type of IF gene upregulated by inflammatory cytokines, provoked the formation of toxic IF inclusions with the high-molecular-weight NF proteins resulting in the death of motor neurons during aging.", "output": {"entities": {"gene": [{"text": "peripherin", "start": 45, "end": 55}], "disease": [{"text": "weight", "start": 184, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "As a consequence of the translocation, a normal-sized BCL2 transcript was overexpressed in tumor cells.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 54, "end": 58}], "disease": [{"text": "translocation", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We examined MC1R and ASIP genotypes in relation to phenotypic characteristics, sporadic and familial melanoma risk, and melanoma thickness as an indicator of disease progression in a Mediterranean population.", "output": {"entities": {"gene": [{"text": "ASIP", "start": 21, "end": 25}], "disease": [{"text": "sporadic", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "An echocardiographic study of the families of patients with primary carnitine deficiency revealed that the heterozygotes for OCTN2 mutations were predisposed to late onset benign cardiac hypertrophy (odds ratio 15. 1, 95% CI 1. 39-164) compared with the wild-types.", "output": {"entities": {"gene": [{"text": "OCTN2", "start": 125, "end": 130}], "disease": [{"text": "carnitine deficiency", "start": 68, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCTN2", "start": 125, "end": 130}, "tail": {"text": "carnitine deficiency", "start": 68, "end": 88}}]}}, "schema": []}
{"input": "Using dual in situ hybridization as a new tool to detect BCL2 translocation and amplification, we observed similar results as previously reported for fluorescence in situ hybridization for translocation but a higher amplification frequency, indicating that BCL2 amplification may be underreported in DLBCL.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 57, "end": 61}], "disease": [{"text": "translocation", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "DNA from 14 follicular and 42 diffuse B-cell lymphomas was examined using oligonucleotide primers specific for opposing sides of the IgH gene rearrangement on chromosome 14 (towards conserved VH and JH sequences) and opposing sides of the t (14; 18) chromosomal translocation (towards the major breakpoint region of the bcl-2 gene on chromosome 18 and conserved JH sequence on chromosome 14).", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 320, "end": 330}], "disease": [{"text": "chromosomal translocation", "start": 250, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "In vivo, TFPI-2 expression was found to be upregulated 5, 10, and 20 hours (P <. 01) after rat carotid balloon injury, and immunohistochemistry demonstrated TFPI-2 protein in FSS-exposed luminal SMCs, co-localized with caspase-3 in the rat carotid neointima.", "output": {"entities": {"gene": [{"text": "TFPI-2", "start": 9, "end": 15}], "disease": [{"text": "neointima", "start": 248, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, MRG15-deficient cells, similarly to cells deficient in PALB2 or BRCA2, showed reduced efficiency for homology-directed DNA repair and hypersensitivity to DNA interstrand crosslinking agents.", "output": {"entities": {"gene": [{"text": "MRG15", "start": 15, "end": 20}], "disease": [{"text": "hypersensitivity", "start": 149, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Hemoglobin (Hb) electrophoresis was performed in cases with mean corpuscular volume (MCV) < 76 fl, mean corpuscular Hb (MCH) < 27 pg.", "output": {"entities": {"gene": [{"text": "MCH", "start": 120, "end": 123}], "disease": [{"text": "mean corpuscular volume", "start": 60, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "PD-1 expression during AIM directly correlated with viral load and with the subsequent degree of CD8 + T cell contraction in convalescence.", "output": {"entities": {"gene": [{"text": "AIM", "start": 23, "end": 26}], "disease": [{"text": "viral load", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We speculate that the biological consequences of the mutant PDGFB allele contributed to the unique disease phenotype of the translocation patient.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 60, "end": 65}], "disease": [{"text": "translocation", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "MIF was abundantly expressed in the non-invasive breast cancer cell lines MDA-MB-468 and ZR-75-1, but not in invasive MDA-MB-231 cells, which in turn expressed higher levels of the MIF-receptor CD74.", "output": {"entities": {"gene": [{"text": "CD74", "start": 194, "end": 198}], "disease": [{"text": "breast cancer", "start": 49, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD74", "start": 194, "end": 198}, "tail": {"text": "breast cancer", "start": 49, "end": 62}}]}}, "schema": []}
{"input": "Gene expression of NLRP3, CASPASE-1, CD3 & #603; (pan T cells), TBX21 (T (h) 1 cells) and RORC (T (h) 17 cells) was positively, whereas GATA3 (T (h) 2 cells) was inversely correlated with AT inflammation.", "output": {"entities": {"gene": [{"text": "RORC", "start": 90, "end": 94}], "disease": [{"text": "inflammation", "start": 191, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RORC", "start": 90, "end": 94}, "tail": {"text": "inflammation", "start": 191, "end": 203}}]}}, "schema": []}
{"input": "Apelin, a small peptide present in a number of tissues and also produced and secreted by adipocytes, has emerged as a new player with potent functions in energy metabolism, and in insulin sensitivity improvement.", "output": {"entities": {"gene": [{"text": "Apelin", "start": 0, "end": 6}], "disease": [{"text": "insulin sensitivity", "start": 180, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Monocytes produced NE constitutively, with little regulation by cytokines IL-1beta, TNF-alpha, or IFN-gamma but released it when stimulated by CD40 ligand, a cytokine found in atheroma.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 84, "end": 93}], "disease": [{"text": "atheroma", "start": 176, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "We report a girl with confirmed LAMB2 mutation who presented with early onset Congenital Nephrotic Syndrome (CNS) with renal failure and ocular findings of bilateral microcoria, persistent hyperplastic primary vitreous, right microphtalmia and left eye cataract.", "output": {"entities": {"gene": [{"text": "LAMB2", "start": 32, "end": 37}], "disease": [{"text": "persistent hyperplastic primary vitreous", "start": 178, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "We thus concluded that risk genetic variants at FTO gene can accelerate the onset age and influence the survival odds of overweight in younger adults.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 48, "end": 56}], "disease": [{"text": "overweight", "start": 121, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "As VEGF can substitute for M-CSF to support osteoclastogenesis in the presence of receptor activator for nuclear factor kappaB ligand (RANKL), we assessed the effect of MG-63 hypoxic conditioned media on osteoclast differentiation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 3, "end": 7}], "disease": [{"text": "hypoxic", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The enhanced proteinuria, score of mesangial proliferation, glomerular PCNA positive cells, activities of phosphorylated PI3-K, Akt1 and STAT3, and reduced p27 (kip1) expression were found on day 4 after nephritis induction.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 71, "end": 75}], "disease": [{"text": "nephritis", "start": 204, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "We elucidated the mechanism by which netrin-1 released under hypoxic stress can induce epithelial-mesenchymal transition (EMT) to promote invasion in hepatocellular carcinoma (HCC) cells.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 37, "end": 45}], "disease": [{"text": "hypoxic", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Chronic oxidative stress modulates TRPC3 and TRPM2 channel expression and function in rat primary cortical neurons: relevance to the pathophysiology of bipolar disorder.", "output": {"entities": {"gene": [{"text": "TRPC3", "start": 35, "end": 40}], "disease": [{"text": "bipolar disorder", "start": 152, "end": 168}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPC3", "start": 35, "end": 40}, "tail": {"text": "bipolar disorder", "start": 152, "end": 168}}]}}, "schema": []}
{"input": "This complex analysis shows the important role of PAX9 and MSX1 SNPs and of their interactions in tooth agenesis, while IRF6, FGFR1 and AXIN2 SNPs had no detectable role in the Hungarian population.", "output": {"entities": {"gene": [{"text": "IRF6", "start": 120, "end": 124}], "disease": [{"text": "tooth agenesis", "start": 98, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Gender-specific genetic associations of polymorphisms in ACE, AKR1C2, FTO and MMP2 with weight gain over a 10-year period.", "output": {"entities": {"gene": [{"text": "AKR1C2", "start": 62, "end": 68}], "disease": [{"text": "weight gain", "start": 88, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKR1C2", "start": 62, "end": 68}, "tail": {"text": "weight gain", "start": 88, "end": 99}}]}}, "schema": []}
{"input": "Autotaxin is the enzyme responsible for the production of lysophosphatidic acid (LPA) from lysophosphatidyl choline (LPC), and it is up-regulated in many inflammatory conditions, including but not limited to cancer, arthritis, and multiple sclerosis.", "output": {"entities": {"gene": [{"text": "LPC", "start": 117, "end": 120}], "disease": [{"text": "multiple sclerosis", "start": 231, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "Therefore, although induction of cardiac hypertrophy is a multifaceted process, inhibition of Shp2 activity through AKAP-Lbc-anchored PKA is a previously unrecognized mechanism that may promote this compensatory response.", "output": {"entities": {"gene": [{"text": "AKAP-Lbc", "start": 116, "end": 124}], "disease": [{"text": "cardiac hypertrophy", "start": 33, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The LEPR gene Gln223Arg polymorphism has been associated with energy metabolism and body weight.", "output": {"entities": {"gene": [{"text": "LEPR gene", "start": 4, "end": 13}], "disease": [{"text": "body weight", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We confirmed the underediting at the Q/R site of GluR-B mRNA in the glioma cell lines U87, U251 and A172 compared with that in normal human astrocytes (NHAs) HA1800.", "output": {"entities": {"gene": [{"text": "U87", "start": 86, "end": 89}], "disease": [{"text": "glioma", "start": 68, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In this connection, gentisate seems to play a major role in ASA-induced hemolysis for it is both a G-6-PD inhibitor and an \" oxidant. \"", "output": {"entities": {"gene": [{"text": "G-6-PD", "start": 99, "end": 105}], "disease": [{"text": "hemolysis", "start": 72, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "G-6-PD", "start": 99, "end": 105}, "tail": {"text": "hemolysis", "start": 72, "end": 81}}]}}, "schema": []}
{"input": "We investigated the phenotype of cells expressing messenger RNA encoding interleukin 4 (IL-4), IL-5, IL-2, and interferon gamma (IFN-gamma) in bronchoalveolar lavage (BAL) and bronchial biopsies (BX) from seven mild atopic asthmatic patients and nine nonasthmatic controls.", "output": {"entities": {"gene": [{"text": "interferon gamma", "start": 111, "end": 127}], "disease": [{"text": "mild", "start": 211, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "We examined three patients with APAs showing clear autonomous secretion of cortisol who possessed a 1 mg dexamethasone suppression test (DST) with a failure of the serum cortisol level to drop below 3. 0 μg/dL, a morning plasma ACTH level of less than 10 pg/mL, and suppressed accumulation in the intact adrenal on (131) I-adosterol scintigraphy, or postoperative adrenal insufficiency.", "output": {"entities": {"gene": [{"text": "DST", "start": 137, "end": 140}], "disease": [{"text": "adrenal insufficiency", "start": 364, "end": 385}]}, "relations": {}}, "schema": []}
{"input": "Localization and hypoxic induction of vascular endothelial growth factor (VEGF) was examined in the spinal cord of transgenic mice carrying a mutation in the superoxide dismutase 1 gene.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 74, "end": 78}], "disease": [{"text": "hypoxic", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The findings demonstrate the modelling of B-cell lymphoma bearing the t (14; 18) translocation and the ability to modify the lymphoma process with the use of antisense oligonucleotides to the BCL-2 gene.", "output": {"entities": {"gene": [{"text": "BCL-2 gene", "start": 192, "end": 202}], "disease": [{"text": "translocation", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The results showed that adenovirus expressing VHL led to a significant reduction in VEGF expression in vitro under normoxic or hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 84, "end": 88}], "disease": [{"text": "hypoxic", "start": 127, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We identified CDC91L1, the gene encoding CDC91L1 (also called phosphatidylinositol glycan class U (PIG-U), a transamidase complex unit in the glycosylphosphatidylinositol (GPI) anchoring pathway), as the only gene whose expression was affected by the translocation.", "output": {"entities": {"gene": [{"text": "GPI", "start": 172, "end": 175}], "disease": [{"text": "translocation", "start": 251, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "To investigate the genetic determinants for microalbuminuria, we studied an insertion (I)/deletion (D) polymorphism of the angiotensin-converting enzyme (ACE) gene, which influences the plasma ACE level, in 333 consecutive hypertensive patients and 113 normotensive control subjects.", "output": {"entities": {"gene": [{"text": "ACE", "start": 154, "end": 157}], "disease": [{"text": "microalbuminuria", "start": 44, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.", "output": {"entities": {"gene": [{"text": "SDR9C7", "start": 31, "end": 37}], "disease": [{"text": "congenital ichthyosis", "start": 79, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDR9C7", "start": 31, "end": 37}, "tail": {"text": "congenital ichthyosis", "start": 79, "end": 100}}]}}, "schema": []}
{"input": "VEGF control is by diffusion of isoforms, hypoxic conditions, and bone (mandibular) positioning.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Finally, we evaluated the role of L1CAM on tumorigenesis with ATC xenograft assay in a nude mouse model.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 34, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.", "output": {"entities": {"gene": [{"text": "SLC6A13", "start": 99, "end": 106}], "disease": [{"text": "major depression", "start": 51, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC6A13", "start": 99, "end": 106}, "tail": {"text": "major depression", "start": 51, "end": 67}}]}}, "schema": []}
{"input": "These studies suggest that multiple noncoding elements contribute to the craniofacial regulation of SOX9 expression, and that their disruption results in PRS.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 100, "end": 104}], "disease": [{"text": "PRS", "start": 154, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 100, "end": 104}, "tail": {"text": "PRS", "start": 154, "end": 157}}]}}, "schema": []}
{"input": "ZNF41 maps to a 440-kb YAC spanning this region, while a more proximal cluster comprising the ZNF21 and ZNF81 genes lies 150 kb distal to the chromosome breakpoint associated with synovial sarcoma.", "output": {"entities": {"gene": [{"text": "ZNF81", "start": 104, "end": 109}], "disease": [{"text": "synovial sarcoma", "start": 180, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "There were 1. 9-and 10. 0-fold decreased expression of STAR and CYP11A1, respectively, in EC versus adjacent control endometrium, with no significant differences in the expression of HSD3B1 and HSD3B2.", "output": {"entities": {"gene": [{"text": "STAR", "start": 55, "end": 59}], "disease": [{"text": "EC", "start": 90, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAR", "start": 55, "end": 59}, "tail": {"text": "EC", "start": 90, "end": 92}}]}}, "schema": []}
{"input": "Almost all CCPRCC-like tumors (82%) lacked the characteristic immunoprofile of sporadic CCPRCC (CK7, CAIX, CD10, AMACR), often showing diffuse CD10 labeling (64%), negative or focal CK7 reactivity (55%), or both (18%).", "output": {"entities": {"gene": [{"text": "CK7", "start": 96, "end": 99}], "disease": [{"text": "sporadic", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Human follicular B-cell lymphoma is associated with the t (14; 18) chromosomal translocation that juxtaposes the Bcl2 proto-oncogene with the immunoglobulin heavy chain (Igh) locus, resulting in the deregulated expression of Bcl2.", "output": {"entities": {"gene": [{"text": "Bcl2", "start": 113, "end": 117}], "disease": [{"text": "chromosomal translocation", "start": 67, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal imbalances were assessed by comparative genomic hybridization (CGH) and mismatch repair (MMR) deficiency tested for through assessment of microsatellite instability (MSI) and expression of MLH1 and MSH2 genes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 101, "end": 104}], "disease": [{"text": "microsatellite instability", "start": 150, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and' mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.", "output": {"entities": {"gene": [{"text": "EIF2AK3", "start": 57, "end": 64}], "disease": [{"text": "abnormalities", "start": 196, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that structural MR imaging of the SCP can provide a surrogate marker of disease severity in FRDA and support the potential role of structural MRI as a biomarker in the evaluation of neurodegenerative diseases and therapies.", "output": {"entities": {"gene": [{"text": "SCP", "start": 57, "end": 60}], "disease": [{"text": "neurodegenerative diseases", "start": 205, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Endometrial stromal sarcomas (ESSs) are rare neoplasms, which are currently treated by surgery, whereas effective adjuvant therapies have not yet been established.", "output": {"entities": {"gene": [{"text": "ESSs", "start": 30, "end": 34}], "disease": [{"text": "neoplasms", "start": 45, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The amount of the bcl-2 protein and mRNA in the cell lines with t (14; 18) was in the same order of magnitude as in other bcl-2 expressing cell lines of the same lineage, but without the translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 18, "end": 23}], "disease": [{"text": "translocation", "start": 187, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "For the health examination subjects, circulating YKL-40 level, but not CHI3L1 gene variants, were positively associated with age, smoking, and circulating levels of triglyceride, lipocalin 2 and multiple inflammatory biomarkers and negatively associated with low-density-lipoprotein cholesterol levels.", "output": {"entities": {"gene": [{"text": "lipocalin 2", "start": 179, "end": 190}], "disease": [{"text": "smoking", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Most of the PH1 alleles detected in the Canary Islands carry the Ile-244--& gt; Thr (I244T) mutation in the AGXT gene, with 14 of 16 patients homozygous for this mutation.", "output": {"entities": {"gene": [{"text": "AGXT", "start": 108, "end": 112}], "disease": [{"text": "PH1", "start": 12, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGXT", "start": 108, "end": 112}, "tail": {"text": "PH1", "start": 12, "end": 15}}]}}, "schema": []}
{"input": "Mutations in genes related to malignancy not previously associated with thyroid tumorigenesis were observed, including mTOR, NF1, NF2, MLH1, MLH3, MSH5, MSH6, ERBB2, EIF1AX and USH2A; some of which were recurrent and were investigated in 24 additional ATC cases and 8 ATC cell lines.", "output": {"entities": {"gene": [{"text": "MLH3", "start": 141, "end": 145}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "JP-8 exposure in a rat lung alveolar type II epithelial cell line (RLE-6TN) induces biochemical and morphological markers of apoptotic cell death: caspase-3 activation, poly (ADP-ribose) polymerase (PARP) cleavage, chromatin condensation, membrane blebbing, cytochrome c release from mitochondria, and genomic DNA cleavage into both oligonucleosomal (DNA ladder) and high-molecular-weight (HMW) fragments.", "output": {"entities": {"gene": [{"text": "PARP", "start": 199, "end": 203}], "disease": [{"text": "weight", "start": 382, "end": 388}]}, "relations": {}}, "schema": []}
{"input": "In predefined secondary meta-analyses of individual data, interleukin-27 subunit α, growth/differentiation factor 15, urokinase plasminogen activator surface receptor, tumor necrosis factor receptor superfamily member 6, macrophage colony-stimulating factor 1, and matrix metalloproteinase-7 were also potential risk markers for ischemic stroke after adjustment for multiple comparisons (P < 0. 0006).", "output": {"entities": {"gene": [{"text": "urokinase plasminogen activator surface receptor", "start": 118, "end": 166}], "disease": [{"text": "ischemic stroke", "start": 329, "end": 344}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that cPLA2 plays an important role in supplying arachidonic acid to the COX-2 driven inflammatory pathway in ALS associated with SOD1 mutations.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 94, "end": 99}], "disease": [{"text": "ALS", "start": 131, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 94, "end": 99}, "tail": {"text": "ALS", "start": 131, "end": 134}}]}}, "schema": []}
{"input": "To determine whether cytokines are generated in vivo in subjects with asthma, we have measured cytokine levels (tumor necrosis factor [TNF], granulocyte-macrophage-colony-stimulating factor [GM-CSF], interleukin [IL]-1 alpha, IL-1 beta, IL-2, IL-4, and IL-6) in the airways of subjects with symptomatic (N = 24) and asymptomatic (N = 9) asthma with immunoassays (GM-CSF, IL-1 alpha, IL-1 beta, IL-2, and IL-4) or bioassays (TNF and IL-6) and the polymerase chain reaction (IL-1 beta and TNF).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 253, "end": 257}], "disease": [{"text": "asymptomatic", "start": 316, "end": 328}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we have shown that CYP26A1 induction is not essential for the granulocytic maturation of NB4 leukemia cells, and that CYP26A1 induction requires the activation of both RARalpha and RXR in these cells.", "output": {"entities": {"gene": [{"text": "CYP26A1", "start": 34, "end": 41}], "disease": [{"text": "leukemia", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that the dysregulation of RAS was involved in suicide, and examined the association between completed suicides and four functional polymorphisms of RAS-related genes: the angiotensinogen M235T, angiotensin-converting enzyme (ACE) insertion (I)/deletion (D), angiotensin type-1 receptor A1166C, and G-protein-beta3 C825T gene polymorphisms.", "output": {"entities": {"gene": [{"text": "beta3", "start": 324, "end": 329}], "disease": [{"text": "suicide", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Fgfr2 (S252W/+) mutant mice were established, and their general characteristics, including weight, naso-anal length, and calcium and phosphate content in serum and bone were tested.", "output": {"entities": {"gene": [{"text": "Fgfr2", "start": 0, "end": 5}], "disease": [{"text": "weight", "start": 91, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The expression of CXCR4 mRNA and protein in three glioma cell lines, U87-MG, SHG-44, and CHG-5, was determined by RT-PCR and immunocytochemistry, respectively.", "output": {"entities": {"gene": [{"text": "U87", "start": 69, "end": 72}], "disease": [{"text": "glioma", "start": 50, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Here, we identify gain-of-function mutations in the cytoplasmic domain of STIM1 (p. R304W) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with Stormorken syndrome, and in ORAI1 (p. P245L), associated with a Stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities.", "output": {"entities": {"gene": [{"text": "ORAI1", "start": 219, "end": 224}], "disease": [{"text": "tubular aggregate myopathy", "start": 305, "end": 331}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ORAI1", "start": 219, "end": 224}, "tail": {"text": "tubular aggregate myopathy", "start": 305, "end": 331}}]}}, "schema": []}
{"input": "The level of Wnt3a expression in HCC patients was obviously higher (P < 0. 001) than that in any group of cases with benign liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 33, "end": 36}], "disease": [{"text": "liver diseases", "start": 124, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Phosphorylated NF-κB (p65) and SP1 protein expression were significantly increased in leiomyoma.", "output": {"entities": {"gene": [{"text": "p65", "start": 22, "end": 25}], "disease": [{"text": "leiomyoma", "start": 86, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We found that the murine IgH 3' enhancers increased bcl-2 P2 promoter activity in an episomal model of the translocation, and IgH enhancer region HS12 had the greatest effect.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 52, "end": 57}], "disease": [{"text": "translocation", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "While control and TLR4 KO mice demonstrated prominent muscle regeneration, both TLR2 KO and TRIF KO mice exhibited marked necrosis with significant inflammatory cell infiltrate.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 18, "end": 22}], "disease": [{"text": "necrosis", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "However, lack of TSC2 resulted in a survival advantage when cells were exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Our results identify defects in SLC25A1 as a cause of combined D-2-and L-2-hydroxyglutaric aciduria.", "output": {"entities": {"gene": [{"text": "SLC25A1", "start": 32, "end": 39}], "disease": [{"text": "combined D-2-and L-2-hydroxyglutaric aciduria", "start": 54, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC25A1", "start": 32, "end": 39}, "tail": {"text": "combined D-2-and L-2-hydroxyglutaric aciduria", "start": 54, "end": 99}}]}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "TMEM30B", "start": 284, "end": 291}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TMEM30B", "start": 284, "end": 291}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "A literature review reports increased erythrocyte indices [hemoglobin concentration, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin (MCH), MCH concentration] in subjects with hereditary hemochromatosis (HH).", "output": {"entities": {"gene": [{"text": "MCH", "start": 151, "end": 154}], "disease": [{"text": "mean corpuscular volume", "start": 97, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to investigate the role of the cytoskeleton-associated protein vasodilator-stimulated phosphoprotein (VASP) on the migration and invasion of human breast cancer cells and its relationship to Rac1 which is a member of the Rho family and has been found to be implicated in tumorigenesis, invasion and metastasis.", "output": {"entities": {"gene": [{"text": "VASP", "start": 119, "end": 123}], "disease": [{"text": "tumorigenesis", "start": 288, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "In addition, we observed several putative transcription factor binding sites in the TSP-1 promoter, including those for AP-1 (activator protein-1), CREB (cAMP response element binding protein), NF-kappaB (nuclear factor-kappaB), SRF (serum response factor) and HSF (heat-shock factor), by sequence mapping.", "output": {"entities": {"gene": [{"text": "serum response factor", "start": 234, "end": 255}], "disease": [{"text": "shock", "start": 271, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "TDP-43-expressing cells displayed markedly increased markers of oxidative stress, apoptosis, and necrosis.", "output": {"entities": {"gene": [{"text": "TDP-43", "start": 0, "end": 6}], "disease": [{"text": "necrosis", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we further elucidate the expression patterns of ORPT and DPD and their clinicopathological significance by immunohistochemical analysis in 221 and RT-PCR in 36 gastric cancer samples.", "output": {"entities": {"gene": [{"text": "DPD", "start": 79, "end": 82}], "disease": [{"text": "gastric cancer", "start": 182, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPD", "start": 79, "end": 82}, "tail": {"text": "gastric cancer", "start": 182, "end": 196}}]}}, "schema": []}
{"input": "It is characterized by a polyclonal expansion of B cells, including typical binucleated lymphocytes, and is associated with the presence of the translocation t (14; 18), involving the bcl-2 oncogene.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 184, "end": 189}], "disease": [{"text": "translocation", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "To characterize the molecular features of undifferentiated-type gastric carcinomas that developed as undifferentiated-type, we examined for p53, APC, and epithelial (E)-cadherin gene mutations, microsatellite alterations including loss of heterozygosity (LOH) and microsatellite instability (MSI), and hypermethylation of the E-cadherin gene promoter in 26 early undifferentiated gastric carcinomas, consisting of 14 signet-ring cell carcinomas and 12 poorly differentiated adenocarcinomas.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 326, "end": 336}], "disease": [{"text": "microsatellite instability", "start": 264, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "Although based on limited initial data, this is the first report of a positive association between maternal alcohol consumption during pregnancy and HPRT Mf in human newborns.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 149, "end": 153}], "disease": [{"text": "alcohol consumption during pregnancy", "start": 108, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HPRT", "start": 149, "end": 153}, "tail": {"text": "alcohol consumption during pregnancy", "start": 108, "end": 144}}]}}, "schema": []}
{"input": "CD36 (also known as GPIV) deficiency is known to be responsible for the production of anti-Nak (a) antibodies in different clinical settings such as fetal/neonatal alloimmune thrombocytopenia (FNAIT), platelet transfusion refractoriness (PTR) and post-transfusion purpura (PTP).", "output": {"entities": {"gene": [{"text": "GPIV", "start": 20, "end": 24}], "disease": [{"text": "purpura", "start": 264, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "The difference was statistically significant and did not correlate with smoking, age, CD4 T-cell counts, HIV viral load or levels of dental plaque.", "output": {"entities": {"gene": [{"text": "CD4", "start": 86, "end": 89}], "disease": [{"text": "dental plaque", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "This article highlights a case of a child with severe arterial thrombosis who was heterozygous for the factor V Leiden (FVL) and prothrombin G20210A mutations.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 103, "end": 118}], "disease": [{"text": "arterial thrombosis", "start": 54, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "To elucidate which subpopulations of women with adverse reproductive outcomes should be screened for NLRP7/C6orf221 variants, we sequenced coding sequence and exon/intron boundaries of NLRP7 and C6orf221 in a well-defined group of 17 women with recurrent miscarriage and additional triploidy or complete hydatidiform moles.", "output": {"entities": {"gene": [{"text": "NLRP7", "start": 101, "end": 106}], "disease": [{"text": "recurrent miscarriage", "start": 245, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "CGRP infusion did not induce aura symptoms in any of the participants.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 0, "end": 4}], "disease": [{"text": "aura", "start": 29, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "All ARB mutants investigated produced significantly smaller chloride currents compared to wild-type bestrophin-1.", "output": {"entities": {"gene": [{"text": "bestrophin-1", "start": 100, "end": 112}], "disease": [{"text": "ARB", "start": 4, "end": 7}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "bestrophin-1", "start": 100, "end": 112}, "tail": {"text": "ARB", "start": 4, "end": 7}}]}}, "schema": []}
{"input": "Aldosterone-producing adenoma (APA) is a major cause of primary aldosteronism, leading to secondary hypertension.", "output": {"entities": {"gene": [{"text": "APA", "start": 31, "end": 34}], "disease": [{"text": "secondary hypertension", "start": 90, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that ENH contributes to differentiation of the nervous system through cytoplasmic sequestration of Id2.", "output": {"entities": {"gene": [{"text": "ENH", "start": 25, "end": 28}], "disease": [{"text": "nervous system", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We found the transcript levels of GABA (A) receptor beta 2 (GABRB2) and post-synaptic density-95 (PSD-95) to be significantly decreased in the ACC in mood disorder.", "output": {"entities": {"gene": [{"text": "PSD-95", "start": 98, "end": 104}], "disease": [{"text": "mood disorder", "start": 150, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD-95", "start": 98, "end": 104}, "tail": {"text": "mood disorder", "start": 150, "end": 163}}]}}, "schema": []}
{"input": "The life-table method of Kaplan-Meier used to define the cardiac arrest-free interval in patients undergoing PES failed to demonstrate an association between PES inducibility and spontaneous occurrence of ventricular fibrillation.", "output": {"entities": {"gene": [{"text": "PES", "start": 109, "end": 112}], "disease": [{"text": "ventricular fibrillation", "start": 205, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of HSP70-1 (the inducible isoform) is known to reduce the risk of myocardial cell damage during open-heart surgery and seems to be protective against ischemia.", "output": {"entities": {"gene": [{"text": "HSP70-1", "start": 17, "end": 24}], "disease": [{"text": "ischemia", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Gene symbol: AGXT. Disease: primary hyperoxaluria type I.", "output": {"entities": {"gene": [{"text": "AGXT", "start": 13, "end": 17}], "disease": [{"text": "primary hyperoxaluria type I", "start": 28, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGXT", "start": 13, "end": 17}, "tail": {"text": "primary hyperoxaluria type I", "start": 28, "end": 56}}]}}, "schema": []}
{"input": "The efficacy prediction of conventional IFN mono-therapy was 100% for non-responder (NR) vs. transient responder (TR)/sustained responder (SR) (P < 0. 0005).", "output": {"entities": {"gene": [{"text": "IFN", "start": 40, "end": 43}], "disease": [{"text": "mono", "start": 44, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Methylation status of GATA-4 and GATA-5 CpG islands in human gastric mucosa samples, including normal gastric biopsies from 45 outpatients, gastric dysplasia [low-grade gastric intraepithelial neoplasia (GIN), n = 30; indefinite, n = 77], and 80 paired sporadic gastric carcinomas (SGC) as well as the adjacent non-neoplastic gastric tissues was analyzed by methylation specific polymerase chain reaction (MSP) and confirmed by denatured high performance liquid chromatography (DHPLC).", "output": {"entities": {"gene": [{"text": "GATA", "start": 22, "end": 26}], "disease": [{"text": "sporadic", "start": 253, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "High levels of ODC and polyamines are associated with numerous types of neoplastic transformation, and the genomic region including AZI is frequently amplified in tumors of the ovary and prostate.", "output": {"entities": {"gene": [{"text": "ODC", "start": 15, "end": 18}], "disease": [{"text": "neoplastic transformation", "start": 72, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Using a tagging approach, we tested the hypothesis that common polymorphisms in the transporter genes ABCB1, ABCC2, ABCG2 and the regulator gene NR1I2 could be implicated in lymphoma risk.", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 116, "end": 121}], "disease": [{"text": "lymphoma", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) is crucial for tumor progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 55, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We examined the effect of culturing bone-targeted, metastatic C4-2B prostate cancer cells and bone stromal derived HS27a cells under hypoxic conditions on expression of vascular endothelial growth factor (VEGF) family members.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 205, "end": 209}], "disease": [{"text": "hypoxic", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "This study investigates the effect of the polymorphisms of-204G/C and 159C/T in the NEP gene on the development of sporadic Alzheimer' s disease (SAD) in a southern Chinese community.", "output": {"entities": {"gene": [{"text": "NEP", "start": 84, "end": 87}], "disease": [{"text": "sporadic", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that CRF receptor antagonists may be useful for the treatment of the disease states where CRF is elevated such as anxiety and depression, anorexia nervosa and stroke and that ligand inhibitors of CRF-BP may be used to elevate brain levels of' free' urocortin and other CRF-related peptides.", "output": {"entities": {"gene": [{"text": "urocortin", "start": 269, "end": 278}], "disease": [{"text": "depression", "start": 146, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "urocortin", "start": 269, "end": 278}, "tail": {"text": "depression", "start": 146, "end": 156}}]}}, "schema": []}
{"input": "It is most likely that loss of function of MUTYH in stem or progenitor cells in the intestinal epithelium of MUTYH-associated polyposis patients results in escape from programmed cell death; however, accumulated 8-oxoguanine causes various mutations in APC or KRAS genes in these proliferative cells, thereby promoting tumorigenesis.", "output": {"entities": {"gene": [{"text": "MUTYH", "start": 43, "end": 48}], "disease": [{"text": "tumorigenesis", "start": 319, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "We tested here the cognitive reserve hypothesis in patients with frontotemporal dementia (FTD), with or without pathogenetic granulin mutations (GRN + and GRN-), and in presymptomatic GRN mutation carriers (aGRN +).", "output": {"entities": {"gene": [{"text": "aGRN", "start": 207, "end": 211}], "disease": [{"text": "frontotemporal dementia", "start": 65, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Consistent with the human phenotype, bone histomorphometric and muCT analyses of Rxfp2 (-/-) mice showed decreased bone mass, mineralizing surface, bone formation, and osteoclast surface compared with wildtype littermates.", "output": {"entities": {"gene": [{"text": "Rxfp2", "start": 81, "end": 86}], "disease": [{"text": "bone mass", "start": 115, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "High claudin-4 expression was also associated with worse breast cancer-specific survival (p = 0. 003), recurrence-free survival (p = 0. 025) and overall survival (p = 0. 034).", "output": {"entities": {"gene": [{"text": "claudin-4", "start": 5, "end": 14}], "disease": [{"text": "breast cancer", "start": 57, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "claudin-4", "start": 5, "end": 14}, "tail": {"text": "breast cancer", "start": 57, "end": 70}}]}}, "schema": []}
{"input": "A novel coexpression and integrated pathway network analysis indicated Prkaa2, Pdk2, Rhoj, and Sgcb are likely to play a central role in the pathophysiology of murine progressive cardiomyopathy in C3H/HeJ mice.", "output": {"entities": {"gene": [{"text": "Prkaa2", "start": 71, "end": 77}], "disease": [{"text": "cardiomyopathy", "start": 179, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Prkaa2", "start": 71, "end": 77}, "tail": {"text": "cardiomyopathy", "start": 179, "end": 193}}]}}, "schema": []}
{"input": "Transfection of PLCB3 to neuroendocrine cell lines lacking expression suppresses the neoplastic phenotype and affects the gene expression of S100A3 and human mismatch repair protein, suggesting a role for PLCB3 in neuroendocrine tumorigenesis.", "output": {"entities": {"gene": [{"text": "PLCB3", "start": 16, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 229, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "In this study, protein and mRNA expression of MARCKS as well as phosphorylation of MARCKS were determined in the prefrontal cortex (PFC) and hippocampus of postmortem brain obtained from suicide victims, with or without depression, and normal control subjects.", "output": {"entities": {"gene": [{"text": "MARCKS", "start": 46, "end": 52}], "disease": [{"text": "suicide", "start": 187, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Wistar rats (1-day old) were subjected to hypoxia and the periventricular white matter (corpus callosum) was examined for the mRNA and protein expression of hypoxia-inducible factor-1alpha (HIF-1alpha), endothelial, neuronal and inducible nitric oxide synthase (eNOS, nNOS and iNOS), vascular endothelial growth factor (VEGF) and N-methyl-D-aspartate receptor subunit 1 (NMDAR1) between 3 h and 14 days after hypoxic exposure by real-time RT-PCR, western blotting and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 320, "end": 324}], "disease": [{"text": "hypoxic", "start": 409, "end": 416}]}, "relations": {}}, "schema": []}
{"input": "It implied that the cooperating activity of N-ras and c-myc might be responsible for the malignant phenotypic alteration in some or most cases in human primary liver cancer.", "output": {"entities": {"gene": [{"text": "N-ras", "start": 44, "end": 49}], "disease": [{"text": "primary liver cancer", "start": 152, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "The probability of detecting HC2-targeted types increased with increasing viral load expressed as the relative light unit/positive-control specimen ratio (RLU/PC) (OR for unitary increase of log RLU/PC, 1. 35; 95% confidence interval [CI], 1. 30 to 1. 42) and with STM versus PreservCyt (OR, 1. 56; 95% CI, 1. 25 to 1. 84).", "output": {"entities": {"gene": [{"text": "HC2", "start": 29, "end": 32}], "disease": [{"text": "viral load", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Patient spinal cord necropsy immunohistochemistry with SOD1 misfolding-specific antibodies revealed misfolded SOD1 in perikarya and motor axons of SOD1-familial ALS (SOD1-FALS), and in motor axons of R521C-FUS FALS and sporadic ALS (SALS) with cytoplasmic TDP43 inclusions.", "output": {"entities": {"gene": [{"text": "FUS", "start": 206, "end": 209}], "disease": [{"text": "sporadic", "start": 219, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "These data provide the first evidence that topotecan is a potent inhibitor of HIF-1alpha and HIF-2alpha subunits in hypoxic neuroblastoma cells, leading to decreased VEGF expression and angiogenic activity.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 166, "end": 170}], "disease": [{"text": "hypoxic", "start": 116, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 42, "end": 46}], "disease": [{"text": "Frontometaphyseal dysplasia", "start": 0, "end": 27}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLNA", "start": 42, "end": 46}, "tail": {"text": "Frontometaphyseal dysplasia", "start": 0, "end": 27}}]}}, "schema": []}
{"input": "In natural human tumors, Ero1-L alpha mRNA was specifically induced in hypoxic microenvironments coinciding with that of upregulated VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 133, "end": 137}], "disease": [{"text": "hypoxic", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson' s disease.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 23, "end": 28}], "disease": [{"text": "Wilson' s disease", "start": 81, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 23, "end": 28}, "tail": {"text": "Wilson' s disease", "start": 81, "end": 98}}]}}, "schema": []}
{"input": "Immediately after ischemia there was a significant induction of both HSP70i genes.", "output": {"entities": {"gene": [{"text": "HSP70i", "start": 69, "end": 75}], "disease": [{"text": "ischemia", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Results showed hypoxia induced not only the increase of IGF-2 and VEGF expression but also the activation of their upstream regulatory genes, HIF-1alpha and Shh.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 66, "end": 70}], "disease": [{"text": "hypoxia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Although these MRI features were suggestive of Rathke' s cleft cyst, cystic craniopharyngioma or previous hemorrhage, no visual symptoms, diabetes insipidus and/or hyperprolactinemia were present.", "output": {"entities": {"gene": [{"text": "MRI", "start": 15, "end": 18}], "disease": [{"text": "craniopharyngioma", "start": 76, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "However, when stained with beta-amyloid precursor protein, multifocal axonal injury was evident in the brain, spinal cord, and nerve roots.", "output": {"entities": {"gene": [{"text": "beta-amyloid precursor protein", "start": 27, "end": 57}], "disease": [{"text": "spinal cord", "start": 110, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-amyloid precursor protein", "start": 27, "end": 57}, "tail": {"text": "spinal cord", "start": 110, "end": 121}}]}}, "schema": []}
{"input": "The sub-cellular distribution studied in the sigma receptor positive human H460 lung cancer cells indicated that LCP-II could release more cargo to the cytoplasm than our previous lipid/protamine/DNA (LPD) formulation, leading to a significant (~ 40 fold in vitro and ~ 4 fold in vivo) improvement in siRNA delivery.", "output": {"entities": {"gene": [{"text": "LPD", "start": 201, "end": 204}], "disease": [{"text": "lung cancer", "start": 80, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "To investigate the clinical, neurophysiological, histopathological, and genetic features in 4 patients with MM from 2 unrelated Chinese families demonstrating linkage to the dysferlin locus.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 174, "end": 183}], "disease": [{"text": "MM", "start": 108, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dysferlin", "start": 174, "end": 183}, "tail": {"text": "MM", "start": 108, "end": 110}}]}}, "schema": []}
{"input": "The well-differentiated colorectal carcinoma cell lines were' hypoxia-resistant' showing unchanged levels of HIF-1 alpha and VEGF under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 125, "end": 129}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We now report a subsequent analysis of HIF2A in a cohort of 75 erythrocytosis patients and identify 4 additional patients with novel heterozygous Met535Val and Gly537Arg mutations.", "output": {"entities": {"gene": [{"text": "HIF2A", "start": 39, "end": 44}], "disease": [{"text": "erythrocytosis", "start": 63, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "No translocation of Bcl-2 or Bcl-2/Delta34 to the cytosolic fraction was detected during apoptosis.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 20, "end": 25}], "disease": [{"text": "translocation", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of focal adhesion kinase correlates with increased lymph node metastasis and poor prognosis in non-small-cell lung cancer.", "output": {"entities": {"gene": [{"text": "focal adhesion kinase", "start": 18, "end": 39}], "disease": [{"text": "lymph node metastasis", "start": 66, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "After hypoxia, VEGF mRNA levels increased 1. 8-fold in stromal cells and 3. 4-fold in glandular epithelial cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 15, "end": 19}], "disease": [{"text": "hypoxia", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "In the present study, three common Japanese polymorphisms of the Fyn gene (-93A/G in the 5'-flanking region, IVS10 + 37T/C in intron 10 and Ex12 + 894T/G in the 3'-untranslated region) were studied in 127 healthy controls and 182 sporadic AD cases using a polymerase chain reaction restriction fragment length polymorphism method.", "output": {"entities": {"gene": [{"text": "Fyn gene", "start": 65, "end": 73}], "disease": [{"text": "sporadic", "start": 230, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "We identified homozygous mutations in KIF14 (NM_014875. 2; c. 263T & gt; A; pLeu88 *, c. 2480_2482delTTG; p. Val827del, and c. 4071G & gt; A; p. Gln1357 =) as the likely cause in 3 MCPH families.", "output": {"entities": {"gene": [{"text": "KIF14", "start": 38, "end": 43}], "disease": [{"text": "MCPH", "start": 181, "end": 185}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIF14", "start": 38, "end": 43}, "tail": {"text": "MCPH", "start": 181, "end": 185}}]}}, "schema": []}
{"input": "Our results indicate that ERK and JNK mediate collagen I expression and scarring of the rabbit ear, and may be considered for specific drug therapy targets for HTSs.", "output": {"entities": {"gene": [{"text": "JNK", "start": 34, "end": 37}], "disease": [{"text": "scarring", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Our findings link NRXN2 disruption to the pathogenesis of ASD for the first time and further strengthen the involvement of NRXN1 in SCZ, supporting the notion of a common genetic mechanism in these disorders.", "output": {"entities": {"gene": [{"text": "NRXN2", "start": 18, "end": 23}], "disease": [{"text": "SCZ", "start": 132, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRXN2", "start": 18, "end": 23}, "tail": {"text": "SCZ", "start": 132, "end": 135}}]}}, "schema": []}
{"input": "These data suggest a model for BRCA1 carcinogenesis in which genomic instability leads to the initiation of cancerous cell clones, while loss of normal restraint on hormonal stimulation of mammary epithelial cell proliferation allows amplification of these pre-existing clones.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 31, "end": 36}], "disease": [{"text": "genomic instability", "start": 61, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The t (8; 21) translocation between two genes known as AML1 and ETO is seen in approximately 12-15% of all acute myeloid leukemia (AML) and is the second-most-frequently observed nonrandom genetic alteration associated with AML.", "output": {"entities": {"gene": [{"text": "AML1", "start": 55, "end": 59}], "disease": [{"text": "translocation", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "This study was therefore performed to elucidate the genetic characteristics of Korean patients with nonsyndromic sensorineural hearing loss and to determine the pathological mechanism of hearing loss by analyzing the intercellular communication function of Cx30 and Cx31 variants.", "output": {"entities": {"gene": [{"text": "Cx31", "start": 266, "end": 270}], "disease": [{"text": "nonsyndromic sensorineural hearing loss", "start": 100, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "MiR-122 as a biomarker also has the potential to bridge results in in vitro experiments to in vivo animal models and human samples using the same assay, and to link findings from clinical studies in determining the relevance of in vitro models being developed for the study of drug-induced liver injury.", "output": {"entities": {"gene": [{"text": "MiR-122", "start": 0, "end": 7}], "disease": [{"text": "drug-induced liver injury", "start": 277, "end": 302}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MiR-122", "start": 0, "end": 7}, "tail": {"text": "drug-induced liver injury", "start": 277, "end": 302}}]}}, "schema": []}
{"input": "Certain chemokines, such as CCL2 and CX3CL1, appear to be crucial in subretinal microglia and macrophage accumulation observed in AMD, and participate in the development of retinal degeneration as well as in choroidal neovascularization.", "output": {"entities": {"gene": [{"text": "CX3CL1", "start": 37, "end": 43}], "disease": [{"text": "retinal degeneration", "start": 173, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We identified two different missense mutations in the CAPN5 gene in three ADNIV kindreds.", "output": {"entities": {"gene": [{"text": "CAPN5", "start": 54, "end": 59}], "disease": [{"text": "ADNIV", "start": 74, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CAPN5", "start": 54, "end": 59}, "tail": {"text": "ADNIV", "start": 74, "end": 79}}]}}, "schema": []}
{"input": "The correlation coefficients between HLA-DQA1 * 0104 and atopy, HLA-DQB1 * 0201 and atopy, and HLA-DQA1 * 0301 and atopy were 0. 813 (P < 0. 01), 0. 289 (P < 0. 01), and-0. 168 (P < 0. 05) respectively.", "output": {"entities": {"gene": [{"text": "HLA-DQB1", "start": 64, "end": 72}], "disease": [{"text": "atopy", "start": 57, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The abundance of the adiponectin receptors, AdipoR1 and AdipoR2, and the effects of the antidiabetic adipokine adiponectin in monocytes of normal-weight and overweight controls and type 2 diabetic patients (T2D) were analyzed.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 56, "end": 63}], "disease": [{"text": "weight", "start": 146, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Furthermore our data suggest that nestin expression can be induced by hypoxia, and that this increase in nestin is partially regulated by HIF-1α and VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 149, "end": 153}], "disease": [{"text": "hypoxia", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The effects of GnRHa on the number of viable cells, expression of proliferating cell nuclear antigen (PCNA), Fas and Fas ligand, and apoptosis in cultured leiomyoma cells were examined by MTT (3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyl tetrasodium bromide) assay, immunocytochemical analysis, Western blot analysis and TUNEL assay respectively.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 117, "end": 127}], "disease": [{"text": "leiomyoma", "start": 155, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to identify defects in the gene of FVIII by a sensitive and simple scanning technique with high throughput in order to study molecular mechanisms by which novel amino acid substitutions may lead to hemophilia A.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 53, "end": 58}], "disease": [{"text": "hemophilia A", "start": 216, "end": 228}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 53, "end": 58}, "tail": {"text": "hemophilia A", "start": 216, "end": 228}}]}}, "schema": []}
{"input": "The DNA damage repair genes, mutY and mutM, prevent G to T mutations caused by reactive oxygen species in Escherichia coli, but it has remained debatable whether deficiencies in their mammalian counterparts, Myh and Ogg1, are directly involved in tumorigenesis.", "output": {"entities": {"gene": [{"text": "Myh", "start": 208, "end": 211}], "disease": [{"text": "tumorigenesis", "start": 247, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "The age-and smoking-adjusted OR for ADH2 A/A relative to G/A and G/G was 1. 60 (95% CI = 1. 08-2. 36), and the adjusted OR for ALDH2 G/G relative to G/A and A/A was 1. 79 (95% CI = 1. 19-2. 69).", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 127, "end": 132}], "disease": [{"text": "smoking", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Neutrophil gelatinase-associated lipocalin (NGAL) and its cell surface receptor, NGALR, have been implicated in tumorigenesis and tumor progression of various human malignant neoplasms.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 44, "end": 48}], "disease": [{"text": "tumorigenesis", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "In addition, the identification of Bcl-xL/Bax as target of protection by alsin and of cytotoxicity by the mutant form provides a new signalling event regulated by alsin protein that may be important to define its role in neuronal physiology and neurodegeneration.", "output": {"entities": {"gene": [{"text": "alsin", "start": 73, "end": 78}], "disease": [{"text": "neurodegeneration", "start": 245, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Recently, signal transducers and activators of transcription 5 (STAT5) has been linked to tumor progression by EMT induction.", "output": {"entities": {"gene": [{"text": "EMT", "start": 111, "end": 114}], "disease": [{"text": "tumor progression", "start": 90, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "These and other data suggest that genes at 18q21. 3, other than BCL2 and FVT1, may be targets for translocation in certain subgroups of B-NHL.", "output": {"entities": {"gene": [{"text": "FVT1", "start": 73, "end": 77}], "disease": [{"text": "translocation", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Significant genes in myeloma plasma cells from patients that were associated with early-onset bortezomib-induced peripheral neuropathy were the enzyme coding genes RHOBTB2 (upregulated by 1 & #183; 59 times; p = 4 & #183; 5 & #215; 10 (-5)), involved in drug-induced apoptosis, CPT1C (1 & #183; 44 times; p = 2 & #183; 9 & #215; 10 (-7)), involved in mitochondrial dysfunction, and SOX8 (1 & #183; 68 times; p = 4 & #183; 28 & #215; 10 (-13)), involved in development of peripheral nervous system.", "output": {"entities": {"gene": [{"text": "CPT1C", "start": 278, "end": 283}], "disease": [{"text": "peripheral neuropathy", "start": 113, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CPT1C", "start": 278, "end": 283}, "tail": {"text": "peripheral neuropathy", "start": 113, "end": 134}}]}}, "schema": []}
{"input": "Our data indicate that, among these genetic factors, factor V Leiden was identified as an important risk factor for arterial thrombosis in this group of patients.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 53, "end": 68}], "disease": [{"text": "arterial thrombosis", "start": 116, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma.", "output": {"entities": {"gene": [{"text": "C11orf95", "start": 89, "end": 97}], "disease": [{"text": "ependymoma", "start": 170, "end": 180}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C11orf95", "start": 89, "end": 97}, "tail": {"text": "ependymoma", "start": 170, "end": 180}}]}}, "schema": []}
{"input": "There were significant differences in cytokine (IL-8, IL-1beta, IL-6, TNF-alpha, IL-12) levels of BAL fluid between patients with PF and healthy controls.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 64, "end": 68}], "disease": [{"text": "PF", "start": 130, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 64, "end": 68}, "tail": {"text": "PF", "start": 130, "end": 132}}]}}, "schema": []}
{"input": "The majority of synovial sarcomas harbor a specific chromosomal translocation in which the proximal portion of the SYT gene at chromosome 18q11 is fused to the distal portion of one of several duplicated SSX genes (most notably SSX1 and SSX2) at chromosome Xp11.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 237, "end": 241}], "disease": [{"text": "chromosomal translocation", "start": 52, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In human astroglial brain tumours, up-regulation of TRF1 and TRF2 occurs in the early stages of carcinogenesis determining telomeres shortening and genomic instability.", "output": {"entities": {"gene": [{"text": "TRF1", "start": 52, "end": 56}], "disease": [{"text": "genomic instability", "start": 148, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "We describe an interesting case-report represented by a patient carrying BRCA1 mutation, recruited for the study \" Multicenter evaluation of Magnetic Resonance Imaging (MRI) in early diagnosis and prevention of breast cancer in high risk population \", diagnosed with breast cancer on the basis of MRI findings but not with conventional mammography and ultrasound (US).", "output": {"entities": {"gene": [{"text": "MRI", "start": 169, "end": 172}], "disease": [{"text": "breast cancer", "start": 211, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Expression of securin was significantly correlated with the extent of aneuploidy but not with basic fibroblast growth factor immunoreactivity or microvessel density.", "output": {"entities": {"gene": [{"text": "securin", "start": 14, "end": 21}], "disease": [{"text": "aneuploidy", "start": 70, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "CYP ω-hydroxylase promotes tumor angiogenesis and metastasis by upregulation of VEGF and MMP-9 via PI3 K and ERK1/2 signaling in human NSCLC cells.", "output": {"entities": {"gene": [{"text": "PI3", "start": 99, "end": 102}], "disease": [{"text": "metastasis", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia inducible factor-1α (HIF-1α) is a crucial microenvironmental factor in tumor progression, which induces the expression of EMT factors.", "output": {"entities": {"gene": [{"text": "EMT", "start": 130, "end": 133}], "disease": [{"text": "tumor progression", "start": 79, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We investigated on parental history and IgE serum level in 2588 consecutive newborns to individuate babies \" at risk \" of atopy at birth and we analysed the polymorphisms of class III region to evaluate the association with immunogenetic markers of HLA: C4A, C4B, LTA, RAGE and TNFA genes; we performed TNF and IgE receptor (FCERB1) physiologically related gene polymorphisms.", "output": {"entities": {"gene": [{"text": "TNF", "start": 278, "end": 281}], "disease": [{"text": "atopy", "start": 122, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "CDP occurs in a variety of genetic disorders associated with skeletal dwarfism and can also be caused by prenatal exposure to warfarin.", "output": {"entities": {"gene": [{"text": "CDP", "start": 0, "end": 3}], "disease": [{"text": "dwarfism", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV.", "output": {"entities": {"gene": [{"text": "mucolipin 1", "start": 53, "end": 64}], "disease": [{"text": "mucolipidosis type IV", "start": 94, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "mucolipin 1", "start": 53, "end": 64}, "tail": {"text": "mucolipidosis type IV", "start": 94, "end": 115}}]}}, "schema": []}
{"input": "Induction of a CD1 antisense gene in a human colon cancer cell line resulted in rapid, concomitant changes in CD1 mRNA and protein, cyclin E, cdk2, cdk4, and cdk6, as well as the ratio of ppRb to pRb.", "output": {"entities": {"gene": [{"text": "CD1", "start": 15, "end": 18}], "disease": [{"text": "colon cancer", "start": 45, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "METHODS: Formalin-fixed, paraffin-processed pancreas samples from patients with type 1 diabetes (T1D), insulinoma, pancreatic ductal adenocarcinoma (PDAC), and normal organ donors were studied by bright-field and multifluorescence immunohistochemistry to examine B7-H4 expression and its colocalization with islet endocrine hormones.", "output": {"entities": {"gene": [{"text": "B7-H4", "start": 263, "end": 268}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 115, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We find that cells infected with the adenoviral-hsp70i construct are rendered tolerant to simulated ischemia as compared to cells infected with a control recombinant adenoviral construct.", "output": {"entities": {"gene": [{"text": "hsp70i", "start": 48, "end": 54}], "disease": [{"text": "ischemia", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and gamma2 subunits of the gamma-aminobutyric acid type-A receptor (GABR).", "output": {"entities": {"gene": [{"text": "beta2", "start": 189, "end": 194}], "disease": [{"text": "alcohol withdrawal", "start": 84, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, serum AGF levels were paradoxically increased in metabolic syndrome, in comparison with data from animal experiments and data on sex, age, and waist circumference.", "output": {"entities": {"gene": [{"text": "AGF", "start": 21, "end": 24}], "disease": [{"text": "waist circumference", "start": 158, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Aflibercept reduced primary VEGF/VEGFR-positive AML colony formation growth in vitro and inhibited AML xenograft growth up to 93% in association with antiangiogenic and antiproliferative effects, hypoxia, and VEGF sequestration in multiple models.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 28, "end": 32}], "disease": [{"text": "hypoxia", "start": 196, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Hereditary nonpolyposis colon cancer (HNPCC) syndrome is characterized by germline mutations in the mismatch repair (MMR) genes and by microsatellite instability (MSI) in component tumors.", "output": {"entities": {"gene": [{"text": "MMR", "start": 117, "end": 120}], "disease": [{"text": "microsatellite instability", "start": 135, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We investigated in this study the potential relationship between the host (human) genetic polymorphisms (glucose-6-phosphate dehydrogenase [G6PD], mannose binding lectin [MBL], tumor necrosis factor alpha [TNFalpha] (-308) and (-238), and nitric oxide synthase 2 [NOS2] (-954)) and the prevalence and profile of asymptomatic P. falciparum infection in 158 Gabonese schoolchildren.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 264, "end": 268}], "disease": [{"text": "asymptomatic", "start": 312, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we described a significant association between eNOS gene polymorphisms and type 2 diabetes, suggesting a new genetic susceptibility factor for hyperinsulinemia, insulin resistance, and type 2 diabetes.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 62, "end": 66}], "disease": [{"text": "insulin resistance", "start": 176, "end": 194}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "eNOS", "start": 62, "end": 66}, "tail": {"text": "insulin resistance", "start": 176, "end": 194}}]}}, "schema": []}
{"input": "In the course of HCV-related chronic liver diseases, chronic inflammation and host genetic/epigenetic alterations additively shift the hepatocytic Smad3 phospho-isoform signaling from tumor suppression to carcinogenesis, increasing the risk of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 244, "end": 247}], "disease": [{"text": "liver diseases", "start": 37, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The predicted amino acid sequence of this tumor-suppressing factor has a significant sequence homology to mouse mammary-derived growth inhibitor and thus was named mammary-derived growth inhibitor-related gene (MRG).", "output": {"entities": {"gene": [{"text": "MRG", "start": 211, "end": 214}], "disease": [{"text": "tumor", "start": 42, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "NF1 microdeletion syndrome is more severe than NF1 caused by gene mutations, with individuals exhibiting facial dysmorphisms, developmental delay (DD), intellectual disability (ID), and excessive neurofibromas.", "output": {"entities": {"gene": [{"text": "NF1", "start": 0, "end": 3}], "disease": [{"text": "NF1 microdeletion syndrome", "start": 0, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 0, "end": 3}, "tail": {"text": "NF1 microdeletion syndrome", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "The 3 tested single nucleotide polymorphisms (SNPs) in TIM 3 were significantly related to atopy and eczema.", "output": {"entities": {"gene": [{"text": "TIM", "start": 55, "end": 58}], "disease": [{"text": "atopy", "start": 91, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The neuroprotective activity of ATM may be negatively regulated by deacetylation since mutations in a protein deacetylase gene, RPD3, suppressed neurodegeneration, and a human homolog of RPD3, histone deacetylase 2, bound ATM and abrogated ATM activation in cell culture.", "output": {"entities": {"gene": [{"text": "histone deacetylase 2", "start": 193, "end": 214}], "disease": [{"text": "neurodegeneration", "start": 145, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that abnormal expression of p63 may be involved in the early phases of laryngeal tumorigenesis irrespective of p53 gene status and that TA-p63 mRNA down-regulation, but not p63 IR, may be clinically relevant in patients with LSCC.", "output": {"entities": {"gene": [{"text": "p63", "start": 48, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.", "output": {"entities": {"gene": [{"text": "S100A10", "start": 77, "end": 84}], "disease": [{"text": "medulloblastoma", "start": 134, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A10", "start": 77, "end": 84}, "tail": {"text": "medulloblastoma", "start": 134, "end": 149}}]}}, "schema": []}
{"input": "We determined the effects of androgen, cadmium, and arsenic on MT1/2 and MT3 in prostate carcinoma cells, and evaluated the functional effects of MT3 on cell proliferation, invasion, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "MT3", "start": 73, "end": 76}], "disease": [{"text": "prostate carcinoma", "start": 80, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "In BPD, the expression of HDAC4 mRNA was increased only in a depressive state, and the expression of HDAC6 and-8 was decreased in both depressive and remissive states compared to controls, whereas the first-degree relatives did not show any significant alteration in expression levels.", "output": {"entities": {"gene": [{"text": "HDAC6", "start": 101, "end": 106}], "disease": [{"text": "depressive state", "start": 61, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC6", "start": 101, "end": 106}, "tail": {"text": "depressive state", "start": 61, "end": 77}}]}}, "schema": []}
{"input": "We demonstrate that either pre-or post-ischemia treatment with 40 mg/kg of N-bis-(3-phenyl-propyl) 9-oxo-fluorene-2, 7-diamide, a novel PARG inhibitor, significantly reduces brain infarct volumes by 40-53% in a rat model of focal cerebral ischemia.", "output": {"entities": {"gene": [{"text": "PARG", "start": 136, "end": 140}], "disease": [{"text": "ischemia", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The group III family of metabotropic glutamate (mGlu) receptors (mGlu (4,) mGlu (7) and mGlu (8) receptors) remains the most poorly investigated of all glutamate receptors in this regard, despite early research efforts showing that they may be major players in stress-induced pathology, genetic vulnerability to the onset of depression and in the action of pharmacotherapies.", "output": {"entities": {"gene": [{"text": "mGlu (7", "start": 75, "end": 82}], "disease": [{"text": "depression", "start": 325, "end": 335}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGlu (7", "start": 75, "end": 82}, "tail": {"text": "depression", "start": 325, "end": 335}}]}}, "schema": []}
{"input": "We previously identified synovial mRNA expression of a set of chemokines (CCL19, IL-8, CCL5, XCL-1, CCR7) associated with synovitis in patients with meniscal tears but without radiographic OA.", "output": {"entities": {"gene": [{"text": "CCL19", "start": 74, "end": 79}], "disease": [{"text": "synovitis", "start": 122, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Our results support the hypothesis that WS is caused by constitutional mutations in EZH2 that alter the histone methyltransferase function of PRC2.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 84, "end": 88}], "disease": [{"text": "WS", "start": 40, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EZH2", "start": 84, "end": 88}, "tail": {"text": "WS", "start": 40, "end": 42}}]}}, "schema": []}
{"input": "To identify antigenic differences between gliomas and normal brain, we have immunohistochemically studied the expression of lymphocyte adhesion molecules (ICAM-1, ICAM-2, ICAM-3, VCAM-1, E-selectin and CD58), epidermal growth factor receptor (EGFR) and extracellular matrix proteins (collagen IV, fibronectin, laminin, merosin, tenascin and vitronectin) in these tissues.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 243, "end": 247}], "disease": [{"text": "adhesion", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.", "output": {"entities": {"gene": [{"text": "WDR37", "start": 20, "end": 25}], "disease": [{"text": "Intellectual Disability", "start": 101, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WDR37", "start": 20, "end": 25}, "tail": {"text": "Intellectual Disability", "start": 101, "end": 124}}]}}, "schema": []}
{"input": "Here, we show that the soluble form of the extracellular matrix proteoglycan decorin controls inflammation and tumor growth through PDCD4 (programmed cell death 4) and miR-21 (microRNA-21) by two mechanisms.", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 132, "end": 137}], "disease": [{"text": "inflammation", "start": 94, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "All genes performed well in the samples of patients with low disease activity, but HPRT1, β-actin, GAPDH and 18S rRNA ranked poorly in samples with severe fibrosis or inflammation.", "output": {"entities": {"gene": [{"text": "β-actin", "start": 90, "end": 97}], "disease": [{"text": "inflammation", "start": 167, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to evaluate PRL and GH secretion after metoclopramide and thyrotrophin-releasing hormone (TRH) infusion in infertile patients with minimal/mild endometriosis.", "output": {"entities": {"gene": [{"text": "TRH", "start": 107, "end": 110}], "disease": [{"text": "mild", "start": 156, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Available data sets suggest that RalA mRNA is also overexpressed in seminoma, glioblastoma, and carcinomas of the liver, pancreas, and prostate.", "output": {"entities": {"gene": [{"text": "RalA", "start": 33, "end": 37}], "disease": [{"text": "glioblastoma", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These data suggest seizures induce formation of the Apaf-1/cytochrome c complex prior to caspase-9 activation and caspase-9 may be a potential therapeutic target in the treatment of brain injury associated with seizures.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 59, "end": 71}], "disease": [{"text": "seizures", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "These findings of CHK2 gene mutations are consistent with osteosarcoma being a defining tumor of Li-Fraumeni syndrome.", "output": {"entities": {"gene": [{"text": "CHK2", "start": 18, "end": 22}], "disease": [{"text": "osteosarcoma", "start": 58, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHK2", "start": 18, "end": 22}, "tail": {"text": "osteosarcoma", "start": 58, "end": 70}}]}}, "schema": []}
{"input": "Strikingly, genetic ablation of TRPA1 inhibited allergen-induced leukocyte infiltration in the airways, reduced cytokine and mucus production, and almost completely abolished airway hyperreactivity to contractile stimuli.", "output": {"entities": {"gene": [{"text": "TRPA1", "start": 32, "end": 37}], "disease": [{"text": "airway hyperreactivity", "start": 175, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPA1", "start": 32, "end": 37}, "tail": {"text": "airway hyperreactivity", "start": 175, "end": 197}}]}}, "schema": []}
{"input": "Ovatodiolide suppresses yes-associated protein 1-modulated cancer stem cell phenotypes in highly malignant hepatocellular carcinoma and sensitizes cancer cells to chemotherapy in vitro.", "output": {"entities": {"gene": [{"text": "yes-associated protein 1", "start": 24, "end": 48}], "disease": [{"text": "hepatocellular carcinoma", "start": 107, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "yes-associated protein 1", "start": 24, "end": 48}, "tail": {"text": "hepatocellular carcinoma", "start": 107, "end": 131}}]}}, "schema": []}
{"input": "The frequency of proteinuria and the percentage of proliferative retinopathy among the patients with retinopathy was higher in those with active ALDH2 and superactive ADH2.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 145, "end": 150}], "disease": [{"text": "proteinuria", "start": 17, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Despite their low combined BRAF and NRAS mutation frequency, Spitz naevi showed strong MAPK pathway activation as measured by cytoplasmic expression of dually phosphorylated ERK1/2, while blue naevi had weak pathway activation.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 174, "end": 178}], "disease": [{"text": "naevi", "start": 67, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Twenty-three single nucleotide polymorphisms located within the OAS1, OAS2, OAS3, and OASL genes were analyzed in 142 patients with Russian tick-borne encephalitis.", "output": {"entities": {"gene": [{"text": "OAS3", "start": 76, "end": 80}], "disease": [{"text": "encephalitis", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.", "output": {"entities": {"gene": [{"text": "histone acetyltransferase KAT6B", "start": 43, "end": 74}], "disease": [{"text": "Genitopatellar syndrome", "start": 81, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "histone acetyltransferase KAT6B", "start": 43, "end": 74}, "tail": {"text": "Genitopatellar syndrome", "start": 81, "end": 104}}]}}, "schema": []}
{"input": "Elevated alanine aminotransferase levels were associated neither with the presence of viremia nor with the RIBA pattern.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 107, "end": 111}], "disease": [{"text": "viremia", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the EGFR and HER2 genes were more frequently found in female never or light-smoking patients with adenocarcinoma, and there were no tumors that had two or more mutations simultaneously among EGFR, HER2 and KRAS.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 17, "end": 21}], "disease": [{"text": "smoking", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in ERCC5, RAD52, MUTYH and LIG3 correlated with the occurrence of severe neutropenia.", "output": {"entities": {"gene": [{"text": "MUTYH", "start": 31, "end": 36}], "disease": [{"text": "neutropenia", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Further, the count of CCR2 + PBMCs and CCR2 mRNA transcript in PBMCs was significantly lower in severe and moderate ALS as compared to ALS patients with mild impairments.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 22, "end": 26}], "disease": [{"text": "mild", "start": 153, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Currently, a meta-analysis is ongoing; its result will contribute to the evaluation of the importance of the INSIG2 polymorphism in body weight regulation.", "output": {"entities": {"gene": [{"text": "INSIG2", "start": 109, "end": 115}], "disease": [{"text": "body weight", "start": 132, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Using ChIP-chip analysis, we identified cell migration and adhesion genes, including Tsp-1/THBS1, ING4, PVRL3, and PPAP2B, as Myc-bound loci in medulloblastoma cells.", "output": {"entities": {"gene": [{"text": "PVRL3", "start": 104, "end": 109}], "disease": [{"text": "medulloblastoma", "start": 144, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Further analyses do not support mediating roles for smoking, alcohol consumption or physical activity but suggest that CD8 + CD28-cell telomere length may act as a partial mediator of the associations between childhood SES and infection and childhood SES and colds.", "output": {"entities": {"gene": [{"text": "CD28", "start": 125, "end": 129}], "disease": [{"text": "alcohol consumption", "start": 61, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "To date, 11 NOD2 gene mutations causing Blau syndrome have been described.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 12, "end": 16}], "disease": [{"text": "Blau syndrome", "start": 40, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOD2", "start": 12, "end": 16}, "tail": {"text": "Blau syndrome", "start": 40, "end": 53}}]}}, "schema": []}
{"input": "Proteolytic activity of the mucosa-associated lymphoid tissue lymphoma translocation protein-1 (MALT1) paracaspase is required for survival of the activated B cell subtype of diffuse large B cell lymphoma (ABC-DLBCL).", "output": {"entities": {"gene": [{"text": "paracaspase", "start": 103, "end": 114}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrated that microinjection of HSV-1 amplicon vector-mediated hPPE into the ventral PAG attenuates neuropathic pain in rats.", "output": {"entities": {"gene": [{"text": "PAG", "start": 103, "end": 106}], "disease": [{"text": "neuropathic pain", "start": 118, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In contrast, NEC/mono-DC co-cultures using NEC from smokers contained increased influenza-induced concentrations of the Th2 chemokine thymic stromal lymphopoeitin (TSLP).", "output": {"entities": {"gene": [{"text": "TSLP", "start": 164, "end": 168}], "disease": [{"text": "influenza", "start": 80, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Spectral karyotyping-fluorescent in situ hybridization (SKY-FISH) analysis showed no abnormal translocation; however, a bcr/abl fusion gene was detected by reverse transcriptase-polymerase chain reaction analysis.", "output": {"entities": {"gene": [{"text": "SKY", "start": 56, "end": 59}], "disease": [{"text": "translocation", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We assessed the relationships of the MRI and mammographic measures to one another, to standard anthropometric and hormonal factors, to BRCA1/2 genetic status, and to breast cancer risk (60 cases) using linear and Poisson regression.", "output": {"entities": {"gene": [{"text": "MRI", "start": 37, "end": 40}], "disease": [{"text": "breast cancer", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported that increased messenger RNA (mRNA) stability contributes to the elevated steady state levels of bFGF mRNA in human U87-MG glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 144, "end": 147}], "disease": [{"text": "glioma", "start": 151, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The t (8; 21) translocation fuses the DNA-binding domain of the hematopoietic master regulator RUNX1 to the ETO protein.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 95, "end": 100}], "disease": [{"text": "translocation", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Of the 13 cervical cancer-specific RAR, RAR gain in the 1p36. 22 locus where the PGD gene is located was the most commonly detected in cancers (P = 0. 004).", "output": {"entities": {"gene": [{"text": "RAR", "start": 35, "end": 38}], "disease": [{"text": "cervical cancer", "start": 10, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The dynamin-related GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited neuropathy of the retinal ganglion cells.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 27, "end": 31}], "disease": [{"text": "DOA", "start": 80, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 27, "end": 31}, "tail": {"text": "DOA", "start": 80, "end": 83}}]}}, "schema": []}
{"input": "Copy number aberration, translocation and point mutation of FAT1, FAT2, FAT3, FAT4, FRMD1, FRMD6, NF2, WWC1, WWC2, SAV1, STK3, STK4, MOB1A, MOB1B, LATS1, LATS2, YAP1 and WWTR1/TAZ genes should be comprehensively investigated in various types of human cancers to elucidate the mutation landscape of the FAT‑Hippo signaling cascades.", "output": {"entities": {"gene": [{"text": "YAP1", "start": 161, "end": 165}], "disease": [{"text": "translocation", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Decreased infarct size and reduced fibrosis were observed in the ILK-MSC-CM group.", "output": {"entities": {"gene": [{"text": "MSC", "start": 69, "end": 72}], "disease": [{"text": "infarct", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "We previously found an R83H missense mutation in MiRP2 that segregated with periodic paralysis in two families and diminished the effects of MiRP2 on Kv3. 4.", "output": {"entities": {"gene": [{"text": "Kv3. 4", "start": 150, "end": 156}], "disease": [{"text": "periodic paralysis", "start": 76, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.", "output": {"entities": {"gene": [{"text": "RSK2", "start": 11, "end": 15}], "disease": [{"text": "Coffin-Lowry syndrome", "start": 82, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RSK2", "start": 11, "end": 15}, "tail": {"text": "Coffin-Lowry syndrome", "start": 82, "end": 103}}]}}, "schema": []}
{"input": "In this study we tested hypothesis that aberrant p16 might cooperate with inactive PTEN during pathogenesis of NSCLC, particularly in promoting tumor aggressiveness and invasiveness.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 83, "end": 87}], "disease": [{"text": "aggressiveness", "start": 150, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Logistic regression models including age, gender, education, smoking and drinking status, Helicobacter pylori infection and ALDH2 genotype were evaluated to estimate the adjusted odds ratios (ORs) for the development of gastric cancer.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 124, "end": 129}], "disease": [{"text": "smoking", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Acute myeloid leukemia possessing jumping translocation is related to highly elevated levels of EAT/mcl-1, a Bcl-2 related gene with anti-apoptotic functions.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 109, "end": 114}], "disease": [{"text": "translocation", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The relationship of NAT2, CYP2E1 and GSTM1/GSTT1 polymorphisms with mild elevation of liver biomarkers was investigated in individuals under anti-tuberculosis drug therapy.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 20, "end": 24}], "disease": [{"text": "mild", "start": 68, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "These data do not support the association between ACE I/D genotype and ARDS, although severe hypoxemia was less frequent in D allele carriers.", "output": {"entities": {"gene": [{"text": "ACE", "start": 50, "end": 53}], "disease": [{"text": "hypoxemia", "start": 93, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the effects of LTC4S-444 A/C, ALOX5-176/-147, and ALOX5AP-169/-146 on asthma susceptibility by means of a case-control study with 193 ethnically matched, unrelated individuals.", "output": {"entities": {"gene": [{"text": "LTC4S", "start": 27, "end": 32}], "disease": [{"text": "asthma susceptibility", "start": 82, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "In this paper we describe the full-length cloning and characterization of human CADPS and CADPS2, two new homologs of the mouse Cadps protein involved in large dense-core vesicle (LDCV)-regulated exocytosis.", "output": {"entities": {"gene": [{"text": "CADPS2", "start": 90, "end": 96}], "disease": [{"text": "vesicle", "start": 171, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Endorsing the expectation of a more intense response on one or more of the following items from the SHAS-E: buzzed, clumsy, dizzy, drunk, effects, high, nausea, sleepy, talkative, terrible, and/or uncomfortable after imbibing 2-3 drinks was significantly associated with having at least one minor allele for at least one of 7 SNPs (p & lt; 0. 01) in the OPRM1 receptor gene.", "output": {"entities": {"gene": [{"text": "OPRM1", "start": 354, "end": 359}], "disease": [{"text": "drunk", "start": 131, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPRM1", "start": 354, "end": 359}, "tail": {"text": "drunk", "start": 131, "end": 136}}]}}, "schema": []}
{"input": "To study such patterns in Barrett' s metaplasia and squamous cell carcinoma of the oesophagus (SCC), the distribution of MUC1, MUC2, MUC5AC and the three TFF peptides (TFF1, TFF2 and TFF3) was investigated.", "output": {"entities": {"gene": [{"text": "TFF3", "start": 183, "end": 187}], "disease": [{"text": "squamous cell carcinoma", "start": 52, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Recently, PCT has also been associated with mutations in the HFE gene that are associated with HLA-linked hereditary hemochromatosis.", "output": {"entities": {"gene": [{"text": "HFE", "start": 61, "end": 64}], "disease": [{"text": "hemochromatosis", "start": 117, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HFE", "start": 61, "end": 64}, "tail": {"text": "hemochromatosis", "start": 117, "end": 132}}]}}, "schema": []}
{"input": "Loss of annexin II heavy chain appears to be specific for prostate cancer since overexpression of annexin II is observed in a majority of human cancers, including pancreatic cancer, breast cancer and brain tumors.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 19, "end": 30}], "disease": [{"text": "brain tumors", "start": 200, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Thus, inappropriate activation of PKR as a consequence of certain FA mutations might play a role in bone marrow failure that frequently occurred in FA.", "output": {"entities": {"gene": [{"text": "PKR", "start": 34, "end": 37}], "disease": [{"text": "bone marrow failure", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, rat transplanted with EPCs transfected with TERT showed significantly reduced renal interstitial fibrosis and increased endogenous creatinine clearance rate and peritubular MVD (p < 0. 05).", "output": {"entities": {"gene": [{"text": "MVD", "start": 186, "end": 189}], "disease": [{"text": "renal interstitial fibrosis", "start": 91, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Interventions improving insulin sensitivity--exercise and bariatric surgery--were associated with a significant (p < 0. 001) reduction in WAT NNMT expression.", "output": {"entities": {"gene": [{"text": "NNMT", "start": 142, "end": 146}], "disease": [{"text": "insulin sensitivity", "start": 24, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "For lobar pneumonia, children with pleural effusion showed higher levels of VEGF than those without pleural effusion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 76, "end": 80}], "disease": [{"text": "lobar pneumonia", "start": 4, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our study demonstrates that gastrin precursors, known to promote colon epithelial cells proliferation and survival can also contribute to the angiogenesis process by stimulating the expression of the proangiogenic factor VEGF via the PI3K pathway and independently of hypoxia conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 236, "end": 240}], "disease": [{"text": "hypoxia", "start": 283, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for body mass index, CYP2C9 * 2 was the only polymorphism associated with ALT, AST, and DILI (β = 2. 16, P = 0. 024; β = 1. 92, P = 0. 016; odds ratio 95% CI = 2. 29-∞, P = 0. 003, respectively).", "output": {"entities": {"gene": [{"text": "AST", "start": 95, "end": 98}], "disease": [{"text": "body mass index", "start": 20, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "The chronic heart failure-rescuing properties of myocardial S100A1 expression, the result of improved sarcoplasmic reticulum Ca2 + handling, included improved contractile function and left ventricular remodeling.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 125, "end": 128}], "disease": [{"text": "ventricular remodeling", "start": 189, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Our study provides strong evidence that Gent inhibits reserpine-induced pain/depression dyad by downregulating GluN2B receptors in the amygdala.", "output": {"entities": {"gene": [{"text": "GluN2B", "start": 111, "end": 117}], "disease": [{"text": "depression", "start": 77, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GluN2B", "start": 111, "end": 117}, "tail": {"text": "depression", "start": 77, "end": 87}}]}}, "schema": []}
{"input": "Nonetheless, gene-based tests identified four genes significantly associated with lifetime cannabis use: NCAM1, CADM2, SCOC and KCNT2.", "output": {"entities": {"gene": [{"text": "CADM2", "start": 112, "end": 117}], "disease": [{"text": "cannabis", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Thus our study demonstrates that Clc-1 RNA translation defects work coordinately with Clc-1 splice errors to synergistically enhance myotonia in mice lacking Mbnl1 and Mbnl3.", "output": {"entities": {"gene": [{"text": "Mbnl3", "start": 168, "end": 173}], "disease": [{"text": "myotonia", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.", "output": {"entities": {"gene": [{"text": "COL7A1", "start": 40, "end": 46}], "disease": [{"text": "recessive dystrophic epidermolysis bullosa", "start": 50, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL7A1", "start": 40, "end": 46}, "tail": {"text": "recessive dystrophic epidermolysis bullosa", "start": 50, "end": 92}}]}}, "schema": []}
{"input": "We sought to determine whether molecular abnormalities involving the IKZF1 gene were associated with resistance to tyrosine kinase inhibitors (TKIs) in Ph + acute lymphoblastic leukemia (ALL) patients.", "output": {"entities": {"gene": [{"text": "IKZF1 gene", "start": 69, "end": 79}], "disease": [{"text": "abnormalities", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "This suggests that Dgcr8-microRNA-Drd2-dependent thalamocortical disruption is a pathogenic event underlying schizophrenia-associated psychosis.", "output": {"entities": {"gene": [{"text": "Dgcr8", "start": 19, "end": 24}], "disease": [{"text": "psychosis", "start": 134, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dgcr8", "start": 19, "end": 24}, "tail": {"text": "psychosis", "start": 134, "end": 143}}]}}, "schema": []}
{"input": "One hundred and twenty-four Australian patients with sporadic melanoma and 62 with familial basal cell carcinomas (a feature of nevoid basal cell carcinoma syndrome, NBCCS) were examined for germline homozygous deletions of GSTM1 using multiplex polymerase chain reactions.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 224, "end": 229}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Pan-caspase and caspase-3 inhibitors reduced cellular death (necrosis and apoptosis) 24 h after Gly-ARF.", "output": {"entities": {"gene": [{"text": "ARF", "start": 100, "end": 103}], "disease": [{"text": "necrosis", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Abca12 deficiency caused an accumulation of cholesterol in macrophages and the formation of foam cells, impaired reverse cholesterol transport in vivo, and increased the development of atherosclerosis in irradiated Apoe (-/-) mice reconstituted with Apoe (-/-) Abca12 (-/-) bone marrow.", "output": {"entities": {"gene": [{"text": "Abca12", "start": 0, "end": 6}], "disease": [{"text": "foam cells", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Based on these data, we conclude that, though not causative, CFHR5 genetic alterations may play a secondary role in the pathogenesis of HUS.", "output": {"entities": {"gene": [{"text": "CFHR5", "start": 61, "end": 66}], "disease": [{"text": "secondary", "start": 98, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Silencing TACE expression in HeLa cells decreased their malignancy by decreasing the proliferation, adhesion and migration, as well as inducing apoptosis in these cells.", "output": {"entities": {"gene": [{"text": "TACE", "start": 10, "end": 14}], "disease": [{"text": "adhesion", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "FISH analysis using a hotspot tumor tissue microarray of 37 paraffin-embedded neuroblastoma samples and in silico data mining for gene expression information obtained from previously published studies including up to 445 healthy nervous system samples and 123 neuroblastoma samples were used to evaluate the clinical significance and transcriptional consequences of the detected alterations and to identify subsequently activated gene (s).", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "neuroblastoma", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Additionally, lower HDL-cholesterol levels and smoking were related to MCI when assessed 7 years prior to baseline.", "output": {"entities": {"gene": [{"text": "MCI", "start": 71, "end": 74}], "disease": [{"text": "smoking", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We found that a single nucleotide polymorphism in the CAMK4 promoter was significantly associated with cocaine addiction, whereas variations in the CREB promoter regions did not correlate with drug abuse.", "output": {"entities": {"gene": [{"text": "CAMK4", "start": 54, "end": 59}], "disease": [{"text": "cocaine addiction", "start": 103, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAMK4", "start": 54, "end": 59}, "tail": {"text": "cocaine addiction", "start": 103, "end": 120}}]}}, "schema": []}
{"input": "The inhibition of macrophage ADAMTS-4 expression is likely to contribute to the anti-atherogenic, plaque stabilisation action of TGF-β.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 129, "end": 134}], "disease": [{"text": "plaque", "start": 98, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The exogenous administration of Insulin-like Growth Factor-I (IGF-I) induces hepatoprotective and antifibrogenic actions in experimental liver cirrhosis.", "output": {"entities": {"gene": [{"text": "Insulin-like Growth Factor-I", "start": 32, "end": 60}], "disease": [{"text": "experimental liver cirrhosis", "start": 124, "end": 152}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Insulin-like Growth Factor-I", "start": 32, "end": 60}, "tail": {"text": "experimental liver cirrhosis", "start": 124, "end": 152}}]}}, "schema": []}
{"input": "Using a combination of loss-and gain-of-function approaches, we find that MMP13 is the cause of RKIP-mediated inhibition of local cancer invasion.", "output": {"entities": {"gene": [{"text": "MMP13", "start": 74, "end": 79}], "disease": [{"text": "local cancer", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, Hif2a heterozygosity resulted in partial protection against vascular remodeling, hemorrhage, and edema, but not inflammation, in VhlR/R lungs, suggesting a selective role for HIF-2alpha in the pulmonary pathology and thereby providing insight into the mechanisms underlying pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "Hif2a", "start": 13, "end": 18}], "disease": [{"text": "vascular remodeling", "start": 73, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH.", "output": {"entities": {"gene": [{"text": "BMPR2", "start": 38, "end": 43}], "disease": [{"text": "PVOD", "start": 15, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPR2", "start": 38, "end": 43}, "tail": {"text": "PVOD", "start": 15, "end": 19}}]}}, "schema": []}
{"input": "In this study, we demonstrate increased expression and production levels of VEGF in myeloma compared to non-myelomatous hematological lines, resistance to hypoxia and enhancement of VEGF-A production by hypoxia in myeloma, and direct growth inhibition of myeloma cells due to apoptosis and G1 arrest caused by TNFalpha upregulation induced by thalidomide.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 182, "end": 188}], "disease": [{"text": "hypoxia", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "We investigated the different effects of ALDH2 genotypes on the risk of cerebral infarction between the genders, because different genders had different smoking and/or dinking status which are also risk factors for cerebral infarction.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 41, "end": 46}], "disease": [{"text": "smoking", "start": 153, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Antiproliferative effects of EGFR tyrosine kinase inhibition and radiation-induced genotoxic injury are attenuated by adhesion to fibronectin.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 29, "end": 33}], "disease": [{"text": "adhesion", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Pathologic TAR-DNA-binding protein 43 (TDP-43) is a disease protein in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 15, "end": 34}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 153, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "This prospective study quantifies the response of hemoglobin and other blood factors to Epoetin alpha (EPO) administration in the course of pre-operative chemotherapy in breast cancer.", "output": {"entities": {"gene": [{"text": "EPO", "start": 103, "end": 106}], "disease": [{"text": "hemoglobin", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, TSA reduced both basal levels and hypoxia-induced HIF-1α protein accumulation but not HIF-1α mRNA levels, and both protein and mRNA levels of VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 155, "end": 159}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Variations in the capsid protein (p24) had the strongest associations with the viral load and CD4 cell count.", "output": {"entities": {"gene": [{"text": "p24", "start": 34, "end": 37}], "disease": [{"text": "viral load", "start": 79, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "PON1 activity, plasma lipids, the titer of autoantibodies against malondialdehyde (MDA)-modified LDL, and atherosclerosis in AdPON1 mice were compared with these in mice that received a control recombinant adenovirus (AdRR5).", "output": {"entities": {"gene": [{"text": "PON1", "start": 0, "end": 4}], "disease": [{"text": "adenovirus", "start": 206, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.", "output": {"entities": {"gene": [{"text": "CELF2", "start": 21, "end": 26}], "disease": [{"text": "prostate cancer", "start": 147, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CELF2", "start": 21, "end": 26}, "tail": {"text": "prostate cancer", "start": 147, "end": 162}}]}}, "schema": []}
{"input": "We examined the association of androgen receptor gene cytosine-adenine-guanine (CAG) repeat length and the 2 single nucleotide polymorphisms A49T and V89L in the type II 5 alpha-reductase gene with prostate enlargement measured as the weight of the surgically removed prostate.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 31, "end": 53}], "disease": [{"text": "weight", "start": 235, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "This current study is the first to find an interaction between OPRM1 and life stress that is associated with depression.", "output": {"entities": {"gene": [{"text": "OPRM1", "start": 63, "end": 68}], "disease": [{"text": "depression", "start": 109, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPRM1", "start": 63, "end": 68}, "tail": {"text": "depression", "start": 109, "end": 119}}]}}, "schema": []}
{"input": "Thirty-four biopsied muscles of Duchenne, Becker and congenital muscular dystrophy, congenital myotonic dystrophy and amyotrophic lateral sclerosis were examined by an immunocytochemical method with an anti-dystrophin-related protein (DRP) antibody.", "output": {"entities": {"gene": [{"text": "DRP", "start": 235, "end": 238}], "disease": [{"text": "congenital muscular dystrophy", "start": 53, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Moreover, 16 of the 32 patients analyzed by FISH were found to be positive for the presence of i (17q): the 2 with teratoid/rhabdoid tumors, 11 of 16 with medulloblastomas, plus 1 with ependymoblastoma and 2 with anaplastic astrocytomas.", "output": {"entities": {"gene": [{"text": "FISH", "start": 44, "end": 48}], "disease": [{"text": "ependymoblastoma", "start": 185, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The secretion of IL-10 by peripheral blood mononuclear cells (PBMC) and the expression of IL-10 mRNA in fractionated CD4 + and CD8 + lymphocyte subsets and non-B-non-T cells, with and without stimulation by the mitogen phytohemagglutinin-C (PHA-C) and specific Echinococcus multilocularis (E. multilocularis) antigens, were assessed in 7 patients with alveolar echinococcosis (AE) and 6 healthy subjects.", "output": {"entities": {"gene": [{"text": "CD4", "start": 117, "end": 120}], "disease": [{"text": "alveolar echinococcosis", "start": 352, "end": 375}]}, "relations": {}}, "schema": []}
{"input": "At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and schizophrenia, 10 of which are present at polymorphic frequencies.", "output": {"entities": {"gene": [{"text": "PRODH", "start": 12, "end": 17}], "disease": [{"text": "HPI", "start": 96, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRODH", "start": 12, "end": 17}, "tail": {"text": "HPI", "start": 96, "end": 99}}]}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "SFRP1", "start": 218, "end": 223}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SFRP1", "start": 218, "end": 223}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "Allograft animals that received 5 microg/day of recombinant IL-10 as a constant infusion on day 14 showed almost complete preservation of respiratory epithelium and only mild peribronchial inflammation with only a 15% reduction in airway cross-sectional area.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 60, "end": 65}], "disease": [{"text": "mild", "start": 170, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2.", "output": {"entities": {"gene": [{"text": "keratin 17", "start": 42, "end": 52}], "disease": [{"text": "pachyonychia congenita type 2", "start": 79, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 17", "start": 42, "end": 52}, "tail": {"text": "pachyonychia congenita type 2", "start": 79, "end": 108}}]}}, "schema": []}
{"input": "CXCR4 expression, analyzed by real-time PCR and Western blot, was increased in human chondrosarcoma cell line JJ compared with normal chondrocytes and was further increased in JJ by hypoxia (2% O2), vascular endothelial growth factor A (VEGFA; 10 ng/mL), and in xenograft tumors in nude mice.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 237, "end": 242}], "disease": [{"text": "hypoxia", "start": 182, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "A novel gene associated with nanophthalmos, TMEM98 most likely represents the cause of the disease in this family.", "output": {"entities": {"gene": [{"text": "TMEM98", "start": 44, "end": 50}], "disease": [{"text": "nanophthalmos", "start": 29, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM98", "start": 44, "end": 50}, "tail": {"text": "nanophthalmos", "start": 29, "end": 42}}]}}, "schema": []}
{"input": "A number of the genes found were involved in known pathways controlled by RORα, for instance LPA, NR1D2 and ADIPOQ in lipid metabolism, ADIPOQ and PLG in inflammation, PLG in fibrinolysis and NR1D2 and NR1D1 in circadian rhythm.", "output": {"entities": {"gene": [{"text": "ADIPOQ", "start": 108, "end": 114}], "disease": [{"text": "circadian rhythm", "start": 211, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "In the villi with characteristic hypoxic/ischemic changes (HIC), including increased syncytial knots, infarction, or hypercapillarization, intense immunostaining for VEGF was detected in the media of blood vessels, and increased staining for KDR was demonstrated in the endothelial cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 166, "end": 170}], "disease": [{"text": "hypoxic", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Neither netrin-1 protein nor mRNA was associated with the glial scar, but netrin-1 was expressed by neurons and oligodendrocytes immediately adjacent to the lesion.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 8, "end": 16}], "disease": [{"text": "scar", "start": 64, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The results from this study indicate that methylation of THBS1 and GATA-4 occurs in the early stages of chronic gastritis and gastric cancer in association with H. pylori infection; however, in gastric cancer samples, other mechanisms cooperate with the down-regulation of these genes.", "output": {"entities": {"gene": [{"text": "GATA", "start": 67, "end": 71}], "disease": [{"text": "chronic gastritis", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that increased adiposity enhances the production of thrombin in adipose tissue by stimulating factor VII expression and suggest that increased thrombin activity in adipose tissue plays an important role in the development of insulin resistance via enhancing MCP-1 production, leading to macrophage infiltration and insulin receptor substrate-1-Akt pathway inactivation.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 120, "end": 130}], "disease": [{"text": "insulin resistance", "start": 251, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Kv12. 2-/-(also known as Kcnh3-/-) mice showed signs of persistent neuronal hyperexcitability including frequent interictal spiking, spontaneous seizures and increased sensitivity to the chemoconvulsant pentylenetetrazol.", "output": {"entities": {"gene": [{"text": "Kcnh3", "start": 25, "end": 30}], "disease": [{"text": "seizures", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, injection of SIRT1 lentivirus in the hippocampus of p25 transgenic mice conferred significant protection against neurodegeneration.", "output": {"entities": {"gene": [{"text": "p25", "start": 65, "end": 68}], "disease": [{"text": "neurodegeneration", "start": 126, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p25", "start": 65, "end": 68}, "tail": {"text": "neurodegeneration", "start": 126, "end": 143}}]}}, "schema": []}
{"input": "We here investigated the anticancer mechanism of 1-stearoyl-sn-glycero-3-phosphocholine (LPC), one of the lysophosphatidylcholines, in chronic myelogenous leukemia (CML) K562 cells.", "output": {"entities": {"gene": [{"text": "LPC", "start": 89, "end": 92}], "disease": [{"text": "chronic myelogenous leukemia", "start": 135, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "High expression of TRF2, SOX10, and CD10 in circulating tumor microemboli detected in metastatic melanoma patients. A potential impact for the assessment of disease aggressiveness.", "output": {"entities": {"gene": [{"text": "TRF2", "start": 19, "end": 23}], "disease": [{"text": "aggressiveness", "start": 165, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Abnormal DNA methylation of ITGAL (CD11a) in CD4 + T cells from infants with biliary atresia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 45, "end": 48}], "disease": [{"text": "biliary atresia", "start": 77, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Seventy-three patients, aged 52. 4 ± 15. 4 years, with a body mass index of 25. 2 ± 4. 1 kg/m (2), mean ± SD, were grouped into sporadic, cluster 1 (SDHx, VHL) and cluster 2 (RET, NF1, MAX) mutations.", "output": {"entities": {"gene": [{"text": "MAX", "start": 185, "end": 188}], "disease": [{"text": "sporadic", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Transcription of HERV-W, ERV9 and HERV-K (HML-2) taxa was further quantified in postmortem brain samples of patients with schizophrenia, bipolar disorders and a healthy control group with regard to their medication.", "output": {"entities": {"gene": [{"text": "HML-2", "start": 42, "end": 47}], "disease": [{"text": "bipolar disorders", "start": 137, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HML-2", "start": 42, "end": 47}, "tail": {"text": "bipolar disorders", "start": 137, "end": 154}}]}}, "schema": []}
{"input": "MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.", "output": {"entities": {"gene": [{"text": "DOCK3", "start": 37, "end": 42}], "disease": [{"text": "muscular dystrophy", "start": 80, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We also showed that SIM attenuated cardiac hypertrophy in rats with pressure overload due to abdominal aortic constriction by measuring such parameters as systolic blood pressure, ratio of heart weight to body weight and ratio of left ventricular weight to body weight in rats as well as cross-sectional area of cardiomyocytes.", "output": {"entities": {"gene": [{"text": "SIM", "start": 20, "end": 23}], "disease": [{"text": "systolic blood pressure", "start": 155, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Double-hit lymphoma (DHL) has been defined by others as a B-cell lymphoma with MYC/8q24 rearrangement in combination with a translocation involving another gene, such as BCL2, BCL3, or BCL6.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 170, "end": 174}], "disease": [{"text": "translocation", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "MOST-1 displayed cytoplasmic localization in four human cell lines (hTERT-HME1 normal mammary epithelial, MCF7 breast adenocarcinoma, PrEC normal prostate epithelial and DU145 prostate carcinoma), with polar expression during cell division.", "output": {"entities": {"gene": [{"text": "MOST-1", "start": 0, "end": 6}], "disease": [{"text": "prostate carcinoma", "start": 176, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Moreover, whereas the association between DRB1 * 0402 and pemphigus vulgaris (p < 0. 0001) has been confirmed, no significant association between a specific allele of the DR4 group and pemphigus foliaceus, has been found.", "output": {"entities": {"gene": [{"text": "DR4", "start": 171, "end": 174}], "disease": [{"text": "pemphigus vulgaris", "start": 58, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Comparison of miRNAs affected by Ago2 deficiency with miRNAs that are enriched and/or up-regulated in Drd2-neurons in response to cocaine identified a set of miRNAs that are likely to play a role in cocaine addiction.", "output": {"entities": {"gene": [{"text": "Ago2", "start": 33, "end": 37}], "disease": [{"text": "cocaine addiction", "start": 199, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ago2", "start": 33, "end": 37}, "tail": {"text": "cocaine addiction", "start": 199, "end": 216}}]}}, "schema": []}
{"input": "Here, we investigate the expression of Bcl-2/adenovirus E1B 19 kd-interacting protein 3 (BNIP3), a proapoptotic Bcl-2 family member, and its relationship to hypoxia in cervical cancer cell lines and clinical samples of cervical cancer.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 89, "end": 94}], "disease": [{"text": "adenovirus", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The association between 10 polymorphisms tagging SELS and coronary (CAC), carotid (CarCP) and abdominal aortic calcified plaque, carotid intima media thickness and other known CVD risk factors was examined in 1220 European Americans from the family-based Diabetes Heart Study.", "output": {"entities": {"gene": [{"text": "CAC", "start": 68, "end": 71}], "disease": [{"text": "plaque", "start": 121, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "FISH abnormalities of genes implicated in familial cancer, tumor progression, and the 5-fluorouracil pathway were common but were not associated with specific types of pancreatic cancer.", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "familial cancer", "start": 42, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Deletion of the hypoxia-response element in the vascular endothelial growth factor (VEGF) promoter causes motor neuron degeneration in a mouse model.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 84, "end": 88}], "disease": [{"text": "hypoxia", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "MYC was one of the first oncogenes identified to be associated with chromosomal aberrations and one of the most common oncogenes involved in the pathogenesis of cancer.", "output": {"entities": {"gene": [{"text": "MYC", "start": 0, "end": 3}], "disease": [{"text": "chromosomal aberrations", "start": 68, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "An influence of alleles of the DRD4 on the development of AN, underweight, or extreme early onset obesity was not detected.", "output": {"entities": {"gene": [{"text": "DRD4", "start": 31, "end": 35}], "disease": [{"text": "underweight", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Five of 9 patients were clinically diagnosed as atypical CHARGE syndrome but demonstrated various mutations of the CHD7 gene.", "output": {"entities": {"gene": [{"text": "CHD7", "start": 115, "end": 119}], "disease": [{"text": "CHARGE syndrome", "start": 57, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHD7", "start": 115, "end": 119}, "tail": {"text": "CHARGE syndrome", "start": 57, "end": 72}}]}}, "schema": []}
{"input": "In conclusion, transcriptional synergy between STAT3 and NFκB functions to put weight on FAT10 in the mutually inhibitory FAT10-p53 regulatory loop and thus favors tumorigenesis under inflammatory conditions.", "output": {"entities": {"gene": [{"text": "FAT10", "start": 89, "end": 94}], "disease": [{"text": "tumorigenesis", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Paternally-inherited Sgce heterozygous knockout (Sgce KO) mice exhibit myoclonus, motor impairment and anxiety-and depression-like behaviors, modeling several clinical symptoms observed in DYT11 M-D patients.", "output": {"entities": {"gene": [{"text": "DYT11", "start": 189, "end": 194}], "disease": [{"text": "depression", "start": 115, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DYT11", "start": 189, "end": 194}, "tail": {"text": "depression", "start": 115, "end": 125}}]}}, "schema": []}
{"input": "There were no significant associations with age, serum calcium, serum PTH, bone mineral density, or parathyroid tumor weight.", "output": {"entities": {"gene": [{"text": "PTH", "start": 70, "end": 73}], "disease": [{"text": "bone mineral density", "start": 75, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Importantly, Epac1 expression was also reduced in lung tissue from COPD patients.", "output": {"entities": {"gene": [{"text": "Epac1", "start": 13, "end": 18}], "disease": [{"text": "COPD", "start": 67, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Epac1", "start": 13, "end": 18}, "tail": {"text": "COPD", "start": 67, "end": 71}}]}}, "schema": []}
{"input": "BAGE hypomethylation, a new epigenetic biomarker for colon cancer detection.", "output": {"entities": {"gene": [{"text": "BAGE", "start": 0, "end": 4}], "disease": [{"text": "colon cancer", "start": 53, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Thus, this study aimed to investigate whether PMFs are involved in the induction of tumoral L1CAM and whether this contributes to malignant transformation of pancreatic ductal cells and PDAC tumorigenesis.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 92, "end": 97}], "disease": [{"text": "tumorigenesis", "start": 191, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, the review shows that HCMP was present in only about 50% of the SCO2 patients with non-neonatal onset.", "output": {"entities": {"gene": [{"text": "SCO2", "start": 78, "end": 82}], "disease": [{"text": "neonatal onset", "start": 101, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We previously reported specific genotypes of polymorphisms in two genes, tumor necrosis factor-alpha (TNF-alpha-238G > A) and Apolipoprotein E (ApoE e2), as independent predictors of new intracranial hemorrhage (ICH) in the natural course of untreated brain arteriovenous malformations.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 126, "end": 142}], "disease": [{"text": "intracranial hemorrhage", "start": 187, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "The increase of malondialdehyde concentration in plasma and 8-hydroxydeoxyguanosine in serum and Cu/Zn superoxide dismutase activity in erythrocyte lysate of pregnants with IUGR, reinforced by smoking, was revealed.", "output": {"entities": {"gene": [{"text": "Cu/Zn superoxide dismutase", "start": 97, "end": 123}], "disease": [{"text": "IUGR", "start": 173, "end": 177}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cu/Zn superoxide dismutase", "start": 97, "end": 123}, "tail": {"text": "IUGR", "start": 173, "end": 177}}]}}, "schema": []}
{"input": "Functional analysis of GNG2 in human malignant melanoma cells.", "output": {"entities": {"gene": [{"text": "GNG2", "start": 23, "end": 27}], "disease": [{"text": "malignant melanoma", "start": 37, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Activation of astrocytes has been linked to neuronal injury in manganism resulting from overproduction of inflammatory mediators, including tumor necrosis factor-alpha (TNFalpha), interferon-gamma (IFNgamma), interleukin-1beta (IL-1beta), and nitric oxide (NO), but the signaling mechanisms by which Mn regulates these factors remain poorly understood.", "output": {"entities": {"gene": [{"text": "interferon-gamma", "start": 180, "end": 196}], "disease": [{"text": "manganism", "start": 63, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interferon-gamma", "start": 180, "end": 196}, "tail": {"text": "manganism", "start": 63, "end": 72}}]}}, "schema": []}
{"input": "IGF-IR gene anomalies presenting with intrauterine and postnatal growth retardation have recently been reported in some families.", "output": {"entities": {"gene": [{"text": "IGF", "start": 0, "end": 3}], "disease": [{"text": "postnatal growth retardation", "start": 55, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We also compared levels of HtrA proteins in follicular thyroid carcinoma (FTC) and papillary thyroid carcinoma (PTC) and found that these types of carcinoma differed in the expression of HtrA3-S and HtrA1.", "output": {"entities": {"gene": [{"text": "HtrA3", "start": 187, "end": 192}], "disease": [{"text": "papillary thyroid carcinoma", "start": 83, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Analyses of congenic mice indicated that at least two loci, Psl1. 1 and Psl1. 2, map to distal chromosome 9 and confer susceptibility to skin tumor promotion by TPA.", "output": {"entities": {"gene": [{"text": "Psl1", "start": 60, "end": 64}], "disease": [{"text": "tumor promotion", "start": 142, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In human colorectal adenoma and carcinoma cell lines, downregulation of β-catenin resulted in lower total DR4 and DR5 protein levels.", "output": {"entities": {"gene": [{"text": "DR4", "start": 106, "end": 109}], "disease": [{"text": "colorectal adenoma", "start": 9, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets.", "output": {"entities": {"gene": [{"text": "vitamin D receptor", "start": 17, "end": 35}], "disease": [{"text": "hereditary vitamin D resistant rickets", "start": 75, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "vitamin D receptor", "start": 17, "end": 35}, "tail": {"text": "hereditary vitamin D resistant rickets", "start": 75, "end": 113}}]}}, "schema": []}
{"input": "However, little is known about the relationship between the EMT and the multidrug-resistance gene in thyroid tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 60, "end": 63}], "disease": [{"text": "tumor progression", "start": 109, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The clinical presentations of 17β hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency, 5α-reductase type 2 deficiency, and complete androgen insensitivity syndrome can be similar.", "output": {"entities": {"gene": [{"text": "HSD3", "start": 75, "end": 79}], "disease": [{"text": "complete androgen insensitivity syndrome", "start": 129, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "A pedigree analyses of HGF; and the ultrastructure of gingival overgrowth tissue was observed with electron microscopy.", "output": {"entities": {"gene": [{"text": "HGF", "start": 23, "end": 26}], "disease": [{"text": "gingival overgrowth", "start": 54, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In a survival analysis, patients homozygous for CYP2B6 * 5 (n = 3) or CYP2C19 * 2 (n = 4) had a higher probability of reaching ESRD (P = 0. 0005) and of doubling the creatinine level (P = 0. 0005) as well as a trend toward a lower probability of achieving a complete renal response (P = 0. 051).", "output": {"entities": {"gene": [{"text": "CYP2C19", "start": 70, "end": 77}], "disease": [{"text": "ESRD", "start": 127, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2C19", "start": 70, "end": 77}, "tail": {"text": "ESRD", "start": 127, "end": 131}}]}}, "schema": []}
{"input": "According to studies in European, North American, Australian, and Asian populations, FUS gene mutations occur in 0. 6-20. 2% of the patients with familial amyotrophic lateral sclerosis (ALS) and 0. 4-2. 0% of sporadic ALS cases.", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 85, "end": 93}], "disease": [{"text": "sporadic", "start": 209, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings suggest HPV16 induces EMT-like processes via induction of the EMT transcription factors which may contribute to tumor progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 51, "end": 54}], "disease": [{"text": "tumor progression", "start": 141, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Stable over-expression of ADAMTS16 in chondrosarcoma cells led to a decrease in cell proliferation and migration, though not adhesion, as well as a decrease in the expression of matrix metalloproteinase-13 (MMP13).", "output": {"entities": {"gene": [{"text": "MMP13", "start": 207, "end": 212}], "disease": [{"text": "adhesion", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Further studies should be carried out on the 5-HT1D binding site as it might represent a new tool in the understanding of the depressive illness.", "output": {"entities": {"gene": [{"text": "5-HT1D", "start": 45, "end": 51}], "disease": [{"text": "depressive illness", "start": 126, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT1D", "start": 45, "end": 51}, "tail": {"text": "depressive illness", "start": 126, "end": 144}}]}}, "schema": []}
{"input": "In this study, we investigated whether polymorphisms in AKT1 affect susceptibility to tuberculosis (TB).", "output": {"entities": {"gene": [{"text": "AKT1", "start": 56, "end": 60}], "disease": [{"text": "susceptibility to tuberculosis", "start": 68, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Our investigations document that human thyroid cancer cell lines commonly express PPARgamma, but chromosomal translocations involving PPARgamma are uncommon.", "output": {"entities": {"gene": [{"text": "PPARgamma", "start": 82, "end": 91}], "disease": [{"text": "thyroid cancer", "start": 39, "end": 53}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PPARgamma", "start": 82, "end": 91}, "tail": {"text": "thyroid cancer", "start": 39, "end": 53}}]}}, "schema": []}
{"input": "In contrast to the skin lesions, bone marrow infiltrates of patients with systemic mastocytosis showed only low or absent immunoreactivity for bcl-2, but marked expression of bcl-xL.", "output": {"entities": {"gene": [{"text": "bcl-xL", "start": 175, "end": 181}], "disease": [{"text": "skin lesions", "start": 19, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of xCT, GCLM, FoxO3, or Nanog blocks chemotherapy-induced enrichment of BCSCs and impairs tumor initiation.", "output": {"entities": {"gene": [{"text": "GCLM", "start": 19, "end": 23}], "disease": [{"text": "tumor initiation", "start": 101, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In PCOS patients, visceral HSD11B1 expression correlated positively with waist circumference (p = 0. 001), BMI (p = 0. 002), plasma insulin (p < 0. 05), systolic blood pressure (p = 0. 003), and lipoprotein lipase (LPL), hormone-sensitive lipase (LIPE) and peroxisome-proliferator activated receptor γ gene expression.", "output": {"entities": {"gene": [{"text": "LIPE", "start": 247, "end": 251}], "disease": [{"text": "systolic blood pressure", "start": 153, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The European at-risk alleles at five loci including GNPDA2, BCDIN3D/FAIM2, SH2B1, FTO, and KCTD15 were significantly associated with increased body mass index (BMI), waist circumference (4. 5 x 10 (-8) < P < 0. 024), and/or obesity risk (odds ratio 1. 14-1. 22, 2. 0 x 10 (-5) < P < 0. 002) in our Chinese populations.", "output": {"entities": {"gene": [{"text": "BCDIN3D", "start": 60, "end": 67}], "disease": [{"text": "body mass index", "start": 143, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION: Methylation changes of GFRA1, SRF, and ZNF382 may be a potential biomarker set for prediction of gastric carcinoma metastasis.", "output": {"entities": {"gene": [{"text": "GFRA1", "start": 35, "end": 40}], "disease": [{"text": "gastric carcinoma", "start": 109, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Analgesia requires repeated administrations of ALC, suggesting that the drug regulates neuroplasticity across the pain neuraxis.", "output": {"entities": {"gene": [{"text": "ALC", "start": 47, "end": 50}], "disease": [{"text": "pain", "start": 114, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Mice hemizygous for the knockin allele (EA2/-mice) did exhibit motor dysfunction measurable by rotarod and pole test.", "output": {"entities": {"gene": [{"text": "EA2", "start": 40, "end": 43}], "disease": [{"text": "motor dysfunction", "start": 63, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.", "output": {"entities": {"gene": [{"text": "SPRTN", "start": 13, "end": 18}], "disease": [{"text": "genomic instability", "start": 63, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SPRTN", "start": 13, "end": 18}, "tail": {"text": "genomic instability", "start": 63, "end": 82}}]}}, "schema": []}
{"input": "Several mutations have been described in the human androgen receptor gene including constitutional mutations in androgen insensitivity syndrome, somatic mutations in prostate cancer and triplet expansions in Kennedy' s disease (Gottlieb et al. 1997).", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 51, "end": 68}], "disease": [{"text": "androgen insensitivity syndrome", "start": 112, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 51, "end": 68}, "tail": {"text": "androgen insensitivity syndrome", "start": 112, "end": 143}}]}}, "schema": []}
{"input": "The qRT-PCR results confirmed that 17 of the 66 selected genes, which were up-or down-regulated more than 10-fold by miR-197, were consistent with the microarray results, including tumorigenesis-related genes, such as DRT7, SLC549, SFMBT2, FLJ37956, FBLN2, C10orf35, HOXD12, CACNG7, and LOC100134279.", "output": {"entities": {"gene": [{"text": "FBLN2", "start": 250, "end": 255}], "disease": [{"text": "tumorigenesis", "start": 181, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Thus, the hitherto uncharacterized ZKSCAN3 adds to an expanding set of encoded products contributing to the progression of colorectal cancer.", "output": {"entities": {"gene": [{"text": "ZKSCAN3", "start": 35, "end": 42}], "disease": [{"text": "colorectal cancer", "start": 123, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZKSCAN3", "start": 35, "end": 42}, "tail": {"text": "colorectal cancer", "start": 123, "end": 140}}]}}, "schema": []}
{"input": "We describe a syndrome of thrombocytopenia, bleeding episodes, congenital heart disease and facial dysmorphism in a newborn infant, and trace the cause to mutations on chromosome 22 that involve the gene for platelet glycoprotein Ib beta (GPIb beta, Human Genome Organisation gene symbol GPIBB), a critical component of the von Willebrand factor (vWF) receptor.", "output": {"entities": {"gene": [{"text": "GPIBB", "start": 288, "end": 293}], "disease": [{"text": "thrombocytopenia", "start": 26, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPIBB", "start": 288, "end": 293}, "tail": {"text": "thrombocytopenia", "start": 26, "end": 42}}]}}, "schema": []}
{"input": "Plakoglobin-dependent disruption of the desmosomal plaque in pemphigus vulgaris.", "output": {"entities": {"gene": [{"text": "Plakoglobin", "start": 0, "end": 11}], "disease": [{"text": "pemphigus vulgaris", "start": 61, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "FISH analysis confirmed a disease-associated germinal deletion on 22q which encompassed the NEFH locus, which is known to be very closely linked to NF2, but did not extend as far as the proximal Ewing sarcoma region or the distal leukaemia factor (LIF) locus.", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "leukaemia", "start": 230, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "To understand the relationship between Trx and hypoxia-induced angiogenesis, we observed the expression level of VEGF and hypoxia-inducible factor-1alpha (HIF-1alpha) after transfection of Trx.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 113, "end": 117}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "NGF expression was lower in the F1 liver fibrosis stage, and p75NTR receptor expression continuously and proportionately increased compared to the increase in the degree of fibrosis and was significantly higher in livers in fibrosis stages 3 and 4.", "output": {"entities": {"gene": [{"text": "NGF", "start": 0, "end": 3}], "disease": [{"text": "fibrosis", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "DEC1 expression is found in the majority of 1p-aberrant oligodendroglial neoplasms and does not correlate with necrosis or expression of HIF-1alpha, CA9, VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 154, "end": 158}], "disease": [{"text": "necrosis", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 44, "end": 65}], "disease": [{"text": "Fabry disease", "start": 0, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 44, "end": 65}, "tail": {"text": "Fabry disease", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "In this study, transfection of siRNA against-9/+ 10 bp (siH3), but not-174/-155 bp (siH1) or-134/-115 bp (siH2) region relative to transcription start site (TSS) locating at 101 bp upstream of the translation start site, resulted in TGS of heparanase in human prostate cancer, bladder cancer, and gastric cancer cells in a sequence-specific manner.", "output": {"entities": {"gene": [{"text": "TGS", "start": 233, "end": 236}], "disease": [{"text": "gastric cancer", "start": 297, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "In this study, we reported that, in wild-type retinas, somatostatin, the multireceptor ligand pasireotide and the sst (2) agonist octreotide decreased ischaemia-induced cell death and that octreotide also decreased glutamate release.", "output": {"entities": {"gene": [{"text": "somatostatin", "start": 55, "end": 67}], "disease": [{"text": "ischaemia", "start": 151, "end": 160}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "somatostatin", "start": 55, "end": 67}, "tail": {"text": "ischaemia", "start": 151, "end": 160}}]}}, "schema": []}
{"input": "Foxp3 (-/ATT) polymorphism contributes to the susceptibility of preeclampsia.", "output": {"entities": {"gene": [{"text": "Foxp3", "start": 0, "end": 5}], "disease": [{"text": "preeclampsia", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that Aldh3a1 knockout mice in a C57B6/129sV mixed genetic background develop lens cataracts.", "output": {"entities": {"gene": [{"text": "Aldh3a1", "start": 30, "end": 37}], "disease": [{"text": "cataracts", "start": 107, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Aldh3a1", "start": 30, "end": 37}, "tail": {"text": "cataracts", "start": 107, "end": 116}}]}}, "schema": []}
{"input": "This was lower than the prevalence of abnormalities in the exons of the PRSS1 gene (51. 92%): 12 patients with c. 361 G--> A, eight patients with c. 415 T--> A, and five patients with c. 365G--> A.", "output": {"entities": {"gene": [{"text": "PRSS1 gene", "start": 72, "end": 82}], "disease": [{"text": "abnormalities", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "An important diagnostic feature of MMR-deficient tumors is the high rate of mutations that accumulate in repetitive nucleotide regions, and these mutations are known as microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 35, "end": 38}], "disease": [{"text": "microsatellite instability", "start": 169, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "We discuss the roles of BubR1 in the SAC and the implications of BubR1-mediated interactions that protect against aneuploidy.", "output": {"entities": {"gene": [{"text": "SAC", "start": 37, "end": 40}], "disease": [{"text": "aneuploidy", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We report that GRP-R regulates glucose metabolism in neuroblastoma by modulating HIF-1α, PDK4 and PDP2.", "output": {"entities": {"gene": [{"text": "PDP2", "start": 98, "end": 102}], "disease": [{"text": "neuroblastoma", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In our study, we report the discovery of six novel missense mutations in the TUBB3 gene, including one fetal case and one homozygous variation, in nine patients that all share cortical disorganization, axonal abnormalities associated with pontocerebellar hypoplasia, but with no ocular motility defects, CFEOM3.", "output": {"entities": {"gene": [{"text": "CFEOM3", "start": 304, "end": 310}], "disease": [{"text": "pontocerebellar hypoplasia", "start": 239, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the findings suggest that ZNRD1 could act as a modulator of methotrexate chemotherapy in gastric cancer cells through the regulation of IMPDH2 and Bcl-2.", "output": {"entities": {"gene": [{"text": "ZNRD1", "start": 42, "end": 47}], "disease": [{"text": "gastric cancer", "start": 105, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZNRD1", "start": 42, "end": 47}, "tail": {"text": "gastric cancer", "start": 105, "end": 119}}]}}, "schema": []}
{"input": "Blockage of LIF expression or biological function can inhibit in vitro growth and induce differentiation-like phenotypes of medulloblastoma cells (Med-3), suggesting a redifferentiation potential of Med-3 cells when intrinsic dedifferentiation factor (s) is suppressed or external differentiation element (s) is exerted.", "output": {"entities": {"gene": [{"text": "LIF", "start": 12, "end": 15}], "disease": [{"text": "dedifferentiation", "start": 226, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.", "output": {"entities": {"gene": [{"text": "PAH", "start": 38, "end": 41}], "disease": [{"text": "phenylketonuria", "start": 120, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAH", "start": 38, "end": 41}, "tail": {"text": "phenylketonuria", "start": 120, "end": 135}}]}}, "schema": []}
{"input": "Decreased BDNF, trkB-TK + and GAD67 mRNA expression in the hippocampus of individuals with schizophrenia and mood disorders.", "output": {"entities": {"gene": [{"text": "GAD67", "start": 30, "end": 35}], "disease": [{"text": "mood disorders", "start": 109, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAD67", "start": 30, "end": 35}, "tail": {"text": "mood disorders", "start": 109, "end": 123}}]}}, "schema": []}
{"input": "In support of our prediction, GPR52 knockout and transgenic mice exhibited psychosis-related and antipsychotic-like behaviors, respectively.", "output": {"entities": {"gene": [{"text": "GPR52", "start": 30, "end": 35}], "disease": [{"text": "psychosis", "start": 75, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPR52", "start": 30, "end": 35}, "tail": {"text": "psychosis", "start": 75, "end": 84}}]}}, "schema": []}
{"input": "Together, these results suggest that elevated SRPK1 expression may play a role in ovarian tumorigenesis and SRPK1 may be a potential target for ovarian cancer therapy.", "output": {"entities": {"gene": [{"text": "SRPK1", "start": 46, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "These results identify a miRNA that targets both FGF2 and VEGFA in cancers, demonstrate the anti-angiogenesis role of miR-503 in tumorigenesis, and provide a novel mechanism for hypoxia-induced FGF2 and VEGFA through HIF1α-mediated inhibition of miR-503.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 58, "end": 63}], "disease": [{"text": "hypoxia", "start": 178, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe the methods of the IRAS Family Study, which was designed to identify the genetic and environmental risk factors for insulin resistance and visceral adiposity.", "output": {"entities": {"gene": [{"text": "IRAS", "start": 47, "end": 51}], "disease": [{"text": "insulin resistance", "start": 144, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The primary SS patients fall into two distinct groups: those with extraglandular disease in whom lymphopaenia, hypergammaglobulinaemia, antibodies to Ro and/or La and HLA DR3 were all more frequent and those patients with either glandular disease alone or only one extraglandular feature.", "output": {"entities": {"gene": [{"text": "DR3", "start": 171, "end": 174}], "disease": [{"text": "hypergammaglobulinaemia", "start": 111, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The product of the Wilson disease gene is a copper transporting P-type ATPase (ATP7B).", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 79, "end": 84}], "disease": [{"text": "Wilson disease", "start": 19, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 79, "end": 84}, "tail": {"text": "Wilson disease", "start": 19, "end": 33}}]}}, "schema": []}
{"input": "These syndromes include congenital PNH (such as inherited complete CD59 deficiency and PNH with PIG-M mutations), because complement-mediated hemolysis and thrombosis are observed in association with defects of various factors associated with the complement regulatory pathway, including biosynthesis of the glycosylphosphatidylinositol (GPI) anchor.", "output": {"entities": {"gene": [{"text": "GPI", "start": 338, "end": 341}], "disease": [{"text": "hemolysis", "start": 142, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "All four GNA11 mutations predicted disrupted protein structures, and assessment on the basis of in vitro expression showed that familial hypocalciuric hypercalcemia type 2-associated mutations decreased the sensitivity of cells expressing calcium-sensing receptors to changes in extracellular calcium concentrations, whereas autosomal dominant hypocalcemia type 2-associated mutations increased cell sensitivity.", "output": {"entities": {"gene": [{"text": "GNA11", "start": 9, "end": 14}], "disease": [{"text": "autosomal dominant hypocalcemia", "start": 325, "end": 356}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNA11", "start": 9, "end": 14}, "tail": {"text": "autosomal dominant hypocalcemia", "start": 325, "end": 356}}]}}, "schema": []}
{"input": "However, it is unknown to what extent ClC-7 function has to be reduced to become rate-limiting for bone resorption.", "output": {"entities": {"gene": [{"text": "ClC-7", "start": 38, "end": 43}], "disease": [{"text": "bone resorption", "start": 99, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Increased airway epithelial cell expression of CGRP, together with increased CCL17 expression, was previously observed in a model of provoked asthma in atopic human subjects.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 47, "end": 51}], "disease": [{"text": "atopic", "start": 152, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "We identify a total of 97 SMGs, including 70 not previously implicated in prostate cancer, such as the ubiquitin ligase CUL3 and the transcription factor SPEN.", "output": {"entities": {"gene": [{"text": "SPEN", "start": 154, "end": 158}], "disease": [{"text": "prostate cancer", "start": 74, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SPEN", "start": 154, "end": 158}, "tail": {"text": "prostate cancer", "start": 74, "end": 89}}]}}, "schema": []}
{"input": "We further show that G-richness does not characterize translocation breakpoints in AID-negative B-and T-cell malignancies.", "output": {"entities": {"gene": [{"text": "AID", "start": 83, "end": 86}], "disease": [{"text": "translocation", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "IFN-gamma genotype was related to severity of lower respiratory illness, duration of ICU stay, and frequency of otitis media.", "output": {"entities": {"gene": [{"text": "IFN", "start": 0, "end": 3}], "disease": [{"text": "otitis media", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the expression of the miR-200b gene targets ZEB1/2, GATA2, and KDR was confirmed by qRT-PCR as being lower in obese patients with periodontitis versus normal weight patients, suggesting a role of miR-200b in regulation of a set of gene targets and biological pathways relevant to wound healing and angiogenesis.", "output": {"entities": {"gene": [{"text": "KDR", "start": 76, "end": 79}], "disease": [{"text": "obese", "start": 123, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Dermatopontin (DPT) was recently found as a downstream target of vitamin D receptor, which is a key molecule in the 1, 25-dihydroxy-vitamin D (3) anti-hepatoma proliferation pathway.", "output": {"entities": {"gene": [{"text": "DPT", "start": 15, "end": 18}], "disease": [{"text": "hepatoma", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).", "output": {"entities": {"gene": [{"text": "P4HTM", "start": 27, "end": 32}], "disease": [{"text": "intellectual disability", "start": 81, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P4HTM", "start": 27, "end": 32}, "tail": {"text": "intellectual disability", "start": 81, "end": 104}}]}}, "schema": []}
{"input": "To test whether PPT could restore ligand-dependent receptor activation, ENERKI females were treated with PPT and evaluated for spontaneous ovulation, ovarian hemorrhagic cysts, and LH serum levels.", "output": {"entities": {"gene": [{"text": "PPT", "start": 16, "end": 19}], "disease": [{"text": "cysts", "start": 170, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Within the hypothalamus, NPY plays an essential role in the control of food intake and body weight.", "output": {"entities": {"gene": [{"text": "NPY", "start": 25, "end": 28}], "disease": [{"text": "body weight", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The expression of mPGES-1 was strongly up-regulated in the brain and spinal cord during inflammation, whereas no change was detected for the expression of cPGES, mPGES-2, COX-1, and terminal PGD, TX, or PGI synthases.", "output": {"entities": {"gene": [{"text": "cPGES", "start": 155, "end": 160}], "disease": [{"text": "inflammation", "start": 88, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that an impaired DDR and DNA repair may contribute to the pathogenesis of neurodegenerative diseases linked to FUS mutations.", "output": {"entities": {"gene": [{"text": "DDR", "start": 38, "end": 41}], "disease": [{"text": "neurodegenerative diseases", "start": 95, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "However, the effect of hypoxia-induced ADM expression in bladder cancer remains unclear.", "output": {"entities": {"gene": [{"text": "ADM", "start": 39, "end": 42}], "disease": [{"text": "hypoxia", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "The TNFA * 2 allele is associated with a higher risk for the development of atopy (risk ratio = 9. 44; EF = 0. 65; chi2 = 30. 06 p < 0. 0005).", "output": {"entities": {"gene": [{"text": "TNFA", "start": 4, "end": 8}], "disease": [{"text": "atopy", "start": 76, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Consequently, it is not unexpected that EMT has profound impacts on the neoplastic progression, patient survival, as well as the resistance of cancers to therapeutics (taxol, vincristine, oxaliplatin, EGF-R targeted therapy and radiotherapy), independent of the \" classical \" resistance mechanisms linked to genotoxic drugs.", "output": {"entities": {"gene": [{"text": "EMT", "start": 40, "end": 43}], "disease": [{"text": "neoplastic progression", "start": 72, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Affected sibling pair families (n = 120), nuclear families (n = 645) and cohorts of sporadic cases (n = 208) and controls (n = 1381) were genotyped for androgen receptor gene exon 1 CAG repeat polymorphism.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 152, "end": 174}], "disease": [{"text": "sporadic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Two linked silent dimorphisms, 807 C--> T (Phe224) and 873 G--> A (Thr246) within the glycoprotein Ia (GPIa) gene have been correlated with low and high platelet receptor density, respectively, and associated with vascular disease.", "output": {"entities": {"gene": [{"text": "glycoprotein Ia", "start": 86, "end": 101}], "disease": [{"text": "vascular disease", "start": 214, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Translocations were mutually exclusive and were detected in 26% of cases (17% API2-MALT1, 5% IGH-MALT1, 3% IGH-unknown translocation partner, and 1% IGH-BCL10).", "output": {"entities": {"gene": [{"text": "MALT1", "start": 83, "end": 88}], "disease": [{"text": "translocation", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "ACSF3 mutant alleles occur with a minor allele frequency of 0. 0058 in & #8764; 1, 000 control individuals, predicting a CMAMMA population incidence of & #8764; 1: 30, 000.", "output": {"entities": {"gene": [{"text": "ACSF3", "start": 0, "end": 5}], "disease": [{"text": "CMAMMA", "start": 121, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACSF3", "start": 0, "end": 5}, "tail": {"text": "CMAMMA", "start": 121, "end": 127}}]}}, "schema": []}
{"input": "A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.", "output": {"entities": {"gene": [{"text": "PLP", "start": 43, "end": 46}], "disease": [{"text": "Pelizaeus-Merzbacher disease", "start": 77, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLP", "start": 43, "end": 46}, "tail": {"text": "Pelizaeus-Merzbacher disease", "start": 77, "end": 105}}]}}, "schema": []}
{"input": "We conclude that administration of PHC at the time of a systemic insult can protect the lung from the damaging effects of sepsis.", "output": {"entities": {"gene": [{"text": "PHC", "start": 35, "end": 38}], "disease": [{"text": "sepsis", "start": 122, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "EC exhibited higher expression levels of markers of oxidative stress (lipid peroxydation level and caveolin-1 mRNA), inflammation (angiopoietin-like 2 mRNA), hypoxia (vascular endothelial growth factor (VEGF)-A mRNA), and cell damage (p53 mRNA).", "output": {"entities": {"gene": [{"text": "angiopoietin-like 2", "start": 131, "end": 150}], "disease": [{"text": "inflammation", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene encoding fused-in-sarcoma (FUS) have been identified in a subset of patients with sporadic and familial amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "FUS", "start": 49, "end": 52}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Mothers who consumed caffeine, oxidized CYP1A2 * 1F quickly, and acetylized NAT2 slowly had a nonsignificantly elevated estimated risk for an NTD-affected pregnancy (OR, 3. 10; 95% CI, 0. 86-11. 21).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 76, "end": 80}], "disease": [{"text": "NTD", "start": 142, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NAT2", "start": 76, "end": 80}, "tail": {"text": "NTD", "start": 142, "end": 145}}]}}, "schema": []}
{"input": "ELOVL5 mutations cause spinocerebellar ataxia 38.", "output": {"entities": {"gene": [{"text": "ELOVL5", "start": 0, "end": 6}], "disease": [{"text": "spinocerebellar ataxia 38", "start": 23, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ELOVL5", "start": 0, "end": 6}, "tail": {"text": "spinocerebellar ataxia 38", "start": 23, "end": 48}}]}}, "schema": []}
{"input": "Although the granulocyte nadirs were significantly lower at each 5-FU dose level with the concurrent GM-CSF schedule (eg, 490 mg/m2/d: median, 879/microL v3, 286/microL; two-tailed P [P2] & lt;. 001), dose-limiting granulocytopenia complicated & lt; or = 16% of cycles with 5-FU & lt; or = 560 mg/m2/d (99 cycles); & gt; or = grade 3 mucositis occurred in & lt; or = 20% of cycles.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 101, "end": 107}], "disease": [{"text": "mucositis", "start": 334, "end": 343}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GM-CSF", "start": 101, "end": 107}, "tail": {"text": "mucositis", "start": 334, "end": 343}}]}}, "schema": []}
{"input": "These results indicate that TGF-beta/Smad signaling may be involved in the remodeling of the infarct scar after the completion of wound healing per se, via ongoing stimulation of matrix deposition.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 28, "end": 36}], "disease": [{"text": "infarct", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Expression of HIF1alpha, VEGF, and another hypoxia-responsive gene, glucose transporter-1, was assessed in the irradiated rat spinal cord using immunohistochemistry and in situ hybridization.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 25, "end": 29}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We have analysed 10 single nucleotide polymorphisms in DRD2, DRD4 and DAT1/SLC6A3 genes in relation to lung cancer risk in a case-control study of smoking subjects.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 55, "end": 59}], "disease": [{"text": "smoking", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Overall, 82. 9% of children with Gram-negative bacterial infections were accompanied by marked increases of IL-6 and IL-10 levels [> 10 times (means ± SD)], whereas only a mild increase of IL-6 levels occurred in Gram-positive bacteria-infected children [> 2 times (means ± SD)] and only a mild increase of IFN-γ levels occurred in fungal culture-positive children [> 2 times (means ± SD)].", "output": {"entities": {"gene": [{"text": "IL-10", "start": 117, "end": 122}], "disease": [{"text": "mild", "start": 172, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "For some caspases (CASP1, CASP6 and CASP7) these correlations could be related to brain aging.", "output": {"entities": {"gene": [{"text": "CASP7", "start": 36, "end": 41}], "disease": [{"text": "aging", "start": 88, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Traditionally, it is believed that PHM carries a better prognosis and rarely develops metastasis.", "output": {"entities": {"gene": [{"text": "PHM", "start": 35, "end": 38}], "disease": [{"text": "metastasis", "start": 86, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Forty consecutive patients with Brugada-pattern electrocardiogram (ECG) underwent comprehensive genetic analysis of BrS-causing genes including SCN5A, SCN1B, SCN3B, CACNA1C, CACNB2, KCNE3 and KCNE5.", "output": {"entities": {"gene": [{"text": "KCNE3", "start": 182, "end": 187}], "disease": [{"text": "BrS", "start": 116, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCNE3", "start": 182, "end": 187}, "tail": {"text": "BrS", "start": 116, "end": 119}}]}}, "schema": []}
{"input": "Thus, all of the abnormalities represent neutral polymorphisms, and not pathological mutations of the FSH receptor gene.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 102, "end": 114}], "disease": [{"text": "abnormalities", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we aimed to evaluate the expression of CD11b and CD45 adhesion molecules in peripheral blood granulocytes, monocytes and lymphocytes from the patients with coronary artery ectasia as possible indicators of inflammation.", "output": {"entities": {"gene": [{"text": "CD45", "start": 71, "end": 75}], "disease": [{"text": "adhesion", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Of the 26 patients with autoimmune hepatitis, anti-HCV were detected in 23 patients (88%; CI, 70% to 98%) by ELISA-I, in 12 (46%) by both RIA-I and Sp42 ELISA, in 20 (77%) by ELISA-II, and in 9 (35%) by RIBA-II.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 203, "end": 207}], "disease": [{"text": "autoimmune hepatitis", "start": 24, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "By using a refined microarray screening approach we present three genes with cancer-specific hypermethylation in colorectal tumors, ADAMTS1, CRABP1, and NR3C1.", "output": {"entities": {"gene": [{"text": "NR3C1", "start": 153, "end": 158}], "disease": [{"text": "colorectal tumors", "start": 113, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We genotyped 656 patients with esophageal squamous cell carcinoma (ESCC) and 656 controls for the polymorphism to examine the hypothesis that the STK15 variation may affect individual susceptibility to the occurrence and aggression of ESCC.", "output": {"entities": {"gene": [{"text": "STK15", "start": 146, "end": 151}], "disease": [{"text": "aggression", "start": 221, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "More than 95% of unrelated patients have ferrochelatase (FECH) deficiency (MIM 177000) while about 2% have X-linked dominant protoporphyria (XLDPP) (MIM 300752) caused by gain-of-function mutations in the ALAS2 gene.", "output": {"entities": {"gene": [{"text": "MIM", "start": 75, "end": 78}], "disease": [{"text": "protoporphyria", "start": 125, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In 219 nonobese, normotensive, normouricemic (serum UA < 6. 5 mg/dL at entry) men, serum UA, plasma norepinephrine (NE), the homeostasis model assessment of insulin resistance (HOMA-IR), body mass index, total body fat mass, the alpha2A (Lys418Asn)-, beta2 (Arg16Gly, Gln27Glu)-, and beta3 (Trp64Arg)-adrenoceptor polymorphisms were measured annually over 5 years.", "output": {"entities": {"gene": [{"text": "beta2", "start": 251, "end": 256}], "disease": [{"text": "body mass index", "start": 187, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "The proteinase-activated receptor PAR (2) has been demonstrated to modulate tumor growth, invasion and metastasis in various tissues.", "output": {"entities": {"gene": [{"text": "PAR", "start": 34, "end": 37}], "disease": [{"text": "metastasis", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 43, "end": 47}], "disease": [{"text": "WS-III", "start": 77, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX3", "start": 43, "end": 47}, "tail": {"text": "WS-III", "start": 77, "end": 83}}]}}, "schema": []}
{"input": "MMP-9 agonist and anti-miR‑15b reduced the curative effects of mangiferin in the U87 glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 81, "end": 84}], "disease": [{"text": "glioma", "start": 85, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In ten independent cases of Denys-Drash syndrome, point mutations in the zinc finger domains of one WT1 gene copy were found.", "output": {"entities": {"gene": [{"text": "WT1", "start": 100, "end": 103}], "disease": [{"text": "Denys-Drash syndrome", "start": 28, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WT1", "start": 100, "end": 103}, "tail": {"text": "Denys-Drash syndrome", "start": 28, "end": 48}}]}}, "schema": []}
{"input": "We evaluated miR-126 expression, the subsequent HIF-1α and VEGF modulation, Ang-2 and PDGF signalling pathways in human retinal pericytes (HRP) after exposure to MSC-derived EV obtained in diabetic-like conditions (high glucose and/or hypoxia).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 59, "end": 63}], "disease": [{"text": "hypoxia", "start": 235, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "The t (1; 19) chromosomal translocation in acute lymphoblastic pre-B cell leukemias involves the gene E2A for helix-loop-helix (HLH) proteins E12 and E47, ubiquitous transcriptional proteins implicated in the regulation of various lymphoid and nonlymphoid genes.", "output": {"entities": {"gene": [{"text": "E12", "start": 142, "end": 145}], "disease": [{"text": "chromosomal translocation", "start": 14, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found that DJ-1 was overexpressed in acute leukemia (AL) patient samples and leukemia cell lines, which gave the first clue that DJ-1 overexpression might be involved in leukemogenesis and/or disease progression of AL.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 29, "end": 33}], "disease": [{"text": "leukemogenesis", "start": 188, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "PSMA-VRP is a propagation defective, viral replicon vector system encoding PSMA under phase I evaluation for patients with castration resistant metastatic prostate cancer (CRPC).", "output": {"entities": {"gene": [{"text": "VRP", "start": 5, "end": 8}], "disease": [{"text": "metastatic prostate cancer", "start": 144, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "We hypothesised that functional polymorphisms in CCR5 and CCL5 influence perivascular leukocyte infiltration, inflammation, axonal loss, and remyelination, and disease course.", "output": {"entities": {"gene": [{"text": "CCR5", "start": 49, "end": 53}], "disease": [{"text": "axonal loss", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "We found two pathogenic LGI1 mutations with uncommonly low penetrance: the R136W mutation, previously detected in a sporadic case with telephone-induced partial seizures, gave rise to the epileptic phenotype in three of nine mutation carriers in one family; the novel C179R mutation caused epilepsy in an isolated patient from a family where the mutation segregated.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 24, "end": 28}], "disease": [{"text": "sporadic", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "This study investigated the expressions and regulation of GRAIL in CD and murine colitis models.", "output": {"entities": {"gene": [{"text": "GRAIL", "start": 58, "end": 63}], "disease": [{"text": "colitis", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Putative ATP1A1-NKCC2 gene interaction was tested by comparing hypertensive patients (blood pressure [BP] > 165/95 mm Hg) with normotensive controls age > 60 years with BP < 140/85 mm Hg.", "output": {"entities": {"gene": [{"text": "ATP1A1", "start": 9, "end": 15}], "disease": [{"text": "blood pressure", "start": 86, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that intrarenal granulomas in urate nephropathy may be the consequence of a crystal induced DTH reaction mediated by MIF.", "output": {"entities": {"gene": [{"text": "MIF", "start": 136, "end": 139}], "disease": [{"text": "granulomas", "start": 35, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Prolactin levels fell from more than 2, 000 ng/ml to 340 ng/ml following infarction of the pituitary tumor.", "output": {"entities": {"gene": [{"text": "Prolactin", "start": 0, "end": 9}], "disease": [{"text": "infarction", "start": 73, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Prolactin", "start": 0, "end": 9}, "tail": {"text": "infarction", "start": 73, "end": 83}}]}}, "schema": []}
{"input": "The prevalence of PVR and retinal detachment was determined by indirect ophthalmoscopy on days 3, 7, 14, and 21 after the injection of rAd-p21 into the vitreous.", "output": {"entities": {"gene": [{"text": "p21", "start": 139, "end": 142}], "disease": [{"text": "retinal detachment", "start": 26, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "In asymptomatic transgenic mSOD1 mice, expression of Bcl-2, Bcl-XL, Bad, and Bax does not differ from that in nontransgenic mice.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 53, "end": 58}], "disease": [{"text": "asymptomatic", "start": 3, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that DNA variants affecting neurodevelopment such as rs4307059 (CDH10/CDH9), rs930752 (NRXN1), rs6265 (BDNF) or rs10868235 (NTRK2) may predispose to completed suicide.", "output": {"entities": {"gene": [{"text": "NRXN1", "start": 103, "end": 108}], "disease": [{"text": "suicide", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Studies in mammalian cells suggest that dysregulated SAC function, centrosome cycle, and cytokinesis can all contribute significantly to aneuploidy.", "output": {"entities": {"gene": [{"text": "SAC", "start": 53, "end": 56}], "disease": [{"text": "aneuploidy", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the role of p53/p16 (INK4a)/RB1 pathways in the tumorigenesis of primary central nervous system lymphomas (PCNSLs), we have analyzed p14 (ARF), p16 (INK4a), RB1, p21 (Waf1), and p27 (Kip1) status in a series of their 18 sporadic cases of diffuse large B-cell lymphoma, using methylation-specific PCR, differential PCR, and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "p27", "start": 191, "end": 194}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Seventeen genes (ABL, APC, APAF1, BRCA1, CSPG2, DAPK1, hMLH1, LKB1, PTEN, p14ARF, p15INK4b, p27KIP1, p57KIP2, RASSF1C, RB1, SURVIVIN, and VHL) displayed a uniformly unmethylated pattern in all the astrocytoma and non-astrocytoma tissues examined.", "output": {"entities": {"gene": [{"text": "DAPK1", "start": 48, "end": 53}], "disease": [{"text": "astrocytoma", "start": 197, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Univariate analysis revealed that age, gender, weight, atrial fibrillation, deep vein thrombosis/pulmonary embolism and variant genotypes of CYP2C9 and VKORC1 loci were significantly associated with warfarin dose in the studied patient population.", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 141, "end": 147}], "disease": [{"text": "pulmonary embolism", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Recently it has been reported that hypoxia induces VEGF mRNA expression in various cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 51, "end": 55}], "disease": [{"text": "hypoxia", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Thus, our data provide evidence that in sarcoidosis, at the site of granuloma formation, an accumulation of Th1 cells as well as of intermediate (between Th1 and Th0) cell types occurs, whereas in the alveolar lumen, high numbers of Th1 and Th2 cells with a simultaneous decrease of Th0 cells can be observed.", "output": {"entities": {"gene": [{"text": "Th1", "start": 108, "end": 111}], "disease": [{"text": "sarcoidosis", "start": 40, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Multivariable logistic regression analysis showed that the NsiI polymorphism of the exon 8 of the INSR was an independent predictor for MS in Han people adjusted for total cholesterol, sex, physical activity, educational level, family income, alcohol intake and smoking (OR = 2. 55, 95% CI: 1. 31-4. 94, p = 0. 006).", "output": {"entities": {"gene": [{"text": "INSR", "start": 98, "end": 102}], "disease": [{"text": "smoking", "start": 262, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Specifically, mice of any genotype suckled on ZnT4-deficient mice fail to absorb intestinal zinc and ZnT4-deficient mice also develop dermatitis, alopecia and stunted growth.", "output": {"entities": {"gene": [{"text": "ZnT4", "start": 46, "end": 50}], "disease": [{"text": "alopecia", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The low MVD, increased HIF-1alpha protein levels, dissociation of hypoxia, and TP53 protein induction in the metastatic tumor cells (AN3CA) support a role for hypoxia in the development of recurrent endometrial carcinoma.", "output": {"entities": {"gene": [{"text": "MVD", "start": 8, "end": 11}], "disease": [{"text": "recurrent endometrial carcinoma", "start": 189, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "This finding provides novel insight into the potential of MCP-1 in the development of novel therapeutic strategies for silicosis.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 58, "end": 63}], "disease": [{"text": "silicosis", "start": 119, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCP-1", "start": 58, "end": 63}, "tail": {"text": "silicosis", "start": 119, "end": 128}}]}}, "schema": []}
{"input": "Since PAX5 is essential for B-cell differentiation, this translocation may account for the blockage of leukemic cells at the pre-B-cell stage.", "output": {"entities": {"gene": [{"text": "PAX5", "start": 6, "end": 10}], "disease": [{"text": "pre-B", "start": 125, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX5", "start": 6, "end": 10}, "tail": {"text": "pre-B", "start": 125, "end": 130}}]}}, "schema": []}
{"input": "We correlated the TLE1 expression with the t (X; 18) translocation and other established biomarkers (EMA, PanCK, CK7, CD34 and BCL2).", "output": {"entities": {"gene": [{"text": "BCL2", "start": 127, "end": 131}], "disease": [{"text": "translocation", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Lynch syndrome (LS), the most common form of familial CRC predisposition that causes tumor onset at a young age, is characterized by the presence of microsatellite instability (MSI) in tumors due to germline inactivation of mismatch repair (MMR) system.", "output": {"entities": {"gene": [{"text": "MMR", "start": 241, "end": 244}], "disease": [{"text": "microsatellite instability", "start": 149, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Recently, molecular genetic studies have shown that this translocation results in the fusion of the API2 gene on chromosome 11 and a novel gene termed MALT1 on chromosome 18.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 151, "end": 156}], "disease": [{"text": "translocation", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "To date, more than 40 different GFAP mutations have been reported in AD.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 32, "end": 36}], "disease": [{"text": "AD", "start": 69, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 32, "end": 36}, "tail": {"text": "AD", "start": 69, "end": 71}}]}}, "schema": []}
{"input": "The AGE-induced increases in VEGF expression were dose-and time-dependent, inhibited by antioxidants, and additive with hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 29, "end": 33}], "disease": [{"text": "hypoxia", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Retinoic acid (RA) is a key regulator of embryonic development and linked to several birth defects including cleft lip and palate (CLP).", "output": {"entities": {"gene": [{"text": "CLP", "start": 131, "end": 134}], "disease": [{"text": "birth defects", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Several members of the Wnt-signaling pathway and gene sets related to hypoxia, epithelial-to-mesenchymal transition (EMT) and transforming growth factor-β (TGFβ) pathway activation were induced in CAFs.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 156, "end": 160}], "disease": [{"text": "hypoxia", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In addition, PPARγ partially rescued hypoxia-induced inhibition of labyrinthine differentiation in wild-type TS cells but was not required for hypoxia-induced inhibition of TGC differentiation.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 13, "end": 18}], "disease": [{"text": "hypoxia", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Also, when we compare the FEP patients after risperidone treatment with controls, this difference remains significant, and no significant differences were observed in GCH1 mRNA levels when comparing patients before and after risperidone treatment.", "output": {"entities": {"gene": [{"text": "GCH1", "start": 167, "end": 171}], "disease": [{"text": "FEP", "start": 26, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GCH1", "start": 167, "end": 171}, "tail": {"text": "FEP", "start": 26, "end": 29}}]}}, "schema": []}
{"input": "However, PU. 1 translocation into the nucleus was significantly higher in CF monocytes than in controls, suggesting a role for this transcription factor in the control of TREM-1 expression.", "output": {"entities": {"gene": [{"text": "TREM-1", "start": 171, "end": 177}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the oncogenic effect of the t (3; 9) translocation may be due to the TFG-TEC chimeric protein and that fusion of the TFG (NTD) to the TEC protein produces a gain-of-function chimeric product.", "output": {"entities": {"gene": [{"text": "TFG", "start": 96, "end": 99}], "disease": [{"text": "translocation", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We report here the identification of a missense mutation (T44A) in the human CKIdelta gene, which results in FASPS.", "output": {"entities": {"gene": [{"text": "CKIdelta", "start": 77, "end": 85}], "disease": [{"text": "FASPS", "start": 109, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CKIdelta", "start": 77, "end": 85}, "tail": {"text": "FASPS", "start": 109, "end": 114}}]}}, "schema": []}
{"input": "Therefore, we have focused our investigation on matrix metalloproteinases (MMPs), which are degradative enzymes involved in ECM degradation and ECM remodelling, thus likely contributing to the altered bone mineral density and bone metabolism values seen in five MADA patients.", "output": {"entities": {"gene": [{"text": "ECM", "start": 124, "end": 127}], "disease": [{"text": "bone mineral density", "start": 201, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Yet, the mechanisms of regulation between LCN2 with MMP9 in tumorigenesis is unclear.", "output": {"entities": {"gene": [{"text": "LCN2", "start": 42, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Herein, we investigate whether CB1 participates in glomerular proteinuria in CB1 transgenic mice and treatment with CB1 agonist WIN55212-2 rat, neither of which are diabetic models.", "output": {"entities": {"gene": [{"text": "CB1", "start": 31, "end": 34}], "disease": [{"text": "proteinuria", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.", "output": {"entities": {"gene": [{"text": "RAF1", "start": 22, "end": 26}], "disease": [{"text": "Noonan syndrome", "start": 170, "end": 185}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAF1", "start": 22, "end": 26}, "tail": {"text": "Noonan syndrome", "start": 170, "end": 185}}]}}, "schema": []}
{"input": "To determine if the prevalence of 2 prothrombotic genetic factors, factor V Leiden and prothrombin gene mutation, is increased in patients with antiphospholipid (aPL) antibodies with a history of venous/arterial thrombosis compared to patients with aPL antibodies with no history of thrombosis.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 67, "end": 82}], "disease": [{"text": "arterial thrombosis", "start": 203, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "In infants with Down syndrome, concentrations of IL-8 levels were higher than in controls, whether or not corrected for total protein; NT-3 and CGRP were lower and VIP higher.", "output": {"entities": {"gene": [{"text": "VIP", "start": 164, "end": 167}], "disease": [{"text": "Down syndrome", "start": 16, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VIP", "start": 164, "end": 167}, "tail": {"text": "Down syndrome", "start": 16, "end": 29}}]}}, "schema": []}
{"input": "The aim of the study was to investigate the role of MIF in the pulmonary vascular remodeling of hypoxia-induced PH.", "output": {"entities": {"gene": [{"text": "MIF", "start": 52, "end": 55}], "disease": [{"text": "vascular remodeling", "start": 73, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Also, an androgen receptor mutation (testicular feminization mutation [tfm]) was introduced in these rats by crossbreeding male TGR (mREN2) 27 rats with tfm rats.", "output": {"entities": {"gene": [{"text": "TGR", "start": 128, "end": 131}], "disease": [{"text": "testicular feminization", "start": 37, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings suggest that CHD1 deletion may underlie cell invasiveness in a subset of prostate cancers, and indicate a possible novel role of altered chromatin remodeling in prostate tumorigenesis.", "output": {"entities": {"gene": [{"text": "CHD1", "start": 42, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 199, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Antisense oligonucleotides directed at the bcl-xl gene product engender apoptosis in mesothelioma cell lines.", "output": {"entities": {"gene": [{"text": "bcl-xl", "start": 43, "end": 49}], "disease": [{"text": "mesothelioma", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Our results show that in DEN-treated rats, although the progression of liver fibrosis is associated with hepatocellular hypoxia and angiogenesis, VEGF and Flt-1 expressions in the liver are increased and correlated with the density of microvessels.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 146, "end": 150}], "disease": [{"text": "hypoxia", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Thus, increased VPF/VEGF mRNA stability induced by hypoxia is mediated, at least in part, by specific interactions between a defined mRNA stability sequence in the 3' untranslated region and distinct mRNA-binding proteins in human tumor cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 20, "end": 24}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The present study assessed the utility of ABCB1 and NAD (P) H quinone oxidoreductase 1 (NQO1) polymorphism as a predictor of amrubicin-induced neutropenia.", "output": {"entities": {"gene": [{"text": "quinone oxidoreductase", "start": 62, "end": 84}], "disease": [{"text": "neutropenia", "start": 143, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Both the clinical presentations of these two families and the identification of COMP-gene mutations provide evidence of phenotypic overlap between PSACH and MED.", "output": {"entities": {"gene": [{"text": "COMP", "start": 80, "end": 84}], "disease": [{"text": "PSACH", "start": 147, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COMP", "start": 80, "end": 84}, "tail": {"text": "PSACH", "start": 147, "end": 152}}]}}, "schema": []}
{"input": "We aimed to evaluate a diagnostic strategy for LS based on routine analysis of microsatellite instability (MSI) and immunohistochemical (IHC) staining for mismatch repair (MMR) proteins in tumour tissue of all newly diagnosed EC patients ≤ 70 years.", "output": {"entities": {"gene": [{"text": "MMR", "start": 172, "end": 175}], "disease": [{"text": "microsatellite instability", "start": 79, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The RON receptor tyrosine kinase and its ligand macrophage stimulating protein (MSP) play a role in epithelial tumorigenesis.", "output": {"entities": {"gene": [{"text": "MSP", "start": 80, "end": 83}], "disease": [{"text": "tumorigenesis", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We compared DPD activity and DPD mRNA expression in resected tumors between two groups of patients, i. e., a group of 14 patients with advanced gastric cancer who received preoperative chemotherapy (neoadjuvant chemotherapy; NAC) and surgery and a group of 24 patients with advanced gastric cancer who underwent surgery without preoperative chemotherapy.", "output": {"entities": {"gene": [{"text": "NAC", "start": 225, "end": 228}], "disease": [{"text": "gastric cancer", "start": 144, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Subset 1A, characterized by ATF3 and DUSP2, and subset 1B, characterized by EGR3 and MXD1, were shared between BD and SZ patients (up-regulated in 67% and 51%, and 34% and 41%, respectively).", "output": {"entities": {"gene": [{"text": "EGR3", "start": 76, "end": 80}], "disease": [{"text": "BD", "start": 111, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGR3", "start": 76, "end": 80}, "tail": {"text": "BD", "start": 111, "end": 113}}]}}, "schema": []}
{"input": "We examined how ionizing radiation (IR) delivered under either severe hypoxia (< 0. 1% O2) or normoxia affects the expression of hypoxia inducible factor 1alpha (HIF-1alpha) and the angiogenic factors vascular endothelial growth factor (VEGF) and angiopoietins 1, 2 and 4 in U87 human glioblastoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 237, "end": 241}], "disease": [{"text": "hypoxia", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In IgA nephritis, the population of glomerular cells positive for c-Fos and c-Myc and the grade of c-Raf immunoreactivity were significantly correlated with the proportion of proliferating cell nuclear antigen (PCNA)-positive glomerular cells, with histological grading of mesangial hypercellularity and matrix increase, and with the magnitude of proteinuria.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 211, "end": 215}], "disease": [{"text": "nephritis", "start": 7, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.", "output": {"entities": {"gene": [{"text": "EIF2S2", "start": 113, "end": 119}], "disease": [{"text": "breast tumors", "start": 212, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EIF2S2", "start": 113, "end": 119}, "tail": {"text": "breast tumors", "start": 212, "end": 225}}]}}, "schema": []}
{"input": "Treatment successes have been particularly impressive for melanoma with small molecule inhibitors directed against the mutated BRAF oncogene and in basal cell carcinoma with inhibitors directed against the hedgehog signaling pathway.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 127, "end": 131}], "disease": [{"text": "basal cell carcinoma", "start": 148, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Gout was diagnosed by the 1977 ARA gout classification criteria.", "output": {"entities": {"gene": [{"text": "ARA", "start": 31, "end": 34}], "disease": [{"text": "gout", "start": 35, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "An increased frequency of the angiotensin converting enzyme (ACE) D variant has recently been reported in patients with atheromatous renal artery disease (RAD), whereas controversy exists on the risk of coronary artery disease (CAD) associated with this polymorphism.", "output": {"entities": {"gene": [{"text": "RAD", "start": 155, "end": 158}], "disease": [{"text": "renal artery disease", "start": 133, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Schwartz-Jampel syndrome (SJS, MIM 255800), also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia, skeletal abnormalities and facial dysmorphism.", "output": {"entities": {"gene": [{"text": "MIM", "start": 31, "end": 34}], "disease": [{"text": "facial dysmorphism", "start": 191, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Spindle assembly checkpoint (SAC) is a critical cellular mechanism that prevents chromosome missegregation and therefore aneuploidy by blocking premature separation of sister chromatids.", "output": {"entities": {"gene": [{"text": "SAC", "start": 29, "end": 32}], "disease": [{"text": "aneuploidy", "start": 121, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Rats were fed with a control or HFD for 4 or 8 wk, and were then infected with a control or an MFN2 expressing adenovirus once a week for 3 wk starting from the 9 (th) wk.", "output": {"entities": {"gene": [{"text": "MFN2", "start": 95, "end": 99}], "disease": [{"text": "adenovirus", "start": 111, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In female GARP patients with severe familial OA, d3-GHR was associated with OA (adjusted OR 1. 36 (95% CI 1. 01 to 1. 83), p = 0. 043), independently of age and body mass index.", "output": {"entities": {"gene": [{"text": "GARP", "start": 10, "end": 14}], "disease": [{"text": "body mass index", "start": 161, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Recently, a new syndrome characterized by multiple PGLs and somatostatinomas associated with congenital polycythemia due to somatic mutations in HIF2A has been reported.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 51, "end": 55}], "disease": [{"text": "polycythemia", "start": 104, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovirus expression system in Sf9 cells.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 27, "end": 32}], "disease": [{"text": "Wilson disease", "start": 52, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 27, "end": 32}, "tail": {"text": "Wilson disease", "start": 52, "end": 66}}]}}, "schema": []}
{"input": "The incidence of p21 expression by hepatocytes was significantly higher in macronodular cirrhotic patients than in those with micronodular cirrhosis (p less than 0. 05) and tended to be higher in those positive for hepatic hepatitis B virus markers than in those that were negative (p less than 0. 1).", "output": {"entities": {"gene": [{"text": "p21", "start": 17, "end": 20}], "disease": [{"text": "micronodular cirrhosis", "start": 126, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "In cultured rat intestinal epithelial and human colon cancer cell lines, suppression of CDX2 by antisense RNA caused marked increases in ABI and chromosomal aberrations.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 88, "end": 92}], "disease": [{"text": "chromosomal aberrations", "start": 145, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "By sequencing GJA1, GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six probands with unique missense mutations in GJC2 (encoding connexin [Cx] 47).", "output": {"entities": {"gene": [{"text": "GJA1", "start": 14, "end": 18}], "disease": [{"text": "lymphedema", "start": 84, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "PROP1 gene mutations cause multiple pituitary hormone deficiency (MPHD).", "output": {"entities": {"gene": [{"text": "PROP1 gene", "start": 0, "end": 10}], "disease": [{"text": "pituitary hormone deficiency", "start": 36, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In contrast, all three (100%) of the testicular lymphoma tissues demonstrated hypermethylation of E-cadherin, RASSF1A, and RARB, but not CDKN2B, CDKN2A, BRCA1, RB1, VHL, and GSTP1.", "output": {"entities": {"gene": [{"text": "CDKN2B", "start": 137, "end": 143}], "disease": [{"text": "testicular lymphoma", "start": 37, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that duplications of the PLP gene are the major cause of PMD.", "output": {"entities": {"gene": [{"text": "PLP", "start": 51, "end": 54}], "disease": [{"text": "PMD", "start": 83, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLP", "start": 51, "end": 54}, "tail": {"text": "PMD", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "In the triple-negative breast cancer cell line MDA-MB-231, the mild starvation also reduced rRNA transcription in a KDM2A-dependent manner.", "output": {"entities": {"gene": [{"text": "KDM2A", "start": 116, "end": 121}], "disease": [{"text": "mild", "start": 63, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "To assess the direct correlation of HIF-1α and NF-κB, and the actual mechanism of MDM2 involved in the control over VEGF transcription, we exposed the LNCaP and LNCaP-MST cells (MDM2 transfected) to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 116, "end": 120}], "disease": [{"text": "hypoxia", "start": 199, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "The depletion of FGL2 expression inhibited tumor progression and epithelial-to-mesenchymal transition (EMT) in vitro and in vivo, while ectopic overexpression of FGL2 enhanced cell invasion and induced EMT in vitro.", "output": {"entities": {"gene": [{"text": "EMT", "start": 103, "end": 106}], "disease": [{"text": "tumor progression", "start": 43, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The 3 recognized subtypes include MEN 2A, characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (pheo), and hyperparathyroidism (HPT); MEN 2B, by MTC, pheo, and characteristic stigmata; and familial MTC (FMTC), by the presence of MTC only.", "output": {"entities": {"gene": [{"text": "HPT", "start": 144, "end": 147}], "disease": [{"text": "pheochromocytoma", "start": 94, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The proto-oncogene BCL-2 was discovered with the cloning of the t (14; 18) chromosomal translocation responsible for human follicular lymphoma.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 19, "end": 24}], "disease": [{"text": "chromosomal translocation", "start": 75, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "SLC9A3 missense, splicing and truncation mutations, including an instance of uniparental disomy, and whole-gene deletion were identified in nine patients from eight families with CSD.", "output": {"entities": {"gene": [{"text": "SLC9A3", "start": 0, "end": 6}], "disease": [{"text": "CSD", "start": 179, "end": 182}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC9A3", "start": 0, "end": 6}, "tail": {"text": "CSD", "start": 179, "end": 182}}]}}, "schema": []}
{"input": "A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of USH, characterised by early-onset SNHL and a relatively mild RP.", "output": {"entities": {"gene": [{"text": "CEP250", "start": 22, "end": 28}], "disease": [{"text": "mild", "start": 184, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 125, "end": 130}], "disease": [{"text": "Syndrome of coronal craniosynostosis", "start": 0, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 125, "end": 130}, "tail": {"text": "Syndrome of coronal craniosynostosis", "start": 0, "end": 36}}]}}, "schema": []}
{"input": "The aim of the present study was to analyse the antiproliferative effects and mechanisms of action of protein kinase inhibitors (PKIs) in human glioblastoma multiforme (GBM) cells with different epidermal growth factor receptor (EGFR) and phosphatase and tensin homologue (PTEN) status.", "output": {"entities": {"gene": [{"text": "tensin", "start": 255, "end": 261}], "disease": [{"text": "glioblastoma multiforme", "start": 144, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Mammalian sterile-20-like kinase 4 (MST4) has been implicated in cell proliferation and differentiation.", "output": {"entities": {"gene": [{"text": "MST4", "start": 36, "end": 40}], "disease": [{"text": "sterile", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "We have observed that an early increase in the CD4 +/CD8 + ratio of metastatic melanoma patients during chemoimmunotherapy is the most favourable independent prognostic factor.", "output": {"entities": {"gene": [{"text": "CD8", "start": 53, "end": 56}], "disease": [{"text": "metastatic melanoma", "start": 68, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Gene probes for insulin receptor (INSR) and c-ets-1 were hybridized to metaphase cells from three leukemic patients with the t (11; 19) (q23; p13) translocation.", "output": {"entities": {"gene": [{"text": "INSR", "start": 34, "end": 38}], "disease": [{"text": "translocation", "start": 147, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "However, the receptor was also identified in CD34-marked endothelia of neurofibromas but not in endothelia of MPNST.", "output": {"entities": {"gene": [{"text": "CD34", "start": 45, "end": 49}], "disease": [{"text": "neurofibromas", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Our study identifies mutations in ADCY5, the gene previously linked to familial dyskinesia with facial myokymia, as a cause of familial and sporadic BHC.", "output": {"entities": {"gene": [{"text": "ADCY5", "start": 34, "end": 39}], "disease": [{"text": "BHC", "start": 149, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADCY5", "start": 34, "end": 39}, "tail": {"text": "BHC", "start": 149, "end": 152}}]}}, "schema": []}
{"input": "In an animal model, B16 cells treated with both p19Arf and nutlin-3 yielded increased necrosis and decreased BrdU marking.", "output": {"entities": {"gene": [{"text": "p19Arf", "start": 48, "end": 54}], "disease": [{"text": "necrosis", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Two siblings with the abnormal hemoglobin also demonstrated increased pulmonary artery pressures on exercise echocardiography suggestive of early PPH.", "output": {"entities": {"gene": [{"text": "PPH", "start": 146, "end": 149}], "disease": [{"text": "abnormal hemoglobin", "start": 22, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Mutated GLT8D1 exhibits in & #160; vitro cytotoxicity and induces motor deficits in zebrafish consistent with ALS.", "output": {"entities": {"gene": [{"text": "GLT8D1", "start": 8, "end": 14}], "disease": [{"text": "ALS", "start": 110, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLT8D1", "start": 8, "end": 14}, "tail": {"text": "ALS", "start": 110, "end": 113}}]}}, "schema": []}
{"input": "Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.", "output": {"entities": {"gene": [{"text": "mannosyltransferase I", "start": 67, "end": 88}], "disease": [{"text": "Congenital disorder of glycosylation type Ik", "start": 0, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "mannosyltransferase I", "start": 67, "end": 88}, "tail": {"text": "Congenital disorder of glycosylation type Ik", "start": 0, "end": 44}}]}}, "schema": []}
{"input": "VEGF (165) enhanced human myoblast survival in vitro under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The decidual T cells in the miscarriage appeared higher in responsiveness and IL-2 and IFN-gamma production in comparison with the decidual T cells in the early pregnancy.", "output": {"entities": {"gene": [{"text": "IFN", "start": 87, "end": 90}], "disease": [{"text": "miscarriage", "start": 28, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "For example, early efforts to study, in families, the co-occurrence of the P300 marker and alcoholism have yielded results indicating that the P300 abnormality precedes significant exposure to alcohol and that relatives of alcoholics are more likely to have this trait.", "output": {"entities": {"gene": [{"text": "P300", "start": 75, "end": 79}], "disease": [{"text": "alcoholism", "start": 91, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P300", "start": 75, "end": 79}, "tail": {"text": "alcoholism", "start": 91, "end": 101}}]}}, "schema": []}
{"input": "This stimulation of MDM2 sumoylation is accomplished through a direct interaction of SKI with SUMO-conjugating enzyme E2, Ubc9, resulting in enhanced thioester bond formation and mono-sumoylation of Ubc9.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 20, "end": 24}], "disease": [{"text": "mono", "start": 179, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "AtT20 cells and a human pituitary null cell adenoma cell line (HP75), which expressed abundant p27, had a methylation pattern similar to the NP.", "output": {"entities": {"gene": [{"text": "p27", "start": 95, "end": 98}], "disease": [{"text": "pituitary null cell adenoma", "start": 24, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In contrast to the broad expression of both CMTM3 and CMTM4 in normal human adult tissues, only CMTM3 is silenced or down-regulated in common carcinoma (gastric, breast, nasopharyngeal, esophageal, and colon) cell lines and primary tumors.", "output": {"entities": {"gene": [{"text": "CMTM4", "start": 54, "end": 59}], "disease": [{"text": "carcinoma", "start": 142, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The translocation t (11; 18) (q21; q21) is the most frequent chromosomal aberration associated with MALT lymphoma and results in constitutive NF-kappaB activity via the expression of an API2-MALT1 fusion protein.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 191, "end": 196}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "As an extension of our previous observation, relating a serotonin transporter gene-linked promoter region (5-HTTLPR) diallelic functional polymorphism (short [S] and long [L] alleles) to the risk of post-stroke major depression (PSD), this study investigated the role of 2 other functional polymorphisms of the serotonin transporter gene (5-HTT) in the same sample of subjects with PSD.", "output": {"entities": {"gene": [{"text": "PSD", "start": 229, "end": 232}], "disease": [{"text": "stroke", "start": 204, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "In all tumors, an exclusive cytoplasmic localization of SEMA3F correlated with high levels of vascular endothelial growth factor and was related to the grade and aggressiveness.", "output": {"entities": {"gene": [{"text": "SEMA3F", "start": 56, "end": 62}], "disease": [{"text": "aggressiveness", "start": 162, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: Dicer, Drosha, and Exportin 5 are promising biomarkers and therapeutic targets for urothelial carcinoma of the bladder.", "output": {"entities": {"gene": [{"text": "Exportin 5", "start": 32, "end": 42}], "disease": [{"text": "carcinoma of the bladder", "start": 107, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability.", "output": {"entities": {"gene": [{"text": "EXO1", "start": 22, "end": 26}], "disease": [{"text": "microsatellite instability", "start": 106, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Two cases originally classified as embryonal carcinoma were OCT4 and CD30 negative and showed glypican 3 positivity.", "output": {"entities": {"gene": [{"text": "glypican 3", "start": 94, "end": 104}], "disease": [{"text": "embryonal carcinoma", "start": 35, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick' s disease.", "output": {"entities": {"gene": [{"text": "FTDP-17", "start": 158, "end": 165}], "disease": [{"text": "frontotemporal dementia", "start": 92, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FTDP-17", "start": 158, "end": 165}, "tail": {"text": "frontotemporal dementia", "start": 92, "end": 115}}]}}, "schema": []}
{"input": "Semiquantitative reverse-transcription polymerase chain reaction was used to analyze intralesional cytokine gene expression in 28 patients with post-kala azar dermal leishmaniasis (PKDL) and 14 patients with kala azar (KA).", "output": {"entities": {"gene": [{"text": "PKDL", "start": 181, "end": 185}], "disease": [{"text": "leishmaniasis", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "A review of the literature and the assay of FVIII antigen in 5 hemophilia A patients with previously identified missense mutations from this laboratory yielded a total of 20 other unique CRM-reduced and CRM-positive mutations.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 44, "end": 49}], "disease": [{"text": "hemophilia A", "start": 63, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 44, "end": 49}, "tail": {"text": "hemophilia A", "start": 63, "end": 75}}]}}, "schema": []}
{"input": "One hundred twenty women, including 20 cases of normal (control), 14 cases of cervical intraepithelial neoplasia grade I (CIN I), 35 cases of CIN II, 36 cases of CIN III, and 15 cases of squamous cervical cancer diagnosed by histopathologic evaluation, were subjected to cytopathologic examination, TERC detection by fluorescence in situ hybridization (FISH), and HPV DNA testing by Hybrid Capture II.", "output": {"entities": {"gene": [{"text": "FISH", "start": 353, "end": 357}], "disease": [{"text": "squamous cervical cancer", "start": 187, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to investigate the relation between TG-related parameters considered in different clinical guidelines used in industrialized countries for the management of lipid disorders (namely fasting plasma TG, high density-lipoprotein cholesterol (HDL-C), non-HDL-C concentrations and total-C/HDL-C ratio) and the presence of LPL-null (P207L), LPL-defective (D9N), PPARalpha-L162V, apolipoprotein (apo) E and PPARgamma-P12A gene mutations, in a sample of 292 hypertriglyceridemic subjects treated with fenofibrate for 3 months.", "output": {"entities": {"gene": [{"text": "P12A", "start": 442, "end": 446}], "disease": [{"text": "lipid disorders", "start": 190, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "To determine the functions of p54 (nrb) in breast cancer, we performed a biochemical screen and identified SREBP-1a, a master activator for genes involved in lipid biosynthesis, as a novel interacting protein of p54 (nrb).", "output": {"entities": {"gene": [{"text": "p54", "start": 30, "end": 33}], "disease": [{"text": "breast cancer", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry' s disease.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 106, "end": 127}], "disease": [{"text": "Fabry' s disease", "start": 151, "end": 167}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 106, "end": 127}, "tail": {"text": "Fabry' s disease", "start": 151, "end": 167}}]}}, "schema": []}
{"input": "Aberrant methylation of Reprimo correlates with genetic instability and predicts poor prognosis in pancreatic ductal adenocarcinoma.", "output": {"entities": {"gene": [{"text": "Reprimo", "start": 24, "end": 31}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 99, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Constitutive Angptl2 activation in vivo induced inflammation of the vasculature characterized by abundant attachment of leukocytes to the vessel walls and increased permeability.", "output": {"entities": {"gene": [{"text": "Angptl2", "start": 13, "end": 20}], "disease": [{"text": "inflammation", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we examined a possible association of the CCK STR with mood disorders.", "output": {"entities": {"gene": [{"text": "STR", "start": 68, "end": 71}], "disease": [{"text": "mood disorders", "start": 77, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "It has been published that antibeta2-glycoprotein I (beta2-GPI) antibodies, with lupus anticoagulant activity (LAC), highly correlate with thrombosis.", "output": {"entities": {"gene": [{"text": "GPI", "start": 59, "end": 62}], "disease": [{"text": "lupus anticoagulant", "start": 81, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In vitro models, including invasion, cellular migration (Electrical Cell substrate Impedance Sensing based method), cell growth and matrix adhesion assays were employed in order to assess the biological influence of EPLIN-α expression on KYSE150 oesophageal cancer cells.", "output": {"entities": {"gene": [{"text": "EPLIN", "start": 216, "end": 221}], "disease": [{"text": "adhesion", "start": 139, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Virus-mediated shRNA knockdown of prodynorphin in the rat nucleus accumbens attenuates depression-like behavior and cocaine locomotor sensitization.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 34, "end": 46}], "disease": [{"text": "depression", "start": 87, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 34, "end": 46}, "tail": {"text": "depression", "start": 87, "end": 97}}]}}, "schema": []}
{"input": "Several genes, including SOD1, TDP-43, FUS, Ubiquilin 2, C9orf72 and Profilin 1, have been linked with the sporadic and familiar forms of ALS.", "output": {"entities": {"gene": [{"text": "FUS", "start": 39, "end": 42}], "disease": [{"text": "sporadic", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Expression of MPLW515L in 32D, UT7, or Ba/F3 cells conferred cytokine-independent growth and thrombopoietin hypersensitivity, and resulted in constitutive phosphorylation of JAK2, STAT3, STAT5, AKT, and ERK.", "output": {"entities": {"gene": [{"text": "ERK", "start": 203, "end": 206}], "disease": [{"text": "hypersensitivity", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In hypophosphatasia, extracellular accumulation of TNSALP natural substrates includes inorganic pyrophosphate, an inhibitor of mineralization, which explains the dento-osseous and arthritic complications featuring tooth loss, rickets or osteomalacia, and calcific arthopathies.", "output": {"entities": {"gene": [{"text": "TNSALP", "start": 51, "end": 57}], "disease": [{"text": "tooth loss", "start": 214, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "There was no difference in MPI values between pterygium epithelium and superior conjunctival epithelium (3. 55; P = 0. 12).", "output": {"entities": {"gene": [{"text": "MPI", "start": 27, "end": 30}], "disease": [{"text": "pterygium", "start": 46, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The von Hippel-Lindau tumor suppressor protein (pVHL) negatively regulates hypoxia-inducible mRNAs such as the mRNA encoding vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 161, "end": 165}], "disease": [{"text": "hypoxia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Clinical and laboratory features were similar in the obese children with and without an MC4R mutation.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 88, "end": 92}], "disease": [{"text": "obese", "start": 53, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MC4R", "start": 88, "end": 92}, "tail": {"text": "obese", "start": 53, "end": 58}}]}}, "schema": []}
{"input": "The expression of ANXA2 in the U87 glioma cell line was interrupted using short interfering RNA duplexes, and the role of ANXA2 in the migration and invasiveness of glioma cells was assessed.", "output": {"entities": {"gene": [{"text": "U87", "start": 31, "end": 34}], "disease": [{"text": "glioma", "start": 35, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "SFRP1", "start": 218, "end": 223}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SFRP1", "start": 218, "end": 223}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "The 39-year-old white male proband, with amaurosis fugax and transient ischemic attacks (TIA), was found to be a compound heterozygote for FVL and PTG mutations.", "output": {"entities": {"gene": [{"text": "PTG", "start": 147, "end": 150}], "disease": [{"text": "amaurosis fugax", "start": 41, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Rituximab, given weekly after tumors had reached 250 mm2, led to complete disappearance of the lymphoma within 2-3 wk.", "output": {"entities": {"gene": [{"text": "mm2", "start": 53, "end": 56}], "disease": [{"text": "lymphoma", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The plasmid vectors containing ODD significantly improved the expression level of VEGF protein in hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 82, "end": 86}], "disease": [{"text": "hypoxic", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "A nonsynonymous single nucleotide polymorphism rs13266634 in the SLC30A8 gene, encoding the secretory granule zinc transporter ZnT8, is associated with type 2 diabetes.", "output": {"entities": {"gene": [{"text": "SLC30A8", "start": 65, "end": 72}], "disease": [{"text": "type 2 diabetes", "start": 152, "end": 167}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SLC30A8", "start": 65, "end": 72}, "tail": {"text": "type 2 diabetes", "start": 152, "end": 167}}]}}, "schema": []}
{"input": "NPM expression was found significantly upregulated in CRC compared to adjacent colorectal tissue, villous adenoma, tubular adenoma and normal colorectal mucosa (p < 0. 05 for all).", "output": {"entities": {"gene": [{"text": "NPM", "start": 0, "end": 3}], "disease": [{"text": "tubular adenoma", "start": 115, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the MAPK/Erk1/2 signaling triggered by adhesion increased during at least 4 h and was independent of cholesterol disturbing.", "output": {"entities": {"gene": [{"text": "Erk1", "start": 22, "end": 26}], "disease": [{"text": "adhesion", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Regulation of macrophage production of vascular endothelial growth factor (VEGF) by hypoxia and transforming growth factor beta-1.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 75, "end": 79}], "disease": [{"text": "hypoxia", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The surface antigen expression of oMSCs was consistent with that of MSCs; they lacked the hematopoietic and common leukocyte markers (CD34, CD45) while expressing those related to adhesion (CD29, CD166, CD44) and stem cells (CD90, CD105, CD73).", "output": {"entities": {"gene": [{"text": "CD45", "start": 140, "end": 144}], "disease": [{"text": "adhesion", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "In a Cox regression model, the adjusted hazard ratios for the risk of progression with epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) were 0. 24 (95% CI, 0. 14-0. 42; p < 0. 001) for the EGFR mutation and 1. 27 (95% CI, 0. 58-2. 79; p = 0. 537) for the KRAS mutation.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 148, "end": 152}], "disease": [{"text": "regression", "start": 9, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.", "output": {"entities": {"gene": [{"text": "SUOX", "start": 64, "end": 68}], "disease": [{"text": "sulfite oxidase deficiency", "start": 9, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SUOX", "start": 64, "end": 68}, "tail": {"text": "sulfite oxidase deficiency", "start": 9, "end": 35}}]}}, "schema": []}
{"input": "To investigate whether a common polymorphism in the cholesteryl ester transfer protein (CETP) gene modifies the relationship of alcohol intake with high-density lipoprotein cholesterol (HDL-C) and risk of coronary heart disease (CHD).", "output": {"entities": {"gene": [{"text": "CETP", "start": 88, "end": 92}], "disease": [{"text": "alcohol intake", "start": 128, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The cyclin-dependent kinase inhibitor p27 (Kip1) (p27) plays a pivotal role in controlling cell proliferation during development and tumorigenesis.", "output": {"entities": {"gene": [{"text": "p27", "start": 38, "end": 41}], "disease": [{"text": "tumorigenesis", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Crouzon syndrome (MIM 123500) is a common autosomal dominant form of craniosynostosis with shallow orbits, ocular proptosis, and maxillary hypoplasia.", "output": {"entities": {"gene": [{"text": "MIM", "start": 18, "end": 21}], "disease": [{"text": "ocular proptosis", "start": 107, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Surgical procedure (PH, Portal vein stenosis (PVS), bile duct ligation (BDL), spinal cord lesion (SCL)) and treatments (capsaicin, bile acids (BA), oleanolic acid (OA)) were performed on rats and/or wild type or TGR5 (GPBAR1) knock-out mice.", "output": {"entities": {"gene": [{"text": "GPBAR1", "start": 218, "end": 224}], "disease": [{"text": "stenosis", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "A novel APC mutation defines a second locus for Cenani-Lenz syndrome.", "output": {"entities": {"gene": [{"text": "APC", "start": 8, "end": 11}], "disease": [{"text": "Cenani-Lenz syndrome", "start": 48, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APC", "start": 8, "end": 11}, "tail": {"text": "Cenani-Lenz syndrome", "start": 48, "end": 68}}]}}, "schema": []}
{"input": "Some hyperoxia-exposed mice had one eye injected intravitreally with 150 ng/1. 5 microL of soluble EphrinB2/Fc or EphB4/Fc chimeras during transition from high O (2) to room air (P12) and injected again on P14.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 114, "end": 119}], "disease": [{"text": "hyperoxia", "start": 5, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "In this study we show that expression of VEGF is regulated by hypoxia in human endometrium.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 41, "end": 45}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The kinetics of Trim62, Atrogin1 and MuRF1 expression were determined in the gastrocnemius/plantaris and tibialis anterior muscles from mouse models of inflammation-, denervation-and starvation-induced muscle atrophy to differentiate between these contributors to ICUAW.", "output": {"entities": {"gene": [{"text": "Trim62", "start": 16, "end": 22}], "disease": [{"text": "muscle atrophy", "start": 202, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "To perform molecular prenatal diagnosis in a family with partial androgen insensitivity syndrome, we studied the Hind III polymorphism of the androgen receptor gene on the trophoblastic DNA.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 142, "end": 159}], "disease": [{"text": "partial androgen insensitivity syndrome", "start": 57, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 142, "end": 159}, "tail": {"text": "partial androgen insensitivity syndrome", "start": 57, "end": 96}}]}}, "schema": []}
{"input": "Multiple Endocrine Neoplasia (MEN) 2A is an inherited disease characterized by the development of medullary thyroid carcinoma (MTC), pheochromocytoma (PHCH) and hyperparathyroidism (HPT).", "output": {"entities": {"gene": [{"text": "HPT", "start": 182, "end": 185}], "disease": [{"text": "medullary thyroid carcinoma", "start": 98, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "We performed a case-control study to analyze possible associations of HLA-A, HLA-B, HLA-Cw, HLA-DRB1 and HLA-DQB1 alleles with clinical disease severity caused by dengue virus infection.", "output": {"entities": {"gene": [{"text": "HLA-DQB1", "start": 105, "end": 113}], "disease": [{"text": "virus infection", "start": 170, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "The authors investigated the impact of the genetic polymorphisms cytochrome P450 (CYP) family 2, subfamily D, polypeptide 6, allele 10 (CYP2D6 10) and CYP family 2, subfamily C, polypeptide 19, allele 2, 3 (CYP2C19 2, 3) on disease recurrence in patients with breast cancer who received adjuvant tamoxifen and evaluated the impact of those polymorphisms on endometrial thickness, bone mineral density (BMD), and serum total cholesterol levels.", "output": {"entities": {"gene": [{"text": "CYP2C19", "start": 207, "end": 214}], "disease": [{"text": "bone mineral density", "start": 380, "end": 400}]}, "relations": {}}, "schema": []}
{"input": "One haplotype variant in the IGF1 gene was found to be associated with mammographic density.", "output": {"entities": {"gene": [{"text": "IGF1 gene", "start": 29, "end": 38}], "disease": [{"text": "mammographic density", "start": 71, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The Rae1-Nup98 complex prevents aneuploidy by inhibiting securin degradation.", "output": {"entities": {"gene": [{"text": "securin", "start": 57, "end": 64}], "disease": [{"text": "aneuploidy", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Both facilitated allergen sensitization and secondary degradation of filaggrin following T-helper cell 2 inflammation might be key elements to understanding this relationship.", "output": {"entities": {"gene": [{"text": "filaggrin", "start": 69, "end": 78}], "disease": [{"text": "secondary", "start": 44, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "This review focuses on the molecular characterization of ABCA4 and ELOVL4 and their role in photoreceptor cell biology and the pathogenesis of Stargardt disease.", "output": {"entities": {"gene": [{"text": "ELOVL4", "start": 67, "end": 73}], "disease": [{"text": "Stargardt disease", "start": 143, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ELOVL4", "start": 67, "end": 73}, "tail": {"text": "Stargardt disease", "start": 143, "end": 160}}]}}, "schema": []}
{"input": "OBJECTIVES: The purpose of this study was to investigate immunohistochemical differences in testicular tissue due to STZ induced diabetes regarding pluripotency via transcription factors like Klf4, Sox2, c-Myc and Oct4, and to determine weight changes in both the subjects and the testes during the experiment.", "output": {"entities": {"gene": [{"text": "Sox2", "start": 198, "end": 202}], "disease": [{"text": "weight changes", "start": 237, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Airway epithelial cells isolated from PCD-affected individuals had markedly reduced HEATR2 levels, absent dynein arms, and loss of ciliary beating.", "output": {"entities": {"gene": [{"text": "HEATR2", "start": 84, "end": 90}], "disease": [{"text": "PCD", "start": 38, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HEATR2", "start": 84, "end": 90}, "tail": {"text": "PCD", "start": 38, "end": 41}}]}}, "schema": []}
{"input": "We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer' s or dementia.", "output": {"entities": {"gene": [{"text": "ADAMTS1", "start": 97, "end": 104}], "disease": [{"text": "dementia", "start": 240, "end": 248}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADAMTS1", "start": 97, "end": 104}, "tail": {"text": "dementia", "start": 240, "end": 248}}]}}, "schema": []}
{"input": "We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the tau gene.", "output": {"entities": {"gene": [{"text": "tau", "start": 129, "end": 132}], "disease": [{"text": "frontotemporal dementia", "start": 56, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tau", "start": 129, "end": 132}, "tail": {"text": "frontotemporal dementia", "start": 56, "end": 79}}]}}, "schema": []}
{"input": "A fluorescence in situ hybridization (FISH) study was performed in 56 patients with short stature of unknown cause in order to establish the role of deletion of the SHOX gene in this population.", "output": {"entities": {"gene": [{"text": "FISH", "start": 38, "end": 42}], "disease": [{"text": "short stature", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We have recently found an increased expression of amyloid precursor protein (APP) in cold thyroid nodules that are difficult to classify as a truly benign thyroid neoplasm or a lesion with the potential for further dedifferentiation.", "output": {"entities": {"gene": [{"text": "APP", "start": 77, "end": 80}], "disease": [{"text": "cold", "start": 85, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Previously, autosomal-recessive loss-of-function mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder.", "output": {"entities": {"gene": [{"text": "ATR", "start": 62, "end": 65}], "disease": [{"text": "developmental disorder", "start": 111, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Our findings define the molecular pathology of homozygous VP and suggest that mild PPOX mutations occur in the general population but have very low or no clinical penetrance in heterozygotes.", "output": {"entities": {"gene": [{"text": "PPOX", "start": 83, "end": 87}], "disease": [{"text": "VP", "start": 58, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PPOX", "start": 83, "end": 87}, "tail": {"text": "VP", "start": 58, "end": 60}}]}}, "schema": []}
{"input": "Our study indicates that BRCA1 + can cause genome instability with both germline and somatic mutations in non-breast cells.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 25, "end": 30}], "disease": [{"text": "genome instability", "start": 43, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We investigated the expression of basic fibroblast growth factor (b-FGF) and platelet-derived endothelial cell growth factor (PD-ECGF) in squamous cell carcinoma of the esophagus in order to clarify the mechanism of angiogenesis.", "output": {"entities": {"gene": [{"text": "endothelial cell growth factor", "start": 94, "end": 124}], "disease": [{"text": "squamous cell carcinoma of the esophagus", "start": 138, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Significant levels of TNF (578 +/-917 pg/ml versus 24 +/-29 pg/ml) (p = 0. 01), GM-CSF (24 +/-41 pg/ml versus less than 8 pg/ml) (p = 0. 02), and IL-6 (225 +/-327 pg/ml versus 7 +/-12 pg/ml) (p = 0. 01), but not IL-1 alpha or IL-4, were detected in the bronchoalveolar lavage fluid (BALF) of patients with symptomatic compared with BALF of patients with asymptomatic asthma.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 146, "end": 150}], "disease": [{"text": "asymptomatic", "start": 354, "end": 366}]}, "relations": {}}, "schema": []}
{"input": "We studied 351 randomly selected healthy postmenopausal women, with mean age of 55. 43 +/-2. 75 years and mean body mass index (BMI) of 27. 5 +/-4. 78 kg/m2, to evaluate the frequency of BsmI polymorphism (by restriction fragment length polymorphism-polymerase chain reaction) in the VDR gene and to find out whether there is an association between this polymorphism and BMI, total fat volume and visceral fat (as determined by total body dual-energy X-ray absorptiometry), blood pressure, lipid profile (total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, triglycerides) glucose and fasting insulin in the whole group, as well as subgroups of obese and non-obese women.", "output": {"entities": {"gene": [{"text": "VDR gene", "start": 284, "end": 292}], "disease": [{"text": "blood pressure", "start": 474, "end": 488}]}, "relations": {}}, "schema": []}
{"input": "Animal models suggest that RERE deficiency might contribute to many of the structural and developmental birth defects and medical problems seen in individuals with 1p36 deletion syndrome, although human evidence supporting this role has been lacking.", "output": {"entities": {"gene": [{"text": "RERE", "start": 27, "end": 31}], "disease": [{"text": "1p36 deletion syndrome", "start": 164, "end": 186}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RERE", "start": 27, "end": 31}, "tail": {"text": "1p36 deletion syndrome", "start": 164, "end": 186}}]}}, "schema": []}
{"input": "Results revealed that while most genes investigated showed near equivalent expression levels, both Apolipoprotein E (APOE) and the beta2 subunit of the voltage-gated sodium channel (SCN2beta) were significantly underexpressed in brains of the seizure-prone embryos.", "output": {"entities": {"gene": [{"text": "beta2", "start": 131, "end": 136}], "disease": [{"text": "seizure", "start": 243, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "The genotype (s) of TTV responsible for the liver dysfunction could not be determined.", "output": {"entities": {"gene": [{"text": "TTV", "start": 20, "end": 23}], "disease": [{"text": "liver dysfunction", "start": 44, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Mutant alleles on TPMT and the variant c. 94C > A on ITPA gene predict side effects induced by AZA in our population (myelosuppression and arthralgia).", "output": {"entities": {"gene": [{"text": "ITPA gene", "start": 53, "end": 62}], "disease": [{"text": "myelosuppression", "start": 118, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Eight protein-coding regions were involved: ras-responsive element binding protein 1, calmodulin 1, mixed lineage leukemia 2 (MLL2), FLJ333655, LOC220272, LOC255345, LOC220220, and LOC168991.", "output": {"entities": {"gene": [{"text": "ras-responsive element binding protein 1", "start": 44, "end": 84}], "disease": [{"text": "mixed lineage leukemia", "start": 100, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The expressions of CDK4 and Cyclin D1 increased along with progression of gallbladder mucosa hyperplasia; and showed highest expression in cancer group.", "output": {"entities": {"gene": [{"text": "CDK4", "start": 19, "end": 23}], "disease": [{"text": "hyperplasia", "start": 93, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We determined the expression profile of PTK genes in normal skin and keloid fibroblasts using the homology cloning method with a degenerated primer.", "output": {"entities": {"gene": [{"text": "PTK", "start": 40, "end": 43}], "disease": [{"text": "keloid", "start": 69, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "B-cell lymphomas with concurrent IGH/BCL2 and MYC gene rearrangements, termed dual-translocation or double-hit lymphomas (DTLs), rarely are identified.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 37, "end": 41}], "disease": [{"text": "translocation", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "By contrast, there was no association between having a father with schizophrenia and APA.", "output": {"entities": {"gene": [{"text": "APA", "start": 85, "end": 88}], "disease": [{"text": "schizophrenia", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "There have been lower Bcl-2 levels and increased Bax/Bcl-2 ratio in the temporal cortex of patients with schizophrenia compared with those in controls.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 22, "end": 27}], "disease": [{"text": "schizophrenia", "start": 105, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 22, "end": 27}, "tail": {"text": "schizophrenia", "start": 105, "end": 118}}]}}, "schema": []}
{"input": "NCM demethylation increased with aging in patients with single tumors, but decreased in those with multiple tumors.", "output": {"entities": {"gene": [{"text": "NCM", "start": 0, "end": 3}], "disease": [{"text": "multiple tumors", "start": 99, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.", "output": {"entities": {"gene": [{"text": "UMP synthase", "start": 31, "end": 43}], "disease": [{"text": "hereditary orotic aciduria", "start": 96, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UMP synthase", "start": 31, "end": 43}, "tail": {"text": "hereditary orotic aciduria", "start": 96, "end": 122}}]}}, "schema": []}
{"input": "PAR-1 and PAR-2 in the cells forming the tumor microenvironment suggest that these receptors mediate the signaling of secreted thrombin and trypsin in the processes of cellular metastasis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 0, "end": 3}], "disease": [{"text": "metastasis", "start": 177, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "TTV-DNA detection by amplification of a segment of the ORF-1 region, presented a prevalence of 11. 9% in 270 serum samples from blood donors, of 46. 2% in 18 samples from patients with coagulopathies, and of 31. 8% in 15 samples from patients with hemoglobinopathies.", "output": {"entities": {"gene": [{"text": "TTV", "start": 0, "end": 3}], "disease": [{"text": "hemoglobinopathies", "start": 248, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study.", "output": {"entities": {"gene": [{"text": "EVA", "start": 114, "end": 117}], "disease": [{"text": "blood pressure", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The results show that stimulation of 5-HT 1A receptors exerts anticonvulsant actions in stressed and unstressed mice, while stimulation of 5-HT 2A/2C receptors does not interfere with the effect of stress on picrotoxin-induced convulsions.", "output": {"entities": {"gene": [{"text": "5-HT 1A", "start": 37, "end": 44}], "disease": [{"text": "convulsions", "start": 227, "end": 238}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "5-HT 1A", "start": 37, "end": 44}, "tail": {"text": "convulsions", "start": 227, "end": 238}}]}}, "schema": []}
{"input": "The plasma elafin concentration in the highest quartile (≥ 12. 69 ng/mL) was inversely associated with asthma (adjusted odds ratio 0. 122 [95% confidence interval, 0. 053-0. 278]) compared with the lowest quartile (< 5. 82 ng/mL) after adjusting for age, sex, smoking status, waist-to-hip ratio, percentage predicted forced expiratory volume in 1 second, cockroaches in the home, incense burning, and family history.", "output": {"entities": {"gene": [{"text": "elafin", "start": 11, "end": 17}], "disease": [{"text": "waist-to-hip ratio", "start": 276, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "Several growth factors, including EGF, PDGF, and TGF-β1, are involved in pulmonary vascular remodeling during pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "EGF", "start": 34, "end": 37}], "disease": [{"text": "vascular remodeling", "start": 83, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "PPAR gamma gene mutations have been found in 4 of 55 sporadic colon cancers, and a chimeric PAX8-PPAR gamma 1 gene frequently generates a chromosomal translocation in thyroid follicular carcinomas, implicating PPAR gamma in tumor suppression.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 92, "end": 96}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In some specimens, CD40L (+) platelets were identified in the intima and in plaque ruptures.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 19, "end": 24}], "disease": [{"text": "plaque", "start": 76, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Additionally, it has a significant effect on tumorigenesis by limiting angiogenesis and invasion of tumours through the ECM.", "output": {"entities": {"gene": [{"text": "ECM", "start": 120, "end": 123}], "disease": [{"text": "tumorigenesis", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that a PWSI-mediated impairment in antioxidant defense mechanisms, presumably mediated by PGC-1 & #945; downregulation in the NMDAR-deleted PV-positive interneurons, results in oxidative stress, which, in turn, might contribute to exacerbation of schizophrenia-like behavioral phenotypes.", "output": {"entities": {"gene": [{"text": "PGC-1", "start": 112, "end": 117}], "disease": [{"text": "schizophrenia", "start": 269, "end": 282}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PGC-1", "start": 112, "end": 117}, "tail": {"text": "schizophrenia", "start": 269, "end": 282}}]}}, "schema": []}
{"input": "This study investigated L1 cell adhesion molecule (L1CAM) expression and its role in tumorigenesis of ATCs.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 51, "end": 56}], "disease": [{"text": "tumorigenesis", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Promotion of inflammation was also involved because lower TSP-1 was able to up-regulate the adhesion molecules intercellular adhesion molecule-1 and vascular cell adhesion molecule-1.", "output": {"entities": {"gene": [{"text": "TSP-1", "start": 58, "end": 63}], "disease": [{"text": "adhesion", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia-inducible factor 1 (HIF-1) promotes extracellular matrix remodeling under hypoxic conditions by inducing P4HA1, P4HA2, and PLOD2 expression in fibroblasts.", "output": {"entities": {"gene": [{"text": "P4HA2", "start": 120, "end": 125}], "disease": [{"text": "hypoxic", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Chondrodysplasia Grebe type (CGT) is an autosomal recessive disorder characterized by severe limb shortening and dysmorphogenesis.", "output": {"entities": {"gene": [{"text": "CGT", "start": 29, "end": 32}], "disease": [{"text": "dysmorphogenesis", "start": 113, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results implicate SIRT2 as an important regulator of programmed necrosis and indicate that inhibitors of this deacetylase may constitute a novel approach to protect against necrotic injuries, including ischaemic stroke and myocardial infarction.", "output": {"entities": {"gene": [{"text": "SIRT2", "start": 40, "end": 45}], "disease": [{"text": "necrotic", "start": 195, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The frequency of human leukocyte antigen (HLA)-B27 has been found to be increased in rheumatoid arthritis (RA) in Finland and marginally also in some other populations.", "output": {"entities": {"gene": [{"text": "B27", "start": 47, "end": 50}], "disease": [{"text": "rheumatoid arthritis", "start": 85, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean patient whose phenotype included early onset steatocystoma multiplex and Hutchinson-like tooth deformities along with other typical features of PC-2 such as hypertrophic nails, natal teeth and follicular hyperkeratosis.", "output": {"entities": {"gene": [{"text": "keratin 17", "start": 55, "end": 65}], "disease": [{"text": "PC-2", "start": 234, "end": 238}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 17", "start": 55, "end": 65}, "tail": {"text": "PC-2", "start": 234, "end": 238}}]}}, "schema": []}
{"input": "We have investigated the possibility that mutations in the gene LHX9, whose murine ortholog causes isolated gonadal agenesis when inactivated, might be responsible for gonadal dysgenesis and agenesis in humans.", "output": {"entities": {"gene": [{"text": "LHX9", "start": 64, "end": 68}], "disease": [{"text": "gonadal agenesis", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Dominant-negative mutations of CEBPA have been found in some patients with acute myeloid leukemia (AML), but not in AML with the t (8; 21) translocation which gives rise to the fusion gene RUNX1-CBF2T1 (also known as AML1-ETO) encoding the AML1-ETO fusion protein.", "output": {"entities": {"gene": [{"text": "AML1", "start": 217, "end": 221}], "disease": [{"text": "translocation", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The full-length transcript of the gene (LAMA3-B) did not appear to be hypoxia-associated.", "output": {"entities": {"gene": [{"text": "LAMA3", "start": 40, "end": 45}], "disease": [{"text": "hypoxia", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We asked whether Pdx1 is a target of anti-islet autoimmunity in type I diabetes (T1D).", "output": {"entities": {"gene": [{"text": "Pdx1", "start": 17, "end": 21}], "disease": [{"text": "autoimmunity", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "About 15% of sporadic gastrointestinal and endometrial tumors show the microsatellite instability (MSI) phenotype because of loss of DNA mismatch repair (MMR) function.", "output": {"entities": {"gene": [{"text": "MMR", "start": 154, "end": 157}], "disease": [{"text": "microsatellite instability", "start": 71, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Mutations in other regulatory genes such as HESX1, PROP1, PIT1/POU1F1, and GLI2 have been shown to be additional causes of pituitary hormone deficiency, but overall, the etiology of many cases of hypopituitarism is not understood.", "output": {"entities": {"gene": [{"text": "GLI2", "start": 75, "end": 79}], "disease": [{"text": "pituitary hormone deficiency", "start": 123, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "In this study, CRC from 329 Alaska Native people (165 Eskimo, 111 Indians, and 53 Aleut) were evaluated for evidence of defective DNA mismatch repair (MMR) by testing tumors for altered protein expression (hMLH1, hMSH2, and hMSH6) and for the presence of microsatellite instability.", "output": {"entities": {"gene": [{"text": "MMR", "start": 151, "end": 154}], "disease": [{"text": "microsatellite instability", "start": 255, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "Differences in mean body mass index (BMI) and other anthropometric measures including weight, waist circumference, and waist-to-hip ratio were assessed by a general linear model in individuals categorized by INSIG2 rs7566605 genotype.", "output": {"entities": {"gene": [{"text": "INSIG2", "start": 208, "end": 214}], "disease": [{"text": "weight", "start": 86, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "These data show a relation between the E-cadherin 3'-UTR C--> T polymorphism, the-160 A/-347 GA haplotype of two promoter polymorphisms and risk of endometriosis, suggesting a potential role in endometriosis development, at least in North Chinese women.", "output": {"entities": {"gene": [{"text": "UTR", "start": 53, "end": 56}], "disease": [{"text": "endometriosis", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Transgenic expression of Cd36 in the new lines was associated with significantly decreased serum fatty acids, amelioration of insulin resistance and glucose intolerance but failed to induce any consistent changes in blood pressure as measured by radiotelemetry.", "output": {"entities": {"gene": [{"text": "Cd36", "start": 25, "end": 29}], "disease": [{"text": "blood pressure", "start": 216, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Strikingly, a mutation in p150 (Glued) causal for the lethal neurodegenerative disorder Perry syndrome abrogates this anti-catastrophe activity.", "output": {"entities": {"gene": [{"text": "p150 (Glued", "start": 26, "end": 37}], "disease": [{"text": "Perry syndrome", "start": 88, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p150 (Glued", "start": 26, "end": 37}, "tail": {"text": "Perry syndrome", "start": 88, "end": 102}}]}}, "schema": []}
{"input": "Moreover, silibinin reduced hypoxia-induced vascular endothelial growth factor (VEGF) release by HeLa and Hep3B cells, and this effect was potentiated by the PI3K/Akt inhibitor LY294002.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 80, "end": 84}], "disease": [{"text": "hypoxia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Constitutive expression of Fas ligand (Fas L) was found in the basal layer of the normal esophageal mucosa and in IEUs and cytomegalovirus ulcerations.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 27, "end": 37}], "disease": [{"text": "cytomegalovirus", "start": 123, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that sKlotho levels are not affected in type 2 diabetes patients with and without MVD.", "output": {"entities": {"gene": [{"text": "MVD", "start": 102, "end": 105}], "disease": [{"text": "type 2 diabetes", "start": 60, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Our analysis effectively identified clonal events, including a novel translocation of a super enhancer to the TERT promoter, as well as subclonal LOH and multiple EGFR mutational variants within tumors.", "output": {"entities": {"gene": [{"text": "TERT", "start": 110, "end": 114}], "disease": [{"text": "translocation", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that secretin promotes the metabolism of serotonin and dopamine in the central nervous system, which may contribute to improvement in clinical symptoms of autism.", "output": {"entities": {"gene": [{"text": "secretin", "start": 28, "end": 36}], "disease": [{"text": "autism", "start": 178, "end": 184}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "secretin", "start": 28, "end": 36}, "tail": {"text": "autism", "start": 178, "end": 184}}]}}, "schema": []}
{"input": "While 30 days of obstruction in utero between 75 and 105 days gestation resulted in overall growth of the fetal bladder as assessed by weight, protein, and DNA measurements, we found that apoptosis, as assessed by in situ end-labeling, was up-regulated in fetal bladder detrusor muscle and lamina propria cells and that this was accompanied by a down-regulation of the anti-death protein Bcl-2 and an up-regulation of the pro-death protein Bax.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 388, "end": 393}], "disease": [{"text": "weight", "start": 135, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "One case showed prominent mucinous differentiation, which, coupled with high-molecular-weight keratins (HMWK) positivity, mimicked mucoepidermoid carcinoma (MEC).", "output": {"entities": {"gene": [{"text": "HMWK", "start": 104, "end": 108}], "disease": [{"text": "weight", "start": 87, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "VEGF expression decreased under acidic conditions in 2 cell lines, but the hypoxia stimulus remained effective under acidic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Here, we show stable expression and functional analysis of rat NaV1. 8 (rNaV1. 8) in the rat DRG/mouse N18Tg2 neuroblastoma hybridoma cell line ND7-23.", "output": {"entities": {"gene": [{"text": "DRG", "start": 93, "end": 96}], "disease": [{"text": "neuroblastoma", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the gain of Cited2 function counteracts glucocorticoid-induced muscle atrophy through inhibition of proteolysis mediated by p300-dependent gene transcription.", "output": {"entities": {"gene": [{"text": "Cited2", "start": 39, "end": 45}], "disease": [{"text": "muscle atrophy", "start": 90, "end": 104}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Cited2", "start": 39, "end": 45}, "tail": {"text": "muscle atrophy", "start": 90, "end": 104}}]}}, "schema": []}
{"input": "An additional case of follicular lymphoma showed translocation of bcl-2 gene with involvement of the minor cluster region (mcr), making a total of nine out of 16.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 66, "end": 76}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that PAP may play a pro-proliferative role in hypoxic GSCs with a HIF2α-induction pattern, which may be ascribed to stimulated A2B receptors and activated Akt and Erk-1/2 pathways.", "output": {"entities": {"gene": [{"text": "PAP", "start": 29, "end": 32}], "disease": [{"text": "hypoxic", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We show strongly increased T cell expression of CD134 in a model of T helper 2-mediated systemic autoimmunity, induced by HgCl2.", "output": {"entities": {"gene": [{"text": "CD134", "start": 48, "end": 53}], "disease": [{"text": "autoimmunity", "start": 97, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD134", "start": 48, "end": 53}, "tail": {"text": "autoimmunity", "start": 97, "end": 109}}]}}, "schema": []}
{"input": "Twelve normal skin specimens, 12 specimens of psoriasis, 21 specimens of bowenoid papulosis (BP), 16 specimens of Bowen' s disease (BD), 38 specimens of skin squamous cell carcinoma (SCC), and 11 specimens of basal cell carcinoma (BCC) were subjected to immunohistochemical staining for MCM5 and PCNA.", "output": {"entities": {"gene": [{"text": "MCM5", "start": 287, "end": 291}], "disease": [{"text": "skin squamous cell carcinoma", "start": 153, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "While tumors have been shown to overcome the stress associated with GD or hypoxia by stimulating vascular endothelial growth factor (VEGF)-mediated angiogenesis, the role of AAD in tumor angiogenesis remains to be elucidated.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 133, "end": 137}], "disease": [{"text": "hypoxia", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Both hypoxia and TGFbeta-1 have been shown to regulate VEGF in other cell types.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 55, "end": 59}], "disease": [{"text": "hypoxia", "start": 5, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Six independent studies have reported evidence of linkage between systolic pressure and chromosome 16p12 that incorporates SCNN1G, the gene encoding the gamma-subunit of the epithelial sodium channel.", "output": {"entities": {"gene": [{"text": "SCNN1G", "start": 123, "end": 129}], "disease": [{"text": "systolic pressure", "start": 66, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The mammalian target of rapamycin (mTOR) is a serine/threonine kinase that in the brain, regulates several important physiological functions such as neuronal development and synaptic plasticity, and also seems to be involved in many pathologies, including epilepsy and psychiatric disorders.", "output": {"entities": {"gene": [{"text": "serine/threonine kinase", "start": 46, "end": 69}], "disease": [{"text": "epilepsy", "start": 256, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins.", "output": {"entities": {"gene": [{"text": "Rag-2", "start": 237, "end": 242}], "disease": [{"text": "Omenn syndrome", "start": 34, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Rag-2", "start": 237, "end": 242}, "tail": {"text": "Omenn syndrome", "start": 34, "end": 48}}]}}, "schema": []}
{"input": "Mutations in RPE65 cause early-onset blindness, and Rpe65-deficient mice lack 11-cis-retinal but overaccumulate alltrans-retinyl esters in the retinal pigment epithelium (RPE).", "output": {"entities": {"gene": [{"text": "Rpe65", "start": 52, "end": 57}], "disease": [{"text": "blindness", "start": 37, "end": 46}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Rpe65", "start": 52, "end": 57}, "tail": {"text": "blindness", "start": 37, "end": 46}}]}}, "schema": []}
{"input": "The present study sought to investigate the contribution of an autophagy inhibitor (3-methyladenine, 3-MA) on the regulation of ZnTs, microtubule-associated protein 1A/1B light chain 3 (LC3), and beclin-1 expression in rat hippocampus following recurrent neonatal seizures.", "output": {"entities": {"gene": [{"text": "microtubule-associated protein 1A", "start": 134, "end": 167}], "disease": [{"text": "neonatal seizures", "start": 255, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "RER-positive phenotypes were detected in none of 13 protruded type adenomas, two (33%) out of six superficial elevated type adenomas and two (50%) out of four carcinomas.", "output": {"entities": {"gene": [{"text": "RER", "start": 0, "end": 3}], "disease": [{"text": "carcinomas", "start": 159, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "SREBP-2 was similarly under the transcriptional control of CREB and its induction regulates the expression of matrix metalloproteinases (MMPs), key degradative enzymes involved in bone metastases by breast cancer cells.", "output": {"entities": {"gene": [{"text": "SREBP-2", "start": 0, "end": 7}], "disease": [{"text": "metastases", "start": 185, "end": 195}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SREBP-2", "start": 0, "end": 7}, "tail": {"text": "metastases", "start": 185, "end": 195}}]}}, "schema": []}
{"input": "HRG immunoreactivity was found in interstitial cells of the gastric ulcer bed and coexpressed with COX-2.", "output": {"entities": {"gene": [{"text": "HRG", "start": 0, "end": 3}], "disease": [{"text": "gastric ulcer", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "To achieve hepatoma-restricted cytotoxicity and enhance replication of Ad within the context of tumor microenvironment, we used a modified human α-fetoprotein (hAFP) promoter to control the replication of Ad with a hypoxia response element (HRE).", "output": {"entities": {"gene": [{"text": "α-fetoprotein", "start": 145, "end": 158}], "disease": [{"text": "hypoxia", "start": 215, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "After viral infection, HSCARG interacted with tumor necrosis receptor-associated factor 3 (TRAF3) and inhibited its ubiquitination by promoting the recruitment of OTUB1 to TRAF3.", "output": {"entities": {"gene": [{"text": "HSCARG", "start": 23, "end": 29}], "disease": [{"text": "viral infection", "start": 6, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The catechol-o-methyltransferase val158met polymorphism was weakly associated with the personality traits,' Spirituality' (P = 0. 040) and irritable temperament (P = 0. 022).", "output": {"entities": {"gene": [{"text": "catechol-o-methyltransferase", "start": 4, "end": 32}], "disease": [{"text": "personality traits", "start": 87, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "AIM: We investigated the angiogenesis and density of newly formed blood vessels in embryonal tumors in relation to Ki-67, bcl-2, p-53 and p-27 expression.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "embryonal tumors", "start": 83, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The gene coding for these transcript (the bcl-2 gene) seems to be interrupted in most cases of follicular lymphomas carrying the t (14; 18) chromosomal translocation.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 42, "end": 52}], "disease": [{"text": "chromosomal translocation", "start": 140, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "After 14 days' exposure to hypobaric hypoxia, pulmonary arterial pressure (PAP) was significantly increased.", "output": {"entities": {"gene": [{"text": "PAP", "start": 75, "end": 78}], "disease": [{"text": "hypoxia", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in the SPP1 promoter are secondary genetic risk factors contributing to PXE susceptibility.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 21, "end": 25}], "disease": [{"text": "secondary", "start": 39, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "A novel SVM-ID3 hybrid feature selection method to build a disease model for melanoma using integrated genotyping and phenotype data from dbGaP.", "output": {"entities": {"gene": [{"text": "ID3", "start": 12, "end": 15}], "disease": [{"text": "melanoma", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "IL-22 has also been shown to modulate cell cycle and proliferation mediators such as extracellular signal-regulated kinase (ERK) and c-Jun N-terminal kinase (JNK), but little is known about the underlying molecular mechanisms of IL-22 in tumorigenesis.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 238, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "This meta-analysis suggested that CYP2E1 Pst I/Rsa I polymorphism might be not significantly associated with advanced form of ALD (ALC), but might be significantly associated with other form of ALD such as steatosis, hepatisis, fibrosis.", "output": {"entities": {"gene": [{"text": "ALC", "start": 131, "end": 134}], "disease": [{"text": "fibrosis", "start": 228, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "FTO is a nucleic acid demethylase, and a deficiency in FTO leads to a complex phenotype highlighted by postnatal growth retardation, pointing to some fundamental developmental role.", "output": {"entities": {"gene": [{"text": "FTO", "start": 0, "end": 3}], "disease": [{"text": "postnatal growth retardation", "start": 103, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we determined that prostate cancer cells express high levels of CTR1, the primary copper transporter, and additional chaperones that are required to maintain intracellular copper homeostasis.", "output": {"entities": {"gene": [{"text": "CTR1", "start": 77, "end": 81}], "disease": [{"text": "prostate cancer", "start": 32, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTR1", "start": 77, "end": 81}, "tail": {"text": "prostate cancer", "start": 32, "end": 47}}]}}, "schema": []}
{"input": "We used two strains of cultured oral cancer cells, one with reduced EGFR expression (OECM1 cells) and one with elevated EGFR expression (SAS cells), and measured downstream effects, such as phosphorylation of beta-catenin and GSK-3beta, association of beta-catenin with E-cadherin, and target gene regulation.", "output": {"entities": {"gene": [{"text": "SAS", "start": 137, "end": 140}], "disease": [{"text": "oral cancer", "start": 32, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "A missense SNP in the DEAD box polypeptide 5 (DDX5) gene was significantly associated with an increased risk of advanced fibrosis in both the UCSF and the VCU cohorts (OR, 1. 8 and 2. 2, respectively).", "output": {"entities": {"gene": [{"text": "DDX5", "start": 46, "end": 50}], "disease": [{"text": "fibrosis", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Investigating 82 strictly selected sporadic cases of PMD, we found PLP mutations in 77%; complete PLP-gene duplications were the most frequent abnormality (62%), whereas point mutations in coding or splice-site regions of the gene were involved less frequently (38%).", "output": {"entities": {"gene": [{"text": "PLP", "start": 67, "end": 70}], "disease": [{"text": "PMD", "start": 53, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLP", "start": 67, "end": 70}, "tail": {"text": "PMD", "start": 53, "end": 56}}]}}, "schema": []}
{"input": "Polymorphisms in two sites of TNF-α gene promoter do not alter the risk of pancreatitis.", "output": {"entities": {"gene": [{"text": "α gene", "start": 34, "end": 40}], "disease": [{"text": "pancreatitis", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Additionally, cystatin C-based GFR was higher than that calculated from creatinine level (p < 0. 0001) in HNF1A-MODY, while the two GFR estimates were similar or cystatin C-based lower in the other groups.", "output": {"entities": {"gene": [{"text": "GFR", "start": 31, "end": 34}], "disease": [{"text": "creatinine level", "start": 72, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Five additional BSNS cases with typical morphology were studied by FISH, revealing a PAX3-MAML3 fusion in 4 cases and only PAX3 rearrangement in the remaining case without abnormalities in MAML3 or NCOA1 gene.", "output": {"entities": {"gene": [{"text": "NCOA1 gene", "start": 198, "end": 208}], "disease": [{"text": "abnormalities", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.", "output": {"entities": {"gene": [{"text": "PMM2", "start": 43, "end": 47}], "disease": [{"text": "CDG-Ia", "start": 65, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMM2", "start": 43, "end": 47}, "tail": {"text": "CDG-Ia", "start": 65, "end": 71}}]}}, "schema": []}
{"input": "Also, genome instability resulting from an excess of DDB2 persisting in UV-irradiated cells is prevented by concurrent p97 overexpression.", "output": {"entities": {"gene": [{"text": "DDB2", "start": 53, "end": 57}], "disease": [{"text": "genome instability", "start": 6, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Genetic evidence from the study of Cav-1 (-/-) null mice and human breast cancer mutations [CAV-1 (P132L)] supports the idea that caveolin-1 normally functions as a negative regulator of cell transformation and mammary tumorigenesis.", "output": {"entities": {"gene": [{"text": "CAV", "start": 92, "end": 95}], "disease": [{"text": "mammary tumorigenesis", "start": 211, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Evidence for GO induced autophagy includes increased levels of isoform B-II microtubule-associated protein 1 light chain 3 (LC3), aggregation of green fluorescence protein-tagged LC3, and increased numbers of autophagic vacuoles in cells.", "output": {"entities": {"gene": [{"text": "LC3", "start": 124, "end": 127}], "disease": [{"text": "autophagic vacuoles", "start": 209, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we demonstrated that FoxM1 was required for the G (2)-M phase progression through regulating Cdc2, Cdc20, and Cdc25B under a mild heat shock stress but enhanced cell survival under lethal heat shock stress condition.", "output": {"entities": {"gene": [{"text": "Cdc25B", "start": 123, "end": 129}], "disease": [{"text": "mild", "start": 138, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 42, "end": 47}], "disease": [{"text": "Wilson disease", "start": 21, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 42, "end": 47}, "tail": {"text": "Wilson disease", "start": 21, "end": 35}}]}}, "schema": []}
{"input": "Most familial cases of pheochromocytoma and/or paraganglioma and 10-20% sporadic cases carry germline mutations in VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, or MAX.", "output": {"entities": {"gene": [{"text": "MAX", "start": 174, "end": 177}], "disease": [{"text": "sporadic", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies.", "output": {"entities": {"gene": [{"text": "MAD", "start": 26, "end": 29}], "disease": [{"text": "hyperpigmentation", "start": 148, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "To address this issue, we evaluated expression of several proangiogenic factors [interleukin (IL)-8, vascular endothelial growth factor (VEGF), fibroblast growth factor (FGF)-2, stromal-derived factor (SDF)-1, hepatocyte growth factor (HGF) and leukemia inhibitory factor (LIF)] in 8 human RMS cell lines in both normal steady-state and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 137, "end": 141}], "disease": [{"text": "hypoxic", "start": 337, "end": 344}]}, "relations": {}}, "schema": []}
{"input": "While enzyme replacement therapy (ERT) with idursulfase has been shown to improve many somatic features of the disease, some such as dysostosis multiplex and cardiac valve disease appear irreversible once established, and little is known about the preventative effects of ERT in pre-symptomatic patients.", "output": {"entities": {"gene": [{"text": "ERT", "start": 34, "end": 37}], "disease": [{"text": "dysostosis multiplex", "start": 133, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "So far, the condition has been described in only one patient with mutations in ENO3 in a compound heterozygous state who presented with exercise intolerance, post-exercise myalgia and mild hyperCKemia but no pigmenturia.", "output": {"entities": {"gene": [{"text": "ENO3", "start": 79, "end": 83}], "disease": [{"text": "mild", "start": 184, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "However, the frequency of primary liver carcinoma (PLC) with biliary differentiation, such as cholangiocarcinoma (CC) and combined hepatocholangiocarcinoma (CHCC), in GH remains unclear We analyzed the histologic type of 20 PLCs occurring in the background of GH; all patients were homozygotic for the C282Y mutation.", "output": {"entities": {"gene": [{"text": "PLC", "start": 51, "end": 54}], "disease": [{"text": "cholangiocarcinoma", "start": 94, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SCN2A, the gene encoding the brain voltage-gated sodium channel alpha-subunit Na (V) 1. 2, are associated with inherited epilepsies including benign familial neonatal-infantile seizures (BFNIS).", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 13, "end": 18}], "disease": [{"text": "BFNIS", "start": 200, "end": 205}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN2A", "start": 13, "end": 18}, "tail": {"text": "BFNIS", "start": 200, "end": 205}}]}}, "schema": []}
{"input": "AEG-1 protects normal cells from serum starvation-induced death through protective autophagy, and inhibition of AEG-1-induced autophagy results in serum starvation-induced cell death.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 0, "end": 5}], "disease": [{"text": "starvation", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Our findings provide further tentative evidence of the role of IL-1 in alcohol dependence as well as evidence that the nature of the associations may be direct, gender-specific, or involve haplotype effects.", "output": {"entities": {"gene": [{"text": "IL-1", "start": 63, "end": 67}], "disease": [{"text": "alcohol dependence", "start": 71, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1", "start": 63, "end": 67}, "tail": {"text": "alcohol dependence", "start": 71, "end": 89}}]}}, "schema": []}
{"input": "Foxa2 regulates alveolarization and goblet cell hyperplasia.", "output": {"entities": {"gene": [{"text": "Foxa2", "start": 0, "end": 5}], "disease": [{"text": "hyperplasia", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrated that microRNA-7 (miR-7) appears to be a novel tumor-suppressor miRNA, which abrogates the stemness of PCSCs and inhibits prostate tumorigenesis by suppressing a key stemness factor KLF4.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 48, "end": 53}], "disease": [{"text": "tumorigenesis", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether the breast parenchymal SER around the tumor on preoperative dynamic contrast-enhanced magnetic resonance imaging (MRI) is associated with subsequent IBTR in breast cancer patients who had undergone breast-conserving treatment.", "output": {"entities": {"gene": [{"text": "MRI", "start": 137, "end": 140}], "disease": [{"text": "breast cancer", "start": 180, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Cripto-1 may be capable of up-regulating signalling molecules associated with epithelial-to-mesenchymal transition (EMT), an important event characterized by loss of E-cadherin during malignant tumour progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 116, "end": 119}], "disease": [{"text": "tumour progression", "start": 194, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "CIC-DUX4 and CIC-FOXO4 fusions have been reported in soft tissue tumors, while BCOR-CCNB3 fusion with an X chromosomal inversion was described in both bone and soft tissue tumors.", "output": {"entities": {"gene": [{"text": "BCOR", "start": 79, "end": 83}], "disease": [{"text": "soft tissue tumors", "start": 53, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Association between functional polymorphisms of Foxp3 gene and the occurrence of unexplained recurrent spontaneous abortion in a Chinese Han population.", "output": {"entities": {"gene": [{"text": "Foxp3 gene", "start": 48, "end": 58}], "disease": [{"text": "recurrent spontaneous abortion", "start": 93, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We report a novel MLL-associated chromosome translocation t (11; 14) (q23; q24) in a child who showed signs of acute undifferentiated leukemia 3 years after intensive chemotherapy that included the topoisomerase-II inhibitor VP 16.", "output": {"entities": {"gene": [{"text": "MLL", "start": 18, "end": 21}], "disease": [{"text": "acute undifferentiated leukemia", "start": 111, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLL", "start": 18, "end": 21}, "tail": {"text": "acute undifferentiated leukemia", "start": 111, "end": 142}}]}}, "schema": []}
{"input": "In addition, the serum levels of interleukin-3 (IL-3), IL-5, IL-6, IL-13, CD40, and tumor necrosis factor-alpha and the plaque contents of IL-6 and matrix metalloproteinase-9 were reduced in mice with CCR5-overexpressing EPC treatment.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 61, "end": 65}], "disease": [{"text": "plaque", "start": 120, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "SEMD, MR, microcephaly, ataxia, facial dysmorphism and hirsutism of back and legs were noted in the two children.", "output": {"entities": {"gene": [{"text": "SEMD", "start": 0, "end": 4}], "disease": [{"text": "hirsutism", "start": 55, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The gene encoding catechol-O-methyltransferase (COMT), an enzyme which regulates prefrontal cortex dopamine, contains a common functional single nucleotide polymorphism (val158met, rs4680G/A), which accounts for part of the interindividual variance in performance during working memory tasks and also predicts personality traits.", "output": {"entities": {"gene": [{"text": "COMT", "start": 48, "end": 52}], "disease": [{"text": "personality traits", "start": 310, "end": 328}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotransferase (ALT), or level of ALT alone, was associated with rs738409 (patatin-like phospholipase domain-containing protein 3 [PNPLA3]), rs2228603 (neurocan [NCAN]), rs12137855 (lysophospholipase-like 1), rs780094 (glucokinase regulatory protein [GCKR]), and rs4240624 (protein phosphatase 1, regulatory subunit 3b [PPP1R3B]) using regression modeling in an additive genetic model, controlling for age, age-squared, sex, and alcohol consumption.", "output": {"entities": {"gene": [{"text": "alanine aminotransferase", "start": 85, "end": 109}], "disease": [{"text": "alcohol consumption", "start": 524, "end": 543}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expression of neuroglobin, myoglobin and hypoxia markers (HIF1α and VEGFa) was measured with qRTPCR, while neuroglobin promoter methylation was assessed with Pyrosequencing.", "output": {"entities": {"gene": [{"text": "VEGFa", "start": 77, "end": 82}], "disease": [{"text": "hypoxia", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Among 1135 cases and 1135 controls, findings suggests that GNB1L is linked with bipolar disorder and schizophrenia and not with major depressive disorder.", "output": {"entities": {"gene": [{"text": "GNB1L", "start": 59, "end": 64}], "disease": [{"text": "bipolar disorder", "start": 80, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNB1L", "start": 59, "end": 64}, "tail": {"text": "bipolar disorder", "start": 80, "end": 96}}]}}, "schema": []}
{"input": "We have previously reported an overexpression of Smad1 in follicular lymphoma (FL) cells, which are characterized by the t (14; 18) bcl2/IgH translocation.", "output": {"entities": {"gene": [{"text": "bcl2", "start": 132, "end": 136}], "disease": [{"text": "translocation", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "To gain insight into its potential role in other epithelia we have investigated the expression of NGAL in human skin embryonic development, in normal adult skin, and in skin associated with inflammation and neoplastic transformation.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 98, "end": 102}], "disease": [{"text": "neoplastic transformation", "start": 207, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "The engineered CD4 (+) T cells and CD8 (+) T cells both exhibited specific cytotoxicity against CD19 (+) leukemia and lymphoma cell lines, as well as against CD19 transfectants, and produced high-levels of antigen-dependent Th1 (but not Th2) cytokines.", "output": {"entities": {"gene": [{"text": "Th1", "start": 224, "end": 227}], "disease": [{"text": "lymphoma", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The treatment of mice with brain metastasis improves survival decreasing reactive astrocytes and angiogenesis, and down-regulate FN14 and its ligand TWEAK.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 149, "end": 154}], "disease": [{"text": "brain metastasis", "start": 27, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "When the cells were subjected to hypoxia, the PAF-induced production of VEGF was enhanced by 6. 7-fold as compared to the unstimulated cells incubated under normoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 72, "end": 76}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Our genetic and functional data support the assumption that mutations in NEK8 cause nephronophthisis (NPHP9), adding another link between proteins mutated in cystic kidney disease and their localization to cilia and centrosomes.", "output": {"entities": {"gene": [{"text": "NEK8", "start": 73, "end": 77}], "disease": [{"text": "NPHP9", "start": 102, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NEK8", "start": 73, "end": 77}, "tail": {"text": "NPHP9", "start": 102, "end": 107}}]}}, "schema": []}
{"input": "Multivariate analysis of residual disease showed significant associations between breast cancer subtype and MRI (area under the curve [AUC], 0. 84; P <. 001).", "output": {"entities": {"gene": [{"text": "MRI", "start": 108, "end": 111}], "disease": [{"text": "breast cancer", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "To determine whether somatic mutation of the Pin1 gene is involved in the development and/or progression of gastric cancer, we searched for mutations of the Pin1 gene in 95 gastric cancer specimens.", "output": {"entities": {"gene": [{"text": "Pin1 gene", "start": 45, "end": 54}], "disease": [{"text": "somatic mutation", "start": 21, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Dysregulation of PI3K-AKT-mTOR pathway has been reported in various pathologies, such as cancer and insulin resistance.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 17, "end": 21}], "disease": [{"text": "insulin resistance", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Genetically induced dysfunctions of Kir2. 1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.", "output": {"entities": {"gene": [{"text": "Kir2. 1", "start": 36, "end": 43}], "disease": [{"text": "epilepsy", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Sp1 is involved in 8-chloro-adenosine-upregulated death receptor 5 expression in human hepatoma cells.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 0, "end": 3}], "disease": [{"text": "hepatoma", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Stable SET knockdown in head and neck squamous cell carcinoma promotes cell invasion and the mesenchymal-like phenotype in vitro, as well as necrosis, cisplatin sensitivity and lymph node metastasis in xenograft tumor models.", "output": {"entities": {"gene": [{"text": "SET", "start": 7, "end": 10}], "disease": [{"text": "necrosis", "start": 141, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SET", "start": 7, "end": 10}, "tail": {"text": "necrosis", "start": 141, "end": 149}}]}}, "schema": []}
{"input": "These results suggest that STAT3 is a target of beta-catenin/TCF pathway and might participate in esophageal tumorigenesis.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 27, "end": 32}], "disease": [{"text": "esophageal", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Given the role of ERK1/2, alphaCaMKII and CREB in neuroplastic mechanisms and cell communication, our data suggest that their decreased activation following chronic PCP administration can contribute to cortical defects occurring in schizophrenia, and may therefore represent potential targets for pharmacological intervention.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 18, "end": 22}], "disease": [{"text": "schizophrenia", "start": 232, "end": 245}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK1", "start": 18, "end": 22}, "tail": {"text": "schizophrenia", "start": 232, "end": 245}}]}}, "schema": []}
{"input": "A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).", "output": {"entities": {"gene": [{"text": "BLOC1S3", "start": 23, "end": 30}], "disease": [{"text": "HPS8", "start": 105, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BLOC1S3", "start": 23, "end": 30}, "tail": {"text": "HPS8", "start": 105, "end": 109}}]}}, "schema": []}
{"input": "Thirteen patients with up to two-week-old phlebothromboses were treated with streptokinase and human plasminogen according to a fixed dosage scheme.", "output": {"entities": {"gene": [{"text": "plasminogen", "start": 101, "end": 112}], "disease": [{"text": "phlebothromboses", "start": 42, "end": 58}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "plasminogen", "start": 101, "end": 112}, "tail": {"text": "phlebothromboses", "start": 42, "end": 58}}]}}, "schema": []}
{"input": "These findings suggest that that the I/D polymorphism of the ACE gene influences the relationship between left ventricular mass and echocardiographic left ventricular diastolic filling abnormalities in patients with essential hypertension.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 61, "end": 69}], "disease": [{"text": "left ventricular mass", "start": 106, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "VEGF or HIF-1alpha was antagonized in human retinal pigment epithelial (RPE) cells using RNAi, and then cells were cultured under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We describe a patient with acute promyelocytic leukemia (APL) and the karyotype 46, XX, i (17) (q10) with PML-RARA fusion gene detected by fluorescence in situ hybridization (FISH) and nested reverse transcriptase-polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "q10", "start": 96, "end": 99}], "disease": [{"text": "acute promyelocytic leukemia", "start": 27, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "A number of studies have been devoted to the association of CYP1A1 or GSTM1 polymorphism with susceptibility to esophageal carcinoma and have yielded conflicting results.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 70, "end": 75}], "disease": [{"text": "carcinoma", "start": 123, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We measured the mRNA levels of electron transport chain genes, and mitochondrial structural genes, Drp1 (dynamin-related protein 1), Fis1 (fission 1), Mfn1 (mitofusin 1), Mfn2 (mitofusin 2), Opa1 (optric atrophy 1), Tomm40 (translocase of outermembrane 40) and CypD (cyclophilin D) in grade III and grade IV HD patients and controls.", "output": {"entities": {"gene": [{"text": "Tomm40", "start": 216, "end": 222}], "disease": [{"text": "atrophy", "start": 204, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "The BRCA1-related subgroup mostly displayed non-luminal phenotypes, of which basal-like were most prominent, whereas the other two genomic instability subgroups BRCA2-and GII-high-III (non-BRCA), were almost entirely of luminal phenotype.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 4, "end": 9}], "disease": [{"text": "genomic instability", "start": 131, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Four studies comprising 260 stroke patients with PSD and 381 without were included.", "output": {"entities": {"gene": [{"text": "PSD", "start": 49, "end": 52}], "disease": [{"text": "stroke", "start": 28, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The CEA/HER2 vaccine was tested in two different CEA/HER2 double-transgenic mouse models and in NOD/scid-DR1 mice engrafted with the human immune system.", "output": {"entities": {"gene": [{"text": "DR1", "start": 105, "end": 108}], "disease": [{"text": "scid", "start": 100, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Eosinophilic pustular folliculitis (EPF) is a chronic intractable pruritic dermatosis characterized by massive eosinophil infiltrates involving the pilosebaceous units.", "output": {"entities": {"gene": [{"text": "EPF", "start": 36, "end": 39}], "disease": [{"text": "dermatosis", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Candidate genes (TYMS, MTHFR, ABCB1, BGLAP, ACP5, LRP5, ESR1, PAI-1, VDR, PTH, and PTHR) were chosen based on putative mechanisms underlying osteonecrosis risk.", "output": {"entities": {"gene": [{"text": "TYMS", "start": 17, "end": 21}], "disease": [{"text": "osteonecrosis", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, overexpression of BOB. 1/OBF. 1 represents a characteristic feature of these tumors that is useful in their identification.", "output": {"entities": {"gene": [{"text": "OBF", "start": 38, "end": 41}], "disease": [{"text": "tumors", "start": 90, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the minor variant at FTO rs9939609 seems to play no major role in the increased weight-for-height of PA subjects; but the risk allele at TCF7L2 rs7903146 may have a role in the pathogenesis of PA in lean subjects.", "output": {"entities": {"gene": [{"text": "FTO", "start": 36, "end": 39}], "disease": [{"text": "height", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Forced expression of ARTN in ER-positive human mammary carcinoma cells increased ER transcriptional activity, promoted estrogen-independent growth and produced resistance to tamoxifen and fulvestrant in vitro and to tamoxifen in xenograft models.", "output": {"entities": {"gene": [{"text": "ARTN", "start": 21, "end": 25}], "disease": [{"text": "human mammary carcinoma", "start": 41, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARTN", "start": 21, "end": 25}, "tail": {"text": "human mammary carcinoma", "start": 41, "end": 64}}]}}, "schema": []}
{"input": "Quantitative real-time PCR (qRT-PCR) was performed to detect the expression of miR-16-1 in normal brain tissues and two glioma cell lines, including U251 and U87.", "output": {"entities": {"gene": [{"text": "U87", "start": 158, "end": 161}], "disease": [{"text": "glioma", "start": 120, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "A chimeric yellow fever-dengue 1 (ChimeriVax-DEN1) virus was produced by the transfection of Vero cells with chimeric in vitro RNA transcripts.", "output": {"entities": {"gene": [{"text": "DEN1", "start": 45, "end": 49}], "disease": [{"text": "yellow fever", "start": 11, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We report two children who presented with profound prelingual deafness, confirmed by the absence of detectable responses to auditory evoked potentials (AEP), associated with the presence of bilateral TEOAE.", "output": {"entities": {"gene": [{"text": "AEP", "start": 152, "end": 155}], "disease": [{"text": "prelingual deafness", "start": 51, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In addition, (18) F-FLT plaque signal correlated with the duration of high cholesterol diet (r (2) = 0. 33, P < 0. 05).", "output": {"entities": {"gene": [{"text": "FLT", "start": 20, "end": 23}], "disease": [{"text": "plaque", "start": 24, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "No correlation was found between the reduced GLP-1R expression and clinical parameters including body mass index, age, glycosylated hemoglobin, and disease duration.", "output": {"entities": {"gene": [{"text": "GLP-1R", "start": 45, "end": 51}], "disease": [{"text": "body mass index", "start": 97, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM #308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome.", "output": {"entities": {"gene": [{"text": "MIM", "start": 57, "end": 60}], "disease": [{"text": "neurological disorders", "start": 108, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Over-expression of MTSS1 reduced the growth, invasion, adhesion and migration of kidney cell lines in vitro.", "output": {"entities": {"gene": [{"text": "MTSS1", "start": 19, "end": 24}], "disease": [{"text": "adhesion", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "After adjustment for smoking and drinking status, the male patients without smoking or drinking status (group 4) had higher ALDH2 * 2 allele frequency than group 1, but the difference was still not significant (P = 0. 139).", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 124, "end": 129}], "disease": [{"text": "smoking", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Mouse mammary tumor virus-neu mice were bred with Id1-/-Id3 +/-mice to ascertain the role of Id1 and Id3 in mammary tumorigenesis in a more physiologically relevant model.", "output": {"entities": {"gene": [{"text": "Id1", "start": 50, "end": 53}], "disease": [{"text": "mammary tumorigenesis", "start": 108, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In summary, our data suggest that the TRPV1 antagonist, AMG9810, promotes mouse skin tumorigenesis mediated through EGFR/Akt/mTOR signaling.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 38, "end": 43}], "disease": [{"text": "tumorigenesis", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The β-cell is subject to a number of other stressors, including insulin resistance and hyperglycaemia, that may contribute to amyloid formation by increasing IAPP production by the β-cell.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 158, "end": 162}], "disease": [{"text": "insulin resistance", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, levels of crystallin gene expression are correlated with the severity of MIA as assessed by placental weight.", "output": {"entities": {"gene": [{"text": "MIA", "start": 86, "end": 89}], "disease": [{"text": "weight", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The body mass index (BMI) and the circulating levels of chemerin and other inflammatory, adiposity and insulin resistance markers were assessed in female and male adults of varying degree of obesity.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 56, "end": 64}], "disease": [{"text": "body mass index", "start": 4, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "TNF a was up-regulated, consistent with a cachexia phenotype and EGF levels were increased.", "output": {"entities": {"gene": [{"text": "EGF", "start": 65, "end": 68}], "disease": [{"text": "cachexia", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Adiponectin receptor-1 and monocyte chemoattractant protein-1 mRNA expressions were significantly higher in visceral but not in subcutaneous adipose tissue of the ESRD group.", "output": {"entities": {"gene": [{"text": "Adiponectin receptor-1", "start": 0, "end": 22}], "disease": [{"text": "ESRD", "start": 163, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Adiponectin receptor-1", "start": 0, "end": 22}, "tail": {"text": "ESRD", "start": 163, "end": 167}}]}}, "schema": []}
{"input": "Nine of 50 MS patients became hypomanic or manic during treatment with ACTH or prednisone.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 71, "end": 75}], "disease": [{"text": "manic", "start": 34, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 71, "end": 75}, "tail": {"text": "manic", "start": 34, "end": 39}}]}}, "schema": []}
{"input": "TFF3 mediated induction of VEGF via hypoxia in human gastric cancer SGC-7901 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 27, "end": 31}], "disease": [{"text": "hypoxia", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Body-weight (BW), body composition, leptin concentration, and polymorphisms of the PLIN gene: PLIN1: rs2289487, PLIN4: rs894160, PLIN6: rs1052700, PLIN5: rs2304795 and PLIN7: rs 2304796 were determined.", "output": {"entities": {"gene": [{"text": "PLIN5", "start": 147, "end": 152}], "disease": [{"text": "weight", "start": 5, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "The first steps of invasion and metastasis include the dissociation of adherens junctions and the induction of migratory phenotype, through a program that resembles epithelial-mesenchymal transition (EMT).", "output": {"entities": {"gene": [{"text": "EMT", "start": 200, "end": 203}], "disease": [{"text": "dissociation", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate here that the transcriptional modulator megakaryocytic leukemia 1 (MKL1) was activated by hypoxia and transforming growth factor (TGF-β), two prominent pro-malignancy factors, in cultured lung cancer cells.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 145, "end": 150}], "disease": [{"text": "hypoxia", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "HIF-1alpha protein levels were increased by hypoxia in 3 of 4 colorectal carcinoma cell lines (COLO201, DLD-1, WiDr), and VEGF mRNA levels were also increased by hypoxia in the same cell lines.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 122, "end": 126}], "disease": [{"text": "hypoxia", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Tollip is a critical mediator of cerebral ischaemia-reperfusion injury.", "output": {"entities": {"gene": [{"text": "Tollip", "start": 0, "end": 6}], "disease": [{"text": "cerebral ischaemia", "start": 33, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In starvation-stressed TBP/Q36 and TBP/Q79 cells, increased reactive oxygen species generation accelerated the cytoplasmic translocation of HMGB1, which accompanied autophagy activation.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 140, "end": 145}], "disease": [{"text": "starvation", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Genetic variants of CARD15 that might result in inappropriate immunomodulation are not only associated with autoimmune diseases but also with atopic disorders.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 20, "end": 26}], "disease": [{"text": "atopic", "start": 142, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "MicroRNA expression profile and functional analysis reveal that miR-382 is a critical novel gene of alcohol addiction.", "output": {"entities": {"gene": [{"text": "miR-382", "start": 64, "end": 71}], "disease": [{"text": "alcohol addiction", "start": 100, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-382", "start": 64, "end": 71}, "tail": {"text": "alcohol addiction", "start": 100, "end": 117}}]}}, "schema": []}
{"input": "The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate.", "output": {"entities": {"gene": [{"text": "MMP13", "start": 48, "end": 53}], "disease": [{"text": "MDST", "start": 4, "end": 8}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MMP13", "start": 48, "end": 53}, "tail": {"text": "MDST", "start": 4, "end": 8}}]}}, "schema": []}
{"input": "These data show that cisplatin resistance in HGS carcinoma develops from pre-existing minor clones but that enrichment for these clones is not apparent during short-term chemotherapy treatment.", "output": {"entities": {"gene": [{"text": "HGS", "start": 45, "end": 48}], "disease": [{"text": "carcinoma", "start": 49, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "All cases were analyzed for chromosomal aberrations commonly observed in nodal large B-cell lymphomas, including structural aberrations of the genes BCL2, BCL6, and c-MYC, and numerical aberrations of the chromosomes/genes 3, 7, 8, 11, 12, 13, 17, 18q, RB1, and p53.", "output": {"entities": {"gene": [{"text": "MYC", "start": 167, "end": 170}], "disease": [{"text": "chromosomal aberrations", "start": 28, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The melanocortin hormones regulate pigmentation, cortisol production, food intake, and body weight by signaling through five G protein-coupled receptors positively coupled to the cAMP pathway (MC1R-MC5R).", "output": {"entities": {"gene": [{"text": "MC5R", "start": 198, "end": 202}], "disease": [{"text": "pigmentation", "start": 35, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Altered expression of TAP-1 and major histocompatibility complex class I in laryngeal papillomatosis: correlation of TAP-1 with disease.", "output": {"entities": {"gene": [{"text": "TAP", "start": 22, "end": 25}], "disease": [{"text": "laryngeal papillomatosis", "start": 76, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The results were replicated in an independent sample of bipolar manic patients treated with antipsychotics (n tot = 470, the sample was retrieved from the STEP-BD).", "output": {"entities": {"gene": [{"text": "STEP", "start": 155, "end": 159}], "disease": [{"text": "manic", "start": 64, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "FGFR1 mRNA expression was higher in depression than in the other groups in CA1, CA4 and DG.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 0, "end": 5}], "disease": [{"text": "CA4", "start": 80, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR1", "start": 0, "end": 5}, "tail": {"text": "CA4", "start": 80, "end": 83}}]}}, "schema": []}
{"input": "We describe a patient with a PGRN c. 26C > A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism.", "output": {"entities": {"gene": [{"text": "PGRN", "start": 29, "end": 33}], "disease": [{"text": "mild", "start": 170, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the detection rate of IFN-Rc mRNA in chronic persistent hepatitis, chronic hepatitis 2A, chronic hepatitis 2B and liver cirrhosis (LC) was 100, 71. 4, 22. 2 and 0%, respectively.", "output": {"entities": {"gene": [{"text": "IFN", "start": 35, "end": 38}], "disease": [{"text": "chronic persistent hepatitis", "start": 50, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Individuals with an ADH1B * 2 allele had lower rates of AUDs, consumed a lower maximum number of drinks in a 24-hr period, reported a greater level of response to alcohol, were more likely to have experienced alcohol-induced headaches following 1 or 2 drinks, and reported more severe hangovers than those lacking this allele.", "output": {"entities": {"gene": [{"text": "ADH1B", "start": 20, "end": 25}], "disease": [{"text": "hangovers", "start": 285, "end": 294}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADH1B", "start": 20, "end": 25}, "tail": {"text": "hangovers", "start": 285, "end": 294}}]}}, "schema": []}
{"input": "Both sildenafil and shRNA (PDE-5) significantly improved viability, decreased necrosis, apoptosis, and enhanced the release of growth factors, vascular endothelial growth factor (VEGF), basic fibroblast growth factor (b-FGF), and insulin-like growth factor.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 179, "end": 183}], "disease": [{"text": "necrosis", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "However, the exact mechanism of tumorigenesis involving p75NTR is unknown.", "output": {"entities": {"gene": [{"text": "p75NTR", "start": 56, "end": 62}], "disease": [{"text": "tumorigenesis", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Thus, a novel genomic region on 18q21. 1 was identified that most likely harbors a high-risk variant for NSCL/P in this family; we propose to name this locus \" OFC11 \" (orofacial cleft 11).", "output": {"entities": {"gene": [{"text": "NSCL", "start": 105, "end": 109}], "disease": [{"text": "orofacial cleft 11", "start": 169, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Our work shows that activation of mTOR by Ras homologue enriched in brain (Rheb) overexpression potently enhances the activity of HIF1alpha and vascular endothelial growth factor (VEGF)-A secretion during hypoxia, which is reversed with rapamycin.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 180, "end": 184}], "disease": [{"text": "hypoxia", "start": 205, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "The heterogeneity of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene.", "output": {"entities": {"gene": [{"text": "IDS gene", "start": 119, "end": 127}], "disease": [{"text": "mild", "start": 55, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of B-Raf (V600E) resulted in TSP-1 down-regulation and a reduction of adhesion and migration/invasion of human thyroid cancer cells.", "output": {"entities": {"gene": [{"text": "TSP-1", "start": 39, "end": 44}], "disease": [{"text": "adhesion", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We propose that loss-of-function mutations in TDP1 may cause SCAN1 either by interfering with DNA transcription or by inducing apoptosis in postmitotic neurons.", "output": {"entities": {"gene": [{"text": "TDP1", "start": 46, "end": 50}], "disease": [{"text": "SCAN1", "start": 61, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TDP1", "start": 46, "end": 50}, "tail": {"text": "SCAN1", "start": 61, "end": 66}}]}}, "schema": []}
{"input": "The t (14; 18) translocation, which involves the bcl-2 oncogene, occurs in follicular lymphomas (FL) at two common sites: the major breakpoint region (MBR) and the minor cluster region (mcr).", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 49, "end": 54}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "So far, PHF1 was found to be the 3' partner in the JAZF1-PHF1 and EPC1-PHF1 chimeras but since the 6p21 rearrangements involve also other chromosomal translocation partners, other PHF1-fusions seem likely.", "output": {"entities": {"gene": [{"text": "PHF1", "start": 8, "end": 12}], "disease": [{"text": "chromosomal translocation", "start": 138, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Somatization was evaluated using the respective subscale of the Symptom Checklist SCL-90-R. Six monoaminergic genes were identified showing an involvement in pain perception and somatization according to the literature: COMT, HTR2A, SLC6A2, SLC6A4, DRD4, and TPH1.", "output": {"entities": {"gene": [{"text": "SLC6A2", "start": 233, "end": 239}], "disease": [{"text": "somatization", "start": 178, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Although the molecular basis of piebaldism has been unclear, a phenotypically similar \" dominant spotting \" of mice is caused by mutations in the murine c-kit protooncogene.", "output": {"entities": {"gene": [{"text": "c-kit protooncogene", "start": 153, "end": 172}], "disease": [{"text": "piebaldism", "start": 32, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "c-kit protooncogene", "start": 153, "end": 172}, "tail": {"text": "piebaldism", "start": 32, "end": 42}}]}}, "schema": []}
{"input": "To test whether genetic instability might accelerate tumor progression, we generated Apc (Min/+) mice homozygous for the hypomorphic allele of the Nijmegen breakage syndrome gene (Nbs1 (DeltaB)) and also treated Apc (Min/+) mice with a strong somatic mutagen.", "output": {"entities": {"gene": [{"text": "Nbs1", "start": 180, "end": 184}], "disease": [{"text": "tumor progression", "start": 53, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In metastatic colon cancer cells, HMGA1 induces expression of Twist1, a gene involved in embryogenesis, EMT, and tumor progression, while HMGA1 represses E-cadherin, a gene that is down-regulated during EMT and metastatic progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 104, "end": 107}], "disease": [{"text": "tumor progression", "start": 113, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, PTK2 and EIF3S3, which, respectively, encode focal adhesion kinase and the p40 subunit of the eukaryotic initiation factor 3, were probable targets within the amplification at 8q23-q24 and may be involved in progression of HCC.", "output": {"entities": {"gene": [{"text": "EIF3S3", "start": 24, "end": 30}], "disease": [{"text": "HCC", "start": 238, "end": 241}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EIF3S3", "start": 24, "end": 30}, "tail": {"text": "HCC", "start": 238, "end": 241}}]}}, "schema": []}
{"input": "These tumors are genetically characterized by B-cell leukemia/lymphoma 2 (BCL2) translocation and mutation of genes involved in chromatin modification.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 74, "end": 78}], "disease": [{"text": "translocation", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Other researchers have shown that overexpression of PKC-epsilon in fibroblasts results in tumorigenesis, and that blocking PKC-zeta function inhibits deoxyribonucleic acid synthesis.", "output": {"entities": {"gene": [{"text": "PKC-zeta", "start": 123, "end": 131}], "disease": [{"text": "tumorigenesis", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Gastrointestinal tumors with DNA mismatch repair (MMR) defects show microsatellite instability (MSI) and harbor frameshift mutations in coding mononucleotide repeats of cancer-related genes (targets).", "output": {"entities": {"gene": [{"text": "MMR", "start": 50, "end": 53}], "disease": [{"text": "microsatellite instability", "start": 68, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "To study genotype and phenotype correlation of haemophilia A in Thai patients, molecular defects of the factor VIII (FVIII) gene were examined and their correlation with clinical phenotypes were evaluated.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 117, "end": 122}], "disease": [{"text": "haemophilia A", "start": 47, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 117, "end": 122}, "tail": {"text": "haemophilia A", "start": 47, "end": 60}}]}}, "schema": []}
{"input": "Ten years after diagnosis, 35% of CD and 51% of CRD had a bull' s eye maculopathy; 70% of CRD showed absolute peripheral visual field defects and 37% of CD developed rod involvement on ERG.", "output": {"entities": {"gene": [{"text": "ERG", "start": 185, "end": 188}], "disease": [{"text": "bull' s eye maculopathy", "start": 58, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "CaSR knock-in mice exhibited low bone turnover due to the deficiency of PTH, and JTT-305/MK-5442 as well as PTH (1-34) increased bone turnover and bone mineral density (BMD) in these mice.", "output": {"entities": {"gene": [{"text": "PTH", "start": 72, "end": 75}], "disease": [{"text": "bone mineral density", "start": 147, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated kindred with ADHSP that was too small for meaningful linkage analysis.", "output": {"entities": {"gene": [{"text": "NIPA1", "start": 59, "end": 64}], "disease": [{"text": "SPG6", "start": 152, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NIPA1", "start": 59, "end": 64}, "tail": {"text": "SPG6", "start": 152, "end": 156}}]}}, "schema": []}
{"input": "Our results demonstrated for the first time that ESAT-6-and CFP-10-specific Th1, Th22 and Th17 cells existed in the patients with TBP and might play an essential role against M. tuberculosis infection.", "output": {"entities": {"gene": [{"text": "Th1", "start": 76, "end": 79}], "disease": [{"text": "tuberculosis infection", "start": 178, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the regulation and function of the key angiogenic mediator vascular endothelial growth factor (VEGF) in CAFs exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 108, "end": 112}], "disease": [{"text": "hypoxia", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Here we selected six SNPs (rs5361 in SELE, rs2066865 in FGG, rs2227589 in SERPINC1, rs1613662 in GP6, rs13146272 in CYP4V2, rs2289252 in F11) reported to be associated with venous thrombosis conditions and studied the association of these common variants in selected case (n = 177) and control (n = 235) groups from population of Latvia.", "output": {"entities": {"gene": [{"text": "SELE", "start": 37, "end": 41}], "disease": [{"text": "venous thrombosis", "start": 173, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "They were longer than any previously reported truncated XPA protein, suggesting that the minimal cutaneous symptoms in these patients are due to a higher residual level of XPA protein activity and that the subtle defect in the C-terminus of XPA protein is more closely related to neurological impairment than to cutaneous abnormalities.", "output": {"entities": {"gene": [{"text": "XPA", "start": 56, "end": 59}], "disease": [{"text": "abnormalities", "start": 322, "end": 335}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate the involvement of the SP/NK-1R system in human H-69 (SCLC) and COR-L23 (NSCLC) cell lines: (1) they express isoforms of the NK-1R and mRNA for the NK-1R; (2) they overexpress the tachykinin 1 gene; (3) the NK-1R is involved in their viability; (4) SP induces their proliferation; (5) NK-1R antagonists (Aprepitant (Emend), L-733, 060, L-732, 138) inhibit the growth of both cell lines in a concentration-dependent manner; (6) the specific antitumor action of these antagonists against such cells occurs through the NK-1R; and (7) lung cancer cell death is due to apoptosis.", "output": {"entities": {"gene": [{"text": "L23", "start": 89, "end": 92}], "disease": [{"text": "lung cancer", "start": 552, "end": 563}]}, "relations": {}}, "schema": []}
{"input": "In addition, down-regulation of N-cadherin by siRNA promoted the migration and invasion of glioma U251 and U87 cells and abolished the inhibitory effect of FRK on glioma cell migration and invasion.", "output": {"entities": {"gene": [{"text": "U87", "start": 107, "end": 110}], "disease": [{"text": "glioma", "start": 91, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Synergistic effect of non-transmissible Sendai virus vector encoding the c-myc suppressor FUSE-binding protein-interacting repressor plus cisplatin in the treatment of malignant pleural mesothelioma.", "output": {"entities": {"gene": [{"text": "FUSE-binding protein-interacting repressor", "start": 90, "end": 132}], "disease": [{"text": "mesothelioma", "start": 186, "end": 198}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FUSE-binding protein-interacting repressor", "start": 90, "end": 132}, "tail": {"text": "mesothelioma", "start": 186, "end": 198}}]}}, "schema": []}
{"input": "In this study, we investigated glucose-regulated protein 94 (GRP94) expressions in human glioma and aimed to determine the roles of GRP94 expression affects cell proliferation, invasion, and regulatory signaling in human glioma U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 228, "end": 231}], "disease": [{"text": "glioma", "start": 89, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "This is the first evidence of nuclear translocation of cathepsins B and D and the first in vivo evidence of nuclear translocation of cytochrome c. The appearance of these mitochondrial proteins and lysosomal enzymes before signs of irreversible neuronal death suggests that they could contribute to seizure-induced nuclear pyknosis and DNA fragmentation.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 133, "end": 145}], "disease": [{"text": "seizure", "start": 299, "end": 306}]}, "relations": {}}, "schema": []}
{"input": "Using somatic targeted mutagenesis, we show that mice lacking Lrh1 in granulosa cells are sterile, due to anovulation.", "output": {"entities": {"gene": [{"text": "Lrh1", "start": 62, "end": 66}], "disease": [{"text": "anovulation", "start": 106, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Lrh1", "start": 62, "end": 66}, "tail": {"text": "anovulation", "start": 106, "end": 117}}]}}, "schema": []}
{"input": "To test whether NADPH oxidase is involved in oxygen sensing, we exposed wild-type B-cell lines as well as cytb-CGD-derived B cell lines, deficient in either p22phox or gp91phox, to hypoxia (1% oxygen) or CoCl2 (100 mumol/L) and compared the mRNA levels of VEGF and aldolase with the untreated controls.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 256, "end": 260}], "disease": [{"text": "hypoxia", "start": 181, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Thus far, only 4 reports worldwide have analyzed the GGN repeat, alone or in combination with the CAG repeat, in male infertility cases.", "output": {"entities": {"gene": [{"text": "GGN", "start": 53, "end": 56}], "disease": [{"text": "male infertility", "start": 113, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "To examine whether HIF-1 is involved in the tumorigenesis of RMG-1 cells, we established HIF-1α-silenced cells, RMG-1HKD.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 19, "end": 24}], "disease": [{"text": "tumorigenesis", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Rac2-MRC-cIII-generated ROS cause genomic instability in chronic myeloid leukemia stem cells and primitive progenitors.", "output": {"entities": {"gene": [{"text": "Rac2", "start": 0, "end": 4}], "disease": [{"text": "genomic instability", "start": 34, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Mammalian homologues of Bv8, the prokineticins PK1 and PK2, and their G-protein coupled receptors prokineticin receptor 1 (PKR1) and prokineticin receptor 2 (PKR2) have been identified and linked to several biological effects as gut motility, neurogenesis, angiogenesis, circadian rhythms, hematopoiesis, and nociception.", "output": {"entities": {"gene": [{"text": "PKR2", "start": 158, "end": 162}], "disease": [{"text": "circadian rhythms", "start": 271, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "Thyroid hormone, T3-dependent phosphorylation and translocation of Trip230 from the Golgi complex to the nucleus.", "output": {"entities": {"gene": [{"text": "Trip230", "start": 67, "end": 74}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "NT5E and FcGBP as key regulators of TGF-1-induced epithelial-mesenchymal transition (EMT) are associated with tumor progression and survival of patients with gallbladder cancer.", "output": {"entities": {"gene": [{"text": "EMT", "start": 85, "end": 88}], "disease": [{"text": "tumor progression", "start": 110, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "PTEN deletions in prostate cancer are associated with tumor aggression and poor outcome.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 0, "end": 4}], "disease": [{"text": "aggression", "start": 60, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.", "output": {"entities": {"gene": [{"text": "peroxiredoxin 6", "start": 177, "end": 192}], "disease": [{"text": "HCC", "start": 333, "end": 336}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "peroxiredoxin 6", "start": 177, "end": 192}, "tail": {"text": "HCC", "start": 333, "end": 336}}]}}, "schema": []}
{"input": "Interestingly, LPA and its receptors have also been implicated in the tubular interstitial cell fibrosis (TIF) and cyst formation in autosomal dominant polycystic kidney disease (PKD).", "output": {"entities": {"gene": [{"text": "LPA", "start": 15, "end": 18}], "disease": [{"text": "autosomal dominant polycystic kidney disease", "start": 133, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The fact that the hypermutation sites and mutational spectrum of BCL6 in PMBL differ from those found in FL and DLCL might suggest that the maturation block of the transforming cells differs among these tumor types, and that the characteristic mutational pattern is present before neoplastic transformation.", "output": {"entities": {"gene": [{"text": "BCL6", "start": 65, "end": 69}], "disease": [{"text": "neoplastic transformation", "start": 281, "end": 306}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our results demonstrate that RASSF1A and p16 (INK4a) inactivation by methylation are frequent events in hepatocellular carcinoma, but not in HCA, which is in contrast to HCC without cirrhosis, viral hepatitis, storage diseases, or genetic background.", "output": {"entities": {"gene": [{"text": "INK4a", "start": 61, "end": 66}], "disease": [{"text": "viral hepatitis", "start": 208, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Given that abnormalities in the formation of synaptic junctions are thought to contribute to cognitive dysfunction during brain development, we have analyzed and compared the gene structure of the Piccolo gene, PCLO, from humans and mice and determined their chromosomal localization.", "output": {"entities": {"gene": [{"text": "PCLO", "start": 211, "end": 215}], "disease": [{"text": "abnormalities", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "In this study, we successfully constructed a triple-controlled cancer-selective oncolytic adenovirus, QG511-HA-Melittin, carrying melittin gene, in which the hybrid promoter, hypoxia-response element (HRE)-AFP promoter, was used to control viral E1a expression targeting AFP-positive cancer cells in hypoxia microenviroment, and the E1b-55 kDa gene was deleted in cancer cells with p53-deficiency.", "output": {"entities": {"gene": [{"text": "AFP", "start": 206, "end": 209}], "disease": [{"text": "hypoxia", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "It has been suggested that segmental NF results from a postzygotic NF1 gene mutation, and, recently, this hypothesis has been proven in a patient with regionally distributed café-au-lait (CAL) spots and freckles by demonstrating an NF1 microdeletion restricted to fibroblasts cultured from CAL spots.", "output": {"entities": {"gene": [{"text": "CAL", "start": 188, "end": 191}], "disease": [{"text": "freckles", "start": 203, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Presence of a p16 hit was significantly correlated with high FIGO stage (p = 0. 04), high histologic grade (p = 0. 02), estrogen receptor negativity (p = 0. 05), pathologic expression of p53 (p = 0. 02), pathologic expression of p16 (p = 0. 05) and poor survival (p = 0. 02).", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 120, "end": 137}], "disease": [{"text": "hit", "start": 18, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "We investigated the functional role of NDRG2 and its clinical relevance in RCC tumorigenesis.", "output": {"entities": {"gene": [{"text": "NDRG2", "start": 39, "end": 44}], "disease": [{"text": "tumorigenesis", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In addition, we found that CDH1 and AXIN2, which are related to the degradation and the translocation of β-catenin, are direct targets of miR-544a.", "output": {"entities": {"gene": [{"text": "CDH1", "start": 27, "end": 31}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In contrast, activating PPARγ attenuates hypoxia-induced PH and endothelin 1 (ET-1) expression.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 24, "end": 29}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Among the down-regulated genes, heat shock binding protein 21 (HBP21) was selected for further study.", "output": {"entities": {"gene": [{"text": "HBP21", "start": 63, "end": 68}], "disease": [{"text": "shock", "start": 37, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In the tubulointerstitium, interstitial expression of C5aR mRNA correlated positively with the degree of tubular atrophy and interstitial broadening in mesGN.", "output": {"entities": {"gene": [{"text": "C5aR", "start": 54, "end": 58}], "disease": [{"text": "tubular atrophy", "start": 105, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Ahr-/-mice are viable and fertile but show a spectrum of hepatic defects that indicate a role for the AHR in normal liver growth and development.", "output": {"entities": {"gene": [{"text": "AHR", "start": 102, "end": 105}], "disease": [{"text": "liver", "start": 116, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AHR", "start": 102, "end": 105}, "tail": {"text": "liver", "start": 116, "end": 121}}]}}, "schema": []}
{"input": "Pulmonary tumorigenesis was also accelerated by hemizygous inactivation of Lkb1.", "output": {"entities": {"gene": [{"text": "Lkb1", "start": 75, "end": 79}], "disease": [{"text": "tumorigenesis", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "ELA2 has also been investigated as a possible target of the leukemic fusion protein AML1-ETO resulting from the t (8; 21) chromosomal translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 84, "end": 88}], "disease": [{"text": "chromosomal translocation", "start": 122, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.", "output": {"entities": {"gene": [{"text": "POU1F1 gene", "start": 27, "end": 38}], "disease": [{"text": "pituitary hormone deficiency", "start": 73, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Thus, our study indicated that upregulation of miR-155 in circulating CD4 (+) T cells in patients with UA promoted a shift in the Th1/Th2 balance toward Th1 dominance by repressing IFN-γ Rα, which may subsequently enhance plaque instability.", "output": {"entities": {"gene": [{"text": "CD4", "start": 70, "end": 73}], "disease": [{"text": "plaque", "start": 222, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "In this study the t (14; 18) translocation was identified in 15% of diffuse large B-cell lymphomas, all but one of which exhibited positivity for CD10, bcl2 and bcl6.", "output": {"entities": {"gene": [{"text": "bcl2", "start": 152, "end": 156}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Compared with the control, IkappaBalpha adenoviral infection resulted in reduced caspase 3 activity during the early phase of viral hepatitis and in a prevention of liver cell apoptosis 24 h after adenoviral administration.", "output": {"entities": {"gene": [{"text": "IkappaBalpha", "start": 27, "end": 39}], "disease": [{"text": "viral hepatitis", "start": 126, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "This study was conducted to measure the levels of LPA and LPA-producing enzymes, autotaxin (ATX) and acylglycerol kinase (AGK) in the vitreous fluid from patients with proliferative diabetic retinopathy (PDR) and to correlate their levels with clinical disease activity and the level of vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "ATX", "start": 92, "end": 95}], "disease": [{"text": "proliferative diabetic retinopathy", "start": 168, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "We conclude that androgens may directly affect CRH neurons in the human PVN via AR binding to the CRH-ARE, which may have consequences for sex-specific pathogenesis of mood disorders.", "output": {"entities": {"gene": [{"text": "AR", "start": 80, "end": 82}], "disease": [{"text": "mood disorders", "start": 168, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AR", "start": 80, "end": 82}, "tail": {"text": "mood disorders", "start": 168, "end": 182}}]}}, "schema": []}
{"input": "In this study, we immunohistochemically investigated jab1 expression in thyroid neoplasms.", "output": {"entities": {"gene": [{"text": "jab1", "start": 53, "end": 57}], "disease": [{"text": "thyroid neoplasms", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Here we investigated the histologic changes of cementum and alveolar bone in a pycnodysostosis patient, caused by novel compound heterozygous mutations in the CTSK gene (c. 87 G & gt; A p. W29X and c. 848 A & gt; G p. Y283C).", "output": {"entities": {"gene": [{"text": "CTSK", "start": 159, "end": 163}], "disease": [{"text": "pycnodysostosis", "start": 79, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTSK", "start": 159, "end": 163}, "tail": {"text": "pycnodysostosis", "start": 79, "end": 94}}]}}, "schema": []}
{"input": "K-Ras, p53 and B-Raf mutations and RASSF1A, E-Cadherin and p16INK4A promoter methylation were investigated in 202 CRCs with and without lymph node and/or liver metastasis, to assess whether gene abnormalities are related to a metastogenic phenotype.", "output": {"entities": {"gene": [{"text": "E-Cadherin", "start": 44, "end": 54}], "disease": [{"text": "abnormalities", "start": 195, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "PAG injection of HS014 (a selective inhibitor of MC4R), not only significantly reduced the established mechanical allodynia and thermal hyperalgesia, but also delayed the development of pain facilitation.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 49, "end": 53}], "disease": [{"text": "mechanical allodynia", "start": 103, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Thus, VEGF may be induced by hypoxia through HIF-dependent and HIF-independent pathways, and K-ras also can induce VEGF in hypoxia independent of HIF-1.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 6, "end": 10}], "disease": [{"text": "hypoxia", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "This study was undertaken to evaluate the effects of the topoisomerase I inhibitor camptothecin (CPT) on collagen synthesis in the activated dermal fibroblasts from healthy donors and patients with keloid.", "output": {"entities": {"gene": [{"text": "CPT", "start": 97, "end": 100}], "disease": [{"text": "keloid", "start": 198, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.", "output": {"entities": {"gene": [{"text": "UBIAD1", "start": 17, "end": 23}], "disease": [{"text": "Schnyder crystalline corneal dystrophy", "start": 73, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBIAD1", "start": 17, "end": 23}, "tail": {"text": "Schnyder crystalline corneal dystrophy", "start": 73, "end": 111}}]}}, "schema": []}
{"input": "Implementing this systematic approach, we: (i) discovered 177 putative SZ risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain.", "output": {"entities": {"gene": [{"text": "HNRPA3", "start": 347, "end": 353}], "disease": [{"text": "SZ", "start": 71, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HNRPA3", "start": 347, "end": 353}, "tail": {"text": "SZ", "start": 71, "end": 73}}]}}, "schema": []}
{"input": "Hence, Slc4a10 is a promising pharmacological target for the therapy of epilepsy or elevated intracranial pressure.", "output": {"entities": {"gene": [{"text": "Slc4a10", "start": 7, "end": 14}], "disease": [{"text": "epilepsy", "start": 72, "end": 80}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Slc4a10", "start": 7, "end": 14}, "tail": {"text": "epilepsy", "start": 72, "end": 80}}]}}, "schema": []}
{"input": "Ewing sarcoma gene EWS encodes a putative RNA-binding protein with proposed roles in transcription and splicing, but its physiological role in vivo remains undefined.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 42, "end": 61}], "disease": [{"text": "sarcoma", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.", "output": {"entities": {"gene": [{"text": "WDR11", "start": 45, "end": 50}], "disease": [{"text": "chromosome translocation", "start": 99, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These cells exhibit elevated level of GRP78, which protects them from estrogen starvation-induced apoptosis.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 38, "end": 43}], "disease": [{"text": "starvation", "start": 79, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "MIF exerts potent proinflammatory activities and is an important cytokine of septic shock.", "output": {"entities": {"gene": [{"text": "MIF", "start": 0, "end": 3}], "disease": [{"text": "septic shock", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, erythropoietin promotes inflammatory cell apoptosis, drives inflammatory and apoptotic cells into tubular lumens, eventually leads to inflammation clearance, renoprotection and tissue remodelling through caspase-3 and IL-1 & #946; in isolated haemoperfused kidneys.", "output": {"entities": {"gene": [{"text": "erythropoietin", "start": 15, "end": 29}], "disease": [{"text": "inflammation", "start": 149, "end": 161}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "erythropoietin", "start": 15, "end": 29}, "tail": {"text": "inflammation", "start": 149, "end": 161}}]}}, "schema": []}
{"input": "In the HPV-negative patients (n = 221), heavy alcohol consumption was significantly associated with SCNAs of oncogenes/oncosuppressors that were previously reported to occur frequently in HNSCCs: CDKN2A (q = 0. 005), FHIT (q = 0. 005), 11q13 region including CCND1, FADD and CTTN (q = 0. 005), ERBB2 (HER2) (q = 0. 009), 3q25-qter including CCNL1, TP63, DCUN1D1 and PIK3CA (q = 0. 014), and CSMD1 (q = 0. 019).", "output": {"entities": {"gene": [{"text": "FHIT", "start": 217, "end": 221}], "disease": [{"text": "alcohol consumption", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Scoparia dulcis plant extract (SPEt, 200 mg kg-1 day-1) and glibenclamide (600 microg kg-1 day-1), a reference drug, were administered by gavage for 6 weeks to diabetic rats (N = 6 for each group) and significantly reduced blood glucose, sorbitol dehydrogenase, glycosylated hemoglobin, TBARS, and hydroperoxides, and significantly increased plasma insulin, GPx, GST and GSH activities in liver.", "output": {"entities": {"gene": [{"text": "sorbitol dehydrogenase", "start": 238, "end": 260}], "disease": [{"text": "hemoglobin", "start": 275, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "We apply HBE algorithm to some well known data sets such as leukemia, prostate cancer, diffuse large B-cell lymphoma (DLBCL), small round blue cell tumors (SRBCT) to find some predictor genes that can be utilized for diagnosis and prognosis in a robust manner with a high accuracy.", "output": {"entities": {"gene": [{"text": "HBE", "start": 9, "end": 12}], "disease": [{"text": "prostate cancer", "start": 70, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We show that hypoxia, through hypoxia-inducible factor (HIF), can induce an hESC-like transcriptional program, including the induced pluripotent stem cell (iPSC) inducers, OCT4, NANOG, SOX2, KLF4, cMYC, and microRNA-302 in 11 cancer cell lines (from prostate, brain, kidney, cervix, lung, colon, liver, and breast tumors).", "output": {"entities": {"gene": [{"text": "SOX2", "start": 185, "end": 189}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "A retrospective study was performed on material obtained from oral mucosa, including nine cases of normal mucosa (NB), eight cases of nonspecific chronic inflammation (NCI), seven cases of hyperkeratosis (HK), five cases of squamous cell papilloma (SCP), 29 cases of squamous cell carcinoma (SCC) with various grades of differentiation and 10 cases of epithelium adjacent to carcinoma (EAC).", "output": {"entities": {"gene": [{"text": "SCP", "start": 249, "end": 252}], "disease": [{"text": "hyperkeratosis", "start": 189, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Here, we screened a cohort of 14 early-onset sporadic ALS patients (onset age < 35 years) to determine the frequency of mutations in C9orf72, SOD1, and FUS in this defined patient cohort.", "output": {"entities": {"gene": [{"text": "FUS", "start": 152, "end": 155}], "disease": [{"text": "sporadic", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "This study shows a carrier frequency of 2. 5% of pathogenic mutations in the MC4R gene in a population-based study of obese men.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 77, "end": 81}], "disease": [{"text": "obese", "start": 118, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MC4R", "start": 77, "end": 81}, "tail": {"text": "obese", "start": 118, "end": 123}}]}}, "schema": []}
{"input": "Allele frequencies of interleukin (IL)-1 cluster genes [IL-1A (-889), IL-1B (-511), IL-1B (+ 3953), IL-1RN Intron 2 VNTR] and tissue necrosis factor (TNF)-alpha gene [TNFA (-308)] were measured in healthy blood donors (healthy control subjects), patients with angiographically normal coronary arteries (patient control subjects), single-vessel coronary disease (SVD), and those with multivessel coronary disease (MVD).", "output": {"entities": {"gene": [{"text": "MVD", "start": 413, "end": 416}], "disease": [{"text": "necrosis", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Sequence analysis of the ABC1 gene revealed that the proband for Tangier disease was homozygous for a deletion of nucleotides 3283 and 3284 (TC) in exon 22.", "output": {"entities": {"gene": [{"text": "ABC1", "start": 25, "end": 29}], "disease": [{"text": "Tangier disease", "start": 65, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABC1", "start": 25, "end": 29}, "tail": {"text": "Tangier disease", "start": 65, "end": 80}}]}}, "schema": []}
{"input": "Gitelman syndrome due to p. A204T mutation in CLCNKB gene.", "output": {"entities": {"gene": [{"text": "CLCNKB", "start": 46, "end": 52}], "disease": [{"text": "Gitelman syndrome", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLCNKB", "start": 46, "end": 52}, "tail": {"text": "Gitelman syndrome", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "We observed that LysM. Rac1 KO mice showed higher vertebral bone mineral density compared to WT in both control and ovariectomized groups.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 23, "end": 27}], "disease": [{"text": "bone mineral density", "start": 60, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Parallel ex vivo experiments showed that either infection with a dominant-negative Akt adenovirus or preincubation of cardiomyocytes with the phosphatidylinositol 3-kinase inhibitors significantly attenuated the protective effects of Hsp20.", "output": {"entities": {"gene": [{"text": "Hsp20", "start": 234, "end": 239}], "disease": [{"text": "adenovirus", "start": 87, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "MSP results were as follows: loss of XAF1 expression was found in three of four esophageal cell lines with promoter region hypermethylation (completely methylated in KYSE30, KYSE70 and BIC1 cell lines and partially in TE3 cells); all nine cases of normal esophageal mucosa were unmethylated; and 54/72 (75. 00%) samples from patients with esophageal cancer were methylated, and 25/72 (34. 70%) matched adjacent tissues were methylated (75. 00% vs 34. 70%, χ (2) = 23. 5840, P = 0. 000).", "output": {"entities": {"gene": [{"text": "MSP", "start": 0, "end": 3}], "disease": [{"text": "esophageal", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "This is the first report on LMX1B mutation identified in a patient with NPLRD.", "output": {"entities": {"gene": [{"text": "LMX1B", "start": 28, "end": 33}], "disease": [{"text": "NPLRD", "start": 72, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMX1B", "start": 28, "end": 33}, "tail": {"text": "NPLRD", "start": 72, "end": 77}}]}}, "schema": []}
{"input": "We investigated 40 infants with cyanotic or acyanotic cardiac defects, as well as H9c2 embryonic rat cardiomyocytes, to examine the effect of hypoxia on the expression or activation of SOCS3, STAT3 and NF-κB in vivo and in vitro.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 185, "end": 190}], "disease": [{"text": "cardiac defects", "start": 54, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "This unique case confirms S. intermedius pulmonary infection as the source of metastatic CNS infection and reveals the potential of PCR/ESI-MS to detect a streptococcal pathogen not captured by conventional cultures.", "output": {"entities": {"gene": [{"text": "ESI", "start": 136, "end": 139}], "disease": [{"text": "pulmonary infection", "start": 41, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The ROD ratio of MAT1 to nm23H1 increased with the development of metastasis.", "output": {"entities": {"gene": [{"text": "MAT1", "start": 17, "end": 21}], "disease": [{"text": "metastasis", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "As a consequence, our study has implications for the screening of hemochromatosis patients that have one or two copies of HFE which lack the main mutations.", "output": {"entities": {"gene": [{"text": "HFE", "start": 122, "end": 125}], "disease": [{"text": "hemochromatosis", "start": 66, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HFE", "start": 122, "end": 125}, "tail": {"text": "hemochromatosis", "start": 66, "end": 81}}]}}, "schema": []}
{"input": "Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 25, "end": 29}], "disease": [{"text": "central core disease", "start": 103, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 25, "end": 29}, "tail": {"text": "central core disease", "start": 103, "end": 123}}]}}, "schema": []}
{"input": "Recently, IL-5 mRNA has been identified in eosinophils from patients with celiac disease, eosinophilic heart diseases, and asthma.", "output": {"entities": {"gene": [{"text": "IL-5", "start": 10, "end": 14}], "disease": [{"text": "heart diseases", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Our data show that new mutations may occur in the androgen receptor gene leading to sporadic androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 50, "end": 67}], "disease": [{"text": "androgen insensitivity syndrome", "start": 93, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 50, "end": 67}, "tail": {"text": "androgen insensitivity syndrome", "start": 93, "end": 124}}]}}, "schema": []}
{"input": "New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.", "output": {"entities": {"gene": [{"text": "FTSJD1", "start": 60, "end": 66}], "disease": [{"text": "ADC", "start": 75, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FTSJD1", "start": 60, "end": 66}, "tail": {"text": "ADC", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "So far, only two mutations in the CHRNA4 gene (in three studies) and one mutation in the CHRNB2 gene had been identified in the patients with sporadic nocturnal frontal lobe epilepsy (NFLE).", "output": {"entities": {"gene": [{"text": "CHRNB2 gene", "start": 89, "end": 100}], "disease": [{"text": "sporadic", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we demonstrate that on the mRNA level hypoxic stimulation of HepG2 cells led to (i) an induction of the positive AP reactants alpha 1-antitrypsin, alpha 1-antichymotrypsin, complement C3, haptoglobin, and alpha 1-acid glycoprotein; (ii) a down-regulation of the negative AP reactant albumin; (iii) an up-regulation of the negative AP reactant transferrin; and (iv) unchanged levels of the positive AP reactants alpha-and beta-fibrinogen as well as hemopexin.", "output": {"entities": {"gene": [{"text": "hemopexin", "start": 470, "end": 479}], "disease": [{"text": "fibrinogen", "start": 448, "end": 458}]}, "relations": {}}, "schema": []}
{"input": "Case 1 revealed peripapillary and central atrophy with heterozygous ABCA4 mutations P1380L and IVS40 + 5G > A.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 68, "end": 73}], "disease": [{"text": "atrophy", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The size of the aneuploid fraction (> 60%) in the primary tumour may influence the risk of having both SLN and non-SLN metastases.", "output": {"entities": {"gene": [{"text": "SLN", "start": 103, "end": 106}], "disease": [{"text": "aneuploid", "start": 16, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "IL-4 deficiency greatly reduced, but did not eliminate, TSLP-induced airway hyperresponsiveness, airway inflammation, eosinophilia, and goblet cell metaplasia, while Stat6 deficiency eliminated these asthma-like symptoms.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 56, "end": 60}], "disease": [{"text": "metaplasia", "start": 148, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.", "output": {"entities": {"gene": [{"text": "RNF13", "start": 13, "end": 18}], "disease": [{"text": "Failure to Thrive", "start": 131, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RNF13", "start": 13, "end": 18}, "tail": {"text": "Failure to Thrive", "start": 131, "end": 148}}]}}, "schema": []}
{"input": "We sequenced the complete MC4R coding region, the region of the proopiomelanocortin gene (POMC) encoding the alpha melanocyte-stimulating hormone, and the leptin-binding domain of LEPR in 469 severely obese white subjects (370 women and 99 men; mean [+/-SE] age, 41. 0 +/-0. 5 years; body-mass index [the weight in kilograms divided by the square of the height in meters], 44. 1 +/-2. 0).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 180, "end": 184}], "disease": [{"text": "weight", "start": 305, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.", "output": {"entities": {"gene": [{"text": "OCRL1", "start": 55, "end": 60}], "disease": [{"text": "Lowe syndrome", "start": 69, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCRL1", "start": 55, "end": 60}, "tail": {"text": "Lowe syndrome", "start": 69, "end": 82}}]}}, "schema": []}
{"input": "The spinal motor neurons lacking transactive response DNA-binding protein 43 were not affected for 1 year, but exhibited atrophy at the age of 100 weeks; whereas, extraocular motor neurons, that are essentially resistant in amyotrophic lateral sclerosis, remained preserved even at the age of 100 weeks.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 54, "end": 73}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 224, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxic conditions, inhibition of HIF-1 alpha gene expression by a specific siRNA resulted in a significant reduction in HIF-1 alpha and VEGF mRNA levels (P < 0. 05).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 143, "end": 147}], "disease": [{"text": "hypoxic", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, elevated SLP-2 expression is an independent prognostic factor in multivariate analysis using the Cox regression model (p = 0. 005).", "output": {"entities": {"gene": [{"text": "SLP-2", "start": 22, "end": 27}], "disease": [{"text": "regression", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We describe EA2 with unusual features in a father and daughter with a novel CACNA1A mutation coding for Y248C.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 76, "end": 83}], "disease": [{"text": "EA2", "start": 12, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 76, "end": 83}, "tail": {"text": "EA2", "start": 12, "end": 15}}]}}, "schema": []}
{"input": "We have recently shown that although a majority of human neuroblastomas (NBs), a childhood cancer, express high levels of CD44H, high stages and tumors with amplification of the NMYC proto-oncogene fail to express CD44.", "output": {"entities": {"gene": [{"text": "CD44", "start": 122, "end": 126}], "disease": [{"text": "childhood cancer", "start": 81, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "N-myc downstream regulated gene-1 (NDRG1) is a potent metastasis suppressor in many solid tumor types, including prostate and colon cancer.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 0, "end": 5}], "disease": [{"text": "colon cancer", "start": 126, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "To identify the genes involved in cervical carcinogenesis, we applied the mRNA differential display method and identified a candidate tumor suppressor gene, HCCS-1, which was present in normal cervical tissue but absent in cervical cancer, metastatic lymph node and CUMC-6 cervical cancer cell line.", "output": {"entities": {"gene": [{"text": "HCCS-1", "start": 157, "end": 163}], "disease": [{"text": "carcinogenesis", "start": 43, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Risk alleles were largely enriched in mucoepidermoid carcinoma, in which the SNPs in CHRNA2, OR4F15, and ZNF343 had ORs of 15. 71 (95% CI, 6. 59-37. 47 [P = 5. 2 × 10 (-10)]), 15. 60 (95% CI, 6. 50-37. 41 [P = 7. 5 × 10 (-10)]), and 6. 49 (95% CI, 3. 36-12. 52 [P = 2. 5 × 10 (-8)]), respectively.", "output": {"entities": {"gene": [{"text": "CHRNA2", "start": 85, "end": 91}], "disease": [{"text": "mucoepidermoid carcinoma", "start": 38, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Isolated blepharospasm (BSP) is a late-onset focal dystonia characterized by involuntary contractions of the orbicularis oculi muscles.", "output": {"entities": {"gene": [{"text": "BSP", "start": 24, "end": 27}], "disease": [{"text": "focal dystonia", "start": 45, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "HIF-1α/GPER signaling mediates the expression of VEGF induced by hypoxia in breast cancer associated fibroblasts (CAFs).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxia", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Fatty acid oxidation and malonyl-CoA decarboxylase in the vascular remodeling of pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "malonyl-CoA decarboxylase", "start": 25, "end": 50}], "disease": [{"text": "pulmonary hypertension", "start": 81, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Cell cycle regulatory gene analysis showed increased protein levels of cyclin A, cyclin B, Chk2, Cdk2, and P27 in hepatoma cells after time courses of emodin treatment, and Western blot analysis showed decreased protein levels of Cdc25c and P21.", "output": {"entities": {"gene": [{"text": "Cdk2", "start": 97, "end": 101}], "disease": [{"text": "hepatoma", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to assess the ability of different interleukins (IL), IL-2, IL-12 and IL-21, produced by transduced glioma cells to activate an immune response and trigger intracranial tumor rejection.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 96, "end": 101}], "disease": [{"text": "glioma", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Diagnostic testing and genetic counseling are complicated by the reduced penetrance, which often makes the inheritance appear recessive or sporadic, and by interfamilial differences in the length of a stable (CTA) n tract preceding the CTG repeat.", "output": {"entities": {"gene": [{"text": "CTA", "start": 209, "end": 212}], "disease": [{"text": "sporadic", "start": 139, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In vitro analysis of genomic instability triggered by BRCA1 missense mutations.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 54, "end": 59}], "disease": [{"text": "genomic instability", "start": 21, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest the alteration of HDAC5 and CREB gene expression in the systemic pathophysiology of major depression.", "output": {"entities": {"gene": [{"text": "HDAC5", "start": 38, "end": 43}], "disease": [{"text": "major depression", "start": 104, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC5", "start": 38, "end": 43}, "tail": {"text": "major depression", "start": 104, "end": 120}}]}}, "schema": []}
{"input": "Recombinant IFN-γ administration is licensed for the prophylaxis of infection (bacterial and fungal) in patients with the phagocyte functional deficiency syndrome chronic granulomatous disease, although the benefits appear limited.", "output": {"entities": {"gene": [{"text": "IFN", "start": 12, "end": 15}], "disease": [{"text": "chronic granulomatous disease", "start": 163, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Our goal is to describe three unrelated Italian patients affected by HDLS and carrying new CSF1R mutations, thus expanding the mutational spectrum and phenotypic presentation.", "output": {"entities": {"gene": [{"text": "CSF1R", "start": 91, "end": 96}], "disease": [{"text": "HDLS", "start": 69, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CSF1R", "start": 91, "end": 96}, "tail": {"text": "HDLS", "start": 69, "end": 73}}]}}, "schema": []}
{"input": "A pericentric inv (9) (p22q34) of the derivative chromosome 9 that resulted from a standard t (9; 22) (q34; q11. 2) was identified by R-banding karyotypic analysis and fluorescence in situ hybridization (FISH) assays in 4 (0. 18%) of 2, 200 Philadelphia chromosome (Ph)-positive leukemia patients, including 3 with chronic myeloid leukemia (CML) in chronic phase and 1 with acute myeloid leukemia (AML) in our hospital since 2004.", "output": {"entities": {"gene": [{"text": "FISH", "start": 204, "end": 208}], "disease": [{"text": "leukemia", "start": 279, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that genetic variability in the leptin receptor is associated with body weight regulation, the LEPR p. Q223R variant being related to BMI increase.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 115, "end": 119}], "disease": [{"text": "body weight", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Associations between blood pressure (BP) change after Na (+)-load and 15 SNPs spanning the length of CLCNKA and CLCNKB and six SNPs spanning the length of BSND were studied in 314 never treated essential hypertensives who underwent an i. v.", "output": {"entities": {"gene": [{"text": "CLCNKA", "start": 101, "end": 107}], "disease": [{"text": "blood pressure", "start": 21, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Transvaginal amniotic puncture (TAP) was performed on 20 consecutive missed abortions immediately prior to dilatation and evacuation and the cytogenetic results compared.", "output": {"entities": {"gene": [{"text": "TAP", "start": 32, "end": 35}], "disease": [{"text": "dilatation", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In older adults factor V Leiden is not a risk factor for future arterial thrombosis.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 16, "end": 31}], "disease": [{"text": "arterial thrombosis", "start": 64, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Four hours after preconditioning with Epo intraperitoneally, pilocarpine hydrochloride was administered intraperitoneally and observed for behavioral manifestations of SE.", "output": {"entities": {"gene": [{"text": "Epo", "start": 38, "end": 41}], "disease": [{"text": "SE", "start": 168, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Epo", "start": 38, "end": 41}, "tail": {"text": "SE", "start": 168, "end": 170}}]}}, "schema": []}
{"input": "Low-density lipoprotein receptor-related protein1 (LRP1) and alpha-2-macroglobulin (A2M) are candidate genes for sporadic Alzheimer' s disease (SAD).", "output": {"entities": {"gene": [{"text": "LRP1", "start": 51, "end": 55}], "disease": [{"text": "sporadic", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, p38 MAPK and JNK pathways play an important role in VEGF secretion from malignant glioma cells under normoxic conditions, possibly contributing to VEGF-induced angiogenesis in malignant gliomas at vital tumor areas where there is no hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 67, "end": 71}], "disease": [{"text": "hypoxia", "start": 248, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from' gain-of-function' mutations of the glutamate dehydrogenase (GlDH) gene, GLUD1.", "output": {"entities": {"gene": [{"text": "GLUD1", "start": 153, "end": 158}], "disease": [{"text": "hyperinsulinism-hyperammonemia syndrome", "start": 4, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUD1", "start": 153, "end": 158}, "tail": {"text": "hyperinsulinism-hyperammonemia syndrome", "start": 4, "end": 43}}]}}, "schema": []}
{"input": "Pyk2 aggravates hypoxia-induced pulmonary hypertension by activating HIF-1α.", "output": {"entities": {"gene": [{"text": "Pyk2", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Loss-of-function mutations in the FSHB/Fshb gene cause hypogonadotropic hypogonadism in humans and mice.", "output": {"entities": {"gene": [{"text": "FSHB", "start": 34, "end": 38}], "disease": [{"text": "hypogonadotropic hypogonadism", "start": 55, "end": 84}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FSHB", "start": 34, "end": 38}, "tail": {"text": "hypogonadotropic hypogonadism", "start": 55, "end": 84}}]}}, "schema": []}
{"input": "A 26-year-old woman with mild DM-EBS with prominent palmoplantar hyperkeratosis and without active blister formation had a novel R125G mutation in keratin 14.", "output": {"entities": {"gene": [{"text": "keratin 14", "start": 147, "end": 157}], "disease": [{"text": "DM", "start": 30, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 14", "start": 147, "end": 157}, "tail": {"text": "DM", "start": 30, "end": 32}}]}}, "schema": []}
{"input": "Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.", "output": {"entities": {"gene": [{"text": "BCHE", "start": 171, "end": 175}], "disease": [{"text": "Butyrylcholinesterase deficiency", "start": 0, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCHE", "start": 171, "end": 175}, "tail": {"text": "Butyrylcholinesterase deficiency", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "In three rare cases of human morbid obesity, the discovery of mutations in the leptin and leptin receptor genes shows that leptin plays a crucial role in the control of weight and several endocrine functions (particularly reproduction).", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 90, "end": 105}], "disease": [{"text": "weight", "start": 169, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether mutations in the STK11/LKB1 gene and genes implicated in the colorectal adenoma-carcinoma sequence are involved in Peutz-Jeghers syndrome (PJS) related tumorigenesis.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 46, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 175, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "The dilated cardiomyopathy with ataxia syndrome is a rare autosomal recessive multisystem disorder caused by mutations in DNAJC19.", "output": {"entities": {"gene": [{"text": "DNAJC19", "start": 122, "end": 129}], "disease": [{"text": "dilated cardiomyopathy with ataxia syndrome", "start": 4, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNAJC19", "start": 122, "end": 129}, "tail": {"text": "dilated cardiomyopathy with ataxia syndrome", "start": 4, "end": 47}}]}}, "schema": []}
{"input": "EMT is characterized by gain of mesenchymal characteristics and invasiveness accompanied by loss of cell polarity, with an increasing number of studies focusing on the direct involvement of androgen-AR signaling axis in EMT, tumor progression, and therapeutic resistance.", "output": {"entities": {"gene": [{"text": "EMT", "start": 0, "end": 3}], "disease": [{"text": "tumor progression", "start": 225, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Expression of PAR-1 and PAR-2 was observed in all types of scar.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 14, "end": 19}], "disease": [{"text": "scar", "start": 59, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We report another case of a microdeletion with involvement of the NFIA gene in the short arm of chromosome 1 (del (1) (p31. 3p32. 2)) with, amongst other features, hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features.", "output": {"entities": {"gene": [{"text": "p31", "start": 119, "end": 122}], "disease": [{"text": "dysmorphic features", "start": 221, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "To examine the effects of Gli2 on breast cancer-mediated osteolysis in vivo, athymic nude mice were inoculated with MDA-MB-231 cells stably expressing Gli2 or the empty vector.", "output": {"entities": {"gene": [{"text": "Gli2", "start": 26, "end": 30}], "disease": [{"text": "osteolysis", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Moreover, when endoplasmic reticulum-targeted bcl-2 protein is overexpressed in cells, this protein lost the capability to synergize with hypoxia to induce the proangiogenic HIF-1/VEGF axis as shown by wild-type bcl-2 protein.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 180, "end": 184}], "disease": [{"text": "hypoxia", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The study identified presence of novel pathogenic MEN1 mutations in sporadic cases of insulinoma.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 50, "end": 54}], "disease": [{"text": "insulinoma", "start": 86, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 50, "end": 54}, "tail": {"text": "insulinoma", "start": 86, "end": 96}}]}}, "schema": []}
{"input": "In conclusion, impaired PI 3-kinase activity in GLUT1-containing membrane vesicles derived from fibroblasts of VH is associated with a defective docking and/or fusion process of glucose transporters with the plasma membrane and thus might contribute to the molecular defect causing insulin resistance in this patient.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 48, "end": 53}], "disease": [{"text": "insulin resistance", "start": 282, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "Association of common variants in NPPA and NPPB with blood pressure does not translate into kidney damage in a general population study.", "output": {"entities": {"gene": [{"text": "NPPA", "start": 34, "end": 38}], "disease": [{"text": "kidney damage", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We cloned a novel AML1 partner gene, PRDX4, in an X; 21 translocation in a 74-year-old male patient diagnosed with acute myeloid leukemia-M2.", "output": {"entities": {"gene": [{"text": "AML1", "start": 18, "end": 22}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Our study aims were to evaluate the associations of NFKB1 rs28362491 polymorphism and interactions of this single-nucleotide polymorphism (SNP) and PPP1R13L and CD3EAP and smoking duration in relation to lung cancer risk in a Chinese population.", "output": {"entities": {"gene": [{"text": "CD3EAP", "start": 161, "end": 167}], "disease": [{"text": "smoking", "start": 172, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "The role of dopamine, dynorphin, and CART systems in the ventral striatum and amygdala in cocaine abuse.", "output": {"entities": {"gene": [{"text": "CART", "start": 37, "end": 41}], "disease": [{"text": "cocaine abuse", "start": 90, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CART", "start": 37, "end": 41}, "tail": {"text": "cocaine abuse", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "The gene of the nuclear receptor coactivator AIB1 (amplified in breast cancer 1) is amplified in breast cancer cell lines as well as in breast tumor tissues.", "output": {"entities": {"gene": [{"text": "amplified in breast cancer 1", "start": 51, "end": 79}], "disease": [{"text": "breast tumor", "start": 136, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "The body mass index (BMI) and the circulating levels of chemerin and other inflammatory, adiposity and insulin resistance markers were assessed in female and male adults of varying degree of obesity.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 56, "end": 64}], "disease": [{"text": "insulin resistance", "start": 103, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Forty-five different tumour sites from the 12 RER + carcinomas were analysed for BAX mutations at the [(G) 8] tract in exon 3.", "output": {"entities": {"gene": [{"text": "RER", "start": 46, "end": 49}], "disease": [{"text": "carcinomas", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "This suggests that, in addition to its role in caries defense, SAG may serve as a potential tumor indicator and/or tumor suppressor in salivary gland tissue.", "output": {"entities": {"gene": [{"text": "SAG", "start": 63, "end": 66}], "disease": [{"text": "caries", "start": 47, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In addition, stromelysin-3 mRNA and protein colocalized with CD40L and CD40 within atheroma.", "output": {"entities": {"gene": [{"text": "CD40", "start": 61, "end": 65}], "disease": [{"text": "atheroma", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The Akt inhibitor, triciribine, ameliorates chronic hypoxia-induced vascular pruning and TGFβ-induced pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 89, "end": 93}], "disease": [{"text": "hypoxia", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "A three-dimensional model for the BTK kinase domain, based on the core structure of cAMP-dependent protein kinase, was used to interpret the structural basis for disease in eight independent point mutations in patients with XLA.", "output": {"entities": {"gene": [{"text": "BTK", "start": 34, "end": 37}], "disease": [{"text": "XLA", "start": 224, "end": 227}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BTK", "start": 34, "end": 37}, "tail": {"text": "XLA", "start": 224, "end": 227}}]}}, "schema": []}
{"input": "Tretinoin appeared to reverse the abnormal expression profile of MMPs in keloid-derived fibroblasts, such as markedly elevated expression of MMP-13, partly through inactivation of AP-1 pathway.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 180, "end": 184}], "disease": [{"text": "keloid", "start": 73, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "CHRNA2", "start": 104, "end": 110}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNA2", "start": 104, "end": 110}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 32, "end": 49}], "disease": [{"text": "partial androgen insensitivity syndrome", "start": 73, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 32, "end": 49}, "tail": {"text": "partial androgen insensitivity syndrome", "start": 73, "end": 112}}]}}, "schema": []}
{"input": "EMT also promotes malignant tumor progression and the maintenance of the stem cell property, which endows cancer cells with the capabilities of self-renewal and immortalized proliferation.", "output": {"entities": {"gene": [{"text": "EMT", "start": 0, "end": 3}], "disease": [{"text": "tumor progression", "start": 28, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Morphological findings showed an increase of cellularity with positive GFAP and EGFR expression, increase of proliferate index, vascular hyperplasia with glomeruloid structures and necrosis.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 71, "end": 75}], "disease": [{"text": "hyperplasia", "start": 137, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Recent studies showed that NQO1 is an important enzyme for stabilizing p53 protein, which is involved in anti-tumorigenesis.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 27, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We found by RNA interference experiments that HIF-2alpha plays a minor role in VEGF gene upregulation under hypoxia or CoCl (2) treatment, even when both HIFs are similarly bound to the promoter region.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 79, "end": 83}], "disease": [{"text": "hypoxia", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Stable transfectants of the LGR7-positive human follicular thyroid carcinoma cell lines FTC-133 and FTC-238 that secrete bioactive proRLN2 revealed this hormone to act as a multifunctional endocrine factor in thyroid carcinoma cells.", "output": {"entities": {"gene": [{"text": "LGR7", "start": 28, "end": 32}], "disease": [{"text": "follicular thyroid carcinoma", "start": 48, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population.", "output": {"entities": {"gene": [{"text": "SAPAP3", "start": 14, "end": 20}], "disease": [{"text": "trichotillomania", "start": 83, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrated that the treatment of these nude mice with CNP significantly inhibited tumor growth and induced tumor necrosis.", "output": {"entities": {"gene": [{"text": "CNP", "start": 68, "end": 71}], "disease": [{"text": "tumor necrosis", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Alsin mutations are responsible for a primitive, retrograde degeneration of the upper motor neurons of the pyramidal tracts, leading to a clinical continuum from infantile (IAHSP) to juvenile forms with (ALS2) or without (JPLS) lower motor-neuron involvement.", "output": {"entities": {"gene": [{"text": "ALS2", "start": 204, "end": 208}], "disease": [{"text": "retrograde degeneration", "start": 49, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The viral load was negatively correlated with Vit D and active Vit D (r =-0. 084 and-0. 846 at P < 0. 001, respectively), and positively correlated with IL-17, IL-23 and PIIINP (r = 0. 951, 0. 922 and 0. 94 at P < 0. 001, respectively).", "output": {"entities": {"gene": [{"text": "IL-17", "start": 153, "end": 158}], "disease": [{"text": "viral load", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "We evaluated a cohort of 58 patients treated with TMZ for progression after RT of a previous LGA and investigated the relation between outcome and mutations in the IDH1, IDH2, and TP53 genes, O⁶-methylguanine-methyltransferase (MGMT) promoter methylation, trisomy of chromosome 7, and loss of chromosomes 1p and 19q.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 164, "end": 168}], "disease": [{"text": "trisomy", "start": 256, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "VEGF and OPN expression was abrogated upon SF monocytic cell reoxygenation and maintained by exposure to prolonged hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "However, when stained with beta-amyloid precursor protein, multifocal axonal injury was evident in the brain, spinal cord, and nerve roots.", "output": {"entities": {"gene": [{"text": "beta-amyloid precursor protein", "start": 27, "end": 57}], "disease": [{"text": "brain", "start": 103, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-amyloid precursor protein", "start": 27, "end": 57}, "tail": {"text": "brain", "start": 103, "end": 108}}]}}, "schema": []}
{"input": "Of the eight cases analyzed with fluorescence in situ hybridization (FISH) for MALT1 translocation, two demonstrated MALT1 gene genetic abnormality.", "output": {"entities": {"gene": [{"text": "MALT1 gene", "start": 117, "end": 127}], "disease": [{"text": "translocation", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Roscovitine, an inhibitor of CDK5, enhanced Ca2 +-dependent (cadherin-dependent) aggregation of HaCaT cells whereas it inhibited adhesion of HaCaT cells to fibronectin associated with reduced active states of beta1 integrin.", "output": {"entities": {"gene": [{"text": "CDK5", "start": 29, "end": 33}], "disease": [{"text": "adhesion", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P < 0. 01.", "output": {"entities": {"gene": [{"text": "VCAM1", "start": 87, "end": 92}], "disease": [{"text": "meningioma", "start": 193, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The phenotype caused by human genetic insulin-like growth factor-I (IGF-I) defects is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 68, "end": 73}], "disease": [{"text": "postnatal growth retardation", "start": 139, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "It is of great interest that prostaglandin-endoperoxide synthase 2, tyrosine hydroxylase, Cart, Homer1 and glutamate decarboxylase have already been implicated in affective disorders by different approaches in previous reports.", "output": {"entities": {"gene": [{"text": "glutamate decarboxylase", "start": 107, "end": 130}], "disease": [{"text": "affective disorders", "start": 163, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glutamate decarboxylase", "start": 107, "end": 130}, "tail": {"text": "affective disorders", "start": 163, "end": 182}}]}}, "schema": []}
{"input": "The findings of the present study showed, for the first time, the role of the OSR1 rs12329305 polymorphism in the development of congenital malformations in cases of stillborn/neonatal death, particularly in those with congenital kidney and heart developmental defects.", "output": {"entities": {"gene": [{"text": "OSR1", "start": 78, "end": 82}], "disease": [{"text": "neonatal death", "start": 176, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "A patient with Scott syndrome, which results from a defect in phospholipid scrambling activity, was found to carry a mutation at a splice-acceptor site of the gene encoding TMEM16F, causing the premature termination of the protein.", "output": {"entities": {"gene": [{"text": "TMEM16F", "start": 173, "end": 180}], "disease": [{"text": "Scott syndrome", "start": 15, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM16F", "start": 173, "end": 180}, "tail": {"text": "Scott syndrome", "start": 15, "end": 29}}]}}, "schema": []}
{"input": "We performed a study of the distribution of PrP27-30, the proteinase-K-resistant form of prion protein, in the central and peripheral nervous system of a patient with a Glu200Lys mutation of the prion protein gene, cerebellar ataxia, subcortical dementia, rigidity, and demyelinating peripheral neuropathy.", "output": {"entities": {"gene": [{"text": "prion protein", "start": 89, "end": 102}], "disease": [{"text": "subcortical dementia", "start": 234, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the role of MIF in progression of liver fibrosis, the immunohistochemical localization of MIF and macrophages in the liver were examined.", "output": {"entities": {"gene": [{"text": "MIF", "start": 25, "end": 28}], "disease": [{"text": "liver fibrosis", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Site-directed mutagenesis of either the predicted HRE or the bile acid responsive FXR binding site abolished inducibility of the OSTα promoter, indicating that both elements need to be intact for induction by hypoxia and CDCA.", "output": {"entities": {"gene": [{"text": "FXR", "start": 82, "end": 85}], "disease": [{"text": "hypoxia", "start": 209, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of PLCB3 in the neuroendocrine tumorigenesis, we transfected a PLCB3 construct to three neuroendocrine tumor cell lines with a low PLCB3 expression.", "output": {"entities": {"gene": [{"text": "PLCB3", "start": 27, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "p63 steps into the limelight: crucial roles in the suppression of tumorigenesis and metastasis.", "output": {"entities": {"gene": [{"text": "p63", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "SMC3 with retained acetylation is loaded onto chromatin, and chromatin immunoprecipitation sequencing analysis demonstrates decreased occupancy of cohesin localization sites that results in a consistent pattern of altered transcription seen in CdLS cell lines with either NIPBL or HDAC8 mutations.", "output": {"entities": {"gene": [{"text": "HDAC8", "start": 281, "end": 286}], "disease": [{"text": "CdLS", "start": 244, "end": 248}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HDAC8", "start": 281, "end": 286}, "tail": {"text": "CdLS", "start": 244, "end": 248}}]}}, "schema": []}
{"input": "Pathphysiologically, an ideal control system for VEGF gene expression is letting it respond to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxia", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The most common chromosomal abnormalities in CLL, using conventional and molecular cytogenetics, are trisomy 12, del (13) (q14), del (11) (q22-23), del (17) (p13), and del (6) (q21).", "output": {"entities": {"gene": [{"text": "p13", "start": 158, "end": 161}], "disease": [{"text": "trisomy 12", "start": 101, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In this analysis, we investigated the relation between common genetic variation in IGF1, IGFBP1, and IGFBP3, and mammographic density among 819 women of Hawaiian, European, and Japanese ancestry from the Multiethnic Cohort Study.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 83, "end": 87}], "disease": [{"text": "mammographic density", "start": 113, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We conclude that MVD, CA-IX, and HIF-1alpha expression are not independent prognostic markers for recurrent endometrial carcinoma.", "output": {"entities": {"gene": [{"text": "MVD", "start": 17, "end": 20}], "disease": [{"text": "recurrent endometrial carcinoma", "start": 98, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "METHODS: We compared clinicopathologic factors, including age, sex, WBC count, cerebrospinal fluid (CSF) involvement, immunophenotype, and blast proliferation rate between B-ALL with RUNX1 amplification (10 cases) and B-ALL with ETV6-RUNX1 translocation (67 cases) in childhood B-ALL.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 183, "end": 188}], "disease": [{"text": "translocation", "start": 240, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this investigation was to determine whether bcl-2 or bax gene expression differs between benign and malignant adrenal tumors, and whether hTERT gene expression correlates with the prognosis of patients with adrenal cancer.", "output": {"entities": {"gene": [{"text": "bax gene", "start": 68, "end": 76}], "disease": [{"text": "adrenal cancer", "start": 222, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis of the N-ras p21 and the p53 proteins was carried out on formalin-fixed sections of naevi, primary melanomas and metastases from patients with sporadic melanoma (SCMM) and with hereditary melanoma (HCMM)/dysplastic naevus syndrome (DNS).", "output": {"entities": {"gene": [{"text": "N-ras", "start": 36, "end": 41}], "disease": [{"text": "dysplastic naevus syndrome", "start": 233, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "To screen the exons of the genes encoding the beta3-subunit (GNB3) and gammac-subunit (GNGT2) of cone transducin for mutations in a large number of unrelated patients with various forms of inherited retinal disease including cone dystrophy, cone-rod dystrophy and macular dystrophy.", "output": {"entities": {"gene": [{"text": "beta3", "start": 46, "end": 51}], "disease": [{"text": "cone-rod dystrophy", "start": 241, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe a novel mutation of PAX8 causing autosomal dominant transmission of CH with thyroid hypoplasia.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 38, "end": 42}], "disease": [{"text": "thyroid hypoplasia", "start": 94, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX8", "start": 38, "end": 42}, "tail": {"text": "thyroid hypoplasia", "start": 94, "end": 112}}]}}, "schema": []}
{"input": "Immunohistochemical analysis with antibodies against estrogen receptor alpha, progesterone receptor, androgen receptor, Her2/neu, epidermal growth factor receptor, CK5/6, CK14, CK17, CK8, and CK18 was performed on representative sections of 21 breast carcinomas with bone metastasis and 94 cases without bone metastasis.", "output": {"entities": {"gene": [{"text": "CK17", "start": 177, "end": 181}], "disease": [{"text": "bone metastasis", "start": 267, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date.", "output": {"entities": {"gene": [{"text": "COX15", "start": 9, "end": 14}], "disease": [{"text": "Leigh syndrome", "start": 103, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COX15", "start": 9, "end": 14}, "tail": {"text": "Leigh syndrome", "start": 103, "end": 117}}]}}, "schema": []}
{"input": "Our results demonstrate that hypoxia facilitates alternative splicing of EAAT2 in the APP23 model.", "output": {"entities": {"gene": [{"text": "EAAT2", "start": 73, "end": 78}], "disease": [{"text": "hypoxia", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR-125b-2, let-7c and miR-99a.", "output": {"entities": {"gene": [{"text": "let-7c", "start": 95, "end": 101}], "disease": [{"text": "down syndrome", "start": 40, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "let-7c", "start": 95, "end": 101}, "tail": {"text": "down syndrome", "start": 40, "end": 53}}]}}, "schema": []}
{"input": "Taken together, overexpression of Sall1 does not affect kidney development, but does lead to a reduced body weight, suggesting that the optimal dosage of Sall1 is required for normal mouse development.", "output": {"entities": {"gene": [{"text": "Sall1", "start": 34, "end": 39}], "disease": [{"text": "body weight", "start": 103, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the relationship between the functional-592 A/C polymorphism in the gene encoding IL-10 and the prognosis of AITDs, we genotyped this polymorphism in 57 patients with intractable GD, 43 patients with GD in remission, 63 patients with severe HD, 44 patients with untreated mild HD, and 62 healthy volunteers by the direct sequencing method.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 94, "end": 99}], "disease": [{"text": "mild", "start": 284, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "MiRNA-206 and BDNF genes interacted in bipolar I disorder.", "output": {"entities": {"gene": [{"text": "MiRNA-206", "start": 0, "end": 9}], "disease": [{"text": "bipolar I disorder", "start": 39, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MiRNA-206", "start": 0, "end": 9}, "tail": {"text": "bipolar I disorder", "start": 39, "end": 57}}]}}, "schema": []}
{"input": "Two glioma cell lines, stably expressing mutational (U87/R132H) or wild type (U87/wt) IDH1, were established.", "output": {"entities": {"gene": [{"text": "U87", "start": 53, "end": 56}], "disease": [{"text": "glioma", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Using a mouse model of ERBB2-initiated mammary tumorigenesis, we first show that ablation of ERRα significantly delays ERBB2-induced tumor development and lowers the levels of amplicon transcripts.", "output": {"entities": {"gene": [{"text": "ERRα", "start": 93, "end": 97}], "disease": [{"text": "mammary tumorigenesis", "start": 39, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "A novel leptin receptor variant with a conservative amino acid substitution (I359 V) in body weight selected and unselected mouse lines.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 8, "end": 23}], "disease": [{"text": "body weight", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We examined the functional abnormality of C6 glioma cells transfected with mutant (C53S and P172R) Cx32 genes.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 99, "end": 103}], "disease": [{"text": "glioma", "start": 45, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Long-term complete haematological and molecular remission after allogeneic bone marrow transplantation in a patient with a stem cell myeloproliferative disorder associated with t (8; 13) (p12; q12).", "output": {"entities": {"gene": [{"text": "p12", "start": 188, "end": 191}], "disease": [{"text": "myeloproliferative disorder", "start": 133, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Of particular interest was the observation that the patient' s older sister, who carried the same ATP7B genotype and laboratory evidence for biochemical WD but was clinically asymptomatic, lacked the PRNP variant allele.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 98, "end": 103}], "disease": [{"text": "WD", "start": 153, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 98, "end": 103}, "tail": {"text": "WD", "start": 153, "end": 155}}]}}, "schema": []}
{"input": "Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.", "output": {"entities": {"gene": [{"text": "glycine decarboxylase", "start": 27, "end": 48}], "disease": [{"text": "nonketotic hyperglycinemia", "start": 76, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glycine decarboxylase", "start": 27, "end": 48}, "tail": {"text": "nonketotic hyperglycinemia", "start": 76, "end": 102}}]}}, "schema": []}
{"input": "In this study, we report that the TSPYL5 gene was less methylated (30%) in A549 lung adenocarcinoma cells, which are relatively resistant to gamma-radiation, than in H460 lung cancer cells, in which the TSPYL5 gene was hypermethylated (95%); thus, the expression level of TSPYL5 is much higher in A549 cells than in H460 cells.", "output": {"entities": {"gene": [{"text": "TSPYL5 gene", "start": 34, "end": 45}], "disease": [{"text": "lung adenocarcinoma", "start": 80, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "PhIP may thereby promote tumorigenesis by mutating growth-regulating genes that contain runs of guanines in their coding sequences, such as BAX, the insulin-like growth factor II receptor IGFIIR, and even the mismatch repair gene hMSH6.", "output": {"entities": {"gene": [{"text": "insulin-like growth factor II receptor", "start": 149, "end": 187}], "disease": [{"text": "tumorigenesis", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "While allelic imbalance at the ATM locus was rarely observed in diploid and aneuploid carcinomas, multiploid carcinomas exhibited a high frequency of ATM allelic imbalance.", "output": {"entities": {"gene": [{"text": "ATM", "start": 31, "end": 34}], "disease": [{"text": "aneuploid", "start": 76, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "A frame-shift mutation in the SLC34A2 gene in three patients with pulmonary alveolar microlithiasis in an inbred family.", "output": {"entities": {"gene": [{"text": "SLC34A2", "start": 30, "end": 37}], "disease": [{"text": "alveolar microlithiasis", "start": 76, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC34A2", "start": 30, "end": 37}, "tail": {"text": "alveolar microlithiasis", "start": 76, "end": 99}}]}}, "schema": []}
{"input": "The dominant antigen recognized during natural and experimental infections is an abundant lipoprotein, P35, which, upon extraction, segregates in the Triton X-114 detergent phase.", "output": {"entities": {"gene": [{"text": "P35", "start": 103, "end": 106}], "disease": [{"text": "infections", "start": 64, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "By contrast, compared to gene induction in response to HRV-16 alone, cells exposed to HRV + CSE showed marked suppression of expression of a number of HRV-induced genes associated with various functions, including antiviral defenses, inflammation, viral signaling and airway remodeling.", "output": {"entities": {"gene": [{"text": "CSE", "start": 92, "end": 95}], "disease": [{"text": "inflammation", "start": 234, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of human malignant autosomal recessive osteopetrosis (ARO), a rare inherited bone disease with increased bone density owing to a failure in bone resorption.", "output": {"entities": {"gene": [{"text": "TCIRG1 gene", "start": 17, "end": 28}], "disease": [{"text": "bone density", "start": 230, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "The gene for the insulin receptor has been assigned to chromosome 19 near the breakpoint of the translocation t (1; 19) which occurs in 25% of pre-B-cell leukemias.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 17, "end": 33}], "disease": [{"text": "translocation", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We found that the expression of the 13 genes were significantly (P < 0. 01) down-regulated in grade II, III, IV of astrocytoma compared to normal brain tissues, including ERCC1, ERCC2, ERCC3, ERCC4, MGMT, MLH1, MLH3, NTHL1, OGG1, RAD50, SMUG1, XRCC4 and XRCC5.", "output": {"entities": {"gene": [{"text": "ERCC1", "start": 171, "end": 176}], "disease": [{"text": "astrocytoma", "start": 115, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Netherton syndrome (NS, MIM 256500) is a potential live threatening autosomal-recessive skin disorder clinically characterized by the trias of congenital erythroderma, hair shaft anomalies and atopic diathesis.", "output": {"entities": {"gene": [{"text": "MIM", "start": 24, "end": 27}], "disease": [{"text": "erythroderma", "start": 154, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The measurements of infarcted ventricular wall thickness, infarction area, and left ventricular diameter indicated that heart remodeling was inhibited and heart function was improved in both the MSC (Ang1) and MSC (GFP) groups.", "output": {"entities": {"gene": [{"text": "MSC", "start": 195, "end": 198}], "disease": [{"text": "infarction", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "One ALPS patient lacked a Fas gene mutation.", "output": {"entities": {"gene": [{"text": "Fas", "start": 26, "end": 29}], "disease": [{"text": "ALPS", "start": 4, "end": 8}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Fas", "start": 26, "end": 29}, "tail": {"text": "ALPS", "start": 4, "end": 8}}]}}, "schema": []}
{"input": "Role of poly (ADP-ribose) glycohydrolase (PARG) in shock, ischemia and reperfusion.", "output": {"entities": {"gene": [{"text": "PARG", "start": 42, "end": 46}], "disease": [{"text": "ischemia", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In multivariate analysis of all patients and those with advanced disease, serum trypsin-2-API concentration was an adverse prognostic factor for cancer-specific and progression-free survival, and it was independent of stage and histological type of the tumor (P < or = 0. 01).", "output": {"entities": {"gene": [{"text": "API", "start": 90, "end": 93}], "disease": [{"text": "cancer", "start": 145, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We examined the diagnostic accuracy of the cumulative smoking dose for identifying the epidermal growth factor receptor (EGFR) exon 19 deletion and L858R mutation among Japanese patients with non-small-cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 121, "end": 125}], "disease": [{"text": "smoking", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we identified that miR-203 may suppress the tumorigenesis at least in part through negatively regulating its target gene ABL1.", "output": {"entities": {"gene": [{"text": "ABL1", "start": 131, "end": 135}], "disease": [{"text": "tumorigenesis", "start": 54, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABL1", "start": 131, "end": 135}, "tail": {"text": "tumorigenesis", "start": 54, "end": 67}}]}}, "schema": []}
{"input": "Rs35767on IGF1 (p = 0. 03) was also associated with mammographic density, although in opposite direction of what was expected from previous findings with IGF-I levels.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 154, "end": 159}], "disease": [{"text": "mammographic density", "start": 52, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Hyper-IgE syndrome is characterized by elevated serum IgE, dermatitis and recurrent infections, including CMC due to impaired generation of IL-17-producing Th17 cells.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 140, "end": 145}], "disease": [{"text": "recurrent infections", "start": 74, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder characterized by the clonal expansion of glycosylphosphatidylinositol (GPI)-deficient cells that leads to complement-mediated hemolysis.", "output": {"entities": {"gene": [{"text": "GPI", "start": 161, "end": 164}], "disease": [{"text": "hemolysis", "start": 216, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Utilizing tissue microarrays composed of normal esophageal squamous mucosa (n = 20), Barrett esophagus (n = 10), low-grade dysplasia (n = 14), high-grade dysplasia (n = 27), adenocarcinoma (n = 59), and node metastases (n = 27), we confirmed differential up-regulation of three proteins (Cdc2/Cdk1, Cdc5, and Igfbp3) in adenocarcinomas and Barrett lesions.", "output": {"entities": {"gene": [{"text": "Cdc5", "start": 299, "end": 303}], "disease": [{"text": "esophageal", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that ASC is highly expressed in a model of medulloblastoma, the most common malignant pediatric brain cancer; ASC is also expressed in human medulloblastomas.", "output": {"entities": {"gene": [{"text": "ASC", "start": 19, "end": 22}], "disease": [{"text": "medulloblastoma", "start": 57, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "However, one MCF10A clone, which was severely depleted of Plk1, although viable, showed sporadic G2/M arrest and apoptosis.", "output": {"entities": {"gene": [{"text": "Plk1", "start": 58, "end": 62}], "disease": [{"text": "sporadic", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Heterogeneous expression and function of IL-21R and susceptibility to IL-21-mediated apoptosis in follicular lymphoma cells.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 41, "end": 46}], "disease": [{"text": "follicular lymphoma", "start": 98, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The role of calcitonin gene-related peptide (CGRP) in the generation and maintenance of mechanical allodynia and hyperalgesia in rats after intradermal injection of capsaicin.", "output": {"entities": {"gene": [{"text": "calcitonin", "start": 12, "end": 22}], "disease": [{"text": "mechanical allodynia", "start": 88, "end": 108}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "calcitonin", "start": 12, "end": 22}, "tail": {"text": "mechanical allodynia", "start": 88, "end": 108}}]}}, "schema": []}
{"input": "Because our recent studies showed that inhibition of proteasomal function may be independently active as an apoptosis-inducing stimulus in these tumors, we investigated the sensitivity of a panel of glioma cell lines (U87, T98G, U373, A172, LN18, LN229, LNZ308, and LNZ428) to TRAIL alone and in combination with the proteasome inhibitor bortezomib.", "output": {"entities": {"gene": [{"text": "U87", "start": 218, "end": 221}], "disease": [{"text": "glioma", "start": 199, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms.", "output": {"entities": {"gene": [{"text": "ACTA2", "start": 29, "end": 34}], "disease": [{"text": "MMD", "start": 93, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACTA2", "start": 29, "end": 34}, "tail": {"text": "MMD", "start": 93, "end": 96}}]}}, "schema": []}
{"input": "SOX7 mRNA was relatively highly expressed in a gastric cancer cell line MKN45, esophageal cancer cell lines TE2, TE3, TE4, TE5, TE7, TE8, TE11, TE12, and TE13.", "output": {"entities": {"gene": [{"text": "SOX7", "start": 0, "end": 4}], "disease": [{"text": "esophageal cancer", "start": 79, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Mice with deleted CXCL10 gene are partially protected against experimental cerebral malaria (ECM) mortality indicating the importance of CXCL10 in the pathogenesis of CM.", "output": {"entities": {"gene": [{"text": "ECM", "start": 93, "end": 96}], "disease": [{"text": "cerebral malaria", "start": 75, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The prolactin receptor is expressed in macrophages within human carotid atherosclerotic plaques: a role for prolactin in atherogenesis?", "output": {"entities": {"gene": [{"text": "prolactin receptor", "start": 4, "end": 22}], "disease": [{"text": "atherogenesis", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Similar to the IGH-associated translocations in follicular and mantle cell lymphomas, the IGH-MALT1 junctions in MALT lymphoma showed all features of a recombination signal sequence-guided V (D) J-mediated translocation at the IGH locus.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 94, "end": 99}], "disease": [{"text": "translocation", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the role of polymorphism A2 (PLA2) in platelet glycoprotein IIb/IIIa (GP IIb/IIIa) in the development of recurrent spontaneous abortion (RSA)--miscarriages before 20th week of gestation (wg) of pregnancy.", "output": {"entities": {"gene": [{"text": "PLA2", "start": 67, "end": 71}], "disease": [{"text": "recurrent spontaneous abortion", "start": 143, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The major findings regarding the genetics of stress response and stress-related disorders are: (i) variations in genes involved in the sympathetic system or in the hypothalamic-pituitary-adrenocortical axis are associated with altered stress responses; (ii) genes related to the renin-angiotensin-aldosterone system or inflammation/immune response show associations with cardiovascular disorders; (iii) genes involved in monoaminergic neurotransmitter systems are associated with bipolar disorder and unipolar depression.", "output": {"entities": {"gene": [{"text": "renin", "start": 279, "end": 284}], "disease": [{"text": "unipolar depression", "start": 501, "end": 520}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "renin", "start": 279, "end": 284}, "tail": {"text": "unipolar depression", "start": 501, "end": 520}}]}}, "schema": []}
{"input": "As families AD/A and AD/B have very similar AD phenotype our observation of two mutations in functionally different domains suggest that onset age and severity of AD may not be very helpful predictors of the location of putative S182 mutations.", "output": {"entities": {"gene": [{"text": "S182", "start": 229, "end": 233}], "disease": [{"text": "AD", "start": 12, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "S182", "start": 229, "end": 233}, "tail": {"text": "AD", "start": 12, "end": 14}}]}}, "schema": []}
{"input": "Our results suggest that the biosynthetic pathways of the monoamine neurotransmitters that are mediated by TH and GCH might be associated with the CFS clinical findings, because persistence is one of the typical personality traits observed in CFS and patients with major depressive disorder exhibit a higher harm avoidance score.", "output": {"entities": {"gene": [{"text": "TH", "start": 107, "end": 109}], "disease": [{"text": "major depressive disorder", "start": 265, "end": 290}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TH", "start": 107, "end": 109}, "tail": {"text": "major depressive disorder", "start": 265, "end": 290}}]}}, "schema": []}
{"input": "SEMA3A is therefore a new gene whose loss-of-function is involved in KS.", "output": {"entities": {"gene": [{"text": "SEMA3A", "start": 0, "end": 6}], "disease": [{"text": "KS", "start": 69, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEMA3A", "start": 0, "end": 6}, "tail": {"text": "KS", "start": 69, "end": 71}}]}}, "schema": []}
{"input": "DMT-1 expression in C282Y homozygote subjects is consistent with the hypothesis of a \" paradoxical \" duodenal iron deficiency in hereditary hemochromatosis.", "output": {"entities": {"gene": [{"text": "DMT", "start": 0, "end": 3}], "disease": [{"text": "hereditary hemochromatosis", "start": 129, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "We used quantitative real-time PCR to determine the level of HOTAIR in ESCC cell lines and 100 ESCC samples from patients; 56 adjacent non-neoplastic tissues were used as controls.", "output": {"entities": {"gene": [{"text": "HOTAIR", "start": 61, "end": 67}], "disease": [{"text": "non-neoplastic", "start": 135, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In vitro, using serum starvation-refeeding experiment, our results suggested that SYF2 was upregulated in proliferating HCC cells, and was positive correlated with the expression of PCNA and Cyclin D1.", "output": {"entities": {"gene": [{"text": "SYF2", "start": 82, "end": 86}], "disease": [{"text": "starvation", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "GATA4 and GATA5 are potential tumor suppressors and biomarkers in colorectal cancer.", "output": {"entities": {"gene": [{"text": "GATA5", "start": 10, "end": 15}], "disease": [{"text": "colorectal cancer", "start": 66, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GATA5", "start": 10, "end": 15}, "tail": {"text": "colorectal cancer", "start": 66, "end": 83}}]}}, "schema": []}
{"input": "Keratinocyte-specific deletion within the mouse SRF locus during embryonic development caused edema and skin blistering, and all animals died in utero.", "output": {"entities": {"gene": [{"text": "SRF", "start": 48, "end": 51}], "disease": [{"text": "edema", "start": 94, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that the decrease in E-cadherin plays a role in the formation of steroid-induced cataract.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 41, "end": 51}], "disease": [{"text": "induced cataract", "start": 93, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Subsequent fluorescence in situ hybridization (FISH) studies disclosed that the immunoglobulin heavy-chain locus (IGH) and the MALT1 gene were rearranged by this translocation.", "output": {"entities": {"gene": [{"text": "MALT1 gene", "start": 127, "end": 137}], "disease": [{"text": "translocation", "start": 162, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of nuclear-cytoplasmic translocation increases the protein stability of p27 (kip1) and p27 (kip1) with a deletion of the Jab1-binding region (p27-jab-d) is not translocated and not degraded.", "output": {"entities": {"gene": [{"text": "kip1", "start": 92, "end": 96}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Ornithine decarboxylase (ODC), the first enzyme in polyamine synthesis, is a transcriptional target of c-myc and a modifier of APC-dependent tumorigenesis.", "output": {"entities": {"gene": [{"text": "ODC", "start": 25, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "PAMP is particularly suited to cancer genomes where the precise breakpoints of alterations such as deletions or translocations vary between patients.", "output": {"entities": {"gene": [{"text": "PAMP", "start": 0, "end": 4}], "disease": [{"text": "cancer", "start": 31, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The DIO2 T92A polymorphism modulates deiodinase activity and has been inconsistently associated with insulin resistance.", "output": {"entities": {"gene": [{"text": "DIO2", "start": 4, "end": 8}], "disease": [{"text": "insulin resistance", "start": 101, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer.", "output": {"entities": {"gene": [{"text": "ISL1", "start": 25, "end": 29}], "disease": [{"text": "Bladder Cancer", "start": 82, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ISL1", "start": 25, "end": 29}, "tail": {"text": "Bladder Cancer", "start": 82, "end": 96}}]}}, "schema": []}
{"input": "There was also a significant increase for these variables in non-proband TS relatives versus non-TS relatives, indicating the association of depression with Gts genes was not due to ascertainment bias or the inappropriate choice of controls.", "output": {"entities": {"gene": [{"text": "Gts", "start": 157, "end": 160}], "disease": [{"text": "depression", "start": 141, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gts", "start": 157, "end": 160}, "tail": {"text": "depression", "start": 141, "end": 151}}]}}, "schema": []}
{"input": "In five B-CLLs and one MCL with deletion of one ATM allele, a point mutation in the remaining allele was detected, which resulted in aberrant transcript splicing, alteration, or truncation of the protein.", "output": {"entities": {"gene": [{"text": "ATM", "start": 48, "end": 51}], "disease": [{"text": "B-CLL", "start": 8, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 48, "end": 51}, "tail": {"text": "B-CLL", "start": 8, "end": 13}}]}}, "schema": []}
{"input": "Patients with advanced fibrosis had higher CX3CL1 levels than those with mild or no fibrosis (p = 0. 010); and patients with severe activity grade had higher CX3CL1 levels than those with low activity grade (p = 0. 040).", "output": {"entities": {"gene": [{"text": "CX3CL1", "start": 43, "end": 49}], "disease": [{"text": "mild", "start": 73, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Histological examination revealed a demyelinating neuropathy and axon degeneration, and molecular analysis of signaling pathways showed reduced protein kinase B (PKB, AKT) activation in the nerves of Epigen-tg mice, indicating that the muscular phenotype is secondary to PNS demyelination and axon degeneration.", "output": {"entities": {"gene": [{"text": "Epigen", "start": 200, "end": 206}], "disease": [{"text": "demyelination", "start": 275, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that MRPL4 and BCAP, key components of the HIF-1α and PI3K/Akt signaling pathways respectively, are two novel candidate genes for atopy and allergic rhinitis.", "output": {"entities": {"gene": [{"text": "MRPL4", "start": 24, "end": 29}], "disease": [{"text": "atopy", "start": 149, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Glucocorticoid receptor-9beta polymorphism is associated with systolic blood pressure and heart growth during early childhood. The Generation R Study.", "output": {"entities": {"gene": [{"text": "Glucocorticoid receptor", "start": 0, "end": 23}], "disease": [{"text": "systolic blood pressure", "start": 62, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "However, the expression of NUDEL, FEZ1 and LIS1 was each significantly reduced in the brain tissue from patients with schizophrenia and expression of each showed association with high-risk DISC1 polymorphisms.", "output": {"entities": {"gene": [{"text": "LIS1", "start": 43, "end": 47}], "disease": [{"text": "schizophrenia", "start": 118, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LIS1", "start": 43, "end": 47}, "tail": {"text": "schizophrenia", "start": 118, "end": 131}}]}}, "schema": []}
{"input": "Lung histology and biochemical studies of the index patient (hSP-C (E66K)) revealed nonspecific interstitial pneumonia, increased alveolar total phospholipid lacking phosphatidylglycerol, and increased surfactant protein A. Localization of proSP-C from lung sections prepared from this patient using immunofluorescence and immunogold electron microscopy revealed abnormal proSP-C staining in endosomal-like vesicles of type II cells distinct from SP-B.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 447, "end": 451}], "disease": [{"text": "nonspecific interstitial pneumonia", "start": 84, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Aldosterone synthase (CYP11B2) C-344T polymorphism may influence the severity of systemic inflammation.", "output": {"entities": {"gene": [{"text": "CYP11B2", "start": 22, "end": 29}], "disease": [{"text": "inflammation", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "To explore a new strategy for effective and economical anti-virus therapy for HBV infection, we conducted a sequence administration of lamivudine and interferon alpha 1b to evaluate its effects on HBV replication and rebound as well as YMDD mutation induced by lamivudine.", "output": {"entities": {"gene": [{"text": "interferon alpha 1b", "start": 150, "end": 169}], "disease": [{"text": "HBV", "start": 78, "end": 81}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interferon alpha 1b", "start": 150, "end": 169}, "tail": {"text": "HBV", "start": 78, "end": 81}}]}}, "schema": []}
{"input": "The elder developed uncomplicated PXE in adolescence and harbored mutations in the ABCC6 gene.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 83, "end": 88}], "disease": [{"text": "PXE", "start": 34, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 83, "end": 88}, "tail": {"text": "PXE", "start": 34, "end": 37}}]}}, "schema": []}
{"input": "According to their urinary albumin-to-creatinine ratio (uACR), 107 patients with type 2 diabetes (eGFR > 60 ml/min) were divided into normal albuminuria group (DN0 group, 38 cases), microalbuminuria group (DN1 group, 38 cases), and macroalbuminuria group (DN2 group, 31 cases), compared with matched healthy normal control group (NC group, 30 cases).", "output": {"entities": {"gene": [{"text": "DN1", "start": 206, "end": 209}], "disease": [{"text": "albuminuria", "start": 141, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in the DRD2 gene and, among females, the MAOA gene interacted with retrospective reports of ADHD symptoms in contributing to risk for smoking.", "output": {"entities": {"gene": [{"text": "DRD2 gene", "start": 21, "end": 30}], "disease": [{"text": "smoking", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Association of polymorphism in the transcription factor LBP-1c/CP2/LSF gene with Alzheimer' s disease and major depression.", "output": {"entities": {"gene": [{"text": "LSF", "start": 67, "end": 70}], "disease": [{"text": "major depression", "start": 106, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LSF", "start": 67, "end": 70}, "tail": {"text": "major depression", "start": 106, "end": 122}}]}}, "schema": []}
{"input": "Therefore, we examined the association of IGF1 polymorphisms with circulating IGF-I levels and mammographic density.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 78, "end": 83}], "disease": [{"text": "mammographic density", "start": 95, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The role that hyperhomocysteinemia (HH) and the C677T mutation in 5, 10-methylenetetrahydrofolate reductase (MTHFR) play in splanchnic vein thrombosis (SVT) remains unclear due to this unusual thrombotic location.", "output": {"entities": {"gene": [{"text": "MTHFR", "start": 109, "end": 114}], "disease": [{"text": "splanchnic vein thrombosis", "start": 124, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "These results imply that a second' hit' in the APC gene, but not necessarily mutation in K-ras or p53, is an important and critical event for formation of a colorectal adenoma.", "output": {"entities": {"gene": [{"text": "APC gene", "start": 47, "end": 55}], "disease": [{"text": "hit", "start": 35, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.", "output": {"entities": {"gene": [{"text": "ABCC2", "start": 77, "end": 82}], "disease": [{"text": "Dubin-Johnson syndrome", "start": 9, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC2", "start": 77, "end": 82}, "tail": {"text": "Dubin-Johnson syndrome", "start": 9, "end": 31}}]}}, "schema": []}
{"input": "The aim of the current study was to determine the contribution of ERAP1 polymorphisms to ankylosing spondylitis (AS) susceptibility.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 66, "end": 71}], "disease": [{"text": "spondylitis", "start": 100, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The case of a patient presenting with a myeloproliferative disorder (MPD) characterized by a t (8; 22) (p12; q11) translocation was investigated.", "output": {"entities": {"gene": [{"text": "p12", "start": 104, "end": 107}], "disease": [{"text": "myeloproliferative disorder", "start": 40, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The tumor suppressor kinase LKB1 is mutated in a broad range of cancers however, the role of LKB1 mammary gland tumorigenesis is not fully understood.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 28, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "As a result of t (14; 18) translocation, hybrid bcl-2/immunoglobulin heavy chain transcripts are produced that consist of the 5' half of the bcl-2 mRNA fused to a \" decapitated \" immunoglobulin heavy chain mRNA.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 48, "end": 53}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Pemphigus foliaceus is an autoimmune blistering skin disease characterized by intraepidermal blisters and circulating autoantibodies directed against desmoglein 1, a 160 kDa transmembrane desmosomal molecule expressed in keratinocytes.", "output": {"entities": {"gene": [{"text": "desmoglein 1", "start": 150, "end": 162}], "disease": [{"text": "blisters", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We prospectively studied 55 patients (45 males, 10 females, age 48 +/-7 years) with NYHA Class II/III HF due either to dilated cardiomyopathy (CMP) (n = 33) or ischemic heart disease (IHD) (n = 22).", "output": {"entities": {"gene": [{"text": "CMP", "start": 143, "end": 146}], "disease": [{"text": "dilated cardiomyopathy", "start": 119, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "To evaluate whether morphological subsets of ependymomas are characterized by specific genetic lesions, we analyzed a series of 62 ependymal tumors, including myxopapillary ependymomas, subependymomas, ependymomas, and anaplastic ependymomas, for allelic losses on chromosome arms 10q and 22q and mutations in the PTEN and NF2 genes.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 314, "end": 318}], "disease": [{"text": "ependymal tumors", "start": 131, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, NOTCH1 gene mutations do not only play a role in familiar BAV, but can also be observed in approximately 4% of sporadic cases.", "output": {"entities": {"gene": [{"text": "NOTCH1 gene", "start": 15, "end": 26}], "disease": [{"text": "sporadic", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "p27 has been implicated in pituitary tumorigenesis in studies of knockout mice and in analyses of human pituitary tumor samples.", "output": {"entities": {"gene": [{"text": "p27", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The talpid (3) chicken mutant has a pleiotropic phenotype including polydactyly and craniofacial abnormalities.", "output": {"entities": {"gene": [{"text": "talpid (3", "start": 4, "end": 13}], "disease": [{"text": "craniofacial abnormalities", "start": 84, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "talpid (3", "start": 4, "end": 13}, "tail": {"text": "craniofacial abnormalities", "start": 84, "end": 110}}]}}, "schema": []}
{"input": "Up-regulation of hypoxia-inducible genes VEGFA, FLT1, VEGFC, HMOX1, and TIE2 was significant in donor airways relative to native airways (all P < 0. 05).", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 41, "end": 46}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Finally, we found that short hairpin RNA (shRNA)-based knockdown of several genes amplified in dedifferentiated liposarcoma, including CDK4 and YEATS4, decreased cell proliferation.", "output": {"entities": {"gene": [{"text": "YEATS4", "start": 144, "end": 150}], "disease": [{"text": "dedifferentiated liposarcoma", "start": 95, "end": 123}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "YEATS4", "start": 144, "end": 150}, "tail": {"text": "dedifferentiated liposarcoma", "start": 95, "end": 123}}]}}, "schema": []}
{"input": "The AML1 and ETO genes are disrupted by the nonrandom chromosomal translocation t (8; 21) in acute myelogenous leukemia (AML).", "output": {"entities": {"gene": [{"text": "AML1", "start": 4, "end": 8}], "disease": [{"text": "chromosomal translocation", "start": 54, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "VEGF expression appears to be highly susceptible to hypoxia or exogenous cytokines and growth factors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "This study was conducted to examine the CHST6 gene in Vietnamese with MCD.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 40, "end": 45}], "disease": [{"text": "MCD", "start": 70, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 40, "end": 45}, "tail": {"text": "MCD", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "Beside its transport activities, TTR is a cryptic protease and participates in the biology of the nervous system.", "output": {"entities": {"gene": [{"text": "TTR", "start": 33, "end": 36}], "disease": [{"text": "nervous system", "start": 98, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "For example, IFN gamma, but not IFN alpha, caused a significant reduction in epidermal growth factor receptor expression as well as an increase in the adhesion molecules intercellular adhesion molecule-1 and integrin alpha3.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 77, "end": 109}], "disease": [{"text": "adhesion", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Women in our cohort had an increased risk of death from extracranial haemorrhage (5 observed deaths, 0. 18 expected; SMR 27. 78 [8. 49-58. 18]); however, the number of deaths from this cause was much lower than that for ischaemic heart disease.", "output": {"entities": {"gene": [{"text": "SMR", "start": 117, "end": 120}], "disease": [{"text": "ischaemic heart disease", "start": 220, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "In addition, the VEGF protein, which was produced from the Epo-SV-VEGF-transfected and hypoxia-incubated cells, was able to enhance the proliferation of the endothelial cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "As expected, the therapeutical effect of PSD was transient and most patients experienced an exacerbation of depressive symptoms on day 2.", "output": {"entities": {"gene": [{"text": "PSD", "start": 41, "end": 44}], "disease": [{"text": "depressive symptoms", "start": 108, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The monocyte chemoattractant protein-1 (MCP-1)-A2518G gene polymorphism has been found to be involved in the susceptibility to inflammatory bowel disease (IBD); however, the results of existing studies are controversial.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 40, "end": 45}], "disease": [{"text": "bowel disease", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.", "output": {"entities": {"gene": [{"text": "IGSF3", "start": 21, "end": 26}], "disease": [{"text": "nasolacrimal duct obstruction", "start": 64, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IGSF3", "start": 21, "end": 26}, "tail": {"text": "nasolacrimal duct obstruction", "start": 64, "end": 93}}]}}, "schema": []}
{"input": "Specifically, single nucleotide polymorphisms (SNPs) in two genes critical for T-cell function are associated with susceptibility to MDD: PSMB4 (proteasome beta4 subunit), important for antigen processing, and TBX21 (T bet), critical for differentiation.", "output": {"entities": {"gene": [{"text": "TBX21", "start": 210, "end": 215}], "disease": [{"text": "MDD", "start": 133, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TBX21", "start": 210, "end": 215}, "tail": {"text": "MDD", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "The molecular characterization of the LPL gene in these three patients with partial LPL deficiency revealed four novel unpublished mutations.", "output": {"entities": {"gene": [{"text": "LPL", "start": 38, "end": 41}], "disease": [{"text": "LPL deficiency", "start": 84, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 38, "end": 41}, "tail": {"text": "LPL deficiency", "start": 84, "end": 98}}]}}, "schema": []}
{"input": "These results demonstrate a profibrotic role of IL-9 in an airway remodeling model, possibly involving eosinophils and CTGF.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 119, "end": 123}], "disease": [{"text": "airway remodeling", "start": 59, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "To examine if the gene encoding C-reactive protein (CRP), a biomarker of inflammation, confers risk for neovascular age-related macular degeneration (AMD) in the presence of other modifiers of inflammation, including body mass index (BMI), diabetes, smoking, and complement factor H (CFH) Y402 genotype.", "output": {"entities": {"gene": [{"text": "CFH", "start": 284, "end": 287}], "disease": [{"text": "inflammation", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Screening for structural balanced chromosomal aberrations in 58 patients with ovarian carcinoma found a patient with inv (9) (p11; q13) who had repeated spontaneous abortions.", "output": {"entities": {"gene": [{"text": "p11", "start": 126, "end": 129}], "disease": [{"text": "chromosomal aberrations", "start": 34, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Loss of Glis2 function leads to renal atrophy and fibrosis that involves epithelial-mesenchymal transition (EMT) of renal tubule epithelial cells.", "output": {"entities": {"gene": [{"text": "EMT", "start": 108, "end": 111}], "disease": [{"text": "renal atrophy", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We compare time-lapse maps of AD, MCI, and other dementias, correlate these changes with cognition, and relate them to similar time-lapse maps of childhood development, schizophrenia, and HIV-associated brain degeneration.", "output": {"entities": {"gene": [{"text": "MCI", "start": 34, "end": 37}], "disease": [{"text": "schizophrenia", "start": 169, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Comparison of platelet-activating factor receptor mRNA levels in peripheral blood eosinophils from normal subjects and atopic asthmatic patients.", "output": {"entities": {"gene": [{"text": "platelet-activating factor receptor", "start": 14, "end": 49}], "disease": [{"text": "atopic", "start": 119, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Truncating and missense mutations of the FLNA gene have been identified in almost 100% of families and 26% of sporadic patients with PH.", "output": {"entities": {"gene": [{"text": "FLNA gene", "start": 41, "end": 50}], "disease": [{"text": "sporadic", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Impaired regulatory function in circulating CD4 (+) CD25 (high) CD127 (low/-) T cells in patients with myasthenia gravis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 44, "end": 47}], "disease": [{"text": "myasthenia gravis", "start": 103, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Using data from the Dallas Heart Study, we assessed the association between perceived r/e discrimination and traditional CVD risk factors, C-reactive protein (CRP), aortic plaque area and wall thickness, and coronary calcium (CAC) score among black, white, and Hispanic participants.", "output": {"entities": {"gene": [{"text": "CAC", "start": 226, "end": 229}], "disease": [{"text": "plaque", "start": 172, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We found that induction of PDGFβ and bFGF mRNAs by hypoxia was greater in CD349-negative cells than in CD349-positive cells while the expression of VEGF was not significantly different in CD349-negative and CD349-positive cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 148, "end": 152}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the IFNA10 and IFNA4 mutants resulted in an impairment of the suppression of HCV RNA replication in HuH7 cells, and the administration of the recombinant IFN subtypes restored DSS-induced colonic inflammation through the upregulation of CD4 (+) Treg cells.", "output": {"entities": {"gene": [{"text": "IFNA10", "start": 17, "end": 23}], "disease": [{"text": "inflammation", "start": 209, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Mice injected with adenovirus expressed PON1 at 600-3480 U ml (-1) on day 5 post-treatment, which is 8-50-fold above endogenous.", "output": {"entities": {"gene": [{"text": "PON1", "start": 40, "end": 44}], "disease": [{"text": "adenovirus", "start": 19, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the mode of cell death (apoptosis vs. necrosis) as well as the correlation between NBDHEX susceptibility and GST activity or Bcl-2 expression was investigated.", "output": {"entities": {"gene": [{"text": "GST", "start": 119, "end": 122}], "disease": [{"text": "necrosis", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels.", "output": {"entities": {"gene": [{"text": "parathyroid hormone", "start": 88, "end": 107}], "disease": [{"text": "cherubism", "start": 51, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Simultaneous downregulation of Bcl-x (L) was an additional requirement for cisplatin hypersensitivity, as p53-dependent cell death could be antagonized by exogenous Bcl-x (L).", "output": {"entities": {"gene": [{"text": "Bcl-x", "start": 31, "end": 36}], "disease": [{"text": "hypersensitivity", "start": 85, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Systemic miR-7 administration in a targeted, clinically safe delivery vesicle (EGFREDVTM nanocells) reduces ACC xenograft growth originating from both ACC cell lines and primary ACC cells.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 9, "end": 14}], "disease": [{"text": "vesicle", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We found positive correlations between the ZAC1 DMR methylation index (MI) and estimated fetal weight (EFW) at 32 weeks of gestation, weight at birth and weight at one year of age (respectively, r = 0. 15, 0. 09, 0. 14; P values = 0. 01, 0. 15, 0. 03).", "output": {"entities": {"gene": [{"text": "ZAC1", "start": 43, "end": 47}], "disease": [{"text": "weight", "start": 95, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The AT2 receptor function in lung stromal fibroblasts may be a potential modulator of tumor susceptibility in chemical carcinogen-induced lung tumorigenesis.", "output": {"entities": {"gene": [{"text": "AT2", "start": 4, "end": 7}], "disease": [{"text": "tumorigenesis", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia (1% O (2)) or treatment with hypoxia-mimicking CoCl (2) enhanced RSUME and HIF-1α expression, induced translocation of HIF-1α to the nuclei and stimulated VEGF-A production both in pituitary tumour cell lines and primary human pituitary adenoma cell cultures.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 83, "end": 89}], "disease": [{"text": "pituitary tumour", "start": 189, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Autoimmune fatigue syndrome (AIFS) is characterized by chronic nonspecific complaints, consistently positive antinuclear antibodies (ANA), and lack of alternate medical explanations.", "output": {"entities": {"gene": [{"text": "ANA", "start": 133, "end": 136}], "disease": [{"text": "fatigue", "start": 11, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "There were cases of seizure reduction regardless of N-CLB concentration decrease on STP, which suggests a significant anti-convulsant action of STP.", "output": {"entities": {"gene": [{"text": "STP", "start": 84, "end": 87}], "disease": [{"text": "seizure", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The hypermethylation of PPP2R2B or WIF-1 was associated with longer survival in laryngeal carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "PPP2R2B", "start": 24, "end": 31}], "disease": [{"text": "laryngeal carcinoma", "start": 80, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In further support of this view, MCH-deficient mice developed attenuated toxin A-mediated intestinal inflammation and secretion, as did wild-type mice treated with an antibody against MCH or MCHR1.", "output": {"entities": {"gene": [{"text": "MCH", "start": 33, "end": 36}], "disease": [{"text": "inflammation", "start": 101, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene encoding the endothelin receptor type B (EDNRB) produce congenital aganglionic megacolon and pigment abnormalities in mice and humans.", "output": {"entities": {"gene": [{"text": "EDNRB", "start": 63, "end": 68}], "disease": [{"text": "abnormalities", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "For the present study, myometrial (UtSMC) and uterine leiomyoma (UtLM) cell lines and their human telomerase reverse transcriptase (hTERT) immortalized counterparts were evaluated by GTL-banding and spectral karyotyping.", "output": {"entities": {"gene": [{"text": "telomerase reverse transcriptase", "start": 98, "end": 130}], "disease": [{"text": "uterine leiomyoma", "start": 46, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "At progression, besides trisomy 12 three concomitant balanced translocations t (2; 14) (p13; q32), t (14; 19) (q32; q13), and t (18; 22) (q21; q11) were found.", "output": {"entities": {"gene": [{"text": "p13", "start": 88, "end": 91}], "disease": [{"text": "trisomy 12", "start": 24, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Modelling the impact of different genotypes and their statistical interactions on SDS-BMI change adjusting for age, gender and baseline BMI or SDS-BMI, respectively, revealed that the combination of the CC genotype in INSIG2 and the AA genotype in FTO was significantly associated with the lowest degree of overweight reduction, but even with an increase in overweight (SDS-BMI change + 0. 51; 95% CI 0. 22 to 0. 79).", "output": {"entities": {"gene": [{"text": "FTO", "start": 248, "end": 251}], "disease": [{"text": "overweight", "start": 307, "end": 317}]}, "relations": {}}, "schema": []}
{"input": "The loss of function mutations are associated with familial benign hypocalciuric hypercalcaemia (FHH), an autosomal dominant disease characterised by lifelong mild hypercalcaemia, low urinary calcium excretion, and inappropriate high parathyroid hormone levels, sometimes difficult to distinguish from mild asymptomatic primary hyperparathyroidism.", "output": {"entities": {"gene": [{"text": "parathyroid hormone", "start": 234, "end": 253}], "disease": [{"text": "mild", "start": 159, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, C-ALCL and PTL-NOS showed aberrant expression of distinct genes implicated in apoptosis and proliferation, such as IRF4/MUM1 and PRKCQ, which may account for differences in clinical aggressiveness.", "output": {"entities": {"gene": [{"text": "PTL", "start": 24, "end": 27}], "disease": [{"text": "aggressiveness", "start": 195, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 0, "end": 5}], "disease": [{"text": "hyperinsulinemia", "start": 122, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The RAG complex also appears capable of recognizing regions for their altered DNA structure rather than their primary sequence, and this may account for the action by RAGs at some chromosomal translocation sites, such as at the bcl-2 major breakpoint region in the follicular lymphomas that arise in B lymphocytes.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 228, "end": 233}], "disease": [{"text": "chromosomal translocation", "start": 180, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "DEC1 expression was correlated with necrosis and with expression of HIF-1alpha, CA9, and VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 89, "end": 93}], "disease": [{"text": "necrosis", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.", "output": {"entities": {"gene": [{"text": "SLC20A2", "start": 13, "end": 20}], "disease": [{"text": "familial idiopathic basal ganglia calcification", "start": 42, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC20A2", "start": 13, "end": 20}, "tail": {"text": "familial idiopathic basal ganglia calcification", "start": 42, "end": 89}}]}}, "schema": []}
{"input": "Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 56, "end": 74}], "disease": [{"text": "familial hyperchylomicronemia", "start": 102, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 56, "end": 74}, "tail": {"text": "familial hyperchylomicronemia", "start": 102, "end": 131}}]}}, "schema": []}
{"input": "The adjusted diastolic blood pressure response to Captopril was 3. 3 mm Hg lower in ACE2 T allele carriers than in CC genotype carriers (P = 0. 019) in women.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 84, "end": 88}], "disease": [{"text": "diastolic blood pressure", "start": 13, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We expanded human T-lymphotropic virus type 1 Tax-specific CTL in vitro from PBMC of three individual adult T cell leukemia/lymphoma (ATL) patients and assessed their therapeutic potential in an in vivo model using NOG mice bearing primary ATL cells from the respective three patients (ATL/NOG).", "output": {"entities": {"gene": [{"text": "NOG", "start": 215, "end": 218}], "disease": [{"text": "lymphoma", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "ERP27, ITPR1, ERO1LB, TIMP1, IL12B) emerged as differently expressed genes between asymptomatic and symptomatic patients.", "output": {"entities": {"gene": [{"text": "ITPR1", "start": 7, "end": 12}], "disease": [{"text": "asymptomatic", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Increased Siglec-1 expression in monocytes of patients with primary biliary cirrhosis.", "output": {"entities": {"gene": [{"text": "Siglec-1", "start": 10, "end": 18}], "disease": [{"text": "primary biliary cirrhosis", "start": 60, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "SERCA3 expression was studied in gastric carcinoma tissue and cell lines by Western blot, reverse transcriptase-polymerase chain reaction, or immunofluorescence.", "output": {"entities": {"gene": [{"text": "SERCA3", "start": 0, "end": 6}], "disease": [{"text": "gastric carcinoma", "start": 33, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "VEGFC and VEGFR1 mRNA overexpression is of prognostic value, dependent on HER2 status, in patients with high-risk early breast cancer undergoing adjuvant treatment.", "output": {"entities": {"gene": [{"text": "VEGFC", "start": 0, "end": 5}], "disease": [{"text": "breast cancer", "start": 120, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VEGFC", "start": 0, "end": 5}, "tail": {"text": "breast cancer", "start": 120, "end": 133}}]}}, "schema": []}
{"input": "Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.", "output": {"entities": {"gene": [{"text": "LRP2", "start": 52, "end": 56}], "disease": [{"text": "mild intellectual disability", "start": 119, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The oculocerebrorenal syndrome of Lowe (OCRL) (MIM: 309000) is an X-linked multisystemic disorder affecting the eyes, nervous system and kidneys due to mutations in OCRL1 gene.", "output": {"entities": {"gene": [{"text": "MIM", "start": 47, "end": 50}], "disease": [{"text": "nervous system", "start": 118, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "This population is thought to represent the progenitor stage at which the bcl-2/IgH translocation occurs.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 74, "end": 79}], "disease": [{"text": "translocation", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Finally, PPARγ activation with rosiglitazone regimens that attenuated hypoxia-induced PH in vivo and human PAEC proliferation in vitro restored miR-98 levels.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 9, "end": 14}], "disease": [{"text": "hypoxia", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Our analysis identified several novel dysregulated genes and miRNAs in ASD compared with controls, including HEY1, SOX9, miR-486 and miR-181b.", "output": {"entities": {"gene": [{"text": "miR-486", "start": 121, "end": 128}], "disease": [{"text": "ASD", "start": 71, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-486", "start": 121, "end": 128}, "tail": {"text": "ASD", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "Haploinsufficiency for BRCA1 leads to cell-type-specific genomic instability and premature senescence.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 23, "end": 28}], "disease": [{"text": "genomic instability", "start": 57, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we used ECM-degrading and Wnt signal-disrupting oncolytic adenovirus (oAd/DCN/LRP) to achieve a desirable therapeutic outcome against pancreatic cancer.", "output": {"entities": {"gene": [{"text": "DCN", "start": 96, "end": 99}], "disease": [{"text": "adenovirus", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Association between increased maspin expression and up-regulation of miR-21 in endometrial cancer suggests distinct and tissue-specific relationships of the 2 molecules in this type of malignancy and requires further studies that would reveal its clinical relevance.", "output": {"entities": {"gene": [{"text": "maspin", "start": 30, "end": 36}], "disease": [{"text": "endometrial cancer", "start": 79, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Breeding of heterozygous mutants yielded a normal Mendelian ratio among embryos on gestation day 9. 5; however, null mutant (Spca1 (-/-)) embryos exhibited growth retardation and did not survive beyond gestation day 10. 5.", "output": {"entities": {"gene": [{"text": "Spca1", "start": 125, "end": 130}], "disease": [{"text": "growth retardation", "start": 156, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "There were significant correlations between ALDH2 genotypes and alcohol drinking/smoking/history of esophageal cancer.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 44, "end": 49}], "disease": [{"text": "smoking", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, our results revealed elevated waist/hip ratio, BMI, blood pressure, fasting blood glucose level, HOMA-IR, triglycerides, total cholesterol, resistin level, and decreased HDL cholesterol level in homozygote mutant genotypes carriers of both RETN polymorphisms among obese patients.", "output": {"entities": {"gene": [{"text": "RETN", "start": 253, "end": 257}], "disease": [{"text": "blood pressure", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We identified homozygous mutations in 7 different genes in 11 unrelated patients and show that NKX2-2 and MNX1 are etiological genes for neonatal diabetes, thus confirming their key role in development of the human pancreas.", "output": {"entities": {"gene": [{"text": "NKX2-2", "start": 95, "end": 101}], "disease": [{"text": "neonatal diabetes", "start": 137, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NKX2-2", "start": 95, "end": 101}, "tail": {"text": "neonatal diabetes", "start": 137, "end": 154}}]}}, "schema": []}
{"input": "Decreased levels of BDNF, as well as other neurotrophic factors, could contribute to the atrophy of certain limbic structures, including the hippocampus and prefrontal cortex that has been observed in depressed subjects.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 20, "end": 24}], "disease": [{"text": "atrophy", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Leiomyosarcoma, sarcomatoid carcinoma, embryonal rhabdomyosarcoma and reactive myofibroblastic proliferations were negative for ALK-1 protein and ALK rearrangements.", "output": {"entities": {"gene": [{"text": "ALK", "start": 128, "end": 131}], "disease": [{"text": "carcinoma, embryonal", "start": 28, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The levels of PCNA and Bcl-2 were sequentially increased from hyperplasia to dysplasia and SCC.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 14, "end": 18}], "disease": [{"text": "hyperplasia", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Activated CDC2 phosphorylates Bad at serine-128 and facilitates its translocation to the mitochondria, where Bad triggers apoptosis.", "output": {"entities": {"gene": [{"text": "CDC2", "start": 10, "end": 14}], "disease": [{"text": "translocation", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Concurrently, cerebral abnormalities were greatly ameliorated as shown by reduced NSE and S-100 content of brain, decreased cytokine mRNA expressions, suppressed microglial activation, and enhanced infiltration of CD11b + and CD45 + cells into the brain.", "output": {"entities": {"gene": [{"text": "CD45", "start": 226, "end": 230}], "disease": [{"text": "abnormalities", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c. 636 + 471G > T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression.", "output": {"entities": {"gene": [{"text": "HADH", "start": 119, "end": 123}], "disease": [{"text": "mild", "start": 220, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Intraperitoneal administration of PYY (3-36) (0. 01-1mg/kg) and N-acetyl-[Leu28, Leu31]-NPY (24-36) (10mg/kg) significantly inhibited diarrhea (increase in wet fecal weight and diarrhea score) induced by dimethyl-prostaglandin E2, 5-hydroxytryptamine, and castor oil.", "output": {"entities": {"gene": [{"text": "NPY", "start": 88, "end": 91}], "disease": [{"text": "weight", "start": 166, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Impaired myocardial protein synthesis induced by acute alcohol intoxication is associated with changes in eIF4F.", "output": {"entities": {"gene": [{"text": "eIF4F", "start": 106, "end": 111}], "disease": [{"text": "acute alcohol intoxication", "start": 49, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "eIF4F", "start": 106, "end": 111}, "tail": {"text": "acute alcohol intoxication", "start": 49, "end": 75}}]}}, "schema": []}
{"input": "Reconstitution of MnSOD expression in several human cancer cell lines leads to reversion of malignancy and induces a resistant phenotype to the cytotoxic effects of TNF and hyperthermia.", "output": {"entities": {"gene": [{"text": "MnSOD", "start": 18, "end": 23}], "disease": [{"text": "hyperthermia", "start": 173, "end": 185}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MnSOD", "start": 18, "end": 23}, "tail": {"text": "hyperthermia", "start": 173, "end": 185}}]}}, "schema": []}
{"input": "DBY is frequently deleted in infertile patients and its absence produces severe spermatogenic damage leading to a significant reduction of germ cells or even to their complete absence.", "output": {"entities": {"gene": [{"text": "DBY", "start": 0, "end": 3}], "disease": [{"text": "infertile", "start": 29, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the N291S mutation conferred a significantly greater risk for developing cardiovascular disease in FH heterozygotes compared with FH heterozygotes without this LPL mutation (odds ratio, 3. 875; P =. 006).", "output": {"entities": {"gene": [{"text": "LPL", "start": 170, "end": 173}], "disease": [{"text": "cardiovascular disease", "start": 83, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of Ets-1, p300 and CREB were increased in the peripheral blood of recurrent wheeze patients compared with normal control subjects and showed a strong linear correlation with the expression of ORMDL3.", "output": {"entities": {"gene": [{"text": "CREB", "start": 41, "end": 45}], "disease": [{"text": "wheeze", "start": 98, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We recorded the clinical and morphologic features of 52 MSH6-associated colorectal cancers in comparison with MLH1/MSH2-mutant tumors and sporadic mismatch repair-deficient cancers.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 56, "end": 60}], "disease": [{"text": "sporadic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "A significant degree of variable expressivity has been reported in heterozygous individuals with BMP4 or OTX2 mutation.", "output": {"entities": {"gene": [{"text": "OTX2", "start": 105, "end": 109}], "disease": [{"text": "variable expressivity", "start": 24, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Since very little is known about neuroendocrine changes that occur in portal-systemic hepatic encephalopathy, we studied plasma prolactin (PRL) levels and the involvement of hyperammonemia, nitric oxide (NO) and dopaminergic and adrenergic systems in the control of this hormone secretion in a male rat model of prehepatic portal hypertension (PH).", "output": {"entities": {"gene": [{"text": "PRL", "start": 139, "end": 142}], "disease": [{"text": "hepatic encephalopathy", "start": 86, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We also assessed 4 recently published gene associations for sudden cardiac arrest, validating NOS1AP (p = 4. 50 × 10 (-2), OR = 1. 15, 95% CI: 1. 003, 1. 326), CSMD2 (p = 6. 6 × 10 (-3), OR = 2. 27, 95% CI: 1. 681, 2. 859), and AGTR1 (p = 3. 00 × 10 (-3), OR = 1. 13, 95% CI: 1. 042, 1. 215).", "output": {"entities": {"gene": [{"text": "CSMD2", "start": 160, "end": 165}], "disease": [{"text": "sudden cardiac arrest", "start": 60, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The R451C allele described in NLGN3, was analyzed with both human NLGN1 (R453C) and worm NLG-1 (R437C) proteins, and both were not functional in rescuing the osmotic avoidance behavior and the gentle touch response phenotype.", "output": {"entities": {"gene": [{"text": "NLGN1", "start": 66, "end": 71}], "disease": [{"text": "worm", "start": 84, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Biochemical test showed obviously increased alkaline phosphatase (ALP) and parathyroid hormone (PTH), mild hypocalcemia and hypophosphatemia.", "output": {"entities": {"gene": [{"text": "PTH", "start": 96, "end": 99}], "disease": [{"text": "mild", "start": 102, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we sought to test the hypothesis that pharmacological induction of insulin resistance in a mouse transgenic (TG) for human IAPP would induce islet amyloid and beta-cell dysfunction.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 145, "end": 149}], "disease": [{"text": "insulin resistance", "start": 89, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We report here the identification of a mutation in the transmembrane region of FGFR3, common to three unrelated patients with classical Crouzon syndrome and acanthosis nigricans, a dermatological condition associated with thickening and abnormal pigmentation of the skin.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 79, "end": 84}], "disease": [{"text": "abnormal pigmentation", "start": 237, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Human cyclic haematopoiesis (cyclic neutropenia, MIM 162800) is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity.", "output": {"entities": {"gene": [{"text": "MIM", "start": 49, "end": 52}], "disease": [{"text": "cyclic neutropenia", "start": 29, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, HRG treatment resulted in G3BP translocation to the nucleus and colocalization with acetylated histone H3, a hallmark of active transcription sites.", "output": {"entities": {"gene": [{"text": "G3BP", "start": 39, "end": 43}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46, XX, t (13; 17) (q34; p11. 2).", "output": {"entities": {"gene": [{"text": "p11", "start": 120, "end": 123}], "disease": [{"text": "hemivertebra", "start": 22, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Further FISH indicated a breakpoint within fibroblast growth factor receptor 1 (FGFR1), the receptor tyrosine kinase that is known to be disrupted in a distinctive myeloproliferative disorder, most commonly by fusion to ZNF198.", "output": {"entities": {"gene": [{"text": "FISH", "start": 8, "end": 12}], "disease": [{"text": "myeloproliferative disorder", "start": 164, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "The objective of the present study was to clarify the effect of the methylation of the apoptosis-related genes, Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3) and death-associated protein kinase (DAPK), on the response to chemotherapy in metastatic or recurrent gastric cancers.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 163, "end": 168}], "disease": [{"text": "adenovirus", "start": 118, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Only one patient had a t (14; 18) translocation, whereas almost 40% of these 28 patients showed bcl-2 gene rearrangements by a PCR method.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 96, "end": 106}], "disease": [{"text": "translocation", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In one of the two families (Family 3) with the autosomal recessive type of hypophosphatasia an affected subject had low NAP as well as low TALP, PLP and PEA.", "output": {"entities": {"gene": [{"text": "NAP", "start": 120, "end": 123}], "disease": [{"text": "hypophosphatasia", "start": 75, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "CAL produced myocardial hypertrophy, which was most pronounced 28 days postinfarction as demonstrated by increases in both left ventricular weight-to-body weight ratio and atrial natriuretic peptide gene expression, both of which were abrogated by leptin receptor antagonism.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 248, "end": 263}], "disease": [{"text": "body weight", "start": 150, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Finally, hypoxic induction of endogenous Tf mRNA was abrogated in Hepa1C4 cells, confirming that HIF-1 confers oxygen regulation of Tf gene expression by binding to the two HBSs present in the Tf enhancer.", "output": {"entities": {"gene": [{"text": "Tf gene", "start": 132, "end": 139}], "disease": [{"text": "hypoxic", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Bacterial TLR4 activation in epithelial cells leads to chemokine secretion and neutrophil recruitment and TLR4 mutant mice develop an asymptomatic carrier state.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 10, "end": 14}], "disease": [{"text": "asymptomatic", "start": 134, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Bilateral sensorineural hearing loss (HL), classically described as mild to severe with a typically down-sloping audiometric configuration, is the earliest symptom occurring in Usher syndrome type II (USH2).", "output": {"entities": {"gene": [{"text": "USH2", "start": 201, "end": 205}], "disease": [{"text": "mild", "start": 68, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We have constructed a recombinant defective adenovirus that expresses functional murine IFN-gamma-inducible protein-10 (IP-10) chemokine (AdCMVIP-10).", "output": {"entities": {"gene": [{"text": "IP-10", "start": 120, "end": 125}], "disease": [{"text": "adenovirus", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In both these tumors primary translocation events dysregulating the BCL2 or c-MYC were identified to have occurred in a pre-B-cell.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 68, "end": 72}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In these cases, mechanisms other than classic translocation may be deregulation Bcl-2.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 80, "end": 85}], "disease": [{"text": "translocation", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, RAD51C-negative cells exhibited enhanced recruitment of non-homologous end joining (NHEJ) proteins onto chromatin and this accumulation correlated with increased activity of error-prone NHEJ as well as genome instability leading to cell death.", "output": {"entities": {"gene": [{"text": "RAD51C", "start": 15, "end": 21}], "disease": [{"text": "genome instability", "start": 217, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "R271W, a Pit-1 mutant identified in one allele in patients with severe combined pituitary hormone deficiency, and Pit-1Delta1-123, a deletion mutant in which only the DNA binding domain of Pit-1 is conserved, were generated, and their ability to abolish the effects of the endogenous native Pit-1 in the differentiated proliferating somatolactotrope GH4C1 cell line was investigated.", "output": {"entities": {"gene": [{"text": "Pit-1", "start": 9, "end": 14}], "disease": [{"text": "pituitary hormone deficiency", "start": 80, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results show that PLZF-ERalpha is a potent repressor of estrogen-regulated gene expression and could be useful in distinguishing estrogen-regulated genes required for the growth of breast cancer cells.", "output": {"entities": {"gene": [{"text": "PLZF", "start": 40, "end": 44}], "disease": [{"text": "breast cancer", "start": 203, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, METRNL administration rescued glucose intolerance and reduced HFD-induced body weight gain in mice; however, METRNL did not affect calorie intake.", "output": {"entities": {"gene": [{"text": "METRNL", "start": 13, "end": 19}], "disease": [{"text": "glucose intolerance", "start": 43, "end": 62}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "METRNL", "start": 13, "end": 19}, "tail": {"text": "glucose intolerance", "start": 43, "end": 62}}]}}, "schema": []}
{"input": "We found ATG2B, ATG5, ATG9B and ATG12 mutations in 10, 2, 13 and 0 cancers, respectively.", "output": {"entities": {"gene": [{"text": "ATG9B", "start": 22, "end": 27}], "disease": [{"text": "cancers", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In mice overexpressing human UCP-2, brain damage was diminished after experimental stroke and traumatic brain injury, and neurological recovery was enhanced.", "output": {"entities": {"gene": [{"text": "UCP-2", "start": 29, "end": 34}], "disease": [{"text": "stroke", "start": 83, "end": 89}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "UCP-2", "start": 29, "end": 34}, "tail": {"text": "stroke", "start": 83, "end": 89}}]}}, "schema": []}
{"input": "Deregulation of apoptosis is one of the important features of AML and to understand the molecular mechanism underlying apoptosis and its contribution to tumor progression, this study aimed to evaluate anti-apoptotic Bcl2 protein expression in AML and correlate with FLT3 parameters for their role in prognosis of disease. Bcl2 and FLT3 protein expression was quantified by flow cytometry on leukemic blasts in total 174 de novo AML, myelodysplastic syndrome (MDS) and aplastic anemia patients.", "output": {"entities": {"gene": [{"text": "FLT3", "start": 266, "end": 270}], "disease": [{"text": "aplastic anemia", "start": 468, "end": 483}]}, "relations": {}}, "schema": []}
{"input": "Thus, by linking EMT, loss of polarity, and metastasis, ZEB1 is a crucial promoter of malignant tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 17, "end": 20}], "disease": [{"text": "tumor progression", "start": 96, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "XLI has been diagnosed by assaying STS activity in placenta or lymphocytes of patients after birth.", "output": {"entities": {"gene": [{"text": "STS", "start": 35, "end": 38}], "disease": [{"text": "XLI", "start": 0, "end": 3}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STS", "start": 35, "end": 38}, "tail": {"text": "XLI", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "We examined the expression of 19 angiogenic factors using antibody arrays in human tissues of various liver diseases, including HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 128, "end": 131}], "disease": [{"text": "liver diseases", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.", "output": {"entities": {"gene": [{"text": "GAS8", "start": 17, "end": 21}], "disease": [{"text": "Primary Ciliary Dyskinesia", "start": 38, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GAS8", "start": 17, "end": 21}, "tail": {"text": "Primary Ciliary Dyskinesia", "start": 38, "end": 64}}]}}, "schema": []}
{"input": "A significant number of patients infected with human immunodeficiency virus-1 (HIV-1) suffer cognitive impairment ranging from mild to severe HIV-associated dementia (HAD), a result of neuronal degeneration in the basal ganglia, cerebral cortex and hippocampus.", "output": {"entities": {"gene": [{"text": "HAD", "start": 167, "end": 170}], "disease": [{"text": "mild", "start": 127, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The impact of HIGT on endothelium-dependent vasodilation, nitrosyl-hemoglobin content (NO-Hb), and insulin sensitivity were studied using aortic ring preparations, electron spin resonance spectroscopy (ESR), homeostasis assessment of insulin resistance (HOMA-IR) calculations, and insulin tolerance testing (ITT).", "output": {"entities": {"gene": [{"text": "ESR", "start": 202, "end": 205}], "disease": [{"text": "insulin sensitivity", "start": 99, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "These include HFE, a class 1 HLA molecule involved in hereditary hemochromatosis, the divalent metal transporter (DMT-1), hephaestin, the transferrin receptor, and mobilferrin.", "output": {"entities": {"gene": [{"text": "DMT", "start": 114, "end": 117}], "disease": [{"text": "hereditary hemochromatosis", "start": 54, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We investigated the effects of the topoisomerase I inhibitor, topotecan, on vascular endothelial growth factor (VEGF) induction by hypoxia in advanced-stage human neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 112, "end": 116}], "disease": [{"text": "hypoxia", "start": 131, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The molecular basis of group A xeroderma pigmentosum (XP) was investigated, and 3 mutations located in a zinc finger consensus sequence (nucleotide 313-387) of the XP group A complementing (XPAC) gene were identified in 2 Caucasian patients GM2990 and GM2009 who had typical symptoms of group A XP.", "output": {"entities": {"gene": [{"text": "XPAC", "start": 190, "end": 194}], "disease": [{"text": "XP group A", "start": 164, "end": 174}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XPAC", "start": 190, "end": 194}, "tail": {"text": "XP group A", "start": 164, "end": 174}}]}}, "schema": []}
{"input": "Here, we analyzed eight probands with clinically suspected WS by whole-exome sequencing and identified three mutations: a 25. 4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c. 707G & gt; C, p. Arg236Thr) in EED (individual 2), and a missense mutation (c. 1829A & gt; T, p. Glu610Val) in SUZ12 (suppressor of zeste 12 homolog) (individual 3) inherited from her father (individual 4) with a mosaic mutation.", "output": {"entities": {"gene": [{"text": "SUZ12", "start": 325, "end": 330}], "disease": [{"text": "WS", "start": 59, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUZ12", "start": 325, "end": 330}, "tail": {"text": "WS", "start": 59, "end": 61}}]}}, "schema": []}
{"input": "Moreover, we observed on cellular level that XRCC4 deficiency leads to hypersensitivity to DSB-inducing agents and defective DSB repair, which results in increased cell death after exposure to genotoxic agents.", "output": {"entities": {"gene": [{"text": "XRCC4", "start": 45, "end": 50}], "disease": [{"text": "hypersensitivity", "start": 71, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We found that while VEGF-A expression increased during atherogenesis, VEGF-D expression remained relatively stable only decreasing in complicated lesions.", "output": {"entities": {"gene": [{"text": "VEGF-D", "start": 70, "end": 76}], "disease": [{"text": "atherogenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Assessment of these genes in the non-neoplastic cerebellum (from which medulloblastomas develop) revealed strong somatic methylation affecting S100A2 and S100A4, whereas S100A6 and S100A10 were unmethylated.", "output": {"entities": {"gene": [{"text": "S100A6", "start": 170, "end": 176}], "disease": [{"text": "non-neoplastic", "start": 33, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "To determine the parasite genotype in kala-azar patients from Northeastern Brazil, we sequenced the NAGT genes of L. infantum from 68 patients as well as the MIF1 and MIF2 genes from 76 different subjects with diverse clinical manifestations.", "output": {"entities": {"gene": [{"text": "MIF1", "start": 158, "end": 162}], "disease": [{"text": "kala-azar", "start": 38, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We have previously demonstrated that the overexpression of the p130Cas adaptor protein in ErbB2 positive breast cancer, promotes tumor aggressiveness and progression.", "output": {"entities": {"gene": [{"text": "p130Cas", "start": 63, "end": 70}], "disease": [{"text": "aggressiveness", "start": 135, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Orthotopic xenografts of NUMB-transduced human U87 glioma cells could be established in nude rats without impairing engraftment or causing significant changes in morphology based on magnetic resonance imaging (MRI).", "output": {"entities": {"gene": [{"text": "U87", "start": 47, "end": 50}], "disease": [{"text": "glioma", "start": 51, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Loss of Pum1 caused progressive motor dysfunction and SCA1-like neurodegeneration with motor impairment, primarily by increasing Ataxin1 levels.", "output": {"entities": {"gene": [{"text": "Pum1", "start": 8, "end": 12}], "disease": [{"text": "motor dysfunction", "start": 32, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Our results do not support an association of the INSIG2 gene with the regulation of body weight or parameters related to lipoprotein metabolism.", "output": {"entities": {"gene": [{"text": "INSIG2 gene", "start": 49, "end": 60}], "disease": [{"text": "body weight", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We studied expression patterns of Maspin in pTa/pT1 urothelial carcinoma of the bladder and compared them with microvessel density (MVD) for two vascular markers (CD34 and CD105) and correlated the findings with clinical outcome.", "output": {"entities": {"gene": [{"text": "MVD", "start": 132, "end": 135}], "disease": [{"text": "carcinoma of the bladder", "start": 63, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "These substrates are either parts of important signalling cascades (EGF, betacellulin, TGF-beta) or chemical components of myelin (neurofascin-ankyrin) known to be compromised in schizophrenia.", "output": {"entities": {"gene": [{"text": "neurofascin", "start": 131, "end": 142}], "disease": [{"text": "schizophrenia", "start": 179, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neurofascin", "start": 131, "end": 142}, "tail": {"text": "schizophrenia", "start": 179, "end": 192}}]}}, "schema": []}
{"input": "Twelve of 121 (10 per cent) gastric carcinomas from a low-incidence region were found to be RER +.", "output": {"entities": {"gene": [{"text": "RER", "start": 92, "end": 95}], "disease": [{"text": "carcinomas", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to determine the dose effect of smoking on the mutational frequency and spectrum of epidermal growth factor receptor (EGFR) gene in Korean non-small cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 135, "end": 139}], "disease": [{"text": "smoking", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Levels of IL-8 and MIP-1 alpha mRNA were elevated not only in atopic patients but also in non-atopic patients with inflammatory skin disease associated with eosinophilia, compared with levels in psoriatic patients and healthy controls.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 10, "end": 14}], "disease": [{"text": "atopic", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "TPH2 alleles and haplotypes are not significantly associated in our sample with autism (rs4570625: TDT P = 0. 27, and FBAT P = 0. 35; rs4565946: TDT P = 0. 45, and FBAT P = 0. 55; haplotype P = 0. 84), with any endophenotype, or with the presence/absence of prominent repetitive and stereotyped behaviors (motor stereotypies: P = 0. 81 and 0. 84, verbal stereotypies: P = 0. 38 and 0. 73 for rs4570625 and rs4565946, respectively).", "output": {"entities": {"gene": [{"text": "TDT", "start": 99, "end": 102}], "disease": [{"text": "stereotyped behaviors", "start": 283, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t (1; 14) (p22; q32).", "output": {"entities": {"gene": [{"text": "BCL10", "start": 45, "end": 50}], "disease": [{"text": "MALT lymphoma", "start": 101, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCL10", "start": 45, "end": 50}, "tail": {"text": "MALT lymphoma", "start": 101, "end": 114}}]}}, "schema": []}
{"input": "The AML1 transcription factor, identified by the cloning of the translocation t (8; 21) breakpoint, is one of the most frequent targets for chromosomal translocations in leukemia.", "output": {"entities": {"gene": [{"text": "AML1", "start": 4, "end": 8}], "disease": [{"text": "translocation", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of mutations in the RYR1 gene involved in a severe form of CCD presenting as a fetal akinesia syndrome with AD and AR inheritances.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 45, "end": 49}], "disease": [{"text": "CCD", "start": 84, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 45, "end": 49}, "tail": {"text": "CCD", "start": 84, "end": 87}}]}}, "schema": []}
{"input": "The human colorectal tumor cell line LoVo has a homozygous deletion in the hMSH2 gene from exon 3 to exon 8, is deficient in mismatch repair (MMR) activity, and exhibits microsatellite instability.", "output": {"entities": {"gene": [{"text": "MMR", "start": 142, "end": 145}], "disease": [{"text": "microsatellite instability", "start": 170, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We examine current evidence that the transactive response DNA-binding protein (TDP-43) plays a pathogenic role in both amyotrophic lateral sclerosis and frontotemporal dementia.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 58, "end": 77}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 119, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.", "output": {"entities": {"gene": [{"text": "CCND2", "start": 8, "end": 13}], "disease": [{"text": "Megalencephaly", "start": 56, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCND2", "start": 8, "end": 13}, "tail": {"text": "Megalencephaly", "start": 56, "end": 70}}]}}, "schema": []}
{"input": "Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.", "output": {"entities": {"gene": [{"text": "phenylalanine hydroxylase", "start": 31, "end": 56}], "disease": [{"text": "phenylketonuria", "start": 89, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "phenylalanine hydroxylase", "start": 31, "end": 56}, "tail": {"text": "phenylketonuria", "start": 89, "end": 104}}]}}, "schema": []}
{"input": "Their expression correlated with the severity of pancreatic neuritis, fibrosis, intrapancreatic nerve fiber density and hypertrophy, pain, CP duration and with the amount of inflammatory cell infiltrate immuno-positive for CD45 and CD68.", "output": {"entities": {"gene": [{"text": "CD68", "start": 232, "end": 236}], "disease": [{"text": "neuritis", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.", "output": {"entities": {"gene": [{"text": "3beta-hydroxysteroid-delta5-desaturase", "start": 96, "end": 134}], "disease": [{"text": "Lathosterolosis", "start": 0, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "3beta-hydroxysteroid-delta5-desaturase", "start": 96, "end": 134}, "tail": {"text": "Lathosterolosis", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "The FOS promoter showed 13. 9%, 32. 4%, and 70. 8% of the transcriptional activity of CMV in three glioma cell lines (U87, U251, and U373).", "output": {"entities": {"gene": [{"text": "U87", "start": 118, "end": 121}], "disease": [{"text": "glioma", "start": 99, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Only in one M006X tumour was there a suggestion of increased VEGF expression in cells adjacent to necrosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 61, "end": 65}], "disease": [{"text": "necrosis", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "To determine if CD4 (+) CD28 (null) T cells are involved in the immunopathological process of atherosclerotic damage in end-stage renal disease (ESRD) patients undergoing hemodialysis (HD), we characterized peripheral-blood CD4 (+) CD28 (null) T cells from HD patients and investigated the association between these cells and early atherosclerotic damage.", "output": {"entities": {"gene": [{"text": "CD4", "start": 16, "end": 19}], "disease": [{"text": "end-stage renal disease", "start": 120, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Here, we report for the first time comprehensive functional effects of term placental KPs on proliferation, adhesion, Matrigel invasion, motility, MMP activity and pro-inflammatory cytokine production in MDA-MB-231 (estrogen receptor-negative) and MCF-7 (estrogen receptor-positive).", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 216, "end": 233}], "disease": [{"text": "adhesion", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Abnormal distribution, modification and aggregation of transactivation response DNA-binding protein 43 (TDP-43) are the hallmarks of multiple neurodegenerative diseases, especially frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 80, "end": 99}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 263, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "The uncontrolled generation of IFN-gamma-producing CD4 (+) T cells (Th1 type) has been shown to play a causal role in the development of enterocolitis affecting these mutants.", "output": {"entities": {"gene": [{"text": "Th1", "start": 68, "end": 71}], "disease": [{"text": "enterocolitis", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that the molecular basis for PEHO syndrome, in at least a subset of patients, is a dominant KIF1A variant affecting the motor domain of the protein.", "output": {"entities": {"gene": [{"text": "KIF1A", "start": 113, "end": 118}], "disease": [{"text": "PEHO syndrome", "start": 50, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIF1A", "start": 113, "end": 118}, "tail": {"text": "PEHO syndrome", "start": 50, "end": 63}}]}}, "schema": []}
{"input": "Taken together, these data indicate that the HSAN1 mutations perturb the active site of SPT resulting in a gain of function that is responsible for the HSAN1 phenotype.", "output": {"entities": {"gene": [{"text": "HSAN1", "start": 45, "end": 50}], "disease": [{"text": "HSAN1", "start": 152, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSAN1", "start": 45, "end": 50}, "tail": {"text": "HSAN1", "start": 152, "end": 157}}]}}, "schema": []}
{"input": "This study underlines the accuracy conferred by homogenous LCM samples on gene expression profiles and confers further evidence regarding the role of ADAM12 and 17 in the breast tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "ADAM12", "start": 150, "end": 156}], "disease": [{"text": "tumorigenesis", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We report the cases of two children who presented with abnormal development of both hips and in whom novel mutations in the COL2A1 gene were found.", "output": {"entities": {"gene": [{"text": "COL2A1 gene", "start": 124, "end": 135}], "disease": [{"text": "abnormal development", "start": 55, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The results indicated statistically significant lower protein and mRNA levels of the N-methyl-D-aspartate receptors, NR-1 and NR-3A, but significantly higher protein and mRNA levels of interleukin (IL)-1beta, the IL-1 receptor (IL-1R), myeloid differentiation factor 88, nuclear factor-kappa B subunits, and astroglial and microglial markers (glial fibrillary acidic protein, inducible nitric oxide synthase, c-fos and CD11b) in postmortem frontal cortex from BD compared with control subjects.", "output": {"entities": {"gene": [{"text": "glial fibrillary acidic protein", "start": 343, "end": 374}], "disease": [{"text": "BD", "start": 460, "end": 462}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glial fibrillary acidic protein", "start": 343, "end": 374}, "tail": {"text": "BD", "start": 460, "end": 462}}]}}, "schema": []}
{"input": "The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21.", "output": {"entities": {"gene": [{"text": "SHOX gene", "start": 108, "end": 117}], "disease": [{"text": "translocation", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Further studies are needed to evaluate the involvement of CART in other components of the cocaine abuse cycle.", "output": {"entities": {"gene": [{"text": "CART", "start": 58, "end": 62}], "disease": [{"text": "cocaine abuse", "start": 90, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CART", "start": 58, "end": 62}, "tail": {"text": "cocaine abuse", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "Our objective was to determine the frequency of GLI2 mutations in patients with multiple pituitary hormone deficiency (MPHD).", "output": {"entities": {"gene": [{"text": "GLI2", "start": 48, "end": 52}], "disease": [{"text": "pituitary hormone deficiency", "start": 89, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The results of the present study show that the anti-diabetic drug troglitazone sensitizes human glioma and neuroblastoma cells to TRAIL-induced apoptosis.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 130, "end": 135}], "disease": [{"text": "neuroblastoma", "start": 107, "end": 120}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRAIL", "start": 130, "end": 135}, "tail": {"text": "neuroblastoma", "start": 107, "end": 120}}]}}, "schema": []}
{"input": "These data demonstrate that addiction to the NF-kappaB pathway is frequent in myeloma and suggest that IKKbeta inhibitors hold promise for the treatment of this disease.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 45, "end": 54}], "disease": [{"text": "addiction", "start": 28, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we sought to determine whether variation within the human Sapap3 gene was associated with grooming disorders (GDs: pathologic nail biting, pathologic skin picking, and/or trichotillomania) and/or obsessive-compulsive disorder (OCD) in 383 families thoroughly phenotyped for OCD genetic studies.", "output": {"entities": {"gene": [{"text": "Sapap3", "start": 80, "end": 86}], "disease": [{"text": "trichotillomania", "start": 193, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "This effect was important insofar as mammary tumorigenesis was delayed and tumor multiplicity was reduced by genetic deletion of CX3CL1 in HER2/neu mice, but not in polyoma middle T-antigen oncomice.", "output": {"entities": {"gene": [{"text": "CX3CL1", "start": 129, "end": 135}], "disease": [{"text": "mammary tumorigenesis", "start": 37, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "These observations were supported by quantitative reverse transcription-polymerase chain reaction, for miR-328, miR-17-5p, miR-134, miR-652, miR-382, and miR-107 and were consistent with a schizophrenia-associated increase in miRNA processing through elevated Dicer expression.", "output": {"entities": {"gene": [{"text": "miR-107", "start": 154, "end": 161}], "disease": [{"text": "schizophrenia", "start": 189, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-107", "start": 154, "end": 161}, "tail": {"text": "schizophrenia", "start": 189, "end": 202}}]}}, "schema": []}
{"input": "We compared the leukemia cell gene expression profiles of 16 TEL/AML1-positive ALL patients to those of 44 TEL/AML1-negative patients, whose blast cells did not contain any additional recurrent translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 65, "end": 69}], "disease": [{"text": "translocation", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Inactivation of the genes involved in DNA mismatch repair (MMR) is associated with microsatellite instability (MSI) and loss of heterozygosity (LOH).", "output": {"entities": {"gene": [{"text": "MMR", "start": 59, "end": 62}], "disease": [{"text": "microsatellite instability", "start": 83, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The ider (17) (q10) t (15; 17) is a relatively rare chromosomal rearrangement in acute promyelocytic leukemia patients.", "output": {"entities": {"gene": [{"text": "q10", "start": 15, "end": 18}], "disease": [{"text": "acute promyelocytic leukemia", "start": 81, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The initial study found that urine concentrations of the metabolites 1, 2-dihydroxy-4-(acetyl) butane (M1) and 1-dihydroxy-2-(N-acetylcysteinyl)-3-butene (M2) and blood concentrations of the hemoglobin adducts N-[2-hydroxy-3-butenyl] valine (HB-Val) and N-[2, 3, 4-trihydroxy-butyl] valine (THB-Val) constitute excellent biomarkers of exposure, both being highly correlated with BD exposure levels, and that GST genotypes modulate at least one metabolic pathway, but that irreversible genotoxic effects such as chromosome aberrations and HPRT gene mutations are neither associated with BD exposure levels nor with worker genotypes (GST [glutathione-S-transferase]-M1, GSTT1, CYP2E1 (5' promoter), CYP2E1 (intron 6), EH [epoxide hydrolase] 113, EH139, ADH [alcohol dehydrogenase] 2 and ADH3).", "output": {"entities": {"gene": [{"text": "ADH3", "start": 785, "end": 789}], "disease": [{"text": "chromosome aberrations", "start": 511, "end": 533}]}, "relations": {}}, "schema": []}
{"input": "To challenge this notion, here we describe the unique properties of the E79K cationic trypsinogen mutation (c. 235G & gt; A), which was identified in three European families affected by sporadic or familial pancreatitis cases.", "output": {"entities": {"gene": [{"text": "cationic trypsinogen", "start": 77, "end": 97}], "disease": [{"text": "familial pancreatitis", "start": 198, "end": 219}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cationic trypsinogen", "start": 77, "end": 97}, "tail": {"text": "familial pancreatitis", "start": 198, "end": 219}}]}}, "schema": []}
{"input": "When HepG2 cells were transfected with ARK5 expression vector and subjected to several cell death stimuli, ARK5 was found to suppress cell death by glucose starvation, TRAIL, and TNF-alpha, but not by ultraviolet irradiation, camptothecin, or doxorubicin.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 179, "end": 188}], "disease": [{"text": "starvation", "start": 156, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that ISO-induced cardiac hypertrophy is mediated, at least in part, by IGF-I, the expression of which is upregulated through the activation of AT1 receptor.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 93, "end": 98}], "disease": [{"text": "cardiac hypertrophy", "start": 39, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGF-I", "start": 93, "end": 98}, "tail": {"text": "cardiac hypertrophy", "start": 39, "end": 58}}]}}, "schema": []}
{"input": "A MIF haplotype is associated with the outcome of patients with severe sepsis: a case control study.", "output": {"entities": {"gene": [{"text": "MIF", "start": 2, "end": 5}], "disease": [{"text": "severe sepsis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Treatment with an inhibitor of EZH2 markedly increased expression levels of RAD51 and BRCA1 in fibroid cells and inhibited cell proliferation paired with cell cycle arrest.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 76, "end": 81}], "disease": [{"text": "fibroid", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Overall, there was no relationship between TRAP exposure during the first year of life and current asthma, wheeze and hay fever at ages 12 or 18 years.", "output": {"entities": {"gene": [{"text": "TRAP", "start": 43, "end": 47}], "disease": [{"text": "asthma", "start": 99, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "However, with the recent identification of SREBF1 as a risk locus for sporadic PD, our findings suggest a common mechanistic link between autosomal recessive and sporadic PD, and underscore the importance of mitochondrial homeostasis.", "output": {"entities": {"gene": [{"text": "SREBF1", "start": 43, "end": 49}], "disease": [{"text": "sporadic", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.", "output": {"entities": {"gene": [{"text": "insulin-like growth factor 1", "start": 35, "end": 63}], "disease": [{"text": "IGF1) deficiency", "start": 65, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin-like growth factor 1", "start": 35, "end": 63}, "tail": {"text": "IGF1) deficiency", "start": 65, "end": 81}}]}}, "schema": []}
{"input": "The development of new techniques such as FISH, comparative genomic hybridisation (CGH) and a whole range of molecular methods is being applied to identify abnormalities in this relatively common B-cell leukaemia.", "output": {"entities": {"gene": [{"text": "FISH", "start": 42, "end": 46}], "disease": [{"text": "leukaemia", "start": 203, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "We have identified c-kit gene mutations in three patients with piebaldism.", "output": {"entities": {"gene": [{"text": "c-kit", "start": 19, "end": 24}], "disease": [{"text": "piebaldism", "start": 63, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "c-kit", "start": 19, "end": 24}, "tail": {"text": "piebaldism", "start": 63, "end": 73}}]}}, "schema": []}
{"input": "The mono-allelic loss of the IGF-I receptor (IGF1R) gene was confirmed in a child with prenatal and severe postnatal growth retardation by fluorescence in situ hybridization, and was evaluated on the protein level in fibroblasts of the patient by FACS analysis and IGF cross-linkage.", "output": {"entities": {"gene": [{"text": "IGF1R", "start": 45, "end": 50}], "disease": [{"text": "mono", "start": 4, "end": 8}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, we found the lack of cosegregation between blood pressure and the nerve growth factor receptor gene, which is linked to a hypertensinogenic gene locus (denoted as BP/SP-1) on chromosome 10.", "output": {"entities": {"gene": [{"text": "nerve growth factor receptor gene", "start": 85, "end": 118}], "disease": [{"text": "blood pressure", "start": 62, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Treatment with anti-glomerular basement membrane antibody in calponin knockout mice induced more severe nephritis than in wild type mice, as judged from an increase in the urinary protein excretion, glomerular cellularity, and number of proliferating cell nuclear antigen-positive cells in glomerulus.", "output": {"entities": {"gene": [{"text": "proliferating cell nuclear antigen", "start": 237, "end": 271}], "disease": [{"text": "nephritis", "start": 104, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In cultured fibroblasts of patients with numerical and structural X chromosome aberrations the activity of steroid sulfatase (STS) is correlated with the number of functional STS gene copies.", "output": {"entities": {"gene": [{"text": "STS gene", "start": 175, "end": 183}], "disease": [{"text": "chromosome aberrations", "start": 68, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Post-stroke depression (PSD) is a mental illness characterized by subjective feelings of depression, cognitive dysfunction, and decreased interest.", "output": {"entities": {"gene": [{"text": "PSD", "start": 24, "end": 27}], "disease": [{"text": "stroke", "start": 5, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "However, how Wnt10b regulates skin tumorigenesis remains largely unknown.", "output": {"entities": {"gene": [{"text": "Wnt10b", "start": 13, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We have exploited the possibility of using deletions of other tumour types, preferentially that of germ cell tumours, and combining the deletions with that of the neuroblastoma SRO.", "output": {"entities": {"gene": [{"text": "SRO", "start": 177, "end": 180}], "disease": [{"text": "neuroblastoma", "start": 163, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The synovial sarcoma translocation t (X; 18) (p11. 2; q11. 2) results in the fusion of the SYT gene on chromosome 18 to exon 5 of either SSX1 or SSX2 genes on chromosome X.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 145, "end": 149}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In isolated glomeruli from mice injected with polyIC, expressions of CD80 and interleukin 10 significantly increased with a mild non-significant increase in CTLA-4, and synaptopodin expression decreased significantly.", "output": {"entities": {"gene": [{"text": "interleukin 10", "start": 78, "end": 92}], "disease": [{"text": "mild", "start": 124, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "To provide direct evidence that MIA plays a role in metastasis of malignant melanomas, A-mel 3 hamster melanoma cells were transfected with sense-and antisense rhMIA cDNA and analysed subsequently for changes in their tumorigenic and metastatic potential.", "output": {"entities": {"gene": [{"text": "MIA", "start": 32, "end": 35}], "disease": [{"text": "hamster melanoma", "start": 95, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We determined the incidence of TEL/AML1 translocation with reverse transcriptase polymerase chain reaction (RT-PCR) and flow-cytometric immunophenotyping of newly diagnosed pediatric acute lymphoblastic leukemia patients in Thailand.", "output": {"entities": {"gene": [{"text": "AML1", "start": 35, "end": 39}], "disease": [{"text": "translocation", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In order to investigate how chronic liver diseases, including liver cirrhosis and chronic hepatitis, are associate with hepatocarcinogenesis in terms of gene alteration, the methylation states of the c-myc and c-Ki-ras genes were examined in 34 liver tissues from patients with chronic liver disease without hepatocellular carcinoma (HCC), 34 non-tumor liver tissues from patients with HCC, 18 HCC tissues and 31 control liver tissues.", "output": {"entities": {"gene": [{"text": "c-myc", "start": 200, "end": 205}], "disease": [{"text": "chronic liver disease", "start": 28, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Messenger RNA of heat shock protein 70 was induced in dentate gyrus and CA3 and CA4 subfields of the hippocampus 1 h after ischaemia.", "output": {"entities": {"gene": [{"text": "CA3", "start": 72, "end": 75}], "disease": [{"text": "ischaemia", "start": 123, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We conclude that these polymorphisms of the TNF genes are unlikely to contribute to atopic disease risk in our population.", "output": {"entities": {"gene": [{"text": "TNF", "start": 44, "end": 47}], "disease": [{"text": "atopic", "start": 84, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To explore the role and mechanisms of FOXO3a nuclear translocation in neuronal apoptosis after hypoxia-ischemia (HI).", "output": {"entities": {"gene": [{"text": "FOXO3a", "start": 38, "end": 44}], "disease": [{"text": "hypoxia", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the characteristic aldosterone excess of PA patients may mediate the down-regulation of PCK1, PLIN and ADIPOQ in VAT that in turn may contribute to the insulin resistance observed in PA patients.", "output": {"entities": {"gene": [{"text": "PCK1", "start": 99, "end": 103}], "disease": [{"text": "insulin resistance", "start": 163, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Our findings have identified, for the first time, novel molecular targets and pathways that led to apoptosis in melanoma cells when Ad-E2F-1 was combined with doxorubicin.", "output": {"entities": {"gene": [{"text": "E2F-1", "start": 135, "end": 140}], "disease": [{"text": "melanoma", "start": 112, "end": 120}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "E2F-1", "start": 135, "end": 140}, "tail": {"text": "melanoma", "start": 112, "end": 120}}]}}, "schema": []}
{"input": "Robust NME1 expression was achieved following infection with the Ad5-NME1 adenovirus in the human metastasis-derived cell lines WM1158 (melanoma) and WRO82 (follicular thyroid carcinoma), resulting in wide-ranging effects on gene expression in both settings.", "output": {"entities": {"gene": [{"text": "NME1", "start": 7, "end": 11}], "disease": [{"text": "adenovirus", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "PDGF-A, PDGF-Rbeta, TGFbeta3 and bone morphogenic protein-4 in desmoplastic small round cell tumors with EWS-WT1 gene fusion product and their role in stromal desmoplasia: an immunohistochemical study.", "output": {"entities": {"gene": [{"text": "WT1 gene", "start": 109, "end": 117}], "disease": [{"text": "desmoplastic", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We aimed to evaluate whether the frequency of three polymorphisms in hypoxia-induced factor-1α (HIF-1α), vascular endothelial growth factor A (VEGFA), and KDR (encoding vascular endothelial growth factor receptor 2) genes was higher in alcoholics presenting liver disease (ALD) and ALD patients who developed HCC.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 143, "end": 148}], "disease": [{"text": "hypoxia", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "RAD51 (pY315) facilitates dissociation from the complex with BCR-ABL1 kinase, migrates to the nucleus, and enhances formation of the nuclear foci indicative of recombination sites.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 0, "end": 5}], "disease": [{"text": "dissociation", "start": 26, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Evidence indicates that all three proteins are increased in the presence of insulin resistance and factor VII and PAI-1 correlate strongly with circulating levels of insulin and lipids.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 99, "end": 109}], "disease": [{"text": "insulin resistance", "start": 76, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.", "output": {"entities": {"gene": [{"text": "HSD2", "start": 51, "end": 55}], "disease": [{"text": "apparent mineralocorticoid excess", "start": 148, "end": 181}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSD2", "start": 51, "end": 55}, "tail": {"text": "apparent mineralocorticoid excess", "start": 148, "end": 181}}]}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "DDIT4L", "start": 91, "end": 97}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DDIT4L", "start": 91, "end": 97}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "CD26 was not detected on normal SC or LSC in other hematopoietic malignancies.", "output": {"entities": {"gene": [{"text": "LSC", "start": 38, "end": 41}], "disease": [{"text": "hematopoietic malignancies", "start": 51, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Grouping patients by the VDR gene polymorphism, only PTH continued to be an independent predictor of spinal bone density in the bb allele subgroup (R (2) Adj. = 0. 17).", "output": {"entities": {"gene": [{"text": "PTH", "start": 53, "end": 56}], "disease": [{"text": "bone density", "start": 108, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "These data allowed us to draw a conclusion that 8-Cl-Ado-enhanced DR5 expression is regulated by Sp1 binding to the-198/-189 cis-element in DR5 promoter without affecting NF-kappaB activity in the hepatoma cells.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 97, "end": 100}], "disease": [{"text": "hepatoma", "start": 197, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "The serotonin transporter gene (SLC6A4) is a strong autism candidate gene because of its association with anxiety, aggression and attention, and the effectiveness of selective serotonin reuptake inhibitors (SSRIs) in treating certain behavioral symptoms.", "output": {"entities": {"gene": [{"text": "SLC6A4", "start": 32, "end": 38}], "disease": [{"text": "aggression", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Together, our data suggest that p300 HAT activity mediates critical growth regulatory pathways in tumor cells and may serve as a potential therapeutic target for melanoma and other malignancies by promoting cellular responses to DNA damaging agents that are currently ineffective against specific cancers.", "output": {"entities": {"gene": [{"text": "p300 HAT", "start": 32, "end": 40}], "disease": [{"text": "melanoma", "start": 162, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p300 HAT", "start": 32, "end": 40}, "tail": {"text": "melanoma", "start": 162, "end": 170}}]}}, "schema": []}
{"input": "The results showed that (1) PM2. 5 deposited in the lung and induced pathological damage, particularly causing abnormal alterations of mitochondrial structure, including mitochondrial swelling and cristae disorder or even fragmentation in the presence of higher doses of PM2. 5; (2) PM2. 5 significantly affected the expression of specific mitochondrial fission/fusion markers (OPA1, Mfn1, Mfn2, Fis1, and Drp1) in rat lung; (3) PM2. 5 inhibited Mn superoxide dismutase (MnSOD), Na (+) K (+)-ATPase, and Ca (2 +)-ATPase activities and elevated malondialdehyde (MDA) content in rat lung mitochondria; and (4) PM2. 5 induced rat AMs to produce ROS, which was inhibited by about 84. 1% by diphenyleneiodonium chloride (DPI), an important ROS generation inhibitor.", "output": {"entities": {"gene": [{"text": "Mfn2", "start": 390, "end": 394}], "disease": [{"text": "mitochondrial swelling", "start": 170, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Direct sequencing of the Bcl-2/IgH translocation performed at diagnosis and recurrence showed identical rearrangements in six subjects and unrelated rearrangements in two.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 25, "end": 30}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 48, "end": 71}], "disease": [{"text": "generalized glucocorticoid resistance", "start": 79, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glucocorticoid receptor", "start": 48, "end": 71}, "tail": {"text": "generalized glucocorticoid resistance", "start": 79, "end": 116}}]}}, "schema": []}
{"input": "Patients diagnosed with both autism and ASP showed significantly increased levels of EPA (approximately 200%) and DHA (approximately 40%), and significantly reduced levels of ARA (approximately 20%), 20: 3n-6 and ARA/EPA ratio in their RBC polar lipids, when supplemented with EPA-rich fish oils, compared to controls and non-supplemented patients with autism.", "output": {"entities": {"gene": [{"text": "ASP", "start": 40, "end": 43}], "disease": [{"text": "autism", "start": 29, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "The activation of B-cell-specific genes, such as CD19 and PAX5, is a hallmark of t (8; 21) acute myeloid leukemia (AML) which expresses the translocation product RUNX1/ETO.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 162, "end": 167}], "disease": [{"text": "translocation", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Ovarian malignancies occurring in the setting of hereditary nonpolyposis colorectal carcinoma syndrome typically present in young women, often as the first or \" sentinel \" cancer, but the frequency of microsatellite instability (MSI) and mismatch repair (MMR) defects in ovarian surface epithelial malignancies in women < or = 50 years of age is neither well known nor well tested.", "output": {"entities": {"gene": [{"text": "MMR", "start": 255, "end": 258}], "disease": [{"text": "microsatellite instability", "start": 201, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton' s tyrosine kinase.", "output": {"entities": {"gene": [{"text": "Bruton' s tyrosine kinase", "start": 161, "end": 186}], "disease": [{"text": "X-linked agammaglobulinaemia", "start": 63, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Bruton' s tyrosine kinase", "start": 161, "end": 186}, "tail": {"text": "X-linked agammaglobulinaemia", "start": 63, "end": 91}}]}}, "schema": []}
{"input": "This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 41, "end": 45}], "disease": [{"text": "WS-III", "start": 67, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX3", "start": 41, "end": 45}, "tail": {"text": "WS-III", "start": 67, "end": 73}}]}}, "schema": []}
{"input": "In individuals with normal glucose metabolism, the-374A allele of the RAGE gene is protectively associated with blood pressure and arterial stiffness, whereas in individuals with impaired glucose metabolism or type 2 diabetes mellitus, it is adversely associated with these variables.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 70, "end": 74}], "disease": [{"text": "arterial stiffness", "start": 131, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.", "output": {"entities": {"gene": [{"text": "C2CD3", "start": 38, "end": 43}], "disease": [{"text": "oral-facial-digital syndrome", "start": 4, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C2CD3", "start": 38, "end": 43}, "tail": {"text": "oral-facial-digital syndrome", "start": 4, "end": 32}}]}}, "schema": []}
{"input": "Aging exacerbated the HFD-induced NASH such that liver steatosis, inflammation, fibrosis, oxidative stress, and liver injury markers were greatly enhanced in middle-aged versus young LDLR (-/-) mice.", "output": {"entities": {"gene": [{"text": "LDLR", "start": 183, "end": 187}], "disease": [{"text": "fibrosis", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Aim of the study was analysis of dependence of clinical picture and degree of severity of left ventricular hypertrophy (LVH) on polymorphism A/C of ATR1 gene in patients with hypertrophic cardiomyopathy (HCMP) and hypertensive disease (HD).", "output": {"entities": {"gene": [{"text": "ATR1", "start": 148, "end": 152}], "disease": [{"text": "left ventricular hypertrophy", "start": 90, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "One hundred seventy-seven vulvar intraepithelial neoplasms (VIN), squamous cell carcinomas (SCC), and benign squamous epithelia were analyzed for p16 expression.", "output": {"entities": {"gene": [{"text": "VIN", "start": 60, "end": 63}], "disease": [{"text": "intraepithelial neoplasms", "start": 33, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "β2-Glycoprotein I (β2-GPI), also designated apolipoprotein H, is a 50-kDa protein that circulates in blood at high concentrations, playing important roles in autoimmune diseases, hemostasis, atherogenesis, and angiogenesis, as well as in host defense against bacteria and in protein/cellular waste removal.", "output": {"entities": {"gene": [{"text": "apolipoprotein H", "start": 44, "end": 60}], "disease": [{"text": "atherogenesis", "start": 191, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Only 4. 5% of patients with factor V Leiden presenting with acute PE had hypoxaemia.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 28, "end": 43}], "disease": [{"text": "hypoxaemia", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "DFSP is characterized by a chromosomal translocation involving the collagen type I a 1 (COL1A1) gene on chromosome 17 and the platelet-derived growth factor B-chain (PDGFB) gene on chromosome 22.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 166, "end": 171}], "disease": [{"text": "chromosomal translocation", "start": 27, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The current investigation focused on detection of PtdSer on the outer leaflet of the bilayer in synaptosomes from brain of subjects with AD and amnestic mild cognitive impairment (MCI), as well as expression levels of apoptosis-related proteins Bcl-2, Bax, and caspase-3.", "output": {"entities": {"gene": [{"text": "caspase-3", "start": 261, "end": 270}], "disease": [{"text": "AD", "start": 137, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caspase-3", "start": 261, "end": 270}, "tail": {"text": "AD", "start": 137, "end": 139}}]}}, "schema": []}
{"input": "MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability.", "output": {"entities": {"gene": [{"text": "MLH3", "start": 0, "end": 4}], "disease": [{"text": "microsatellite instability", "start": 59, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "These observations demonstrate that INI1 has a masked NES that mediates regulated hCRM1/exportin1-dependent nuclear export and we propose that mutations that cause deregulated nuclear export of the protein could lead to tumorigenesis.", "output": {"entities": {"gene": [{"text": "NES", "start": 54, "end": 57}], "disease": [{"text": "tumorigenesis", "start": 220, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "The bcl-2 gene, isolated from the t (14; 18) chromosomal translocation breakpoint, is able to prevent apoptotic death induced by various stimuli in different tissues.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 4, "end": 14}], "disease": [{"text": "chromosomal translocation", "start": 45, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We investigated the effect of functional polymorphisms in the MHC2TA gene (CIITA), and two additional genes; C-type lectin domain 16A (CLEC16A), in linkage disequilibrium with CIITA and Interferon-γ (IFNG), an inducer of CIITA; on bone density, bone resorption markers, bone loss and fracture risk in 75 year-old women followed for up to 10 years (OPRA n = 1003) and in young adult women (PEAK-25 n = 999).", "output": {"entities": {"gene": [{"text": "CLEC16A", "start": 135, "end": 142}], "disease": [{"text": "bone density", "start": 231, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "MUC1 enhances hypoxia-driven angiogenesis through the regulation of multiple proangiogenic factors.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The in vivo role of Bcl-2 in melanoma cells thus differs significantly from its in vitro role, and these experiments further suggest that Bcl-2 may be an important therapeutic target even in tumors that do not contain the t14: 18 translocation.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 20, "end": 25}], "disease": [{"text": "translocation", "start": 230, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Six proteins were found to significantly differ among the four treatment groups, with Δ9-THC and ovariectomy (OVX) decreasing the mitochondrial proteins, pyruvate carboxylase and NADH dehydrogenase, whereas the levels of putative cytosolic molecular chaperones NM23B, translationally controlled tumor protein, DJ-1 and activator of heat-shock 90kDa protein ATPase homolog 1 (AHA1) were increased.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 310, "end": 314}], "disease": [{"text": "shock", "start": 337, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "We identified 10 eligible studies that evaluated six VDR variants (Apa1, Bsm1, Cdx2, EcoRV, Fok1, and Taq1) in a total of 4, 961 melanoma patients and 4, 605 controls.", "output": {"entities": {"gene": [{"text": "Apa1", "start": 67, "end": 71}], "disease": [{"text": "melanoma", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "As a new feature of changes on MRI, striking cortical changes of hyperintense signals are described in diffusion weighted as well as T2 weighted MRI that directly correlate with the histomorphological spongy degeneration of the brain in this region.", "output": {"entities": {"gene": [{"text": "MRI", "start": 31, "end": 34}], "disease": [{"text": "spongy degeneration of the brain", "start": 201, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "It has been postulated that the Th1 cytokine IFNgamma, acting through its heterodimeric receptors, IFNgammaR1 and IFNgammaR2, in the induction/proliferation of Th1 cells, might suppress the Th2 responses that may underlie atopic asthma.", "output": {"entities": {"gene": [{"text": "Th1", "start": 32, "end": 35}], "disease": [{"text": "atopic asthma", "start": 222, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Global ischemia led to extensive cell death in the striatum, thalamus, and in the CA1 and CA2, and less-pronounced cell death in the CA3 and dentate gyrus (DG) hippocampal subfields.", "output": {"entities": {"gene": [{"text": "CA3", "start": 133, "end": 136}], "disease": [{"text": "ischemia", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "VIP did not stimulate HIF-1alpha mRNA expression but increased the translocation of HIF-1alpha from the cytosolic compartment to the cell nucleus.", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 22, "end": 32}], "disease": [{"text": "translocation", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We measured and compared previously significant human leukocyte antigen (HLA) class II DQ alleles, their linked DRB genes, and polymorphisms in selected cytokine genes (tumor necrosis factor alpha-308 promoter; transforming growth factor beta1-10 and-25 codons; interleukin 10-1082,-819, and-592 promoters; interleukin 6-174 promoter; and interferon gamma + 874 codon 1) among Kenyan women with confirmed tubal infertility with and without C trachomatis microimmunofluorescence antibody.]", "output": {"entities": {"gene": [{"text": "interleukin 6", "start": 307, "end": 320}], "disease": [{"text": "infertility", "start": 411, "end": 422}]}, "relations": {}}, "schema": []}
{"input": "Here we describe the relationship between IL-21 and antibodies for erythrocyte-binding antigen-175 (EBA-175) peptide 4, a malaria vaccine candidate in Gabonese children with acute falciparum malaria.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 42, "end": 47}], "disease": [{"text": "falciparum malaria", "start": 180, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Using RNA interference, we showed on glioma cell lines (U87 and U251) that EPOR silencing induces a G2/M cell cycle arrest, consistent with the slowdown of glioma growth induced by EPOR knock-down.", "output": {"entities": {"gene": [{"text": "U87", "start": 56, "end": 59}], "disease": [{"text": "glioma", "start": 37, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Therefore, Myc suppresses p27 (Kip1) expression, accelerates cell proliferation and promotes tumorigenesis at least in part through its ability to selectively induce Cks1.", "output": {"entities": {"gene": [{"text": "p27", "start": 26, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The vector expressing FGF-2 and BDNF decreased both mossy fiber sprouting and the frequency and severity of spontaneous seizures.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 32, "end": 36}], "disease": [{"text": "seizures", "start": 120, "end": 128}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "BDNF", "start": 32, "end": 36}, "tail": {"text": "seizures", "start": 120, "end": 128}}]}}, "schema": []}
{"input": "Histological examination revealed that the combination therapy led to significant increased induction of apoptosis, tumor necrosis, and elevated CD8 (+) lymphocyte infiltration.", "output": {"entities": {"gene": [{"text": "CD8", "start": 145, "end": 148}], "disease": [{"text": "tumor necrosis", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Age at diagnosis, penetrance, and clinical complications were analyzed for medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism (HPT), as well as overall survival.", "output": {"entities": {"gene": [{"text": "HPT", "start": 153, "end": 156}], "disease": [{"text": "medullary thyroid carcinoma", "start": 75, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Calcitonin injection resulted in a potentiation of haloperidol-induced catalepsy and a partial prevention of apomorphine-induced hyperactivity.", "output": {"entities": {"gene": [{"text": "Calcitonin", "start": 0, "end": 10}], "disease": [{"text": "catalepsy", "start": 71, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Calcitonin", "start": 0, "end": 10}, "tail": {"text": "catalepsy", "start": 71, "end": 80}}]}}, "schema": []}
{"input": "Recent reports have indicated that p63 plays important role in tumorigenesis as well.", "output": {"entities": {"gene": [{"text": "p63", "start": 35, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, miR-9 expression down-regulated NF-κB1 in melanoma and the effect was abolished by mutations in the putative miR-9 binding sites within the 3'-untranslated region (UTR) of NF-κB1.", "output": {"entities": {"gene": [{"text": "UTR", "start": 181, "end": 184}], "disease": [{"text": "melanoma", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "T1D risk-associated haplotypes (DR4)-DQA1 * 0301-DQB1 * 0302, (DR3)-DQA1 * 0501-DQB1 * 0201, and (DR1)-DQA1 * 0101-04-DQB1 * 0501 were more prevalent among children with diabetes than controls (50. 0%, 41. 1%, and 37. 9% vs. 10. 3%, 5. 1%, and 24. 4%, P < 0. 001).", "output": {"entities": {"gene": [{"text": "DR1", "start": 98, "end": 101}], "disease": [{"text": "diabetes", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "While patients affected by these disorders show definitive altered parameters related to erythropoiesis, the relationship between the degree of anemia, altered erythropoiesis, and dysfunctional iron metabolism has not been investigated in both α-thalassemia carriers (ATC) and β-thalassemia carriers (BTC).", "output": {"entities": {"gene": [{"text": "BTC", "start": 301, "end": 304}], "disease": [{"text": "anemia", "start": 144, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Novel insertion and deletion mutations in the 5'-UTR of the folate receptor-alpha gene: an additional contributor to hyperhomocysteinemia?", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 76, "end": 86}], "disease": [{"text": "hyperhomocysteinemia", "start": 117, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "These data highlight the potential utility of eNOS gene therapy in the treatment of hypertension and insulin resistance.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 46, "end": 50}], "disease": [{"text": "insulin resistance", "start": 101, "end": 119}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "eNOS", "start": 46, "end": 50}, "tail": {"text": "insulin resistance", "start": 101, "end": 119}}]}}, "schema": []}
{"input": "The stimulatory effect on migration was blocked by an adenosine receptor antagonist, MRS1754, ARL67156, an ecto-ATPase inhibitor, and A2A receptor siRNA, suggesting that in contrast to ATP, adenosine, a metabolic product of ATP, promoted migration of breast cancer cells.", "output": {"entities": {"gene": [{"text": "ecto-ATPase", "start": 107, "end": 118}], "disease": [{"text": "breast cancer", "start": 251, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that over-expression of LSD1 protein were associated with shorter overall survival of NSCLC patients.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 43, "end": 47}], "disease": [{"text": "NSCLC", "start": 105, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LSD1", "start": 43, "end": 47}, "tail": {"text": "NSCLC", "start": 105, "end": 110}}]}}, "schema": []}
{"input": "The FISH and HR-CGH analyses showed frequent occurrence of trisomy 12, del (11) (q23), del (17) (p13) and genetic imbalances, but recurrent genetic lesion characteristic for CLL/PL was not found.", "output": {"entities": {"gene": [{"text": "p13", "start": 97, "end": 100}], "disease": [{"text": "trisomy 12", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The frequency of each HLA-DRB1 allele was not significantly different between patient group with pre-eclampsia negative for ACA and group of normal fertile women.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 22, "end": 30}], "disease": [{"text": "pre-eclampsia", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Specifically, mice null for nrip1 gene are viable, but females are infertile because of complete failure of mature follicles to release oocytes at ovulation stage.", "output": {"entities": {"gene": [{"text": "nrip1 gene", "start": 28, "end": 38}], "disease": [{"text": "infertile", "start": 67, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Disruption of the C57BL/6J Polι conferred 129X1/SvJ-like sensitivity on the C57BL/6J Par2 locus and increased the in vivo mutation frequency in the lung, providing definitive proof that Polι causes the Par2 effect and inhibits tumorigenesis and mutagenesis, despite its extreme replication infidelity.", "output": {"entities": {"gene": [{"text": "Par2", "start": 85, "end": 89}], "disease": [{"text": "tumorigenesis", "start": 227, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "These results imply that the AT2 receptor negatively regulates the level of active TGF-beta and thus increases NNK-induced lung tumorigenesis.", "output": {"entities": {"gene": [{"text": "AT2", "start": 29, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "There are two known autosomal dominant genes for the hereditary ulcero-mutilating neuropathies: SPTLC1 (hereditary sensory neuropathy type 1) and RAB7 (Charcot-Marie-Tooth disease type 2B).", "output": {"entities": {"gene": [{"text": "RAB7", "start": 146, "end": 150}], "disease": [{"text": "Charcot-Marie-Tooth disease type 2B", "start": 152, "end": 187}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAB7", "start": 146, "end": 150}, "tail": {"text": "Charcot-Marie-Tooth disease type 2B", "start": 152, "end": 187}}]}}, "schema": []}
{"input": "The inter-scan variability and relation between NER (plaque) and gadolinium (assessed with inductively coupled plasma-mass spectrometry) were compared between inversion-recovery fast spin echo and fast spin echo.", "output": {"entities": {"gene": [{"text": "NER", "start": 48, "end": 51}], "disease": [{"text": "plaque", "start": 53, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "To study the retinal degeneration in an 11-year-old patient with Leber congenital amaurosis (LCA) caused by mutation in GUCY2D.", "output": {"entities": {"gene": [{"text": "GUCY2D", "start": 120, "end": 126}], "disease": [{"text": "retinal degeneration", "start": 13, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Moyamoya disease (MMD) is a cerebrovascular disease characterized by occlusive lesions in the circle of Willis.", "output": {"entities": {"gene": [{"text": "MMD", "start": 18, "end": 21}], "disease": [{"text": "cerebrovascular disease", "start": 28, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Dox was intraperitoneally injected to induce cardiomyopathy in wild type (WT) and PACAP knockout (ie, PACAP +/-and PACAP-/-) mice.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 82, "end": 87}], "disease": [{"text": "cardiomyopathy", "start": 45, "end": 59}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PACAP", "start": 82, "end": 87}, "tail": {"text": "cardiomyopathy", "start": 45, "end": 59}}]}}, "schema": []}
{"input": "In particular, CTSL was related to lymph node metastasis, CC was related to liver metastasis and omental metastasis, and CTSB and CTSL expression levels were found to be independent prognostic factors in ovarian cancer.", "output": {"entities": {"gene": [{"text": "CTSB", "start": 121, "end": 125}], "disease": [{"text": "liver metastasis", "start": 76, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The densitometric analysis of slot blots showed that the mean steady-state mRNA level of PTX3 was 3. 5-fold higher in the melancholic group as compared to that in normal controls and in nonmelancholic depressives (n = 8, all groups).", "output": {"entities": {"gene": [{"text": "PTX3", "start": 89, "end": 93}], "disease": [{"text": "melancholic", "start": 122, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTX3", "start": 89, "end": 93}, "tail": {"text": "melancholic", "start": 122, "end": 133}}]}}, "schema": []}
{"input": "Given the risk factor and histological similarities between coronary and calcific valvular heart disease (aortic stenosis [AS] and mitral annular calcification [MAC]), we postulated that apoE alleles might be associated with the development of these valvular lesions.", "output": {"entities": {"gene": [{"text": "MAC", "start": 161, "end": 164}], "disease": [{"text": "aortic stenosis", "start": 106, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Intra-amniotic infection upregulates neutrophil gelatinase-associated lipocalin (NGAL) expression at the maternal-fetal interface at term: implications for infection-related preterm birth.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 81, "end": 85}], "disease": [{"text": "preterm birth", "start": 174, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "In vitro, Wnt4 induced proliferation and inflammation in human epithelial cells (BEAS-2B) and normal primary human bronchial epithelial cells in a concentration-dependent manner.", "output": {"entities": {"gene": [{"text": "Wnt4", "start": 10, "end": 14}], "disease": [{"text": "inflammation", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c. 496T & gt; G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome.", "output": {"entities": {"gene": [{"text": "SMS", "start": 146, "end": 149}], "disease": [{"text": "Snyder-Robinson syndrome", "start": 37, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMS", "start": 146, "end": 149}, "tail": {"text": "Snyder-Robinson syndrome", "start": 37, "end": 61}}]}}, "schema": []}
{"input": "Among former smokers with lung cancer, multivariate analysis showed that, independent of pack-years, increasing smoking-free years raise the likelihood of EGFR mutation.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 155, "end": 159}], "disease": [{"text": "smoking", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Unlike complete or 50% loss, 80% loss of PU. 1 induced a precancerous state characterized by accumulation of an abnormal precursor pool retaining responsiveness to G-CSF with disruption of M-and GM-CSF pathways.", "output": {"entities": {"gene": [{"text": "PU. 1", "start": 41, "end": 46}], "disease": [{"text": "precancerous state", "start": 57, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Moreover, our data imply that alterations due to the C9ORF72 mutation resulting in TDP-43 accumulation and dysmetabolism as secondary downstream effects likely play a central role in the neurodegenerative process in C9ORF72 pathogenesis.", "output": {"entities": {"gene": [{"text": "C9ORF72", "start": 53, "end": 60}], "disease": [{"text": "secondary", "start": 124, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In the preestablished 3LL and B16 tumor models, vaccination with DC-based or LacZ-DC-based tumor RNA vaccines (2 X 10 (5) cells) could reduce pulmonary metastasis and extend survival of tumor-bearing mice, but was less effective than the Lptn-DC counterpart (with 60-80% mice surviving).", "output": {"entities": {"gene": [{"text": "Lptn", "start": 238, "end": 242}], "disease": [{"text": "pulmonary metastasis", "start": 142, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "In a patient with bilateral congenital ASOD including aniridia and aphakia, a complex chromosomal rearrangement, inv (2) (p22. 3q12. 1) t (2; 16) (q12. 1; q12. 2), was characterized at the molecular level, to identify candidate genes implicated in ASOD.", "output": {"entities": {"gene": [{"text": "p22", "start": 122, "end": 125}], "disease": [{"text": "aphakia", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) translocation, a chimeric DNA containing portions of the bcl-2 and the immunoglobulin heavy chain (IgH) genes, was amplified from four of 27 isolated HRS cells and two individual FL follicles.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 72, "end": 77}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Bioinformatics analysis revealed that increased levels of HIF-2α, ABCB5, OCT4, SOX2 and ZEB1 in different melanoma populations under hypoxia could be a result of significant down-regulation of miR-340-5p.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 79, "end": 83}], "disease": [{"text": "hypoxia", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "This study extends the spectrum of phenotypes associated with FIG4 mutations to include cortical malformation associated with seizures and psychiatric manifestations, in addition to the previously described Charcot-Marie-Tooth disease type 4J and Yunis-Varón syndrome.", "output": {"entities": {"gene": [{"text": "FIG4", "start": 62, "end": 66}], "disease": [{"text": "seizures", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "One case of der (21) duplication with ETV6/RUNX1 exhibited a novel MLL translocation variant t (6; 11) (p21. 1p23; q13q25), with translocation of 3' telomeric MLL and deletion of 5' centromeric MLL.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 43, "end": 48}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Based on these facts, a new hypothesis was suggested that EMT induces cancer stem cell generation and tumor progression in human thyroid cancer cells in vitro.", "output": {"entities": {"gene": [{"text": "EMT", "start": 58, "end": 61}], "disease": [{"text": "tumor progression", "start": 102, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We present the case of a 5-year-old girl who experienced back pain (day 1); on day 10, the pain had exacerbated and involuntary movements in the lower limbs occurred, and an MRI performed in her local hospital revealed a tumor lesion at the upper thoracic level.", "output": {"entities": {"gene": [{"text": "MRI", "start": 174, "end": 177}], "disease": [{"text": "back pain", "start": 57, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The cyclin E-cyclin-dependent kinase 2 (CDK2) complex accelerates entry into the S phase of the cell cycle and promotes polyploidy, which may contribute to genomic instability in cancer cells.", "output": {"entities": {"gene": [{"text": "CDK2", "start": 40, "end": 44}], "disease": [{"text": "polyploidy", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "ACTB and TB10 mRNAs were also decreased in bipolar disorder.", "output": {"entities": {"gene": [{"text": "ACTB", "start": 0, "end": 4}], "disease": [{"text": "bipolar disorder", "start": 43, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTB", "start": 0, "end": 4}, "tail": {"text": "bipolar disorder", "start": 43, "end": 59}}]}}, "schema": []}
{"input": "In summary, our data suggested that the hOGG1 Cys/Cys genotype may be a genetic susceptibility marker for NIHL in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "hOGG1", "start": 40, "end": 45}], "disease": [{"text": "NIHL", "start": 106, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hOGG1", "start": 40, "end": 45}, "tail": {"text": "NIHL", "start": 106, "end": 110}}]}}, "schema": []}
{"input": "Mutations in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS, FUS) have been identified in sporadic and familial forms of amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "FUS", "start": 66, "end": 69}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "These data establish an important biochemical function for CGI-58 in the lipolytic degradation of fat, implicating this lipolysis activator in the pathogenesis of CDS.", "output": {"entities": {"gene": [{"text": "CGI-58", "start": 59, "end": 65}], "disease": [{"text": "CDS", "start": 163, "end": 166}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CGI-58", "start": 59, "end": 65}, "tail": {"text": "CDS", "start": 163, "end": 166}}]}}, "schema": []}
{"input": "Milk fat globule--epidermal growth factor--factor VIII (MFGE8)/lactadherin promotes bladder tumor development.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 43, "end": 54}], "disease": [{"text": "bladder tumor", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Moreover, KLF5 insufficiency abolished the ability of bladder cancer cells to induce neovascularization in rabbit cornea.", "output": {"entities": {"gene": [{"text": "KLF5", "start": 10, "end": 14}], "disease": [{"text": "neovascularization", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Although this rearrangement involves 2 well-characterized transcription factors, TEL and AML1, the molecular pathways affected by the result of the translocation remain largely unknown.", "output": {"entities": {"gene": [{"text": "AML1", "start": 89, "end": 93}], "disease": [{"text": "translocation", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.", "output": {"entities": {"gene": [{"text": "protoporphyrinogen oxidase", "start": 29, "end": 55}], "disease": [{"text": "variegate porphyria", "start": 87, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "protoporphyrinogen oxidase", "start": 29, "end": 55}, "tail": {"text": "variegate porphyria", "start": 87, "end": 106}}]}}, "schema": []}
{"input": "Applying an endophenotype approach, we investigated a potential impact of the genes of the 5-HT3A and 5-HT3B subunits as well as the novel 5-HT3C, 5-HT3D, and 5-HT3E subunits on CPT performance in subjects with schizophrenia.", "output": {"entities": {"gene": [{"text": "5-HT3D", "start": 147, "end": 153}], "disease": [{"text": "schizophrenia", "start": 211, "end": 224}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT3D", "start": 147, "end": 153}, "tail": {"text": "schizophrenia", "start": 211, "end": 224}}]}}, "schema": []}
{"input": "We genotyped four microsatellite markers and nine single nucleotide polymorphism (SNP) markers within or near the PRKCZ gene in the UCL case-control sample of 600 bipolar disorder patients and up to 605 supernormal controls.", "output": {"entities": {"gene": [{"text": "PRKCZ", "start": 114, "end": 119}], "disease": [{"text": "bipolar disorder", "start": 163, "end": 179}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRKCZ", "start": 114, "end": 119}, "tail": {"text": "bipolar disorder", "start": 163, "end": 179}}]}}, "schema": []}
{"input": "Frequencies of NOS3 G894T, 4b/a and T (-786)--> C, AGT T704C and ACE ins/del polymorphisms were studied in 342 subjects: 120 with preeclampsia (PE), 104 with gestational hypertension and 118 normotensive pregnant women.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 15, "end": 19}], "disease": [{"text": "preeclampsia", "start": 130, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Here we show that 25% of AML patients down-regulate FLT3 expression on blasts in response to in vitro hypoxia (1% O2), which was independent of its mutational state.", "output": {"entities": {"gene": [{"text": "FLT3", "start": 52, "end": 56}], "disease": [{"text": "hypoxia", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We have retrospectively analyzed 837 random anonymized dried blood spot (DBS) samples from neonatal screening programs in Scandinavia for mutations in HFE, the candidate gene for hemochromatosis.", "output": {"entities": {"gene": [{"text": "HFE", "start": 151, "end": 154}], "disease": [{"text": "hemochromatosis", "start": 179, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HFE", "start": 151, "end": 154}, "tail": {"text": "hemochromatosis", "start": 179, "end": 194}}]}}, "schema": []}
{"input": "We found sequences homologous to retroviral pol genes in the cell-free cerebrospinal fluids (CSFs) of 10 of 35 (29%) individuals with recent-onset schizophrenia or schizoaffective disorder.", "output": {"entities": {"gene": [{"text": "pol", "start": 44, "end": 47}], "disease": [{"text": "schizophrenia", "start": 147, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pol", "start": 44, "end": 47}, "tail": {"text": "schizophrenia", "start": 147, "end": 160}}]}}, "schema": []}
{"input": "We found an increase in KIR2DS2 in lupus patients with vascular arterial events, but not in patients with vasculitis.", "output": {"entities": {"gene": [{"text": "KIR2DS2", "start": 24, "end": 31}], "disease": [{"text": "lupus", "start": 35, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The genes validated as critical for influenza virus replication were ADAMTS7, CPE, DPP3, MST1, and PRSS12, and pathway analysis showed these genes were in global host cell pathways governing inflammation (NF-κB), cAMP/calcium signaling (CRE/CREB), and apoptosis.", "output": {"entities": {"gene": [{"text": "ADAMTS7", "start": 69, "end": 76}], "disease": [{"text": "inflammation", "start": 191, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Transcript upregulation of anti-oxidative enzymes (Aldh1a1 and Nqo1), cell cycle-related molecules (Cdc20 and Cdkn2b) and inflammation-related molecules including proinflammatory cytokines (Ccl2, Col1a1, Il6, Nos2 and Serpine1) was also evident.", "output": {"entities": {"gene": [{"text": "Nqo1", "start": 63, "end": 67}], "disease": [{"text": "inflammation", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We analysed the GATA binding protein 4 gene, or GATA4, along with the NK2 transcription factor related, locus 5 gene, or NKX2. 5, to determine their genetic contribution to 104 sporadic patients in Indonesia with congenitally malformed hearts, 76 cases having atrial septal defect and 28 tetralogy of Fallot.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 121, "end": 128}], "disease": [{"text": "sporadic", "start": 177, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Patients with genotype C and/or GSTM1 deficiency developed carcinoma after less tobacco consumption than those of other genotypes though the difference was not statistically significant.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 32, "end": 37}], "disease": [{"text": "carcinoma", "start": 59, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "This study showed increased expression of the genes involved in pronociceptive inflammatory reactions in interstitial cystitis, including TRPV1, 2 and 4, ASIC1, NGF and CXCL9, and to our knowledge TRPM2 for the first time.", "output": {"entities": {"gene": [{"text": "TRPM2", "start": 197, "end": 202}], "disease": [{"text": "interstitial cystitis", "start": 105, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The authors used immunohistochemistry to examine the expression of NF-kappaB and the signaling molecules leading to NF-kappaB activation in 36 untreated biopsy specimens from patients with squamous cell carcinoma (SCC) and in 15 specimens from patients with epithelial dysplasia of the oral cavity.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 67, "end": 76}], "disease": [{"text": "epithelial dysplasia", "start": 258, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "The absence of a functional AURKC gene causes primary infertility in men by blocking the first meiotic division and leading to the production of tetraploid large-headed spermatozoa.", "output": {"entities": {"gene": [{"text": "AURKC gene", "start": 28, "end": 38}], "disease": [{"text": "primary infertility", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Using a human keratinocyte model of tumor progression, we have examined the regulation of gene expression and secretion of a parathyroid hormone-like peptide (PLP) that has been implicated in the pathogenesis of hypercalcemia in cancer.", "output": {"entities": {"gene": [{"text": "PLP", "start": 159, "end": 162}], "disease": [{"text": "tumor progression", "start": 36, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Our findings were: (1) Serum levels of OPG were raised in patients with unstable angina (n = 40), but not in those with stable angina (n = 40), comparing controls (n = 20); (2) mRNA levels of RANKL were increased in T-cells in unstable angina patients accompanied by increased expression of RANK in monocytes; (3) strong immunostaining of OPG/RANKL/RANK was seen within thrombus material obtained at the site of plaque rupture during acute myocardial infarction; (4) OPG/RANKL/RANK was expressed in the atherosclerotic plaques of apoE (-/-) mice, with RANKL located specifically to the plaques; and (5) RANKL enhanced the release of monocyte chemoattractant peptide-1 in mononuclear cells from unstable angina patients, and promoted matrix metalloproteinase (MMP) activity in vascular smooth muscle cells.", "output": {"entities": {"gene": [{"text": "OPG", "start": 39, "end": 42}], "disease": [{"text": "stable angina", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Peanut agglutinin staining revealed various abnormalities of acrosomes in Bscl2-/-late spermatids, including the absence, irregular-shaped, and fragmented acrosomes, indicating defective acrosome formation in Bscl2-/-late spermatids, which may affect late spermatid orientation in the seminiferous epithelium.", "output": {"entities": {"gene": [{"text": "Bscl2", "start": 74, "end": 79}], "disease": [{"text": "abnormalities", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "To data, epidemiological studies have assessed the association between peptidyl-propyl-cis/trans isomerase 1 (PIN1) gene polymorphisms and cancer risk, including breast cancer, hepatocellular carcinoma, lung cancer, esophageal cancer, head and neck squamous cell carcinoma, and laryngeal squamous cell cancer.", "output": {"entities": {"gene": [{"text": "PIN1", "start": 110, "end": 114}], "disease": [{"text": "hepatocellular carcinoma", "start": 177, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Analysis of the MSP-in-situ sections showed that the distribution of methylated cells in esophageal carcinoma differed from that in gastric carcinoma.", "output": {"entities": {"gene": [{"text": "MSP", "start": 16, "end": 19}], "disease": [{"text": "esophageal carcinoma", "start": 89, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In the wildtype cell line, ionizing radiation alone induced hypoxia-dependent VEGF-expression but a strong dominant counteracting effect of patupilone was always observed when ionizing radiation was combined with patupilone, on the level of HIF-1α protein stability, VEGF-expression and VEGF-secretion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 78, "end": 82}], "disease": [{"text": "hypoxia", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The presence (n = 1696) or absence (n = 703) of carotid atherosclerosis were sonographically assessed among participants of the population-based Study of Health in Pomerania (SHIP).", "output": {"entities": {"gene": [{"text": "SHIP", "start": 175, "end": 179}], "disease": [{"text": "carotid atherosclerosis", "start": 48, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Thus, after obtaining clinical information, screening for mutations in (1) parkin, (2) PINK1, (3) DJ-1, (4) ATP13A2 should be conducted in that order, in ARP and sporadic parkinsonism, based on their reported frequencies.", "output": {"entities": {"gene": [{"text": "ARP", "start": 154, "end": 157}], "disease": [{"text": "parkinsonism", "start": 171, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "CFH and FHL-1 may act in concert in the eye and the reduced surface binding may result in inappropriate local complement control, which in turn can lead to inflammation, disturbance of local physiological homeostasis and progression to cell damage.", "output": {"entities": {"gene": [{"text": "CFH", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 156, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Using endothelial progenitor cells (EPC) from healthy donors and HUVEC endothelial cells, the extent of EPC recruitment and capacity to form endothelial tubes was significantly impaired in conditioned media derived from MSC/glioma coculture, suggesting that MSC suppressed tumor angiogenesis through the release of antiangiogenic factors.", "output": {"entities": {"gene": [{"text": "MSC", "start": 220, "end": 223}], "disease": [{"text": "tumor angiogenesis", "start": 273, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "Induction in the lung of TGF-alpha caused progressive pulmonary fibrosis over an 8-wk period.", "output": {"entities": {"gene": [{"text": "TGF-alpha", "start": 25, "end": 34}], "disease": [{"text": "pulmonary fibrosis", "start": 54, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGF-alpha", "start": 25, "end": 34}, "tail": {"text": "pulmonary fibrosis", "start": 54, "end": 72}}]}}, "schema": []}
{"input": "Specifically, hypoxia induced the most robust increase in progenitor-like characteristics in U-CH1 cells, including increased expression of the notochord-associated markers T, CD24, FOXA1, ACAN and CA12, increased cell growth and tumour-sphere formation, and a decrease in the percentage of vacuolated cells present in the heterogeneous population.", "output": {"entities": {"gene": [{"text": "CA12", "start": 198, "end": 202}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "To test the a priori hypothesis that the frequency of a single-nucleotide polymorphism (SNP) located in the promoter region of the glutamate decarboxylase 2 (GAD2) gene (-243A--> G) would be overrepresented among children with higher body mass index (BMI) values.", "output": {"entities": {"gene": [{"text": "GAD2", "start": 158, "end": 162}], "disease": [{"text": "body mass index", "start": 234, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "The frequency of GM-CSF-producing T helper cells was significantly enriched in SF mononuclear cells compared to PB mononuclear cells from the patients with JIA (24. 1% of CD4 + T cells versus 2. 9%) and closely correlated with the erythrocyte sedimentation rate (r (2) = 0. 91, P < 0. 001).", "output": {"entities": {"gene": [{"text": "CD4", "start": 171, "end": 174}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 231, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "The 3'-UTR contains a polymorphic AGG repeat that appears not to be expanded in patients suffering from different neurodegenerative disorders.", "output": {"entities": {"gene": [{"text": "UTR", "start": 7, "end": 10}], "disease": [{"text": "neurodegenerative disorders", "start": 114, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These findings support a role for hypoxia and oestrogen induced VEGF-D in human breast cancer and also suggest that tamoxifen and related oestrogen antagonists may exert some of their antitumour effects through the abrogation of VEGF-D induced function.", "output": {"entities": {"gene": [{"text": "VEGF-D", "start": 64, "end": 70}], "disease": [{"text": "hypoxia", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "XLSA is due to mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.", "output": {"entities": {"gene": [{"text": "ALAS2", "start": 79, "end": 84}], "disease": [{"text": "XLSA", "start": 0, "end": 4}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALAS2", "start": 79, "end": 84}, "tail": {"text": "XLSA", "start": 0, "end": 4}}]}}, "schema": []}
{"input": "Involvement of NMDAR2A tyrosine phosphorylation in depression-related behaviour.", "output": {"entities": {"gene": [{"text": "NMDAR2A", "start": 15, "end": 22}], "disease": [{"text": "depression", "start": 51, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NMDAR2A", "start": 15, "end": 22}, "tail": {"text": "depression", "start": 51, "end": 61}}]}}, "schema": []}
{"input": "Applying the statistical GISTIC (Genomic Identification of Significant Targets in Cancer) tool we identified potential novel candidate tumor suppressor-(DBC1, FHIT, PPP2R2A) and oncogenes (LYN, FGF19, GRB7, PTPN1) within these regions of chromosomal instability.", "output": {"entities": {"gene": [{"text": "PTPN1", "start": 207, "end": 212}], "disease": [{"text": "chromosomal instability", "start": 238, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Chemical hypoxia facilitates alternative splicing of EAAT2 in presymptomatic APP23 transgenic mice.", "output": {"entities": {"gene": [{"text": "EAAT2", "start": 53, "end": 58}], "disease": [{"text": "hypoxia", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "In human aorta, PTOV1 immunoreactivity in the nuclei of neointimal VSMCs was abundantly detected in male aorta with mild atherosclerotic changes compared with female aorta or male aorta with severe atherosclerotic changes.", "output": {"entities": {"gene": [{"text": "PTOV1", "start": 16, "end": 21}], "disease": [{"text": "mild", "start": 116, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We report a novel heterozygous 3 bp deletion mutation (388del3) in K16 in a sporadic case of PC-1.", "output": {"entities": {"gene": [{"text": "PC-1", "start": 93, "end": 97}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Results were validated by means of Southern blot hybridization (detection of N-myc amplification), loss of heterozygosity (LOH) studies (detection of deletion 1p), and interphase cytogenetics [dual labelling fluorescence in situ hybridization (FISH) of centromeric 17 and erbB-2].", "output": {"entities": {"gene": [{"text": "FISH", "start": 244, "end": 248}], "disease": [{"text": "deletion 1p", "start": 150, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Paternal origin of GNAS mutations was clearly demonstrated in eight POH cases including one patient with mutation in exon 1.", "output": {"entities": {"gene": [{"text": "GNAS", "start": 19, "end": 23}], "disease": [{"text": "POH", "start": 68, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAS", "start": 19, "end": 23}, "tail": {"text": "POH", "start": 68, "end": 71}}]}}, "schema": []}
{"input": "To compare the levels of NKCC1, KCC2, OXSR1, STK39, WNK1, WNK3, and WNK4 transcripts in prefrontal cortex area 9 between subjects with schizophrenia and healthy comparison subjects.", "output": {"entities": {"gene": [{"text": "OXSR1", "start": 38, "end": 43}], "disease": [{"text": "schizophrenia", "start": 135, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OXSR1", "start": 38, "end": 43}, "tail": {"text": "schizophrenia", "start": 135, "end": 148}}]}}, "schema": []}
{"input": "Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the congenital heart defect, autistic behavior and mental retardation (CAV3, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features.", "output": {"entities": {"gene": [{"text": "CAV3", "start": 201, "end": 205}], "disease": [{"text": "congenital heart defect", "start": 134, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAV3", "start": 201, "end": 205}, "tail": {"text": "congenital heart defect", "start": 134, "end": 157}}]}}, "schema": []}
{"input": "No aberrant methylation of Dapk1 or Mlt1 was detected in the neoplasms, but normal colon mucosa samples displayed methylation of these genes.", "output": {"entities": {"gene": [{"text": "Mlt1", "start": 36, "end": 40}], "disease": [{"text": "neoplasms", "start": 61, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Our findings are consistent with an involvement of E-selectin, \" in vivo, \" in the pathogenesis of SAO shock.", "output": {"entities": {"gene": [{"text": "E-selectin", "start": 51, "end": 61}], "disease": [{"text": "shock", "start": 103, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.", "output": {"entities": {"gene": [{"text": "RNF43", "start": 14, "end": 19}], "disease": [{"text": "serrated polyposis", "start": 61, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RNF43", "start": 14, "end": 19}, "tail": {"text": "serrated polyposis", "start": 61, "end": 79}}]}}, "schema": []}
{"input": "Sections stained for CD8, MHC-I, beta (2) m, HFE and CD68 were analyzed blind by morphometry.", "output": {"entities": {"gene": [{"text": "CD8", "start": 21, "end": 24}], "disease": [{"text": "blind", "start": 72, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Several candidate genes for schizophrenia may also be associated with bipolar disorder: G72, DISC1, NRG1, RGS4, NCAM1, DAO, GRM3, GRM4, GRIN2B, MLC1, SYNGR1, and SLC12A6.", "output": {"entities": {"gene": [{"text": "GRM4", "start": 130, "end": 134}], "disease": [{"text": "bipolar disorder", "start": 70, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRM4", "start": 130, "end": 134}, "tail": {"text": "bipolar disorder", "start": 70, "end": 86}}]}}, "schema": []}
{"input": "Mutations of the cyclin-dependent kinase inhibitor genes also occur in esophageal and gastric cancers.", "output": {"entities": {"gene": [{"text": "cyclin-dependent kinase inhibitor", "start": 17, "end": 50}], "disease": [{"text": "esophageal", "start": 71, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "VEGF mRNA is controlled by growth factors and hypoxia via the transcription factor hypoxia-inducible factor (HIF-1alpha).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The TNF-alpha-producing potential of ascites cells by in vitro OK-432 stimulation was dependent on the existence of a CD11c + TLR-4 + cell population in ascites cells.", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 126, "end": 131}], "disease": [{"text": "ascites", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "In addition, several of the ZNFs mapped to regions implicated in recurrent chromosomal rearrangements in hematological malignancies (ZNF139, 7q21. 3-q22. 1; ZNF148, 3q21-q22; ZNF151, 1p36. 1-p36. 2).", "output": {"entities": {"gene": [{"text": "ZNF148", "start": 157, "end": 163}], "disease": [{"text": "hematological malignancies", "start": 105, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4).", "output": {"entities": {"gene": [{"text": "OCA2", "start": 64, "end": 68}], "disease": [{"text": "OCA-2", "start": 70, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCA2", "start": 64, "end": 68}, "tail": {"text": "OCA-2", "start": 70, "end": 75}}]}}, "schema": []}
{"input": "Moreover, multifactor dimensionality reduction showed significant epistatic interactions for the postprandial decrease in hunger involving rs9939609 (FTO), rs992472 (DNMT3B), and rs1137101 (LEPR).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 190, "end": 194}], "disease": [{"text": "hunger", "start": 122, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "As the CSF1 translocation is postulated to play an important role in the biology of PVNS/TGCT, the consistent presence of CSF1 expression in translocation-negative cases implies that other mechanisms can lead to CSF1 up-regulation.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 7, "end": 11}], "disease": [{"text": "translocation", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Our study defines a new autism-related syndrome and highlights the functional role of CSDE1 in synapse development and synaptic transmission.", "output": {"entities": {"gene": [{"text": "CSDE1", "start": 86, "end": 91}], "disease": [{"text": "autism", "start": 24, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CSDE1", "start": 86, "end": 91}, "tail": {"text": "autism", "start": 24, "end": 30}}]}}, "schema": []}
{"input": "DNA cytometry revealed that nuclei-overexpressing securin frequently showed tetraploidy or aneuploidy.", "output": {"entities": {"gene": [{"text": "securin", "start": 50, "end": 57}], "disease": [{"text": "aneuploidy", "start": 91, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Seventy patients having non-syndromic forms of colobomatous microphthalmia (n = 25), isolated microphthalmia (n = 18), or anophthalmia (n = 17), and syndromic forms of micro/anophthalmia (n = 10) were included in this study after negative molecular screening for OTX2, RAX, SOX2, and CHX10 mutations.", "output": {"entities": {"gene": [{"text": "RAX", "start": 269, "end": 272}], "disease": [{"text": "colobomatous microphthalmia", "start": 47, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.", "output": {"entities": {"gene": [{"text": "TTC25", "start": 0, "end": 5}], "disease": [{"text": "Primary Ciliary Dyskinesia", "start": 82, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTC25", "start": 0, "end": 5}, "tail": {"text": "Primary Ciliary Dyskinesia", "start": 82, "end": 108}}]}}, "schema": []}
{"input": "To assess if MIF alleles influence the clinical course of infection, we conducted a case-control study to assess susceptibility and a parallel inception cohort study of community-acquired pneumonia (CAP) to assess risk of severe sepsis and 90-d mortality.", "output": {"entities": {"gene": [{"text": "MIF", "start": 13, "end": 16}], "disease": [{"text": "severe sepsis", "start": 222, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "The Sialyl-Tn antigen (Neu5Acα2-6GalNAc-O-Ser/Thr) synthesized by Siat7A also increased in the AC16 cardiomyocytes following hypoxic stimulus.", "output": {"entities": {"gene": [{"text": "Siat7A", "start": 66, "end": 72}], "disease": [{"text": "hypoxic", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Ongoing whole-genome association studies in bipolar disorder and major depression should further clarify the role of FKBP5 and other HPA genes in these illnesses.", "output": {"entities": {"gene": [{"text": "HPA", "start": 133, "end": 136}], "disease": [{"text": "major depression", "start": 65, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HPA", "start": 133, "end": 136}, "tail": {"text": "major depression", "start": 65, "end": 81}}]}}, "schema": []}
{"input": "We observed stronger association between CD105-MVD and VEGF expression, fibrosis, and JAK2-V617F mutant allele burden, compared to CD34-MVD.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 86, "end": 90}], "disease": [{"text": "fibrosis", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D, L-2-Hydroxyglutaric Aciduria.", "output": {"entities": {"gene": [{"text": "SLC25A1", "start": 66, "end": 73}], "disease": [{"text": "L-2-Hydroxyglutaric Aciduria", "start": 164, "end": 192}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC25A1", "start": 66, "end": 73}, "tail": {"text": "L-2-Hydroxyglutaric Aciduria", "start": 164, "end": 192}}]}}, "schema": []}
{"input": "The most common translocation in non-Hodgkin lymphomas (NHL) is a t (14; 18) (q32; q21) recombining the immunoglobulin heavy-chain gene (IGH) on chromosome 14 with the B cell leukemia/lymphoma 2 (BCL2) gene on chromosome 18.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 196, "end": 200}], "disease": [{"text": "translocation", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "The significant and complex effects of co-occurring ERAP1 polymorphisms on multiple HLA-B27 ligands, and their potential to alter the immunological and pathogenetic features of HLA-B27 as a function of the ERAP1 context, explain the epistatic association of both molecules in ankylosing spondylitis.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 52, "end": 57}], "disease": [{"text": "spondylitis", "start": 287, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "The region including the GSDMA and GSDMB polymorphisms may be associated with asthma susceptibility and intermediate phenotypes of asthma, such as elevated IgE and BHR, in Korean children with asthma.", "output": {"entities": {"gene": [{"text": "GSDMB", "start": 35, "end": 40}], "disease": [{"text": "asthma susceptibility", "start": 78, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We observed positive Kv10. 1 expression in 85. 3% of the brain metastases and in 77. 5% of GBMs.", "output": {"entities": {"gene": [{"text": "Kv10. 1", "start": 21, "end": 28}], "disease": [{"text": "brain metastases", "start": 57, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Receptor tyrosine kinase inhibitors and cytotoxic drugs affect pleural mesothelioma cell proliferation: insight into EGFR and ERK1/2 as antitumor targets.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 117, "end": 121}], "disease": [{"text": "mesothelioma", "start": 71, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGFR", "start": 117, "end": 121}, "tail": {"text": "mesothelioma", "start": 71, "end": 83}}]}}, "schema": []}
{"input": "Sensitization of human renal cell carcinoma cells to cis-diamminedichloroplatinum (II) by anti-interleukin 6 monoclonal antibody or anti-interleukin 6 receptor monoclonal antibody.", "output": {"entities": {"gene": [{"text": "interleukin 6 receptor", "start": 137, "end": 159}], "disease": [{"text": "renal cell carcinoma", "start": 23, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin 6 receptor", "start": 137, "end": 159}, "tail": {"text": "renal cell carcinoma", "start": 23, "end": 43}}]}}, "schema": []}
{"input": "Similarly, mutations in the BTB/POZ domain disrupt the high-molecular-weight complex, abolishing the leukemic potential of PLZF/RARα.", "output": {"entities": {"gene": [{"text": "PLZF", "start": 123, "end": 127}], "disease": [{"text": "weight", "start": 70, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "To examine whether genetic variation of the GPR10 locus might be associated with phenotypes relevant to obesity and/or blood pressure, the most common noncoding (G-62A) and coding (C914T [P305L]) polymorphisms were typed in 1, 084 U. K. Caucasians.", "output": {"entities": {"gene": [{"text": "GPR10", "start": 44, "end": 49}], "disease": [{"text": "blood pressure", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 62, "end": 80}], "disease": [{"text": "familial chylomicronemia", "start": 88, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 62, "end": 80}, "tail": {"text": "familial chylomicronemia", "start": 88, "end": 112}}]}}, "schema": []}
{"input": "Most birth weight--risk factor relationships were stronger in the VC subjects; among others the birth weight--systolic blood pressure relationship: 1 kg lower birth weight was related to an 8. 0 mmHg higher systolic blood pressure The polymorphism in the promoter region of the IGF-I gene is related to birth weight in men only, and to LDL concentration only.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 278, "end": 283}], "disease": [{"text": "birth weight", "start": 5, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Bioinformatic analysis coupled miR-210 to hypoxia/VEGF signaling, miR-7 and miR-516-3p to cell cycle progression and chromosomal instability, and miR-128a to cytokine signaling.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 66, "end": 71}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Paracrine modulation of CXCR4 by IGF-1 and VEGF: implications for choroidal neovascularization.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 24, "end": 29}], "disease": [{"text": "choroidal neovascularization", "start": 66, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In this study were aimed to identify the association of SNPs candidate genes of TNF-α and IL-6 with hormones levels and sperm cells death in infertile subjects of Uttar Pradesh population in North India.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 90, "end": 94}], "disease": [{"text": "infertile", "start": 141, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of MAT1 was observed in 87. 5% (6/7) of lymph nodes with metastasis but only 23% (3/13) of lymph nodes without metastasis (P = 0. 0118).", "output": {"entities": {"gene": [{"text": "MAT1", "start": 18, "end": 22}], "disease": [{"text": "metastasis", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We enrolled 184 hepatitis C-infected patients with chronic liver diseases or HCC, 57 healthy subjects and 27 HCC patients with other etiology.", "output": {"entities": {"gene": [{"text": "HCC", "start": 77, "end": 80}], "disease": [{"text": "liver diseases", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The role of p63 in tumorigenesis remains poorly defined.", "output": {"entities": {"gene": [{"text": "p63", "start": 12, "end": 15}], "disease": [{"text": "tumorigenesis", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "In diabetic patients, GIP is expected to have a direct anti-inflammatory effect on periodontitis in addition to its glucose-lowering effect.", "output": {"entities": {"gene": [{"text": "GIP", "start": 22, "end": 25}], "disease": [{"text": "periodontitis", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The septohippocampal cholinergic system has been pointed out as a possible site of SCP and DZP-induced amnesia as well as for the mnemonic effects induced by SP and ChCl.", "output": {"entities": {"gene": [{"text": "SP", "start": 158, "end": 160}], "disease": [{"text": "amnesia", "start": 103, "end": 110}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SP", "start": 158, "end": 160}, "tail": {"text": "amnesia", "start": 103, "end": 110}}]}}, "schema": []}
{"input": "Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.", "output": {"entities": {"gene": [{"text": "DLL3", "start": 40, "end": 44}], "disease": [{"text": "spondylocostal dysostosis", "start": 78, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DLL3", "start": 40, "end": 44}, "tail": {"text": "spondylocostal dysostosis", "start": 78, "end": 103}}]}}, "schema": []}
{"input": "In conclusion, thyroid hormone improves and accelerates peripheral nerve regeneration and exerts a positive effect on cytoskeletal protein expression and transport involved in axonal regeneration.", "output": {"entities": {"gene": [{"text": "cytoskeletal protein", "start": 118, "end": 138}], "disease": [{"text": "axonal regeneration", "start": 176, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "In the deep cortical layers of BA 46, Nurr1 mRNA was significantly (P & lt; 0. 05) lower in patients with bipolar disorder and schizophrenia than in the controls.", "output": {"entities": {"gene": [{"text": "BA 46", "start": 31, "end": 36}], "disease": [{"text": "bipolar disorder", "start": 106, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BA 46", "start": 31, "end": 36}, "tail": {"text": "bipolar disorder", "start": 106, "end": 122}}]}}, "schema": []}
{"input": "Moreover, the proliferating cell nuclear antigen mRNA level might be predictive of nodal regression.", "output": {"entities": {"gene": [{"text": "proliferating cell nuclear antigen", "start": 14, "end": 48}], "disease": [{"text": "regression", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "siRNA targeted for NBS1 enhances heat sensitivity in human anaplastic thyroid carcinoma cells.", "output": {"entities": {"gene": [{"text": "NBS1", "start": 19, "end": 23}], "disease": [{"text": "anaplastic thyroid carcinoma", "start": 59, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In summary, our data indicate that the transcription factor FoxP1 is essential for the angiogenic function of endothelial cells and functions as a suppressor of the inhibitory guidance cue semaphorin 5B, suggesting an important function of FoxP1 in the regulation of neovascularization.", "output": {"entities": {"gene": [{"text": "semaphorin 5B", "start": 189, "end": 202}], "disease": [{"text": "neovascularization", "start": 267, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "From molecular and biological analyses, we found microsatellite instability in 30. 8% of endometrial cancers and germline mutations of MMR genes in 8. 3%.", "output": {"entities": {"gene": [{"text": "MMR", "start": 135, "end": 138}], "disease": [{"text": "microsatellite instability", "start": 49, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Since CEA content and mRNA expression were no different between smokers with non-small cell lung cancer and those with non-carcinomatous disease, it is unlikely that CEA expression in non-carcinomatous lung parenchymal tissue was influenced by the presence of the tumour and is consistent with the effect of smoking.", "output": {"entities": {"gene": [{"text": "CEA", "start": 6, "end": 9}], "disease": [{"text": "smoking", "start": 308, "end": 315}]}, "relations": {}}, "schema": []}
{"input": "Conversely, inhibiting sphingosine lyase rescues the defects in keratinocyte differentiation, E-cadherin localization, desmoplakin (DP) translocation, and ER Ca (2 +) sequestration seen in TG-treated keratinocytes.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 94, "end": 104}], "disease": [{"text": "translocation", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "CD4 (+) T cells that lead to autoimmune gastritis (AIG) in BALB/c mice are either Th1 or Th2 cells.", "output": {"entities": {"gene": [{"text": "Th1", "start": 82, "end": 85}], "disease": [{"text": "autoimmune gastritis", "start": 29, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "This polymorphism was investigated in two types of studies: (1) the association study in a whole group of alcoholics (116 patients fulfilling ICD-10 alcohol dependence (AD) criteria and 255 controls, Polish descent) and homogenous overlapping subgroups of patients with: a history of delirium tremens and/or alcohol seizures, early age of onset of alcoholism (AOO < 26 years), a co-occurrence of dissocial personality disorder, a history of familial alcoholism; (2) the family-based study (using Transmission Disequilibrium Test (TDT) in 100 Polish families with alcohol dependence).", "output": {"entities": {"gene": [{"text": "TDT", "start": 530, "end": 533}], "disease": [{"text": "dissocial personality disorder", "start": 396, "end": 426}]}, "relations": {}}, "schema": []}
{"input": "Since both Ang-1/Tie2 and VEGF promote angiogenesis and vascular survival, and play protective roles in the adaptation of microvascular changes during the onset of PH, the downregulation of both Ang-1/Tie2 and VEGF and upregulation of Ang-3 appear to be associated with vascular rarefaction and the development of hypoxic PH.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 26, "end": 30}], "disease": [{"text": "hypoxic", "start": 314, "end": 321}]}, "relations": {}}, "schema": []}
{"input": "Immunoprecipitation assays confirmed biochemical binding of Ndfip1 with Nedd4-2 in the brain, with or without ischemic stroke, indicating their endogenous interaction.", "output": {"entities": {"gene": [{"text": "Nedd4-2", "start": 72, "end": 79}], "disease": [{"text": "ischemic stroke", "start": 110, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "HS1, 2-A allele frequencies were investigated in 37 DH, 61 plaque psoriatic, 28 psoriatic arthritis patients, and 265 healthy donors, age-and sex-matched, from the same geographical area.", "output": {"entities": {"gene": [{"text": "HS1", "start": 0, "end": 3}], "disease": [{"text": "psoriatic arthritis", "start": 80, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Common genetic polymorphisms in the drug target (norepinephrine transporter protein 1, SLC6A2) and mechanism pathway (NMDA receptor channel NR1 subunit, GRIN1) were associated with increased weight loss following GW320659 treatment in a proportion (36%) of the study population.", "output": {"entities": {"gene": [{"text": "SLC6A2", "start": 87, "end": 93}], "disease": [{"text": "increased weight", "start": 181, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "CAD is associated with reduced vascular responses to both VEGF and HGF; this is not likely due to a reduced expression of VEGF or flt-1 or flk-1 receptors and not due to a generalized endothelium dysfunction despite the presence of mild hypercholesterolemia in these patients with CAD.", "output": {"entities": {"gene": [{"text": "HGF", "start": 67, "end": 70}], "disease": [{"text": "hypercholesterolemia", "start": 237, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "In males, GGN repeats, considered independently of the CAG repeat, have no significant effect on the acne risk; however, when combined with CAG repeats, the acne patients exhibited significantly higher frequency of the haplotypes CAG < 23/GGN < or = 23 (OR, 3. 33; 95% CI, 1. 10-10. 07; P < 0. 05) compared with the controls.", "output": {"entities": {"gene": [{"text": "GGN", "start": 10, "end": 13}], "disease": [{"text": "acne", "start": 101, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Mitochondrial activation by TFAM, NRF-1, and myr-AKT abrogated MPP (+)-mediated damages on mitochondria and insulin signaling, leading to recovery of nigrostriatal neurodegeneration.", "output": {"entities": {"gene": [{"text": "NRF", "start": 34, "end": 37}], "disease": [{"text": "neurodegeneration", "start": 164, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "An autosomal-dominantly form of frontotemporal dementia and parkinsonism linked to chromosome 17q21. 2 (FTDP-17) was defined in 1996.", "output": {"entities": {"gene": [{"text": "FTDP-17", "start": 104, "end": 111}], "disease": [{"text": "frontotemporal dementia", "start": 32, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FTDP-17", "start": 104, "end": 111}, "tail": {"text": "frontotemporal dementia", "start": 32, "end": 55}}]}}, "schema": []}
{"input": "Preoperative levels of CA125, PLT, CRP, and fibrinogen were dichotomized according to the common cutoff values (CA125, 35 U/ml; PLT, 350/nl; CRP, 5. 0 mg/l; fibrinogen, 400 mg/dl), resulting in \" 1 \" for results above the cutoff and \" 0 \" for results within the normal ranges.", "output": {"entities": {"gene": [{"text": "CA125", "start": 23, "end": 28}], "disease": [{"text": "fibrinogen", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "A case-control study of idiopathic osteonecrosis of femoral head (ION) was carried out to investigate the association between workload intensity, smoking, drinking, ADH2 and ALDH2 genotype and other factors and development of ION by comparing 43 cases (34 males and 9 females) without history of systemic corticosteroid use with 86 matched controls (68 males and 18 females).", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 174, "end": 179}], "disease": [{"text": "smoking", "start": 146, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.", "output": {"entities": {"gene": [{"text": "PLP", "start": 85, "end": 88}], "disease": [{"text": "Pelizaeus-Merzbacher disease", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLP", "start": 85, "end": 88}, "tail": {"text": "Pelizaeus-Merzbacher disease", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "Since 30. 6% (11/36) of Taiwanese moyamoya patients carry an RNF213 mutation and intracranial arterial stenosis was found in half of the asymptomatic mutant carriers, it is suggested that the RNF213 mutation should form part of the diagnostic workup for MMD in clinical practice.", "output": {"entities": {"gene": [{"text": "RNF213", "start": 61, "end": 67}], "disease": [{"text": "asymptomatic", "start": 137, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, individuals with cCSNB can show other ocular features such as nystagmus, myopia, and strabismus and can have reduced visual acuity and abnormalities of the cone ERG waveform.", "output": {"entities": {"gene": [{"text": "ERG", "start": 174, "end": 177}], "disease": [{"text": "abnormalities", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Although a direct association was not observed between HSP70-2 polymorphism and prevalence of intestinal metaplasia, a significant association was found between the BB genotype and lower metaplasia score in individuals who were Helicobacter pylori (H. pylori) positive and aged 60 years or older (BB vs. A carriers; 0. 84 +/-0. 95 vs. 1. 23 +/-1. 01, p = 0. 0197).", "output": {"entities": {"gene": [{"text": "HSP70-2", "start": 55, "end": 62}], "disease": [{"text": "metaplasia", "start": 105, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "This article will focus on BMPs' effects on bone anabolism and propose a potential network of the bone mass mediators BMPs, PTH, and SOST.", "output": {"entities": {"gene": [{"text": "PTH", "start": 124, "end": 127}], "disease": [{"text": "bone mass", "start": 98, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Following tumor cell inoculation via the left cardiac ventricle, Gli2-expressing tumors caused significantly more osteolysis.", "output": {"entities": {"gene": [{"text": "Gli2", "start": 65, "end": 69}], "disease": [{"text": "osteolysis", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "To quantify and functionally characterize the intramyocardial T-cells in endomyocardial biopsies (EMBs) from patients presenting with acute myocarditis (AMC) and dilated cardiomyopathy (DCM).", "output": {"entities": {"gene": [{"text": "AMC", "start": 153, "end": 156}], "disease": [{"text": "acute myocarditis", "start": 134, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.", "output": {"entities": {"gene": [{"text": "lysosomal alpha-mannosidase", "start": 46, "end": 73}], "disease": [{"text": "alpha-Mannosidosis", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lysosomal alpha-mannosidase", "start": 46, "end": 73}, "tail": {"text": "alpha-Mannosidosis", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "Using immunoselection, we have isolated 11 independent mutant HT1080 fibrosarcoma cell lines defective in the induction by interferon gamma (IFN-gamma) of the expression of the human leukocyte antigen HLA-DRA.", "output": {"entities": {"gene": [{"text": "HLA-DRA", "start": 201, "end": 208}], "disease": [{"text": "fibrosarcoma", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The present case control study suggests no association of GSTM1 and GSTT1 gene deletions with sporadic form of breast cancer in Pakistani population.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 58, "end": 63}], "disease": [{"text": "sporadic", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Hematological indices, inflammatory markers and neutrophil CD64 expression: comparative trends during experimental human endotoxemia.", "output": {"entities": {"gene": [{"text": "CD64", "start": 59, "end": 63}], "disease": [{"text": "endotoxemia", "start": 121, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Using this system, we found a new mutation of the PrP gene in a patient with pathologically confirmed Creutzfeldt-Jakob disease and a negative family history for dementia.", "output": {"entities": {"gene": [{"text": "PrP", "start": 50, "end": 53}], "disease": [{"text": "Creutzfeldt-Jakob disease", "start": 102, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PrP", "start": 50, "end": 53}, "tail": {"text": "Creutzfeldt-Jakob disease", "start": 102, "end": 127}}]}}, "schema": []}
{"input": "Neurodegeneration in mice resulting from loss of functional selenoprotein P or its receptor apolipoprotein E receptor 2.", "output": {"entities": {"gene": [{"text": "apolipoprotein E receptor 2", "start": 92, "end": 119}], "disease": [{"text": "Neurodegeneration", "start": 0, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "apolipoprotein E receptor 2", "start": 92, "end": 119}, "tail": {"text": "Neurodegeneration", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "Collectively, our findings reveal that TRPM7 dysfunction may cause macrothrombocytopenia in humans and mice.", "output": {"entities": {"gene": [{"text": "TRPM7", "start": 39, "end": 44}], "disease": [{"text": "macrothrombocytopenia", "start": 67, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPM7", "start": 39, "end": 44}, "tail": {"text": "macrothrombocytopenia", "start": 67, "end": 88}}]}}, "schema": []}
{"input": "Two synonymous SNPs, one in the FTO gene (-28T > C in the 5'-flanking region) and one in the INSIG2 (10175C > T in intron 2), were used for the association studies in red foxes (n = 390) and suggestive evidence was observed for their association with body weight (FTO, p < 0. 08) and weight of raw skin (INSIG2, p < 0. 05).", "output": {"entities": {"gene": [{"text": "INSIG2", "start": 93, "end": 99}], "disease": [{"text": "weight", "start": 256, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "We previously reported that high expression levels of the channel-kinase TRPM7, a protein that maintains the progenitor state of embryonic neural crest cells, are closely associated with progenitor-like features of tumor cells, accompanied by extensive cytoskeletal reorganization and adhesion remodeling.", "output": {"entities": {"gene": [{"text": "TRPM7", "start": 73, "end": 78}], "disease": [{"text": "adhesion", "start": 285, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.", "output": {"entities": {"gene": [{"text": "desmoglein 1", "start": 17, "end": 29}], "disease": [{"text": "striate palmoplantar keratoderma", "start": 67, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "desmoglein 1", "start": 17, "end": 29}, "tail": {"text": "striate palmoplantar keratoderma", "start": 67, "end": 99}}]}}, "schema": []}
{"input": "To investigate in vivo inner and outer retinal microstructure and effects of structural abnormalities on visual function in patients with retinal degeneration caused by ABCA4 mutations (ABCA4-RD).", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 169, "end": 174}], "disease": [{"text": "abnormalities", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Inherited change in SOD3 expression or function could affect lung matrix homeostasis and influence pulmonary function.", "output": {"entities": {"gene": [{"text": "SOD3", "start": 20, "end": 24}], "disease": [{"text": "pulmonary function", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Compared with control subjects, cells from patients with COPD demonstrated increased mRNA expression of genes involved in oxidative stress and the response to viral infection, including NOX1, DUOXA2, MMP12, ICAM1, DDX58/RIG-I, STAT1, and STAT2.", "output": {"entities": {"gene": [{"text": "MMP12", "start": 200, "end": 205}], "disease": [{"text": "viral infection", "start": 159, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.", "output": {"entities": {"gene": [{"text": "HMGCL", "start": 10, "end": 15}], "disease": [{"text": "3-hydroxy-3-methyl-glutaric aciduria", "start": 66, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HMGCL", "start": 10, "end": 15}, "tail": {"text": "3-hydroxy-3-methyl-glutaric aciduria", "start": 66, "end": 102}}]}}, "schema": []}
{"input": "Intriguingly, pancreatic cancer cell lines expressed the potential CCL18 receptors PITPNM3, CCR6 and GPR3.", "output": {"entities": {"gene": [{"text": "PITPNM3", "start": 83, "end": 90}], "disease": [{"text": "pancreatic cancer", "start": 14, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Clinical variables associated with ecotropic viral integration site 1 (EVI1) translocations were evaluated in 42 consecutive chronic myeloid leukemia (CML) patients in myeloid blast crisis (MBC).", "output": {"entities": {"gene": [{"text": "viral integration site 1", "start": 45, "end": 69}], "disease": [{"text": "blast crisis", "start": 176, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "However, a 140-kD thermolysin TSP fragment, containing the carboxy-terminal cell-binding domain in addition to the type 1, 2, and 3 repeats fully supported the adhesion of SS-RBCs (126% +/-25% adhesion).", "output": {"entities": {"gene": [{"text": "TSP", "start": 30, "end": 33}], "disease": [{"text": "adhesion", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The extracellular BDNF scavenger TrkB-Fc prevented dendritic overgrowth in wt MECP2-overexpressing neurons, while overexpression of the Bdnf gene reverted the dendritic atrophy caused by Mecp2-knockdown.", "output": {"entities": {"gene": [{"text": "Mecp2", "start": 187, "end": 192}], "disease": [{"text": "atrophy", "start": 169, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "MVs contributed to genomic instability by two distinct pathways: via consequent overexpression of activation-induced cytidine deaminase and reactive oxygen species, which mediated DNA breakage and recombination; and via upregulation of methyltransferases and global DNA hypermethylation.", "output": {"entities": {"gene": [{"text": "activation-induced cytidine deaminase", "start": 98, "end": 135}], "disease": [{"text": "genomic instability", "start": 19, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "We previously demonstrated that angiopoietin-like protein 2 (Angptl2), a pro-inflammatory factor secreted by adipose tissue, promotes adipose tissue inflammation and subsequent systemic insulin resistance in obesity.", "output": {"entities": {"gene": [{"text": "Angptl2", "start": 61, "end": 68}], "disease": [{"text": "inflammation", "start": 149, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We also examined the effect of Fgf21 gene deletion or supplementation of the exogenous FGF21 on the testicular apoptotic cell death spontaneously or induced by type 1 diabetes in FGF21 knockout (FGF21-KO) mice.", "output": {"entities": {"gene": [{"text": "Fgf21", "start": 31, "end": 36}], "disease": [{"text": "type 1 diabetes", "start": 160, "end": 175}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Fgf21", "start": 31, "end": 36}, "tail": {"text": "type 1 diabetes", "start": 160, "end": 175}}]}}, "schema": []}
{"input": "Twenty-four of the differentially regulated genes were previously identified by genome-wide association studies of alcohol use disorders; this raises the potential interest of genes not normally associated with alcoholism, such as suppression of tumorigenicity 18 (ST18), BCL2-associated athanogene 3 (BAG3), and von Willebrand factor (VWF).", "output": {"entities": {"gene": [{"text": "ST18", "start": 265, "end": 269}], "disease": [{"text": "alcohol use disorders", "start": 115, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ST18", "start": 265, "end": 269}, "tail": {"text": "alcohol use disorders", "start": 115, "end": 136}}]}}, "schema": []}
{"input": "These findings suggest that (i) MICB expression is related to temporary skin inflammation, and (ii) expression of MICB is not directly associated with BD.", "output": {"entities": {"gene": [{"text": "MICB", "start": 32, "end": 36}], "disease": [{"text": "skin inflammation", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expression levels of acyl-CoA oxidase (AOX), a key enzyme in very-long-chain fatty acid peroxisomal oxidation, and of peroxisome proliferator-activated receptor-delta (PPAR-delta), a nuclear receptor possibly involved in the gene regulation of brain lipid metabolism, were determined in human Y79 retinoblastoma cells by using real-time quantitative polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "acyl-CoA oxidase", "start": 30, "end": 46}], "disease": [{"text": "retinoblastoma", "start": 306, "end": 320}]}, "relations": {}}, "schema": []}
{"input": "Nine cases of appendiceal carcinoid and 11 biopsies of carcinoid of other parts of the gastrointestinal tract, five cases of the small intestine and six of the stomach were immunohistochemically evaluated for Ki67, p53, DCC, E-cadherin and beta-catenin.", "output": {"entities": {"gene": [{"text": "DCC", "start": 220, "end": 223}], "disease": [{"text": "carcinoid", "start": 26, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that enhanced JNK activation is frequently found in primary brain tumors and that this activation contributes to phenotypes related to transformation.", "output": {"entities": {"gene": [{"text": "JNK", "start": 41, "end": 44}], "disease": [{"text": "primary brain tumors", "start": 79, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In PHC-treated groups, the administered PHC had a significant protective effect on the lung dysfunction induced by sepsis.", "output": {"entities": {"gene": [{"text": "PHC", "start": 3, "end": 6}], "disease": [{"text": "sepsis", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We firstly established the link between KLF1 mutations and relatively elevated hemoglobin A2 (HbA2) and HbF levels, along with lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) values in a group of α-thalassemia carriers.", "output": {"entities": {"gene": [{"text": "MCH", "start": 196, "end": 199}], "disease": [{"text": "mean corpuscular volume", "start": 133, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 75, "end": 80}], "disease": [{"text": "Wilson disease", "start": 98, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 75, "end": 80}, "tail": {"text": "Wilson disease", "start": 98, "end": 112}}]}}, "schema": []}
{"input": "In addition, ALK, CASC4, and SEMA5A were strongly associated with alcohol dependence (p & lt; 2 & #160; & #215; & #160; 10 (-5)) in the meta-analysis.", "output": {"entities": {"gene": [{"text": "CASC4", "start": 18, "end": 23}], "disease": [{"text": "alcohol dependence", "start": 66, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CASC4", "start": 18, "end": 23}, "tail": {"text": "alcohol dependence", "start": 66, "end": 84}}]}}, "schema": []}
{"input": "These data provide a novel link between Hsp10/Hsp60 and cardiac protection in doxorubicin cardiomyopathy.", "output": {"entities": {"gene": [{"text": "Hsp10", "start": 40, "end": 45}], "disease": [{"text": "cardiomyopathy", "start": 90, "end": 104}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Hsp10", "start": 40, "end": 45}, "tail": {"text": "cardiomyopathy", "start": 90, "end": 104}}]}}, "schema": []}
{"input": "In contrast, TERT knockout mice exhibited deficient fibrosis that was independent of telomere length.", "output": {"entities": {"gene": [{"text": "TERT", "start": 13, "end": 17}], "disease": [{"text": "fibrosis", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "DEC1 expression showed no topographical association with necrosis or expression of HIF-1alpha, CA9, or VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 103, "end": 107}], "disease": [{"text": "necrosis", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The findings of the present investigation suggest that measurement of PRL serum levels in MOT-test could be of value in early diagnosis of Sheehan syndrome.", "output": {"entities": {"gene": [{"text": "PRL", "start": 70, "end": 73}], "disease": [{"text": "Sheehan syndrome", "start": 139, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRL", "start": 70, "end": 73}, "tail": {"text": "Sheehan syndrome", "start": 139, "end": 155}}]}}, "schema": []}
{"input": "Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis.", "output": {"entities": {"gene": [{"text": "ARTS1", "start": 32, "end": 37}], "disease": [{"text": "spondylitis", "start": 90, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These findings increase our understanding of the interaction between therapeutic agents and the skin and suggest a functional role for CYP2S1 in the metabolism of topical drugs and in mediating the response to photochemotherapy in psoriasis.", "output": {"entities": {"gene": [{"text": "CYP2S1", "start": 135, "end": 141}], "disease": [{"text": "psoriasis", "start": 231, "end": 240}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2S1", "start": 135, "end": 141}, "tail": {"text": "psoriasis", "start": 231, "end": 240}}]}}, "schema": []}
{"input": "In conclusion, PLD1 and PLD2 expressions were strongly enhanced both in rat and human heart hypertrophy, which may be responsible for the coincident potentiation of the PLD activation by alpha-adrenoceptor and protein kinase C stimulation.", "output": {"entities": {"gene": [{"text": "PLD2", "start": 24, "end": 28}], "disease": [{"text": "heart hypertrophy", "start": 86, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLD2", "start": 24, "end": 28}, "tail": {"text": "heart hypertrophy", "start": 86, "end": 103}}]}}, "schema": []}
{"input": "The MLIV-causing mutations disrupt the luminal-domain structure and cause TRPML1 mislocalization.", "output": {"entities": {"gene": [{"text": "TRPML1", "start": 74, "end": 80}], "disease": [{"text": "MLIV", "start": 4, "end": 8}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPML1", "start": 74, "end": 80}, "tail": {"text": "MLIV", "start": 4, "end": 8}}]}}, "schema": []}
{"input": "These findings suggest that level of residual moisture of lyophilized fibrinogen with B19 spike correlated with a different resistance of B19 to dry-heat treatment, and that low moisture may stabilize virus against heat.", "output": {"entities": {"gene": [{"text": "B19", "start": 86, "end": 89}], "disease": [{"text": "fibrinogen", "start": 70, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In addition, logistic regression showed that the most optimal model for predicting an unbalanced chromosomal translocation is a combination of PAPP-A and nuchal translucency with an AUC of 0. 980.", "output": {"entities": {"gene": [{"text": "PAPP-A", "start": 143, "end": 149}], "disease": [{"text": "chromosomal translocation", "start": 97, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Recent transgenic mouse studies have revealed a high degree of toxicity due to transactive response DNA-binding protein 43 proteins when overexpressed under the control of strong neuronal gene promoters, resulting in early paralysis and death, but without the presence of amyotrophic lateral sclerosis-like ubiquitinated transactive response DNA-binding protein 43-positive inclusions.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 100, "end": 119}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 272, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "We described trisomy 8 mosaicism in a 6-month-old boy with left corneal leukoma, strabismus, posterior urethral valve, tibial bowing and congenital pseudarthrosis of the tibia (CPT) on graphic of left tibia.", "output": {"entities": {"gene": [{"text": "CPT", "start": 177, "end": 180}], "disease": [{"text": "posterior urethral valve", "start": 93, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In the adenocarcinoma metastases to bone obtained from 8 patients, deletions in exon 19 of the EGFR gene were revealed in 3 smoking men and one non-smoking woman, while L858R substitution in exon 21 was found in one smoking woman and one man of unknown smoking status.", "output": {"entities": {"gene": [{"text": "EGFR gene", "start": 95, "end": 104}], "disease": [{"text": "smoking", "start": 124, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "FUS", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Another subject with mild hypocholesterolemia (triacylglycerols = 209 mg/dl, cholesterol = 120 mg/dl) was found to have additional major and minor basic apolipoprotein A-IV isoforms.", "output": {"entities": {"gene": [{"text": "apolipoprotein A-IV", "start": 153, "end": 172}], "disease": [{"text": "mild", "start": 21, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Adult rescued mice produce hemoglobin at levels similar to wild-type mice, with partial red cell complementation based on mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and red cell distribution width (RDW) measurements.", "output": {"entities": {"gene": [{"text": "MCH", "start": 182, "end": 185}], "disease": [{"text": "mean corpuscular volume", "start": 122, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The nonmuscle myosin heavy chain 9 gene (MYH9) is associated with a spectrum of kidney diseases in African Americans, including idiopathic focal global glomerulosclerosis historically attributed to hypertension, idiopathic focal segmental glomerulosclerosis, and the collapsing variant of focal segmental glomerulosclerosis [HIV-associated nephropathy (HIVAN)].", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 21, "end": 32}], "disease": [{"text": "focal segmental glomerulosclerosis", "start": 223, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "Sixty-seven patients with stroke were selected according to the cerebral infarction diagnosis standard of the Fourth National Cerebrovascular Disease Conference and divided into a PSD group (28 patients, 43-76 years old) or a control stroke group (39 patients, 43-78 years old) using the Hamilton Rating Scale for Depression, and compared to 40 healthy volunteers (42-78 years old).", "output": {"entities": {"gene": [{"text": "PSD", "start": 180, "end": 183}], "disease": [{"text": "stroke", "start": 26, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Although very speculative, we hypothesize that increased GBA expression might relate to placentation through decreased BMP4 signaling or vascularization through downregulation of TFEB.", "output": {"entities": {"gene": [{"text": "BMP4", "start": 119, "end": 123}], "disease": [{"text": "vascularization", "start": 137, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Using in vitro assays with hematopoietic progenitors from patients of both patient groups we could provide experimental evidence for a residual activity of the thrombopoietin receptor in CAMT II patients.", "output": {"entities": {"gene": [{"text": "thrombopoietin receptor", "start": 160, "end": 183}], "disease": [{"text": "CAMT", "start": 187, "end": 191}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "thrombopoietin receptor", "start": 160, "end": 183}, "tail": {"text": "CAMT", "start": 187, "end": 191}}]}}, "schema": []}
{"input": "We identified two of nine Brazilian CCD families carrying two mutations in the RYR1 gene.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 79, "end": 83}], "disease": [{"text": "CCD", "start": 36, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 79, "end": 83}, "tail": {"text": "CCD", "start": 36, "end": 39}}]}}, "schema": []}
{"input": "The mildly affected heterozygotes had normal results on ocular examination but decreased rod sensitivities at most loci across the visual field, abnormalities in rod-isolated ERG a-and b-waves, and reduced rhodopsin levels.", "output": {"entities": {"gene": [{"text": "ERG", "start": 175, "end": 178}], "disease": [{"text": "abnormalities", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, cases with the-308A allele of the TNF-alpha gene have significantly higher hip and waist circumferences (p < 0. 05), BMI (p < 0. 01) and body fat mass (p < 0. 05) values than obese individuals carrying the-308G allele, but not the waist-to-hip ratio.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 49, "end": 58}], "disease": [{"text": "waist-to-hip ratio", "start": 246, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "In a 3-generation glaucoma family affected with JOAG or ocular hypertension, we screened myocilin (MYOC) and optineurin (OPTN) for mutations and investigated apolipoprotein E (APOE) polymorphisms in 6 family members, 2 of them patients with JOAG, 2 patients with ocular hypertension, and 2 patients who were asymptomatic.", "output": {"entities": {"gene": [{"text": "OPTN", "start": 121, "end": 125}], "disease": [{"text": "asymptomatic", "start": 308, "end": 320}]}, "relations": {}}, "schema": []}
{"input": "]), and not kinase dead AKT1 (179M) or AKT3 (177M), was capable of blocking invasion induced by either human epidermal growth factor receptor-2 (HER-2) overexpression or by activation of PI3-K. Taken together, these data indicate that AKT2 mediates PI3-K-dependent effects on adhesion, motility, invasion, and metastasis in vivo.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 109, "end": 141}], "disease": [{"text": "adhesion", "start": 276, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "We next confirmed that, in human HNSCC tumors, loss of KiSS1 expression was associated with metastatic human HNSCC tumors compared with non-metastatic tumors.", "output": {"entities": {"gene": [{"text": "KiSS1", "start": 55, "end": 60}], "disease": [{"text": "HNSCC", "start": 33, "end": 38}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "KiSS1", "start": 55, "end": 60}, "tail": {"text": "HNSCC", "start": 33, "end": 38}}]}}, "schema": []}
{"input": "Gene expression profiling at distinct stages of tumor progression revealed an increase in EMT-associated Sox9 and changes in the Wnt signaling pathway, including Fzd4, which was validated in human PCa.", "output": {"entities": {"gene": [{"text": "EMT", "start": 90, "end": 93}], "disease": [{"text": "tumor progression", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In linear regression models among 147 children with ferritin > 10 ng/mL that adjusted for erythropoiesis with log (10) reticulocyte count, the hypoxic response with hemoglobin concentration and iron status with log (10) ferritin concentration, positive correlations were found between log (10) transferrin receptor concentration and log (10) C-reactive protein concentration (P = 0. 012), log (10) interleukin-6 concentration (P = 0. 011) and log (10) neutrophil count (P = 0. 013).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 342, "end": 360}], "disease": [{"text": "hypoxic", "start": 143, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "While AAV-and lentivirus-mediated gene replacement therapy can produce structural and functional improvements in various animal models of inherited retinal degeneration, this approach often has very limited effects on the rate of photoreceptor cell loss.", "output": {"entities": {"gene": [{"text": "AAV", "start": 6, "end": 9}], "disease": [{"text": "retinal degeneration", "start": 148, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We assessed the-765G > C polymorphism and COX-2 expression in 220 asymptomatic subjects free of cardiovascular disease, in relation to global vascular risk, carotid intima-media thickness (IMT), and inflammatory markers (fibrinogen, C-reactive protein [CRP], von Willebrand factor [vWF] and interleukin-6 [IL-6]).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 306, "end": 310}], "disease": [{"text": "asymptomatic", "start": 66, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Knockout of CDC4 in vitro in colorectal cancer cells causes changes suggestive of chromosomal instability (CIN).", "output": {"entities": {"gene": [{"text": "CDC4", "start": 12, "end": 16}], "disease": [{"text": "chromosomal instability", "start": 82, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We replicated the associations between HNF1A coding variants and C-reactive protein, fibrinogen, low-density lipoprotein cholesterol, and renal function in a second population-based sample of EA adults 65 years and older from the Cardiovascular Health Study.", "output": {"entities": {"gene": [{"text": "HNF1A", "start": 39, "end": 44}], "disease": [{"text": "fibrinogen", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Expression of CDK5 in gastric tumor and paired adjacent noncancerous tissues from 437 patients was measured by Western blotting, immunohistochemistry, and real-time PCR.", "output": {"entities": {"gene": [{"text": "CDK5", "start": 14, "end": 18}], "disease": [{"text": "gastric tumor", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We did not observe effect modification of either the GSTM1 or GSTT1 association with cancer risk by smoking status, postmenopausal hormone use, or body mass index.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 62, "end": 67}], "disease": [{"text": "body mass index", "start": 147, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Infection with gram-negative monocytotropic Ehrlichia strains results in a fatal toxic shock-like syndrome characterized by a decreased number of Ehrlichia-specific CD4 (+) Th1 cells, the expansion of tumor necrosis factor alpha (TNF-alpha)-producing CD8 (+) T cells, and the systemic overproduction of interleukin-10 (IL-10) and TNF-alpha.", "output": {"entities": {"gene": [{"text": "CD8", "start": 251, "end": 254}], "disease": [{"text": "toxic shock", "start": 81, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "10 μM), reduced the expression of hexokinase type-II, induced cell-cycle arrest at G1-S phase transition, altered annexin V reactivity and induced DNA fragmentation without evidence of necrosis.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 114, "end": 123}], "disease": [{"text": "necrosis", "start": 185, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Our data showed that the PTEN/PI3K pathway was active in human ESCC tissues in vivo, particularly in ESCC with decreased E-cadherin and increased vimentin protein expression, poor differentiation, deep invasion and lymph node metastasis, which are responsible for EMT and tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 264, "end": 267}], "disease": [{"text": "tumor progression", "start": 272, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "Targeted inactivation of Dlx5 and Dlx6 in mice results in multiple developmental defects in craniofacial and limb structures, suggesting that these genes are crucial for aspects of both neural crest and nonneural crest development.", "output": {"entities": {"gene": [{"text": "Dlx6", "start": 34, "end": 38}], "disease": [{"text": "crest", "start": 193, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Many of these lymphomas have the t (14; 18) translocation, which results in increased bcl-2 expression and resistance to apoptosis.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 86, "end": 91}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Exposure of Jurkat cells to BITC resulted in dose-and time-dependent increase in apoptosis, caspase activation, cytochrome c release, nuclear apoptosis-inducing factor (AIF) accumulation, Bcl2-associated X protein (Bax) translocation, and myeloid cell leukemia-1 (Mcl-1) downregulation.", "output": {"entities": {"gene": [{"text": "Mcl-1", "start": 264, "end": 269}], "disease": [{"text": "translocation", "start": 220, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Therefore, our results did not support the involvement of the alleles at MAOA and MAOB in the etiology of mood disorder.", "output": {"entities": {"gene": [{"text": "MAOB", "start": 82, "end": 86}], "disease": [{"text": "mood disorder", "start": 106, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAOB", "start": 82, "end": 86}, "tail": {"text": "mood disorder", "start": 106, "end": 119}}]}}, "schema": []}
{"input": "We evaluated the sensitivity and false positive rate (FPR) (95% confidence interval (CI)) of three screening methods for DS and all chromosomal disorders: CT, CT + MGS, and CT + fetal echocardiography.", "output": {"entities": {"gene": [{"text": "FPR", "start": 54, "end": 57}], "disease": [{"text": "chromosomal disorders", "start": 132, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma.", "output": {"entities": {"gene": [{"text": "ABCA12", "start": 50, "end": 56}], "disease": [{"text": "nonbullous congenital ichthyosiform erythroderma", "start": 75, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA12", "start": 50, "end": 56}, "tail": {"text": "nonbullous congenital ichthyosiform erythroderma", "start": 75, "end": 123}}]}}, "schema": []}
{"input": "This study aimed to determine whether there is a relationship between common FTO (rs17817449) and MC4R (rs17782313) gene variants and body mass reduction or weight loss after a one-month lifestyle intervention in overweight/obese children.", "output": {"entities": {"gene": [{"text": "FTO", "start": 77, "end": 80}], "disease": [{"text": "overweight", "start": 213, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "We confirmed the 1. 87 (p = 0. 021) increased relative risk for microalbuminuria in patients with DR3/DR3 alleles and same duration of diabetes.", "output": {"entities": {"gene": [{"text": "DR3", "start": 98, "end": 101}], "disease": [{"text": "microalbuminuria", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Associations between each GRS and a self-reported history of CVD, coronary artery calcified plaque (CAC) determined by noncontrast computed tomography scan, all-cause mortality, and CVD mortality were examined using marginal models with generalized estimating equations and Cox proportional hazards models.]", "output": {"entities": {"gene": [{"text": "CAC", "start": 100, "end": 103}], "disease": [{"text": "plaque", "start": 92, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We describe here the identification of a novel mutation, Arg552Trp, in the RYR1 gene, which is clearly linked to the MHS phenotype in a large, well characterised Irish pedigree.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 75, "end": 79}], "disease": [{"text": "MHS", "start": 117, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 75, "end": 79}, "tail": {"text": "MHS", "start": 117, "end": 120}}]}}, "schema": []}
{"input": "In this study, we present what we believe to be the first antibody deficiency syndrome caused by a mutation in the CD81 gene and consequent disruption of the CD19 complex on B cells.", "output": {"entities": {"gene": [{"text": "CD19", "start": 158, "end": 162}], "disease": [{"text": "antibody deficiency syndrome", "start": 58, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "One is PIK3C3, a member of the phosphatidylinositide 3-kinase family that maps closely to markers on 18q linked to both BD and SZ in a few studies.", "output": {"entities": {"gene": [{"text": "PIK3C3", "start": 7, "end": 13}], "disease": [{"text": "BD", "start": 120, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PIK3C3", "start": 7, "end": 13}, "tail": {"text": "BD", "start": 120, "end": 122}}]}}, "schema": []}
{"input": "As compared to findings in the normal counterparts, AdipoR1 mRNA expression, standardized by β-actin mRNA, tended to be lower (cancer 0. 488 ± 0. 039, normal 0. 955 ± 0. 281, p = 0. 0726) and AdipoR2 expression was significantly lower (0. 818 ± 0. 081, 1. 500 ± 0. 222, p = 0. 0035) in gastric cancer tissue.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 192, "end": 199}], "disease": [{"text": "gastric cancer", "start": 286, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "Higher SLC6A4 promoter methylation status was independently associated with PSD both at 2 weeks and more prominently at 1 year after stroke, and was significantly associated with the worsening of depressive symptoms over one year.", "output": {"entities": {"gene": [{"text": "PSD", "start": 76, "end": 79}], "disease": [{"text": "stroke", "start": 133, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that dysferlin functions may contribute to muscle cell viability in the knock-in mice; however, pathological interactions between glycosylation abnormalities and dysferlin defects remain unexplored.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 21, "end": 30}], "disease": [{"text": "abnormalities", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "However, our failure to find genetic association suggests that the differential expression of ERBB3 in schizophrenia may be environmentally driven, or involve cis-or trans-acting genetic factors beyond the boundaries of the gene itself.", "output": {"entities": {"gene": [{"text": "ERBB3", "start": 94, "end": 99}], "disease": [{"text": "schizophrenia", "start": 103, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERBB3", "start": 94, "end": 99}, "tail": {"text": "schizophrenia", "start": 103, "end": 116}}]}}, "schema": []}
{"input": "C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.", "output": {"entities": {"gene": [{"text": "titin", "start": 11, "end": 16}], "disease": [{"text": "early-onset myopathy with fatal cardiomyopathy", "start": 41, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "titin", "start": 11, "end": 16}, "tail": {"text": "early-onset myopathy with fatal cardiomyopathy", "start": 41, "end": 87}}]}}, "schema": []}
{"input": "This inhibition prevented the activation of HIF-1 target genes under hypoxia such as vascular endothelial growth factor (VEGF) and glucose transporter-1 (Glut-1).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 121, "end": 125}], "disease": [{"text": "hypoxia", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.", "output": {"entities": {"gene": [{"text": "DNASE1L3", "start": 0, "end": 8}], "disease": [{"text": "hypocomplementemic urticarial vasculitis", "start": 22, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNASE1L3", "start": 0, "end": 8}, "tail": {"text": "hypocomplementemic urticarial vasculitis", "start": 22, "end": 62}}]}}, "schema": []}
{"input": "In humans, heterozygous mutations of the PHOX2B gene lead to congenital central hypoventilation syndrome (CCHS), a rare disorder characterized by a broad variety of symptoms of autonomic nervous system dysfunction including inadequate control of breathing.", "output": {"entities": {"gene": [{"text": "PHOX2B gene", "start": 41, "end": 52}], "disease": [{"text": "breathing", "start": 246, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "SHP2, PIAS3, and SOCS3 are STAT3 negative regulators; therefore, their statuses in cervical adenocarcinoma (HeLa) and squamous cell carcinoma (SiHa and C33A) cell lines without and with resveratrol treatment and their correlation with STAT3 activation in CC specimens were investigated.", "output": {"entities": {"gene": [{"text": "PIAS3", "start": 6, "end": 11}], "disease": [{"text": "cervical adenocarcinoma", "start": 83, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, several genes (TESK2, TIPARP, THEMIS, ABLIM1, RFX4, STON2 and LILRA1) are associated with three personality traits with p < 10 (-3) using single trait analysis and AD.", "output": {"entities": {"gene": [{"text": "RFX4", "start": 61, "end": 65}], "disease": [{"text": "personality traits", "start": 111, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.", "output": {"entities": {"gene": [{"text": "ZNF408", "start": 31, "end": 37}], "disease": [{"text": "retinitis pigmentosa", "start": 88, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZNF408", "start": 31, "end": 37}, "tail": {"text": "retinitis pigmentosa", "start": 88, "end": 108}}]}}, "schema": []}
{"input": "MSC-derived EV obtained in hyperglycaemic/hypoxic conditions down-regulate miR-126 expression in pericytes, leading to increased expression of angiogenic molecules, such as VEGF and HIF-1α.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 173, "end": 177}], "disease": [{"text": "hypoxic", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "We determined that starvation also induced DRAM expression and DRAM-mediated autophagy in both normal hepatocytes and HCC cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 118, "end": 121}], "disease": [{"text": "starvation", "start": 19, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "We amplified these (AAAT) repeat variants from the NOS2A gene (denoted iNOS R4 and iNOS R5) from 325 Finnish men included in the Helsinki Sudden Death Study, and studied their association with indices of stenosis and atherosclerosis of the left anterior descending artery (LAD), right coronary artery (RCA) and left circumflex artery (LCX).", "output": {"entities": {"gene": [{"text": "LCX", "start": 335, "end": 338}], "disease": [{"text": "atherosclerosis", "start": 217, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "There were no differences in p53, Ki67, CD30, and CD117 expression between testicular seminoma with and without clinical metastasis at diagnosis, regardless of the magnitude of expression.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 34, "end": 38}], "disease": [{"text": "testicular seminoma", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Our finding suggests that IL-18 polymorphism (rs1946518) may not be a risk factor for susceptibility to tuberculosis in a sample of Iranian population.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 26, "end": 31}], "disease": [{"text": "susceptibility to tuberculosis", "start": 86, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Instead, they were linked to the coordinated upregulation in gastrocnemius of genes that govern glucose uptake and the hexosamine pathway, namely, GLUT1 and GFAT1, which might contribute to insulin resistance.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 147, "end": 152}], "disease": [{"text": "insulin resistance", "start": 190, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "In IDH lesions loss of heterozygosity (LOH) at various loci could be identified, and comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) studies delivered evidence for DNA amplification on chromosomal region 20q13 in the early stage of IDH. However, little is currently known about genetic alterations in those premalignant lesions, and the chronology of genetic alterations and histopathological changes during carcinogenesis is mainly undiscovered.", "output": {"entities": {"gene": [{"text": "FISH", "start": 165, "end": 169}], "disease": [{"text": "premalignant", "start": 345, "end": 357}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for pre-treatment hemoglobin in a multivariate analysis, ERCC1 FL297 expression status remained statistically significant for OS [HR 1. 9 (1. 1-3. 3), p = 0. 031].", "output": {"entities": {"gene": [{"text": "ERCC1", "start": 73, "end": 78}], "disease": [{"text": "hemoglobin", "start": 34, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Consistent with the more aggressive disease associated with low expression, helicase-like transcription factor knockdown in leukemic cells promoted proliferation and chromosomal instability that was accompanied by downregulation of mitotic regulators and impaired DNA damage response.", "output": {"entities": {"gene": [{"text": "helicase-like transcription factor", "start": 76, "end": 110}], "disease": [{"text": "chromosomal instability", "start": 166, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Loss of PINK1 enhances neurodegeneration in a mouse model of Parkinson' s disease triggered by mitochondrial stress.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 8, "end": 13}], "disease": [{"text": "neurodegeneration", "start": 23, "end": 40}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PINK1", "start": 8, "end": 13}, "tail": {"text": "neurodegeneration", "start": 23, "end": 40}}]}}, "schema": []}
{"input": "Relationship of NAT2, CYP2E1 and GSTM1/GSTT1 polymorphisms with mild elevation of liver enzymes in Brazilian individuals under anti-tuberculosis drug therapy.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 16, "end": 20}], "disease": [{"text": "mild", "start": 64, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations.", "output": {"entities": {"gene": [{"text": "SWI", "start": 52, "end": 55}], "disease": [{"text": "uniparental disomy", "start": 209, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H (+) ATPase, in two individuals with ZLS.", "output": {"entities": {"gene": [{"text": "ATP6V1B2", "start": 58, "end": 66}], "disease": [{"text": "ZLS", "start": 157, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP6V1B2", "start": 58, "end": 66}, "tail": {"text": "ZLS", "start": 157, "end": 160}}]}}, "schema": []}
{"input": "Conversely, colon carcinoma cells that lacked DHODH expression were markedly resistant to the pro-oxidant and cytotoxic effects of 4HPR.", "output": {"entities": {"gene": [{"text": "DHODH", "start": 46, "end": 51}], "disease": [{"text": "colon carcinoma", "start": 12, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "An increase of the ADRB2 genes expression was demonstrated in patients with severe asthma and COPD as compared with patients with mild and moderate disease.", "output": {"entities": {"gene": [{"text": "ADRB2", "start": 19, "end": 24}], "disease": [{"text": "mild", "start": 130, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we examined the expression of the alpha5 (IV)/alpha6 (IV) chains and the methylation profiles of the bidirectional promoter region of COL4A5/COL4A6 in colon cancer cell lines and colorectal tumor tissues.", "output": {"entities": {"gene": [{"text": "COL4A5", "start": 156, "end": 162}], "disease": [{"text": "colon cancer", "start": 173, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Genes encoding proteins that are involved in the metabolism (CYP3A5) and transport (ABCB1) of drugs and hormones might contribute to blood pressure control in humans.", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 84, "end": 89}], "disease": [{"text": "blood pressure", "start": 133, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We report two mutations in a rat model of inattentive ADHD, the WKY/NCrl rat, which affect the interaction of SLC9A9 with calcineurin homologous protein (CHP).", "output": {"entities": {"gene": [{"text": "CHP", "start": 154, "end": 157}], "disease": [{"text": "inattentive", "start": 42, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the increased secretion of ET-1 leading to enhanced pigmentation in SK results from the co-ordinated increased expression of TNF-alpha and ECE-1alpha.", "output": {"entities": {"gene": [{"text": "ECE", "start": 167, "end": 170}], "disease": [{"text": "pigmentation", "start": 80, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "BRCA1-and p53-deficient mouse mammary tumors exhibit dramatic genomic instability, and their molecular signatures resemble those of human BRCA1-mutated breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "genomic instability", "start": 62, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Neither receptor was detectable in normal liver by immunohistochemistry, but both LGR7 and LGR8 were readily detectable in cirrhosis.", "output": {"entities": {"gene": [{"text": "LGR7", "start": 82, "end": 86}], "disease": [{"text": "cirrhosis", "start": 123, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The pre-osteoclast cell pool, osteoclast differentiation, and bone resorption in response to receptor activator of nuclear factor κB ligand in vitro were increased in Notch2 (Q2319X) mutants.", "output": {"entities": {"gene": [{"text": "Notch2", "start": 167, "end": 173}], "disease": [{"text": "bone resorption", "start": 62, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The median edema fluid/plasma ratio of RAGE levels was 105 (interquartile range, 55-243).", "output": {"entities": {"gene": [{"text": "RAGE", "start": 39, "end": 43}], "disease": [{"text": "edema", "start": 11, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "The translocation in chronic lymphocytic leukemia results in the juxtaposition of the bcl-2 gene to various regions on the immunoglobulin light chain loci.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 86, "end": 96}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Combined with the finding that HN derivatives upregulate mRNA expression of neuronal ChAT and vesicular acetylcholine transporter (VAChT) in vitro, it is assumed that CLN may ameliorate memory impairment of AD models by supporting cholinergic neurotransmission, which is at least partly mediated by STAT3-mediated transcriptional upregulation of ChAT and VAChT.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 299, "end": 304}], "disease": [{"text": "memory impairment", "start": 186, "end": 203}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STAT3", "start": 299, "end": 304}, "tail": {"text": "memory impairment", "start": 186, "end": 203}}]}}, "schema": []}
{"input": "In this study, we used differential display to investigate the alterations of gene expression in BV173, a CML cell line derived from lymphoid blast crisis, after exposure to ST1571, which selectively inhibits ABL PTK activity.", "output": {"entities": {"gene": [{"text": "PTK", "start": 213, "end": 216}], "disease": [{"text": "blast crisis", "start": 142, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Genetic deletion of MeCP2 function in only the nervous system was sufficient to cause long QTc and ventricular tachycardia, implicating neuronally mediated changes to cardiac electrical conduction as a potential cause of ventricular tachycardia in Rett syndrome.", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 20, "end": 25}], "disease": [{"text": "nervous system", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "A recurrent chromosomal abnormality associated with a subset of papillary renal cell carcinomas is t (X; 1) (p11; q21).", "output": {"entities": {"gene": [{"text": "p11", "start": 109, "end": 112}], "disease": [{"text": "chromosomal abnormality", "start": 12, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We have also previously shown GRK3 expression to be induced by amphetamine in an animal model of mania using microarray-based expression profiling.", "output": {"entities": {"gene": [{"text": "GRK3", "start": 30, "end": 34}], "disease": [{"text": "mania", "start": 97, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRK3", "start": 30, "end": 34}, "tail": {"text": "mania", "start": 97, "end": 102}}]}}, "schema": []}
{"input": "We now report four different missense mutations including three novel ones, which were identified by sequence analysis of mevalonate kinase cDNA from three mevalonic aciduria patients.", "output": {"entities": {"gene": [{"text": "mevalonate kinase", "start": 122, "end": 139}], "disease": [{"text": "mevalonic aciduria", "start": 156, "end": 174}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "mevalonate kinase", "start": 122, "end": 139}, "tail": {"text": "mevalonic aciduria", "start": 156, "end": 174}}]}}, "schema": []}
{"input": "Our results provide the first evidence that GRP78 confers resistance to estrogen starvation-induced apoptosis in human breast cancer cells via a novel mechanism mediated by BIK.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 44, "end": 49}], "disease": [{"text": "starvation", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Our study indicates that (1) p63 and p73 expression may represent an early event in HNSC tumorigenesis, (2) the lack of correlation between p73 or p63 and p53 expression suggests an independent and/or compensatory functional role, (3) p73 expression may play a part in HNSC progression, and (4) p73 and p63 may function as oncogenes in the development of these tumors.", "output": {"entities": {"gene": [{"text": "p63", "start": 29, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The anti-mitotic drug griseofulvin induces apoptosis of human germ cell tumor cells through a connexin 43-dependent molecular mechanism.", "output": {"entities": {"gene": [{"text": "connexin 43", "start": 94, "end": 105}], "disease": [{"text": "germ cell tumor", "start": 62, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Significantly, increased MBNL1 in skeletal muscle partially corrected myotonia and splicing defects present in these mice, demonstrating the responsiveness of the model to relevant therapeutic interventions.", "output": {"entities": {"gene": [{"text": "MBNL1", "start": 25, "end": 30}], "disease": [{"text": "myotonia", "start": 70, "end": 78}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MBNL1", "start": 25, "end": 30}, "tail": {"text": "myotonia", "start": 70, "end": 78}}]}}, "schema": []}
{"input": "Impaired periamygdaloid-cortex prodynorphin is characteristic of opiate addiction and depression.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 31, "end": 43}], "disease": [{"text": "depression", "start": 86, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 31, "end": 43}, "tail": {"text": "depression", "start": 86, "end": 96}}]}}, "schema": []}
{"input": "Albers-Schönberg disease, or autosomal dominant osteopetrosis type II (ADO2), is caused by ineffective osteoclastic bone resorption resulting from mutations in the chloride channel 7 (ClCN7) gene.", "output": {"entities": {"gene": [{"text": "ClCN7", "start": 184, "end": 189}], "disease": [{"text": "bone resorption", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "However, in patients with the TLR2 R753Q SNP, higher rates of infection recurrence (27. 8% versus 11. 8%, P = 0. 07) and initial septic shock (11. 1% versus 1. 2%, P = 0. 047) were observed.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 30, "end": 34}], "disease": [{"text": "septic shock", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "In C57BL/6 mice, genetic immunization with recombinant adenovirus encoding xenogeneic human tyrosinase-related protein 2 (Ad-hTRP2) induces protective but not therapeutic cellular immunity against growth of transplanted B16 melanoma cells.", "output": {"entities": {"gene": [{"text": "tyrosinase-related protein 2", "start": 92, "end": 120}], "disease": [{"text": "adenovirus", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Retinal vascularization was investigated in flatmount preparations after concanavalin A labeling of endothelial cells on days P6, P14, P17, and P20.", "output": {"entities": {"gene": [{"text": "P14", "start": 130, "end": 133}], "disease": [{"text": "vascularization", "start": 8, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We propose that these three RA-binding proteins can serve as biomarkers for predicting triple-negative breast cancer response to RA, with elevated levels of either cytoplasmic CRABP1 or FABP5 associated with RA resistance, and elevated levels of nuclear CRABP2 associated with sensitivity to RA.", "output": {"entities": {"gene": [{"text": "CRABP2", "start": 254, "end": 260}], "disease": [{"text": "triple-negative breast cancer", "start": 87, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Frequency of the intron 4 polymorphism of NOS3 (designated allele A) among patients with preeclampsia compared with controls.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 42, "end": 46}], "disease": [{"text": "preeclampsia", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 6, "end": 11}], "disease": [{"text": "hemophilia A", "start": 38, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 6, "end": 11}, "tail": {"text": "hemophilia A", "start": 38, "end": 50}}]}}, "schema": []}
{"input": "In vitro study, knocking down of p300 expression in hepatoma cells recovered E-cadherin expression, inhibited the translocation of beta (β)-catenin into the nuclei, decreased cyclin D1 activity and suppressed the migration/invasion of HCC cells.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 77, "end": 87}], "disease": [{"text": "translocation", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Given the hypothesis of a common soil for atherosclerosis, type 2 diabetes and metabolic syndrome, we tested the contribution of gene polymorphisms involved in cardiovascular diseases on fasting insulin concentration (FIC).", "output": {"entities": {"gene": [{"text": "FIC", "start": 218, "end": 221}], "disease": [{"text": "metabolic syndrome", "start": 79, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Podocyte-specific transgenic overexpression of Angptl4 (NPHS2-Angptl4) in rats induced nephrotic-range, and selective, proteinuria (over 500-fold increase in albuminuria), loss of glomerular basement membrane (GBM) charge and foot process effacement, whereas transgenic expression specifically in the adipose tissue (aP2-Angptl4) resulted in increased circulating Angptl4, but no proteinuria.", "output": {"entities": {"gene": [{"text": "Angptl4", "start": 47, "end": 54}], "disease": [{"text": "albuminuria", "start": 158, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "In addition, the chimeric junction AML1/MDS1/EVII has been detected in cells from one of our patients with the 3; 21 translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 35, "end": 39}], "disease": [{"text": "translocation", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We examined memory improvement with respect to the effects of gastrin-releasing peptide (GRP) in male C57BL/6J mice under conditions of experimentally induced amnesia.", "output": {"entities": {"gene": [{"text": "gastrin-releasing peptide", "start": 62, "end": 87}], "disease": [{"text": "amnesia", "start": 159, "end": 166}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "gastrin-releasing peptide", "start": 62, "end": 87}, "tail": {"text": "amnesia", "start": 159, "end": 166}}]}}, "schema": []}
{"input": "Adverse effects were seen on the total NNE-C (β =-2. 55; p =. 02) and on primitive reflexes (β =-1. 70; p =. 004), especially in grasp reflexes (β =-. 36; p =. 011) and tonic neck reflexes (β =-. 36; p =. 049).", "output": {"entities": {"gene": [{"text": "NNE", "start": 39, "end": 42}], "disease": [{"text": "primitive reflexes", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "This study suggests that mesothelioma cells are sensitive to the induction of apoptosis related to the attenuation of antiapoptotic bcl-xl gene and protein expression.", "output": {"entities": {"gene": [{"text": "bcl-xl", "start": 132, "end": 138}], "disease": [{"text": "mesothelioma", "start": 25, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder; (ii) these two disorders share common disease-related mechanisms linked to dopamine signalling; (iii) the expression of these genes is closely correlated; and (iv) DRD2 provides the initial trigger in the pathogenesis of these disorders.", "output": {"entities": {"gene": [{"text": "C14ORF28", "start": 22, "end": 30}], "disease": [{"text": "bipolar disorder", "start": 120, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C14ORF28", "start": 22, "end": 30}, "tail": {"text": "bipolar disorder", "start": 120, "end": 136}}]}}, "schema": []}
{"input": "In the vascular system, Cav3. 2 activation leads to dilation of blood vessels, whereas Cav3. 1 channels are mainly suggested to affect constriction.", "output": {"entities": {"gene": [{"text": "Cav3. 2", "start": 24, "end": 31}], "disease": [{"text": "dilation", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Synovial sarcoma is characterized by a specific recurrent translocation t (X; 18), resulting in either the SYT-SSX1 or SYT-SSX2 gene fusion.", "output": {"entities": {"gene": [{"text": "SSX2 gene", "start": 123, "end": 132}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "IL-10 polymorphisms in-819 and-592 positions correlated with the postoperative residual tumor mass (p = 0. 036 and p = 0. 035, respectively).", "output": {"entities": {"gene": [{"text": "IL-10", "start": 0, "end": 5}], "disease": [{"text": "residual tumor", "start": 79, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Apoptosis signal-regulating kinase 1 regulates colitis and colitis-associated tumorigenesis by the innate immune responses.", "output": {"entities": {"gene": [{"text": "Apoptosis signal-regulating kinase 1", "start": 0, "end": 36}], "disease": [{"text": "tumorigenesis", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined 19 cases of LEC from the United States for evidence of microsatellite instability at the DNA level and for alterations in the DNA mismatch repair (MMR) system at the immunohistochemical staining level.", "output": {"entities": {"gene": [{"text": "MMR", "start": 174, "end": 177}], "disease": [{"text": "microsatellite instability", "start": 82, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Blood collections were used to measure blood glucose, bacteremia, plasma protein C, D-dimer, hormones, chemokines, cytokines, and myoglobin (as a marker of organ damage).", "output": {"entities": {"gene": [{"text": "protein C", "start": 73, "end": 82}], "disease": [{"text": "bacteremia", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Although BF treatment did not further up-regulate MDR3 expression in NAFLD patients, PPARalpha expression was significantly increased.", "output": {"entities": {"gene": [{"text": "MDR3", "start": 50, "end": 54}], "disease": [{"text": "NAFLD", "start": 69, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MDR3", "start": 50, "end": 54}, "tail": {"text": "NAFLD", "start": 69, "end": 74}}]}}, "schema": []}
{"input": "The mRNA expression patterns of IFN-gamma and tumor necrosis factor alpha were examined in parallel, and the results revealed that cytokine mRNA (+) cells were abundant and generally localized to the granulomas.", "output": {"entities": {"gene": [{"text": "IFN", "start": 32, "end": 35}], "disease": [{"text": "granulomas", "start": 200, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "The median left ventricular mass index measured with echocardiography was normal in all the 3 subgroups. cTnT mRNA expression in skeletal muscle was not detectable in controls but was strongly induced in patients with Pompe disease. cTnT protein was identified by mass spectrometry in patient-derived skeletal muscle tissue.", "output": {"entities": {"gene": [{"text": "cTnT", "start": 105, "end": 109}], "disease": [{"text": "Pompe disease", "start": 218, "end": 231}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cTnT", "start": 105, "end": 109}, "tail": {"text": "Pompe disease", "start": 218, "end": 231}}]}}, "schema": []}
{"input": "Angiopoietin-1 therapy enhances fibrosis and inflammation following folic acid-induced acute renal injury.", "output": {"entities": {"gene": [{"text": "Angiopoietin-1", "start": 0, "end": 14}], "disease": [{"text": "fibrosis", "start": 32, "end": 40}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angiopoietin-1", "start": 0, "end": 14}, "tail": {"text": "fibrosis", "start": 32, "end": 40}}]}}, "schema": []}
{"input": "Surface expression of CD62 was also significantly increased in the depressed patients versus control subjects.", "output": {"entities": {"gene": [{"text": "CD62", "start": 22, "end": 26}], "disease": [{"text": "depressed", "start": 67, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD62", "start": 22, "end": 26}, "tail": {"text": "depressed", "start": 67, "end": 76}}]}}, "schema": []}
{"input": "Early in acute myocardial infarction the expression of miR-423-5p in plasma is significantly increased with subsequent normalization within 6 hours.", "output": {"entities": {"gene": [{"text": "miR-423", "start": 55, "end": 62}], "disease": [{"text": "myocardial infarction", "start": 15, "end": 36}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-423", "start": 55, "end": 62}, "tail": {"text": "myocardial infarction", "start": 15, "end": 36}}]}}, "schema": []}
{"input": "Progression of follicular lymphoma to a more aggressive lymphoma is seen in the majority of patients, and approximately 10% of the transformed lymphomas have a translocation of c-myc in addition to the translocation of bcl-2 found in the original follicular lymphoma.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 219, "end": 224}], "disease": [{"text": "translocation", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Here we report the exclusion of five of these genes and the identification of the first mutations responsible for the development of PXE in a gene encoding a protein associated with multidrug resistance (ABCC6).", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 204, "end": 209}], "disease": [{"text": "PXE", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 204, "end": 209}, "tail": {"text": "PXE", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "This expression also destabilized the PLZF/RARα-induced high-molecular-weight complex formation and caused the degradation of the fusion protein.", "output": {"entities": {"gene": [{"text": "PLZF", "start": 38, "end": 42}], "disease": [{"text": "weight", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "SSTR1 and SSTR4 immunoreactivities were increased in the hippocampus at 1 week after SE.", "output": {"entities": {"gene": [{"text": "SSTR1", "start": 0, "end": 5}], "disease": [{"text": "SE", "start": 85, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SSTR1", "start": 0, "end": 5}, "tail": {"text": "SE", "start": 85, "end": 87}}]}}, "schema": []}
{"input": "We demonstrate convincing evidence that SUFU mutations can cause classical Gorlin syndrome.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 40, "end": 44}], "disease": [{"text": "Gorlin syndrome", "start": 75, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUFU", "start": 40, "end": 44}, "tail": {"text": "Gorlin syndrome", "start": 75, "end": 90}}]}}, "schema": []}
{"input": "Mice that overexpress an approximately 200-kb region of human 22q11. 2, containing CDCrel, GP1Bbeta, TBX1, and WDR14, exhibited spontaneous sensitization of hyperactivity and a lack of habituation.", "output": {"entities": {"gene": [{"text": "TBX1", "start": 101, "end": 105}], "disease": [{"text": "hyperactivity", "start": 157, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "In summary, the Rho/ROCK/HIF-1alpha signaling is an essential mechanism for hypoxia-driven, VEGF-mediated autocrine loop in ECs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 92, "end": 96}], "disease": [{"text": "hypoxia", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.", "output": {"entities": {"gene": [{"text": "N-acetylgalactosamine-4-sulfatase", "start": 64, "end": 97}], "disease": [{"text": "MPS-VI", "start": 152, "end": 158}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "N-acetylgalactosamine-4-sulfatase", "start": 64, "end": 97}, "tail": {"text": "MPS-VI", "start": 152, "end": 158}}]}}, "schema": []}
{"input": "Hereditary angioedema (HAE) is a genetic syndrome caused by a functional deficit in complement C1 inhibitor that results in recurrent episodes of nonpruritic swelling of the hands, feet, arms, legs, trunk, face, genitalia, bowels, and larynx beginning in childhood or adolescence and continuing throughout the patient' s lifetime.", "output": {"entities": {"gene": [{"text": "C1 inhibitor", "start": 95, "end": 107}], "disease": [{"text": "Hereditary angioedema", "start": 0, "end": 21}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "C1 inhibitor", "start": 95, "end": 107}, "tail": {"text": "Hereditary angioedema", "start": 0, "end": 21}}]}}, "schema": []}
{"input": "We investigated the association of signals from previous GWAS and candidate gene meta-analyses for diabetic retinopathy (DR) or nephropathy (DN), as well as an EPO variant in meta-analyses of severe (SDR) and mild diabetic retinopathy (MDR).", "output": {"entities": {"gene": [{"text": "EPO", "start": 160, "end": 163}], "disease": [{"text": "mild", "start": 209, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Available tumours were analysed for microsatellite instability and expression of MMR proteins.", "output": {"entities": {"gene": [{"text": "MMR", "start": 81, "end": 84}], "disease": [{"text": "microsatellite instability", "start": 36, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Granulosa cells of obese pigs had increased 3-beta-hydroxysteroid dehydrogenase 1 transcript levels.", "output": {"entities": {"gene": [{"text": "3-beta-hydroxysteroid dehydrogenase 1", "start": 44, "end": 81}], "disease": [{"text": "obese", "start": 19, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Isoimmunization against CD36 can cause neonatal isoimmune thrombocytopenia (NITP), refractoriness to platelet transfusions, and post-transfusion purpura.", "output": {"entities": {"gene": [{"text": "CD36", "start": 24, "end": 28}], "disease": [{"text": "purpura", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "An extensive fluorescent in situ hybridization analysis showed the tumor to be negative for the t (4; 14) FGFR3/IGH translocation as well as translocations involving the IGH, IGL, IGK, CCND1, BCL2, BCL6 and C-MYC genes.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 192, "end": 196}], "disease": [{"text": "translocation", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Microarray gene profiling analysis showed that HRI was required for adaptive gene expression in erythroid precursors during chronic iron deficiency.", "output": {"entities": {"gene": [{"text": "HRI", "start": 47, "end": 50}], "disease": [{"text": "iron deficiency", "start": 132, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Male alcoholic suicide attempters, compared to male non-attempters, had the higher frequency of Met/Met genotype or Met allele, and significantly (Kruskal-Wallis ANOVA on ranks and Mann-Whitney test) higher aggression and depression scores.", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 162, "end": 167}], "disease": [{"text": "aggression", "start": 207, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.", "output": {"entities": {"gene": [{"text": "GPIIb", "start": 126, "end": 131}], "disease": [{"text": "glanzmann thrombasthenia", "start": 45, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPIIb", "start": 126, "end": 131}, "tail": {"text": "glanzmann thrombasthenia", "start": 45, "end": 69}}]}}, "schema": []}
{"input": "In 4% of cases, the IgH/BCL2 translocation was not detected by any of the two techniques tested.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 24, "end": 28}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Herein we reported the proliferation stimulating effect of RhoC and IQGAP1 on gastric cancer cells and the interaction between two proteins in regulating the proliferation of gastric cancer cells.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 59, "end": 63}], "disease": [{"text": "gastric cancer", "start": 78, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "PURPOSE: The aims of this study were (a) to locate the breakpoints of a balanced translocation (7; 13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation within FOXP2.", "output": {"entities": {"gene": [{"text": "FOXP2", "start": 308, "end": 313}], "disease": [{"text": "translocation", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In summary, our results show that topology of mutations predicts in part the behavior of mutant CBS, and that misfolding may be an important and frequent pathogenic mechanism in CBS deficiency.", "output": {"entities": {"gene": [{"text": "CBS", "start": 96, "end": 99}], "disease": [{"text": "CBS deficiency", "start": 178, "end": 192}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CBS", "start": 96, "end": 99}, "tail": {"text": "CBS deficiency", "start": 178, "end": 192}}]}}, "schema": []}
{"input": "The 43-kD transactive response (TAR)-DNA-binding protein (TARDBP) mutations have been demonstrated to be causative of sporadic and familial forms of amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 37, "end": 56}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 149, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Association between HTR2C and HTR2A polymorphisms and metabolic abnormalities in patients treated with olanzapine or clozapine.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 30, "end": 35}], "disease": [{"text": "abnormalities", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Here, we report the identification of FGFR3 mutations in 25/26 TD cases.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 38, "end": 43}], "disease": [{"text": "TD", "start": 63, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 38, "end": 43}, "tail": {"text": "TD", "start": 63, "end": 65}}]}}, "schema": []}
{"input": "The PAX5-FOXP1 translocation is a nonrandom aberration, which is recurrent in both childhood and in adult B-ALL, and may contribute to leukemogenesis by blocking differentiation of hematopoietic cells into mature B-cells.", "output": {"entities": {"gene": [{"text": "FOXP1", "start": 9, "end": 14}], "disease": [{"text": "B-ALL", "start": 106, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXP1", "start": 9, "end": 14}, "tail": {"text": "B-ALL", "start": 106, "end": 111}}]}}, "schema": []}
{"input": "We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B) which is defective in Wilson disease.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 100, "end": 105}], "disease": [{"text": "Wilson disease", "start": 129, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 100, "end": 105}, "tail": {"text": "Wilson disease", "start": 129, "end": 143}}]}}, "schema": []}
{"input": "Wild-type mice had fewer viral antigen-positive cells with greater inflammation in the CNS than CD1 (-/-) mice.", "output": {"entities": {"gene": [{"text": "CD1", "start": 96, "end": 99}], "disease": [{"text": "inflammation", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Because anti-estrogens reduced PTTG expression in human pituitary tumors in vitro and suppressed experimental tumor growth in vivo, concomitantly with reduced PRL secretion, these results indicate a role for selective antiestrogens in treating pituitary tumors.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 31, "end": 35}], "disease": [{"text": "experimental tumor", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "These studies suggest that protein nitration during hyperoxia may be mediated in part by MPO generated from activated phagocytic cells, and such protein modifications may contribute to hyperoxia-mediated lung injury.", "output": {"entities": {"gene": [{"text": "MPO", "start": 89, "end": 92}], "disease": [{"text": "hyperoxia", "start": 52, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The present study was conducted to see the role of NF-kappaB in virulent (Mycobacterium tuberculosis H37Rv) and avirulent (M. tuberculosis H37Ra) mycobacterial infection in THP-1 cells.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 51, "end": 60}], "disease": [{"text": "mycobacterial infection", "start": 146, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 13, "end": 17}], "disease": [{"text": "mitochondrial complex II deficiency", "start": 77, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHD", "start": 13, "end": 17}, "tail": {"text": "mitochondrial complex II deficiency", "start": 77, "end": 112}}]}}, "schema": []}
{"input": "A novel class of ncRNA-derived small RNAs, shown to be strongly induced during an early phase of learning in mouse, is also expressed in man, and at least one representative (SNORD85) was strongly down-regulated in schizophrenia synaptosomes.", "output": {"entities": {"gene": [{"text": "SNORD85", "start": 175, "end": 182}], "disease": [{"text": "schizophrenia", "start": 215, "end": 228}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SNORD85", "start": 175, "end": 182}, "tail": {"text": "schizophrenia", "start": 215, "end": 228}}]}}, "schema": []}
{"input": "We found no mutations in HESX1, PROP1, and POU1F1 genes and four polymorphisms in PROP1 gene which were in Hardy-Weinberg equilibrium and had similar allelic frequencies in craniopharyngioma and controls.", "output": {"entities": {"gene": [{"text": "HESX1", "start": 25, "end": 30}], "disease": [{"text": "craniopharyngioma", "start": 173, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Children with GNMT mutation have elevated liver transaminases, and Gnmt knockout mice develop liver injury, fibrosis, and HCC.", "output": {"entities": {"gene": [{"text": "Gnmt", "start": 67, "end": 71}], "disease": [{"text": "fibrosis", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: Stable knockdown of radixin significantly suppressed migration and invasion, but enhanced adhesion in SGC-7901 cells.", "output": {"entities": {"gene": [{"text": "radixin", "start": 29, "end": 36}], "disease": [{"text": "adhesion", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "TOP2A is overexpressed and is a therapeutic target for adrenocortical carcinoma.", "output": {"entities": {"gene": [{"text": "TOP2A", "start": 0, "end": 5}], "disease": [{"text": "adrenocortical carcinoma", "start": 55, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TOP2A", "start": 0, "end": 5}, "tail": {"text": "adrenocortical carcinoma", "start": 55, "end": 79}}]}}, "schema": []}
{"input": "This resulted in a reduction in the DNA binding activity of RARalpha/retinoid X receptor alpha (RXRalpha) heterodimer, the separation of RXRalpha from RARalpha and the translocation of RXRalpha from the nucleus to the cytoplasm.", "output": {"entities": {"gene": [{"text": "X receptor", "start": 78, "end": 88}], "disease": [{"text": "translocation", "start": 168, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Patients with Asn656 allele of LEPR gene have a different response than wild-type patients, and Lys656Lys patients have a significant decrease in weight, BMI, fat mass, waist circumference, systolic blood pressure and leptin levels.", "output": {"entities": {"gene": [{"text": "LEPR gene", "start": 31, "end": 40}], "disease": [{"text": "weight", "start": 146, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "All cases (n = 7) with the cytogenetic abnormality t (8; 21) (q22; q22) belonged to this group of IL-5 responders.", "output": {"entities": {"gene": [{"text": "IL-5", "start": 98, "end": 102}], "disease": [{"text": "cytogenetic abnormality", "start": 27, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The least understood form of the disease is neuronopathic OP [OP and infantile neuroaxonal dystrophy, MIM (Mendelian inheritance in man) 600329] which causes rapid neurodegeneration and death within the first year.", "output": {"entities": {"gene": [{"text": "MIM", "start": 102, "end": 105}], "disease": [{"text": "infantile neuroaxonal dystrophy", "start": 69, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Here we studied the expression of ARG2 in pancreatic ductal carcinoma (PDC) tissue clinicopathologically by examining over 200 cases of PDC.", "output": {"entities": {"gene": [{"text": "ARG2", "start": 34, "end": 38}], "disease": [{"text": "pancreatic ductal carcinoma", "start": 42, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARG2", "start": 34, "end": 38}, "tail": {"text": "pancreatic ductal carcinoma", "start": 42, "end": 69}}]}}, "schema": []}
{"input": "The combination of CRM1 and BRAF inhibition synergizes and induces melanoma regression in BRAF-mutant melanoma.", "output": {"entities": {"gene": [{"text": "CRM1", "start": 19, "end": 23}], "disease": [{"text": "regression", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Exon 5 is a functional domain of the PEN/MMAC1 gene, and therefore, abnormalities in this region may be important for loss of PTEN/MMAC1 gene function.", "output": {"entities": {"gene": [{"text": "PEN", "start": 37, "end": 40}], "disease": [{"text": "abnormalities", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that GA treatment of hypoxic DU-145 cells abolished the induction of HIF-1alpha protein in a time-dependent manner and decreased VEGF mRNA and its protein levels.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 145, "end": 149}], "disease": [{"text": "hypoxic", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Phosphatidylinositol 4, 5-biphosphate (PIP2)-induced vesicle movement depends on N-WASP and involves Nck, WIP, and Grb2.", "output": {"entities": {"gene": [{"text": "Grb2", "start": 115, "end": 119}], "disease": [{"text": "vesicle", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The aim of our study was to examine TGCT and testicular cancer cell lines for deletions and mutations of the p15 and p16 genes.", "output": {"entities": {"gene": [{"text": "p15", "start": 109, "end": 112}], "disease": [{"text": "testicular cancer", "start": 45, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Based on MRI measurements, several phases following IL-13Ralpha2-specific T-cell adoptive transfer could be distinguished, all of which correlated well with glioblastoma regression confirmed on histology.", "output": {"entities": {"gene": [{"text": "MRI", "start": 9, "end": 12}], "disease": [{"text": "glioblastoma", "start": 157, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Study indicate that NO and ADA may play an important role in the pathogenesis of MTX-induced oxidative spinal cord damage.", "output": {"entities": {"gene": [{"text": "ADA", "start": 27, "end": 30}], "disease": [{"text": "spinal cord", "start": 103, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADA", "start": 27, "end": 30}, "tail": {"text": "spinal cord", "start": 103, "end": 114}}]}}, "schema": []}
{"input": "Dkk3 belongs to a novel family of Dkk proteins, which have been shown to be potent inhibitors of the neurodevelopmental wingless (Wnt) signalling pathway, and is therefore a putative candidate for further investigation into the aetiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "Dkk3", "start": 0, "end": 4}], "disease": [{"text": "schizophrenia", "start": 241, "end": 254}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dkk3", "start": 0, "end": 4}, "tail": {"text": "schizophrenia", "start": 241, "end": 254}}]}}, "schema": []}
{"input": "To determine the identity and frequency of FUS gene mutations in a large cohort of Italian patients enriched in sporadic cases (SALS).", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 43, "end": 51}], "disease": [{"text": "sporadic", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We also identified affected individuals in two apparently dominant families, diagnosed with juvenile retinitis pigmentosa or dominant cone-rod dystrophy, respectively, who are heterozygous for a 12-bp AIPL1 deletion.", "output": {"entities": {"gene": [{"text": "AIPL1", "start": 201, "end": 206}], "disease": [{"text": "cone-rod dystrophy", "start": 134, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIPL1", "start": 201, "end": 206}, "tail": {"text": "cone-rod dystrophy", "start": 134, "end": 152}}]}}, "schema": []}
{"input": "We evaluated neuropeptide Y (NPY) receptor expression in 131 primary human brain tumors, including gliomas, embryonal tumors, meningiomas, and pituitary adenomas, by in vitro receptor autoradiography using the 125I-labeled NPY receptor ligand peptide YY in competition with NPY receptor subtype-selective analogs.", "output": {"entities": {"gene": [{"text": "peptide YY", "start": 243, "end": 253}], "disease": [{"text": "gliomas", "start": 99, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated BATF3, CCDC88B and CIITA-SOCS1 as new susceptibility genes for leprosy.", "output": {"entities": {"gene": [{"text": "BATF3", "start": 159, "end": 164}], "disease": [{"text": "leprosy", "start": 222, "end": 229}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BATF3", "start": 159, "end": 164}, "tail": {"text": "leprosy", "start": 222, "end": 229}}]}}, "schema": []}
{"input": "In a cohort of human liver samples histologically classified for non-alcoholic fatty liver disease, AKR1B10, SREBP1a and SREBP1 lipogenic target genes proved to be up-regulated in steatohepatitis, while PXR protein was reduced.", "output": {"entities": {"gene": [{"text": "AKR1B10", "start": 100, "end": 107}], "disease": [{"text": "non-alcoholic fatty liver disease", "start": 65, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Clonal foci with RER (+) phenotype were detected at similar frequencies in pre-cancereous PIN (16%, 5/31) as in associated carcinoma foci (22%, 37/172), but were detected in only one of the 26 non-dysplastic prostate tissues studied (4%).", "output": {"entities": {"gene": [{"text": "RER", "start": 17, "end": 20}], "disease": [{"text": "carcinoma", "start": 123, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis.", "output": {"entities": {"gene": [{"text": "RANK", "start": 14, "end": 18}], "disease": [{"text": "aggressive periodontitis", "start": 51, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous familial or sporadic GATA2 mutations cause a multifaceted disorder, encompassing susceptibility to infection, pulmonary dysfunction, autoimmunity, lymphoedema and malignancy.", "output": {"entities": {"gene": [{"text": "GATA2", "start": 34, "end": 39}], "disease": [{"text": "autoimmunity", "start": 146, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Here, we use RNAi technology to identify a novel oncogenic pathway that involves aberrant activation of the TYK2 tyrosine kinase and its downstream substrate, STAT1, which ultimately promotes T-ALL cell survival through the upregulation of BCL2 expression", "output": {"entities": {"gene": [{"text": "STAT1", "start": 159, "end": 164}], "disease": [{"text": "T-ALL", "start": 192, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT1", "start": 159, "end": 164}, "tail": {"text": "T-ALL", "start": 192, "end": 197}}]}}, "schema": []}
{"input": "The genotype and allele frequencies of the LEPR Gln223Arg polymorphism were significantly different between normal-weight and overweight plus obese groups (P = 0. 013 and 0. 009, respectively).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 43, "end": 47}], "disease": [{"text": "weight", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Our study revealed a critical role of SHP and REV-ERB & #945; in controlling rhythmic CHOP expression in alcoholic fatty liver.", "output": {"entities": {"gene": [{"text": "CHOP", "start": 86, "end": 90}], "disease": [{"text": "fatty liver", "start": 115, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHOP", "start": 86, "end": 90}, "tail": {"text": "fatty liver", "start": 115, "end": 126}}]}}, "schema": []}
{"input": "Individuals with HAA exhibited low interleukin (IL) 6 (p < 0. 05) and high IL-10 (p < 0. 05) levels compared with asymptomatic patients.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 75, "end": 80}], "disease": [{"text": "asymptomatic", "start": 114, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The identification of up-regulation and differential splicing of CD44 following p63 over-expression indicates roles in the regulation of adhesion, metastasis and the cancer stem cell phenotype.", "output": {"entities": {"gene": [{"text": "p63", "start": 80, "end": 83}], "disease": [{"text": "adhesion", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Only in exceptional circumstances do normal, non-neoplastic T cell populations express the CD4-CD8-or the CD4 + CD8 + phenotype and/or lack one or more pan-T cell antigens.", "output": {"entities": {"gene": [{"text": "CD4", "start": 91, "end": 94}], "disease": [{"text": "non-neoplastic", "start": 45, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Influence of common variants near INSIG2, in FTO, and near MC4R genes on overweight and the metabolic profile in adolescence: the TRAILS (TRacking Adolescents' Individual Lives Survey) Study.", "output": {"entities": {"gene": [{"text": "FTO", "start": 45, "end": 48}], "disease": [{"text": "overweight", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Since EMT is critical for tumor progression, identification of the molecular mechanisms involved should elucidate novel therapeutic targets.", "output": {"entities": {"gene": [{"text": "EMT", "start": 6, "end": 9}], "disease": [{"text": "tumor progression", "start": 26, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The phenotype of renal agenesis/dysgenesis strongly indicates the existence of KAL1 gene defects in the genotype of patients with sporadic KS, providing evidence for the X-linked mode of inheritance and offering the opportunity for genetic counseling.", "output": {"entities": {"gene": [{"text": "KAL1 gene", "start": 79, "end": 88}], "disease": [{"text": "sporadic", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that extracellular S1P signaling via its receptors is not involved in adenoma cell proliferation.", "output": {"entities": {"gene": [{"text": "S1P", "start": 38, "end": 41}], "disease": [{"text": "adenoma", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Together, our data indicate that p33ING1b may be an important marker and/or therapeutic target in the prevention and treatment of metastatic osteosarcoma.", "output": {"entities": {"gene": [{"text": "p33ING1b", "start": 33, "end": 41}], "disease": [{"text": "metastatic osteosarcoma", "start": 130, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Antisense Bcl-2-mediated cytotoxicity was associated with the induction of the B cell translocation gene 1 (BTG1).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 10, "end": 15}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The gene for NAGLU has been fully characterized and we report the molecular analysis of 18 Sanfilippo B families.", "output": {"entities": {"gene": [{"text": "NAGLU", "start": 13, "end": 18}], "disease": [{"text": "Sanfilippo B", "start": 91, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NAGLU", "start": 13, "end": 18}, "tail": {"text": "Sanfilippo B", "start": 91, "end": 103}}]}}, "schema": []}
{"input": "The cell death induced by serum starvation and conditioned media was inhibited by 70%, in the presence of neutralizing tumour necrosis factor alpha (TNF-alpha) antibody.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 149, "end": 158}], "disease": [{"text": "starvation", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Tumors were MYCN non-amplified, with 2p copy gain consistent with the germline translocation.", "output": {"entities": {"gene": [{"text": "MYCN", "start": 12, "end": 16}], "disease": [{"text": "translocation", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We integrated the RNA-Seq results with DNA-binding sites of BRD4 generated by chromatin immunoprecipitations, correlated these with gene expressions from human prostate cancers and identified 21 top BRD4 candidate genes among which the oxidative stress pathway genes KEAP1, SESN3 and HDAC6 are represented.", "output": {"entities": {"gene": [{"text": "SESN3", "start": 274, "end": 279}], "disease": [{"text": "prostate cancers", "start": 160, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SESN3", "start": 274, "end": 279}, "tail": {"text": "prostate cancers", "start": 160, "end": 176}}]}}, "schema": []}
{"input": "Targeted exome sequencing using the IMPACT assay was used to address whether the presence of gene fusions is mutually exclusive from TSC gene abnormalities.", "output": {"entities": {"gene": [{"text": "IMPACT", "start": 36, "end": 42}], "disease": [{"text": "abnormalities", "start": 142, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.", "output": {"entities": {"gene": [{"text": "ELOVL4", "start": 49, "end": 55}], "disease": [{"text": "spinocerebellar ataxia and erythrokeratodermia", "start": 130, "end": 176}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ELOVL4", "start": 49, "end": 55}, "tail": {"text": "spinocerebellar ataxia and erythrokeratodermia", "start": 130, "end": 176}}]}}, "schema": []}
{"input": "Protein and mRNA levels of Hh signaling pathway components (sonic hedgehog [Shh], protein patched homolog 1 [Ptch 1], GLI family zinc finger 1 [Gli 1] and suppressor of fused homolog [Drosophila] [Sufu]) in 127 patients with colon cancer, 36 with melanosis coli and 20 adjacent normal mucosal tissues taken from surgical specimens were evaluated using antibody staining and quantitative real-time polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 60, "end": 74}], "disease": [{"text": "colon cancer", "start": 225, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "This translocation creates the API2-MALT1 fusion oncoprotein, which comprises the amino terminus of inhibitor of apoptosis 2 (API2 or cIAP2) fused to the carboxy terminus of MALT1.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 36, "end": 41}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "After adjustments for other risk factors, such as age, gender, drinking history and family history of cancer, the interactions between the HSP70-1 and HSP70-hom genotypes and smoking were confirmed [I (AB), 2. 56 and 5. 12, respectively].", "output": {"entities": {"gene": [{"text": "HSP70-hom", "start": 151, "end": 160}], "disease": [{"text": "smoking", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "In the current work we have explored the effect of NTN4/ITGB4 interaction on TMZ induced glioblastoma cell senescence.", "output": {"entities": {"gene": [{"text": "NTN4", "start": 51, "end": 55}], "disease": [{"text": "glioblastoma", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "As an intervention with ER stress responses in the intestinal cancer cells, preventive exposure to flavone apigenin potentiated superinduction of a regulatory transcription factor, activating transcription factor 3 (ATF3), which is also known to be an integral player coordinating ER stress response-related gene expression.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 216, "end": 220}], "disease": [{"text": "intestinal cancer", "start": 51, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Wilson disease patients from a homogeneous ethnical background (Saxonia) were studied for distribution and phenotypes of ATP7B mutations.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 121, "end": 126}], "disease": [{"text": "Wilson disease", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 121, "end": 126}, "tail": {"text": "Wilson disease", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "Intermittent parathyroid hormone (PTH) treatment stimulates bone remodeling and increases bone density in healthy subjects.", "output": {"entities": {"gene": [{"text": "PTH", "start": 34, "end": 37}], "disease": [{"text": "bone density", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Genes such as DSCR1 that are duplicated in Down syndrome might not play an important role in tumorigenesis of epithelial ovarian cancer.", "output": {"entities": {"gene": [{"text": "DSCR1", "start": 14, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the role of low-level p53 overexpression in warfarin-induced porcine AVIC (pAVIC) calcification.", "output": {"entities": {"gene": [{"text": "p53", "start": 53, "end": 56}], "disease": [{"text": "calcification", "start": 113, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p53", "start": 53, "end": 56}, "tail": {"text": "calcification", "start": 113, "end": 126}}]}}, "schema": []}
{"input": "Bisulfite pyrosequencing was used to quantify the methylation of 14 CpG island promoters (MINT25, RORA, GDNF, CDH1, RARAB2, ER, CDH13, MYOD1, SFRP1, P2RX7, SLC16A12, IGF2, DPYS, and N33) and LINE1 from 72 patients with gastric cancer, 67 control, and 52 healthy young individuals.", "output": {"entities": {"gene": [{"text": "DPYS", "start": 172, "end": 176}], "disease": [{"text": "gastric cancer", "start": 219, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Though it is known that dorsal root ganglia (DRG) sensory neurons exposed to HMGB1 and TLR4 agonists can influence excitation, the degree to which at-HMGB1 signaling through neuronal RAGE contributes to neuropathic pain is unknown.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 77, "end": 82}], "disease": [{"text": "neuropathic pain", "start": 203, "end": 219}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGB1", "start": 77, "end": 82}, "tail": {"text": "neuropathic pain", "start": 203, "end": 219}}]}}, "schema": []}
{"input": "The variables significantly associated with SVR in a multivariate analysis were HCV-genotype (GT) 3 {adjusted odds ratio [aOR] = 7. 66 [95% of confidence interval (95% CI): 3. 96 to 14. 81] P < 0. 001}, HCV-viremia < 500, 000 IU/mL [aOR = 2. 20 (95% CI: 1. 16 to 4. 15] P = 0. 015), no/mild liver fibrosis (F < 2) [aOR = 1. 92 (95% CI: 1. 08 to 3. 42) P = 0. 026], IL28B rs12980275 AA genotype [aOR = 2. 70 (95% CI: 1. 54 to 4. 71) P < 0. 001], and PPARγ2 rs1801282 CG/GG genotype [aOR = 2. 93 (95% CI: 1. 27 to 6. 72) P = 0. 011].", "output": {"entities": {"gene": [{"text": "IL28B", "start": 365, "end": 370}], "disease": [{"text": "mild", "start": 286, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "AdipoR1 and AdipoR2 mRNAs were increased in monocytes of obese controls and T2D patients when compared to normal-weight controls, and AdipoR1 mRNA positively correlated to AdipoR2 mRNA, the waist to hip ratio and systemic adiponectin.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 12, "end": 19}], "disease": [{"text": "weight", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Similarly, in virtually all xenograft tumours of the M059K, M006 and M010b lines, VEGF ISH showed similar staining across all regions of healthy cells up to the border of necrosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 82, "end": 86}], "disease": [{"text": "necrosis", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We also proved that HIF1 can promote osteosarcoma invasion in hypoxia by inducing VEGF-A expression.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 82, "end": 88}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Median pituitary height at first MRI was 4. 7 mm (range 1. 0-20. 7) and median volume was 127. 6 mm (3) (range 7. 5-3, 087. 0).", "output": {"entities": {"gene": [{"text": "MRI", "start": 33, "end": 36}], "disease": [{"text": "height", "start": 17, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this article is to further characterize the mutation spectrum of SCCD and identify structural and functional consequences for UBIAD1 protein activity.", "output": {"entities": {"gene": [{"text": "UBIAD1", "start": 141, "end": 147}], "disease": [{"text": "SCCD", "start": 80, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBIAD1", "start": 141, "end": 147}, "tail": {"text": "SCCD", "start": 80, "end": 84}}]}}, "schema": []}
{"input": "and 58 asymptomatic) and 150 healthy control subjects were examined for TLR4 Asp299Gly and Thr399Ile polymorphisms by means of polymerase chain reaction and restriction fragment-length polymorphism.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 72, "end": 76}], "disease": [{"text": "asymptomatic", "start": 7, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Conversely, conditional gene-targeted Hand2 mice demonstrated a marked resistance to pressure-overload-induced hypertrophy, fibrosis, ventricular dysfunction and induction of a fetal gene program.", "output": {"entities": {"gene": [{"text": "Hand2", "start": 38, "end": 43}], "disease": [{"text": "hypertrophy", "start": 111, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In this review, we discuss the underlying cellular and molecular mechanisms of the anabolic actions of PTH and the similar potential of PTH-related protein (PTHrP) to increase bone mass and improve bone regeneration.", "output": {"entities": {"gene": [{"text": "PTH", "start": 103, "end": 106}], "disease": [{"text": "bone mass", "start": 176, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "miR-135b coordinates progression of ErbB2-driven mammary carcinomas through suppression of MID1 and MTCH2.", "output": {"entities": {"gene": [{"text": "MTCH2", "start": 100, "end": 105}], "disease": [{"text": "carcinomas", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Recently, a specific chromosome abnormality, t (X; 1) (p11; q21), was described for a subgroup of human papillary renal cell carcinomas.", "output": {"entities": {"gene": [{"text": "p11", "start": 55, "end": 58}], "disease": [{"text": "chromosome abnormality", "start": 21, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The previously described bladder carcinoma TSU-Pr1 (T24) progression series of cell lines selected in vivo for increasing metastatic ability following systemic seeding was used in this study.", "output": {"entities": {"gene": [{"text": "Pr1", "start": 47, "end": 50}], "disease": [{"text": "bladder carcinoma", "start": 25, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "We conclude that expression changes in mitotic arrest deficiency genes (MAD1, MAD2L1, and MAD2L2) play a role in renal carcinogenesis characterized by multiple numerical chromosome abnormalities.", "output": {"entities": {"gene": [{"text": "MAD2L1", "start": 78, "end": 84}], "disease": [{"text": "chromosome abnormalities", "start": 170, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Moyamoya disease (MMD) is an uncommon cerebrovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches.", "output": {"entities": {"gene": [{"text": "MMD", "start": 18, "end": 21}], "disease": [{"text": "cerebrovascular disease", "start": 38, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In a genome-wide association scan, the rs738409 C > G single nucleotide polymorphism (SNP) in the patatin-like phospholipase 3 gene (PNPLA3) was strongly associated with increased liver fat but not with insulin resistance estimated from fasting values.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 133, "end": 139}], "disease": [{"text": "insulin resistance", "start": 203, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Thus, TMEM106B is an FTLD-TDP risk gene, with microRNA-132/212 depression as an event which can lead to aberrant overexpression of TMEM106B, which in turn alters progranulin pathways.", "output": {"entities": {"gene": [{"text": "progranulin", "start": 162, "end": 173}], "disease": [{"text": "depression", "start": 63, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "progranulin", "start": 162, "end": 173}, "tail": {"text": "depression", "start": 63, "end": 73}}]}}, "schema": []}
{"input": "It has been reported that the expression of CUL4A can be induced by hypoxic-ischemic injury.", "output": {"entities": {"gene": [{"text": "CUL4A", "start": 44, "end": 49}], "disease": [{"text": "hypoxic", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "XBS may prove helpful in the management of asthma, various allergic disorders, sepsis, or any other condition associated with pulmonary inflammation.", "output": {"entities": {"gene": [{"text": "XBS", "start": 0, "end": 3}], "disease": [{"text": "allergic disorders", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The rate of pregnancies ending in unexplained fetal loss, early miscarriage, late miscarriage or stillbirth in women with the factor V Leiden was compared with that of women with normal genotype.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 126, "end": 141}], "disease": [{"text": "stillbirth", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "COX 2 inhibition induced a pro-thrombotic effect that was antagonized by aspirin at 1 mg/kg or 100 mg/kg.", "output": {"entities": {"gene": [{"text": "COX 2", "start": 0, "end": 5}], "disease": [{"text": "thrombotic", "start": 31, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX 2", "start": 0, "end": 5}, "tail": {"text": "thrombotic", "start": 31, "end": 41}}]}}, "schema": []}
{"input": "Thirty-six patients with small-cell lung carcinoma (SCLC) were enrolled onto a three-arm, randomized trial to investigate the effect of r-Hu-EPO on hemoglobin (Hb) levels and RBC and platelet (Plt) transfusions during chemotherapy.", "output": {"entities": {"gene": [{"text": "EPO", "start": 141, "end": 144}], "disease": [{"text": "hemoglobin", "start": 148, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "We have shown previously that the putative prostate carcinoma cell lines TSU-Pr1 and JCA-1 share a common origin.", "output": {"entities": {"gene": [{"text": "Pr1", "start": 77, "end": 80}], "disease": [{"text": "prostate carcinoma", "start": 43, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "PLD-induced HIF-1 activation led to the secretion of vascular endothelial growth factor (VEGF), a HIF-1 target gene involved in tumorigenesis.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 12, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Using PC-3 and DU145 human prostate cancer cells, we analyzed the role of SAPKs in IL-6 mediated cell growth and found that the p38MAPK and JNK are involved in androgen-independent cancer cell growth.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 83, "end": 87}], "disease": [{"text": "prostate cancer", "start": 27, "end": 42}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-6", "start": 83, "end": 87}, "tail": {"text": "prostate cancer", "start": 27, "end": 42}}]}}, "schema": []}
{"input": "In one family with OSMED, a homozygous Gly--& gt; Arg substitution has been described in COL11A2, which codes for the alpha2 chain of type XI collagen.", "output": {"entities": {"gene": [{"text": "COL11A2", "start": 89, "end": 96}], "disease": [{"text": "OSMED", "start": 19, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL11A2", "start": 89, "end": 96}, "tail": {"text": "OSMED", "start": 19, "end": 24}}]}}, "schema": []}
{"input": "In conclusion, IKZF5 is a novel transcriptional regulator of megakaryopoiesis and the eighth transcription factor associated with dominant thrombocytopenia in humans.", "output": {"entities": {"gene": [{"text": "IKZF5", "start": 15, "end": 20}], "disease": [{"text": "thrombocytopenia", "start": 139, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IKZF5", "start": 15, "end": 20}, "tail": {"text": "thrombocytopenia", "start": 139, "end": 155}}]}}, "schema": []}
{"input": "We used phosphorus magnetic resonance spectroscopy to establish whether two of these' secondary' LHON mtDNA mutations, 4216/ND1 and 13708/ND5 (haplogroup J), further affect in vivo mitochondrial oxidative metabolism in subjects with the' primary' 11778/ND4 mtDNA mutation.", "output": {"entities": {"gene": [{"text": "ND4", "start": 253, "end": 256}], "disease": [{"text": "secondary", "start": 86, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Addiction of pancreatic cancer cells to zinc-finger transcription factor ZIC2.", "output": {"entities": {"gene": [{"text": "ZIC2", "start": 73, "end": 77}], "disease": [{"text": "pancreatic cancer", "start": 13, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs.", "output": {"entities": {"gene": [{"text": "DENN", "start": 100, "end": 104}], "disease": [{"text": "neurodegeneration", "start": 54, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "A decrease in MMP-to-TIMP expression in scar tissue may contribute to increased synthesis and deposition of collagen, leading to a severe fibrotic reaction with pathologic scar formation.", "output": {"entities": {"gene": [{"text": "TIMP", "start": 21, "end": 25}], "disease": [{"text": "scar", "start": 40, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Pulmonary alveolar proteinosis (PAP) is a rare disorder in which surfactant homeostasis in the lung is impaired, causing respiratory distress and, in severe cases, respiratory failure.", "output": {"entities": {"gene": [{"text": "PAP", "start": 32, "end": 35}], "disease": [{"text": "respiratory distress", "start": 121, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the regulation of RKIP and STAT3 after treatment with clinically relevant chemotherapeutic agents (camptothecin (CPT) and oxaliplatin (OXP)) and the cytokine interleukin-6 (IL-6) in HCT116 colon cancer cells as well as evaluate the association between RKIP and STAT3 with clinical outcome of Stage II colon cancer patients.", "output": {"entities": {"gene": [{"text": "RKIP", "start": 56, "end": 60}], "disease": [{"text": "colon cancer", "start": 227, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "We here show that the Elmo1 hypermorphs have albuminuria, glomerulosclerosis, and changes in the ultrastructure of the glomerular basement membrane that increase in severity in parallel with the expression of Elmo 1.", "output": {"entities": {"gene": [{"text": "Elmo1", "start": 22, "end": 27}], "disease": [{"text": "albuminuria", "start": 45, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We investigated the associations of the three LEPR polymorphisms (Lys109Arg, Gln223Arg, 3' UTR Del/Ins) with the conversion to type 2 diabetes and the changes in body weight in 507 individuals with IGT participating in the Finnish Diabetes Prevention Study.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 46, "end": 50}], "disease": [{"text": "body weight", "start": 162, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We used immunoblotting techniques and postmortem tissue samples from patients with schizophrenia and from normal control individuals to examine the expression of two major DARPP-32 isoforms, full-length (FL-DARPP) and truncated (t-DARPP), and of CaN in the striatum.", "output": {"entities": {"gene": [{"text": "DARPP-32", "start": 172, "end": 180}], "disease": [{"text": "schizophrenia", "start": 83, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DARPP-32", "start": 172, "end": 180}, "tail": {"text": "schizophrenia", "start": 83, "end": 96}}]}}, "schema": []}
{"input": "Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 105, "end": 109}], "disease": [{"text": "genomic instability", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "This study was purposed to explore the feasibility of simultaneous analysis of telomere length and cell surface antigen by multicolor Flow-FISH to assess minimal residual disease (MRD) in leukemia.", "output": {"entities": {"gene": [{"text": "FISH", "start": 139, "end": 143}], "disease": [{"text": "leukemia", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We conducted a prospective case-control study, comparing 195 patients presenting with DTC that were previously genotyped for GSTT1, GSTM1, GSTP1, and CYP1A1, comprising 164 papillary carcinomas and 31 follicular carcinomas, with 196 control individuals paired for gender, age, ethnicity, diet routine, lifetime occupational history, smoking history, general health conditions, and previous diseases.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 132, "end": 137}], "disease": [{"text": "carcinomas", "start": 183, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Among 52 tumors assayed for BCL2 rearrangements using the MBR, MCR, and 5' probes, seven (six with MBR and one with MCR translocation breaks) showed aberrant bands in unique enzyme digests of DNA hybridized with the 5' probe.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 28, "end": 32}], "disease": [{"text": "translocation", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Neither t (11; 18) (q21; q21), nor t (1; 14) (p22; q32) or any other translocation involving IGH, BCL10, MALT1, BCL2 and API2, amplification or deletion of chromosomal region 11q21, 18q21, 1p22, and 14q32 was detected.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 105, "end": 110}], "disease": [{"text": "translocation", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Multiple cellular and molecular events were involved in the manifestation of brain defects due primarily to the lack of ogg1.", "output": {"entities": {"gene": [{"text": "ogg1", "start": 120, "end": 124}], "disease": [{"text": "brain", "start": 77, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ogg1", "start": 120, "end": 124}, "tail": {"text": "brain", "start": 77, "end": 82}}]}}, "schema": []}
{"input": "Conversely, antagonism of miR-34a in diet-induced obese mice restored NAMPT/NAD (+) levels and alleviated steatosis, inflammation, and glucose intolerance.", "output": {"entities": {"gene": [{"text": "miR-34a", "start": 26, "end": 33}], "disease": [{"text": "inflammation", "start": 117, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-34a", "start": 26, "end": 33}, "tail": {"text": "inflammation", "start": 117, "end": 129}}]}}, "schema": []}
{"input": "The parental mutant H-Ras-modified astrocytes expressed four times more endogenous VEGF than normal human astrocytes, but on intracranial implantation formed hypovascular, hypoxic, small AA-like tumors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 83, "end": 87}], "disease": [{"text": "hypoxic", "start": 172, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We have provided a 20-year follow-up of a syndrome characterized by craniofacial anomalies, hearing loss and hand deformities and which is caused by a PAX3 missense mutation.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 151, "end": 155}], "disease": [{"text": "craniofacial anomalies", "start": 68, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAX3", "start": 151, "end": 155}, "tail": {"text": "craniofacial anomalies", "start": 68, "end": 90}}]}}, "schema": []}
{"input": "CARASIL is associated with mutations in the HTRA1 gene.", "output": {"entities": {"gene": [{"text": "HTRA1", "start": 44, "end": 49}], "disease": [{"text": "CARASIL", "start": 0, "end": 7}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HTRA1", "start": 44, "end": 49}, "tail": {"text": "CARASIL", "start": 0, "end": 7}}]}}, "schema": []}
{"input": "The induction of HSP70 protein in hippocampus following increasing durations of global ischemia correlates with the regional and cellular vulnerability to ischemia: CA1 neurons express HSP70 after the briefest periods of ischemia followed by CA4, CA3, dentate granule neurons, glia, and lastly, endothelial cells.", "output": {"entities": {"gene": [{"text": "CA3", "start": 247, "end": 250}], "disease": [{"text": "ischemia", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We describe a novel homozygous mutation, 1191insC, in SLC39A4 in a patient from Sierra Leone and suggest that AE should be considered within the differential diagnosis for acrodermatitis in children from Sierra Leone.", "output": {"entities": {"gene": [{"text": "SLC39A4", "start": 54, "end": 61}], "disease": [{"text": "AE", "start": 110, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC39A4", "start": 54, "end": 61}, "tail": {"text": "AE", "start": 110, "end": 112}}]}}, "schema": []}
{"input": "Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities.", "output": {"entities": {"gene": [{"text": "CDT1", "start": 31, "end": 35}], "disease": [{"text": "Meier-Gorlin syndrome", "start": 122, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDT1", "start": 31, "end": 35}, "tail": {"text": "Meier-Gorlin syndrome", "start": 122, "end": 143}}]}}, "schema": []}
{"input": "The X-linked bleeding disorder hemophilia A is caused by mutations in the coagulation factor VIII gene.", "output": {"entities": {"gene": [{"text": "coagulation factor VIII", "start": 74, "end": 97}], "disease": [{"text": "hemophilia A", "start": 31, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor VIII", "start": 74, "end": 97}, "tail": {"text": "hemophilia A", "start": 31, "end": 43}}]}}, "schema": []}
{"input": "Like BRCA1 and BRCA2 mutant breast cancers, these tumors were defective in RAD51 focus formation, reflecting a defect in Palb2 HR-DSBR function, a strongly suspected contributor to Brca1, Brca2, and Palb2 mammary tumor development.", "output": {"entities": {"gene": [{"text": "Brca2", "start": 188, "end": 193}], "disease": [{"text": "mammary tumor", "start": 205, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "To examine the predictive role of HLA genetic markers in scleroderma renal crisis (SRC), beyond the known clinical correlates, in a large population of patients with systemic sclerosis (SSc).", "output": {"entities": {"gene": [{"text": "SRC", "start": 83, "end": 86}], "disease": [{"text": "systemic sclerosis", "start": 166, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "The involvement of nitric oxide in the gastroprotective effect of ACEA (arachidonyl-2-chloroethylamide), a selective cannabinoid CB1 receptor agonist, on aspirin-induced gastric ulceration was studied in rats.", "output": {"entities": {"gene": [{"text": "CB1 receptor", "start": 129, "end": 141}], "disease": [{"text": "gastric ulceration", "start": 170, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Here we found a significant association between the GAB2 gene and morphological brain differences in 755 young adult twins (469 females) (M = 23. 1, SD = 3. 1 years), using a gene-based test with principal components regression (PCReg).", "output": {"entities": {"gene": [{"text": "GAB2 gene", "start": 52, "end": 61}], "disease": [{"text": "regression", "start": 217, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Protein kinase D1, PKD1, is a novel serine/threonine kinase whose altered expression and dysregulation in many tumors as well as its activation by several mitogens suggest that this protein could regulate proliferation and tumorigenesis.", "output": {"entities": {"gene": [{"text": "PKD1", "start": 19, "end": 23}], "disease": [{"text": "tumorigenesis", "start": 223, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Targeting oncogenic HH/GLI signaling with small molecule inhibitors of the essential pathway effector Smoothened (SMO) has shown remarkable therapeutic effects in patients with advanced and metastatic basal cell carcinoma.", "output": {"entities": {"gene": [{"text": "GLI", "start": 23, "end": 26}], "disease": [{"text": "metastatic basal cell carcinoma", "start": 190, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Similarly, inhibition of c-Src activity by PP2 blocked both EGF-induced translocation of SphK1 and PKCdelta to the plasma membrane and up-regulation of PAI-1 expression.", "output": {"entities": {"gene": [{"text": "SphK1", "start": 89, "end": 94}], "disease": [{"text": "translocation", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, Th1 transcription factor T-box21 small interfering RNAs conjugated to cationized gelatin showed mitigating effects on alopecia in C3H/HeJ mice, resulting in the restoration of hair shaft elongation.", "output": {"entities": {"gene": [{"text": "transcription factor T", "start": 17, "end": 39}], "disease": [{"text": "alopecia", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In mice the targeted disruption of ACE2 resulted in increased systemic angiotensin II levels, impaired cardiac contractility, and upregulation of hypoxia-induced genes in the heart.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 35, "end": 39}], "disease": [{"text": "hypoxia", "start": 146, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of rRNA synthetic activity caused either by nutritional starvation or by actinomycin D treatment resulted in a marked decrease in the number and in a significant increase in the size of UBF-positive granules.", "output": {"entities": {"gene": [{"text": "UBF", "start": 197, "end": 200}], "disease": [{"text": "starvation", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The objective was to assess the incremental cost-effectiveness per life-month gained of thiopurine methyltransferase (TPMT) genotyping to guide doses of 6-mercaptopurine (6-MP) in children with acute lymphoblastic leukemia (ALL) compared to enzymatic testing and standard weight-based dosing.", "output": {"entities": {"gene": [{"text": "TPMT", "start": 118, "end": 122}], "disease": [{"text": "weight", "start": 272, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "The RUNX1/ETO (RE) fusion protein, which originates from the t (8; 21) chromosomal rearrangement, is one of the most frequent translocation products found in de novo acute myeloid leukemia (AML).", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 4, "end": 9}], "disease": [{"text": "translocation", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "None of the analyzed samples revealed a translocation t (14; 18) (q32; q21) in the bcl-2 gene.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 83, "end": 93}], "disease": [{"text": "translocation", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "TRF length decreased with a progression of chronic liver diseases and that in HCC was significantly shorter than that in other chronic liver diseases (p < 0. 05).", "output": {"entities": {"gene": [{"text": "HCC", "start": 78, "end": 81}], "disease": [{"text": "liver diseases", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that, although there are metabolic impairments in PD, the levels of MCT1, MCT2 and GLUT1 is not changed following dopaminergic neurodegeneration.", "output": {"entities": {"gene": [{"text": "MCT2", "start": 94, "end": 98}], "disease": [{"text": "neurodegeneration", "start": 147, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "These data imply that endogenous CNTF plays a pivotal role for the structural maintenance of hippocampal functions and thus has an important impact on the modulation of affective behavior in rodent models of anxiety and depression.", "output": {"entities": {"gene": [{"text": "CNTF", "start": 33, "end": 37}], "disease": [{"text": "depression", "start": 220, "end": 230}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNTF", "start": 33, "end": 37}, "tail": {"text": "depression", "start": 220, "end": 230}}]}}, "schema": []}
{"input": "Bcl-2 and MALT1 genes are located at or near the translocation breakpoints, and the aim of this study was to determine whether these genes were involved in chromosomal translocation or tumorigenesis.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 10, "end": 15}], "disease": [{"text": "chromosomal translocation", "start": 156, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "The seizures occurred following the suppression of infantile spasms with adrenocorticotropic hormone therapy and disappeared following the cessation of clonazepam administration.", "output": {"entities": {"gene": [{"text": "adrenocorticotropic hormone", "start": 73, "end": 100}], "disease": [{"text": "seizures", "start": 4, "end": 12}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "adrenocorticotropic hormone", "start": 73, "end": 100}, "tail": {"text": "seizures", "start": 4, "end": 12}}]}}, "schema": []}
{"input": "We also report a sixth family in which a recurrent TPM3 mutation (p. Arg168His) was associated with histological features of CFTD and nemaline myopathy in different family members.", "output": {"entities": {"gene": [{"text": "TPM3", "start": 51, "end": 55}], "disease": [{"text": "CFTD", "start": 125, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPM3", "start": 51, "end": 55}, "tail": {"text": "CFTD", "start": 125, "end": 129}}]}}, "schema": []}
{"input": "Moreover, knockdown of ASK1 or inhibition of the ASK1/MKK4 cascade effectively inhibited cell death following neuronal ischemia.", "output": {"entities": {"gene": [{"text": "MKK4", "start": 54, "end": 58}], "disease": [{"text": "ischemia", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to examine the mutations of the three common deafness genes GJB2, SLC26A4, and mtDNA A1555G in Chinese sporadic outpatients with NSHL and to discuss the factors that influence the detection accuracy of mutation frequencies.", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 83, "end": 90}], "disease": [{"text": "sporadic", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Pure autosomal dominant spastic paraplegia (SPG) is a genetically heterogeneous neurodegenerative disorder of the central nervous system clinically characterized by progressive spasticity mainly affecting the lower limbs.", "output": {"entities": {"gene": [{"text": "SPG", "start": 44, "end": 47}], "disease": [{"text": "autosomal dominant spastic paraplegia", "start": 5, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "] = 14. 19), ADHD and CD (LOD = 5. 34), ODD and CD (LOD = 6. 68), and CD and alcohol abuse/dependence (LOD = 3. 98).", "output": {"entities": {"gene": [{"text": "ODD", "start": 40, "end": 43}], "disease": [{"text": "alcohol abuse", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Although rearranged MYC/8q24 (R8q24) is characteristic of Burkitt lymphoma (BL), little information is available on other cytogenetic abnormalities and their prognostic importance.", "output": {"entities": {"gene": [{"text": "MYC", "start": 20, "end": 23}], "disease": [{"text": "cytogenetic abnormalities", "start": 122, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "It has been suggested that the loss of tight junction function is related to tumor differentiation, but little is known about the roles of major proteins, such as claudin 4 and ZO-1, in gastric cancer.", "output": {"entities": {"gene": [{"text": "ZO-1", "start": 177, "end": 181}], "disease": [{"text": "gastric cancer", "start": 186, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the DNA mismatch repair (MMR) gene hMLH1 have recently been linked to the development of some hereditary and sporadic cancers which frequently display widespread microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 38, "end": 41}], "disease": [{"text": "microsatellite instability", "start": 175, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.", "output": {"entities": {"gene": [{"text": "PCDH21", "start": 13, "end": 19}], "disease": [{"text": "cone-rod dystrophy", "start": 46, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCDH21", "start": 13, "end": 19}, "tail": {"text": "cone-rod dystrophy", "start": 46, "end": 64}}]}}, "schema": []}
{"input": "Using in vitro assays, we show that platelet-derived growth factor alpha (PDGFA) enhances medulloblastoma migration and increases downstream MAP2K1 (MEK1), MAP2K2 (MEK2), MAPK1 (p42 MAPK) and MAPK3 (p44 MAPK) phosphorylation in a dose-dependent manner.", "output": {"entities": {"gene": [{"text": "PDGFA", "start": 74, "end": 79}], "disease": [{"text": "medulloblastoma", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Angiogenic factors such as VEGFR2 (vascular endothelial cell growth factor receptor 2), Bcl-2 (a prosurvival and proangiogenic signaling molecule), and chemokine (C-X-C motif) ligand 1 (CXCL1) (a proangiogenic chemokine) may have critical roles in enhancing the establishment of apical periodontitis.", "output": {"entities": {"gene": [{"text": "CXCL1", "start": 186, "end": 191}], "disease": [{"text": "apical periodontitis", "start": 279, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "In a few patients, KCNJ11 mutations cause a triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome).", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 19, "end": 25}], "disease": [{"text": "developmental delay, epilepsy, and neonatal diabetes", "start": 53, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ11", "start": 19, "end": 25}, "tail": {"text": "developmental delay, epilepsy, and neonatal diabetes", "start": 53, "end": 105}}]}}, "schema": []}
{"input": "Kaplan-Meier analysis and Cox proportional hazards regression modeling were used to assess the mortality risk associated with the presence or absence of tumor SPARC and peritumoral SPARC status.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 159, "end": 164}], "disease": [{"text": "regression", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The bcl-2 oncogene is activated as a consequence of the t (14; 18) chromosomal translocation in human follicular lymphomas.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 4, "end": 9}], "disease": [{"text": "chromosomal translocation", "start": 67, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "HNPCC tumors are characterized by microsatellite instability (MSI) due to a defect in mismatch repair (MMR) and carry somatic frameshift mutations in mononucleotide repeats within the coding regions of key genes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 103, "end": 106}], "disease": [{"text": "microsatellite instability", "start": 34, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "YC-1 inhibits HIF-1alpha expression in hypoxic pancreatic cancer cells, which is accompanied by the translocation of HIF-1alpha from nucleus to cytoplasm, decreased mRNA expression of VEGF and GPI, reduced cell proliferative vitality, and increased apoptosis.", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 14, "end": 24}], "disease": [{"text": "translocation", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Our interest was to test polymorphisms of IL-18 for association with a typical TH1-mediated disease--juvenile idiopathic arthritis--and the TH2-mediated disease bronchial asthma in Caucasian children.", "output": {"entities": {"gene": [{"text": "TH1", "start": 79, "end": 82}], "disease": [{"text": "bronchial asthma", "start": 161, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The expressions of AGK protein and mRNA were significantly up-regulated in cervical cancer cell lines and cancer tissues.", "output": {"entities": {"gene": [{"text": "AGK", "start": 19, "end": 22}], "disease": [{"text": "cervical cancer", "start": 75, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Ero1-L alpha plays a key role in a HIF-1-mediated pathway to improve disulfide bond formation and VEGF secretion under hypoxia: implication for cancer.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 98, "end": 102}], "disease": [{"text": "hypoxia", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The expression of the transcription factors CREB and ATF-1 is upregulated in metastatic melanoma cells.", "output": {"entities": {"gene": [{"text": "CREB", "start": 44, "end": 48}], "disease": [{"text": "metastatic melanoma", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Western blot analysis showed that rosuvastatin could change the cytokine expressions in the peri-infarction region by upregulating the SDF-1 expression and downregulating the expressions of CXCR-4, ICAM-1, and VEGF in 4 to 14 days after AMI.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 210, "end": 214}], "disease": [{"text": "infarction", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "[Combination therapy with 5-fluorouracil (5-FU), cisplatin (CDDP) and interferon alpha-2B (IFN alpha-2B) for advanced renal cell carcinoma].", "output": {"entities": {"gene": [{"text": "interferon alpha-2B", "start": 70, "end": 89}], "disease": [{"text": "renal cell carcinoma", "start": 118, "end": 138}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interferon alpha-2B", "start": 70, "end": 89}, "tail": {"text": "renal cell carcinoma", "start": 118, "end": 138}}]}}, "schema": []}
{"input": "Ten ovarian cancer cell lines were analyzed by methylation-specific PCR, and seven (GPR150, LOC222171, PRTFDC1, LOC339210, ITGA8, C9orf64 and HOXD11) of the 33 CGIs were methylated in one or more of the cell lines.", "output": {"entities": {"gene": [{"text": "GPR150", "start": 84, "end": 90}], "disease": [{"text": "ovarian cancer", "start": 4, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPR150", "start": 84, "end": 90}, "tail": {"text": "ovarian cancer", "start": 4, "end": 18}}]}}, "schema": []}
{"input": "Here, we report two families with extreme microcephaly and grossly simplified cortical gyral structure, a condition referred to as microlissencephaly, and show that they carry homozygous frameshift mutations in NDE1, which encodes a multidomain protein that localizes to the centrosome and mitotic spindle poles.", "output": {"entities": {"gene": [{"text": "NDE1", "start": 211, "end": 215}], "disease": [{"text": "microlissencephaly", "start": 131, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDE1", "start": 211, "end": 215}, "tail": {"text": "microlissencephaly", "start": 131, "end": 149}}]}}, "schema": []}
{"input": "In addition, a common non-sense mutation in PVRL1 was discovered more often among non-syndromic sporadic clefting cases in Northern Venezuela in a previous case-control study.", "output": {"entities": {"gene": [{"text": "PVRL1", "start": 44, "end": 49}], "disease": [{"text": "sporadic", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We have analysed this CAG repeat sequence in a large number of patients with typical sporadic ALS and in normal controls, in order to test the hypothesis that this polymorphism of the androgen receptor gene may influence susceptibility for ALS.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 184, "end": 206}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The N251K functional polymorphism in the alpha (2A)-adrenoceptor gene is not associated with depression: a study in suicide completers.", "output": {"entities": {"gene": [{"text": "alpha (2A)-adrenoceptor", "start": 41, "end": 64}], "disease": [{"text": "depression", "start": 93, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha (2A)-adrenoceptor", "start": 41, "end": 64}, "tail": {"text": "depression", "start": 93, "end": 103}}]}}, "schema": []}
{"input": "Epo production induced by hypoxia of HIV-1 infected Hep3B cells was depressed compared with non-HIV containing Hep3B cells when normalized for cell number, total cellular protein or albumin, but not depressed when normalized for alpha-fetoprotein production.", "output": {"entities": {"gene": [{"text": "alpha-fetoprotein", "start": 229, "end": 246}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "In this study we investigated whether partial or total MASP-2 deficiencies resulting from Asp105Gly mutation are associated with rheumatic fever (RF) and chronic rheumatic heart disease (RHD).", "output": {"entities": {"gene": [{"text": "MASP", "start": 55, "end": 59}], "disease": [{"text": "chronic rheumatic heart disease", "start": 154, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP).", "output": {"entities": {"gene": [{"text": "AFP", "start": 245, "end": 248}], "disease": [{"text": "axonal sensorimotor neuropathy", "start": 162, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Moyamoya disease (MMD) is an uncommon cerebrovascular disorder characterized by progressive occlusion of the internal carotid artery causing cerebral ischemia and hemorrhage.", "output": {"entities": {"gene": [{"text": "MMD", "start": 18, "end": 21}], "disease": [{"text": "cerebrovascular disorder", "start": 38, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Taken together, mammary tumor cell invasiveness was stimulated by TNF-α induced activation of Hh signaling; these effects were abrogated by daidzein, which suppressed Gli1 activation, thereby inhibiting migration and invasion.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 66, "end": 71}], "disease": [{"text": "mammary tumor", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.", "output": {"entities": {"gene": [{"text": "MCCC2", "start": 30, "end": 35}], "disease": [{"text": "3-methylcrotonyl-CoA carboxylase deficiency", "start": 83, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCCC2", "start": 30, "end": 35}, "tail": {"text": "3-methylcrotonyl-CoA carboxylase deficiency", "start": 83, "end": 126}}]}}, "schema": []}
{"input": "In order to detect the contribution of cytochrome P450 1A1 (CYP1A1), aryl hydrocarbon receptor (AhR), glutathione S-transferases M1 (GSTM1), P1 (GSTP1), and T1 (GSTT1) genes in breast cancer, genetic analysis was performed, as well as transcriptional analysis in sporadic primary tumours and corresponding adjacent normal tissues from the same patient.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 133, "end": 138}], "disease": [{"text": "sporadic", "start": 263, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for age, height, weight, exercise, smoking, calcium and alcohol intake, BMC, scan area and BMD at all measurement sites were similar for the different XbaI and PvuII genotypes of the ER and independent of the number of the CAG repeats of the AR gene.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 258, "end": 265}], "disease": [{"text": "weight", "start": 33, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "CUGBP2, a translation inhibitor, induces colon cancer cells to undergo apoptosis.", "output": {"entities": {"gene": [{"text": "CUGBP2", "start": 0, "end": 6}], "disease": [{"text": "colon cancer", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In the absence of functional pVHL, a series of proteins accumulate in the cells, including hypoxic-inducible factor-1a (HIF-1a) and the products of the target genes of pVHL, such as vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 218, "end": 222}], "disease": [{"text": "hypoxic", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, CHFR is frequently inactivated in acute leukemia and is a good candidate for the leukemia supper gene.", "output": {"entities": {"gene": [{"text": "CHFR", "start": 15, "end": 19}], "disease": [{"text": "leukemia", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Finally, we found that FPR2 gene expression was increased approximately sixfold in the colon of patients with Crohn' s disease, a finding reproduced in vitro by the treatment of THP-1 cells with interferon-& #947; or lipopolysaccharide.", "output": {"entities": {"gene": [{"text": "FPR2", "start": 23, "end": 27}], "disease": [{"text": "Crohn' s disease", "start": 110, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FPR2", "start": 23, "end": 27}, "tail": {"text": "Crohn' s disease", "start": 110, "end": 126}}]}}, "schema": []}
{"input": "Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.", "output": {"entities": {"gene": [{"text": "PLCD1", "start": 72, "end": 77}], "disease": [{"text": "porcelain nails", "start": 27, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLCD1", "start": 72, "end": 77}, "tail": {"text": "porcelain nails", "start": 27, "end": 42}}]}}, "schema": []}
{"input": "Collective results imply a unified molecular mechanism for repair-independent functions of FA, RAD51, and BRCA1/2 proteins in preventing genomic instability and suppressing tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 106, "end": 111}], "disease": [{"text": "genomic instability", "start": 137, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "CHD7 mutations can be present in KS patients who have additional features that are part of the CHARGE syndrome phenotype.", "output": {"entities": {"gene": [{"text": "CHD7", "start": 0, "end": 4}], "disease": [{"text": "CHARGE syndrome", "start": 95, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHD7", "start": 0, "end": 4}, "tail": {"text": "CHARGE syndrome", "start": 95, "end": 110}}]}}, "schema": []}
{"input": "Our findings demonstrate that the prolactin receptor is present in macrophages of the atherosclerotic plaque at sites of most prominent inflammation.", "output": {"entities": {"gene": [{"text": "prolactin receptor", "start": 34, "end": 52}], "disease": [{"text": "inflammation", "start": 136, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Expression of EPB41L1, EPB41L2, EPB41L3 (protein: 4. 1B), EPB41L4B (EHM2), EPB41L5, EPB49 (dematin), VIL2 (ezrin), and DLG1 (summarized as \" cortical cytoskeleton \" genes) as well as ERG was measured by quantitative RT-PCR in a well-characterized set of 45 M0 prostate adenocarcinoma and 13 benign tissues.", "output": {"entities": {"gene": [{"text": "VIL2", "start": 101, "end": 105}], "disease": [{"text": "prostate adenocarcinoma", "start": 260, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Main outcome measures were whole body dual x-ray emission absorptiometry at 9 yr to estimate height-corrected fat mass index (FMI), truncal FMI, and fat-free mass, and insulin secretion after oral glucose at 8 yr. Homozygous III/III children had higher BMI (P = 0. 020), FMI (P = 0. 015), and truncal FMI (P = 0. 022) at 9 yr than class I bearers, but no difference in fat-free mass (P = 0. 23).", "output": {"entities": {"gene": [{"text": "FMI", "start": 126, "end": 129}], "disease": [{"text": "height", "start": 93, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Expression of MyoD1 and myogenin mRNA was examined by RT-PCR in RMSs (9 alveolar RMS, 10 embryonal RMS, 1 pleomorphic RMS), and 21 other paediatric tumor samples (10 neuroblastoma, 10 Ewing sarcomas, and 1 Sarcoma (not otherwise specified) (S (NOS)).", "output": {"entities": {"gene": [{"text": "MyoD1", "start": 14, "end": 19}], "disease": [{"text": "neuroblastoma", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We found that pretreatment of cholecystokinin-8 (CCK-8) inhibited METH-induced brain cellular dopaminergic (DA) damage in the striatum and substantia nigra, and related behavioural deficits and hyperthermia.", "output": {"entities": {"gene": [{"text": "cholecystokinin", "start": 30, "end": 45}], "disease": [{"text": "hyperthermia", "start": 194, "end": 206}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "cholecystokinin", "start": 30, "end": 45}, "tail": {"text": "hyperthermia", "start": 194, "end": 206}}]}}, "schema": []}
{"input": "Such an effect on structures of such central importance in a broad range of cellular functions is thought to explain NAP' s activity in wide ranging models of cellular damage and neurodegeneration.", "output": {"entities": {"gene": [{"text": "NAP' s", "start": 117, "end": 123}], "disease": [{"text": "neurodegeneration", "start": 179, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "No association was found, thus adding weight to the evidence that there are no alterations in the POMC gene in schizophrenia and bipolar illness.", "output": {"entities": {"gene": [{"text": "POMC", "start": 98, "end": 102}], "disease": [{"text": "bipolar illness", "start": 129, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POMC", "start": 98, "end": 102}, "tail": {"text": "bipolar illness", "start": 129, "end": 144}}]}}, "schema": []}
{"input": "We further established that miR-191 is a critical regulator of transforming growth factor beta (TGFβ)-signaling and promotes cell migration by inducing TGFβ2 expression under hypoxia through direct binding and indirectly by regulating levels of a RNA binding protein, human antigen R (HuR).", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 96, "end": 100}], "disease": [{"text": "hypoxia", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss.", "output": {"entities": {"gene": [{"text": "DFNA44", "start": 64, "end": 70}], "disease": [{"text": "nonsyndromic hearing loss", "start": 124, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DFNA44", "start": 64, "end": 70}, "tail": {"text": "nonsyndromic hearing loss", "start": 124, "end": 149}}]}}, "schema": []}
{"input": "Molecular studies performed in primary endothelial cells overexpressing IFI16 demonstrated that it may be involved in the early steps of inflammation by modulating endothelial cell function, such as expression of adhesion molecules and chemokine production, cell growth, and apoptosis.", "output": {"entities": {"gene": [{"text": "IFI16", "start": 72, "end": 77}], "disease": [{"text": "inflammation", "start": 137, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate here that tumor-producing TGF-β1 induces vascular endothelial growth factor (VEGF) in prostate cancer cells, and hypoxia-inducible factor (HIF)-1α and HIF-2α has opposite functions in TGF-β1 regulation of VEGF expression under non-hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 92, "end": 96}], "disease": [{"text": "hypoxic", "start": 246, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "In a patient with mild HA we detected a duplication of exon 13, which is a rearrangement not yet described within the FVIII gene.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 118, "end": 123}], "disease": [{"text": "HA", "start": 23, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 118, "end": 123}, "tail": {"text": "HA", "start": 23, "end": 25}}]}}, "schema": []}
{"input": "The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.", "output": {"entities": {"gene": [{"text": "PAH", "start": 53, "end": 56}], "disease": [{"text": "phenylketonuria", "start": 94, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAH", "start": 53, "end": 56}, "tail": {"text": "phenylketonuria", "start": 94, "end": 109}}]}}, "schema": []}
{"input": "Here, the role of NK-1 receptor expressing cells in the spinal dorsal horn in morphine-induced hyperalgesia and spinal antinociceptive tolerance was assessed by ablating these cells with intrathecal injection of SP-saporin (SP-SAP).", "output": {"entities": {"gene": [{"text": "NK-1 receptor", "start": 18, "end": 31}], "disease": [{"text": "hyperalgesia", "start": 95, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NK-1 receptor", "start": 18, "end": 31}, "tail": {"text": "hyperalgesia", "start": 95, "end": 107}}]}}, "schema": []}
{"input": "Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene.", "output": {"entities": {"gene": [{"text": "coagulation factor VIII", "start": 87, "end": 110}], "disease": [{"text": "Haemophilia A", "start": 0, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor VIII", "start": 87, "end": 110}, "tail": {"text": "Haemophilia A", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "This finding could be due to chronic infection with virus persistence in the lower respiratory tract, also in the absence of symptoms unequivocally attributable to B19.", "output": {"entities": {"gene": [{"text": "B19", "start": 164, "end": 167}], "disease": [{"text": "absence of symptoms", "start": 114, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We detail the existence of a plethora of complex splicing events and alternative poly (A) use and provide data that explain the discrepancies reported to date regarding the autoregulatory capacity of TDP-43.", "output": {"entities": {"gene": [{"text": "TDP-43", "start": 200, "end": 206}], "disease": [{"text": "plethora", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Factors predisposing to coma and delirium: fentanyl and midazolam exposure; CYP3A5, ABCB1, and ABCG2 genetic polymorphisms; and inflammatory factors.", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 95, "end": 100}], "disease": [{"text": "coma", "start": 24, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Studies on primary rodent Sertoli cells and germ cells, as well as testes from CFTR knockout mice or a cryptorchidism model, yield findings indicating the involvement of CFTR in spermatogensis through the HCO (3) (-)/sAC/cAMP/CREB (CREM) pathway and the NF-κB/COX-2/PGE (2) pathway.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 254, "end": 259}], "disease": [{"text": "cryptorchidism", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Three stages of cytokine mRNA expression could be distinguished: (i) interleukin (IL)-12, tumor necrosis factor (TNF)-beta (= lymphotoxin-alpha) and cytolysin appeared early and before onset of clinical signs of EAE; (ii) TNF-alpha peaked at height of clinical signs of EAE; (iii) IL-10 appeared increasingly at and after clinical recovery.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 222, "end": 231}], "disease": [{"text": "height", "start": 242, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "There was an increase in Mn-and Cu-Zn-SOD activity in SAH, MV, M, and Turner' s syndrome.", "output": {"entities": {"gene": [{"text": "SOD", "start": 38, "end": 41}], "disease": [{"text": "Turner' s syndrome", "start": 70, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD", "start": 38, "end": 41}, "tail": {"text": "Turner' s syndrome", "start": 70, "end": 88}}]}}, "schema": []}
{"input": "IFN was effective in controlling purpura (80%) but was moderately effective on severe haematuria/proteinuria, renal insufficiency and neuropathy.", "output": {"entities": {"gene": [{"text": "IFN", "start": 0, "end": 3}], "disease": [{"text": "haematuria", "start": 86, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Finally, SGTA knockdown induced adhesion-mediated drug resistance.", "output": {"entities": {"gene": [{"text": "SGTA", "start": 9, "end": 13}], "disease": [{"text": "adhesion", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Age at diagnosis, penetrance, and clinical complications were analyzed for medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism (HPT), as well as overall survival.", "output": {"entities": {"gene": [{"text": "HPT", "start": 153, "end": 156}], "disease": [{"text": "pheochromocytoma", "start": 110, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In situ hybridization (ISH) and immunohistochemistry (IHC) were used to detect vascular endothelial growth factor (VEGF) mRNA and protein expression in sections of glioma xenografts and spheroids in which hypoxic regions and regions with well-oxygenated necrosis were identified on contiguous sections by use of the hypoxia-specific marker, 3H-misonidazole.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 115, "end": 119}], "disease": [{"text": "necrosis", "start": 254, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "A variety of previously unreported mutations in the coding region of the CHST6 gene are associated with type I MCD in a cohort of patients in southern India.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 73, "end": 78}], "disease": [{"text": "MCD", "start": 111, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 73, "end": 78}, "tail": {"text": "MCD", "start": 111, "end": 114}}]}}, "schema": []}
{"input": "In this study, we have demonstrated that hormone-sensitive lipase (HSL) mRNA is expressed at very low levels in macrophage-derived foam cells, using the unique approach of extracting mRNA from macrophage-derived foam cells purified from human and rabbit atherosclerotic plaques coupled with reverse transcriptase polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "HSL", "start": 67, "end": 70}], "disease": [{"text": "foam cells", "start": 131, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "] on estrogen replacement therapy [ERT]), we assessed whether ERT-mediated thrombophilia and heritable thrombophilia (20210 G--> A prothrombin gene [PTG], Factor V Leiden gene mutation [FV]) interacted as risk factors for atherothrombotic cardiovascular disease (ATCVD).", "output": {"entities": {"gene": [{"text": "PTG", "start": 149, "end": 152}], "disease": [{"text": "cardiovascular disease", "start": 239, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "We report transiently increased retinal levels of BDNF, NT3, p75 (NTR), FGFR1 and HGFR and decreased levels of FGF9, HGF, TrkB, TrkC, FGFR4 and Thy1 following ischemia.", "output": {"entities": {"gene": [{"text": "HGF", "start": 82, "end": 85}], "disease": [{"text": "ischemia", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The development of colonic inflammation in IL-10 (-/-) mice was accompanied by upregulation in the expression of 10 miRNAs (miR-19a, miR-21, miR-31, miR-101, miR-223, miR-326, miR-142-3p, miR-142-5p, miR-146a, and miR-155).", "output": {"entities": {"gene": [{"text": "19a", "start": 128, "end": 131}], "disease": [{"text": "inflammation", "start": 27, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The addition of pentosan polysulphate sodium (NaPPS) to thrombogenic prothrombin complex concentrates (PCC) dose-dependently reduces or abolishes thrombus formation in rats in the stasis model acc. to Wessler.", "output": {"entities": {"gene": [{"text": "prothrombin", "start": 69, "end": 80}], "disease": [{"text": "thrombus", "start": 146, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prothrombin", "start": 69, "end": 80}, "tail": {"text": "thrombus", "start": 146, "end": 154}}]}}, "schema": []}
{"input": "Conversely, there is no evidence from this study that rare PALB2 missense mutations strongly influence breast cancer risk.", "output": {"entities": {"gene": [{"text": "PALB2", "start": 59, "end": 64}], "disease": [{"text": "breast cancer", "start": 103, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PALB2", "start": 59, "end": 64}, "tail": {"text": "breast cancer", "start": 103, "end": 116}}]}}, "schema": []}
{"input": "The mammalian target of rapamycin complex 1 (mTORC1) pathway has been recently implicated in such function, due to its ability to integrate nutrient and hormonal signals to control food intake and body weight.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 45, "end": 51}], "disease": [{"text": "body weight", "start": 197, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "The next best SNP was rs12201676 located at 6q15 (p = 2. 67 & #215; 10 (-4), 2. 12 & #215; 10 (-5), 3. 88 & #215; 10 (-8) for schizophrenia, bipolar disorder and meta-analysis, respectively), near two flanking genes, GABRR1 and GABRR2 (15 and 17kb away, respectively).", "output": {"entities": {"gene": [{"text": "GABRR2", "start": 228, "end": 234}], "disease": [{"text": "bipolar disorder", "start": 141, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRR2", "start": 228, "end": 234}, "tail": {"text": "bipolar disorder", "start": 141, "end": 157}}]}}, "schema": []}
{"input": "While HSP70-1 expression constantly increased (up to 4-fold) during reperfusion, even to a higher extent with prolongation of ischemia, HSP70-2 mRNA-which was generally expressed at a far lower level than HSP70-1 mRNA-was strongly induced (3-fold) during reperfusion only after brief periods (10 min) of ischemia.", "output": {"entities": {"gene": [{"text": "HSP70-1", "start": 6, "end": 13}], "disease": [{"text": "ischemia", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The translocation results in the juxtaposition of the bcl-2 gene on chromosome 18 with the immunoglobulin heavy chain joining region on chromosome 14.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 54, "end": 64}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "C5orf30", "start": 21, "end": 28}], "disease": [{"text": "liver cancer", "start": 201, "end": 213}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C5orf30", "start": 21, "end": 28}, "tail": {"text": "liver cancer", "start": 201, "end": 213}}]}}, "schema": []}
{"input": "Stable expression of Testisin in the Testisin-negative Tera-2 testicular cancer line suppressed tumorigenicity as revealed by inhibition of both anchorage-dependent cell growth and tumour formation in an SCID mouse model of testicular tumorigenesis.", "output": {"entities": {"gene": [{"text": "Testisin", "start": 21, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 235, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "The phenotypes included were systolic and diastolic blood pressure (SBP and DBP), body mass index (BMI), waist-to-hip ratio (WHR), plasma renin activity (PRA), plasma aldosterone concentration (PAC), plasma brain natriuretic peptide (BNP) concentration and alcohol consumption (AC).", "output": {"entities": {"gene": [{"text": "PRA", "start": 154, "end": 157}], "disease": [{"text": "alcohol consumption", "start": 257, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Two SNPs in Intron 1 of MTNR1A were significantly associated with calcium nephrolithiasis: rs13140012 (P = 0. 0004) and rs6553010 (P = 0. 009).", "output": {"entities": {"gene": [{"text": "MTNR1A", "start": 24, "end": 30}], "disease": [{"text": "calcium nephrolithiasis", "start": 66, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "These findings implicate the loss of caspase-1 protein as a potential step in the loss of apoptotic control during prostate tumorigenesis.", "output": {"entities": {"gene": [{"text": "caspase-1", "start": 37, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Down-regulation of the co-stimulatory molecules CD70 (TNFSF7) and CD80 may contribute to tumor cell survival; however, the mechanism of down-regulation of the TNFSF7 gene during tumorigenesis is poorly understood.", "output": {"entities": {"gene": [{"text": "TNFSF7", "start": 54, "end": 60}], "disease": [{"text": "tumorigenesis", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "The histological findings and the expression of TPM3-ALK fusion gene confirmed a diagnosis of an inflammatory myofibroblastic tumor.", "output": {"entities": {"gene": [{"text": "ALK", "start": 53, "end": 56}], "disease": [{"text": "inflammatory myofibroblastic tumor", "start": 97, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALK", "start": 53, "end": 56}, "tail": {"text": "inflammatory myofibroblastic tumor", "start": 97, "end": 131}}]}}, "schema": []}
{"input": "Sex and age modified the pattern of concordance of high IgE levels, SPT positivity, and eosinophilia among asthmatic cases, with the greatest overlap in male children (64%) and the lowest in male adults (18%).", "output": {"entities": {"gene": [{"text": "SPT", "start": 68, "end": 71}], "disease": [{"text": "eosinophilia", "start": 88, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Prospectively collected cremaster muscle and/or hernia sac tissues from boys with congenital (79) or acquired (66) nonsyndromic cryptorchidism and hernia/hydrocele (controls, 84) were analyzed for hormone receptor (RXFP2, AR, ESR1, ESR2) and myosin heavy chain specific (MYH1, MYH2, MYH7) mRNA expression using real-time reverse transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "ESR2", "start": 232, "end": 236}], "disease": [{"text": "cryptorchidism", "start": 128, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis.", "output": {"entities": {"gene": [{"text": "LRIG2", "start": 80, "end": 85}], "disease": [{"text": "tumorigenesis", "start": 202, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Consequently, Smad4 mono-ubiquitination and nuclear export are favoured and thus TGF-β1-Smad4 pro-fibrotic activity is inhibited.", "output": {"entities": {"gene": [{"text": "Smad4", "start": 14, "end": 19}], "disease": [{"text": "mono", "start": 20, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "We sequenced the genes encoding superoxide dismutase (SOD1), TAR DNA-binding protein 43 (TARDBP) and FUS in 99 sporadic and 17 familial ALS patients ascertained at Mayo Clinic.", "output": {"entities": {"gene": [{"text": "FUS", "start": 101, "end": 104}], "disease": [{"text": "sporadic", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Impaired migration of these cells was associated with failure of uropod retraction likely due to altered contractility and adhesion, evidenced by reduced expression of the myosin light chain 9 (MYL9) component of myosin II complex and overexpression of CD11b integrin.", "output": {"entities": {"gene": [{"text": "MYL9", "start": 194, "end": 198}], "disease": [{"text": "adhesion", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Expression of MLH1, MSH2, PMS1 and PMS2 was investigated immunohistochemically in 31 melanoma metastatic tumors.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 20, "end": 24}], "disease": [{"text": "melanoma metastatic", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Role of the PI3K/Akt, mTOR, and STK11/LKB1 pathways in the tumorigenesis of sclerosing hemangioma of the lung.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 38, "end": 42}], "disease": [{"text": "tumorigenesis", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Reduced bone resorption occurs due to faulty activity of the sclerostin molecule, a product of the recently discovered SOST gene in chromosome 17.", "output": {"entities": {"gene": [{"text": "SOST gene", "start": 119, "end": 128}], "disease": [{"text": "bone resorption", "start": 8, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "An association among the Thr92Ala DIO2 variant and type 2 diabetes, indices of insulin resistance (HOMA-IR), insulin secretion, free thyroid hormones, and thyrotropin (TSH) was found.", "output": {"entities": {"gene": [{"text": "DIO2", "start": 34, "end": 38}], "disease": [{"text": "insulin resistance", "start": 79, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Fifty-four pancreatic adenocarcinomas, 13 intraductal papillary mucinous neoplasms, and 6 chronic pancreatitis cases were stained with antibodies against enhancer of zeste homologue 2 and E-cadherin.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 188, "end": 198}], "disease": [{"text": "chronic pancreatitis", "start": 90, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that in the absence of the serine protease inhibitor spink5, there is an abnormal increase in the processing of profilaggrin, resulting in an overabundance of filaggrin monomers, and that this may play a direct role in the observed deficit in the adhesion of the stratum corneum and the severely compromised epidermal barrier function.", "output": {"entities": {"gene": [{"text": "filaggrin", "start": 134, "end": 143}], "disease": [{"text": "adhesion", "start": 266, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "They presented common features associated to patients affected by SMBA, such as gynecomastia, high level of CPK, muscle cramps, fasciculations, muscle wastage, and impaired swallowing.", "output": {"entities": {"gene": [{"text": "CPK", "start": 108, "end": 111}], "disease": [{"text": "impaired swallowing", "start": 164, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Variability of thrombotic disease among individuals homozygous for factor V Leiden has been described.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 67, "end": 82}], "disease": [{"text": "thrombotic", "start": 15, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "factor V Leiden", "start": 67, "end": 82}, "tail": {"text": "thrombotic", "start": 15, "end": 25}}]}}, "schema": []}
{"input": "The expression levels of hPER1, hPER2, hPER3, hCRY1, hCRY2 and hBMAL1 were significantly impaired in both chronic phase and blastic crisis of CML cases compared with those in healthy individuals (P & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "hCRY2", "start": 53, "end": 58}], "disease": [{"text": "CML", "start": 142, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hCRY2", "start": 53, "end": 58}, "tail": {"text": "CML", "start": 142, "end": 145}}]}}, "schema": []}
{"input": "Platelet beta3-integrin deficiency was sufficient to disrupt hemostasis but had no effect on bone mass or tumor growth.", "output": {"entities": {"gene": [{"text": "beta3", "start": 9, "end": 14}], "disease": [{"text": "bone mass", "start": 93, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Newly ascertained familial and sporadic LTE patients were clinically investigated, and interictal EEG and MRI findings were obtained; probands were tested for LGI1 mutations by direct exon sequencing or denaturing high performance liquid chromatography.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 159, "end": 163}], "disease": [{"text": "sporadic", "start": 31, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that the inhibition of EP300 might be a common therapeutic mechanism between CR and RSV in adipose tissues of obese individuals.", "output": {"entities": {"gene": [{"text": "EP300", "start": 46, "end": 51}], "disease": [{"text": "obese", "start": 133, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EP300", "start": 46, "end": 51}, "tail": {"text": "obese", "start": 133, "end": 138}}]}}, "schema": []}
{"input": "The bcl-2 oncogene was originally found in the translocation in a pre-B cell acute lymphocytic leukemia cell line.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 4, "end": 9}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We studied 11 unrelated individuals with sclerosing bone disorders where LEMD3 mutation was a potential etiology: familial OPK (1), familial BOS (2), previously reported familial OPK with MEL (1), sporadic MEL (3), sporadic MEL with mixed-sclerosing-bone dystrophy (1), and patients with other unusual sclerosing bone disorders (3).", "output": {"entities": {"gene": [{"text": "LEMD3", "start": 73, "end": 78}], "disease": [{"text": "mixed-sclerosing-bone dystrophy", "start": 233, "end": 264}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LEMD3", "start": 73, "end": 78}, "tail": {"text": "mixed-sclerosing-bone dystrophy", "start": 233, "end": 264}}]}}, "schema": []}
{"input": "Furthermore, EPCs exposed to either short-or long-term BMP9 stimulation demonstrated these functions in EPC-mediated neovascularization.", "output": {"entities": {"gene": [{"text": "BMP9", "start": 55, "end": 59}], "disease": [{"text": "neovascularization", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "These results illuminate a novel mechanistic pathway linking hemolysis and erythroid hyperplasia to increased PlGF, endothelin-1, and pulmonary hypertension in SCD, and suggest that strategies that block PlGF signaling may be therapeutically beneficial.", "output": {"entities": {"gene": [{"text": "PlGF", "start": 110, "end": 114}], "disease": [{"text": "pulmonary hypertension", "start": 134, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 62, "end": 67}], "disease": [{"text": "genomic instability", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "A nonsignificant increased risk of thyroid carcinoma was observed in individuals lacking either GSTM1 (OR, 2. 9; 95% CI, 0. 8-10. 9) or GSTT1 (OR, 3. 7; 95% CI, 0. 6-23. 5).", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 96, "end": 101}], "disease": [{"text": "carcinoma", "start": 43, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "TRKA, a receptor tyrosine kinase cloned from a human colon cancer was later found to be expressed in the nervous system and phosphorylated in response to NGF.", "output": {"entities": {"gene": [{"text": "TRKA", "start": 0, "end": 4}], "disease": [{"text": "nervous system", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Forty-five women with adverse pregnancy outcome defined as severe pre-eclampsia, abruptio placentae, intrauterine growth restriction and stillbirth, were tested for factor V Leiden and prothrombin G20210A mutations.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 165, "end": 180}], "disease": [{"text": "stillbirth", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Thus, SLIT2 may be useful as a therapeutic target in the treatment of HCC.", "output": {"entities": {"gene": [{"text": "SLIT2", "start": 6, "end": 11}], "disease": [{"text": "HCC", "start": 70, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLIT2", "start": 6, "end": 11}, "tail": {"text": "HCC", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "The present study aimed to assess the impact of smoking and sex for the risk of non-small-cell lung cancer (NSCLC) with or without epidermal growth factor receptor (EGFR) mutation.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 165, "end": 169}], "disease": [{"text": "smoking", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We conclude that molecular genetic analysis of the GFAP gene is feasible for antemortem diagnosis of Alexander disease in Japanese patients.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 51, "end": 55}], "disease": [{"text": "Alexander disease", "start": 101, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 51, "end": 55}, "tail": {"text": "Alexander disease", "start": 101, "end": 118}}]}}, "schema": []}
{"input": "We show here that AID acts promiscuously, generating widespread DNA double-strand breaks (DSBs), genomic instability and cytotoxicity in B cells with less homologous recombination ability.", "output": {"entities": {"gene": [{"text": "AID", "start": 18, "end": 21}], "disease": [{"text": "genomic instability", "start": 97, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "As an intervention with ER stress responses in the intestinal cancer cells, preventive exposure to flavone apigenin potentiated superinduction of a regulatory transcription factor, activating transcription factor 3 (ATF3), which is also known to be an integral player coordinating ER stress response-related gene expression.", "output": {"entities": {"gene": [{"text": "transcription factor 3", "start": 192, "end": 214}], "disease": [{"text": "intestinal cancer", "start": 51, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The primary skin lesion scores were identical in severity and kinetics, and there were no differences in viral load at dorsal root ganglionic (DRG) neurons at day 4 postinfection (p. i.)", "output": {"entities": {"gene": [{"text": "DRG", "start": 143, "end": 146}], "disease": [{"text": "skin lesion", "start": 12, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Nebula/DSCR1 upregulation delays neurodegeneration and protects against APP-induced axonal transport defects by restoring calcineurin and GSK-3β signaling.", "output": {"entities": {"gene": [{"text": "DSCR1", "start": 7, "end": 12}], "disease": [{"text": "neurodegeneration", "start": 33, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Genetic alterations in the dopaminergic system are frequently observed in association with attention deficit hyperactivity disorder (ADHD) and a 40 bp variable number of tandem repeats (VNTR) in the 3'-untranslated region (3'-UTR) of the dopamine transporter gene (DAT1) has been investigated in different populations.", "output": {"entities": {"gene": [{"text": "UTR", "start": 226, "end": 229}], "disease": [{"text": "attention deficit hyperactivity disorder", "start": 91, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "More recently, erythrocytosis patients with heterozygous point mutations in the HIF2A gene have been identified; whether these mutations were polymorphisms unrelated to the phenotype could not be ruled out.", "output": {"entities": {"gene": [{"text": "HIF2A", "start": 80, "end": 85}], "disease": [{"text": "erythrocytosis", "start": 15, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Sirtuin 1 (SIRT1), a class III histone deacetylase (HDAC), has been reported to have the function of antiatherosclerosis, but its role in neointima formation remains unknown.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 11, "end": 16}], "disease": [{"text": "neointima formation", "start": 138, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "On initiation of apoptosis or necrosis, p43 was cleaved by calpains and released as truncated protein p43 (apoptosis-released factor [ARF]).", "output": {"entities": {"gene": [{"text": "ARF", "start": 134, "end": 137}], "disease": [{"text": "necrosis", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Modification of ORs for smoking by single and combined NER genotypes was investigated.", "output": {"entities": {"gene": [{"text": "NER", "start": 55, "end": 58}], "disease": [{"text": "smoking", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the p53 codon 72 PRO/PRO genotype is potentially associated with early paracentral visual field defects in primary open-angle glaucoma patients.", "output": {"entities": {"gene": [{"text": "p53", "start": 31, "end": 34}], "disease": [{"text": "visual field defects", "start": 110, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In addition, there is coordinated loss of both HOXA5 and RARbeta expression during neoplastic transformation and progression in the breast epithelial cell model, MCF10A.", "output": {"entities": {"gene": [{"text": "HOXA5", "start": 47, "end": 52}], "disease": [{"text": "neoplastic transformation", "start": 83, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Herein we report that inhibition of the polyol pathway enzyme aldose reductase (AR) prevents the increase in ICAM-1 and VCAM-1 in human umbilical vein endothelial cells (HUVECs) and decreases monocyte adhesion to these cells.", "output": {"entities": {"gene": [{"text": "aldose reductase", "start": 62, "end": 78}], "disease": [{"text": "adhesion", "start": 201, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "To better elucidate the pathogenesis of lymphocyte recruitment of memory CD4 (+) T cells in inflammatory myopathies, we studied the expression of CCR5 and CCR7 on CD4 memory T cells in muscle tissue from 11 patients with juvenile dermatomyositis, six adult patients with polymyositis, two patients with Duchenne muscular dystrophy, and two patients with spinal muscular atrophy.", "output": {"entities": {"gene": [{"text": "CCR7", "start": 155, "end": 159}], "disease": [{"text": "juvenile dermatomyositis", "start": 221, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "To assess the functional significance of phospholipid hydroperoxidase glutathione peroxidase (PHGPx) under cryptorchidism, PHGPx expression was spatiotemporally analyzed in testes and epididymis excised at 1, 4, 7, 14, 21, and 28 days after experimental bilateral cryptorchidism in adult mice.", "output": {"entities": {"gene": [{"text": "phospholipid hydroperoxidase", "start": 41, "end": 69}], "disease": [{"text": "cryptorchidism", "start": 107, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "phospholipid hydroperoxidase", "start": 41, "end": 69}, "tail": {"text": "cryptorchidism", "start": 107, "end": 121}}]}}, "schema": []}
{"input": "This adenovirus-mediated LIGHT therapy induced substantial splenic natural killer (NK) and cytotoxic T lymphocyte (CTL) activity, enhanced tumor infiltration by inflammatory cells and increased chemokine expression of CC chemokine ligand 21 (CCL21), IFN-inducible protein-10 (IP-10) and monokine induced by IFN-gamma (Mig) from tumor tissues.", "output": {"entities": {"gene": [{"text": "IP-10", "start": 276, "end": 281}], "disease": [{"text": "adenovirus", "start": 5, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "That VHL 598C > T homozygosity causes elevated normoxic levels of the transcription factor hypoxia inducible factor-1alpha (HIF-1alpha), serum erythropoietin and hemoglobin is known, but the disease phenotype has not been documented in a controlled manner.", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 124, "end": 134}], "disease": [{"text": "hemoglobin", "start": 162, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "By using interphase fluorescent in situ hybridization methodology, we analyzed PLCB1 gene, which codifies for the PI-PLC & #946; 1 enzyme, in paraffin embedded samples of orbito-frontal cortex of 15 patients affected with major depression and in 15 normal controls.", "output": {"entities": {"gene": [{"text": "PLCB1", "start": 79, "end": 84}], "disease": [{"text": "major depression", "start": 222, "end": 238}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLCB1", "start": 79, "end": 84}, "tail": {"text": "major depression", "start": 222, "end": 238}}]}}, "schema": []}
{"input": "TSA treatment did not alter the DNA-binding activity of Sp1 toward the P-Rex1 promoter; however, it facilitated the dissociation of the repressive HDAC1 and HDAC2 from the Sp1 binding region.", "output": {"entities": {"gene": [{"text": "P-Rex1", "start": 71, "end": 77}], "disease": [{"text": "dissociation", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The 4 patients had the PRKAR1A deletion that has been associated with the isolated form of primary pigmented nodular adrenocortical disease.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 23, "end": 30}], "disease": [{"text": "primary pigmented nodular adrenocortical disease", "start": 91, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRKAR1A", "start": 23, "end": 30}, "tail": {"text": "primary pigmented nodular adrenocortical disease", "start": 91, "end": 139}}]}}, "schema": []}
{"input": "In contrast, inhibition of the constitutive NF-kappaB in HSC-2 cells by adenovirus-mediated gene transfer of a dominant-negative IkappaBalpha suppressed the IFNgamma-induced expression of the CXCL9 and CXCL10 mRNAs.", "output": {"entities": {"gene": [{"text": "CXCL10", "start": 202, "end": 208}], "disease": [{"text": "adenovirus", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Both CA9 and CA12 were strongly induced by hypoxia in a range of tumor cell lines.", "output": {"entities": {"gene": [{"text": "CA12", "start": 13, "end": 17}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Deletion analysis of the human VEGF 5' flanking region-2018 and + 50 demonstrated induction of VEGF promoter activity under hypoxic conditions which was significantly decreased following deletion of the region-1286 and-789 suggesting a substantial contribution of the-975 putative hypoxia inducible factor 1 binding site to hypoxia mediated transcriptional activation of the VEGF gene.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 31, "end": 35}], "disease": [{"text": "hypoxia", "start": 281, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "These included the chemokines Cxcl9, Ccl12, Ccl8, Ccrl2, Cxcl10 and Ccl5, adhesion molecules Cd40, Cd74, and antiviral and antibacterial genes Rsad2, Mx1, Oasl1, Gbp5, Nos2, Batf2 and Tnfrsf11a.", "output": {"entities": {"gene": [{"text": "Nos2", "start": 168, "end": 172}], "disease": [{"text": "adhesion", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We addressed the expression of Fas, DR4, and DR5 in thyroid carcinoma cell lines and in 31 thyroid carcinoma specimens by Western blot analysis and immunohistochemistry, respectively, and tested the sensitivity of thyroid carcinoma cell lines to Fas-and TRAIL-induced apoptosis.", "output": {"entities": {"gene": [{"text": "DR5", "start": 45, "end": 48}], "disease": [{"text": "thyroid carcinoma", "start": 52, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Together, interleukin-1beta and amyloid beta42 peptide [IL-1beta + Abeta42] synergistically activated COX-2 and PS1 gene expression preceded by increases in AP1-, STAT1alpha-, and in particular NF-kappaBp50/p65-and HIF-1alpha-DNA binding.", "output": {"entities": {"gene": [{"text": "p65", "start": 207, "end": 210}], "disease": [{"text": "amyloid", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The Bcl-x, Mcl-1, Bad, and Bax proteins were also expressed in all CTCL skin lesions tested.", "output": {"entities": {"gene": [{"text": "Bax", "start": 27, "end": 30}], "disease": [{"text": "CTCL", "start": 67, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bax", "start": 27, "end": 30}, "tail": {"text": "CTCL", "start": 67, "end": 71}}]}}, "schema": []}
{"input": "These results strongly suggest that HBx may play a critical role in the hypoxia-induced angiogenesis through transcriptional activation of VEGF during hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 139, "end": 143}], "disease": [{"text": "hypoxia", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Endothelial cell OPG mRNA levels were regulated by TNF-alpha and VEGF, but not by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 65, "end": 69}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We investigated a series of patients with locally diagnosed anaplastic oligodendroglial tumors included in the EORTC phase III trial 26951 on procarbazine/lomustine/vincristine (PCV) chemotherapy to explore the diagnostic, prognostic, and predictive value of targeted next-generation sequencing (NGS) in diffuse glioma and to assess the prognostic impact of FUBP1 and CIC mutations.", "output": {"entities": {"gene": [{"text": "CIC", "start": 368, "end": 371}], "disease": [{"text": "diffuse glioma", "start": 304, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "Loss of CHFR in human mammary epithelial cells causes genomic instability by disrupting the mitotic spindle assembly checkpoint.", "output": {"entities": {"gene": [{"text": "CHFR", "start": 8, "end": 12}], "disease": [{"text": "genomic instability", "start": 54, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In patients suffering from schizophrenia we found ALDH1 expression at normal levels in DA cells of SN but at significantly reduced levels in those of the VTA.", "output": {"entities": {"gene": [{"text": "ALDH1", "start": 50, "end": 55}], "disease": [{"text": "schizophrenia", "start": 27, "end": 40}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALDH1", "start": 50, "end": 55}, "tail": {"text": "schizophrenia", "start": 27, "end": 40}}]}}, "schema": []}
{"input": "Our data establish YB-1 as a critical regulator of hypoxia-inducible factor 1α (HIF1α) expression in sarcoma cells.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 19, "end": 23}], "disease": [{"text": "sarcoma", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The χ2 test, ANOVA, nonparametric tests and logistic regression were used to investigate the relationship between the c. 3321delA genotype and atopic dermatitis clinical phenotypes in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 13, "end": 18}], "disease": [{"text": "atopic dermatitis", "start": 143, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In LPK rats, tempol treatment reduced immunofluorescence for 3-nitrotyrosine and HIF1A mRNA while upregulating VEGF and p47phox mRNA expression, but otherwise had little impact on disease progression, renal tissue hypoxia or hypertension.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 111, "end": 115}], "disease": [{"text": "hypoxia", "start": 214, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Multiple regression analyses confirmed chemerin as the strongest predictor of ICAM-1 and E-selectin independent of body mass index sd score.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 39, "end": 47}], "disease": [{"text": "body mass index", "start": 115, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "There was no somatic mutation of BAD gene in the 60 gastric cancer samples.", "output": {"entities": {"gene": [{"text": "BAD gene", "start": 33, "end": 41}], "disease": [{"text": "somatic mutation", "start": 13, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "These results strongly suggest that, as opposed to distinct KIR expressed by CTL, the in vitro KIR3DL2/p140 engagement does not result into inhibitory (nor activatory) effects on tumor-specific CTL.", "output": {"entities": {"gene": [{"text": "KIR3DL2", "start": 95, "end": 102}], "disease": [{"text": "tumor", "start": 179, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the neointima formation, proliferating cell nuclear antigen-positive cells, and phospho-epidermal growth factor receptor-positive cells were markedly enhanced by wild-type ADAM17 adenovirus.", "output": {"entities": {"gene": [{"text": "ADAM17", "start": 185, "end": 191}], "disease": [{"text": "neointima formation", "start": 17, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The ADH1C * 2/* 2/MTHFR 677TT genotype combination showed the maximum risk (odds ratio 20; 95% CI = 13. 45-26. 64) in the heavy drinker group.", "output": {"entities": {"gene": [{"text": "MTHFR", "start": 18, "end": 23}], "disease": [{"text": "heavy drinker", "start": 122, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MTHFR", "start": 18, "end": 23}, "tail": {"text": "heavy drinker", "start": 122, "end": 135}}]}}, "schema": []}
{"input": "DNA vaccines encoding xenogeneic differentiation antigens, such as tyrosinase (TYR), mediate tumor protection and regression in implantable mouse models, and dogs with spontaneous melanoma.", "output": {"entities": {"gene": [{"text": "TYR", "start": 79, "end": 82}], "disease": [{"text": "regression", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Human U87 gliomas were implanted in the brain of adult scid mice, and weekly i. v.", "output": {"entities": {"gene": [{"text": "U87", "start": 6, "end": 9}], "disease": [{"text": "gliomas", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "First, at nuclear envelope breakdown, Cdk1 triggers the translocation of STIL from centrosomes to the cytoplasm.", "output": {"entities": {"gene": [{"text": "Cdk1", "start": 38, "end": 42}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Further, we monitored microvascular density, tumor hypoxic fraction, and collagen covered tumor vessels at three different time points following the treatment of rh-endostatin, as well as the transcription of angiogenesis related factors (vascular endothelial growth factor-A and thrombospondin-1) and vasculature markers (regulator of G-protein signaling 5 and platelet/endothelial cell adhesion molecule-1).", "output": {"entities": {"gene": [{"text": "endothelial cell adhesion molecule", "start": 371, "end": 405}], "disease": [{"text": "hypoxic", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity.", "output": {"entities": {"gene": [{"text": "RAI1", "start": 14, "end": 18}], "disease": [{"text": "brachycephaly", "start": 396, "end": 409}]}, "relations": {}}, "schema": []}
{"input": "Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder characterized by development of hyperkeratotic follicular papules on the scalp followed by progressive alopecia of the scalp, eyelashes, and eyebrows.", "output": {"entities": {"gene": [{"text": "Keratosis Follicularis Spinulosa Decalvans", "start": 0, "end": 42}], "disease": [{"text": "KFSD", "start": 44, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Keratosis Follicularis Spinulosa Decalvans", "start": 0, "end": 42}, "tail": {"text": "KFSD", "start": 44, "end": 48}}]}}, "schema": []}
{"input": "The present study examines the role of ALDH1B1 in colon tumorigenesis and signalling pathways mediating its effects.", "output": {"entities": {"gene": [{"text": "ALDH1B1", "start": 39, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "This study shows that the IL-6-174G > C variant is independently associated with carotid plaque formation in the whole population and an increased carotid IMT in older subjects within a randomly selected, cross-sectional Australian population.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 26, "end": 30}], "disease": [{"text": "plaque", "start": 89, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The results suggested that JNK-AP1 signaling pathway is responsible for Abeta-induced neuroinflammation in HBEC and Alzheimer' s brain and that this signaling pathway may serve as a therapeutic target for relieving Abeta-induced inflammation.", "output": {"entities": {"gene": [{"text": "AP1", "start": 31, "end": 34}], "disease": [{"text": "inflammation", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.", "output": {"entities": {"gene": [{"text": "Wiskott-Aldrich syndrome protein", "start": 29, "end": 61}], "disease": [{"text": "Wiskott-Aldrich syndrome", "start": 29, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Wiskott-Aldrich syndrome protein", "start": 29, "end": 61}, "tail": {"text": "Wiskott-Aldrich syndrome", "start": 29, "end": 53}}]}}, "schema": []}
{"input": "Here we describe a new case of Sotos syndrome with a 5q35 microdeletion, affecting the fibroblast growth factor receptor 4 (FGFR4) gene, presenting with infantile hypercalcemia.", "output": {"entities": {"gene": [{"text": "FGFR4", "start": 124, "end": 129}], "disease": [{"text": "infantile hypercalcemia", "start": 153, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Some studies show that a catechol-O-methyltransferase (COMT) polymorphism affecting enzyme activity was associated with personality characteristics and diseases, such as novelty-seeking personality, substance abuse, and heroin addiction, whose features are similar to ADHD or are associated with ADHD.", "output": {"entities": {"gene": [{"text": "COMT", "start": 55, "end": 59}], "disease": [{"text": "personality characteristics", "start": 120, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The molecular characteristics of HERV-W env also differ from what was observed in Multiple Sclerosis (MS) and may represent distinct features of the genome of patients with BD and SZ.", "output": {"entities": {"gene": [{"text": "HERV-W env", "start": 33, "end": 43}], "disease": [{"text": "SZ", "start": 180, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HERV-W env", "start": 33, "end": 43}, "tail": {"text": "SZ", "start": 180, "end": 182}}]}}, "schema": []}
{"input": "Therefore, this in vivo study shows that the expression of cyclin A RNA and protein in human hematological malignancies correlates with the percentage of cells in S plus G2-M phase and identifies cyclin A as a new potential cell proliferation index in oncology.", "output": {"entities": {"gene": [{"text": "cyclin A", "start": 59, "end": 67}], "disease": [{"text": "hematological malignancies", "start": 93, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "At the age of 20 months, the boy presented with a severe complication with a translocation of Escherichia coli and developed sepsis leading to severe hypoxic-ischemic encephalopathy with persistent vegetative state (PVS).", "output": {"entities": {"gene": [{"text": "PVS", "start": 216, "end": 219}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "All of the abnormalities due to MSH2 and PMS2 were detected by the screening algorithm, but 1 of the 4 MSH6 cases was not.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 103, "end": 107}], "disease": [{"text": "abnormalities", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Also, translocation of p53 to the nuclei and expression of the pro-apoptotic protein PUMA (Bcl2 binding component 3) was observed after induction of FDH expression.", "output": {"entities": {"gene": [{"text": "Bcl2 binding component 3", "start": 91, "end": 115}], "disease": [{"text": "translocation", "start": 6, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Juvenile Batten disease should be considered in children with a retinal dystrophy, especially where there is a bull' s eye maculopathy and an abnormal full field ERG.", "output": {"entities": {"gene": [{"text": "ERG", "start": 162, "end": 165}], "disease": [{"text": "bull' s eye maculopathy", "start": 111, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "All patients stopped ERT and received mild chemotherapy before infusion of gene-modified cells.", "output": {"entities": {"gene": [{"text": "ERT", "start": 21, "end": 24}], "disease": [{"text": "mild", "start": 38, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Some sporadic colon cancers and hereditary nonpolyposis colorectal cancer (HNPCC) have been known by a constitutional defect in mismatch gene repair (MMR) and dysfunction in of this MMR system, which lead to an aberrant phenotype that can cause microsatellite instability.", "output": {"entities": {"gene": [{"text": "MMR", "start": 150, "end": 153}], "disease": [{"text": "microsatellite instability", "start": 245, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.", "output": {"entities": {"gene": [{"text": "CCND2", "start": 8, "end": 13}], "disease": [{"text": "Postaxial Polydactyly", "start": 107, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCND2", "start": 8, "end": 13}, "tail": {"text": "Postaxial Polydactyly", "start": 107, "end": 128}}]}}, "schema": []}
{"input": "We demonstrate that cisplatin and doxorubicin abolish hypoxia-induced VEGF mRNA expression in all cell lines, while basal VEGF mRNA expression was also downregulated.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 70, "end": 74}], "disease": [{"text": "hypoxia", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Moreover, tissue expression of RAGE was analyzed using immunohistochemistry on two independent tissue microarrays (TMA) containing 35 or 257 primary melanomas, and 41 or 22 benign nevi, respectively.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 31, "end": 35}], "disease": [{"text": "nevi", "start": 180, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "To gain insight into the differential mechanism of gene promoter hypermethylation in acute and chronic leukemia, we identified the methylation status on one part of 5' CpG rich region of 8 genes, DAB2IP, DLC-1, H-cadherin, ID4, Integrin alpha4, RUNX3, SFRP1, and SHP1 in bone marrows from acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) patients.", "output": {"entities": {"gene": [{"text": "SFRP1", "start": 252, "end": 257}], "disease": [{"text": "chronic leukemia", "start": 95, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Human diffuse large B-cell lymphomas (DLBCLs) often aberrantly express oncogenes that generally contain complex secondary structures in their 5' untranslated region (UTR).", "output": {"entities": {"gene": [{"text": "UTR", "start": 166, "end": 169}], "disease": [{"text": "secondary", "start": 112, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for hypertension, diabetes, hypertriglyceridemia, and hypercholesterolemia, MMP2-1306 T allele carriers (CT + TT) also had a significantly increased risk of RVO (B = 1. 453; p < 0. 001; odds ratio = 4. 275; 95% CI: 2. 529-7. 224).", "output": {"entities": {"gene": [{"text": "MMP2", "start": 92, "end": 96}], "disease": [{"text": "hypertriglyceridemia", "start": 44, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The increase in pulmonary microvascular leakage after reperfusion was also prevented by GTN: BAL protein without GTN was 992 micrograms ml-1 and with GTN 579 micrograms ml-1; BAL neutrophil count without GTN was 3219 cells mm-3 and with GTN 820 cells mm-3; the wet: dry lung weight ratio without GTN was 3. 8 and with GTN 3. 3.", "output": {"entities": {"gene": [{"text": "ml-1", "start": 136, "end": 140}], "disease": [{"text": "weight", "start": 275, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the clinical data linking IGFBP-2 expression to poor prognosis may arise, at least in part, because high levels of IGFBP-2 expression correlate with loss of function of PTEN, which is well known to lead to aggressive behavior of gliomas.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 196, "end": 200}], "disease": [{"text": "aggressive behavior", "start": 233, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "In hypoxia conditions, VEGF expression level in Hep3B cell was suppressed, while that in SNU387 cell was increased by NS-398 (P < 0. 001).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 23, "end": 27}], "disease": [{"text": "hypoxia", "start": 3, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "A comparison of the laboratory features of JAK2 V617-positive and JAK2 wild-type ET patients clearly showed that JAK2 V617-positive ET is characterized by higher values for hemoglobin, hematocrit, and neutrophil counts; lower values for serum erythropoietin (EPO) levels, serum ferritin, and mean corpuscular volume; and by increased cellularity of the bone marrow in biopsy material.", "output": {"entities": {"gene": [{"text": "EPO", "start": 259, "end": 262}], "disease": [{"text": "hemoglobin", "start": 173, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, radiation suppresses miR-205 expression through ataxia telangiectasia mutated (ATM) and zinc finger E-box binding homeobox 1 (ZEB1).", "output": {"entities": {"gene": [{"text": "ZEB1", "start": 143, "end": 147}], "disease": [{"text": "telangiectasia", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Enhanced in-vitro and in-vivo suppression of A375 melanoma by combined IL-24/OSM adenoviral-mediated gene therapy.", "output": {"entities": {"gene": [{"text": "OSM", "start": 77, "end": 80}], "disease": [{"text": "melanoma", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We report an elderly patient who presented with primary myelofibrosis (MF) with myeloid metaplasia (MMM), associated with idic (17) (p11. 2) as the sole chromosomal abnormality, making this the first idic (17) (p11. 2) myeloproliferative case reported in which the breakpoints are mapped to the breakpoint cluster region in proximal 17p.", "output": {"entities": {"gene": [{"text": "p11", "start": 133, "end": 136}], "disease": [{"text": "chromosomal abnormality", "start": 153, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The promoter hypermethylation and expression of sFRP and WIF-1 genes in different stages of colorectal tumor and colorectal cancer cell lines were detected by methylation-specific PCR and reverse transcription PCR, respectively.", "output": {"entities": {"gene": [{"text": "WIF-1", "start": 57, "end": 62}], "disease": [{"text": "colorectal cancer", "start": 113, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WIF-1", "start": 57, "end": 62}, "tail": {"text": "colorectal cancer", "start": 113, "end": 130}}]}}, "schema": []}
{"input": "Requirement of nuclear factor-kappaB in angiotensin II-and isoproterenol-induced cardiac hypertrophy in vivo.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 40, "end": 54}], "disease": [{"text": "cardiac hypertrophy", "start": 81, "end": 100}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 40, "end": 54}, "tail": {"text": "cardiac hypertrophy", "start": 81, "end": 100}}]}}, "schema": []}
{"input": "The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.", "output": {"entities": {"gene": [{"text": "ATP-binding cassette transporter 1", "start": 18, "end": 52}], "disease": [{"text": "Tangier disease", "start": 67, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP-binding cassette transporter 1", "start": 18, "end": 52}, "tail": {"text": "Tangier disease", "start": 67, "end": 82}}]}}, "schema": []}
{"input": "Genetic variations in the leptin receptor (LEPR) gene have been conceived to affect body weight in general populations.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 43, "end": 47}], "disease": [{"text": "body weight", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Pretherapeutic low IL-10 (& lt; 24. 1 pg/ml) and high IL-12 (& gt; 5500 pg/ml) levels were significantly associated with mucositis causing a therapy interruption or even cessation.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 19, "end": 24}], "disease": [{"text": "mucositis", "start": 121, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-10", "start": 19, "end": 24}, "tail": {"text": "mucositis", "start": 121, "end": 130}}]}}, "schema": []}
{"input": "Such R-loops trigger genome instability and facilitate deamination by human AID.", "output": {"entities": {"gene": [{"text": "AID", "start": 76, "end": 79}], "disease": [{"text": "genome instability", "start": 21, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The ERK1/2 signaling pathway plays an important role in the early stage of reactive astrogliosis in mice with pilocarpine-induced SE.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 4, "end": 8}], "disease": [{"text": "astrogliosis", "start": 84, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK1", "start": 4, "end": 8}, "tail": {"text": "astrogliosis", "start": 84, "end": 96}}]}}, "schema": []}
{"input": "The high-risk genotype at GABRA2 was also related to a decreased likelihood of marrying and an increased likelihood of divorce, which appeared to be mediated in part by personality characteristics.", "output": {"entities": {"gene": [{"text": "GABRA2", "start": 26, "end": 32}], "disease": [{"text": "personality characteristics", "start": 169, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Pyrosequencing of IDH1 and IDH2 mutations in brain tumors and non-neoplastic conditions.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 18, "end": 22}], "disease": [{"text": "non-neoplastic", "start": 62, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "For instance, several molecular alterations have been defined as \" driver mutations, \" such as mutations in epidermal growth factor receptor (EGFR), Kirsten-rous avian sarcoma (KRAS), and a chromosome 2p inversion producing an EML4-ALK fusion gene (echinoderm microtubule-associated protein-like 4 fused with the anaplastic lymphoma kinase).", "output": {"entities": {"gene": [{"text": "anaplastic lymphoma kinase", "start": 313, "end": 339}], "disease": [{"text": "avian sarcoma", "start": 162, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "As far as we know, this is the first experimental evidence that the absence of dystrophin causes the complete loss of a still unknown laminin-alpha2-dependent adhesion force, therefore suggesting that the primary consequence of Duchenne dystrophy consists of the loss of an authentic mechanical linkage at the level of the alpha-dystroglycan/basal lamina interface.", "output": {"entities": {"gene": [{"text": "alpha-dystroglycan", "start": 323, "end": 341}], "disease": [{"text": "adhesion", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "HIF induction was observed in culture in the osteoblastic MG-63 cell line, primary GCTB stromal cells, and monocyte-derived osteoclasts following stimulation with hypoxia (0. 1% O2) or the osteoclastogenic cytokines hepatocyte growth factor (HGF) and macrophage colony-stimulating factor (M-CSF).", "output": {"entities": {"gene": [{"text": "M-CSF", "start": 289, "end": 294}], "disease": [{"text": "hypoxia", "start": 163, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Combining microarray gene expression data and public gene sequence information, we identified CLOCK as 1 of 790 putative novel microsatellite instability (MSI) target genes.", "output": {"entities": {"gene": [{"text": "CLOCK", "start": 94, "end": 99}], "disease": [{"text": "microsatellite instability", "start": 127, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Several new roles for NCC in the regulation of sodium, potassium, and blood pressure have been unraveled recently.", "output": {"entities": {"gene": [{"text": "NCC", "start": 22, "end": 25}], "disease": [{"text": "blood pressure", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The LTBDH/PGR gene was expressed in lung cancer cell lines through recombinant adenovirus infection, and through a tetracycline-inducible expression system.", "output": {"entities": {"gene": [{"text": "PGR gene", "start": 10, "end": 18}], "disease": [{"text": "adenovirus infection", "start": 79, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results suggest that γ-H2AX is a physiological substrate of PP6, and PP6 is required for HDR and its expression may harbor a protective role during the development of breast cancer.", "output": {"entities": {"gene": [{"text": "PP6", "start": 80, "end": 83}], "disease": [{"text": "breast cancer", "start": 187, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "It also indicates the important role of VEGF and HIF-1 in ovarian tumorigenesis and angiogenesis, which is mediated by the PI3K/AKT/HDM2 and AKT/p70S6K1 pathways in ovarian cancer cells.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 49, "end": 54}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The results imply an alternative way in treating breast tumor as the AS against Glut5, unlike tamoxifen, takes effect on breast tumor cells via suppressing the expression of Glut5 that they specifically possess, and regardless whether the breast tumors are estrogen dependent or not.", "output": {"entities": {"gene": [{"text": "Glut5", "start": 80, "end": 85}], "disease": [{"text": "breast tumor", "start": 49, "end": 61}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Glut5", "start": 80, "end": 85}, "tail": {"text": "breast tumor", "start": 49, "end": 61}}]}}, "schema": []}
{"input": "While hypoxia increases phospho-STAT3, Hif1α, and CBP/p300 recruitment as a transcriptional complex within the VEGF promoter, melatonin 1 mM decreases their physical interaction.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 111, "end": 115}], "disease": [{"text": "hypoxia", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that EMT induction promotes CSC traits and cell proportions in the thyroid cancer cells, which implies that EMT could induce cancer stem cell generation and tumor progression in thyroid cancers.", "output": {"entities": {"gene": [{"text": "EMT", "start": 28, "end": 31}], "disease": [{"text": "tumor progression", "start": 180, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "By inter-group comparison, expression of TNF-α, IFN-γ of granulomas in the hyperplasia group was significantly higher than that of the necrosis group, while the expression of TGF-β, IL-4 of granulomas in the necrosis group was significantly higher than that of the hyperplasia group.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 175, "end": 180}], "disease": [{"text": "necrosis", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "In comparison, weak or no expression of TfR1 was observed in carcinoma samples of Dukes C or D grade with poorly differentiated cells and in carcinoma samples that had lymph node infiltration and distant metastasis.", "output": {"entities": {"gene": [{"text": "TfR1", "start": 40, "end": 44}], "disease": [{"text": "carcinoma", "start": 61, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "PKD2 activation by hypoxia and its role for hypoxia-induced NR4/TR3-and VEGF-A promoter activity, expression and secretion was investigated in cell lines.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 72, "end": 78}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The basic objective of this study was to investigate the effects of TNF-α on the cell viability and apoptosis of hepatocellular carcinoma cells under serum starvation, and to identify the molecular mechanisms involved.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 68, "end": 73}], "disease": [{"text": "starvation", "start": 156, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Saline-treated rats showed sporadic CC10 staining in central airways and abundant staining in bronchioles.", "output": {"entities": {"gene": [{"text": "CC10", "start": 36, "end": 40}], "disease": [{"text": "sporadic", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.", "output": {"entities": {"gene": [{"text": "DDHD1", "start": 95, "end": 100}], "disease": [{"text": "ASD", "start": 194, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DDHD1", "start": 95, "end": 100}, "tail": {"text": "ASD", "start": 194, "end": 197}}]}}, "schema": []}
{"input": "Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.", "output": {"entities": {"gene": [{"text": "platelet membrane glycoprotein Ib alpha", "start": 27, "end": 66}], "disease": [{"text": "Bernard-Soulier syndrome", "start": 91, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "platelet membrane glycoprotein Ib alpha", "start": 27, "end": 66}, "tail": {"text": "Bernard-Soulier syndrome", "start": 91, "end": 115}}]}}, "schema": []}
{"input": "The data suggests that frequent and persistent TTV infection through blood transfusion is associated with hepatic dysfunction and/or damage in transfusion dependent thalassemia patients.", "output": {"entities": {"gene": [{"text": "TTV", "start": 47, "end": 50}], "disease": [{"text": "hepatic dysfunction", "start": 106, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Post-translational regulated and hypoxia-responsible VEGF plasmid for efficient secretion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 53, "end": 57}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The MTD was defined at 7. 5 to 9 microg/kg; DLT included severe fatigue, neurotoxicity, liver function abnormalities, and myelosuppression.", "output": {"entities": {"gene": [{"text": "DLT", "start": 44, "end": 47}], "disease": [{"text": "myelosuppression", "start": 122, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas.", "output": {"entities": {"gene": [{"text": "MYH", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "A constitutional translocation t (1; 17) (p36. 2; q11. 2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes.", "output": {"entities": {"gene": [{"text": "NBPF1", "start": 104, "end": 109}], "disease": [{"text": "translocation", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Long-term increasing co-localization of SCN8A and ankyrin-G in rat hippocampal cornu ammonis 1 after pilocarpine induced status epilepticus.", "output": {"entities": {"gene": [{"text": "SCN8A", "start": 40, "end": 45}], "disease": [{"text": "status epilepticus", "start": 121, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SCN8A", "start": 40, "end": 45}, "tail": {"text": "status epilepticus", "start": 121, "end": 139}}]}}, "schema": []}
{"input": "The ST3 and BM-40/SPARC transcripts were overexpressed in primary colorectal cancers and their liver metastases compared to non-neoplastic mucosa.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 18, "end": 23}], "disease": [{"text": "non-neoplastic", "start": 124, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that Erk1 positively regulates osteoclast development and bone resorptive activity, as genetic disruption of Erk1 reduced osteoclast progenitor cell numbers, compromised pit formation, and diminished M-CSF-mediated adhesion and migration.", "output": {"entities": {"gene": [{"text": "Erk1", "start": 20, "end": 24}], "disease": [{"text": "adhesion", "start": 230, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Interaction of secreted heat-shock protein 70 (Hsp70)-Hsp90-organizing protein (HOP) with cellular prion protein (PrP (C)) triggers a large number of trophic effects in the nervous system.", "output": {"entities": {"gene": [{"text": "HOP", "start": 80, "end": 83}], "disease": [{"text": "nervous system", "start": 173, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Our purpose was to investigate the effect of COMT Val158Met on personality traits from adolescence to young adulthood in a population representative Caucasian birth cohort.", "output": {"entities": {"gene": [{"text": "COMT", "start": 45, "end": 49}], "disease": [{"text": "personality traits", "start": 63, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Consistently, siRNA-SPHK1 and sphingosine kinase inhibitor (SKI) effectively blocked the expression of HIF-1α, phospho-AKT and vascular endothelial growth factor (VEGF) production in PC-3 cells under hypoxia, suggesting the role of SPHK1 in melatonin-inhibited HIF-1α accumulation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 163, "end": 167}], "disease": [{"text": "hypoxia", "start": 200, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.", "output": {"entities": {"gene": [{"text": "TRAPPC4", "start": 48, "end": 55}], "disease": [{"text": "intellectual disability", "start": 93, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRAPPC4", "start": 48, "end": 55}, "tail": {"text": "intellectual disability", "start": 93, "end": 116}}]}}, "schema": []}
{"input": "This study aims to analyse the expression of Notch3, Notch4 and HES1 and HES6 as Notch-target genes in HCC, matched non-neoplastic tissue and HEPG2 cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 103, "end": 106}], "disease": [{"text": "non-neoplastic", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "There were no significant relationships between the COMT and 5HTR2A polymorphisms and age of onset, gender, presence of agoraphobia, or PAS scores in the PD group (p > 0. 05).", "output": {"entities": {"gene": [{"text": "COMT", "start": 52, "end": 56}], "disease": [{"text": "agoraphobia", "start": 120, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have demonstrated that certain types of necrosis are regulated and programmed dependent on the activation of receptor-interacting serine/threonine-protein kinase (RIPK) 1 and 3 which may be negatively regulated by Fas-associated protein with death domain (FADD).", "output": {"entities": {"gene": [{"text": "serine/threonine-protein kinase", "start": 145, "end": 176}], "disease": [{"text": "necrosis", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21. 3 as novel candidate genes for autism.", "output": {"entities": {"gene": [{"text": "TRIP8", "start": 43, "end": 48}], "disease": [{"text": "autism", "start": 117, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRIP8", "start": 43, "end": 48}, "tail": {"text": "autism", "start": 117, "end": 123}}]}}, "schema": []}
{"input": "Our findings highlight a unique role of SPI1 fusions in high-risk pediatric T-ALL.", "output": {"entities": {"gene": [{"text": "SPI1", "start": 40, "end": 44}], "disease": [{"text": "T-ALL", "start": 76, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SPI1", "start": 40, "end": 44}, "tail": {"text": "T-ALL", "start": 76, "end": 81}}]}}, "schema": []}
{"input": "While essential for immunoglobulin gene diversification, AID misregulation can result in genomic instability and oncogenic transformation.", "output": {"entities": {"gene": [{"text": "AID", "start": 57, "end": 60}], "disease": [{"text": "genomic instability", "start": 89, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The degree of retinal damage was assessed morphologically by measuring the thickness of the inner retinal layers as well as functionally by electroretinography (ERG).", "output": {"entities": {"gene": [{"text": "ERG", "start": 161, "end": 164}], "disease": [{"text": "retinal damage", "start": 14, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The significant independent risk factors for oral and pharyngeal cancer overall among moderate-to-heavy drinkers were inactive ALDH2 * 1/* 2, less-active ADH1B * 1/* 1, frequent drinking of strong alcohol beverages straight, smoking, and lower intake of green-yellow vegetables.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 127, "end": 132}], "disease": [{"text": "smoking", "start": 225, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.", "output": {"entities": {"gene": [{"text": "Espin", "start": 24, "end": 29}], "disease": [{"text": "nonsyndromic hearing loss", "start": 62, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Espin", "start": 24, "end": 29}, "tail": {"text": "nonsyndromic hearing loss", "start": 62, "end": 87}}]}}, "schema": []}
{"input": "At the exposure times studied (30-90 min) hypoxia does not affect expression of the MCP-1 receptor CCR2B and cells exposed to hypoxia still respond to MCP-1 with an elevation of intracellular calcium.", "output": {"entities": {"gene": [{"text": "CCR2B", "start": 99, "end": 104}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "This study evaluates the relationship of six polymorphisms found in the CHRNA3, DRD2 and COMT genes with nicotine dependence, the ability to quit smoking and the occurrence of withdrawal symptoms after short-term use of nicotine patch in hospitalized patients.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 80, "end": 84}], "disease": [{"text": "smoking", "start": 146, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "A patient with acute monoblastic leukemia (M5A-FAB) with a karyotype 48, XX, + 2, + 8, t (9; 11) (p21; q22) is reported.", "output": {"entities": {"gene": [{"text": "p21", "start": 98, "end": 101}], "disease": [{"text": "acute monoblastic leukemia", "start": 15, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Activation-induced cytidine deaminase (AID) produces widespread somatic mutation in mature B cells; however, the extent of \" off-target \" DSB formation and its role in translocation-associated malignancy is unknown.", "output": {"entities": {"gene": [{"text": "AID", "start": 39, "end": 42}], "disease": [{"text": "translocation", "start": 168, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Our findings thus demonstrate for the first time that EGR1 is a key player in the transcriptional control of miR-20b, and miR-20b may in turn function as an oncogene by contributing to breast tumorigenesis via tumor suppressor targeting.", "output": {"entities": {"gene": [{"text": "EGR1", "start": 54, "end": 58}], "disease": [{"text": "tumorigenesis", "start": 192, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Purified TSP proteolytic fragments containing either the N-terminal heparin-binding domain, or the type 1, 2, or 3 repeats, failed to sustain SS-RBC adhesion (< 10% adhesion).", "output": {"entities": {"gene": [{"text": "TSP", "start": 9, "end": 12}], "disease": [{"text": "adhesion", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we examined the parallel effects of urocortin-and hydralazine-induced hypotension on acute inflammation induced by carrageenin in the rat.", "output": {"entities": {"gene": [{"text": "urocortin", "start": 47, "end": 56}], "disease": [{"text": "hypotension", "start": 81, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "urocortin", "start": 47, "end": 56}, "tail": {"text": "hypotension", "start": 81, "end": 92}}]}}, "schema": []}
{"input": "Moreover, TGN is a potent therapeutic candidate for targeting the crosstalk between Nrf2/HO-1 and the NF-κB signaling pathway in the prevention or treatment of inflammation-associated diseases.", "output": {"entities": {"gene": [{"text": "TGN", "start": 10, "end": 13}], "disease": [{"text": "inflammation", "start": 160, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "BRCA1 contains several functional domains that directly or indirectly interact with a variety of proteins via protein-protein interaction; these include tumor suppressors (BRCA2, p53, Rb and ATM), oncogenes (c-Myc, casein kinase II and E2F), DNA damage repair proteins (RAD50 and RAD51), cell cycle regulators (cyclins and cyclin dependent kinases), transcriptional activators and repressors (RNA polymerase II, RHA, histone deacetylase complex and CtIP), DNA damage-sensing complex and mismatch repair proteins (BRCA1-Associated Surveillance Complex; BASC) and signal transducer and activator of transcription (STAT) among others Formation of foci containing BRCA1 by inherited mutations, or epigenetic mechanisms (promoter methylation) in sporadic cancers leads to a loss of DNA repair ability, disrupts the potential to form complexes with other proteins that are crucial for DNA repair pathways.", "output": {"entities": {"gene": [{"text": "RHA", "start": 412, "end": 415}], "disease": [{"text": "sporadic", "start": 741, "end": 749}]}, "relations": {}}, "schema": []}
{"input": "Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.", "output": {"entities": {"gene": [{"text": "Mks1", "start": 0, "end": 4}], "disease": [{"text": "MKS", "start": 115, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Mks1", "start": 0, "end": 4}, "tail": {"text": "MKS", "start": 115, "end": 118}}]}}, "schema": []}
{"input": "ESA +/CD133 +/lin-tumor cells were selected by flow cytometry from glioma tissues, and the periostin expression in ESA +/CD133 +/lin-tumor cells and non-ESA +/CD133 +/lin-tumor cells was detected by quantitative real-time polymerase chain reaction (RT-PCR) and Western blot analysis.", "output": {"entities": {"gene": [{"text": "ESA", "start": 0, "end": 3}], "disease": [{"text": "glioma", "start": 67, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Because cannabinoid receptor agonists are capable of reducing proliferation and inducing apoptosis in diverse cancer cells such as glioma, breast cancer, and melanoma, we evaluated whether CB1 is a potential drug target in rhabdomyosarcoma.", "output": {"entities": {"gene": [{"text": "CB1", "start": 189, "end": 192}], "disease": [{"text": "rhabdomyosarcoma", "start": 223, "end": 239}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB1", "start": 189, "end": 192}, "tail": {"text": "rhabdomyosarcoma", "start": 223, "end": 239}}]}}, "schema": []}
{"input": "The resulting mucosal necrosis does not rapidly heal because of the imbalance of VEGF and angiostatin/endostatin, hence duodenal ulcers develop.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 81, "end": 85}], "disease": [{"text": "necrosis", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "A part of tumor progression can be viewed as a continuum of progressive dedifferentiation (EMT) with a cell at the endpoint that has stem cell-like properties.", "output": {"entities": {"gene": [{"text": "EMT", "start": 91, "end": 94}], "disease": [{"text": "tumor progression", "start": 10, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, both IDO expression on DC and monocytes after IFN-gamma treatment or CTLA-4 treatment were decreased in spontaneous abortion cases.", "output": {"entities": {"gene": [{"text": "IFN", "start": 65, "end": 68}], "disease": [{"text": "spontaneous abortion", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Highly liver-specific heme oxygenase-1 induction by interleukin-11 prevents carbon tetrachloride-induced hepatotoxicity.", "output": {"entities": {"gene": [{"text": "interleukin-11", "start": 52, "end": 66}], "disease": [{"text": "liver", "start": 7, "end": 12}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interleukin-11", "start": 52, "end": 66}, "tail": {"text": "liver", "start": 7, "end": 12}}]}}, "schema": []}
{"input": "Knockdown of endogenous PTPRU in gastric cancer cells using lentivirus-delivered specific shRNA results in the attenuation of cell growth, migration, invasion and adhesion.", "output": {"entities": {"gene": [{"text": "PTPRU", "start": 24, "end": 29}], "disease": [{"text": "adhesion", "start": 163, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The signal transduction pathway for GRP-R and NMB-R involves coupling to a pertussis-toxin insensitive G-protein, activation of phospholipase C (PLC), generation of inositol trisphosphate (IP3), release of intracellular calcium, and activation of protein kinase C. While all three bombesin receptors are activated by bombesin agonists, GRP-R, NMB-R, and BRS-3 have very different affinities for the mammalian bombesin-like peptides GRP and NMB, as well as bombesin receptor antagonists.", "output": {"entities": {"gene": [{"text": "GRP", "start": 36, "end": 39}], "disease": [{"text": "pertussis", "start": 75, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Fundus examination revealed no abnormalities other than myopic changes, and the single bright-flash, mixed rod-cone ERG showed a \" negative-type \" configuration with a reduced normal a-wave and a significantly reduced b-wave amplitude.", "output": {"entities": {"gene": [{"text": "ERG", "start": 116, "end": 119}], "disease": [{"text": "abnormalities", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Expression of VEGF in tumour cells was strongly increased in areas directly adjacent to necrotic/hypoxic regions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 14, "end": 18}], "disease": [{"text": "necrotic", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 189, "end": 194}], "disease": [{"text": "Saethre-Chotzen syndrome", "start": 47, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 189, "end": 194}, "tail": {"text": "Saethre-Chotzen syndrome", "start": 47, "end": 71}}]}}, "schema": []}
{"input": "Sanfilippo syndrome type B [mucopolysaccharidosis IIIB (MPS IIIB] is the most prevalent type of MPS III in Greece, accounting for 81% of all MPS III cases diagnosed at the Institute of Child Health (Athens) over the last 20 years.", "output": {"entities": {"gene": [{"text": "MPS IIIB", "start": 56, "end": 64}], "disease": [{"text": "Sanfilippo syndrome type B", "start": 0, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MPS IIIB", "start": 56, "end": 64}, "tail": {"text": "Sanfilippo syndrome type B", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes are potential candidate genes for schizophrenia, especially in patients with deficits in sustained attention and executive function.", "output": {"entities": {"gene": [{"text": "ZMYND17", "start": 27, "end": 34}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZMYND17", "start": 27, "end": 34}, "tail": {"text": "schizophrenia", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases.", "output": {"entities": {"gene": [{"text": "FUS", "start": 57, "end": 60}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "As a result of this translocation, the SYT gene on chromosome 18 fuses to either the SSX1 or the SSX2 gene on the X chromosome, depending on the exact location of the breakpoint within band Xp11. 2.", "output": {"entities": {"gene": [{"text": "SSX2 gene", "start": 97, "end": 106}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Overall EMMPRIN expression was also found to be significantly higher in the epithelial lining of OKCs than in the other types of cysts.", "output": {"entities": {"gene": [{"text": "EMMPRIN", "start": 8, "end": 15}], "disease": [{"text": "cysts", "start": 129, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The study describes the stress response in the central cotyledon zone of placental tissue and in maternal whole peripheral blood to pregnancy related complications including gestational hypertension (n = 31), preeclampsia w or w/o fetal growth restriction (n = 95), and fetal growth restriction (n = 39) using real-time RT-PCR and genes encoding Hsp27, Hsp60, Hsp70, Hsp90 and HspBP1 proteins.", "output": {"entities": {"gene": [{"text": "Hsp27", "start": 346, "end": 351}], "disease": [{"text": "preeclampsia", "start": 209, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Structural data obtained by design-based stereology to quantify the emphysema-like phenotype and disturbances of the intracellular surfactant were correlated to invasive pulmonary function tests and inflammatory markers including activation markers of alveolar macrophages and compared to SP-D (Sftpd (-/-)) and iNOS single knockout mice (NOS2 (-/-)) as well as wild type (WT) littermates.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 339, "end": 343}], "disease": [{"text": "emphysema", "start": 68, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS2", "start": 339, "end": 343}, "tail": {"text": "emphysema", "start": 68, "end": 77}}]}}, "schema": []}
{"input": "We examined 52 SNPs within the SIRT genes (11 in SIRT1, 7 in SIRT2, 14 in SIRT3, 7 in SIRT4, 9 in SIRT5, and 4 in SIRT6) in 3 independent Japanese populations with type 2 diabetes (study 1: 747 cases (overt proteinuria), 557 controls; study 2: 455 cases (overt proteinuria) and 965 controls; study 3: 300 cases (end-stage renal disease) and 218 controls).", "output": {"entities": {"gene": [{"text": "SIRT4", "start": 86, "end": 91}], "disease": [{"text": "proteinuria", "start": 207, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, skin tumors that spontaneously develop in ODC/Ras bigenic mice typically have substantially more Tip60 protein than adjacent non-tumor-bearing skin and exhibit a unique pattern of Tip60 size variants and chemically modified protein isoforms.", "output": {"entities": {"gene": [{"text": "Tip60", "start": 110, "end": 115}], "disease": [{"text": "skin tumors", "start": 13, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Here, we report a case of an advanced chemotherapy-resistant NSCLC, harboring a novel HER3 (V855A) somatic mutation homologous to the EGFR (L858R) activating mutation.", "output": {"entities": {"gene": [{"text": "HER3", "start": 86, "end": 90}], "disease": [{"text": "somatic mutation", "start": 99, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "A 30 year-old man with a history of recurrent skin infections as well as elevated serum IgE and eosinophils developed neurological symptoms and had T2-hyperintense lesions observed in cerebral MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 193, "end": 196}], "disease": [{"text": "recurrent skin infections", "start": 36, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Loss-of-function defects in DNA mismatch repair (MMR), which manifest as high levels of microsatellite instability (MSI), occur in approximately 15% of all colorectal carcinomas (CRCs).", "output": {"entities": {"gene": [{"text": "MMR", "start": 49, "end": 52}], "disease": [{"text": "microsatellite instability", "start": 88, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The secretion of VEGF under hypoxia was detected by enzyme-linked immunosorbent assay (ELISA).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "At a molecular level, genetic abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HNF4A, HNF1A, SLC16A1, UCP2 and HADH) have been identified which cause CHI.", "output": {"entities": {"gene": [{"text": "ABCC8", "start": 69, "end": 74}], "disease": [{"text": "abnormalities", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We now have also noted that AIDS patients with opportunistic infections have a normal frequency of DR2 and DR5 and a significantly increased frequency of DR3 and that the ultimate clinical expression of AIDS in patients with unexplained lymphadenopathy may depend upon genetic factors associated with these particular DR types.", "output": {"entities": {"gene": [{"text": "DR5", "start": 107, "end": 110}], "disease": [{"text": "opportunistic infections", "start": 47, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Both the patient' s marked sinus dysfunction and his cardiac hypertrophy were suspected to be related to the ACTH therapy.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 109, "end": 113}], "disease": [{"text": "cardiac hypertrophy", "start": 53, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 109, "end": 113}, "tail": {"text": "cardiac hypertrophy", "start": 53, "end": 72}}]}}, "schema": []}
{"input": "For the more common and genetically complex forms of migraine, genome-wide screens have identified several new loci on 4q24, 6p12. 2-21. 1, 11q24, and 14q21. 2-q22. 3, suggesting additional migraine genes in these regions.", "output": {"entities": {"gene": [{"text": "2-21", "start": 131, "end": 135}], "disease": [{"text": "migraine", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Primary erythrocytosis is associated with mutations in the EPOR gene, secondary CE can de due to mutations that stabilize the hemoglobin in the oxygenated form or to mutations in the genes that control the transcriptional activation of the EPO gene-VHL, EGLN1, EPAS1.", "output": {"entities": {"gene": [{"text": "EPAS1", "start": 261, "end": 266}], "disease": [{"text": "erythrocytosis", "start": 8, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Though Rad18 is reported to function in a post replication mismatch repair system, the relation between the status of Rad18 and human tumorigenesis has not been described so far.", "output": {"entities": {"gene": [{"text": "Rad18", "start": 7, "end": 12}], "disease": [{"text": "tumorigenesis", "start": 134, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "With a strong association between FTO gene variants and BMI levels, we further identified an association between rs9939973 or rs9939609 and being overweight both children (P = 0. 025, OR = 1. 47, 95% CI = 1. 05-2. 06; P = 0. 023, OR = 1. 53, 95% CI = 1. 06-2. 22) and adults (P = 0. 018, OR = 1. 10, 95% CI = 1. 02-1. 19; P = 0. 001, OR = 1. 16, 95% CI = 1. 06-1. 27).", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 34, "end": 42}], "disease": [{"text": "overweight", "start": 146, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We found that 15-LOX-1 reexpression in HCT116, HT29LMM, and LoVo colon cancer cells inhibited survival, vascular endothelial growth factor (VEGF) expression, angiogenesis, cancer cell migration and invasion, and HIF-1α protein expression and stability under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 140, "end": 144}], "disease": [{"text": "hypoxia", "start": 258, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Among African American women, the association of breast cancer and smoking was strongest among women with specific combinations of NER genotypes.", "output": {"entities": {"gene": [{"text": "NER", "start": 131, "end": 134}], "disease": [{"text": "smoking", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The only causative genes so far identified for the non-congenital primary lymphoedemas are the transcription factor FOXC2, where mutations are known to produce lymphoedema with distichiasis, and SOX18 in the very rare condition hypotrichosis-lymphoedema-telangiectasia.", "output": {"entities": {"gene": [{"text": "FOXC2", "start": 116, "end": 121}], "disease": [{"text": "telangiectasia", "start": 254, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "A significant number of non-neoplastic T cells (resting CD4 (+) T cells and activated small or medium-sized CD8 (+) lymphocytes) may coexist with a minor neoplastic T cell population.", "output": {"entities": {"gene": [{"text": "CD4", "start": 56, "end": 59}], "disease": [{"text": "non-neoplastic", "start": 24, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "To elucidate whether NAV3 has a role in the tumorigenesis of nervous system tumors in general, we studied central and peripheral nervous system tumors for NAV3 copy number changes.", "output": {"entities": {"gene": [{"text": "NAV3", "start": 21, "end": 25}], "disease": [{"text": "tumorigenesis", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "C5orf30", "start": 21, "end": 28}], "disease": [{"text": "non-small cell lung cancer", "start": 102, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C5orf30", "start": 21, "end": 28}, "tail": {"text": "non-small cell lung cancer", "start": 102, "end": 128}}]}}, "schema": []}
{"input": "We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4.", "output": {"entities": {"gene": [{"text": "LRP4", "start": 104, "end": 108}], "disease": [{"text": "Cenani-Lenz syndrome", "start": 33, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRP4", "start": 104, "end": 108}, "tail": {"text": "Cenani-Lenz syndrome", "start": 33, "end": 53}}]}}, "schema": []}
{"input": "Moreover, the results show that adhesion-induced EGFR activation and EphA2 expression is affected by interactions with extracellular matrix (ECM) proteins working as integrin ligands.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 49, "end": 53}], "disease": [{"text": "adhesion", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p. Ser129Arg mutation destabilizes the & #946; B1/& #946; A3-crystallin heteromer but not the & #946; B1-crystallin homomer.", "output": {"entities": {"gene": [{"text": "CRYBB1", "start": 20, "end": 26}], "disease": [{"text": "cataract-microcornea syndrome", "start": 54, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRYBB1", "start": 20, "end": 26}, "tail": {"text": "cataract-microcornea syndrome", "start": 54, "end": 83}}]}}, "schema": []}
{"input": "The homozygous variants of hOGG1 G2657A, APEX1 D148E and XRCC1 R194W polymorphisms all showed a weak but significant effect on overall survival as demonstrated by either log rank test or multivariate COX regression after adjusting for other potential confounders.", "output": {"entities": {"gene": [{"text": "APEX1", "start": 41, "end": 46}], "disease": [{"text": "regression", "start": 204, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that noradrenergic-regulated plasticity genes such as CAM-L1, laminin, and CREB play an important role both in stress and in the treatment of depression.", "output": {"entities": {"gene": [{"text": "CAM", "start": 75, "end": 78}], "disease": [{"text": "depression", "start": 163, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAM", "start": 75, "end": 78}, "tail": {"text": "depression", "start": 163, "end": 173}}]}}, "schema": []}
{"input": "Kindlin-2 is expressed in a small subset of high-grade invasive bladder cancers and may have potential as a prognostic marker for tumor progression.", "output": {"entities": {"gene": [{"text": "Kindlin-2", "start": 0, "end": 9}], "disease": [{"text": "bladder cancers", "start": 64, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Kindlin-2", "start": 0, "end": 9}, "tail": {"text": "bladder cancers", "start": 64, "end": 79}}]}}, "schema": []}
{"input": "Of the clinicopathologic parameters examined, tumor necrosis (P = 0. 019) and American Joint Committee on Cancer (AJCC) stage (P = 0. 021) correlated significantly with p27 (kip1) LI.", "output": {"entities": {"gene": [{"text": "p27", "start": 169, "end": 172}], "disease": [{"text": "tumor necrosis", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Lower CL/F and higher exposure occurs in female subjects with the ABCB1 3435CC or CT genotype who have greater decreases in blood pressure after treatment with amlodipine.", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 66, "end": 71}], "disease": [{"text": "blood pressure", "start": 124, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Our previous research results showed that both Ras homolog family member C (RhoC) and IQ-domain GTPase-activating protein 1 (IQGAP1) were over-expressed in gastric cancer tissues and cells, but their role in tumorigenensis has not been addressed clearly.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 76, "end": 80}], "disease": [{"text": "gastric cancer", "start": 156, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Here we showed that the development of cervical intraepithelial neoplasia (CIN) and cervical squamous cell carcinoma (CSCC) in Uighur women was accompanied with the partial or total loss of protein expression of HLA-I, ß2-m and APM components, including the transporter associated with antigen processing (TAP1/2), low molecular mass protein (LMP2, LMP7), endoplasmic reticulum aminopeptidase 1 (ERAP1), chaperone molecules include calreticulin (CLR), calnexin (CNX) and ERp57, and this was proved again by analysis of transcription of the same genes in addition to three genes HLA-A, B and C coding for HLA-I.", "output": {"entities": {"gene": [{"text": "TAP1", "start": 306, "end": 310}], "disease": [{"text": "cervical squamous cell carcinoma", "start": 84, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Postmortem, molecular diagnostic confirmed MUL as a novel 1-bp deletion (c. 1233delA) in exon 14 of the TRIM37 coding region.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 104, "end": 110}], "disease": [{"text": "MUL", "start": 43, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIM37", "start": 104, "end": 110}, "tail": {"text": "MUL", "start": 43, "end": 46}}]}}, "schema": []}
{"input": "The alpha (2a)-adrenergic receptor plays a protective role in mouse behavioral models of depression and anxiety.", "output": {"entities": {"gene": [{"text": "alpha (2a)-adrenergic receptor", "start": 4, "end": 34}], "disease": [{"text": "depression", "start": 89, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha (2a)-adrenergic receptor", "start": 4, "end": 34}, "tail": {"text": "depression", "start": 89, "end": 99}}]}}, "schema": []}
{"input": "We first show that the Notch-1 receptor, as well as its downstream target Hes-1, is up-regulated with colon cancer progression, similar to other genes involved in chemoresistance.", "output": {"entities": {"gene": [{"text": "Hes-1", "start": 74, "end": 79}], "disease": [{"text": "colon cancer", "start": 102, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hes-1", "start": 74, "end": 79}, "tail": {"text": "colon cancer", "start": 102, "end": 114}}]}}, "schema": []}
{"input": "TGF-beta also inhibited hypoxia-induced Epo production, but only by as much as 56%.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 0, "end": 8}], "disease": [{"text": "hypoxia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Logic regression identified an interaction involving four SNPs (MBD2-rs4041245, MLH1-rs1799977, MDM2-rs769412, BRCA2-rs1799943) (P (permutation) = 2. 4 × 10 (-3)).", "output": {"entities": {"gene": [{"text": "MBD2", "start": 64, "end": 68}], "disease": [{"text": "regression", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "The rs225017 polymorphism in the 3' UTR of the human DIO2 gene is associated with increased insulin resistance.", "output": {"entities": {"gene": [{"text": "DIO2 gene", "start": 53, "end": 62}], "disease": [{"text": "insulin resistance", "start": 92, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "There was no correlation between expression of the p53 gene and age, sex, tobacco intake, alcoholism, and familiar history of cancer or clinical stage of the disease.", "output": {"entities": {"gene": [{"text": "p53", "start": 51, "end": 54}], "disease": [{"text": "alcoholism", "start": 90, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p53", "start": 51, "end": 54}, "tail": {"text": "alcoholism", "start": 90, "end": 100}}]}}, "schema": []}
{"input": "Overall, the phenotype observed in XHM-ED patients shows that the putative zinc-finger domain of NEMO has a regulatory function and demonstrates the definite requirement of CD40-mediated NF-kappaB activation for B cell immunoglobulin class-switching.", "output": {"entities": {"gene": [{"text": "NEMO", "start": 97, "end": 101}], "disease": [{"text": "XHM-ED", "start": 35, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NEMO", "start": 97, "end": 101}, "tail": {"text": "XHM-ED", "start": 35, "end": 41}}]}}, "schema": []}
{"input": "Localized adhesion (LA) was the most common pattern of adhesion (44. 1%), followed by the aggregative adhesion (AA) (23. 5%) and localized adhesion-like (LAL) (14. 7%) patterns.", "output": {"entities": {"gene": [{"text": "LAL", "start": 154, "end": 157}], "disease": [{"text": "adhesion", "start": 10, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study is to identify colorectal serrated lesions in the inflammatory mucosa of inflammatory bowel disease (IBD), to characterize their molecular status based on BRAF and KRAS mutations, mismatch-repair (MMR) deficiency and microsatellite instability (MSI), and to verify that these molecular alterations are specific to the' serrated neoplasia pathway' in IBD.", "output": {"entities": {"gene": [{"text": "MMR", "start": 223, "end": 226}], "disease": [{"text": "microsatellite instability", "start": 243, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to investigate whether the Gln223Arg in the leptin receptor may influence body weight, leptin concentration, and metabolic parameters in children.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 69, "end": 84}], "disease": [{"text": "body weight", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In this paper, we report the clinical phenotype and molecular analysis of two siblings with severe partial androgen insensitivity due to a novel mutation in the ligand-binding domain of the AR gene.", "output": {"entities": {"gene": [{"text": "AR", "start": 190, "end": 192}], "disease": [{"text": "partial androgen insensitivity", "start": 99, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AR", "start": 190, "end": 192}, "tail": {"text": "partial androgen insensitivity", "start": 99, "end": 129}}]}}, "schema": []}
{"input": "PVRL2 is a plasma cholesterol-responsive gene acting at endothelial sites of vascular inflammation that could potentially be a new therapeutic target for atherosclerosis prevention through its suggested transendothelial migration of leukocytes modulating activity.", "output": {"entities": {"gene": [{"text": "PVRL2", "start": 0, "end": 5}], "disease": [{"text": "atherosclerosis", "start": 154, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PVRL2", "start": 0, "end": 5}, "tail": {"text": "atherosclerosis", "start": 154, "end": 169}}]}}, "schema": []}
{"input": "However, this study adds further evidence that the common genetic background of asthma and JIA is mainly based on polymorphisms in important TH1 and TH2 cytokines.", "output": {"entities": {"gene": [{"text": "TH1", "start": 141, "end": 144}], "disease": [{"text": "asthma", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Genome-wide association study using microsatellite markers suggested SLC23A3, CNPPD1, and FAM134A genes as candidates for schizophrenia susceptibility in the Japanese population.", "output": {"entities": {"gene": [{"text": "SLC23A3", "start": 69, "end": 76}], "disease": [{"text": "schizophrenia", "start": 122, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC23A3", "start": 69, "end": 76}, "tail": {"text": "schizophrenia", "start": 122, "end": 135}}]}}, "schema": []}
{"input": "Two of our patients had associated congenital defects that are known to occur in patients with G6PC3 mutations, including congenital heart disease and intermittent thrombocytopenia.", "output": {"entities": {"gene": [{"text": "G6PC3", "start": 95, "end": 100}], "disease": [{"text": "congenital heart disease", "start": 122, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The results show that the carrageenan-induced edema in the paw elicits an early phase of COX-2 induction in the CNS leading to an increase synthesis in PGD (2), 6-keto-PGF (1alpha), and TXB (2) in addition to the major PGE (2) response.", "output": {"entities": {"gene": [{"text": "PGD", "start": 152, "end": 155}], "disease": [{"text": "edema", "start": 46, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In this study, real-time assay was applied to estimate parasite load in clinical samples of visceral leishmaniasis (VL) and post kala-azar dermal leishmaniasis (PKDL) patients.", "output": {"entities": {"gene": [{"text": "PKDL", "start": 161, "end": 165}], "disease": [{"text": "leishmaniasis", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Adenosine modulates HIF-1 {alpha}, VEGF, IL-8, and foam cell formation in a human model of hypoxic foam cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 35, "end": 39}], "disease": [{"text": "hypoxic", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "At entrance, there was no significant association between FPR1 C32T SNP and blood pressure (BP) in healthy individuals.", "output": {"entities": {"gene": [{"text": "FPR1", "start": 58, "end": 62}], "disease": [{"text": "blood pressure", "start": 76, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "A statistically significant inverse correlation between miR-26b and Nampt expression was observed in samples from colorectal cancer patients and in 5 colorectal cell lines (HT-29, SW480, SW1116, LoVo, and HCT116).", "output": {"entities": {"gene": [{"text": "miR-26b", "start": 56, "end": 63}], "disease": [{"text": "colorectal cancer", "start": 114, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-26b", "start": 56, "end": 63}, "tail": {"text": "colorectal cancer", "start": 114, "end": 131}}]}}, "schema": []}
{"input": "We hypothesize that the inhibition of thromboxane synthase (TXS) induces the death of lung cancer cells and that such inhibition is associated with the nuclear p27 level.", "output": {"entities": {"gene": [{"text": "TXS", "start": 60, "end": 63}], "disease": [{"text": "lung cancer", "start": 86, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Hippocampal sclerosis (HS), focal cortical dysplasia (FCD), and dysembryoplastic neuroepithelial tumor (DNT) were studied by using immunohistochemistry for MVP and BCRP.", "output": {"entities": {"gene": [{"text": "BCRP", "start": 164, "end": 168}], "disease": [{"text": "focal cortical dysplasia", "start": 28, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, we found that short hairpin RNA-mediated depletion of REV3 per se suppresses colony formation of lung (A549, Calu-3), breast (MCF-7, MDA-MB-231), mesothelioma (IL45 and ZL55), and colon (HCT116 +/-p53) tumor cell lines, whereas control cell lines (AD293, LP9-hTERT) and the normal mesothelial primary culture (SDM104) are less affected.", "output": {"entities": {"gene": [{"text": "Calu", "start": 123, "end": 127}], "disease": [{"text": "mesothelioma", "start": 160, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We assessed the expression of Id4 messenger RNA (mRNA) in invasive mammary carcinoma from 31 patients, as well as in 21 cases of ductal carcinoma in situ, in 9 lymph node metastases, and in the morphologically normal epithelium adjacent to the carcinoma from the same subjects.", "output": {"entities": {"gene": [{"text": "Id4", "start": 30, "end": 33}], "disease": [{"text": "ductal carcinoma in situ", "start": 129, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Increased expression was also associated with breast cancer subtypes, and ectopic expression of PHGDH in mammary epithelial cells disrupted acinar morphogenesis and induced other phenotypic alterations that may predispose cells to transformation.", "output": {"entities": {"gene": [{"text": "PHGDH", "start": 96, "end": 101}], "disease": [{"text": "breast cancer", "start": 46, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PHGDH", "start": 96, "end": 101}, "tail": {"text": "breast cancer", "start": 46, "end": 59}}]}}, "schema": []}
{"input": "However, when C patients were subdivided into four subgroups on the basis of presence/absence of 1267B Hsp70-2 and-308A TNF-alpha alleles, B + A + patients showed higher prothrombin activity as well as Hsp70-2, TNF-alpha, IL-6 gene expressions in carotid atheroma when compared to B-A-genotypes.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 120, "end": 129}], "disease": [{"text": "atheroma", "start": 255, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "To explore activities of the ubiquitin ligase E3s WWP1, Smurf1 and Smurf2 in oncogenesis and bone metastasis of prostate cancer, as well as in the functional mechanism of bortezomib in preventing prostate cancer, transcription and expression levels of WWP1, Smurf1 and Smurf2 genes in cell lines or tissues of benign prostate hyperplasia and human prostate cancer with and without bone metastasis were tested.", "output": {"entities": {"gene": [{"text": "WWP1", "start": 50, "end": 54}], "disease": [{"text": "benign prostate hyperplasia", "start": 310, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "Multivariable logistic regression analysis and a stepwise forward selection procedure revealed that nine different polymorphisms were significantly (P < 0. 005) associated with MI among individuals with or without hypertension, hypercholesterolemia, or diabetes mellitus: 1018Cright curved arrow T of GP1BA,-108/3Gright curved arrow 4G of IPF1, 677Cright curved arrow T of MTHFR, and Gright curved arrow A of UTS2 in hypertensive individuals; 2445Gright curved arrow A of FABP2,-108/3Gright curved arrow 4G of IPF1, 677Cright curved arrow T of MTHFR,-11, 377Cright curved arrow G of ACDC, Aright curved arrow G of AKAP10, 11, 496Gright curved arrow A of F7, and 46Cright curved arrow T of F12 in individuals without hypercholesterolemia; 2445Gright curved arrow A of FABP2 in diabetic individuals; and-108/3Gright curved arrow 4G of IPF1 in nondiabetic individuals.", "output": {"entities": {"gene": [{"text": "AKAP10", "start": 614, "end": 620}], "disease": [{"text": "diabetes mellitus", "start": 253, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "In the development of a SMA pig model, it was important to demonstrate that the human SMN2 gene would splice appropriately as the model would be based on the presence of the human SMN2 transgene.", "output": {"entities": {"gene": [{"text": "SMN2", "start": 86, "end": 90}], "disease": [{"text": "SMA", "start": 24, "end": 27}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SMN2", "start": 86, "end": 90}, "tail": {"text": "SMA", "start": 24, "end": 27}}]}}, "schema": []}
{"input": "Interestingly, autophagy was activated in non-TG hearts but significantly inhibited in Hsp20 (S16A) hearts following ischemia/reperfusion.", "output": {"entities": {"gene": [{"text": "Hsp20", "start": 87, "end": 92}], "disease": [{"text": "ischemia", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Myeloperoxidase (MPO) is a heme enzyme, released by activated leukocytes at sites of inflammation, which catalyzes the formation of the potent oxidant, hypochlorous acid (HOCl), from H2O2.", "output": {"entities": {"gene": [{"text": "Myeloperoxidase", "start": 0, "end": 15}], "disease": [{"text": "inflammation", "start": 85, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Myeloperoxidase", "start": 0, "end": 15}, "tail": {"text": "inflammation", "start": 85, "end": 97}}]}}, "schema": []}
{"input": "In contrast, prolonged elevation of RCAN1-1L levels is associated with the types of neurodegeneration observed in several diseases, including Alzheimer disease and Down syndrome.", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 36, "end": 41}], "disease": [{"text": "neurodegeneration", "start": 84, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Schilbach-Rott syndrome associated with 9q22. 32q22. 33 duplication, involving the PTCH1 gene.", "output": {"entities": {"gene": [{"text": "PTCH1", "start": 83, "end": 88}], "disease": [{"text": "Schilbach-Rott syndrome", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTCH1", "start": 83, "end": 88}, "tail": {"text": "Schilbach-Rott syndrome", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "These results suggest an important role for GLI2 in regulating epidermal proliferation and skin tumorigenesis.", "output": {"entities": {"gene": [{"text": "GLI2", "start": 44, "end": 48}], "disease": [{"text": "tumorigenesis", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that patients with nodular bronchiectasis have multiple and/or repeated infections due to MAC whereas patients with upper lobe cavitary disease are usually infected with only a single strain.", "output": {"entities": {"gene": [{"text": "MAC", "start": 113, "end": 116}], "disease": [{"text": "infections", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We describe a case of compound heterozygosity in the MYBPC3 gene (p. Glu258Lys and IVS25-1G > A) associated with biventricular hypertrophy, atrial enlargement and subsequent neonatal death 33 days postpartum.", "output": {"entities": {"gene": [{"text": "MYBPC3 gene", "start": 53, "end": 64}], "disease": [{"text": "neonatal death", "start": 174, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "In addition, activated Ras and dominant negative p53 enhances the hypoxia-induced VEGF protein release.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 82, "end": 86}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Herein, we demonstrate that both inhibition of PKA-dependent CREB phosphorylation, as well as silencing of CREB expression by shRNA, restored AP-2alpha protein expression in two metastatic melanoma cell lines.", "output": {"entities": {"gene": [{"text": "CREB", "start": 61, "end": 65}], "disease": [{"text": "metastatic melanoma", "start": 178, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Our data revealed that p73 participates in WWOX-mediated apoptosis in Jurkat and K562 cells through binding with Wwox in the cytoplasm without a nuclear-cytoplasmic translocation.", "output": {"entities": {"gene": [{"text": "Wwox", "start": 113, "end": 117}], "disease": [{"text": "translocation", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Seven (25%) had API2-MALT1 fusion; all seven lacked aneuploidy except for two with trisomy 3 in a small clone.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 21, "end": 26}], "disease": [{"text": "aneuploidy", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "These irradiated sublines showed reduced levels of epidermal growth factor receptors and unchanged levels of topoisomerase II, but they overexpressed c-erbB2 marginally and heat shock protein 27 significantly.", "output": {"entities": {"gene": [{"text": "epidermal growth factor", "start": 51, "end": 74}], "disease": [{"text": "shock", "start": 178, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Ovarian mucinous adenoma, mucinous tumors of borderline malignancy, and mucinous adenocarcinoma had positive nuclear staining for HNF4 alpha (41/45, 91%).", "output": {"entities": {"gene": [{"text": "HNF4", "start": 130, "end": 134}], "disease": [{"text": "mucinous adenocarcinoma", "start": 72, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We investigated the role of IDO and TDO in patients with recurrent miscarriage.", "output": {"entities": {"gene": [{"text": "IDO", "start": 28, "end": 31}], "disease": [{"text": "recurrent miscarriage", "start": 57, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 78, "end": 82}], "disease": [{"text": "adhesion", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Microarray-based GEP of CRC isolated from eight women undergoing IVF was performed to identify genes differentially expressed between patients with normal ovarian reserve and DOR patients.", "output": {"entities": {"gene": [{"text": "GEP", "start": 17, "end": 20}], "disease": [{"text": "ovarian reserve", "start": 155, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Plasma UII levels were significantly elevated by 1. 8-fold in diabetic patients without proteinuria (7. 8 +/-0. 6 fmol/ml; P < 0. 0001) and 1. 7-fold in those with overt proteinuria (7. 3 +/-0. 9 fmol/ml; P = 0. 0018) when compared with healthy subjects (4. 4 +/-0. 2 fmol/ml).", "output": {"entities": {"gene": [{"text": "UII", "start": 7, "end": 10}], "disease": [{"text": "proteinuria", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Decreased expression of NBPF1 in neuroblastoma cell lines with loss of 1p36 heterozygosity and the marked decrease of anchorage-independent clonal growth of DLD1 colorectal carcinoma cells with induced NBPF1 expression further suggest that NBPF1 functions as tumor suppressor.", "output": {"entities": {"gene": [{"text": "NBPF1", "start": 24, "end": 29}], "disease": [{"text": "colorectal carcinoma", "start": 162, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) chromosomal translocation, which joins the Bcl-2 proto-oncogene to an Ig J (H) gene, has increased prevalence in patients chronically infected with hepatitis C virus (HCV).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 58, "end": 63}], "disease": [{"text": "chromosomal translocation", "start": 15, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Detection of DNA mismatch repair (MMR) deficiencies by immunohistochemistry can effectively diagnose the microsatellite instability (MSI) phenotype in endometrial carcinomas.", "output": {"entities": {"gene": [{"text": "MMR", "start": 34, "end": 37}], "disease": [{"text": "microsatellite instability", "start": 105, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The c-Jun N-terminal kinases (JNKs) are key regulators of inflammation and interfere with insulin action in cultured cells and whole animals.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 4, "end": 9}], "disease": [{"text": "inflammation", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Genetic inactivation of CatB in mice with neuronal expression of familial AD-mutant human amyloid precursor protein (hAPP) increased the relative abundance of Abeta1-42, worsening plaque deposition and other AD-related pathologies.", "output": {"entities": {"gene": [{"text": "CatB", "start": 24, "end": 28}], "disease": [{"text": "plaque", "start": 180, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "However, given its role in EE, the name of the gene has been changed to \" ETHE1. \"", "output": {"entities": {"gene": [{"text": "ETHE1", "start": 74, "end": 79}], "disease": [{"text": "EE", "start": 27, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ETHE1", "start": 74, "end": 79}, "tail": {"text": "EE", "start": 27, "end": 29}}]}}, "schema": []}
{"input": "The CMT1A-REPs are two large directly repeating DNA sequences located on chromosome 17p11. 2-p12 flanking the region duplicated in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and deleted in patients with hereditary neuropathy with liability to pressure palsies (HNPP).", "output": {"entities": {"gene": [{"text": "p12", "start": 93, "end": 96}], "disease": [{"text": "hereditary neuropathy with liability to pressure palsies", "start": 218, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "Subarachnoid hemorrhage (SAH) is a frequent occurrence in cerebrovascular accidents, and inflammation occurs in the subarachnoid space after SAH.", "output": {"entities": {"gene": [{"text": "SAH", "start": 25, "end": 28}], "disease": [{"text": "inflammation", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The FBXO4 tumor suppressor functions as a barrier to BRAFV600E-dependent metastatic melanoma.", "output": {"entities": {"gene": [{"text": "FBXO4", "start": 4, "end": 9}], "disease": [{"text": "metastatic melanoma", "start": 73, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The finding of an appreciable frequency of somatic MLH3 mutations is consistent with a possible role for this gene in the progression of colorectal cancer tumorigenesis.", "output": {"entities": {"gene": [{"text": "MLH3", "start": 51, "end": 55}], "disease": [{"text": "tumorigenesis", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "To investigate the effect of both fermented Cordyceps powder (CS) and prednisone on the Notch2/hes-1 signaling activation in the kidney tubules of rats with acute aristolochic acid nephropathy (AAAN).", "output": {"entities": {"gene": [{"text": "Notch2", "start": 88, "end": 94}], "disease": [{"text": "aristolochic acid nephropathy", "start": 163, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "High frequency of BCL2 translocation in Thai patients with follicular lymphomas.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 18, "end": 22}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.", "output": {"entities": {"gene": [{"text": "LHX3", "start": 157, "end": 161}], "disease": [{"text": "pituitary hormone deficiency", "start": 103, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In addition to well-known factors responsible for both anemia and inadequate response to erythropoietin (EPO), we examined the contribution of the VDR genotype to hematocrit (Hct), hemoglobin (Hb) level, total weekly dose of EPO, and EPO-Hb ratio as an index of patient EPO need.", "output": {"entities": {"gene": [{"text": "EPO", "start": 105, "end": 108}], "disease": [{"text": "hemoglobin", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Conventional cytogenetic analysis revealed complex chromosomal aberrations in all four SET-NUP214 rearranged cases and del (12) (p13)/ETV6 was frequently involved.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 134, "end": 138}], "disease": [{"text": "chromosomal aberrations", "start": 51, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "A phenotypic characteristic of tumors with defective MMR is microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 53, "end": 56}], "disease": [{"text": "microsatellite instability", "start": 60, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Standard G-banding karyotype analysis revealed clonal chromosome abnormalities with the karyotype 42-44, XY,-11,-12,-13,-16,-21,-22, i (8q), inv (14) (q11q32), t (15;?) (p11;?", "output": {"entities": {"gene": [{"text": "p11", "start": 170, "end": 173}], "disease": [{"text": "chromosome abnormalities", "start": 54, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Overall, these results indicated that over-expression of VEGF in the brain exerted a neuroprotective effect and promoted neural functional recovery in neonatal rats after hypoxic-ischemic brain damage, suggesting that in vivo target VEGF gene transfer to brain may be a promising approch for the treatment of such implications.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 57, "end": 61}], "disease": [{"text": "hypoxic", "start": 171, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, hypoxia-induced Notch-1IC, DLL4, hrt-1 and-2 expression were significantly inhibited by WP1066 (p < 0. 05).", "output": {"entities": {"gene": [{"text": "hrt-1", "start": 46, "end": 51}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "The increased expression of L-WNK1 in the DCT results in increased activity of the Na-Cl cotransporter (NCC) and thus hypervolemia and hypertension.", "output": {"entities": {"gene": [{"text": "DCT", "start": 42, "end": 45}], "disease": [{"text": "hypervolemia", "start": 118, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Modest increases in glomerular basement membrane thickness and albuminuria were detected with podocyte foot processes largely preserved, in the absence of podocyte GLUT1 overexpression.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 164, "end": 169}], "disease": [{"text": "albuminuria", "start": 63, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Gene expression analysis using pre-treatment tumor samples supports high ALDH1A3 expression before BRAF/MEK inhibitor treatment as predictive of better treatment response in BRAF-mutant melanoma patients.", "output": {"entities": {"gene": [{"text": "ALDH1A3", "start": 73, "end": 80}], "disease": [{"text": "melanoma", "start": 186, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALDH1A3", "start": 73, "end": 80}, "tail": {"text": "melanoma", "start": 186, "end": 194}}]}}, "schema": []}
{"input": "Conversely, mice with targeted deletion of exon 4A (the first exon for KS-WNK1) exhibited Na (+) retention, elevated blood pressure on a high-Na (+) diet and increased surface expression of total and phosphorylated NCC and NKCC2 in respective nephron segments.", "output": {"entities": {"gene": [{"text": "NCC", "start": 215, "end": 218}], "disease": [{"text": "blood pressure", "start": 117, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "We thus demonstrate that apart from the coding or splice-site variants causing DOPA-responsive dystonia and atypical phenylketonuria, there is a common clinically relevant GCH1 genetics that is so far known to be related to unfavorable changes of endothelial function and a reduced risk for chronic pain.", "output": {"entities": {"gene": [{"text": "GCH1", "start": 172, "end": 176}], "disease": [{"text": "chronic pain", "start": 291, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny.", "output": {"entities": {"gene": [{"text": "ALX3", "start": 17, "end": 21}], "disease": [{"text": "frontorhiny", "start": 153, "end": 164}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALX3", "start": 17, "end": 21}, "tail": {"text": "frontorhiny", "start": 153, "end": 164}}]}}, "schema": []}
{"input": "De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.", "output": {"entities": {"gene": [{"text": "SETD1A", "start": 22, "end": 28}], "disease": [{"text": "Epilepsy", "start": 53, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SETD1A", "start": 22, "end": 28}, "tail": {"text": "Epilepsy", "start": 53, "end": 61}}]}}, "schema": []}
{"input": "To clarify the immunological causes of spontaneous abortion, we examined the relationship between cytotoxic granule proteins in decidual lymphocytes, such as granulysin, granzyme B, and perforin, and the induction of apoptosis in extravillous trophoblasts (EVTs).", "output": {"entities": {"gene": [{"text": "granzyme B", "start": 170, "end": 180}], "disease": [{"text": "spontaneous abortion", "start": 39, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrate that expression of IRS5/DOK4 is frequently altered with both elevated and decreased expression in non-small-cell lung cancer (NSCLC) tumor specimens.", "output": {"entities": {"gene": [{"text": "DOK4", "start": 48, "end": 52}], "disease": [{"text": "tumor", "start": 157, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Persons with ICE and MM genotype showed increased prevalence of pulmonary disorders and same signature as S and Z carriers and homozygotes (see above).", "output": {"entities": {"gene": [{"text": "ICE", "start": 13, "end": 16}], "disease": [{"text": "pulmonary disorders", "start": 64, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We performed exome sequencing on two siblings who had no known pathogenic mutations for DBA and identified a mutation in the gene encoding the hematopoietic transcription factor GATA1.", "output": {"entities": {"gene": [{"text": "transcription factor GATA1", "start": 157, "end": 183}], "disease": [{"text": "DBA", "start": 88, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "transcription factor GATA1", "start": 157, "end": 183}, "tail": {"text": "DBA", "start": 88, "end": 91}}]}}, "schema": []}
{"input": "The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.", "output": {"entities": {"gene": [{"text": "UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "start": 4, "end": 66}], "disease": [{"text": "hereditary inclusion body myopathy", "start": 96, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "start": 4, "end": 66}, "tail": {"text": "hereditary inclusion body myopathy", "start": 96, "end": 130}}]}}, "schema": []}
{"input": "These findings support an important role for TNF-alpha signaling in tumorigenesis and demonstrate that tumors growing in an obese state had significantly different expression levels of TNFR2 and NF-kappaB, proteins known to play a critical role in growth and survival, than those growing in the lean state.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 185, "end": 190}], "disease": [{"text": "tumorigenesis", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Thirteen bone marrow samples and one sample obtained from peripheral blood of 13 leukemia patients were examined by CC, FISH and CGH.", "output": {"entities": {"gene": [{"text": "FISH", "start": 120, "end": 124}], "disease": [{"text": "leukemia", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In addition, we provide evidence that PCAF acetylates hypoxia-inducible factor-1alpha (HIF-1alpha) in hypoxic conditions and that the acetylated HIF-1alpha is recruited to a particular subset of its targets.", "output": {"entities": {"gene": [{"text": "PCAF", "start": 38, "end": 42}], "disease": [{"text": "hypoxic", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The initiation of peritonitis is accompanied by a massive increase in intraperitoneal levels of IL-6.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 96, "end": 100}], "disease": [{"text": "peritonitis", "start": 18, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Intermedin: a novel regulator for vascular remodeling and tumor vessel normalization by regulating vascular endothelial-cadherin and extracellular signal-regulated kinase.", "output": {"entities": {"gene": [{"text": "Intermedin", "start": 0, "end": 10}], "disease": [{"text": "vascular remodeling", "start": 34, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In contrast, incomplete dissociation was detected in the case of FVIII 372-Cys.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 65, "end": 70}], "disease": [{"text": "dissociation", "start": 24, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Unilateral EGF infusion to the striatum lowered prepulse inhibition (PPI) in a dose-dependent manner and impaired latent learning of active shock avoidance without affecting basal learning ability.", "output": {"entities": {"gene": [{"text": "EGF", "start": 11, "end": 14}], "disease": [{"text": "shock", "start": 140, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We propose that the toxic gain-of-function of the polyQ-expanded Htt that causes dysfunction of cellular RNA processing contributes to the pathogenesis of HD.", "output": {"entities": {"gene": [{"text": "Htt", "start": 65, "end": 68}], "disease": [{"text": "HD", "start": 155, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Htt", "start": 65, "end": 68}, "tail": {"text": "HD", "start": 155, "end": 157}}]}}, "schema": []}
{"input": "The hyperplastic response of the fundic mucosa was increased by increasing gastrin doses; whereas, colon cancer hyperplasia was maximal at the lowest dose tested (125 micrograms/kg/day) and did not increase further with increasing doses of hormone.", "output": {"entities": {"gene": [{"text": "gastrin", "start": 75, "end": 82}], "disease": [{"text": "colon cancer", "start": 99, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gastrin", "start": 75, "end": 82}, "tail": {"text": "colon cancer", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "Intravenously transplanted human MSCs induced functional improvement, reduced infarct volume, and neuroprotection in ischemic rats, possibly by providing IGF-1 and inducing VEGF, EGF, and bFGF neurotrophic factors in host brain.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 173, "end": 177}], "disease": [{"text": "infarct", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Cerebral vasospasm after aneurysmal subarachnoid hemorrhage (SAH) has been hypothesized to occur because of both inflammation-mediated sustained contraction of smooth muscle cells and vascular remodeling.", "output": {"entities": {"gene": [{"text": "SAH", "start": 61, "end": 64}], "disease": [{"text": "inflammation", "start": 113, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "In rats pretreated with Ad. VEGF (10 (8) pfu) 2 d before a 2-wk exposure to hypoxia (10% O (2)), lower values versus Ad.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 28, "end": 32}], "disease": [{"text": "hypoxia", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "PDGFRA rearrangement leading to hyper-eosinophilia, T-lymphoblastic lymphoma, myeloproliferative neoplasm and precursor B-cell acute lymphoblastic leukemia.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 0, "end": 6}], "disease": [{"text": "B-cell acute lymphoblastic leukemia", "start": 120, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDGFRA", "start": 0, "end": 6}, "tail": {"text": "B-cell acute lymphoblastic leukemia", "start": 120, "end": 155}}]}}, "schema": []}
{"input": "Furthermore, IL-6 receptor blockade led to a reduction in p27 (Kip1) expression, and allowed the translocation of RAG2 from the nucleus to the cytoplasm.", "output": {"entities": {"gene": [{"text": "Kip1", "start": 63, "end": 67}], "disease": [{"text": "translocation", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Most of these p-ERK5-immunoreactive neurons were small-and medium-sized neurons, which coexpressed transient receptor potential (TRP) ion channel TRPV1 and TRPA1 after noxious heat and cold stimuli, respectively.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 146, "end": 151}], "disease": [{"text": "cold", "start": 185, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations in methyl-directed mismatch repair (MMR) genes give rise to microsatellite instability (MSI) in tumor DNA.", "output": {"entities": {"gene": [{"text": "MMR", "start": 55, "end": 58}], "disease": [{"text": "microsatellite instability", "start": 79, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Human endogenous retrovirus-K18 superantigen expression and human herpesvirus-6 and human herpesvirus-7 viral loads in chronic fatigue patients.", "output": {"entities": {"gene": [{"text": "K18", "start": 28, "end": 31}], "disease": [{"text": "chronic fatigue", "start": 119, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "HCV baseline viral load, IL28B, TGF-β, AQP-2 and LDLR haplotypes were independently associated with SVR.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 32, "end": 37}], "disease": [{"text": "viral load", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "To obtain further information about the role of glial fibrillary acidic protein mutations in Alexander disease, we analyzed 41 new patients and another 3 previously described clinically, including 18 later onset patients.", "output": {"entities": {"gene": [{"text": "glial fibrillary acidic protein", "start": 48, "end": 79}], "disease": [{"text": "Alexander disease", "start": 93, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glial fibrillary acidic protein", "start": 48, "end": 79}, "tail": {"text": "Alexander disease", "start": 93, "end": 110}}]}}, "schema": []}
{"input": "In the present study, we investigated the contribution of AEG-1 to glioma-induced neurodegeneration.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 58, "end": 63}], "disease": [{"text": "neurodegeneration", "start": 82, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Novel SUOX mutations were detected in 3 SOD cases and a novel MOCS2 mutation in 1 MoCD case.", "output": {"entities": {"gene": [{"text": "SUOX", "start": 6, "end": 10}], "disease": [{"text": "SOD", "start": 40, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SUOX", "start": 6, "end": 10}, "tail": {"text": "SOD", "start": 40, "end": 43}}]}}, "schema": []}
{"input": "Lactate was increased and albumin was decreased in patients with acute liver failure compared to healthy controls resulting in normal net metabolic acid-base state.", "output": {"entities": {"gene": [{"text": "albumin", "start": 26, "end": 33}], "disease": [{"text": "acute liver failure", "start": 65, "end": 84}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "albumin", "start": 26, "end": 33}, "tail": {"text": "acute liver failure", "start": 65, "end": 84}}]}}, "schema": []}
{"input": "Our study aimed to investigate whether CAG and GGN polymorphism of the AR gene are associated with acne risk.", "output": {"entities": {"gene": [{"text": "GGN", "start": 47, "end": 50}], "disease": [{"text": "acne", "start": 99, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Ischemic hypoxia is strongly correlated with increased VEGF expression in these systems and is considered a physiologically relevant stimulus.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 55, "end": 59}], "disease": [{"text": "hypoxia", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "To investigate the mechanism of deafness, we generated two lines of transgenic mice overexpressing Diap3, the murine ortholog of DIAPH3, on an FVB/NJ background.", "output": {"entities": {"gene": [{"text": "DIAPH3", "start": 129, "end": 135}], "disease": [{"text": "deafness", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to identify mutations in CHST6 in Japanese patients with MCD and evaluate them by means of immunohistochemistry.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 55, "end": 60}], "disease": [{"text": "MCD", "start": 87, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 55, "end": 60}, "tail": {"text": "MCD", "start": 87, "end": 90}}]}}, "schema": []}
{"input": "Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 73, "end": 77}], "disease": [{"text": "developmental disorder", "start": 40, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the configuration of the T cell receptor (TCR) alpha gene using newly developed genomic joining region (J alpha) probes, which cover approximately 80 kb of the J alpha region upstream from the constant region in 19 patients with T cell acute lymphoblastic leukemia (T-ALL) and in three CD3-leukemic T cell lines (HSB2, CEM, and MOLT4).", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 64, "end": 74}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 253, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "A polymorphism in the microRNA-30e precursor associated with major depressive disorder risk and P300 waveform.", "output": {"entities": {"gene": [{"text": "microRNA-30e", "start": 22, "end": 34}], "disease": [{"text": "major depressive disorder", "start": 61, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "microRNA-30e", "start": 22, "end": 34}, "tail": {"text": "major depressive disorder", "start": 61, "end": 86}}]}}, "schema": []}
{"input": "The diastolic blood pressure (DBP) response differed in relation to the CYP2C9 genotype in patients given irbesartan: the reduction in patients with genotype CYP2C9 * 1/CYP2C9 * 1 (n = 33) was 7. 5% and that with CYP2C9 * 1/CYP2C9 * 2 (n = 12) was 14. 4% (P = 0. 036).", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 72, "end": 78}], "disease": [{"text": "diastolic blood pressure", "start": 4, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "These data combine to suggest that celecoxib mainly uses the mitochondrial pathway rather than FADD pathway to trigger apoptosis of COX-2 expressing murine lupus T cells.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 132, "end": 137}], "disease": [{"text": "lupus", "start": 156, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 132, "end": 137}, "tail": {"text": "lupus", "start": 156, "end": 161}}]}}, "schema": []}
{"input": "These findings indicate that MURC modulates RhoA signaling and that MURC plays an important role in the development of cardiac dysfunction and conduction disturbance with increased vulnerability to atrial arrhythmias.", "output": {"entities": {"gene": [{"text": "MURC", "start": 29, "end": 33}], "disease": [{"text": "atrial arrhythmias", "start": 198, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia is associated with the production of VEGF by nasal fibroblasts and TNF-alpha and endotoxin may act synergistically to enhance VEGF production in paranasal sinuses under hypoxic condition.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 45, "end": 49}], "disease": [{"text": "hypoxic", "start": 177, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "It is possible that other discrete genetic alterations or epigenetic changes, not screened for in this study, could also be responsible for parathyroid tumorigenesis in lithium-associated HPT.", "output": {"entities": {"gene": [{"text": "HPT", "start": 188, "end": 191}], "disease": [{"text": "tumorigenesis", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Positive EGFR (E746-A750del) expression (n = 40/161, 25%) was not associated with any clinicopathological characteristics, prognostic factors, social habits (smoking, alcohol consumption), or tumour-specific survival.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 9, "end": 13}], "disease": [{"text": "smoking", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Hepatoma Hep3B and Huh7 cells displayed stronger ATX expression than hepatoblastoma HepG2 cells and normal hepatocytes did.", "output": {"entities": {"gene": [{"text": "ATX", "start": 49, "end": 52}], "disease": [{"text": "hepatoblastoma", "start": 69, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Mutations in FGFR1/FGF8/PROKR2 contributed to 7. 8% of our patients with CPHD/SOD.", "output": {"entities": {"gene": [{"text": "PROKR2", "start": 24, "end": 30}], "disease": [{"text": "SOD", "start": 78, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PROKR2", "start": 24, "end": 30}, "tail": {"text": "SOD", "start": 78, "end": 81}}]}}, "schema": []}
{"input": "Hypoxia induced TGF-β1 expression in PC3 prostate cancer cells, and the TGF-β type I receptor (ALK5) kinase inhibitor partially blocked hypoxia-mediated VEGFA (165) secretion.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 153, "end": 158}], "disease": [{"text": "hypoxia", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We found that both clarithromycin and dexamethasone up-regulated the production of anti-inflammatory mediators (Clara cell 10-kDa protein and interleukin (IL)-10), whereas down-regulated the production of Th2 response and eosinophilia promoting molecules (thymic stromal lymphopoietin, IL-25, IL-33, CD80, CD86, OX40 ligand, programmed cell death ligand 1, CCL17, CCL22, CCL11, CCL5, IL-5, IL-13, and eosinophilic cationic protein) and Th1 response and neutrophilia promoting molecules (CXCL8, CXCL5, CXCL10, CXCL9, interferon-γ, and IL-12), from sinonasal mucosa from distinct phenotypic CRS.", "output": {"entities": {"gene": [{"text": "CXCL10", "start": 501, "end": 507}], "disease": [{"text": "neutrophilia", "start": 453, "end": 465}]}, "relations": {}}, "schema": []}
{"input": "As an alternate approach, we profiled 65 BLC cases using single-nucleotide polymorphism arrays to define a signature of BRCA1-associated genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 120, "end": 125}], "disease": [{"text": "genomic instability", "start": 137, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Evidence indicates that factor VII plays a role in vivo in both hemostasis and atherogenesis and it might be assumed that factor VII deficiency would both predispose to excessive bleeding and forestall atherosclerosis.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 24, "end": 34}], "disease": [{"text": "atherogenesis", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Twenty percent of patients with Acute Myeloid Leukemia (AML) carry a translocation between chromosomes 21 and chromosome 8 resulting in the formation of a chimeric oncoprotein AML1-ETO.", "output": {"entities": {"gene": [{"text": "AML1", "start": 176, "end": 180}], "disease": [{"text": "translocation", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "By contrast, two patients who received G-CSF with 30 mg/kg of VP-16 developed hyperbilirubinemia and veno-occlusive disease, which terminated this phase I study.", "output": {"entities": {"gene": [{"text": "G-CSF", "start": 39, "end": 44}], "disease": [{"text": "hyperbilirubinemia", "start": 78, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "G-CSF", "start": 39, "end": 44}, "tail": {"text": "hyperbilirubinemia", "start": 78, "end": 96}}]}}, "schema": []}
{"input": "In C. elegans, we demonstrate that RTCB-1 is necessary for xbp-1 (worm homolog of HAC1) mRNA splicing.", "output": {"entities": {"gene": [{"text": "RTCB", "start": 35, "end": 39}], "disease": [{"text": "worm", "start": 66, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Transcript upregulation of anti-oxidative enzymes (Aldh1a1 and Nqo1), cell cycle-related molecules (Cdc20 and Cdkn2b) and inflammation-related molecules including proinflammatory cytokines (Ccl2, Col1a1, Il6, Nos2 and Serpine1) was also evident.", "output": {"entities": {"gene": [{"text": "Col1a1", "start": 196, "end": 202}], "disease": [{"text": "inflammation", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In this report, a 2. 5-kb truncated version of the L-plastin promoter was placed 5' to the E1A gene of a wild-type adenovirus.", "output": {"entities": {"gene": [{"text": "L-plastin", "start": 51, "end": 60}], "disease": [{"text": "adenovirus", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "BP1, a homeoprotein, is significantly expressed in prostate adenocarcinoma and is concordant with prostatic intraepithelial neoplasia.", "output": {"entities": {"gene": [{"text": "BP1", "start": 0, "end": 3}], "disease": [{"text": "prostatic intraepithelial neoplasia", "start": 98, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In Drosophila, Nup107 knockdown in somatic gonadal cells resulted in female sterility, whereas males were fully fertile.", "output": {"entities": {"gene": [{"text": "Nup107", "start": 15, "end": 21}], "disease": [{"text": "female sterility", "start": 69, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "In vitro analysis using minigenes and cycloheximide showed that some selected frameshift mutant alleles are substrates of nonsense-mediated mRNA decay (NMD), confirming that the functional haploinsufficiency of the ELN gene is the main pathomechanism underlying SVAS.", "output": {"entities": {"gene": [{"text": "ELN", "start": 215, "end": 218}], "disease": [{"text": "SVAS", "start": 262, "end": 266}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ELN", "start": 215, "end": 218}, "tail": {"text": "SVAS", "start": 262, "end": 266}}]}}, "schema": []}
{"input": "Consequently, Foxo3-deficient mice exhibited reduced susceptibility to experimental autoimmune encephalomyelitis.", "output": {"entities": {"gene": [{"text": "Foxo3", "start": 14, "end": 19}], "disease": [{"text": "experimental autoimmune encephalomyelitis", "start": 71, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Foxo3", "start": 14, "end": 19}, "tail": {"text": "experimental autoimmune encephalomyelitis", "start": 71, "end": 112}}]}}, "schema": []}
{"input": "AAV-mediated delivery of hIFN-beta when used as monotherapy was able to restrict neuroblastoma growth due in part to inhibition of angiogenesis.", "output": {"entities": {"gene": [{"text": "AAV", "start": 0, "end": 3}], "disease": [{"text": "neuroblastoma", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Thus, Wnt/β-catenin signaling induces transcription and translocation of RUNX1 and ETO fusion gene partners, opening a novel window to understand the onset/development of leukemia.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 73, "end": 78}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Adora2B (f/f)-LysM (Cre) mice presented with attenuated fibrosis, improved lung function, and no evidence of PH compared with control mice exposed to BLM.", "output": {"entities": {"gene": [{"text": "Adora2B", "start": 0, "end": 7}], "disease": [{"text": "fibrosis", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Mesangial cell hypertrophy and p8 induction both require activation of the ERK, JNK/SAPK and PI-3-K pathways.", "output": {"entities": {"gene": [{"text": "ERK", "start": 75, "end": 78}], "disease": [{"text": "hypertrophy", "start": 15, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Here we reported that ischemia/reperfusion significantly elevated Cdc42 activity, enhanced assembly of the Cdc42-MLK3 complex and activation of JNK pathway.", "output": {"entities": {"gene": [{"text": "Cdc42", "start": 66, "end": 71}], "disease": [{"text": "ischemia", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that restoration of wt p53 function in OS cells provides a basis for novel approaches to treatment of this disease.", "output": {"entities": {"gene": [{"text": "p53", "start": 44, "end": 47}], "disease": [{"text": "OS", "start": 60, "end": 62}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "p53", "start": 44, "end": 47}, "tail": {"text": "OS", "start": 60, "end": 62}}]}}, "schema": []}
{"input": "Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.", "output": {"entities": {"gene": [{"text": "NFKB2", "start": 13, "end": 18}], "disease": [{"text": "DAVID", "start": 72, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NFKB2", "start": 13, "end": 18}, "tail": {"text": "DAVID", "start": 72, "end": 77}}]}}, "schema": []}
{"input": "Here, we report that etoposide induced 2. 4 (EI24) has a multifaceted role against tumor progression that is regulated by both EMT and inflammation.", "output": {"entities": {"gene": [{"text": "EMT", "start": 127, "end": 130}], "disease": [{"text": "tumor progression", "start": 83, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "A discriminant function of four miRNAs (miR-140-5p, miR-423-5p, miR-195, and miR-126) was specific for T2D with an accuracy of 89. 2% (P & lt; 0. 0001).", "output": {"entities": {"gene": [{"text": "miR-140", "start": 40, "end": 47}], "disease": [{"text": "T2D", "start": 103, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-140", "start": 40, "end": 47}, "tail": {"text": "T2D", "start": 103, "end": 106}}]}}, "schema": []}
{"input": "We observed a significant positive correlation between layers II and IV of the dorso-lateral prefrontal cortex (DLPFC) in the percentage of MR-GEF expressing neurons in individuals with bipolar disorder, but not in individuals with schizophrenia, major depressive disorder or in controls.", "output": {"entities": {"gene": [{"text": "MR-GEF", "start": 140, "end": 146}], "disease": [{"text": "major depressive disorder", "start": 247, "end": 272}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MR-GEF", "start": 140, "end": 146}, "tail": {"text": "major depressive disorder", "start": 247, "end": 272}}]}}, "schema": []}
{"input": "Mucopolysaccharidosis (MPS) IIIC is an autosomal recessive lysosomal storage disorder caused by a deficiency in heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT).", "output": {"entities": {"gene": [{"text": "HGSNAT", "start": 173, "end": 179}], "disease": [{"text": "lysosomal storage disorder", "start": 59, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.", "output": {"entities": {"gene": [{"text": "cytochrome b", "start": 41, "end": 53}], "disease": [{"text": "histiocytoid cardiomyopathy", "start": 84, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cytochrome b", "start": 41, "end": 53}, "tail": {"text": "histiocytoid cardiomyopathy", "start": 84, "end": 111}}]}}, "schema": []}
{"input": "Furthermore, we examined orthotopic transplantations of the HCC cell lines in C. B-17/Icrj-scid/scid mice and characterized the histologic and cytologic differentiation of the tumors that developed.", "output": {"entities": {"gene": [{"text": "HCC", "start": 60, "end": 63}], "disease": [{"text": "scid", "start": 91, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We showed that treatment with HGF protected hippocampal cornu ammonis (CA) subregion 1 neurons from apoptotic cell death after transient forebrain ischemia.", "output": {"entities": {"gene": [{"text": "HGF", "start": 30, "end": 33}], "disease": [{"text": "ischemia", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.", "output": {"entities": {"gene": [{"text": "BSCL2", "start": 27, "end": 32}], "disease": [{"text": "spastic paraplegia 17", "start": 60, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BSCL2", "start": 27, "end": 32}, "tail": {"text": "spastic paraplegia 17", "start": 60, "end": 81}}]}}, "schema": []}
{"input": "Women with higher than 15% cumulative lifetime risk (CLTR) of breast cancer were screened with biannual clinical breast examination and annual mammography and magnetic resonance imaging (MRI).", "output": {"entities": {"gene": [{"text": "MRI", "start": 187, "end": 190}], "disease": [{"text": "breast cancer", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The prophet of Pit-1 gene (PROP1), a novel pituitary-specific homeodomain factor, has been proved to be one of the causative genes for combined pituitary hormone deficiency (CPHD).", "output": {"entities": {"gene": [{"text": "PROP1", "start": 27, "end": 32}], "disease": [{"text": "pituitary hormone deficiency", "start": 144, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Using flow cytometry, we further demonstrated that there was a reduction in B cells (CD19 +), switched memory B cells (CD27 + IgD-) and T follicular helper (Tfh) cells (both CD4 + CXCR5 + and CD4 + CXCR5Hi) in a CVID patient with NFKB2/p100 & #916; 19, compared to healthy controls.", "output": {"entities": {"gene": [{"text": "NFKB2", "start": 230, "end": 235}], "disease": [{"text": "CVID", "start": 212, "end": 216}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NFKB2", "start": 230, "end": 235}, "tail": {"text": "CVID", "start": 212, "end": 216}}]}}, "schema": []}
{"input": "Apolipoprotein A-I Q [-2] X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.", "output": {"entities": {"gene": [{"text": "Apolipoprotein A-I", "start": 0, "end": 18}], "disease": [{"text": "apolipoprotein A-I deficiency", "start": 45, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Apolipoprotein A-I", "start": 0, "end": 18}, "tail": {"text": "apolipoprotein A-I deficiency", "start": 45, "end": 74}}]}}, "schema": []}
{"input": "This was not specific to PD as OPN protein expression was also decreased in the SN in multiple system atrophy and progressive supranuclear palsy with an identical localisation of the protein.", "output": {"entities": {"gene": [{"text": "OPN", "start": 31, "end": 34}], "disease": [{"text": "multiple system atrophy", "start": 86, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "SCFL is suspected when tumor cells express BCL2 protein, reflecting a BCL2 translocation.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 43, "end": 47}], "disease": [{"text": "translocation", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The study aim was to examine levels of circulating CD4 + CD25 + T cells in patients with rheumatic mitral stenosis, and to evaluate the relationship between regulatory CD4 + CD25 + T-cell count and clinical and echocardiographic measures.", "output": {"entities": {"gene": [{"text": "CD4", "start": 51, "end": 54}], "disease": [{"text": "rheumatic mitral stenosis", "start": 89, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The amounts of CD4 +, CD8 + and CD56 + and ThPOK + cells infiltrate in normal colorectal mucosa (NM), in dysplastic aberrant crypt foci (microadenomas, MA), the earliest detectable lesions in colorectal carcinogenesis, and in colorectal carcinomas (CRC), were measured, and the colocalization of ThPOK with the above-mentioned markers of immune cells was evaluated using confocal microscopy.", "output": {"entities": {"gene": [{"text": "CD4", "start": 15, "end": 18}], "disease": [{"text": "aberrant crypt foci", "start": 116, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Expression of insulin-like growth factor I (IGF-I) gene and of genes for IGF-binding proteins 1, 2, 3, 4 (IGFBP-1-IGFBP-4) in non-neoplastic human thyroid cells and in certain human thyroid cancers. Effect of exogenous IGF-I on this expression.", "output": {"entities": {"gene": [{"text": "IGFBP-4", "start": 114, "end": 121}], "disease": [{"text": "non-neoplastic", "start": 126, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) consists of early bilateral optic atrophy, later development of spasticity, extrapyramidal dysfunction and occasionally cognitive deficits, and urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid.", "output": {"entities": {"gene": [{"text": "MGA", "start": 38, "end": 41}], "disease": [{"text": "3-methylglutaconic aciduria", "start": 9, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In a patient with developmental delay, attention-deficit hyperactivity disorder, psychosis, Tourette' s syndrome and autistic traits, a de novo balanced t (3; 18) translocation truncated ZBTB20.", "output": {"entities": {"gene": [{"text": "ZBTB20", "start": 187, "end": 193}], "disease": [{"text": "psychosis", "start": 81, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Here we report two CMD siblings from a consanguineous family with partial merosin-deficiency in muscle biopsies, severe mental retardation and normal MRI of the brain.", "output": {"entities": {"gene": [{"text": "merosin", "start": 74, "end": 81}], "disease": [{"text": "severe mental retardation", "start": 113, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Genotypes of the alpha-chain of the receptor (GP Ib alpha, 145Thr/Met) were determined in 91 patients with myocardial infarction (MI) or angina pectoris whose lesions were confirmed by coronary angiography as well as in 105 individuals from the general population with no history of angina or other heart diseases and normal resting ECGs.", "output": {"entities": {"gene": [{"text": "alpha-chain", "start": 17, "end": 28}], "disease": [{"text": "angina", "start": 137, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We further used a chondrosarcoma cell line to study the effect of interleukin (IL)-1beta and hypoxia on the regulation of ADAMTS1 and VEGF-A expression.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 134, "end": 140}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The FTO minor allele at rs9939609 has been associated with body mass index (BMI: weight (kg)/height (m) (2)) in children from 5 years onwards, food intake, and eating behaviour.", "output": {"entities": {"gene": [{"text": "FTO", "start": 4, "end": 7}], "disease": [{"text": "height", "start": 93, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "These retroviral vectors were transfected into an amphotropic packaging cell line, PA317 cells, by electroporation, and a human fibrosarcoma cell line, HT1080 cells, was used to assay the factor IX-virus titers of these four virus-producing PA317 cells, which ranged from 2 x 10 (4) to 5 x 10 (5) cfu/ml.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 188, "end": 197}], "disease": [{"text": "fibrosarcoma", "start": 128, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Stable overexpression of AEG1 converted nontumorigenic human HCC cells into highly aggressive vascular tumors, and inhibition of AEG1 abrogated tumorigenesis by aggressive HCC cells in a xenograft model of nude mice.", "output": {"entities": {"gene": [{"text": "AEG1", "start": 25, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Bcl-2 protein expression associated with resistance to apoptosis in clear cell adenocarcinomas of the vagina and cervix expressing wild-type p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 141, "end": 144}], "disease": [{"text": "clear cell adenocarcinomas", "start": 68, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p53", "start": 141, "end": 144}, "tail": {"text": "clear cell adenocarcinomas", "start": 68, "end": 94}}]}}, "schema": []}
{"input": "Tamoxifen-triggered GRK2 deletion impeded further body weight gain, normalized fasting glycemia, improved glucose tolerance, and was associated with preserved insulin sensitivity in skeletal muscle and liver, thereby maintaining whole-body glucose homeostasis.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 20, "end": 24}], "disease": [{"text": "body weight gain", "start": 50, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The hypotension response to acetylcholine and bradykinin studied in anesthetized NO-compromised rats, was unexpectedly enhanced.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 46, "end": 56}], "disease": [{"text": "hypotension", "start": 4, "end": 15}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 46, "end": 56}, "tail": {"text": "hypotension", "start": 4, "end": 15}}]}}, "schema": []}
{"input": "Here we used NPSR1 gene-targeted mice to define the functional role of NPSR1 under basal conditions on locomotion, anxiety-and/or depression-like behavior, corticosterone levels, acoustic startle with prepulse inhibition, learning and memory, and under NPS-induced locomotor activation, anxiolysis, and corticosterone release.", "output": {"entities": {"gene": [{"text": "NPS", "start": 13, "end": 16}], "disease": [{"text": "depression", "start": 130, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPS", "start": 13, "end": 16}, "tail": {"text": "depression", "start": 130, "end": 140}}]}}, "schema": []}
{"input": "However, smoking and gender status could affect the occurrence of EGFR mutation.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 66, "end": 70}], "disease": [{"text": "smoking", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of cardiac remodeling by of PICOT with a concomitant increase in ventricular function and cardiomyocyte contractility suggests that PICOT may provide an efficient modality for treatment of cardiac hypertrophy and heart failure.", "output": {"entities": {"gene": [{"text": "PICOT", "start": 43, "end": 48}], "disease": [{"text": "cardiac hypertrophy", "start": 204, "end": 223}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PICOT", "start": 43, "end": 48}, "tail": {"text": "cardiac hypertrophy", "start": 204, "end": 223}}]}}, "schema": []}
{"input": "The Purkinje cell degeneration (pcd) phenotype is characterized by adult onset neurodegeneration resulting from mutations in Nna1, a gene encoding an intracellular protein with a putative metallocarboxypeptidase domain.", "output": {"entities": {"gene": [{"text": "Nna1", "start": 125, "end": 129}], "disease": [{"text": "neurodegeneration", "start": 79, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nna1", "start": 125, "end": 129}, "tail": {"text": "neurodegeneration", "start": 79, "end": 96}}]}}, "schema": []}
{"input": "Addition of stavudine to the infected aggregates, even in the presence of GM-CSF, reduced p24 levels to zero and prevented neuronal loss and astrocytosis.", "output": {"entities": {"gene": [{"text": "p24", "start": 90, "end": 93}], "disease": [{"text": "astrocytosis", "start": 141, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The products of these genes were: CSF-1 receptor, which is a receptor of inflammatory cytokines that activates monocyte/macrophages; TGF-beta type II receptor, which is a receptor of TGF-betas involved in wound healing and fibrosis; a subunit of Na +/K (+)-ATPase, an amiloride-sensitive cation channel, and a subunit of the potassium channel, all of which regulate the alveolar fluid balance and play a role in clearing lung edema; the adenosine A2a receptor, which has a protective function in the lung and interacts with dopamine D1 and D2 receptors to regulate the function of amiloride-sensitive cation channels; cofilin, which is involved in the depolymerization and cleavage of actin filaments; LIM motif-containing protein kinase 1, which negatively regulates the activity of cofilin; SHPS-1, which regulates the integrin-mediated reorganization of the cytoskeleton; and sodium channel beta 2, which is involved in cell adhesion and migration.", "output": {"entities": {"gene": [{"text": "SHPS-1", "start": 793, "end": 799}], "disease": [{"text": "lung edema", "start": 421, "end": 431}]}, "relations": {}}, "schema": []}
{"input": "In the in vivo focal cerebral ischemia model and the in vitro hypoxic cell culture model with cobalt, BAI2 expression decreased after hypoxia and preceded the increased expression of vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 219, "end": 223}], "disease": [{"text": "hypoxia", "start": 134, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.", "output": {"entities": {"gene": [{"text": "PROP1", "start": 104, "end": 109}], "disease": [{"text": "pituitary hormone deficiency", "start": 43, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR.", "output": {"entities": {"gene": [{"text": "MMR", "start": 82, "end": 85}], "disease": [{"text": "microsatellite instability", "start": 90, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Betel quid (BQ) chewing is an etiologic factor of oral cancer and submucus fibrosis (OSF).", "output": {"entities": {"gene": [{"text": "OSF", "start": 85, "end": 88}], "disease": [{"text": "oral cancer", "start": 50, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "VEGF mRNA was found to be elevated in the peripheral, avascular retina of the untreated eye, consistent with the hypothesis that retinal hypoxia stimulates VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "When DR1 mice were coimmunized with CII and CII (256-276, N (263), D (266)), the incidence and severity of arthritis were greatly reduced, as was the antibody response to CII.", "output": {"entities": {"gene": [{"text": "DR1", "start": 5, "end": 8}], "disease": [{"text": "arthritis", "start": 107, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these studies indicate that podocyte VEGF-A regulates alpha (V) beta (3) integrin signaling in the glomerulus, and that podocyte VEGF knockdown disrupts alpha (V) beta (3) integrin activity via decreased VEGFR2 signaling, thereby damaging the three layers of the glomerular filtration barrier, causing proteinuria and acute renal failure.", "output": {"entities": {"gene": [{"text": "VEGFR2", "start": 218, "end": 224}], "disease": [{"text": "acute renal failure", "start": 332, "end": 351}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aimed to evaluate SRC, LYN and CKB protein and mRNA expression, as well as their promoter methylation, in gastric cancer.", "output": {"entities": {"gene": [{"text": "CKB", "start": 49, "end": 52}], "disease": [{"text": "gastric cancer", "start": 124, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD.", "output": {"entities": {"gene": [{"text": "ATP2A2", "start": 30, "end": 36}], "disease": [{"text": "DD", "start": 172, "end": 174}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2A2", "start": 30, "end": 36}, "tail": {"text": "DD", "start": 172, "end": 174}}]}}, "schema": []}
{"input": "Serum vitamin D metabolites, the renal tubular maximum reabsorptive rate for phosphate (TMP/GFR) nephrogenic cyclic AMP (NcAMPI, and CaE (urinary calcium excretion per litre of glomerular filtrate) were measured in 14 adults with familial hypocalciuric hypercalcaemia (FHH).", "output": {"entities": {"gene": [{"text": "GFR", "start": 92, "end": 95}], "disease": [{"text": "familial hypocalciuric hypercalcaemia", "start": 230, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Importantly, targeting suppression of autophagy by minimally toxic concentrations of pharmacologic inhibitors (hydroxychloroquine and 3-methyladenine) or short hairpin RNAs against autophagy genes, Beclin 1 and Atg5, dramatically augments proapoptotic activity of DNA-damaging chemotherapy both in vitro using MM cell lines or purified patient MM cells and in vivo in a human plasmacytoma xenograft mouse model.", "output": {"entities": {"gene": [{"text": "Beclin 1", "start": 198, "end": 206}], "disease": [{"text": "plasmacytoma", "start": 376, "end": 388}]}, "relations": {}}, "schema": []}
{"input": "Alpha-globin genotype was determined by PCR-based method in 526 adult subjects with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), normal hemoglobin A2 and F, and normal serum iron.", "output": {"entities": {"gene": [{"text": "MCH", "start": 155, "end": 158}], "disease": [{"text": "mean corpuscular volume", "start": 92, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.", "output": {"entities": {"gene": [{"text": "Fas", "start": 26, "end": 29}], "disease": [{"text": "autoimmune lymphoproliferative syndrome", "start": 48, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Fas", "start": 26, "end": 29}, "tail": {"text": "autoimmune lymphoproliferative syndrome", "start": 48, "end": 87}}]}}, "schema": []}
{"input": "We previously isolated the AML1 gene, which is rearranged by the t (8; 21) translocation in acute myeloid leukemia.", "output": {"entities": {"gene": [{"text": "AML1", "start": 27, "end": 31}], "disease": [{"text": "translocation", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Here we report that the inhibitor of apoptosis survivin is expressed in vitro in human prostate cell lines with the highest levels present in aggressive prostate cancer cells such as PC3 and LNCaP-LN3 as well as in vivo in prostatic adenocarcinoma.", "output": {"entities": {"gene": [{"text": "PC3", "start": 183, "end": 186}], "disease": [{"text": "prostatic adenocarcinoma", "start": 223, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Aimed to contribute to the study of nervous plasticity modulation as therapeutical target in mood disorders, the role of the glial-derived factor artemin (ARTN) in depression and in the pharmacodynamics of the antidepressant and trophic compound acetyl-L:-carnitine (ALCAR) was evaluated.", "output": {"entities": {"gene": [{"text": "ARTN", "start": 155, "end": 159}], "disease": [{"text": "nervous", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Among control women, both the FTO rs9939609 A and MC4R rs17782313 C alleles were associated with a 16% increased risk of being overweight (p = 0. 001 and p = 0. 004, respectively).", "output": {"entities": {"gene": [{"text": "FTO", "start": 30, "end": 33}], "disease": [{"text": "overweight", "start": 127, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "High level of microsatellite instability (MSI-H) in colorectal cancer (CRC) is caused by the inactivation of mismatch repair (MMR) genes; however, it is unknown for tumors with low level MSI (MSI-L).", "output": {"entities": {"gene": [{"text": "MMR", "start": 126, "end": 129}], "disease": [{"text": "microsatellite instability", "start": 14, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel frameshift mutation in NR3C1 as the cause of glucocorticoid resistance.", "output": {"entities": {"gene": [{"text": "NR3C1", "start": 45, "end": 50}], "disease": [{"text": "glucocorticoid resistance", "start": 67, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NR3C1", "start": 45, "end": 50}, "tail": {"text": "glucocorticoid resistance", "start": 67, "end": 92}}]}}, "schema": []}
{"input": "We conclude filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations.", "output": {"entities": {"gene": [{"text": "filamin B", "start": 175, "end": 184}], "disease": [{"text": "distal myopathy", "start": 57, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "These genes included CDH1 (cadherin 1, type 1, E-cadherin), CDKN1A (cyclin-dependent kinase inhibitor 1A), CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1), GSTM1 (glutathione S-transferase mu 1), GSTT1 (glutathione S-transferase theta 1), MTHFR (5, 10-methylenetetrahydrofolate reductase), NOS3 (nitric oxide synthase 3), OPA1 (optic atrophy 1), TNF (tumor necrosis factor), and TP53 (tumor protein p53).", "output": {"entities": {"gene": [{"text": "tumor necrosis factor", "start": 366, "end": 387}], "disease": [{"text": "optic atrophy 1", "start": 343, "end": 358}]}, "relations": {}}, "schema": []}
{"input": "Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 41, "end": 62}], "disease": [{"text": "Fabry disease", "start": 111, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 41, "end": 62}, "tail": {"text": "Fabry disease", "start": 111, "end": 124}}]}}, "schema": []}
{"input": "The deficiency of the DNA mismatch repair (MMR) system is involved in tumorigenesis of either familial or sporadic colorectal cancers showing microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 43, "end": 46}], "disease": [{"text": "microsatellite instability", "start": 142, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Here we studied the role of ARHGAP21 in two prostate adenocarcinoma cell lines, LNCaP and PC3, which respectively represent initial and advanced stages of prostate carcinogenesis.", "output": {"entities": {"gene": [{"text": "PC3", "start": 90, "end": 93}], "disease": [{"text": "prostate adenocarcinoma", "start": 44, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In a comprehensive mutational screening, we have analysed the entire coding region of the pM5, MRP1, and NPIP genes in 7 patients affected with pseudoxanthoma elasticum, but failed to find evidence of disease-causing defects in any of these three genes.", "output": {"entities": {"gene": [{"text": "pM5", "start": 90, "end": 93}], "disease": [{"text": "pseudoxanthoma elasticum", "start": 144, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "BRCA1-related breast cancers are characterized by poor prognosis, a low rate of estrogen receptor positivity, and histological predominance of solid-tubular carcinoma.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "tubular carcinoma", "start": 149, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.", "output": {"entities": {"gene": [{"text": "Pax3", "start": 11, "end": 15}], "disease": [{"text": "pigmentation", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.", "output": {"entities": {"gene": [{"text": "TMEM237", "start": 0, "end": 7}], "disease": [{"text": "Joubert syndrome", "start": 41, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM237", "start": 0, "end": 7}, "tail": {"text": "Joubert syndrome", "start": 41, "end": 57}}]}}, "schema": []}
{"input": "Patients with locally recurrent or metastatic, radioiodine-refractory thyroid cancer, excluding medullary carcinoma, were treated with interferon alpha-2b 12 million units/m2 subcutaneously on days 1-5 and doxorubicin 40 mg/m2 intravenously, on day 3, every 28 days.", "output": {"entities": {"gene": [{"text": "interferon alpha-2b", "start": 135, "end": 154}], "disease": [{"text": "thyroid cancer", "start": 70, "end": 84}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interferon alpha-2b", "start": 135, "end": 154}, "tail": {"text": "thyroid cancer", "start": 70, "end": 84}}]}}, "schema": []}
{"input": "Here, we discuss the contribution of EZH2 and the PRC2 complex in controlling the H3K27 methylation status and subsequent consequences on genomic instability and the cell cycle in breast cancer cells.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 37, "end": 41}], "disease": [{"text": "genomic instability", "start": 138, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "No statistical significance was noted for sex, lymphadenopathy, hepatomegaly, splenomegaly, other hematological findings, immunophenotyping and FAB sub-classification except for ERG gene and FAB (p-value = 0. 058).", "output": {"entities": {"gene": [{"text": "FAB", "start": 144, "end": 147}], "disease": [{"text": "hepatomegaly", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Genetic variations in the IL-17A and IL-17F genes may be associated with a risk of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC), which is a typical inflammation-related cancer.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 37, "end": 43}], "disease": [{"text": "inflammation", "start": 166, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking the Tak1 gene in brain endothelial cells showed a blunted fever response and reduced lethargy upon intravenous injection of the endogenous pyrogen IL-1 & #946;.", "output": {"entities": {"gene": [{"text": "IL-1", "start": 160, "end": 164}], "disease": [{"text": "lethargy", "start": 98, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1", "start": 160, "end": 164}, "tail": {"text": "lethargy", "start": 98, "end": 106}}]}}, "schema": []}
{"input": "Elevated alcohol consumption in null mutant mice lacking 5-HT1B serotonin receptors.", "output": {"entities": {"gene": [{"text": "5-HT1B", "start": 57, "end": 63}], "disease": [{"text": "alcohol consumption", "start": 9, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Using different renal cell models and small interfering RNA assays targeting either HIF-1alpha or YC-1, a HIF-1 pharmacologic inhibitor, we showed induction of MUC1 expression under hypoxia by a HIF-dependent mechanism.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 160, "end": 164}], "disease": [{"text": "hypoxia", "start": 182, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "In clinically derived HNSCC samples, CYGB mRNA expression showed a striking correlation with tumour hypoxia (measured by HIF1A mRNA expression P = 0. 013) and consistent associations with histopathological measures of tumour aggression.", "output": {"entities": {"gene": [{"text": "CYGB", "start": 37, "end": 41}], "disease": [{"text": "aggression", "start": 225, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "RNA interference of CCR2 expression in breast cancer cells significantly inhibited CCL2-induced migration, survival, and phosphorylation of Smad3 and p42/44MAPK proteins.", "output": {"entities": {"gene": [{"text": "p42", "start": 150, "end": 153}], "disease": [{"text": "breast cancer", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Support of association between BRD1 and both schizophrenia and bipolar affective disorder.", "output": {"entities": {"gene": [{"text": "BRD1", "start": 31, "end": 35}], "disease": [{"text": "bipolar affective disorder", "start": 63, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRD1", "start": 31, "end": 35}, "tail": {"text": "bipolar affective disorder", "start": 63, "end": 89}}]}}, "schema": []}
{"input": "Of these, four had ankylosing spondylitis and histocompatibility B27 antigen, two had systemic lupus erythematosus (in one case associated with antiphospholipids), one had juvenile rheumatoid arthritis, and one had juvenile dermatomyositis.", "output": {"entities": {"gene": [{"text": "B27", "start": 65, "end": 68}], "disease": [{"text": "juvenile dermatomyositis", "start": 215, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Thus, IL-10 mRNA expression in leukaemic cells from patients with B-CLL was strongly associated with non-progressive disease.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 6, "end": 11}], "disease": [{"text": "non-progressive", "start": 101, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In both fat depots, OCT1 gene expression and protein levels were significantly increased in obese subjects.", "output": {"entities": {"gene": [{"text": "OCT1", "start": 20, "end": 24}], "disease": [{"text": "obese", "start": 92, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OCT1", "start": 20, "end": 24}, "tail": {"text": "obese", "start": 92, "end": 97}}]}}, "schema": []}
{"input": "We find that alterations in CHD7 can result in a very mild phenotype, characterized by only a few minor symptoms of the CHARGE syndrome clinical spectrum.", "output": {"entities": {"gene": [{"text": "CHD7", "start": 28, "end": 32}], "disease": [{"text": "CHARGE syndrome", "start": 120, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHD7", "start": 28, "end": 32}, "tail": {"text": "CHARGE syndrome", "start": 120, "end": 135}}]}}, "schema": []}
{"input": "For example, the oncogenic AML1-ETO protein, which results from a chromosomal translocation between chromosomes 8 and 21, is expressed in nearly 25% of all acute myelogenous leukemias, disrupts Runx1 subnuclear localization during interphase and compromises transcriptional regulation.", "output": {"entities": {"gene": [{"text": "Runx1", "start": 194, "end": 199}], "disease": [{"text": "chromosomal translocation", "start": 66, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Age at diagnosis, family history, and alcohol use did not interact with MSH6 G39E and CIMP.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 72, "end": 76}], "disease": [{"text": "alcohol use", "start": 38, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The suppression of tumorigenesis by IL-27 on lung cancer cells was further confirmed by the treatment with rIL-27 on the murine LLC-1 and human non-small cell lung carcinoma (NSCLC) cell lines.", "output": {"entities": {"gene": [{"text": "IL-27", "start": 36, "end": 41}], "disease": [{"text": "tumorigenesis", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Intravenous administration of HN3-PE38 alone, or in combination with chemotherapy, induces regression of Hep3B and HepG2 liver tumour xenografts in mice.", "output": {"entities": {"gene": [{"text": "HN3", "start": 30, "end": 33}], "disease": [{"text": "regression", "start": 91, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These data provide evidence that human MCC deficiency is caused by mutations in either the MCCA or MCCB gene.", "output": {"entities": {"gene": [{"text": "MCCA", "start": 91, "end": 95}], "disease": [{"text": "MCC deficiency", "start": 39, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCCA", "start": 91, "end": 95}, "tail": {"text": "MCC deficiency", "start": 39, "end": 53}}]}}, "schema": []}
{"input": "Loss of PTEN, an upstream regulator of mTORC1 signaling, along with Lkb1 deletion significantly increased tumor burden in uteri and induced tumorigenesis in the cervix and vagina.", "output": {"entities": {"gene": [{"text": "Lkb1", "start": 68, "end": 72}], "disease": [{"text": "tumorigenesis", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for sex, smoking, stage, histology, and adjuvant treatment, high FGFR1 amplification had a greater risk of recurrence (adjusted hazard ratio [AHR], 1. 6; P = 0. 029) and death (AHR, 1. 53; P = 0. 050).", "output": {"entities": {"gene": [{"text": "AHR", "start": 158, "end": 161}], "disease": [{"text": "smoking", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Optical imaging of atheroma revealed > 100% NIRF signal increases in apolipoprotein E-/-mice in vivo (n = 13; P < 0. 05, CatK imaging agent versus control agent) and in human carotid endarterectomy specimens ex vivo (n = 14; P < 0. 05).", "output": {"entities": {"gene": [{"text": "NIRF", "start": 44, "end": 48}], "disease": [{"text": "atheroma", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females.", "output": {"entities": {"gene": [{"text": "MIM", "start": 19, "end": 22}], "disease": [{"text": "neurological disorder", "start": 43, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "FJB-positive somata were most abundant in the infarct core at 1 DPL, decreased markedly at 3 DPL, and virtually absent by 7 DPL.", "output": {"entities": {"gene": [{"text": "DPL", "start": 64, "end": 67}], "disease": [{"text": "infarct", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Adjusted by age, gender, parent asthma history, and smoking exposure, logistic stepwise analysis showed that MAF of rs4790521, allozygote C/C of rs4790521, and haplotype C/C were associated with susceptibility to childhood asthma in Chinese Han Nationality in Beijing (P < 0. 05).", "output": {"entities": {"gene": [{"text": "MAF", "start": 109, "end": 112}], "disease": [{"text": "childhood asthma", "start": 213, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Lichenoid drug eruptions (LDE) in the oral cavity are adverse drug reactions (ADR) that are impossible to differentiate from oral lichen planus (OLP) as no phenotypic criteria exist.", "output": {"entities": {"gene": [{"text": "LDE", "start": 26, "end": 29}], "disease": [{"text": "oral lichen planus", "start": 125, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To study the activity of telomerase and the expression of human telomerase reverse transcriptase (hTERT) in colorectal carcinoma and its adjacent tissues, normal mucosa and adenomatoid polyp, and to evaluate their relation with carcinogenesis and progression of colorectal carcinoma.", "output": {"entities": {"gene": [{"text": "telomerase reverse transcriptase", "start": 64, "end": 96}], "disease": [{"text": "polyp", "start": 185, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "After excluding 149 persons with glaucoma, male sex, higher IOP, lower diastolic blood pressure, lower body mass index, and diabetes mellitus were significant predictors of greater CDR.", "output": {"entities": {"gene": [{"text": "CDR", "start": 181, "end": 184}], "disease": [{"text": "body mass index", "start": 103, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "One major reason for low FDG uptake in signet-ring cell carcinoma is the low GLUT-1 expression in this histological subtype of gastric cancer.", "output": {"entities": {"gene": [{"text": "FDG", "start": 25, "end": 28}], "disease": [{"text": "signet-ring cell carcinoma", "start": 39, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that the B cell leukemia cell line NALM-6 had the highest susceptibility among a number of leukemia cell lines to spiruchostatin B (SP-B), a potent histone deacetylase (HDAC) inhibitor.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 153, "end": 157}], "disease": [{"text": "leukemia", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Forty-eight hours following tMCAO, a 1. 3-fold larger infarct volume and 1. 3-fold higher NSS were observed in the rAAV-VEGF group than both control groups (p < 0. 05).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 120, "end": 124}], "disease": [{"text": "infarct", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The anti-apoptotic BH3 family gene BCL-XL emerged as a top hit through this approach.", "output": {"entities": {"gene": [{"text": "BCL-XL", "start": 35, "end": 41}], "disease": [{"text": "hit", "start": 59, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Genome wide association studies have revealed HNF1b to be a major risk gene for prostate cancer susceptibility.", "output": {"entities": {"gene": [{"text": "HNF1b", "start": 46, "end": 51}], "disease": [{"text": "prostate cancer susceptibility", "start": 80, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "(S)-nitrosation of Keap1 may contribute to nuclear accumulation of Nrf2 by facilitating its dissociation from Keap1, thus initiating * NO-mediated Nrf2-Keap1 signaling.", "output": {"entities": {"gene": [{"text": "Keap1", "start": 19, "end": 24}], "disease": [{"text": "dissociation", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "This effect of bcl-2 was independent of its antiapoptotic activity because increased expression of VEGF was detected in PC3 cells overexpressing bcl-2 even though PC3 cells are inherently resistant to hypoxia-induced apoptosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 99, "end": 103}], "disease": [{"text": "hypoxia", "start": 201, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.", "output": {"entities": {"gene": [{"text": "alpha-synuclein", "start": 27, "end": 42}], "disease": [{"text": "Lewy body dementia", "start": 64, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-synuclein", "start": 27, "end": 42}, "tail": {"text": "Lewy body dementia", "start": 64, "end": 82}}]}}, "schema": []}
{"input": "Adult PACAP (-/-) mice showed not only hyperactivity, jumping behavior, and depression-like behavior, but also decreased social interaction.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 6, "end": 11}], "disease": [{"text": "depression", "start": 76, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PACAP", "start": 6, "end": 11}, "tail": {"text": "depression", "start": 76, "end": 86}}]}}, "schema": []}
{"input": "In this process, TRIP-Br1 confers resistance to serum starvation-induced cell deaths by stabilizing the XIAP protein and inhibiting cellular ROS production.", "output": {"entities": {"gene": [{"text": "TRIP-Br1", "start": 17, "end": 25}], "disease": [{"text": "starvation", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The 22q11. 2 deletion syndrome (22q11. 2DS) is caused by a microdeletion on chromosome 22, which includes the GPIbβ gene, and is characterized by abnormal development of the pharyngeal apparatus and heart.", "output": {"entities": {"gene": [{"text": "GPIbβ", "start": 110, "end": 115}], "disease": [{"text": "abnormal development", "start": 146, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, inactivation of ERK5 in keratinocytes prevents inflammation-driven tumorigenesis in this model.", "output": {"entities": {"gene": [{"text": "ERK5", "start": 29, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The distribution of mutations within the FLNB gene is non-random, with clusters of mutations leading to substitutions in the actin-binding domain and filamin repeats 13-17 being the most common cause of Larsen syndrome.", "output": {"entities": {"gene": [{"text": "FLNB", "start": 41, "end": 45}], "disease": [{"text": "Larsen syndrome", "start": 203, "end": 218}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLNB", "start": 41, "end": 45}, "tail": {"text": "Larsen syndrome", "start": 203, "end": 218}}]}}, "schema": []}
{"input": "Moreover, L-PGDS is undetectable in most benign nevus cells, which may reflect the marginally accelerated proliferation of nevus cells.", "output": {"entities": {"gene": [{"text": "L-PGDS", "start": 10, "end": 16}], "disease": [{"text": "nevus", "start": 48, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Combination of short CAG and GGN repeats in the androgen receptor gene is associated with acne risk in North East China.", "output": {"entities": {"gene": [{"text": "GGN", "start": 29, "end": 32}], "disease": [{"text": "acne", "start": 90, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that AML1/MDS1/EVI1 (AME), a fusion gene generated by a t (3; 21) (q26; q22) translocation found in patients with chronic myelogenous leukemia during blast phase, myelodysplastic syndrome, or acute myelogenous leukemia (AML), impairs hematopoiesis and eventually induces an AML in mice.", "output": {"entities": {"gene": [{"text": "AML1", "start": 30, "end": 34}], "disease": [{"text": "translocation", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In a murine model of asthma, we found that intranasal application of WSC attenuates Der f-induced lung inflammation by reducing infiltration of inflammatory cells, epithelial damage, and goblet cell hyperplasia and markedly decreasing production of Arg I, iNOs, and thymic stromal lymphopoietin (TSLP) in the bronchial epithelium.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 296, "end": 300}], "disease": [{"text": "hyperplasia", "start": 199, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we investigated whether Gyp induced DNA damage and DNA repair gene expression in human oral cancer SAS cells.", "output": {"entities": {"gene": [{"text": "SAS", "start": 110, "end": 113}], "disease": [{"text": "oral cancer", "start": 98, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Genetic variation in alcohol dehydrogenase (ADH1A, ADH1B, ADH1C, ADH7) and aldehyde dehydrogenase (ALDH2), alcohol consumption and gastric cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort.", "output": {"entities": {"gene": [{"text": "ADH7", "start": 65, "end": 69}], "disease": [{"text": "alcohol consumption", "start": 107, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the effects of dexloxiglumide, a CCK-1 receptor antagonist, on gastrointestinal transit (GIT) and symptoms in patients with constipation-predominant IBS (C-IBS); and to explore the influence of CCK-1 receptor polymorphisms on gut transit and the pharmacodynamic response to therapy.", "output": {"entities": {"gene": [{"text": "CCK", "start": 45, "end": 48}], "disease": [{"text": "constipation", "start": 136, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "However, the exact role of the beta2 toxin in the development of diarrhoea is still unknown.", "output": {"entities": {"gene": [{"text": "beta2", "start": 31, "end": 36}], "disease": [{"text": "diarrhoea", "start": 65, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The experiments indicate that MT3 is an androgen-upregulated gene, and promotes tumorigenesis of prostate carcinoma cells.", "output": {"entities": {"gene": [{"text": "MT3", "start": 30, "end": 33}], "disease": [{"text": "prostate carcinoma", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Therefore, Ser331 in SPTLC1 is a crucial amino acid, which characterizes the HSAN I phenotype.", "output": {"entities": {"gene": [{"text": "SPTLC1", "start": 21, "end": 27}], "disease": [{"text": "HSAN I", "start": 77, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPTLC1", "start": 21, "end": 27}, "tail": {"text": "HSAN I", "start": 77, "end": 83}}]}}, "schema": []}
{"input": "Here, we report that human malignant glioma cell lines express XIAP, HIAP-1 and HIAP-2 mRNA and proteins.", "output": {"entities": {"gene": [{"text": "HIAP-2", "start": 80, "end": 86}], "disease": [{"text": "malignant glioma", "start": 27, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We also show that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27-positive individuals.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 35, "end": 40}], "disease": [{"text": "spondylitis", "start": 181, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "To further define the frequency and spectrum of FUS gene mutations, we have performed a molecular screening of a cohort of 327 Italian patients from Southern Italy with sporadic ALS (SALS).", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 48, "end": 56}], "disease": [{"text": "sporadic", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the effect of SIRT6 on cardiac hypertrophy induced by angiotensin II (AngII) and the underlying molecular mechanisms were investigated.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 76, "end": 90}], "disease": [{"text": "cardiac hypertrophy", "start": 45, "end": 64}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 76, "end": 90}, "tail": {"text": "cardiac hypertrophy", "start": 45, "end": 64}}]}}, "schema": []}
{"input": "A phase II trial of combination chemotherapy and surgical resection for the treatment of metastatic adrenocortical carcinoma: continuous infusion doxorubicin, vincristine, and etoposide with daily mitotane as a P-glycoprotein antagonist.", "output": {"entities": {"gene": [{"text": "P-glycoprotein", "start": 211, "end": 225}], "disease": [{"text": "adrenocortical carcinoma", "start": 100, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P-glycoprotein", "start": 211, "end": 225}, "tail": {"text": "adrenocortical carcinoma", "start": 100, "end": 124}}]}}, "schema": []}
{"input": "Increased IL-4 production by HIV-1 p24-activated immunocompetent cells of patients and a predominant IL-4 response to HIV-1 p24 (with IL-4/IFN-gamma > 1) were positively correlated with an increased viral load.", "output": {"entities": {"gene": [{"text": "p24", "start": 35, "end": 38}], "disease": [{"text": "viral load", "start": 199, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "The decrease of NF-kappaB p65 subunit and up-regulation of IL-2 are potential mechanism of glucocorticoid resistance in SRNS.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 16, "end": 25}], "disease": [{"text": "glucocorticoid resistance", "start": 91, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "When the effects of sertraline were analyzed in relation to the 5-HTTLPR polymorphism, only patients with the \" l/l \" allelic variant had significantly lower scores of HADS anxiety, Mini-MAC hopelessness-helplessness and anxious preoccupation, and a higher score for the fighting spirit of Mini-MAC; the depression score was significantly reduced in patients with both allelic variants.", "output": {"entities": {"gene": [{"text": "MAC", "start": 187, "end": 190}], "disease": [{"text": "anxiety", "start": 173, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population.", "output": {"entities": {"gene": [{"text": "TNFAIP3", "start": 20, "end": 27}], "disease": [{"text": "systemic lupus erythematosus", "start": 87, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFAIP3", "start": 20, "end": 27}, "tail": {"text": "systemic lupus erythematosus", "start": 87, "end": 115}}]}}, "schema": []}
{"input": "CGI in 5' upstream regions of 20 genes, TSPAN-2, AK5, LOC284999, HOXD11, FLJ25161, XT3, PCDH10, PCDHGB6, SIM1, LOC346978, COE2, TDH (FLJ25033), LOC346419, FLJ33790, GJB2, AMN, LOC201164, DLX4, DCC and FOXA2, were found to be methylated in at least one of 8 breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "SIM1", "start": 105, "end": 109}], "disease": [{"text": "breast cancer", "start": 257, "end": 270}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIM1", "start": 105, "end": 109}, "tail": {"text": "breast cancer", "start": 257, "end": 270}}]}}, "schema": []}
{"input": "An ESR1 mutation was identified in 2 sisters and 1 brother, originating from a consanguineous Algerian family, who did not enter puberty and presented with delayed bone maturation consistent with estrogen insensitivity.", "output": {"entities": {"gene": [{"text": "ESR1", "start": 3, "end": 7}], "disease": [{"text": "estrogen insensitivity", "start": 196, "end": 218}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ESR1", "start": 3, "end": 7}, "tail": {"text": "estrogen insensitivity", "start": 196, "end": 218}}]}}, "schema": []}
{"input": "As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.", "output": {"entities": {"gene": [{"text": "CAMK2A", "start": 142, "end": 148}], "disease": [{"text": "major depression", "start": 75, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAMK2A", "start": 142, "end": 148}, "tail": {"text": "major depression", "start": 75, "end": 91}}]}}, "schema": []}
{"input": "Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.", "output": {"entities": {"gene": [{"text": "HOXA13", "start": 112, "end": 118}], "disease": [{"text": "hand-foot-genital syndrome", "start": 33, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXA13", "start": 112, "end": 118}, "tail": {"text": "hand-foot-genital syndrome", "start": 33, "end": 59}}]}}, "schema": []}
{"input": "The PAX5 gene is involved in medulloblastoma, non-Hodgkin' s lymphoma, transitional cell carcinoma of the bladder, neuroblastoma, breast cancer and SCC.", "output": {"entities": {"gene": [{"text": "PAX5 gene", "start": 4, "end": 13}], "disease": [{"text": "neuroblastoma", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Prominent ClC-2,-3, and-5 channel expression was also detected in acute patient biopsies from low-and high-grade malignant gliomas.", "output": {"entities": {"gene": [{"text": "ClC-2", "start": 10, "end": 15}], "disease": [{"text": "malignant gliomas", "start": 113, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ClC-2", "start": 10, "end": 15}, "tail": {"text": "malignant gliomas", "start": 113, "end": 130}}]}}, "schema": []}
{"input": "In this study, we analyzed a large-scale database to discriminate the survival impact of EGFR mutations against those of sex and smoking after gefitinib therapy.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 89, "end": 93}], "disease": [{"text": "smoking", "start": 129, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Variants of SORL1 previously associated with AD are also associated with MRI and neuropathological measures of neurodegenerative and cerebrovascular disease.", "output": {"entities": {"gene": [{"text": "MRI", "start": 73, "end": 76}], "disease": [{"text": "cerebrovascular disease", "start": 133, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The secondary PCR products of nine exons of the CYP11B1 gene were then subjected to single-strand conformation polymorphism (SSCP) analysis and DNA sequencing.", "output": {"entities": {"gene": [{"text": "CYP11B1 gene", "start": 48, "end": 60}], "disease": [{"text": "secondary", "start": 4, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "(2) There is no difference in the frequency of loss of heterozygosity at HSECAD among RER +, RER-and ulcerative colitis associated colorectal cancers.", "output": {"entities": {"gene": [{"text": "RER", "start": 86, "end": 89}], "disease": [{"text": "ulcerative colitis", "start": 101, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "APOBEC3G enhances lymphoma cell radioresistance by promoting cytidine deaminase-dependent DNA repair.", "output": {"entities": {"gene": [{"text": "cytidine deaminase", "start": 61, "end": 79}], "disease": [{"text": "lymphoma", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "A total of 120 plasma samples from individuals infected with HIV-1 strains belonging to group M (subtypes A--> H) and group O, as well as recombinant strains, were tested in parallel with the heat-denatured signal-amplified p24 assay and the RNA viral load.", "output": {"entities": {"gene": [{"text": "p24", "start": 224, "end": 227}], "disease": [{"text": "viral load", "start": 246, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "ii) Our results molecularly support a recent randomized double-blind placebo-controlled clinical trial suggesting that ALA may be a potential dietary alternative or adjunct to currently used drugs in the management of HER2-positive breast carcinomas.", "output": {"entities": {"gene": [{"text": "HER2", "start": 218, "end": 222}], "disease": [{"text": "blind", "start": 63, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The COMT Val158Met polymorphism has been associated with anxiety and affective disorders, but its effect on anxiety-related personality traits varies between studies.", "output": {"entities": {"gene": [{"text": "COMT", "start": 4, "end": 8}], "disease": [{"text": "personality traits", "start": 124, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.", "output": {"entities": {"gene": [{"text": "phenylalanine hydroxylase", "start": 67, "end": 92}], "disease": [{"text": "Phenylketonuria", "start": 0, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "phenylalanine hydroxylase", "start": 67, "end": 92}, "tail": {"text": "Phenylketonuria", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "RESULTS: The data showed PROM1 (p. S281R) and CRTC2 (p. R379C) mutations, in 5 and 2 cases of these 343 sporadic lung cancer patients, respectively.", "output": {"entities": {"gene": [{"text": "PROM1", "start": 25, "end": 30}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Human teratocarcinoma Ntera2/c 1. D1 (NT2) cells express very low levels of the prohormone convertase enzyme PC1, moderate levels of PC2 and significant levels of PC5.", "output": {"entities": {"gene": [{"text": "PC5", "start": 163, "end": 166}], "disease": [{"text": "teratocarcinoma", "start": 6, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "HOTAIR levels were significantly higher in LSCC than in corresponding adjacent non-neoplastic tissues, and patients with poor histological grade or advanced clinical stage had higher HOTAIR expression.", "output": {"entities": {"gene": [{"text": "HOTAIR", "start": 0, "end": 6}], "disease": [{"text": "non-neoplastic", "start": 79, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "GRP is an ubiquitous food protein that has high homology with cytokeratins and other self proteins [Epstein-Barr virus nuclear antigen-1 (EBNA-I), heterogeneous nuclear ribonucleoprotein, fibrillar collagen] which are common targets in autoimmune disorders.", "output": {"entities": {"gene": [{"text": "GRP", "start": 0, "end": 3}], "disease": [{"text": "autoimmune disorders", "start": 236, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "Intravenous delivery of mesenchymal stromal cell-derived exosomes (MEX) inhibited vascular remodeling and hypoxic pulmonary hypertension, whereas MEX-depleted media or fibroblast-derived exosomes had no effect.", "output": {"entities": {"gene": [{"text": "MEX", "start": 67, "end": 70}], "disease": [{"text": "pulmonary hypertension", "start": 114, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of MKL1 potentiated the induction of MMP9 transcription by hypoxia and TGF-β, whereas MKL1 silencing diminished MMP9 expression.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 86, "end": 91}], "disease": [{"text": "hypoxia", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to demonstrate the feasibility of brightfield break-apart in situ hybridization (ba-ISH) for anaplastic lymphoma kinase (ALK) and mucosa-associated lymphoid tissue translocation protein 1 (MALT1) genes as models.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 207, "end": 212}], "disease": [{"text": "translocation", "start": 182, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "We found that A (3) antagonists inhibit adenosine-induced HIF-1alpha and VEGF protein accumulation in the hypoxic cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 73, "end": 77}], "disease": [{"text": "hypoxic", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "To evaluate Siglec-1 protein (CD169) and mRNA levels in peripheral blood monocytes of patients with primary biliary cirrhosis (PBC) and investigate its role in PBC pathogenesis by looking for correlations between Siglec-1 expression and key PBC associated biochemical indices.", "output": {"entities": {"gene": [{"text": "Siglec-1", "start": 12, "end": 20}], "disease": [{"text": "primary biliary cirrhosis", "start": 100, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "ClC-5 KO mice were euthyroid (normal T4 and TSH serum levels) but developed a goiter with parallel iodine and Tg accumulation (i. e. normal Tg iodination level).", "output": {"entities": {"gene": [{"text": "ClC-5", "start": 0, "end": 5}], "disease": [{"text": "goiter", "start": 78, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ClC-5", "start": 0, "end": 5}, "tail": {"text": "goiter", "start": 78, "end": 84}}]}}, "schema": []}
{"input": "We present six new cases of sarcoma that had in common the same chromosome abnormality, i. e., a balanced translocation between chromosomes X and 18, t (X; 18) (p11. 2; q11. 2), and evaluate the 15 cases with this translocation in the literature.", "output": {"entities": {"gene": [{"text": "p11", "start": 161, "end": 164}], "disease": [{"text": "chromosome abnormality", "start": 64, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Several mammalian Notch receptors are oncogenic when constitutively active, including Notch1, a gene initially identified based on its involvement in a (7; 9) chromosomal translocation found in sporadic T-cell lymphoblastic leukemias and lymphomas (T-ALL).", "output": {"entities": {"gene": [{"text": "Notch1", "start": 86, "end": 92}], "disease": [{"text": "sporadic", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "T-cell responses to PGP proteinase 3 and human neutrophil elastase were observed in CD8 + and CD4 + T cells only in patients with myeloid leukemias.", "output": {"entities": {"gene": [{"text": "CD4", "start": 94, "end": 97}], "disease": [{"text": "myeloid leukemias", "start": 130, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Transient hypoglycemia, rebound hyperglycemia, elevations in serum cortisol, and C-reactive protein were observed.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 81, "end": 99}], "disease": [{"text": "hypoglycemia", "start": 10, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "FISH analyses with AML1 probes at 21q22 proved in all 3 patients splitting of the AML1 gene at a region spanning exons 5 and 6 and the translocation of its 5' segment to distal 16q.", "output": {"entities": {"gene": [{"text": "AML1", "start": 19, "end": 23}], "disease": [{"text": "translocation", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Defects in the DNA mismatch repair (MMR) proteins, result in a phenotype called microsatellite instability (MSI), occurring in up to 15% of sporadic colorectal cancers.", "output": {"entities": {"gene": [{"text": "MMR", "start": 36, "end": 39}], "disease": [{"text": "microsatellite instability", "start": 80, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the OPCML gene is considered to be a schizophrenia-susceptible gene in the Thai population.", "output": {"entities": {"gene": [{"text": "OPCML", "start": 15, "end": 20}], "disease": [{"text": "schizophrenia", "start": 48, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPCML", "start": 15, "end": 20}, "tail": {"text": "schizophrenia", "start": 48, "end": 61}}]}}, "schema": []}
{"input": "Although the bone exposure phenotype of ONJ was predominantly observed in WT ZOL mice, Tcrd (-/-) ZOL mice developed the pustule/fistula disease phenotype.", "output": {"entities": {"gene": [{"text": "Tcrd", "start": 87, "end": 91}], "disease": [{"text": "pustule", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "In addition to this translocation, a pericentric inversion within chromosome 10 and with a cryptic t (10; 11) were detected by SKY in the second case.", "output": {"entities": {"gene": [{"text": "SKY", "start": 127, "end": 130}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "As CSF1R is a crucial mediator of microglial proliferation and differentiation in the brain, our findings suggest an important role for microglial dysfunction in HDLS pathogenesis.", "output": {"entities": {"gene": [{"text": "CSF1R", "start": 3, "end": 8}], "disease": [{"text": "HDLS", "start": 162, "end": 166}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CSF1R", "start": 3, "end": 8}, "tail": {"text": "HDLS", "start": 162, "end": 166}}]}}, "schema": []}
{"input": "The I2020T Leucine-rich repeat kinase 2 transgenic mouse exhibits impaired locomotive ability accompanied by dopaminergic neuron abnormalities.", "output": {"entities": {"gene": [{"text": "Leucine-rich repeat kinase 2", "start": 11, "end": 39}], "disease": [{"text": "abnormalities", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Frem1 (eyes2) mice have eye defects, renal agenesis and develop retrosternal diaphragmatic hernias which are covered by a membranous sac.", "output": {"entities": {"gene": [{"text": "Frem1", "start": 0, "end": 5}], "disease": [{"text": "renal agenesis", "start": 37, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Frem1", "start": 0, "end": 5}, "tail": {"text": "renal agenesis", "start": 37, "end": 51}}]}}, "schema": []}
{"input": "More work is needed to elucidate the exact mechanisms of and the interrelationship between the actions of apoJ and to successfully achieve regression of atherosclerosis by regarding it as a therapeutic endpoint.", "output": {"entities": {"gene": [{"text": "apoJ", "start": 106, "end": 110}], "disease": [{"text": "regression", "start": 139, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In resected HCCs, PPARgamma expression was less compared with the histologically normal surrounding liver.", "output": {"entities": {"gene": [{"text": "PPARgamma", "start": 18, "end": 27}], "disease": [{"text": "HCC", "start": 12, "end": 15}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PPARgamma", "start": 18, "end": 27}, "tail": {"text": "HCC", "start": 12, "end": 15}}]}}, "schema": []}
{"input": "Moreover, we show that low-dose IR induces a rapid phosphorylation of several endothelial cell proteins, including the Vascular Endothelial Growth Factor (VEGF) Receptor-2 and induces VEGF production in hypoxia mimicking conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 155, "end": 159}], "disease": [{"text": "hypoxia", "start": 203, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "An ergostane type triterpenoid methylantcinate A (MAA) isolated from the fruiting bodies of Antrodia camphorata inhibited the growth of oral cancer cell lines OEC-M1 and OC-2 in a dose-dependent manner, without cytotoxic to normal oral gingival fibroblast cells.", "output": {"entities": {"gene": [{"text": "MAA", "start": 50, "end": 53}], "disease": [{"text": "oral cancer", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "They had higher ST3Gal IV expression than patients without pulmonary hypertension (0. 73 vs 0. 29, p = 0. 04) and a higher ST3Gal IV/ST6Gal I ratio than patients without pulmonary hypertension (1. 03 vs 0. 27, p = 0. 03) and controls (1. 03 vs 0. 28, p = 0. 02).", "output": {"entities": {"gene": [{"text": "ST6Gal I", "start": 133, "end": 141}], "disease": [{"text": "pulmonary hypertension", "start": 59, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We assessed its effect in two rat models: streptozotocin (STZ)-induced diabetes, a model of early diabetic neuropathy characterized by demyelination, and acrylamide experimental neuropathy, a model of diffuse axonal neuropathy which, like late-onset human diabetic neuropathy, results in a diffuse sensorimotor neuropathy with dysautonomy.", "output": {"entities": {"gene": [{"text": "STZ", "start": 58, "end": 61}], "disease": [{"text": "sensorimotor neuropathy", "start": 298, "end": 321}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that IFN-alpha gene therapy is a promising strategy to treat HCC patients who have concomitant liver cirrhosis.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 27, "end": 36}], "disease": [{"text": "HCC", "start": 83, "end": 86}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IFN-alpha", "start": 27, "end": 36}, "tail": {"text": "HCC", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "Pioglitazone inhibits growth of carcinoid cells and promotes TRAIL-induced apoptosis by induction of p21waf1/cip1.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 61, "end": 66}], "disease": [{"text": "carcinoid", "start": 32, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Hyalinizing spindle cell tumor with giant rosettes arising in the lung: report of a case with FUS-CREB3L2 fusion transcripts.", "output": {"entities": {"gene": [{"text": "FUS", "start": 94, "end": 97}], "disease": [{"text": "giant", "start": 36, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.", "output": {"entities": {"gene": [{"text": "cytochrome c oxidase subunit I", "start": 128, "end": 158}], "disease": [{"text": "Leber hereditary optic neuropathy", "start": 43, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cytochrome c oxidase subunit I", "start": 128, "end": 158}, "tail": {"text": "Leber hereditary optic neuropathy", "start": 43, "end": 76}}]}}, "schema": []}
{"input": "These findings suggest that cyclinE1/CDK2 is an important therapeutic target in HGSC, but that resistance to CDK2 inhibitors may emerge due to upregulation of CDK2 target protein and through preexisting cellular polyploidy.", "output": {"entities": {"gene": [{"text": "CDK2", "start": 37, "end": 41}], "disease": [{"text": "polyploidy", "start": 212, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, adenocarcinomas with EGFR mutation had a distinctive clinico-pathological feature unrelated to smoking.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 36, "end": 40}], "disease": [{"text": "smoking", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We propose that a low innate β-cell mass in the face of subsequent insulin resistance may expose β-cells to a burden of insulin and IAPP biosynthetic demand that exceeds the cellular capacity for protein folding and trafficking.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 132, "end": 136}], "disease": [{"text": "insulin resistance", "start": 67, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "OSM is expressed in most human brain tumors, but the effects on tumor cells are unclear.", "output": {"entities": {"gene": [{"text": "OSM", "start": 0, "end": 3}], "disease": [{"text": "brain tumors", "start": 31, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to study the susceptibility of human leukemia cell lines to SP-B.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 86, "end": 90}], "disease": [{"text": "leukemia", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Instead, KML001 specifically binds to telomeric sequences at a ratio of one molecule per three TTAGGG repeats leading to translocation of the telomerase catalytic subunit into the cytoplasm.", "output": {"entities": {"gene": [{"text": "telomerase catalytic subunit", "start": 142, "end": 170}], "disease": [{"text": "translocation", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "To compare the cytokine expression profile of three CD8 +, three CD4 +, and three gammadelta + T cell clones all derived from the synovial fluids of three patients with reactive arthritis (ReA).", "output": {"entities": {"gene": [{"text": "CD8", "start": 52, "end": 55}], "disease": [{"text": "reactive arthritis", "start": 169, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined mismatch repair (MMR) protein expression (MLH1, MSH2, MSH6, and PMS2) in 60 endocervical adenocarcinomas, including variants (minimal deviation adenocarcinoma, mesonephric adenocarcinoma, adenosquamous carcinoma, clear cell carcinoma) and a series of well-characterized lower-uterine segment carcinomas of known endocervical or endometrial origin (n = 41).", "output": {"entities": {"gene": [{"text": "MLH1", "start": 69, "end": 73}], "disease": [{"text": "clear cell carcinoma", "start": 240, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "AT1R stimulation in wild-type animals led to activation of HSCs and fibrosis in vivo through phosphorylation of JAK2 and subsequent RhoA/Rho-kinase activation.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 112, "end": 116}], "disease": [{"text": "fibrosis", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "These findings consist of experiments using methods that interfere with the function of DNA, using as constructs genes that have been implicated in dyslexia, which cause developmental problems of neuronal migration in rats, secondary brain changes in response to the migration problems, and abnormal processing of sounds.", "output": {"entities": {"gene": [{"text": "neuronal migration", "start": 196, "end": 214}], "disease": [{"text": "secondary", "start": 224, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Painful hypersensitivity to norepinephrine (NE) has been reported in various chronic pain conditions that exhibit sympathetically-maintained pain (SMP), particularly CRPS-I and II.", "output": {"entities": {"gene": [{"text": "SMP", "start": 147, "end": 150}], "disease": [{"text": "chronic pain", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The TNFR2 gene may be involved in weight-control mechanisms.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 4, "end": 9}], "disease": [{"text": "weight", "start": 34, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The HepG2 culture media containing elicited AFP was assessed for its ability to inhibit proliferation of T47D cells when applied to these human BC cells in culture, and to inhibit the estrogen-induced phosphorylation of the estrogen receptor in T47D cells.", "output": {"entities": {"gene": [{"text": "AFP", "start": 44, "end": 47}], "disease": [{"text": "BC", "start": 144, "end": 146}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AFP", "start": 44, "end": 47}, "tail": {"text": "BC", "start": 144, "end": 146}}]}}, "schema": []}
{"input": "In Chuvash polycythemia, homozygous germline von Hippel-Lindau (VHL) 598C-> T leads to up-regulation during normoxia of hypoxia inducible factor-1a and several hypoxia-controlled genes including erythropoietin and VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 214, "end": 218}], "disease": [{"text": "hypoxia", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "β-arr1-β-catenin interaction controls β-catenin target gene expressions, such as ET-1, Axin 2, Matrix metalloproteinase 2, and Cyclin D1, by promoting histone deacetylase 1 (HDAC1) dissociation and the recruitment of p300 acetyltransferase on these promoter genes, resulting in enhanced H3 and H4 histone acetylation, and gene transcription, required for cell migration, invasion and epithelial-to-mesenchymal transition.", "output": {"entities": {"gene": [{"text": "Matrix metalloproteinase 2", "start": 95, "end": 121}], "disease": [{"text": "dissociation", "start": 181, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "As a direct consequence, Kindlin-3 deficiency results in severe bleeding and resistance to arterial thrombosis.", "output": {"entities": {"gene": [{"text": "Kindlin-3", "start": 25, "end": 34}], "disease": [{"text": "bleeding", "start": 64, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Kindlin-3", "start": 25, "end": 34}, "tail": {"text": "bleeding", "start": 64, "end": 72}}]}}, "schema": []}
{"input": "A total of 21 women undergoing PGD for DM1 were compared with 21 age-and body mass index-matched women undergoing PGD for other diseases.", "output": {"entities": {"gene": [{"text": "PGD", "start": 31, "end": 34}], "disease": [{"text": "body mass index", "start": 73, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Mutation of SLC9A1, encoding the major Na & #8314;/H & #8314; exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.", "output": {"entities": {"gene": [{"text": "SLC9A1", "start": 12, "end": 18}], "disease": [{"text": "Lichtenstein-Knorr syndrome", "start": 96, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC9A1", "start": 12, "end": 18}, "tail": {"text": "Lichtenstein-Knorr syndrome", "start": 96, "end": 123}}]}}, "schema": []}
{"input": "Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.", "output": {"entities": {"gene": [{"text": "HEATR2", "start": 46, "end": 52}], "disease": [{"text": "primary ciliary dyskinesia", "start": 76, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HEATR2", "start": 46, "end": 52}, "tail": {"text": "primary ciliary dyskinesia", "start": 76, "end": 102}}]}}, "schema": []}
{"input": "Although all CDG-Ip patients carry different mutations in the ALG11 gene, they share a variety of clinical syndromes like an unremarkable prenatal period followed by developmental delay, psychomotor, and mental retardation, strabismus convergens and seizures occurring in the first year of life.", "output": {"entities": {"gene": [{"text": "ALG11 gene", "start": 62, "end": 72}], "disease": [{"text": "developmental delay", "start": 166, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In patients with stable coronary artery disease the CRP 1444TT and CD14 260TT variants are associated with larger coronary plaque volume independently of concomitant cardiovascular risk factors.", "output": {"entities": {"gene": [{"text": "CD14", "start": 67, "end": 71}], "disease": [{"text": "plaque", "start": 123, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "However, in exploratory analyses that did not adjust for multiple comparisons, sustained male (but not female) quitters with the DRD2 A1 (-) allele and/or the DAT 9R (+) allele showed an accelerated decline in FEV (1) similar to that of continuing smokers over 5 years after quitting smoking.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 129, "end": 133}], "disease": [{"text": "smoking", "start": 284, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "We studied the expression of CD56, WT1, estrogen receptor-beta (ER-beta), progesterone receptor (PR), smooth muscle actin, S-100, CD34, and muscle specific actin in 16 normal ovaries, 17 ovarian fibromas, 11 ovarian cellular fibromas, 10 ovarian fibrothecomas, and 11 ovarian leiomyomas.", "output": {"entities": {"gene": [{"text": "ER-beta", "start": 64, "end": 71}], "disease": [{"text": "fibromas", "start": 195, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Peripheral blood mononuclear cells, tumor-draining lymph node cells, or tumor-infiltrating lymphocytes were stimulated using mono-nuclear cells from humans with adenocarcinomas of breast or ovary, respectively, using (a) a native MUC1 mucin tandem repeat peptide of 20 amino acids (MUC1-mtr1) plus recombinant human interleukin-2 (IL-2), (b) the mutated (T3N) MUC1-mtr1 plus IL-2, or (c) immobilized anti-CD3 plus IL-2, or (d) IL-2 alone.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 230, "end": 234}], "disease": [{"text": "mono", "start": 17, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "In colon cancer, SOCS-1, IGF-2, RUNX3, NEUROG1, and CACNA1G are commonly inactivated.", "output": {"entities": {"gene": [{"text": "CACNA1G", "start": 52, "end": 59}], "disease": [{"text": "colon cancer", "start": 3, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Beyond its classical role as apoptosis inhibitor, bcl-2 protein promotes tumor angiogenesis and the removal of N-terminal bcl-2 homology (BH4) domain abrogates bcl-2-induced hypoxia-inducible factor 1 (HIF-1)-mediated vascular endothelial growth factor (VEGF) expression in hypoxic cancer cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 254, "end": 258}], "disease": [{"text": "hypoxic", "start": 274, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "The Kaplan-Meier survival curves revealed that decreasing GPR37 expression was associated with poor prognosis in HCC patients, while in vitro, following the release from serum starvation of HuH7 HCC cell, the expression of GPR37 was downregulated.", "output": {"entities": {"gene": [{"text": "HuH7", "start": 190, "end": 194}], "disease": [{"text": "starvation", "start": 176, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Here we examined whether PKD2 expression and activity could also play a role in the release of secretory granules from the trans Golgi network (TGN) in neuroendocrine tumour cells and hence be a target to block autonomous secretion by these tumours.", "output": {"entities": {"gene": [{"text": "TGN", "start": 144, "end": 147}], "disease": [{"text": "neuroendocrine tumour", "start": 152, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, coexpression of ligase activity-deficient COP1 mutant abrogated Trib1-induced leukemogenesis.", "output": {"entities": {"gene": [{"text": "COP1", "start": 57, "end": 61}], "disease": [{"text": "leukemogenesis", "start": 93, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "These resistant U251 transfectants were susceptible to FADD adenovirus (Adeno-FADD)-induced apoptosis, indicating that a cascade of death signals was blocked at the steps between Fas ligand and FADD.", "output": {"entities": {"gene": [{"text": "FADD", "start": 55, "end": 59}], "disease": [{"text": "adenovirus", "start": 60, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In the present study, inhibition of Rac2 by genetic deletion or a small-molecule inhibitor and down-regulation of mitochondrial ROS by disruption of MRC-cIII, expression of mitochondria-targeted catalase, or addition of ROS-scavenging mitochondria-targeted peptide aptamer reduced genomic instability.", "output": {"entities": {"gene": [{"text": "Rac2", "start": 36, "end": 40}], "disease": [{"text": "genomic instability", "start": 281, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "A total of 22 patients with endometrial adenocarcinoma and 9 with endometrial hyperplasia (mean age, 56. 0 +/-15. 3 y) underwent (18) F-FES PET for estrogen receptor imaging and (18) F-FDG PET.", "output": {"entities": {"gene": [{"text": "FES", "start": 136, "end": 139}], "disease": [{"text": "endometrial hyperplasia", "start": 66, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "This suggests the possibility that the presence of VEGF mRNA might be used as a marker for relevant levels of hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 51, "end": 55}], "disease": [{"text": "hypoxia", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Biological determinants of immune reconstitution in HIV-infected patients receiving antiretroviral therapy: the role of interleukin 7 and interleukin 7 receptor α and microbial translocation.", "output": {"entities": {"gene": [{"text": "interleukin 7", "start": 120, "end": 133}], "disease": [{"text": "translocation", "start": 177, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Of the patients not having an identified MECP2 mutation, 8 out of 11 had clinical criteria consistent with variant Rett syndrome and one of these had a balanced translocation involving chromosomes 2p25 and 6p11-12.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 41, "end": 46}], "disease": [{"text": "translocation", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "B19 genome DNAs from human fetal organs and fluids and sera from leukemia patients were amplified by the polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "B19", "start": 0, "end": 3}], "disease": [{"text": "leukemia", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The effect of GSTM1, GSTT1, GSTP1 and GSTA1 gene polymorphisms on predicting overall and specific cardiovascular outcomes (myocardial infarction, MI or stroke) was analyzed using Cox regression model, and differences in survival were determined by Kaplan-Meier.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 21, "end": 26}], "disease": [{"text": "regression", "start": 183, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the purified rAc-AEP was recognized by IgG in serum samples from BALB/c or ICR mice with A. cantonensis infection and patients with eosinophilic meningitis.", "output": {"entities": {"gene": [{"text": "AEP", "start": 27, "end": 30}], "disease": [{"text": "eosinophilic meningitis", "start": 142, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We performed this study to test the hypothesis that variation in the lamin a/c gene (LMNA) contributes to milder phenotypes of insulin resistance, hyperandrogenism, and/or metabolic syndrome associated with polycystic ovary syndrome (PCOS).", "output": {"entities": {"gene": [{"text": "LMNA", "start": 85, "end": 89}], "disease": [{"text": "hyperandrogenism", "start": 147, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The four novel mutations were: the missense mutations R88P and R88H, associated with severe phenotypes, concerning a position found to be a mutational \" hot-spot \" for the IDS gene due to a mutation-prone CpG dinucleotide; mutations T1181 and P266H, both in mild patients.", "output": {"entities": {"gene": [{"text": "IDS gene", "start": 172, "end": 180}], "disease": [{"text": "mild", "start": 258, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Here, we compared the location of centromeric breaks associated with whole arm translocations in seven adenocarcinoma cell lines and nine squamous cell carcinoma cell lines using SKY, microarray-based comparative genomic hybridization (array CGH) and fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "SKY", "start": 179, "end": 182}], "disease": [{"text": "squamous cell carcinoma", "start": 138, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results suggest that concomitant inheritance of rare variants in FANCA, FANCP/SLX4 and GEN1 on the specific genetic background of this familial case, could lead to increased genomic instability, hematopoietic dysfunction, and higher risk of childhood leukemia.", "output": {"entities": {"gene": [{"text": "SLX4", "start": 100, "end": 104}], "disease": [{"text": "genomic instability", "start": 196, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "In addition, TSK/+ mice lacking the IL-4alpha receptor show impaired transcription of the TGF-beta1 gene and did not display fibrosis.", "output": {"entities": {"gene": [{"text": "TSK", "start": 13, "end": 16}], "disease": [{"text": "fibrosis", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the present study suggests that the inhibition of pilocarpine-induced seizures may be mediated by stimulation of 5-HT1A and by blockade of 5-HT1B receptors, located probably on the cholinergic terminals.", "output": {"entities": {"gene": [{"text": "5-HT1A", "start": 128, "end": 134}], "disease": [{"text": "seizures", "start": 85, "end": 93}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "5-HT1A", "start": 128, "end": 134}, "tail": {"text": "seizures", "start": 85, "end": 93}}]}}, "schema": []}
{"input": "Interphase nuclei containing a translocation that disrupts either SSX1, SSX2, or SSX4 locus will display two single-color signals that have \" broken apart \" from each other.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 72, "end": 76}], "disease": [{"text": "translocation", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our studies demonstrate that hyperglycemia induces activation of JAK2 and the STATs in vivo via an ANG II-dependent mechanism and that these proteins may be involved in the early kidney damage associated with diabetes.", "output": {"entities": {"gene": [{"text": "ANG", "start": 114, "end": 117}], "disease": [{"text": "kidney damage", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Prospectively collected cremaster muscle and/or hernia sac tissues from boys with congenital (79) or acquired (66) nonsyndromic cryptorchidism and hernia/hydrocele (controls, 84) were analyzed for hormone receptor (RXFP2, AR, ESR1, ESR2) and myosin heavy chain specific (MYH1, MYH2, MYH7) mRNA expression using real-time reverse transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "ESR2", "start": 232, "end": 236}], "disease": [{"text": "hydrocele", "start": 154, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In this study, 58 coding exons from 20 CORD genes, including 35 exons with previously identified mutations in 17 genes and all 23 coding exons for the other 3 genes (GUCY2D, PRPH2 and KCNV2), were analyzed by cycle sequencing on 130 unrelated probands with CORD.", "output": {"entities": {"gene": [{"text": "PRPH2", "start": 174, "end": 179}], "disease": [{"text": "CORD", "start": 39, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRPH2", "start": 174, "end": 179}, "tail": {"text": "CORD", "start": 39, "end": 43}}]}}, "schema": []}
{"input": "In conclusion, these data suggest that RPN2 is involved in the regulation of lethal cancer phenotypes and represents a promising new target for RNAi-based medicine against NSCLC.", "output": {"entities": {"gene": [{"text": "RPN2", "start": 39, "end": 43}], "disease": [{"text": "cancer", "start": 84, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Indeed, recent evidence suggests that targeting PAR-2 helps reduce joint swelling observed in animal models of arthritis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 48, "end": 51}], "disease": [{"text": "joint swelling", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We found that ganglion cell numbers were remarkably reduced while miR-369-3p was significantly upregulated in HSCR tissues compared to that in adjacent normal tissues (P & lt; 0. 01).", "output": {"entities": {"gene": [{"text": "miR-369", "start": 66, "end": 73}], "disease": [{"text": "HSCR", "start": 110, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-369", "start": 66, "end": 73}, "tail": {"text": "HSCR", "start": 110, "end": 114}}]}}, "schema": []}
{"input": "A huge number of studies have ratified the neurotoxic effects of chlorpyrifos (CPF) and suggested its association with neurodegenerative diseases, but data are still scarce.", "output": {"entities": {"gene": [{"text": "CPF", "start": 79, "end": 82}], "disease": [{"text": "neurodegenerative diseases", "start": 119, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Pretreatment of cells with resveratrol significantly reduced hypoxia-induced VEGF promoter activities and VEGF expression at both mRNA and protein levels.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 77, "end": 81}], "disease": [{"text": "hypoxia", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "14q32/IGH translocation partners were identified in eight cases (BCL2 in five cases, BCL11A, CCND3 and CDK6 in one case each).", "output": {"entities": {"gene": [{"text": "CCND3", "start": 93, "end": 98}], "disease": [{"text": "translocation", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "EGFR mutations are more common in non-smoking NSCLC patients.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The promoters for 640 genes were found to be bound by & #946;-catenin, many of which are known schizophrenia (SZ), autism spectrum disorder (ASD), and BD candidates, including CACNA1B, NRNG, SNAP29, FGFR1, PCDH9, and nine others identified in recently published GWASs and genome-wide searches for copy number variants (CNVs).", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 199, "end": 204}], "disease": [{"text": "BD", "start": 151, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR1", "start": 199, "end": 204}, "tail": {"text": "BD", "start": 151, "end": 153}}]}}, "schema": []}
{"input": "Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.", "output": {"entities": {"gene": [{"text": "SDR9C7", "start": 65, "end": 71}], "disease": [{"text": "congenital ichthyosis", "start": 103, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDR9C7", "start": 65, "end": 71}, "tail": {"text": "congenital ichthyosis", "start": 103, "end": 124}}]}}, "schema": []}
{"input": "No correlation was found between airway hyperresponsiveness (AHR), either with methacholine or AMP, and inflammation in asthmatic patients, regardless of smoking.", "output": {"entities": {"gene": [{"text": "AHR", "start": 61, "end": 64}], "disease": [{"text": "smoking", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Deficient DNA mismatch repair (MMR) results in a strong mutator phenotype known as microsatellite instability (MSI), which is a hallmark of Lynch syndrome-associated cancers.", "output": {"entities": {"gene": [{"text": "MMR", "start": 31, "end": 34}], "disease": [{"text": "microsatellite instability", "start": 83, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Gene expression analysis revealed that CDK6 mRNA expression is higher than normal cerebellum in fifteen out of sixteen medulloblastoma patient samples.", "output": {"entities": {"gene": [{"text": "CDK6", "start": 39, "end": 43}], "disease": [{"text": "medulloblastoma", "start": 119, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDK6", "start": 39, "end": 43}, "tail": {"text": "medulloblastoma", "start": 119, "end": 134}}]}}, "schema": []}
{"input": "To our knowledge, this is just the second patient with late onset EA2 linked to a CACNA1A mutation and the first to carry a loss-of-function missense mutation.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 82, "end": 89}], "disease": [{"text": "EA2", "start": 66, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 82, "end": 89}, "tail": {"text": "EA2", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "The effect of hypoxia, inflammation, and ER stress on the expression of TWEAK and Fn14 was examined in human adipocyte and macrophage cell lines.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 72, "end": 77}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Annexin-V translocation and caspase-3 activation indicated an apoptotic component in ouabain cytoxicity, which was accompanied with reduced Bcl-2 expression and mitochondrial membrane potential.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 140, "end": 145}], "disease": [{"text": "translocation", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, we found that miR-940 promoted GC cell migration, invasion, and metastasis in vivo by directly and functionally repressing the expression of Zinc Finger Transcription Factor 24 (ZNF24).", "output": {"entities": {"gene": [{"text": "ZNF24", "start": 195, "end": 200}], "disease": [{"text": "metastasis", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "A distinctive pattern of enzyme change was observed, in which the' de novo' pathway enzyme phosphoribosyl pyrophosphate amidotransferase increased sharply between days 10 and 14 of pregnancy, and then remained sensibly constant until the height of lactation, whereas the enzymes of the salvage pathway increased later in pregnancy and continued to rise during lactation.", "output": {"entities": {"gene": [{"text": "phosphoribosyl pyrophosphate amidotransferase", "start": 91, "end": 136}], "disease": [{"text": "height", "start": 238, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "We analysed 22 formalin-fixed, paraffin-embedded HCC, obtained at surgery, together with the corresponding non-neoplastic liver tissues (19 cases).", "output": {"entities": {"gene": [{"text": "HCC", "start": 49, "end": 52}], "disease": [{"text": "non-neoplastic", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The EGFR mutation was significantly associated with adenocarcinoma (p = 0. 006) and light-smoking (p < 0. 0001), but not gender.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 4, "end": 8}], "disease": [{"text": "smoking", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Silent brain infarction (SBI), a unique cerebrovascular disorder, is frequently detected on magnetic resonance imaging (MRI) of apparently healthy elderly persons, and it is known to increase the risk of stroke and other related diseases.", "output": {"entities": {"gene": [{"text": "MRI", "start": 120, "end": 123}], "disease": [{"text": "cerebrovascular disorder", "start": 40, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "EAS is characterized by a lymphocytic infiltration that consists of both CD4 + (helper/inducer T-cell subset) and CD8 + (cytotoxic/suppressor T-cell subset) T cells and results in the immune-mediated destruction of the exocrine salivary glands.", "output": {"entities": {"gene": [{"text": "CD4", "start": 73, "end": 76}], "disease": [{"text": "lymphocytic infiltration", "start": 26, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "After 16 h incubation of NF3, other sets of genes were shown with differential expression in HUVEC, e. g., IL1RAPL2 and NR1H4 in anti-inflammation; miR28 in anti-tumorogenesis; GRIN1 and LCN1 in anti-oxidation; EPB41 in intracellular signal transduction; PRL and TFAP2A in cell proliferation; miR28, PRL and SCG2 in cell migration; PRL in tubular formation; and miR28, NR1H4 and PRL in angiogenesis.", "output": {"entities": {"gene": [{"text": "LCN1", "start": 187, "end": 191}], "disease": [{"text": "inflammation", "start": 134, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "However, it is not known whether Egr-1 promotes inflammation in other models of cholestasis.", "output": {"entities": {"gene": [{"text": "Egr-1", "start": 33, "end": 38}], "disease": [{"text": "inflammation", "start": 48, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Egr-1", "start": 33, "end": 38}, "tail": {"text": "inflammation", "start": 48, "end": 60}}]}}, "schema": []}
{"input": "Moreover, microsatellite repeats in miRNA genes, such as hsa-miR-1273c, may be novel MSI targets for CRC, and mutations in noncoding regulatory regions of MRE11, BAX (Bax & #916; 2), and HSP110 (HSP110 & #916; E9) may affect the efficiency of chemotherapy.", "output": {"entities": {"gene": [{"text": "hsa-miR-1273c", "start": 57, "end": 70}], "disease": [{"text": "CRC", "start": 101, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hsa-miR-1273c", "start": 57, "end": 70}, "tail": {"text": "CRC", "start": 101, "end": 104}}]}}, "schema": []}
{"input": "While accounting for family clusters and blood pressure at baseline and with adjustments applied for sex, age, body mass index, smoking and drinking, total cholesterol, and antihypertensive drug treatment, all associations of systolic and diastolic blood pressure changes with nine single nucleotide polymorphisms (SNPs) in PEAR1 were all non-significant (p ≥ 0. 059).", "output": {"entities": {"gene": [{"text": "PEAR1", "start": 324, "end": 329}], "disease": [{"text": "diastolic blood pressure", "start": 239, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Recent research suggests that it is the channel function of ANO1 that is involved in the tumorigenesis.", "output": {"entities": {"gene": [{"text": "ANO1", "start": 60, "end": 64}], "disease": [{"text": "tumorigenesis", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Transcriptomic analysis revealed SHH-driven tumorigenesis in a subset of MYCN-MBs indicating a biological dichotomy of MYCN-MB.", "output": {"entities": {"gene": [{"text": "SHH", "start": 33, "end": 36}], "disease": [{"text": "tumorigenesis", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Whole-exome sequencing led to the identification of APOPT1 mutations in two Italian sisters and in a third Turkish individual presenting severe COX deficiency.", "output": {"entities": {"gene": [{"text": "APOPT1", "start": 52, "end": 58}], "disease": [{"text": "COX deficiency", "start": 144, "end": 158}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APOPT1", "start": 52, "end": 58}, "tail": {"text": "COX deficiency", "start": 144, "end": 158}}]}}, "schema": []}
{"input": "FISH analysis detected no copy number gains or translocation of the Bcl-2 gene.", "output": {"entities": {"gene": [{"text": "Bcl-2 gene", "start": 68, "end": 78}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "By contrast, early-onset vincristine-induced peripheral neuropathy was characterised by upregulation of genes involved in cell cycle and proliferation, including AURKA (3 & #183; 31 times; p = 1 & #183; 04 & #215; 10 (-2)) and MKI67 (3 & #183; 66 times; p = 1 & #183; 82 & #215; 10 (-3)), and the presence of SNPs in genes involved in these processes-eg, GLI1 (rs2228224 [0 & #183; 13, 0 & #183; 02-0 & #183; 97, p = 1 & #183; 18 & #215; 10 (-2)] and rs2242578 [0 & #183; 14, 0 & #183; 02-1 & #183; 12, p = 3 & #183; 00 & #215; 10 (-2)]).", "output": {"entities": {"gene": [{"text": "MKI67", "start": 227, "end": 232}], "disease": [{"text": "peripheral neuropathy", "start": 45, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MKI67", "start": 227, "end": 232}, "tail": {"text": "peripheral neuropathy", "start": 45, "end": 66}}]}}, "schema": []}
{"input": "Here, STAT3 expression, activity and cellular functions were examined in two main histotypes of esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 6, "end": 11}], "disease": [{"text": "esophageal", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Now we report a spectrum of ATP2A2 mutations in 19 families and six sporadic cases with DD and investigate genotype-phenotype correlations.", "output": {"entities": {"gene": [{"text": "ATP2A2", "start": 28, "end": 34}], "disease": [{"text": "DD", "start": 88, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2A2", "start": 28, "end": 34}, "tail": {"text": "DD", "start": 88, "end": 90}}]}}, "schema": []}
{"input": "Cell cycle progression is dependent on the proteasomal degradation of p27, a cyclin-dependent kinase inhibitor and gastric tumor suppressor, following ubiquitination mediated by Skp2.", "output": {"entities": {"gene": [{"text": "cyclin-dependent kinase inhibitor", "start": 77, "end": 110}], "disease": [{"text": "gastric tumor", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Although IFN-gamma regulatory role needs further investigation, we provide evidence suggesting that this cytokine, within the tumour microenvironment, could promote HLA-E translocation to the surface of tumour epithelial cells.", "output": {"entities": {"gene": [{"text": "HLA-E", "start": 165, "end": 170}], "disease": [{"text": "translocation", "start": 171, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "ELA2 has also been investigated as a possible target of the leukemic fusion protein AML1-ETO resulting from the t (8; 21) chromosomal translocation.", "output": {"entities": {"gene": [{"text": "ELA2", "start": 0, "end": 4}], "disease": [{"text": "chromosomal translocation", "start": 122, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "During and after pilocarpine-induced status epilepticus, progressive changes of each of CCR7, CCR8, CCR9 and CCR10 proteins occurred in different patterns at various time points.", "output": {"entities": {"gene": [{"text": "CCR8", "start": 94, "end": 98}], "disease": [{"text": "status epilepticus", "start": 37, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCR8", "start": 94, "end": 98}, "tail": {"text": "status epilepticus", "start": 37, "end": 55}}]}}, "schema": []}
{"input": "In women, compared to the most common allele, the GpIIIa Pl allele was associated with increased mean arterial pressure (MAP) (P < 0. 05) and pulse pressure (PP) (P < 0. 001), and the LPL 447Ter allele was associated with decreased systolic blood pressure (SBP) and PP levels (0. 001 < or = P < or = 0. 05).", "output": {"entities": {"gene": [{"text": "LPL", "start": 184, "end": 187}], "disease": [{"text": "systolic blood pressure", "start": 232, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "The results revealed a significant association of rs8049282 SNP on E-cadherin gene with endometriosis-related infertility.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 67, "end": 77}], "disease": [{"text": "infertility", "start": 110, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Increased levels of MPO, nitrite/nitrate, and MDA in the hyperoxia-exposed rats were significantly reduced by MT (P < 0. 05).", "output": {"entities": {"gene": [{"text": "MPO", "start": 20, "end": 23}], "disease": [{"text": "hyperoxia", "start": 57, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "p63 is a prosurvival factor in the adult mammary gland during post-lactational involution, affecting PI-MECs and ErbB2 tumorigenesis.", "output": {"entities": {"gene": [{"text": "p63", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Breast cancer resistance protein (BCRP/ABCG2) is currently the only ABC transporter that exports mono-and polyglutamates of folates and methotrexate (MTX).", "output": {"entities": {"gene": [{"text": "MTX", "start": 150, "end": 153}], "disease": [{"text": "mono", "start": 97, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that noscapine treatment of human glioma U87MG and T98G cell lines exposed to the hypoxic mimetic agent, CoCl2, inhibits hypoxia-mediated HIF-1alpha expression and transcriptional activity as measured by decreased secretion of VEGF, a HIF-1 target gene.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 242, "end": 246}], "disease": [{"text": "hypoxia", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 17, "end": 21}], "disease": [{"text": "adult vitelliform macular dystrophy", "start": 111, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 17, "end": 21}, "tail": {"text": "adult vitelliform macular dystrophy", "start": 111, "end": 146}}]}}, "schema": []}
{"input": "By flow cytometry we found that a substantial portion of both normal human astrocytes, and U87 and U373 glioma cells express TRPV1 protein.", "output": {"entities": {"gene": [{"text": "U87", "start": 91, "end": 94}], "disease": [{"text": "glioma", "start": 104, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "None of the ALS or IGFBP3 SNPs were statistically significantly associated with IGF-I levels or mammographic density.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 80, "end": 85}], "disease": [{"text": "mammographic density", "start": 96, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "TEL-AML1 (ETV6-RUNX1) is the most common translocation in the childhood leukemias, and is a prenatal mutation in most children.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 15, "end": 20}], "disease": [{"text": "translocation", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "BDNF overexpression in YAC128 mice prevented loss and atrophy of striatal neurons and motor dysfunction, normalized expression of the striatal dopamine receptor D2 and enkephalin, and improved procedural learning.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 0, "end": 4}], "disease": [{"text": "motor dysfunction", "start": 86, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to clarify the role of single nucleotide polymorphisms (SNPs) in FTO in metabolic disorders such as hypertension, obesity, diabetes, dyslipidemia, insulin resistance and metabolic syndrome in the Japanese general population using data from a cohort study in Hokkaido, namely the Tanno-Sobetsu study.", "output": {"entities": {"gene": [{"text": "FTO", "start": 91, "end": 94}], "disease": [{"text": "insulin resistance", "start": 173, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Significant associations with VDR polymorphisms have been reported in cancer of the breast (Fok1, Bsm1, Taq1, Apa1, poly (A)), prostate (Fok1, Bsm1, Taq1, poly (A)), skin (Fok1, Bsm1, A-1210), colorectum (Fok1, Bsm1), ovary (Fok1, Apa1) and bladder (Fok1), and in renal cell carcinoma (Taq1, Apa1).", "output": {"entities": {"gene": [{"text": "Apa1", "start": 110, "end": 114}], "disease": [{"text": "renal cell carcinoma", "start": 264, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "Thus, homozygous mutation of the nNOS gene increases vulnerability to alcohol-induced cerebellar dysfunction and neuronal loss. nNOS is the first gene identified whose mutation worsens alcohol-induced cerebellar behavioral deficits.", "output": {"entities": {"gene": [{"text": "nNOS", "start": 33, "end": 37}], "disease": [{"text": "cerebellar dysfunction", "start": 86, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nNOS", "start": 33, "end": 37}, "tail": {"text": "cerebellar dysfunction", "start": 86, "end": 108}}]}}, "schema": []}
{"input": "Serum BDNF concentrations were decreased in PSD patients at 3-6 months after stroke (p < 0. 05).", "output": {"entities": {"gene": [{"text": "PSD", "start": 44, "end": 47}], "disease": [{"text": "stroke", "start": 77, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "This study implies that CXCR4 molecule is a potential factor controlling the proliferation and metastasis of Mc3 cells.", "output": {"entities": {"gene": [{"text": "Mc3", "start": 109, "end": 112}], "disease": [{"text": "metastasis", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Stable IGFBP7-overexpressing clones were established in the background of AEG-1-overexpressing human HCC cells and were analyzed for in vitro proliferation and senescence and in vivo tumorigenesis and angiogenesis.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 74, "end": 79}], "disease": [{"text": "tumorigenesis", "start": 183, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "f-and g-adiponectin both stimulate JNK activation in prostate cancer DU145, PC-3, and LNCaP-FGC cells, hepatocellular carcinoma HepG2 cells, and C2C12 myoblasts.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 76, "end": 80}], "disease": [{"text": "hepatocellular carcinoma", "start": 103, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Moyamoya disease (MMD) is a cerebrovascular disorder characterized by occlusive lesions of the circle of Willis.", "output": {"entities": {"gene": [{"text": "MMD", "start": 18, "end": 21}], "disease": [{"text": "cerebrovascular disorder", "start": 28, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "To explore whether and how abnormalities in mitochondrial energy metabolism are involved in DS pathogenesis, we investigated the catalytic properties, gene expression and protein levels of certain proteins involved in mitochondrial ATP synthesis, such as F1F0-ATPase, ANT (adenine nucleotide translocator) and AK (adenylate kinase), in DS-HSF (human skin fibroblasts with trisomic karyotype), comparing them with euploid fibroblasts.", "output": {"entities": {"gene": [{"text": "ANT", "start": 268, "end": 271}], "disease": [{"text": "abnormalities", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "rs7806429 was associated with mRNA expression of RARRES2 in visceral adipose tissue in women (p < 0. 05 after adjusting for age and body mass index).", "output": {"entities": {"gene": [{"text": "RARRES2", "start": 49, "end": 56}], "disease": [{"text": "body mass index", "start": 132, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Previously, we induced muscle-specific overexpression of Akt, a regulator of cellular metabolism and survival, in mdx mice at pre-necrotic (< 3. 5 weeks) ages and demonstrated upregulation of the utrophin-glycoprotein complex and protection against contractile-induced stress.", "output": {"entities": {"gene": [{"text": "utrophin", "start": 196, "end": 204}], "disease": [{"text": "necrotic", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we report that exposure to a chronic oxidative stress in the form of a high-fat diet greatly accelerates the development of obesity in neil1 (-/-) mice.", "output": {"entities": {"gene": [{"text": "neil1", "start": 157, "end": 162}], "disease": [{"text": "obesity", "start": 146, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neil1", "start": 157, "end": 162}, "tail": {"text": "obesity", "start": 146, "end": 153}}]}}, "schema": []}
{"input": "In this study, we searched for CHEK2 mutations in young, high-risk breast cancer patients in China and detected a missense variant Y390C (1169A & gt; G) in 12 of 150 patients (8. 0%) and 2 in 250 healthy controls (0. 8%, P = 0. 0002).", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 31, "end": 36}], "disease": [{"text": "breast cancer", "start": 67, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHEK2", "start": 31, "end": 36}, "tail": {"text": "breast cancer", "start": 67, "end": 80}}]}}, "schema": []}
{"input": "Cleavage of microtubule-associated protein-light chain 3 (LC3), an essential step in autophagosome formation, was detected in human malignant glioma cells exposed to 17alpha-AED.", "output": {"entities": {"gene": [{"text": "LC3", "start": 58, "end": 61}], "disease": [{"text": "malignant glioma", "start": 132, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We believe that the cardiac hypertrophy is ACTH-induced.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 43, "end": 47}], "disease": [{"text": "cardiac hypertrophy", "start": 20, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 43, "end": 47}, "tail": {"text": "cardiac hypertrophy", "start": 20, "end": 39}}]}}, "schema": []}
{"input": "To determine whether genetic variation in these genes plays a role in sporadic PD, we performed a genetic association study in a screening sample of 340 PD patients and 680 controls and a large replication sample of 669 PD patients and 669 controls using 54 single nucleotide polymorphisms in and around the Engrailed 1/2, PITX3, LMX1B and OTX2 genes.", "output": {"entities": {"gene": [{"text": "LMX1B", "start": 330, "end": 335}], "disease": [{"text": "sporadic", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Interaction between CD3EAP rs967591 and smoking duration was observed (P = 0. 003).", "output": {"entities": {"gene": [{"text": "CD3EAP", "start": 20, "end": 26}], "disease": [{"text": "smoking", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In order to investigate whether the HMGA1 detection might have a prognostic role also for inherited breast carcinomas we have analysed the expression of the HMGA1 proteins in 116 breast familial carcinomas associated with BRCA1 or BRCA2 or negative for mutations in both genes (BRCAX).", "output": {"entities": {"gene": [{"text": "BRCAX", "start": 278, "end": 283}], "disease": [{"text": "carcinomas", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Twenty-six metastasis candidate proteins, which were identified by on-line LC-ESI-MS/MS, such as S100 calcium-binding protein A4 (S100A4), annexin 1, etc., might have much application in diagnostic procedures and prognosis evaluation.", "output": {"entities": {"gene": [{"text": "ESI", "start": 78, "end": 81}], "disease": [{"text": "metastasis", "start": 11, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "We further found that down-regulation of MMP14 in gliomas by combinational treatment with CRAd-S-5/3 and Marimastat, a chemical inhibitor of metalloproteinases, augments suppression of pro-angiogenic factors, caused by the replication-competent adenovirus.", "output": {"entities": {"gene": [{"text": "MMP14", "start": 41, "end": 46}], "disease": [{"text": "adenovirus", "start": 245, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Among eight affected persons who had peripheral blood or bone marrow karyotype analysis, two carried the same chromosome abnormality, a pericentric inversion of chromosome 10, inv (10) (p11. 2q21. 2).", "output": {"entities": {"gene": [{"text": "p11", "start": 186, "end": 189}], "disease": [{"text": "chromosome abnormality", "start": 110, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "As part of the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP), we used an extreme phenotype study design to discover that variants in DCTN4, encoding a dynactin protein, are associated with time to first P. aeruginosa airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa in individuals with cystic fibrosis.", "output": {"entities": {"gene": [{"text": "DCTN4", "start": 168, "end": 173}], "disease": [{"text": "cystic fibrosis", "start": 347, "end": 362}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DCTN4", "start": 168, "end": 173}, "tail": {"text": "cystic fibrosis", "start": 347, "end": 362}}]}}, "schema": []}
{"input": "Because hypoxia and VEGF regulate matrix metalloproteinases (MMPs), their effects on PEDF proteolysis were explored.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 20, "end": 24}], "disease": [{"text": "hypoxia", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "A case of respiratory depression in a child with ultrarapid CYP2D6 metabolism after tramadol.", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 60, "end": 66}], "disease": [{"text": "respiratory depression", "start": 10, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, FISH analysis revealed 11 (84. 6%) of 13 cases with positive signals for BCL2 translocation.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 92, "end": 96}], "disease": [{"text": "translocation", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia (low oxygen supply) aids tumor metastasis in part by promoting EMT in cancer cells.", "output": {"entities": {"gene": [{"text": "EMT", "start": 71, "end": 74}], "disease": [{"text": "aids", "start": 28, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "There was no appreciable association between the G-protein beta3-subunit C825T polymorphism and erythrocyte Na +/Li + CT and other sodium transport systems in the hypertensive patient sample studied; however, those with the T allele were more obese and had more severe systolic hypertension.", "output": {"entities": {"gene": [{"text": "beta3", "start": 59, "end": 64}], "disease": [{"text": "systolic hypertension", "start": 269, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that transduction of SCCA2 promoter-controlled suicide genes by adenoviral vectors can confer transcriptionally targeted cytotoxicity in SCCA2-producing lung SCC cells, and represents a novel strategy for gene transfer specifically targeted to SCC in the lung.", "output": {"entities": {"gene": [{"text": "SCCA2", "start": 43, "end": 48}], "disease": [{"text": "suicide", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "According to immunohistochemical staining results of cytokeratin 5/6, EGFR, claudin 3, claudin 4, claudin 7, E-cadherin, STAT-1, androgen receptor, and GGT-1, metaplastic carcinoma and TNBC were sub-classified into six subtypes: basal-like type, molecular apocrine type, claudin-low type, immune-related type, mixed type, and null type.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 129, "end": 146}], "disease": [{"text": "metaplastic carcinoma", "start": 159, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.", "output": {"entities": {"gene": [{"text": "KRT25", "start": 48, "end": 53}], "disease": [{"text": "woolly hair", "start": 81, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT25", "start": 48, "end": 53}, "tail": {"text": "woolly hair", "start": 81, "end": 92}}]}}, "schema": []}
{"input": "Analysis of adhesion-related gene expression revealed a complex set of alterations in p63-depleted cells, with both increased and decreased adhesion molecules and adhesion substrates compared to parental cells expressing p63.", "output": {"entities": {"gene": [{"text": "p63", "start": 86, "end": 89}], "disease": [{"text": "adhesion", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "We report the phenotypic characteristics and natural history of 4 adults with severe, progressive OI characterized by numerous fractures, short stature with rhizomelic shortening, and deformity of the limbs and variable kyphoscoliosis, in whom we identified novel biallelic missense and frameshift mutations in BMP1.", "output": {"entities": {"gene": [{"text": "BMP1", "start": 311, "end": 315}], "disease": [{"text": "kyphoscoliosis", "start": 220, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 94, "end": 99}], "disease": [{"text": "Wilson disease", "start": 26, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 94, "end": 99}, "tail": {"text": "Wilson disease", "start": 26, "end": 40}}]}}, "schema": []}
{"input": "Impaired phosphorylation and insulin-stimulated translocation to the plasma membrane of protein kinase B/Akt in adipocytes from Type II diabetic subjects.", "output": {"entities": {"gene": [{"text": "protein kinase B", "start": 88, "end": 104}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Associations between AD and/or depression to gene polymorphisms APO E (epsilon4), choline acetyltransferase (ChAT) 4G to A, serotonin-transporter gene promoter-length, dopamine-D4-receptor, ciliary-neurotrophic-factor-null mutation and brain-derived neurotrophic factor (C270T) and to various known factors were analyzed.", "output": {"entities": {"gene": [{"text": "ciliary-neurotrophic-factor", "start": 190, "end": 217}], "disease": [{"text": "depression", "start": 31, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ciliary-neurotrophic-factor", "start": 190, "end": 217}, "tail": {"text": "depression", "start": 31, "end": 41}}]}}, "schema": []}
{"input": "Propranolol ameliorated the retinopathy score, restored occludin and albumin, and reduced hypoxia-induced plasma extravasation without influencing the vascular permeability induced by intravitreal VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 197, "end": 201}], "disease": [{"text": "hypoxia", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: We found that patients with vitiligo with the ERCC1 codon 118 CC genotype showed better efficacy after NB-UVB irradiation than those with the ERCC1 118 TT and CT genotypes, whereas no such association was documented among the genotypes of XPA A23G, XPC Ci11A or XPC C2919A.", "output": {"entities": {"gene": [{"text": "XPA", "start": 248, "end": 251}], "disease": [{"text": "vitiligo", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Genetic loss of SH2B3 in acute lymphoblastic leukemia.", "output": {"entities": {"gene": [{"text": "SH2B3", "start": 16, "end": 21}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 25, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SH2B3", "start": 16, "end": 21}, "tail": {"text": "acute lymphoblastic leukemia", "start": 25, "end": 53}}]}}, "schema": []}
{"input": "Our findings suggest that 16p11. 2 deletions are associated with abnormalities of renal and enteric development and we hypothesize that deletion of SH2B1 may account for the observed phenotype.", "output": {"entities": {"gene": [{"text": "SH2B1", "start": 148, "end": 153}], "disease": [{"text": "abnormalities", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We could find two asymptomatic MEN2A gene carriers who had no symptoms or signs of MEN 2A by DNA analysis of the RET proto-oncogene.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 113, "end": 131}], "disease": [{"text": "asymptomatic", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Dysfunctioning of corticotropin-releasing factor (CRF) and its receptors (CRF (1) and CRF (2)) has been linked to the development of stress-related disorders, such as affective disorders and drug abuse.", "output": {"entities": {"gene": [{"text": "CRF (2", "start": 86, "end": 92}], "disease": [{"text": "affective disorders", "start": 167, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF (2", "start": 86, "end": 92}, "tail": {"text": "affective disorders", "start": 167, "end": 186}}]}}, "schema": []}
{"input": "These amplified and persistent redox signals in PC3 cells leads to maintenance of Src oxidation and activation in the absence of adhesion, thereby sustaining a ligand-independent phosphorylation of epidermal growth factor receptor.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 198, "end": 230}], "disease": [{"text": "adhesion", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The analyses also showed that degree of steatosis, HOMA-IR > 2, mild fibrosis and IL28B CC genotype were significantly related to SVR in patients infected with HCV genotypes 1 & 4, but not in those with genotypes 2 & 3.", "output": {"entities": {"gene": [{"text": "IL28B", "start": 82, "end": 87}], "disease": [{"text": "mild", "start": 64, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Prevalence of COCH mutations worldwide is unknown, as there is no systematic screening effort for late-onset hearing disorders; however, to date, COCH mutations have been found on four continents and the possibility of COCH playing an important role in presbycusis and disorders of imbalance has been considered.", "output": {"entities": {"gene": [{"text": "COCH", "start": 14, "end": 18}], "disease": [{"text": "presbycusis", "start": 253, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Sonic hedgehog in gastric physiology and neoplastic transformation: friend or foe?", "output": {"entities": {"gene": [{"text": "Sonic hedgehog", "start": 0, "end": 14}], "disease": [{"text": "neoplastic transformation", "start": 41, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In human glioma spheroids and xenograft tumours, regions of severe hypoxia do not correspond to areas of up-regulated VEGF expression; in fact, VEGF expression is quite uniform.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 118, "end": 122}], "disease": [{"text": "hypoxia", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In this case the IgH locus and the bcl-2 gene are found in the order 3' C gamma S gamma/mu JH 5':: 5' bcl-2 3' (where C = constant, S = switch, and JH = joining segment of the heavy chain locus), suggesting that an inversion also occurred during the translocation process.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 35, "end": 40}], "disease": [{"text": "translocation", "start": 250, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Viral vector-mediated inhibition of one of the CREB-target genes regulated by chr-ECS, Fzd6, produced anxiety and depressive-like effects in behavioral models of depression.", "output": {"entities": {"gene": [{"text": "Fzd6", "start": 87, "end": 91}], "disease": [{"text": "anxiety", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We have evaluated single nucleotide polymorphisms (SNPs) in the FBXO11 gene for association with chronic otitis media with effusion/recurrent otitis media (COME/ROM).", "output": {"entities": {"gene": [{"text": "FBXO11 gene", "start": 64, "end": 75}], "disease": [{"text": "recurrent otitis media", "start": 132, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we found that the chemotherapy-sensitive ovarian tumor sections showed strong staining for heterochromatin protein 1-γ (HP1-γ), but weak staining for GRP78.", "output": {"entities": {"gene": [{"text": "HP1-γ", "start": 142, "end": 147}], "disease": [{"text": "ovarian tumor", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Virions bearing MR1-1-modified gC had fivefold increased infectivity for EGFRvIII-bearing human glioma U87 cells compared to mutant receptor-deficient cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 103, "end": 106}], "disease": [{"text": "glioma", "start": 96, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Clinical trials are revealing aspects of HPP pathophysiology not yet fully understood, such as craniosynostosis and muscle weakness when HPP is severe.", "output": {"entities": {"gene": [{"text": "HPP", "start": 41, "end": 44}], "disease": [{"text": "muscle weakness", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "PS-341 (VELCADE, bortezomib), a proteasome inhibitor used to treat human cancer, increases the levels of both HIF-2alpha and c-Myc and elevates the level of DR5 in renal cancer, sensitizing renal cancer cells to TRAIL therapy.", "output": {"entities": {"gene": [{"text": "DR5", "start": 157, "end": 160}], "disease": [{"text": "renal cancer", "start": 164, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "ETV1, which is mutated in prostate cancer more often, was degraded after being ubiquitinated by COP1.", "output": {"entities": {"gene": [{"text": "COP1", "start": 96, "end": 100}], "disease": [{"text": "prostate cancer", "start": 26, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "HCT-116 colon cancer cells were treated with CPT, OXP, and IL-6 separately or in combination in a time and dose-dependent manner and examined for phosphorylated and non-phosphorylated RKIP and STAT3 via Western blot analysis.", "output": {"entities": {"gene": [{"text": "RKIP", "start": 184, "end": 188}], "disease": [{"text": "colon cancer", "start": 8, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Statistical analysis revealed significant associations between expression of either Cyr61 or CTGF with tumor stage, tumor histology, metastasis, smoking, and family history at diagnosis.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 93, "end": 97}], "disease": [{"text": "smoking", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Here we found that obese and overweight but not normal weight FTO A allele carriers showed a lower performance on verbal fluency than non-carriers (homozygous for rs9939609 T allele).", "output": {"entities": {"gene": [{"text": "FTO", "start": 62, "end": 65}], "disease": [{"text": "overweight", "start": 29, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Our approach to the classification of cell' s likelihood to metastasize is based on screening for levels of expression of specific proteomic biomarkers associated with breast cancer stem cells.", "output": {"entities": {"gene": [{"text": "cell' s", "start": 38, "end": 45}], "disease": [{"text": "metastasize", "start": 60, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The standard BCL2 translocation was found in three samples, one obtained at diagnosis, one ten months later, and one after 5 years.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 13, "end": 17}], "disease": [{"text": "translocation", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The secretion of VEGF by endometrial cells under hypoxic conditions may also be important in the pathogenesis of endometriosis, because it would be predicted to assist revascularization of desquamated endometrial explants when they attach at ectopic sites.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "hypoxic", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In addition to its role in inhibiting tumor adhesion and invasion, TIMP3 induced the apoptosis and inhibited the growth of jeg-3 and bewo choriocarcinoma cells.", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 67, "end": 72}], "disease": [{"text": "adhesion", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Besides, pre-incubation with p38 mitogen-activated protein kinases (MAPK) inhibitor SB203580, C-Jun NH2-terminal protein kinases (JNK) inhibitor SP600125 and proteosome inhibitor MG-132 could significantly restrain the effects of IL-25 on surface expression of L-selectin, ICAM-1 and ICAM-3, respectively, and also on the adhesion of eosinophils onto fibronectin (all P < 0. 05).", "output": {"entities": {"gene": [{"text": "C-Jun", "start": 94, "end": 99}], "disease": [{"text": "adhesion", "start": 322, "end": 330}]}, "relations": {}}, "schema": []}
{"input": "Strikingly, highest VEGFA levels were demonstrated in AML blasts containing a t (8; 21) translocation, which involves the AML1/RUNX1 protein (AML1/ETO).", "output": {"entities": {"gene": [{"text": "AML1", "start": 122, "end": 126}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The results indicated that immature and mature keratin pearls in CIS and SCC were generated by oxidative stresses derived from erythro-hemophagocytosis, which might mediate HO-1 expression and be regulated by PAR-2.", "output": {"entities": {"gene": [{"text": "PAR", "start": 209, "end": 212}], "disease": [{"text": "hemophagocytosis", "start": 135, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the three-way translocation, including ETV6-RUNX1, was detected in five patients.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 59, "end": 64}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Hence, Slc4a10 is a promising pharmacological target for the therapy of epilepsy or elevated intracranial pressure.", "output": {"entities": {"gene": [{"text": "Slc4a10", "start": 7, "end": 14}], "disease": [{"text": "elevated intracranial pressure", "start": 84, "end": 114}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Slc4a10", "start": 7, "end": 14}, "tail": {"text": "elevated intracranial pressure", "start": 84, "end": 114}}]}}, "schema": []}
{"input": "We describe the beta-galactosidase expression in wild-type L17 mice and demonstrate the applicability of L17 mice to the study of the nervous system.", "output": {"entities": {"gene": [{"text": "L17", "start": 59, "end": 62}], "disease": [{"text": "nervous system", "start": 134, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that MRG has tumor-suppressing activity, and the loss of MRG expression may be involved in the development and progression of breast cancer.", "output": {"entities": {"gene": [{"text": "MRG", "start": 27, "end": 30}], "disease": [{"text": "tumor", "start": 35, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "VDR was not independently associated with body mass index, family history of colorectal cancer, tumor location (colon versus rectum), stage, tumor grade, signet ring cells, CIMP, MSI, LINE-1 hypomethylation, BRAF, p53, p21, beta-catenin, or cyclooxygenase-2.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 224, "end": 236}], "disease": [{"text": "body mass index", "start": 42, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "From this case, a lymphangiosarcoma cell line, MO-LAS, was established and its characteristics were compared with the hemangiosarcoma cell line, ISO-HAS.", "output": {"entities": {"gene": [{"text": "LAS", "start": 50, "end": 53}], "disease": [{"text": "hemangiosarcoma", "start": 118, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Thus, at-HMGB1 activation through RAGE may be responsible for sensory neuron sensitization and mechanical hyperalgesia associated with chronic neuropathic pain states.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 34, "end": 38}], "disease": [{"text": "mechanical hyperalgesia", "start": 95, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAGE", "start": 34, "end": 38}, "tail": {"text": "mechanical hyperalgesia", "start": 95, "end": 118}}]}}, "schema": []}
{"input": "Short-term gefitinib treatment brought about a long-term regression of bronchioloalveolar carcinoma without EGFR gene alterations: a case report.", "output": {"entities": {"gene": [{"text": "EGFR gene", "start": 108, "end": 117}], "disease": [{"text": "regression", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "GRPR-KO mice were found to present with increased depression-like behavior.", "output": {"entities": {"gene": [{"text": "GRPR", "start": 0, "end": 4}], "disease": [{"text": "depression", "start": 50, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRPR", "start": 0, "end": 4}, "tail": {"text": "depression", "start": 50, "end": 60}}]}}, "schema": []}
{"input": "Mutations in the ABCC6 gene cause soft-tissue calcification in pseudoxanthoma elasticum (PXE) and, in some patients, generalized arterial calcification of infancy (GACI).", "output": {"entities": {"gene": [{"text": "ABCC6 gene", "start": 17, "end": 27}], "disease": [{"text": "generalized arterial calcification", "start": 117, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is a dominant progressive disorder that maps to chromosome 9p21. 1-p12.", "output": {"entities": {"gene": [{"text": "p12", "start": 166, "end": 169}], "disease": [{"text": "frontotemporal dementia", "start": 66, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In non-neoplastic inflammation, such as gastritis, NOVA1 was highly enriched in T lymphocytes and stromal spindle cells, while expression of this protein was frequently decreased in those types of cells within gastric cancer tissues.", "output": {"entities": {"gene": [{"text": "NOVA1", "start": 51, "end": 56}], "disease": [{"text": "gastritis", "start": 40, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Nevertheless, DJ-1 possesses neither an amino-terminal alpha-helix nor a predictable matrix-targeting signal, and a post-translocation processing-derived molecular weight change is not observed.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 14, "end": 18}], "disease": [{"text": "translocation", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The expression of COX-2 and VEGF was determined in the RCC cell lines A498 and Caki-1 under short-term hypoxia and in multicellular tumour cell aggregates.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 28, "end": 32}], "disease": [{"text": "hypoxia", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In the final model, the only significant variables selected for smoking were OGG1, SLC6A4, EPHX1, ESR1, and CYP17A1, and for drinking, ALDH2 and NUDT1.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 135, "end": 140}], "disease": [{"text": "smoking", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.", "output": {"entities": {"gene": [{"text": "APBA2", "start": 63, "end": 68}], "disease": [{"text": "schizophrenia", "start": 72, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APBA2", "start": 63, "end": 68}, "tail": {"text": "schizophrenia", "start": 72, "end": 85}}]}}, "schema": []}
{"input": "KCNJ5-mutated APAs were composed mainly of zona fasciculata-like cells with high expression of CYP11B1, while ATP1A1, ATP2B3 and CACNA1D-mutated APAs presented more frequently a zona-glomerulosa-like phenotype with high expression of CYP11B2.", "output": {"entities": {"gene": [{"text": "CYP11B2", "start": 234, "end": 241}], "disease": [{"text": "zona", "start": 43, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Series of esophageal carcinomas (34 cases) and gastric carcinomas (25 cases) were examined for CpG methylation in p16/INK4 using methylation-specific PCR (MSP).", "output": {"entities": {"gene": [{"text": "MSP", "start": 155, "end": 158}], "disease": [{"text": "esophageal", "start": 10, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Aberrant methylation of Reprimo in human malignancies.", "output": {"entities": {"gene": [{"text": "Reprimo", "start": 24, "end": 31}], "disease": [{"text": "malignancies", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Sonic Hedgehog (SHH) is a regulator in tumorigenesis of hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "SHH", "start": 16, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "In addition, the enhancement of both OCT4 and SOX2 expression by the α subunit of hypoxia-inducible factors (HIF1α and HIF2α) was required for hypoxia-induced CD133 expression.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 46, "end": 50}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept.", "output": {"entities": {"gene": [{"text": "LTA", "start": 55, "end": 58}], "disease": [{"text": "early rheumatoid arthritis", "start": 103, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we provide the first genetic evidence that the GR gene can modulate cocaine abuse.", "output": {"entities": {"gene": [{"text": "GR", "start": 62, "end": 64}], "disease": [{"text": "cocaine abuse", "start": 83, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GR", "start": 62, "end": 64}, "tail": {"text": "cocaine abuse", "start": 83, "end": 96}}]}}, "schema": []}
{"input": "In the present study, the expression levels of stathmin and EF1α in relation to telomere length, telomere dysfunction-induced foci (TIF), γ-H2AX, and p21WAF1/CIP1 expression were assessed in specimens of hepatitis B virus (HBV)-related multistep hepatocarcinogenesis, including 13 liver cirrhosis specimens, 14 low-grade dysplastic nodules (DN), 17 high-grade DNs, and 14 hepatocellular carcinomas (HCC).", "output": {"entities": {"gene": [{"text": "H2AX", "start": 140, "end": 144}], "disease": [{"text": "hepatocarcinogenesis", "start": 246, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "We report on a novel heterozygous mutation of UBIAD1, G98S, in two patients with SCCD.", "output": {"entities": {"gene": [{"text": "UBIAD1", "start": 46, "end": 52}], "disease": [{"text": "SCCD", "start": 81, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBIAD1", "start": 46, "end": 52}, "tail": {"text": "SCCD", "start": 81, "end": 85}}]}}, "schema": []}
{"input": "Analysis of both reciprocal junctions for a translocation in the mcr region of bcl-2, showed that this 18q-junction also consisted of DH fused to a bcl-2 sequence.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 79, "end": 84}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We report on the roles of cdc27 and securin in aneuploidy and prognosis of breast cancer.", "output": {"entities": {"gene": [{"text": "securin", "start": 36, "end": 43}], "disease": [{"text": "aneuploidy", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Recent studies demonstrate that the neuropeptide VGF (nonacronymic) is regulated in the hippocampus by antidepressant therapies and animal models of depression and that acute VGF treatment has antidepressant-like activity in animal paradigms.", "output": {"entities": {"gene": [{"text": "VGF", "start": 49, "end": 52}], "disease": [{"text": "depression", "start": 149, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGF", "start": 49, "end": 52}, "tail": {"text": "depression", "start": 149, "end": 159}}]}}, "schema": []}
{"input": "The workshop also highlighted how plasmacytic differentiation can occur in chronic lymphocytic leukemia/small lymphocytic lymphoma, follicular lymphoma, SOX11 negative MCL, and particularly in marginal zone lymphomas, all of which can cause diagnostic confusion with LPL.", "output": {"entities": {"gene": [{"text": "SOX11", "start": 153, "end": 158}], "disease": [{"text": "confusion", "start": 252, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Drusenlike deposits were more selectively observed in carriers with mutations in the AIPL1, CRB1, RPE65, and RPGRIP1 genes, whereas mild peripheral chorioretinal atrophy was only observed in AIPL1 and RPE65 carriers.", "output": {"entities": {"gene": [{"text": "RPE65", "start": 98, "end": 103}], "disease": [{"text": "chorioretinal atrophy", "start": 148, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Here we sought to investigate the role of miR-223-RhoB signaling pathway in proliferation of colon cancer.", "output": {"entities": {"gene": [{"text": "miR-223", "start": 42, "end": 49}], "disease": [{"text": "colon cancer", "start": 93, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-223", "start": 42, "end": 49}, "tail": {"text": "colon cancer", "start": 93, "end": 105}}]}}, "schema": []}
{"input": "Glioma cell line U87-MG, three cell lines from human glioblastoma grade IV (glioma-derived mesenchymal stem cells) and three bmMSCs were selected for the experiment.", "output": {"entities": {"gene": [{"text": "U87", "start": 17, "end": 20}], "disease": [{"text": "glioma", "start": 76, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The 208delG (c. 72delG, p. Thr25GlnfsX120) mutation in the FSCN2 gene was reported to cause autosomal dominant retinitis pigmentosa (ADRP) and autosomal dominant macular degeneration (ADMD).", "output": {"entities": {"gene": [{"text": "ADRP", "start": 133, "end": 137}], "disease": [{"text": "macular degeneration", "start": 162, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The G (-173) A polymorphism of SCNN1G had a significant effect on systolic pressure (P = 0. 0050) and pulse pressure (P = 0. 0050).", "output": {"entities": {"gene": [{"text": "SCNN1G", "start": 31, "end": 37}], "disease": [{"text": "systolic pressure", "start": 66, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We propose that 3O-C (12)-HSL induction of Cox-2, membrane-associated PGE synthase, and PGE (2) likely contributes to the inflammation and lung pathology induced by P. aeruginosa infections in the lung.", "output": {"entities": {"gene": [{"text": "HSL", "start": 26, "end": 29}], "disease": [{"text": "inflammation", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial cell growth factor A (VEGF-A) and hypoxia play important roles in tumor angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 43, "end": 49}], "disease": [{"text": "hypoxia", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Quantitation of thyroid-stimulating hormone receptor mRNA with real-time PCR for early diagnosis of papillary thyroid microcarcinoma.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 36, "end": 52}], "disease": [{"text": "papillary thyroid microcarcinoma", "start": 100, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Considering the involvement of IL-6 in Castleman' s disease we treated the patient with thalidomide obtaining the remission of the nephrotic syndrome.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 31, "end": 35}], "disease": [{"text": "Castleman' s disease", "start": 39, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 31, "end": 35}, "tail": {"text": "Castleman' s disease", "start": 39, "end": 59}}]}}, "schema": []}
{"input": "Activation of the sonic hedgehog (Shh) signaling pathway controls tumorigenesis in a variety of cancers.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 18, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that downregulation of SAT1 expression may play a role in depression and suicidality, possibly by impeding the normal PSR program or through compensation for the increased polyamine metabolism accompanying the psychological distress associated with depressive disorders.", "output": {"entities": {"gene": [{"text": "PSR", "start": 141, "end": 144}], "disease": [{"text": "depression", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the & #945; & #946;-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia.", "output": {"entities": {"gene": [{"text": "TBCD", "start": 38, "end": 42}], "disease": [{"text": "spastic quadriplegia", "start": 458, "end": 478}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TBCD", "start": 38, "end": 42}, "tail": {"text": "spastic quadriplegia", "start": 458, "end": 478}}]}}, "schema": []}
{"input": "Changes in BP, body weight, total body fat-mass, waist-to-hip ratio, plasma norepinephrine (NE) and leptin levels, and beta2 (Arg16Gly)-and beta3 (Trp64Arg)-adrenoceptor polymorphisms were measured periodically over a 5-year period in 55 entry obese (body mass index [BMI] > or = 25. 0 kg/m (2)) normotensive (BP < 140/90 mmHg) men.", "output": {"entities": {"gene": [{"text": "beta2", "start": 119, "end": 124}], "disease": [{"text": "body mass index", "start": 251, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Functional assays were performed with adenovirus-mediated expression of DUSP6 in glioblastoma cultures.", "output": {"entities": {"gene": [{"text": "DUSP6", "start": 72, "end": 77}], "disease": [{"text": "glioblastoma", "start": 81, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DUSP6", "start": 72, "end": 77}, "tail": {"text": "glioblastoma", "start": 81, "end": 93}}]}}, "schema": []}
{"input": "These findings suggest that increased genomic instability in malignant melanoma is associated with elevated protein levels of this DNA repair enzyme.", "output": {"entities": {"gene": [{"text": "DNA repair enzyme", "start": 131, "end": 148}], "disease": [{"text": "genomic instability", "start": 38, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In moderately differentiated (G2) colon carcinomas, reduction of DPD and Per1 mRNA levels did not reach significance, but a significant correlation between the respective mRNA levels was detectable (r = 0. 54; P < 0. 05).", "output": {"entities": {"gene": [{"text": "Per1", "start": 73, "end": 77}], "disease": [{"text": "carcinomas", "start": 40, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "These results suggest GATA-3 and Txk might be involved in skin lesions, while SOCS-3 might be associated with an imbalance of cytokines that is difficult to normalize in atopic dermatitis.", "output": {"entities": {"gene": [{"text": "SOCS-3", "start": 78, "end": 84}], "disease": [{"text": "skin lesions", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of human erythropoietin (EPO) affects plant morphologies: retarded vegetative growth in tobacco and male sterility in tobacco and Arabidopsis.", "output": {"entities": {"gene": [{"text": "EPO", "start": 40, "end": 43}], "disease": [{"text": "male sterility", "start": 115, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "This was associated with increases in the expression of cyclins A and E. Furthermore, LGMN expression was increased in hepatocellular carcinoma cells relative to normal hepatocytes in the same specimens.", "output": {"entities": {"gene": [{"text": "LGMN", "start": 86, "end": 90}], "disease": [{"text": "hepatocellular carcinoma", "start": 119, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Lower expressions of BORIS were found in head and neck, breast, kidney, bladder, testicular and prostate carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "BORIS", "start": 21, "end": 26}], "disease": [{"text": "prostate carcinoma", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Epilepsy has been never reported so far in literature as a possible feature of Stickler syndrome, although neurological presentations, including epilepsy and brain abnormalities, have been occasionally described in other COL2A1-related phenotypes (e. g., Legg-Calvè-Perthes disease).", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 221, "end": 227}], "disease": [{"text": "abnormalities", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In this latter scenario, the sebaceous tumours can present microsatellite instability (MSI) and loss of mismatch repair (MMR) proteins, characteristic of hereditary syndromes, even in the absence of MMR germline mutations.", "output": {"entities": {"gene": [{"text": "MMR", "start": 121, "end": 124}], "disease": [{"text": "microsatellite instability", "start": 59, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We have found that EPO treatment substantially reduces the acute clinical paralysis seen in EAE mice and this improvement is accompanied by a large reduction in the mononuclear cell infiltration and downregulation of glial MHC class II expression within the inflamed CNS.", "output": {"entities": {"gene": [{"text": "EPO", "start": 19, "end": 22}], "disease": [{"text": "paralysis", "start": 74, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, decreases in TER occurred in conjunction with cytoskeletal rearrangement, suggesting a direct mechanism for viral infection-mediated endothelial barrier disruption.", "output": {"entities": {"gene": [{"text": "TER", "start": 26, "end": 29}], "disease": [{"text": "viral infection", "start": 121, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We determined, microsatellite instability (MSI) as a marker for MMR inactivation (analysis of BAT25 and BAT26), MLH1 promoter methylation status (methylation specific PCR on bisulfite treated DNA) and mRNA expression of MLH1, MSH2, MSH3, MSH6 and PMS2 (quantitative RT-PCR) in 75 ovarian carcinomas and eight ovarian cancer cell lines MSI was detected in three of the eight cell lines i. e.", "output": {"entities": {"gene": [{"text": "MMR", "start": 64, "end": 67}], "disease": [{"text": "microsatellite instability", "start": 15, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Dysfunction of MMR genes leads to loss of MMR protein expression and to microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 15, "end": 18}], "disease": [{"text": "microsatellite instability", "start": 72, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Immunofluorescence showed that heparanase and VEGF staining was intense in hypoxia-treated HRECs and OIR mice retina, while VEGF staining was faint in the normoxia and PI-88-treated ones.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 46, "end": 50}], "disease": [{"text": "hypoxia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Absence of CYP1A2 resulted in significant splenic atrophy at PND13 and PND28.", "output": {"entities": {"gene": [{"text": "CYP1A2", "start": 11, "end": 17}], "disease": [{"text": "splenic atrophy", "start": 42, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Plasma beta-endorphin levels were elevated in dogs with congestive heart failure.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 7, "end": 21}], "disease": [{"text": "congestive heart failure", "start": 56, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-endorphin", "start": 7, "end": 21}, "tail": {"text": "congestive heart failure", "start": 56, "end": 80}}]}}, "schema": []}
{"input": "Bcl-xL mRNA and protein could be readily detected in mesothelioma cell lines, whereas only low levels of Bcl-2 mRNA and protein were found.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 0, "end": 6}], "disease": [{"text": "mesothelioma", "start": 53, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "We recently found that AD subjects homozygous for long alleles (l) of an insertion/deletion polymorphism in the promoter region of the serotonin transporter (5-HTTPR) had elevated rates of aggressive behavior.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 135, "end": 156}], "disease": [{"text": "aggressive behavior", "start": 189, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Hdac3-Tg mice did not develop cardiac hypertrophy at 3 months of age, unlike previously reported Hdac2-Tg mice.", "output": {"entities": {"gene": [{"text": "Hdac2", "start": 97, "end": 102}], "disease": [{"text": "cardiac hypertrophy", "start": 30, "end": 49}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hdac2", "start": 97, "end": 102}, "tail": {"text": "cardiac hypertrophy", "start": 30, "end": 49}}]}}, "schema": []}
{"input": "Use of WSLP to deliver hypoxia-responsive driven expression of hVEGF to ischemic rabbit myocardium has proven to provide for even better expression in cardiovascular cells than Terplex and has demonstrated a significant reduction in infarct size (13 +/-4%, p < 0. 001) over constitutive VEGF expression (32 +/-7%, p = 0. 007) and sham-injected controls (48 +/-7%).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 64, "end": 68}], "disease": [{"text": "infarct", "start": 233, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that STAG2 is a new UBC tumor suppressor acting through mechanisms that are different from its role in preventing aneuploidy.", "output": {"entities": {"gene": [{"text": "UBC", "start": 42, "end": 45}], "disease": [{"text": "aneuploidy", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Immunization of B10. PL mice with a recombinant adenovirus expressing the TCR Vbeta8. 2 chain (Ad5E1 mVbeta8. 2), resulted in induction of regulatory type 1 CD4 T cells, directed against the framework region 3 determinant within the B5 peptide (aa 76-101) of the Vbeta8. 2 chain.", "output": {"entities": {"gene": [{"text": "B10", "start": 16, "end": 19}], "disease": [{"text": "adenovirus", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Fewer days of neutropenia were noted after 5-FU plus IL-1 beta than after 5-FU alone; however, this difference did not reach statistical significance.", "output": {"entities": {"gene": [{"text": "IL-1 beta", "start": 53, "end": 62}], "disease": [{"text": "neutropenia", "start": 14, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1 beta", "start": 53, "end": 62}, "tail": {"text": "neutropenia", "start": 14, "end": 25}}]}}, "schema": []}
{"input": "In the absence of p53, PTTG causes aneuploidy.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 23, "end": 27}], "disease": [{"text": "aneuploidy", "start": 35, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Paradoxically, increased P450scc induction in rats experiencing SE for 180 min or more was associated with the delayed onset of spontaneous recurrent seizures.", "output": {"entities": {"gene": [{"text": "P450scc", "start": 25, "end": 32}], "disease": [{"text": "seizures", "start": 150, "end": 158}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "P450scc", "start": 25, "end": 32}, "tail": {"text": "seizures", "start": 150, "end": 158}}]}}, "schema": []}
{"input": "Here we show that, in the seizure-sensitive (SS) gerbil hippocampus, a recognized genetic epilepsy model, the expressions of both P2X2 and P2X4 receptors are markedly decreased as compared with that in the seizure-resistant (SR) gerbil.", "output": {"entities": {"gene": [{"text": "P2X2", "start": 130, "end": 134}], "disease": [{"text": "epilepsy", "start": 90, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P2X2", "start": 130, "end": 134}, "tail": {"text": "epilepsy", "start": 90, "end": 98}}]}}, "schema": []}
{"input": "RT-PCR products with the predicted size and sequence of PTI-1 are detected in RNAs from cell lines of human prostate, breast, and colon carcinomas.", "output": {"entities": {"gene": [{"text": "PTI", "start": 56, "end": 59}], "disease": [{"text": "carcinomas", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We aimed to evaluate the role of defects in the DNA mismatch repair (MMR) mechanism and microsatellite instability (MSI) in relation to the most frequent genetic anomaly, translocation t (11; 18) (q21; q21), in gastric mucosa-associated lymphoid tissue (MALT) lymphoma.", "output": {"entities": {"gene": [{"text": "MMR", "start": 69, "end": 72}], "disease": [{"text": "microsatellite instability", "start": 88, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "These findings have implications for the role of p63 in both development and tumorigenesis.", "output": {"entities": {"gene": [{"text": "p63", "start": 49, "end": 52}], "disease": [{"text": "tumorigenesis", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To further examine NT stimulation of c-Yes in melanoma cells, three additional cell lines were examined.", "output": {"entities": {"gene": [{"text": "c-Yes", "start": 37, "end": 42}], "disease": [{"text": "melanoma", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Mutation of hnRNP A1-binding sites prevented hypoxia-induced skipping of SMN exon 7 and was found to bind both hnRNP A1 and Sam68.", "output": {"entities": {"gene": [{"text": "SMN", "start": 73, "end": 76}], "disease": [{"text": "hypoxia", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "AID and GANP, both appearing in antigen-driven B cells, are involved in affinity maturation of the immunoglobulin V-region with increased somatic mutation.", "output": {"entities": {"gene": [{"text": "GANP", "start": 8, "end": 12}], "disease": [{"text": "somatic mutation", "start": 138, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "A PLD2-specific inhibitor and siRNA directed against PLD2 were used to treat HT29 and HCT116 colorectal cancer cells, and both inhibition and genetic knockdown of PLD2 in these cells significantly induced autophagy, as demonstrated by the visualization of light chain 3 (LC3) puncta and autophagic vacuoles as well as by determining the LC3-II protein level.", "output": {"entities": {"gene": [{"text": "LC3", "start": 271, "end": 274}], "disease": [{"text": "autophagic vacuoles", "start": 287, "end": 306}]}, "relations": {}}, "schema": []}
{"input": "Together, these findings provide new insight into the underlying molecular mechanisms of depression and antidepressant action, and support the antidepressant potential of HDAC inhibitors and perhaps other agents that act at the level of chromatin structure.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 171, "end": 175}], "disease": [{"text": "depression", "start": 89, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC", "start": 171, "end": 175}, "tail": {"text": "depression", "start": 89, "end": 99}}]}}, "schema": []}
{"input": "We evaluated the effect of moderate alcohol consumption, the CETP gene polymorphism and clinical variables on HDL cholesterol and other lipoprotein parameters in insulin-dependent diabetic (IDDM) men.", "output": {"entities": {"gene": [{"text": "CETP gene", "start": 61, "end": 70}], "disease": [{"text": "alcohol consumption", "start": 36, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Therefore, recombinant CL1 shows excellent potential for the development of the first standardized assay for the sensitive and specific diagnosis of human fascioliasis.", "output": {"entities": {"gene": [{"text": "CL1", "start": 23, "end": 26}], "disease": [{"text": "fascioliasis", "start": 155, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Relevance of BCAR4 in tamoxifen resistance and tumour aggressiveness of human breast cancer.", "output": {"entities": {"gene": [{"text": "BCAR4", "start": 13, "end": 18}], "disease": [{"text": "breast cancer", "start": 78, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCAR4", "start": 13, "end": 18}, "tail": {"text": "breast cancer", "start": 78, "end": 91}}]}}, "schema": []}
{"input": "CONCLUSION: Under hypoxia, NPFs contribute to NP propagation by expressing Cyr61, which subsequently stimulates VEGF and IL-8 production, leading to angiogenesis and activating neutrophil infiltration in NPs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 112, "end": 116}], "disease": [{"text": "hypoxia", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "By RT-PCR, AFP and PSA mRNA were detected in several tumors, including salivary pleomorphic adenoma, hilar bile duct carcinoma, pancreatic carcinoma, transitional cell carcinoma of urinary bladder and thyroid papillary carcinoma.", "output": {"entities": {"gene": [{"text": "PSA", "start": 19, "end": 22}], "disease": [{"text": "pleomorphic adenoma", "start": 80, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "By transfection, these sequences have been expressed in insect cells and developed into serological assays, revealing HERV-K10 antibodies in patients with testicular cancer.", "output": {"entities": {"gene": [{"text": "K10", "start": 123, "end": 126}], "disease": [{"text": "testicular cancer", "start": 155, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We discuss the potential structural and functional significance of this mutation pattern within the context of the complex relationship between the PXE phenotype and the function of ABCC6.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 182, "end": 187}], "disease": [{"text": "PXE", "start": 148, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 182, "end": 187}, "tail": {"text": "PXE", "start": 148, "end": 151}}]}}, "schema": []}
{"input": "Bone-destructive disease treatments include bisphosphonates and antibodies against the osteoclast differentiator, RANKL (aRANKL); however, osteonecrosis of the jaw (ONJ) is a frequent side-effect.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 114, "end": 119}], "disease": [{"text": "osteonecrosis", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "In vitro experiments using human pulmonary smooth muscle cells showed that hypoxic stress increased the proliferation and migration of cells in a Pyk2-dependent manner.", "output": {"entities": {"gene": [{"text": "Pyk2", "start": 146, "end": 150}], "disease": [{"text": "hypoxic", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.", "output": {"entities": {"gene": [{"text": "asporin", "start": 376, "end": 383}], "disease": [{"text": "keloid", "start": 84, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "asporin", "start": 376, "end": 383}, "tail": {"text": "keloid", "start": 84, "end": 90}}]}}, "schema": []}
{"input": "The aim of this study was to determine the expression of neurotrophic factors (nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), ciliary neurotrophic factor (CNTF), and neurotrophin (NT)-3, NT-4/5) in pterygeal tissue and to confirm whether tumor-necrosis factor-alpha (TNF-alpha) modulates the expression of these neurotrophic factors in primary cultured pterygeal fibroblasts.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 141, "end": 145}], "disease": [{"text": "necrosis", "start": 266, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "When injected intravenously, PACAP induced a significant, concentration-dependent vascular response (ie, flush, erythema, edema) and mediated a significant and concentration-dependent increase in intrarectal body temperature that peaked at 2. 7 ° C.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 29, "end": 34}], "disease": [{"text": "erythema", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The expression of the RUNX3 and β-catenin proteins was evaluated by immunohistochemistry in 23 normal colorectal mucosa (NCM), 81 sporadic colorectal tubular adenomas with different dysplasias (SCTA-D) (mild n = 33, moderate n = 23, and severe n = 25 dysplasia), and 48 sporadic colorectal tubular adenomas with cancerous changes (SCTA-Ca).", "output": {"entities": {"gene": [{"text": "RUNX3", "start": 22, "end": 27}], "disease": [{"text": "mild", "start": 203, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.", "output": {"entities": {"gene": [{"text": "CYP19A1", "start": 113, "end": 120}], "disease": [{"text": "Aromatase deficiency", "start": 0, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP19A1", "start": 113, "end": 120}, "tail": {"text": "Aromatase deficiency", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "We successfully constructed a stable U87 glioma cell line, U87-K5-Egr1-NIS.", "output": {"entities": {"gene": [{"text": "U87", "start": 37, "end": 40}], "disease": [{"text": "glioma", "start": 41, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Miliary never-smoking adenocarcinoma of the lung: strong association with epidermal growth factor receptor exon 19 deletion.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 74, "end": 106}], "disease": [{"text": "smoking", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Classical galactosemia is an autosomal recessive inborn error of metabolism due to mutations of the GALT gene leading to toxic accumulation of galactose and derived metabolites.", "output": {"entities": {"gene": [{"text": "GALT", "start": 100, "end": 104}], "disease": [{"text": "Classical galactosemia", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALT", "start": 100, "end": 104}, "tail": {"text": "Classical galactosemia", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "Functional assays using ex vivo liver tissue sections demonstrate that Klf11-/-mice display increased insulin sensitivity.", "output": {"entities": {"gene": [{"text": "Klf11", "start": 71, "end": 76}], "disease": [{"text": "insulin sensitivity", "start": 102, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, CHGB and SLC2A11 may be significant in PRL tumor progression and serve as molecular biomarkers for PRL tumors.", "output": {"entities": {"gene": [{"text": "CHGB", "start": 13, "end": 17}], "disease": [{"text": "tumor progression", "start": 56, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "HBx increases the protein stability of Gli proteins, which are key transcription factors of the Hedgehog signaling pathway, and nucleus translocation of Gli1 through direct protein interaction of HBx and Gli1.", "output": {"entities": {"gene": [{"text": "Gli1", "start": 153, "end": 157}], "disease": [{"text": "translocation", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "NGAL overexpression may promote the tumorigenesis and progression of CRC.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The JAK2 (V617F) mutation load in hetero-/homozygous PV and EMGM is clearly related to MPN disease burden in terms of splenomegaly, constitutional symptoms and fibrosis.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 4, "end": 8}], "disease": [{"text": "fibrosis", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "MYC rearrangement, a characteristic cytogenetic abnormality of Burkitt lymphoma and several subsets of other mature B-cell neoplasms, typically involves an immunoglobulin gene partner.", "output": {"entities": {"gene": [{"text": "MYC", "start": 0, "end": 3}], "disease": [{"text": "cytogenetic abnormality", "start": 36, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The findings provide additional support for a common effect of genes coding for cell adhesion molecules (e. g., CDH13, ASTN2) and regulators of synaptic plasticity (e. g., CTNNA2, KALRN) despite the complex multifactorial etiologies of adult ADHD and addiction vulnerability.", "output": {"entities": {"gene": [{"text": "KALRN", "start": 180, "end": 185}], "disease": [{"text": "addiction", "start": 251, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "To better define the neuropathology associated with FUS mutations, we have undertaken a detailed comparative analysis of six cases of ALS-FUS that include sporadic and familial cases, with both juvenile and adult onset, and with four different FUS mutations.", "output": {"entities": {"gene": [{"text": "FUS", "start": 52, "end": 55}], "disease": [{"text": "sporadic", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We examined NFKBIA expression, mutations in the EGFR and K-ras genes, and EML4-ALK fusion in 101 resected lung adenocarcinoma samples from never-smokers.", "output": {"entities": {"gene": [{"text": "NFKBIA", "start": 12, "end": 18}], "disease": [{"text": "lung adenocarcinoma", "start": 106, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Here we studied the expression of NKR (i. e., NKG2C, NKG2A, LILRB1, CD161) and the frequency of the NKG2C gene deletion in children with past congenital infection, both symptomatic (n = 15) and asymptomatic (n = 11), including as controls children with postnatal infection (n = 11) and noninfected (n = 20).", "output": {"entities": {"gene": [{"text": "NKG2A", "start": 53, "end": 58}], "disease": [{"text": "asymptomatic", "start": 194, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.", "output": {"entities": {"gene": [{"text": "keratin 10", "start": 38, "end": 48}], "disease": [{"text": "annular epidermolytic ichthyosis", "start": 52, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 10", "start": 38, "end": 48}, "tail": {"text": "annular epidermolytic ichthyosis", "start": 52, "end": 84}}]}}, "schema": []}
{"input": "Thyroid carcinoma cell lines of different histogenetic background display profoundly different patterns of IRM expression that appear to correlate with tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "IRM", "start": 107, "end": 110}], "disease": [{"text": "aggressiveness", "start": 158, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In multiple members of the well-studied KE family, a heterozygous missense mutation in FOXP2 causes problems in sequencing muscle movements required for articulating speech (developmental verbal dyspraxia), accompanied by wider deficits in linguistic and grammatical processing.", "output": {"entities": {"gene": [{"text": "FOXP2", "start": 87, "end": 92}], "disease": [{"text": "developmental verbal dyspraxia", "start": 174, "end": 204}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXP2", "start": 87, "end": 92}, "tail": {"text": "developmental verbal dyspraxia", "start": 174, "end": 204}}]}}, "schema": []}
{"input": "The translocation-Ets-leukaemia (TEL) and AML1 genes are very often involved in chromosomal translocations in haematopoietic malignancies.", "output": {"entities": {"gene": [{"text": "AML1", "start": 42, "end": 46}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "LGI1 mutations were found in two of four ADPEAF families, but in none of the other 50 families nor in the 21 individuals with sporadic TLE.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We showed that GSTM1 deficiency was not involved in smoking-induced vascular diseases, but p53 polymorphisms tended to modify the disease severity in smokers.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 15, "end": 20}], "disease": [{"text": "vascular diseases", "start": 68, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We have identified recessive mutations in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.", "output": {"entities": {"gene": [{"text": "ANO5", "start": 42, "end": 46}], "disease": [{"text": "MMD3", "start": 195, "end": 199}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ANO5", "start": 42, "end": 46}, "tail": {"text": "MMD3", "start": 195, "end": 199}}]}}, "schema": []}
{"input": "This study emphasizes the role of ADAMTS13 mutations in the pathogenesis of congenital TTP and suggests that several structural domains of this metalloprotease are involved in both its biogenesis and its substrate recognition process.", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 34, "end": 42}], "disease": [{"text": "congenital TTP", "start": 76, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS13", "start": 34, "end": 42}, "tail": {"text": "congenital TTP", "start": 76, "end": 90}}]}}, "schema": []}
{"input": "Two complementary genetic approaches were used: 1) linkage analyses between obesity and polymorphic markers located nearby NPY and rNPY-Y1/-Y5 genes (respectively on chromosomes 7p15. 1 and 4q [31. 3-32]) in 93 French Caucasian morbidly obese families; 2) single strand conformation polymorphism (SSCP) scanning of the coding region of the NPY and rNPY-Y1 genes performed in 50 unrelated obese patients ascertained on the basis of a body mass index of 27 kg/m2 or more and a family history of obesity.", "output": {"entities": {"gene": [{"text": "NPY", "start": 123, "end": 126}], "disease": [{"text": "body mass index", "start": 433, "end": 448}]}, "relations": {}}, "schema": []}
{"input": "By inhibiting AKT and human kinase interacting stathmin (hKIS), trastuzumab blocks Thr157-, Thr198-and Ser10-induced p27Kip1 translocation from the nucleus to the cytosol, which increases the inhibitory effect of p27Kip1.", "output": {"entities": {"gene": [{"text": "AKT", "start": 14, "end": 17}], "disease": [{"text": "translocation", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We conclude that subtle variants that are central in functionally important domains of POLR2A cause a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay through a dominant-negative effect on pol-II-mediated transcription of DNA.", "output": {"entities": {"gene": [{"text": "POLR2A", "start": 87, "end": 93}], "disease": [{"text": "developmental delay", "start": 186, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POLR2A", "start": 87, "end": 93}, "tail": {"text": "developmental delay", "start": 186, "end": 205}}]}}, "schema": []}
{"input": "A significant correlation was found between CAV-1 mRNA expression levels in VAT and different circulating inflammatory markers such as sialic acid (SA) (P < 0. 001) and fibrinogen (P < 0. 001) as well as with MCP1 mRNA expression (P < 0. 05).", "output": {"entities": {"gene": [{"text": "CAV", "start": 44, "end": 47}], "disease": [{"text": "fibrinogen", "start": 169, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "311, 629-634] have recently described a family in which hyperproinsulinemia is inherited in an autosomal dominant pattern, suggesting a structural abnormality in the proinsulin molecule as the basis for this disorder.", "output": {"entities": {"gene": [{"text": "proinsulin", "start": 61, "end": 71}], "disease": [{"text": "hyperproinsulinemia", "start": 56, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "proinsulin", "start": 61, "end": 71}, "tail": {"text": "hyperproinsulinemia", "start": 56, "end": 75}}]}}, "schema": []}
{"input": "Moreover, using a RNA ligase-dead mutant, we determine that the ligase activity of worm RTCB-1 is required for its neuroprotective role, which, in turn, is mediated through XBP-1 in the UPR pathway.", "output": {"entities": {"gene": [{"text": "RTCB", "start": 88, "end": 92}], "disease": [{"text": "worm", "start": 83, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia.", "output": {"entities": {"gene": [{"text": "ceruloplasmin", "start": 15, "end": 28}], "disease": [{"text": "Menkes disease", "start": 71, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ceruloplasmin", "start": 15, "end": 28}, "tail": {"text": "Menkes disease", "start": 71, "end": 85}}]}}, "schema": []}
{"input": "However, the mechanism by which these mutations induce cytotoxicity is unclear since the GPI-SP is replaced by a GPI anchor within 5 min of PrP synthesis and translocation into the endoplasmic reticulum (ER).", "output": {"entities": {"gene": [{"text": "GPI", "start": 89, "end": 92}], "disease": [{"text": "translocation", "start": 158, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The study presented here was performed to investigate the association between the ACE genotype, microalbuminuria, retinopathy, and left ventricular hypertrophy in 106 patients with essential hypertension.", "output": {"entities": {"gene": [{"text": "ACE", "start": 82, "end": 85}], "disease": [{"text": "microalbuminuria", "start": 96, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Pttg1 may increase BC cell growth through nuclear exclusion of p27, which highlights a novel molecular regulatory machinery in tumorigenesis of BC.", "output": {"entities": {"gene": [{"text": "p27", "start": 63, "end": 66}], "disease": [{"text": "tumorigenesis", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "As Top1 has recently been shown to be involved in many transcription-associated genome instabilities, it is likely that AID took advantage of basic genome instability or diversification to evolve its mechanism for immune diversity.", "output": {"entities": {"gene": [{"text": "AID", "start": 120, "end": 123}], "disease": [{"text": "genome instability", "start": 148, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "IL-1beta-induced ICAM-1 expression, extracellular signal-regulated kinase (ERK) and c-Jun-N-terminal kinase (JNK) phosphorylation, AP-1 activation, and nuclear factor-kappaB (NF-kappaB) p65 translocation were attenuated by the inhibitors of MEK1/2 (U0126), JNK (SP600125), AP-1 (tanshinone IIA), and NF-kappaB (helenalin) or transfection with respective short hairpin RNA plasmids.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 241, "end": 245}], "disease": [{"text": "translocation", "start": 190, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate a radiation-induced increase in immunoreactive annexin I in cultured lung fibroblasts, but fail to support the hypothesis of a positive correlation between annexin I concentration and fibrosis in irradiated rat lung.", "output": {"entities": {"gene": [{"text": "annexin I", "start": 70, "end": 79}], "disease": [{"text": "fibrosis", "start": 207, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "RPN2-mediated glycosylation of tetraspanin CD63 regulates breast cancer cell malignancy.", "output": {"entities": {"gene": [{"text": "RPN2", "start": 0, "end": 4}], "disease": [{"text": "malignancy", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "As PLTP, LCAT, and hepatic lipase may enhance reverse cholesterol transport, it is tempting to speculate that high levels of these factors in association with insulin resistance could be involved in an antiatherogenic mechanism.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 9, "end": 13}], "disease": [{"text": "insulin resistance", "start": 159, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Thirdly, recent evidence unravels a pathological role of ADAP1 because upregulation of ADAP1 by amyloid β-peptide causes ADAP1-Ras-ERK-dependent translocation of Elk-1 to mitochondria.", "output": {"entities": {"gene": [{"text": "ADAP1", "start": 57, "end": 62}], "disease": [{"text": "translocation", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Dronabinol affected fasting proximal MI in patients with IBS with diarrhea or alternating with the variant FAAH CA/AA (P =. 013).", "output": {"entities": {"gene": [{"text": "FAAH", "start": 107, "end": 111}], "disease": [{"text": "diarrhea", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "MC4R mutations result in an autosomal codominant form of obesity with variable expressivity.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 0, "end": 4}], "disease": [{"text": "variable expressivity", "start": 70, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "To test this theory, we evaluated the effects of mono-and bispecific oligos (with intrastrand complementarity), targeting BCL-2, upon the expression of non-targeted proteins PSMA, PSA and interferon-gamma (IFN-γ) in LNCaP cells.", "output": {"entities": {"gene": [{"text": "IFN", "start": 206, "end": 209}], "disease": [{"text": "mono", "start": 49, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Both hypoxia and interleukin-17A (IL-17A) promote the migration and invasion of fibroblast-like synoviocytes (FLSs), which are critical for the pathogenesis of rheumatoid arthritis (RA).", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 34, "end": 40}], "disease": [{"text": "hypoxia", "start": 5, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 90, "end": 95}], "disease": [{"text": "Charcot-Marie-Tooth disease type 1A", "start": 0, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 90, "end": 95}, "tail": {"text": "Charcot-Marie-Tooth disease type 1A", "start": 0, "end": 35}}]}}, "schema": []}
{"input": "The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa.", "output": {"entities": {"gene": [{"text": "myosin VIIA", "start": 24, "end": 35}], "disease": [{"text": "vestibular dysfunction", "start": 159, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "In this work, we present the sequencing of these genes in a set of ADLTE families without mutations in both LGI1/Epitempin and sporadic cases.", "output": {"entities": {"gene": [{"text": "Epitempin", "start": 113, "end": 122}], "disease": [{"text": "sporadic", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Our data provide evidence that TCF-1-mediated Wnt signaling is disturbed in small intestinal CD, which might contribute to the observed barrier dysfunction in the disease.", "output": {"entities": {"gene": [{"text": "TCF-1", "start": 31, "end": 36}], "disease": [{"text": "CD", "start": 93, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TCF-1", "start": 31, "end": 36}, "tail": {"text": "CD", "start": 93, "end": 95}}]}}, "schema": []}
{"input": "Most patients with FXI deficiency are mild bleeders but certain patients with similar FXI activity exhibit different bleeding phenotype.", "output": {"entities": {"gene": [{"text": "FXI", "start": 19, "end": 22}], "disease": [{"text": "bleeding", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "We showed that AGK was over-expressed in cervical cancer cell lines and clinical tissues, and over-expression of AGK was associated with poor survival outcomes of early-stage CSCC patients.", "output": {"entities": {"gene": [{"text": "AGK", "start": 15, "end": 18}], "disease": [{"text": "cervical cancer", "start": 41, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Cloning of both breakpoints revealed that the translocation does not interrupt the TWIST1 coding region, on 7p21, known to be causative for SCS, but downregulates TWIST1 expression due to a position effect.", "output": {"entities": {"gene": [{"text": "TWIST1", "start": 83, "end": 89}], "disease": [{"text": "translocation", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the data presented here demonstrate that co-transduction of RPL23 enhances the therapeutic efficacy of adenoviral-mediated p53 gene transfer in models of human gastric cancer and support the use of this strategy for cancer treatment.", "output": {"entities": {"gene": [{"text": "RPL23", "start": 76, "end": 81}], "disease": [{"text": "gastric cancer", "start": 176, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Ewing' s sarcoma cells also exhibited the potential for neural differentiation at the mRNA level; neuron-specific medium-and low-sized filament (NF-M and NF-L) expression was induced by dibutyryladenosine cyclic monophosphate.", "output": {"entities": {"gene": [{"text": "NF-M", "start": 145, "end": 149}], "disease": [{"text": "sarcoma", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "The effects of Sonic hedgehog (Shh) signaling pathway activation on S-type neuroblastoma (NB) cell lines and its role in NB tumorigenesis were investigated.", "output": {"entities": {"gene": [{"text": "Sonic hedgehog", "start": 15, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Fabry disease: 20 novel GLA mutations in 35 families.", "output": {"entities": {"gene": [{"text": "GLA", "start": 24, "end": 27}], "disease": [{"text": "Fabry disease", "start": 0, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLA", "start": 24, "end": 27}, "tail": {"text": "Fabry disease", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "In melanoma cells, epigenetic silencing of OSM receptor (OSMR) by histone deacetylation contributes to escape of cell growth control by OSM.", "output": {"entities": {"gene": [{"text": "OSM", "start": 43, "end": 46}], "disease": [{"text": "melanoma", "start": 3, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "When adjusted for sex, age, tumor stage and microsatellite instability (MSI) status, four polymorphisms were independent predictors of OS in the discovery cohort MTHFR Glu429Ala (HR: 1. 72, 95% CI: 1. 04-2. 84, p = 0. 036), ERCC5 His46His (HR: 1. 78, 95% CI: 1. 15-2. 76, p = 0. 01), SERPINE1-675indelG (HR: 0. 52, 95% CI: 0. 32-0. 84, p = 0. 008), and the homozygous deletion of GSTM1 gene (HR: 1. 4, 95% CI: 1. 03-1. 92, p = 0. 033).", "output": {"entities": {"gene": [{"text": "GSTM1 gene", "start": 380, "end": 390}], "disease": [{"text": "microsatellite instability", "start": 44, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that an alteration of the p21 protein may be relevant in inducing an adrenocortical adenoma, a well differentiated and slowly growing benign tumour.", "output": {"entities": {"gene": [{"text": "p21", "start": 46, "end": 49}], "disease": [{"text": "benign tumour", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Spreds, a recently established class of negative regulators of the Ras-ERK (extracellular signal-regulated kinase) pathway, are involved in hematogenesises, allergic disorders and tumourigenesis.", "output": {"entities": {"gene": [{"text": "ERK", "start": 71, "end": 74}], "disease": [{"text": "allergic disorders", "start": 157, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays.", "output": {"entities": {"gene": [{"text": "DBS", "start": 157, "end": 160}], "disease": [{"text": "limb-girdle muscular dystrophy", "start": 67, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Deletions or mutations of LIS1 on 17p13. 3 and mutations in XLIS (DCX) on Xq22. 3-q23 produce LIS.", "output": {"entities": {"gene": [{"text": "XLIS", "start": 60, "end": 64}], "disease": [{"text": "DCX", "start": 66, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XLIS", "start": 60, "end": 64}, "tail": {"text": "DCX", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "To find out whether polymorphisms 333-Ile/Val and 637-Asp/Gly of the transporter part of the antigen processing 1 gene (TAP1) are associated with the development of nasopharyngeal carcinoma (NPC), we studied a total of 374 subjects (209 patients and 165 controls).", "output": {"entities": {"gene": [{"text": "TAP1", "start": 120, "end": 124}], "disease": [{"text": "nasopharyngeal carcinoma", "start": 165, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "This review summarizes the current understanding of the role of p63 in tumorigenesis, metastasis, cell migration and senescence.", "output": {"entities": {"gene": [{"text": "p63", "start": 64, "end": 67}], "disease": [{"text": "tumorigenesis", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "These data indicated that the expression of the VEGF gene enhanced by bFGF or TNF-alpha appeared to be mediated in part through the transcription factor SP-1, suggesting a different mechanism from that for hypoxia-induced activation of the VEGF gene.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 48, "end": 52}], "disease": [{"text": "hypoxia", "start": 206, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Pro-inflammatory pathways activated by interferon gamma (IFNγ) and toll-like receptor 4 (TLR4) ligands are profoundly involved in plaque formation and have been shown to involve cross-talk in all atheroma-interacting cell types leading to increased activation of signal transducer and activator of transcription-1 (STAT1) and elevated expression of pro-inflammatory mediators.", "output": {"entities": {"gene": [{"text": "interferon gamma", "start": 39, "end": 55}], "disease": [{"text": "plaque", "start": 130, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5.", "output": {"entities": {"gene": [{"text": "ZNF469", "start": 130, "end": 136}], "disease": [{"text": "connective tissue disorder", "start": 80, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZNF469", "start": 130, "end": 136}, "tail": {"text": "connective tissue disorder", "start": 80, "end": 106}}]}}, "schema": []}
{"input": "Namely, R3HDML and C20orf39 are significantly associated with depressive symptoms of schizophrenia (P (emp) & lt; 2 & #215; 10 & #8315; & #8309;) based on the minimum P-value and truncated-product methods, respectively.", "output": {"entities": {"gene": [{"text": "C20orf39", "start": 19, "end": 27}], "disease": [{"text": "depressive symptoms", "start": 62, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C20orf39", "start": 19, "end": 27}, "tail": {"text": "depressive symptoms", "start": 62, "end": 81}}]}}, "schema": []}
{"input": "This agent also suppressed the increase of VEGF secretion and expression induced by hypoxia (1% O (2)).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 43, "end": 47}], "disease": [{"text": "hypoxia", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Transcription factor AP-2 beta (TFAP2B) mutations are associated with the Char syndrome, a disorder associated with PDA, and with facial and fingers abnormalities.", "output": {"entities": {"gene": [{"text": "TFAP2B", "start": 32, "end": 38}], "disease": [{"text": "abnormalities", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The canonical functional of Bcl-2 in terms of apoptosis inhibition is its ability to prevent mitochondrial permeabilization via inhibiting the translocation and oligomerization of pro-apoptotic proteins such as Bax; however, more recent evidence points to a novel mechanism of the anti-apoptotic activity of Bcl-2.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 28, "end": 33}], "disease": [{"text": "translocation", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "CX-4945, a potent and selective CK2 inhibitor, induced autophagy in PC-9/GR and PC-9/ER, and which was supported by the induction of autophagic vacuoles and microtubule-associated protein 1 light chain 3 (LC3) expression, and the increase of punctate fluorescent signals in resistant cells pre-transfected with green fluorescent protein (GFP)-tagged LC3.", "output": {"entities": {"gene": [{"text": "LC3", "start": 205, "end": 208}], "disease": [{"text": "autophagic vacuoles", "start": 133, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 25, "end": 30}], "disease": [{"text": "Wilson disease", "start": 92, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 25, "end": 30}, "tail": {"text": "Wilson disease", "start": 92, "end": 106}}]}}, "schema": []}
{"input": "An increase in symptoms of depressed mood and a fall in heart rate occurred only in those who displayed increased CRP with nicotine abstinence (p < 0. 05), while systolic blood pressure fell only in those whose CRP levels decreased with abstinence (p < 0. 05).", "output": {"entities": {"gene": [{"text": "CRP", "start": 114, "end": 117}], "disease": [{"text": "fall", "start": 48, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, JMJD1A gene silencing abrogated the hypoxia-induced ADM expression and inhibited HepG2 and Hep3B cell growth.", "output": {"entities": {"gene": [{"text": "ADM", "start": 65, "end": 68}], "disease": [{"text": "hypoxia", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The molecular chaperone hsp90alpha is secreted from invasive cancer cells and activates MMP-2 to enhance invasiveness, required for the first step in metastasis.", "output": {"entities": {"gene": [{"text": "hsp90alpha", "start": 24, "end": 34}], "disease": [{"text": "invasive cancer", "start": 52, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Heterozygosity for a dysfunctional IGF1 mutation leads to a mild effect on birth weight, adult height and head circumference.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 35, "end": 39}], "disease": [{"text": "birth weight", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We screened FUS in a cohort of 200 ALS patients [32 FALS and 168 sporadic ALS (SALS)].", "output": {"entities": {"gene": [{"text": "FUS", "start": 12, "end": 15}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Our findings provide a molecular linkage between the LKB1-AMPK and the RAF-MEK-ERK pathways and suggest that suppression of LKB1 function by B-RAF V600E plays an important role in B-RAF V600E-driven tumorigenesis.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 53, "end": 57}], "disease": [{"text": "tumorigenesis", "start": 199, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Recent findings have suggested that higher rates of chronic kidney disease (CKD) in individuals with recent African ancestry might be attributed to two risk alleles (G1 and G2) at the serum-resistance-associated (SRA)-interacting-domain-encoding region of APOL1.", "output": {"entities": {"gene": [{"text": "SRA", "start": 213, "end": 216}], "disease": [{"text": "chronic kidney disease", "start": 52, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In contrast with previously reported data, patients positive and negative for HOX11L2/t (5; 14) were comparable with regard to clinical outcome as well as to the response to a 7-day prephase treatment or to residual disease at completion of induction therapy.", "output": {"entities": {"gene": [{"text": "HOX11L2", "start": 78, "end": 85}], "disease": [{"text": "residual disease", "start": 207, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "We tested the association between a biallelic single-nucleotide polymorphism in the 3' untranslated region (UTR) of IL-12B and human susceptibility to tuberculosis (TB), in a population-based case-control study of adult patients with TB from 2 ethnicities, African American and white, and in a family-based transmission/disequilibrium study of 60 informative families with at least 1 pediatric patient with TB and 1 heterozygous parent.", "output": {"entities": {"gene": [{"text": "UTR", "start": 108, "end": 111}], "disease": [{"text": "susceptibility to tuberculosis", "start": 133, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer-Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel.", "output": {"entities": {"gene": [{"text": "IFT140", "start": 33, "end": 39}], "disease": [{"text": "Mainzer-Saldino syndrome", "start": 125, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT140", "start": 33, "end": 39}, "tail": {"text": "Mainzer-Saldino syndrome", "start": 125, "end": 149}}]}}, "schema": []}
{"input": "Transcripts for ClC-2 thru ClC-7 were detected in a human glioma cell line by PCR, whereas only ClC-2, ClC-3, and ClC-5 protein could be identified by Western blot.", "output": {"entities": {"gene": [{"text": "ClC-5", "start": 114, "end": 119}], "disease": [{"text": "glioma", "start": 58, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ClC-5", "start": 114, "end": 119}, "tail": {"text": "glioma", "start": 58, "end": 64}}]}}, "schema": []}
{"input": "We induced HLJ1 overexpression or knockdown in human lung adenocarcinoma CL1-5 cells and analyzed cell proliferation, anchorage-independent growth, in vivo tumorigenesis, cell motility, invasion, and cell cycle progression.", "output": {"entities": {"gene": [{"text": "HLJ1", "start": 11, "end": 15}], "disease": [{"text": "tumorigenesis", "start": 156, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Here we characterize novel dominant negative mutations in COL2A1 that result in Stickler syndrome.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 58, "end": 64}], "disease": [{"text": "Stickler syndrome", "start": 80, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 58, "end": 64}, "tail": {"text": "Stickler syndrome", "start": 80, "end": 97}}]}}, "schema": []}
{"input": "All familial and 53% to 84% of sporadic cases with diffuse or A > P SBH harbor a mutation of the DCX gene, leaving the genetic causes unexplained, and genetic counseling problematic, in the remaining patients.", "output": {"entities": {"gene": [{"text": "DCX gene", "start": 97, "end": 105}], "disease": [{"text": "sporadic", "start": 31, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis that spontaneous release of vasoactive intestinal peptide (VIP) from enteric neurons maintains homeostasis in smooth muscle function in mild inflammatory insults and that infusion of exogenous VIP has therapeutic effects on colonic smooth muscle dysfunction in inflammation.", "output": {"entities": {"gene": [{"text": "VIP", "start": 84, "end": 87}], "disease": [{"text": "mild", "start": 161, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "MDA-7/IL-24 reduced MCL-1 and BCL-XL and increased BAX levels via PERK signaling; cell-killing was mediated via the intrinsic pathway, and cell killing was primarily necrotic as judged using Annexin V/propidium iodide staining.", "output": {"entities": {"gene": [{"text": "PERK", "start": 66, "end": 70}], "disease": [{"text": "necrotic", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The dopamine receptor D2 (DRD2) gene has polymorphisms that have been linked to regulation of the dopamine system and to an increased prevalence of smoking.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 26, "end": 30}], "disease": [{"text": "smoking", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population.", "output": {"entities": {"gene": [{"text": "UBE2L3", "start": 53, "end": 59}], "disease": [{"text": "systemic lupus erythematosus", "start": 87, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBE2L3", "start": 53, "end": 59}, "tail": {"text": "systemic lupus erythematosus", "start": 87, "end": 115}}]}}, "schema": []}
{"input": "Taken together, these in vitro and in vivo characterisations of the tachykinin NK (3) receptor antagonists GSK172981 and GSK256471 support their potential utility in the treatment of schizophrenia.", "output": {"entities": {"gene": [{"text": "NK (3) receptor", "start": 79, "end": 94}], "disease": [{"text": "schizophrenia", "start": 183, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NK (3) receptor", "start": 79, "end": 94}, "tail": {"text": "schizophrenia", "start": 183, "end": 196}}]}}, "schema": []}
{"input": "The data show that LMP2 and LMP7 gene polymorphism is not a risk factor of acute coronary syndrome in Ukrainian population.", "output": {"entities": {"gene": [{"text": "LMP2", "start": 19, "end": 23}], "disease": [{"text": "acute coronary syndrome", "start": 75, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Levels of free fatty acids (FFA) are associated with insulin resistance but do not explain the relationship between adiposity and insulin resistance in Hispanic Americans: the IRAS Family Study.", "output": {"entities": {"gene": [{"text": "IRAS", "start": 176, "end": 180}], "disease": [{"text": "insulin resistance", "start": 53, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Male subjects with the T0 genotype showed greater dermal erythema following topical application of methylnicotinate, suggesting that this polymorphism may be in linkage disequilibrium with a functional polymorphism of the FACL4 gene that modulates re-sequestration of agonist-released free AA.", "output": {"entities": {"gene": [{"text": "FACL4", "start": 222, "end": 227}], "disease": [{"text": "erythema", "start": 57, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FACL4", "start": 222, "end": 227}, "tail": {"text": "erythema", "start": 57, "end": 65}}]}}, "schema": []}
{"input": "Our data suggest an important role of DAPK1 for silencing through promoter CpG island hypermethylation in the development of brain metastases from solid tumors.", "output": {"entities": {"gene": [{"text": "DAPK1", "start": 38, "end": 43}], "disease": [{"text": "metastases", "start": 131, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DAPK1", "start": 38, "end": 43}, "tail": {"text": "metastases", "start": 131, "end": 141}}]}}, "schema": []}
{"input": "These MSCs also induced aortic ring sprouting, characteristic of neovascular formation from pre-existing vessels, and additionally promoted neovascularization at the MSC transplantation site in a mouse model.", "output": {"entities": {"gene": [{"text": "MSC", "start": 6, "end": 9}], "disease": [{"text": "neovascularization", "start": 140, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Constitutive STC2 expression in human breast cancer cell lines resulted in significant impairment of cell growth, migration and cell viability after serum withdrawal.", "output": {"entities": {"gene": [{"text": "STC2", "start": 13, "end": 17}], "disease": [{"text": "breast cancer", "start": 38, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STC2", "start": 13, "end": 17}, "tail": {"text": "breast cancer", "start": 38, "end": 51}}]}}, "schema": []}
{"input": "Expression of EXO1 module was found as indicative of elevated cell proliferation, genomic instability, activated RAS/AKT/MYC/E2F1 signaling pathways and loss of p53 activity in breast tumors.", "output": {"entities": {"gene": [{"text": "AKT", "start": 117, "end": 120}], "disease": [{"text": "genomic instability", "start": 82, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Elevation of breast SAMP lyase concurred with macroscopic presence of dimethylbenzanthracene involved breast tumors with elevation of LSA occurring 12 weeks later.", "output": {"entities": {"gene": [{"text": "SAMP", "start": 20, "end": 24}], "disease": [{"text": "breast tumors", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In this study, patients with HFE gene mutations on HD for established renal failure do not require less iron supplementation to achieve recommended Hb targets.", "output": {"entities": {"gene": [{"text": "HFE gene", "start": 29, "end": 37}], "disease": [{"text": "renal failure", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Transactivation-responsive DNA-binding protein 43 (TDP-43) is a component of pathological inclusions in amyotrophic lateral sclerosis and several forms of sporadic and familial frontotemporal lobar degeneration.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 27, "end": 46}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 104, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "A pharmacological inhibitor of p110 & #947; (encoded by PIK3CG) impaired cell proliferation in medulloblastoma cell lines and sensitized the cells to cisplatin treatment.", "output": {"entities": {"gene": [{"text": "PIK3CG", "start": 56, "end": 62}], "disease": [{"text": "medulloblastoma", "start": 95, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PIK3CG", "start": 56, "end": 62}, "tail": {"text": "medulloblastoma", "start": 95, "end": 110}}]}}, "schema": []}
{"input": "Molecular evolutionary studies have reported that SNPs in/near the uncoupling protein 3 gene (UCP3) and the regulatory associated protein of mTOR complex 1 gene (RPTOR) might influence NST and confer adaptive advantages for modern human dispersal into cold environments.", "output": {"entities": {"gene": [{"text": "UCP3", "start": 94, "end": 98}], "disease": [{"text": "cold", "start": 252, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "The histology showed generalized arterial calcification and the molecular analysis identified mutations in ABCC6.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 107, "end": 112}], "disease": [{"text": "generalized arterial calcification", "start": 21, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "As noted in a previous report, MUC1-CT was recruited to genomic regions upstream of the connective tissue growth factor (CTGF) accompanied with β-catenin and p53, resulting in the hypoxic induction of CTGF.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 31, "end": 35}], "disease": [{"text": "hypoxic", "start": 180, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia-mediated down-regulation was specific for FLT3, reversible and proteasome-dependent; with FLT3 half-life being significantly shorter at hypoxia.", "output": {"entities": {"gene": [{"text": "FLT3", "start": 50, "end": 54}], "disease": [{"text": "hypoxia", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The A375/TSP2 showed significantly decreased liver metastatic potential (liver weight: 3. 88 +/-0. 30 g in A375/TSP2, 7. 07 +/-0. 67 g in vector-transfectant (A375/V), p < 0. 01, Mann-Whitney U test) in super immuno-deficient mice (NOD/SCID/gammacnull, NOG).", "output": {"entities": {"gene": [{"text": "TSP2", "start": 9, "end": 13}], "disease": [{"text": "weight", "start": 79, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the aim of the present study was to characterize the activation status of freshly isolated tumor infiltrating lymphocytes (TIL) from prostate carcinomas (PCa) and benign hyperplasia (BPH) with respect to the mRNA expression of cytokines and apoptotic factors.", "output": {"entities": {"gene": [{"text": "TIL", "start": 134, "end": 137}], "disease": [{"text": "hyperplasia", "start": 181, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "They also suggest that heparanase may play a novel role for COX-2 mediated tumor angiogenesis in breast-cancer progression.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 23, "end": 33}], "disease": [{"text": "breast-cancer", "start": 97, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "heparanase", "start": 23, "end": 33}, "tail": {"text": "breast-cancer", "start": 97, "end": 110}}]}}, "schema": []}
{"input": "The karyotype of this case indicates that SEF is unrelated to extraskeletal myxoid chondrosarcoma, clear cell sarcoma, and synovial sarcoma.", "output": {"entities": {"gene": [{"text": "SEF", "start": 42, "end": 45}], "disease": [{"text": "chondrosarcoma, clear cell", "start": 83, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, GSTs, EPHX1, and XPD are potential genetic factors for arsenic-induced skin cancers.", "output": {"entities": {"gene": [{"text": "EPHX1", "start": 21, "end": 26}], "disease": [{"text": "skin cancers", "start": 86, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EPHX1", "start": 21, "end": 26}, "tail": {"text": "skin cancers", "start": 86, "end": 98}}]}}, "schema": []}
{"input": "In the present study, we assessed the expression of transcription factors (NeuroD and mASH1) essential for the normal fetal neuronal development in 33 gastroenteropancreatic neuroendocrine tumor patients (12 well-differentiated neuroendocrine tumors, 7 well-differentiated neuroendocrine carcinomas, and 14 poorly differentiated neuroendocrine carcinomas).", "output": {"entities": {"gene": [{"text": "NeuroD", "start": 75, "end": 81}], "disease": [{"text": "gastroenteropancreatic neuroendocrine tumor", "start": 151, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Painful hypersensitivity to norepinephrine (NE) has been reported in various chronic pain conditions that exhibit sympathetically-maintained pain (SMP), particularly CRPS-I and II.", "output": {"entities": {"gene": [{"text": "SMP", "start": 147, "end": 150}], "disease": [{"text": "pain", "start": 85, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In wild-type VHL cells, whereas VEGF-A was significantly up-regulated under hypoxic compared with normoxic conditions (P < 0. 001), expression of VEGF-C was reduced (P < 0. 002).", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 32, "end": 38}], "disease": [{"text": "hypoxic", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Inactivation of mouse Tlr4 causes an asymptomatic carrier state resembling asymptomatic bacteriuria (ABU).", "output": {"entities": {"gene": [{"text": "Tlr4", "start": 22, "end": 26}], "disease": [{"text": "asymptomatic", "start": 37, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The-449G polymorphism in the DDAH2 gene was associated with both low plasma ADMA and an increased likelihood of presenting with \" cold \" shock in pediatric sepsis, but not with vasopressor requirement.", "output": {"entities": {"gene": [{"text": "DDAH2 gene", "start": 29, "end": 39}], "disease": [{"text": "shock", "start": 137, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "This results in multiple peroxisomal abnormalities which includes a deficiency of acyl-CoA: dihydroxyacetonephosphate acyltransferase (DHAPAT), alkyl-dihydroxyacetonephosphate synthase (alkyl-DHAP synthase), peroxisomal 3-ketoacyl-CoA thiolase and phytanoyl-CoA hydroxylase, although there are differences in the extent of the deficiencies observed.", "output": {"entities": {"gene": [{"text": "alkyl-DHAP synthase", "start": 186, "end": 205}], "disease": [{"text": "abnormalities", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Intravenous CGRP triggers migraine-like attacks in patients with migraine with aura and without aura.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 12, "end": 16}], "disease": [{"text": "aura", "start": 79, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Human platelet antigen (HPA) systems are involved in alloimmunization, organ transplantation rejection and the development of cardiovascular disease.", "output": {"entities": {"gene": [{"text": "HPA", "start": 24, "end": 27}], "disease": [{"text": "transplantation rejection", "start": 77, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The study was underpowered to detect expected associations between percent density and breast cancer, but women with absolute MRI dense volume in the upper half of the distribution had double the risk of those in the lower half (P = 0. 009).", "output": {"entities": {"gene": [{"text": "MRI", "start": 126, "end": 129}], "disease": [{"text": "breast cancer", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Additionally, we found that PDHA1 and the PDC activator pyruvate dehydrogenase phosphatase 1 (PDP1) are frequently amplified and overexpressed at both the gene and protein levels in prostate tumors.", "output": {"entities": {"gene": [{"text": "PDHA1", "start": 28, "end": 33}], "disease": [{"text": "prostate tumors", "start": 182, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDHA1", "start": 28, "end": 33}, "tail": {"text": "prostate tumors", "start": 182, "end": 197}}]}}, "schema": []}
{"input": "Bone marrow (BM)-derived EPCs were exposed to hypoxia to mimic the atherosclerotic environment and miR-26a, EphA2 and p38 MAPK levels were measured by qRT-PCR and western blotting, and VEGF levels were determined by enzyme linked immunosorbent assay.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 185, "end": 189}], "disease": [{"text": "hypoxia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "These finding reveals Smad5 as a potential target for the therapeutic of type 2 diabetes.", "output": {"entities": {"gene": [{"text": "Smad5", "start": 22, "end": 27}], "disease": [{"text": "type 2 diabetes", "start": 73, "end": 88}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Smad5", "start": 22, "end": 27}, "tail": {"text": "type 2 diabetes", "start": 73, "end": 88}}]}}, "schema": []}
{"input": "Diabetic gastroparesis is associated with increased oxidative stress attributable to loss of upregulation of heme oxygenase-1 (HO1), with resultant damage to interstitial cells of Cajal and delayed gastric emptying.", "output": {"entities": {"gene": [{"text": "heme oxygenase-1", "start": 109, "end": 125}], "disease": [{"text": "delayed gastric emptying", "start": 190, "end": 214}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "heme oxygenase-1", "start": 109, "end": 125}, "tail": {"text": "delayed gastric emptying", "start": 190, "end": 214}}]}}, "schema": []}
{"input": "Small ubiquitin-like modifier 4 (SUMO4) has been identified as a candidate gene for the IDDM5 locus and suggested to have possible involvement in immune responses, such as autoimmunity and inflammation.", "output": {"entities": {"gene": [{"text": "SUMO4", "start": 33, "end": 38}], "disease": [{"text": "inflammation", "start": 189, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Here, we report three individuals from two unrelated families with radiological features similar to PPRD and SED, Stanescu type who share the same novel COL2A1 variant and were matched following discussion at an academic conference.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 153, "end": 159}], "disease": [{"text": "SED, Stanescu type", "start": 109, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 153, "end": 159}, "tail": {"text": "SED, Stanescu type", "start": 109, "end": 127}}]}}, "schema": []}
{"input": "GGA was found to significantly protect rats from ethanol-induced gastric damage by increasing mucus levels, MUC5AC and MUC6, especially at ethanol-induced ulcer margins, but not by MUC1.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 181, "end": 185}], "disease": [{"text": "ulcer", "start": 155, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Using survival tree and regression methodologies, we show that CEBPA (DM), CD34, and IDH2 mutations are capable of separating the intermediate group into 2 AML subgroups with highly distinctive survival characteristics (OS at 60 months: 51. 9% vs 14. 9%).", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 63, "end": 68}], "disease": [{"text": "regression", "start": 24, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The human synovial sarcoma-specific translocation t (X; 18) results in the fusion of the SYT gene on chromosome 18 with either one of the Krüppel-associated box (KRAB) containing SSX1 or SSX2 genes on the X chromosome, depending on the exact location of the breakpoint within band Xp11. 2.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 187, "end": 191}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "There was no relationship of limbal stem cell failure with the severity of EEC syndrome, as classified by the EEC score, or the underlying molecular defect in p63.", "output": {"entities": {"gene": [{"text": "p63", "start": 159, "end": 162}], "disease": [{"text": "EEC syndrome", "start": 75, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p63", "start": 159, "end": 162}, "tail": {"text": "EEC syndrome", "start": 75, "end": 87}}]}}, "schema": []}
{"input": "MSP and BGS analysis showed that the GATA4 gene promoter is hypermethylated in AML cells, such as the HL-60 and MV4-11 human myeloid leukemia cell lines.", "output": {"entities": {"gene": [{"text": "GATA4 gene", "start": 37, "end": 47}], "disease": [{"text": "myeloid leukemia", "start": 125, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "To evaluate differences in fluorescein angiography (FA) and indocyanine green angiography (ICGA), findings between subjects affected by Stargardt disease (STGD) and atrophic AMD.", "output": {"entities": {"gene": [{"text": "Stargardt disease", "start": 136, "end": 153}], "disease": [{"text": "atrophic", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We previously identified a novel genomic instability phenotype of multiple reciprocal chromosomal translocations in a MLH1-defective, microsatellite unstable (MSI) colon cancer cell line (HCA7) and, further, showed that it was unlikely to be directly caused by the mismatch repair (MMR) defect in this cell line.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 118, "end": 122}], "disease": [{"text": "genomic instability", "start": 33, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Neonates with intractable diarrhea underwent immunologic assessments including immunoglobulin levels, lymphocyte subsets, lymphocyte proliferation, superoxide production, and IL-10 signaling function.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 175, "end": 180}], "disease": [{"text": "intractable diarrhea", "start": 14, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We identified protein kinase C epsilon (PKCε encoded by the PRKCE gene) as a novel direct target of miR-31 and show that down-regulation of PKCε results in impaired NF-κB signaling, enhanced apoptosis, and increased sensitivity of MCF10A breast epithelial and MDA-MB-231 triple-negative breast cancer cells toward ionizing radiation as well as treatment with chemotherapeutics.", "output": {"entities": {"gene": [{"text": "PRKCE gene", "start": 60, "end": 70}], "disease": [{"text": "triple-negative breast cancer", "start": 271, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "\" Double-hit \" (DH) lymphomas are B-cell neoplasms characterized by a translocation involving MYC and either BCL2 or BCL6 In the indexed literature, there are no reported cases of PMLBCL associated with DH or triple-hit events.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 109, "end": 113}], "disease": [{"text": "translocation", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The present study was designed to investigate the putative protective effects of CCK and leptin on acute colonic inflammation.", "output": {"entities": {"gene": [{"text": "CCK", "start": 81, "end": 84}], "disease": [{"text": "inflammation", "start": 113, "end": 125}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CCK", "start": 81, "end": 84}, "tail": {"text": "inflammation", "start": 113, "end": 125}}]}}, "schema": []}
{"input": "The endogenous natriuretic peptide/NPR-A system may inhibit renal fibrosis partly via inhibition of the angiotensin/AP-1/TGF-beta/collagen pathway and exogenous ANP pre-treatment may inhibit it partly via both the angiotensin/AP-1/TGF-beta/collagen and NF-kappaB/inflammatory pathways.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 116, "end": 120}], "disease": [{"text": "renal fibrosis", "start": 60, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "This paper reports the effects on grooming, related behaviors and levels of anxiety induced by the hypophysiotropic peptides corticotropin-releasing hormone (CRH, 1 microgram, 0. 2 nmol, icv), thyrotropin-releasing hormone (TRH, 100 micrograms, 275 nmol, icv) and luteinizing hormone-releasing hormone (LHRH, 1. 5 micrograms, 1. 3 nmol, icv) administered into the lateral ventricle of the brain (icv) of adult male rats of a Holtzman-derived colony (N = 15, each group).", "output": {"entities": {"gene": [{"text": "corticotropin-releasing hormone", "start": 125, "end": 156}], "disease": [{"text": "anxiety", "start": 76, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "corticotropin-releasing hormone", "start": 125, "end": 156}, "tail": {"text": "anxiety", "start": 76, "end": 83}}]}}, "schema": []}
{"input": "There is evidence that indicates the involvement of environmental and genetic factors in the pathogenesis of post-stroke dementia (PSD).", "output": {"entities": {"gene": [{"text": "PSD", "start": 131, "end": 134}], "disease": [{"text": "stroke", "start": 114, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The group ranges from the mildest recessive form of multiple epiphyseal dysplasia (r-MED) through the most common DTD to perinatally lethal atelosteogenesis type II and achondrogenesis 1B.", "output": {"entities": {"gene": [{"text": "MED", "start": 85, "end": 88}], "disease": [{"text": "achondrogenesis", "start": 169, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "A bcl-2-associated translocation was also detected in one case.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 2, "end": 7}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Administration of warfarin, which inactivates Gas6, inhibited mesangial and glomerular hypertrophy and the increase in albuminuria in STZ-rats.", "output": {"entities": {"gene": [{"text": "STZ", "start": 134, "end": 137}], "disease": [{"text": "albuminuria", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "A subset of childhood and young adult renal cell carcinomas displays a recurrent translocation t (X; 17) (p11; q25) as the sole cytogenetic abnormality.", "output": {"entities": {"gene": [{"text": "p11", "start": 106, "end": 109}], "disease": [{"text": "cytogenetic abnormality", "start": 128, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We report the IGH-MALT1 translocation in a cutaneous DLBCL as shown by classical cytogenetics and molecular cytogenetic analysis.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 18, "end": 23}], "disease": [{"text": "translocation", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In total, 175 neuroblastoma samples with known MYCN status, as determined by FISH and/or SB, were examined.", "output": {"entities": {"gene": [{"text": "FISH", "start": 77, "end": 81}], "disease": [{"text": "neuroblastoma", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "A novel type of pituitary-specific transcription factor, Prophet of Pit-1 (Prop-1) gene (PROP1), expresses in just early embryonic stage in mouse and closely related as a causative gene in combined pituitary hormone deficiency.", "output": {"entities": {"gene": [{"text": "PROP1", "start": 89, "end": 94}], "disease": [{"text": "pituitary hormone deficiency", "start": 198, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Our findings add a new aspect to the mosaic of the p53 mutability in B-CLL.", "output": {"entities": {"gene": [{"text": "p53", "start": 51, "end": 54}], "disease": [{"text": "B-CLL", "start": 69, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p53", "start": 51, "end": 54}, "tail": {"text": "B-CLL", "start": 69, "end": 74}}]}}, "schema": []}
{"input": "18F-FDG kinetics were evaluated by use of compartment and noncompartment models of giant cell tumors.", "output": {"entities": {"gene": [{"text": "FDG", "start": 4, "end": 7}], "disease": [{"text": "giant cell tumors", "start": 83, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Mice deficient for Cav1 or the nuclear bile acid receptor farnesoid X receptor showed hyperplasia and hyperkeratosis of the basal cell layer of esophageal epithelia, respectively.", "output": {"entities": {"gene": [{"text": "farnesoid X receptor", "start": 58, "end": 78}], "disease": [{"text": "esophageal", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Thus, our observations suggest that AML1-ETO and its splice variant AML1-ETO9a are able to regulate the expression of the CD44 gene, linking the 8; 21 translocation to the regulation of a cell adhesion molecule that is involved in the growth and maintenance of the AML blast/stem cells.", "output": {"entities": {"gene": [{"text": "AML1", "start": 36, "end": 40}], "disease": [{"text": "translocation", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Kaplan-Meier analysis indicated that SERCA3 expression was positively associated with favorable prognosis of the patients with gastric carcinoma (P > 0. 05).", "output": {"entities": {"gene": [{"text": "SERCA3", "start": 37, "end": 43}], "disease": [{"text": "gastric carcinoma", "start": 127, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In patients with-55CC UCP3 genotype, a high mono-unsaturated hypocaloric diet reduced BMI, weight, waist circumference, waist to hip ratio, fat mass, LDL-cholesterol, total cholesterol and leptin levels.", "output": {"entities": {"gene": [{"text": "UCP3", "start": 22, "end": 26}], "disease": [{"text": "waist to hip ratio", "start": 120, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "More than 80% of the patients with follicular lymphoma have a characteristic chromosomal translocation, t (14; 18) (q32; q21), at the major breakpoint region (MBR) or minor cluster region (MCR) involving the bcl-2 oncogene.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 208, "end": 213}], "disease": [{"text": "chromosomal translocation", "start": 77, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The role of ERK and JNK signaling in connective tissue growth factor induced extracellular matrix protein production and scar formation.", "output": {"entities": {"gene": [{"text": "JNK", "start": 20, "end": 23}], "disease": [{"text": "scar", "start": 121, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "When we screened for deletions on the Yq of males suffering from infertility, we found that HSFY was involved in interstitial deletions on the Y chromosomes for two azoospermic males who had DBY, USP9Y, and DAZ but did not have RBMY located on the AZFb.", "output": {"entities": {"gene": [{"text": "DBY", "start": 191, "end": 194}], "disease": [{"text": "infertility", "start": 65, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "ecent epidemiological studies in Swedish school age children revealed a prevalence of severe mental retardation (SMR = IQ less than 50) of 0. 3% and of mild mental retardation (MMR = IQ 50-70) around 0. 4%.", "output": {"entities": {"gene": [{"text": "SMR", "start": 113, "end": 116}], "disease": [{"text": "severe mental retardation", "start": 86, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Multiple mis-sense variants were identified in patients with ocular and/or skeletal (Klippel-Feil) anomalies including one individual with heterozygous alterations in GDF3 and GDF6.", "output": {"entities": {"gene": [{"text": "GDF3", "start": 167, "end": 171}], "disease": [{"text": "Klippel-Feil", "start": 85, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GDF3", "start": 167, "end": 171}, "tail": {"text": "Klippel-Feil", "start": 85, "end": 97}}]}}, "schema": []}
{"input": "Exogenous expression of VCX-A in rat primary hippocampal neurons, which normally do not express the primate-restricted VCX proteins, promoted neurite arborization, and shRNA-directed knockdown of the VCX genes in SH-SY5Y cells resulted in a reduction of both primary and secondary neurite projections upon differentiation.", "output": {"entities": {"gene": [{"text": "VCX", "start": 24, "end": 27}], "disease": [{"text": "secondary", "start": 271, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "We studied the clinicopathological features in 72 cases of epithelioid sarcoma and in six cases of malignant rhabdoid tumor, and also assessed the immunohistochemical expression of dysadherin, E-cadherin and MIB-1 in epithelioid sarcoma and malignant rhabdoid tumor cases.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 193, "end": 203}], "disease": [{"text": "epithelioid sarcoma", "start": 59, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "This observation strongly supports the hypothesis that RAB7 mutations are responsible for CMT2B.", "output": {"entities": {"gene": [{"text": "RAB7", "start": 55, "end": 59}], "disease": [{"text": "CMT2B", "start": 90, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAB7", "start": 55, "end": 59}, "tail": {"text": "CMT2B", "start": 90, "end": 95}}]}}, "schema": []}
{"input": "These findings indicate that CD96 mutations may cause a form of the C syndrome by interfering with cell adhesion and growth.", "output": {"entities": {"gene": [{"text": "CD96", "start": 29, "end": 33}], "disease": [{"text": "C syndrome", "start": 68, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD96", "start": 29, "end": 33}, "tail": {"text": "C syndrome", "start": 68, "end": 78}}]}}, "schema": []}
{"input": "GATA4 and NKX2. 5 genes were screened in cardiac tissue of sporadic and in blood samples of familial cases.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 10, "end": 17}], "disease": [{"text": "sporadic", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Therefore, cardiac overexpression of RALT improves cardiac function and inhibits maladaptive hypertrophy, inflammation, and fibrosis through attenuating epidermal growth factor receptor-dependent signaling.", "output": {"entities": {"gene": [{"text": "RALT", "start": 37, "end": 41}], "disease": [{"text": "hypertrophy", "start": 93, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Animal studies have illustrated the importance of the expression in adipose tissue of the leptin receptor (OB-R), and of SOCS3 an inhibitor of the leptin signaling pathway, in body weight regulation.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 121, "end": 126}], "disease": [{"text": "body weight", "start": 176, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Three hundred sixty-four Mexican Mestizo Mexico City residents from 87 families with at least one smoker were assessed for association of 12 gene variants of six candidate genes (CHRNA4, CHRNB2, DRD2, ANKK1, SLC6A3, and CYP2A6) with cigarette consumption, age of initiation and smoking duration.", "output": {"entities": {"gene": [{"text": "ANKK1", "start": 201, "end": 206}], "disease": [{"text": "smoking", "start": 278, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of p185 (her2/neu)/ErbB3 signaling in pituitary tumor function, we examined these receptors in human prolactinomas.", "output": {"entities": {"gene": [{"text": "her2/neu", "start": 33, "end": 41}], "disease": [{"text": "pituitary tumor", "start": 62, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "This review finds evidence that AHR and smoking are common risk factors for asthma and COPD.", "output": {"entities": {"gene": [{"text": "AHR", "start": 32, "end": 35}], "disease": [{"text": "smoking", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that spinal segmentation can occur normally in the absence of filamin B, but the protein is required for maintenance of intervertebral, carpal and sternal joints, and the joint fusion process commences antenatally.", "output": {"entities": {"gene": [{"text": "filamin B", "start": 85, "end": 94}], "disease": [{"text": "joint fusion", "start": 194, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Effect of folylpolyglutamate synthase A22G polymorphism on the risk and survival of patients with acute lymphoblastic leukemia.", "output": {"entities": {"gene": [{"text": "folylpolyglutamate synthase", "start": 10, "end": 37}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 98, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "folylpolyglutamate synthase", "start": 10, "end": 37}, "tail": {"text": "acute lymphoblastic leukemia", "start": 98, "end": 126}}]}}, "schema": []}
{"input": "Role of tumor necrosis factor receptor 2 (TNFR2) in colonic epithelial hyperplasia and chronic intestinal inflammation in mice.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 42, "end": 47}], "disease": [{"text": "inflammation", "start": 106, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The patient had hypercalcaemia associated with increased calcitriol serum levels; circulating interleukin-6 and tumour necrosis factor alpha levels were also elevated.", "output": {"entities": {"gene": [{"text": "tumour necrosis factor alpha", "start": 112, "end": 140}], "disease": [{"text": "hypercalcaemia", "start": 16, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumour necrosis factor alpha", "start": 112, "end": 140}, "tail": {"text": "hypercalcaemia", "start": 16, "end": 30}}]}}, "schema": []}
{"input": "In this review, we aim to compare the role of several key DNA or histone modifying enzymes and complexes in normal development and hematopoietic malignancies, including DNMT3A, TET2, IDH1, IDH2, MLL1, MLL4, DOT1L, PRC1/2 and WSHC1/NSD2/MMSET.", "output": {"entities": {"gene": [{"text": "PRC1", "start": 214, "end": 218}], "disease": [{"text": "hematopoietic malignancies", "start": 131, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "However, in the present study, we investigated the therapeutic effects of hepatocyte growth factor modified hucMSCs (HGF-hucMSCs) in ischemia/reperfusion-induced AKI rat models.", "output": {"entities": {"gene": [{"text": "HGF", "start": 117, "end": 120}], "disease": [{"text": "ischemia", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Kaplan-Meier and log-rank tests revealed that loss or weak positivity of GR significantly or marginally correlated with recurrence of NMI tumors (P =. 025), progression of MI tumors (P =. 082), and cancer-specific survival of MI tumors (P =. 067).", "output": {"entities": {"gene": [{"text": "NMI", "start": 134, "end": 137}], "disease": [{"text": "cancer", "start": 198, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Sequential staining revealed that pathologic ACE overexpression of the atherosclerotic lesions occurred in intimal smooth muscle cells, fibrocytes/fibroblasts and macrophage/foam cells.", "output": {"entities": {"gene": [{"text": "ACE", "start": 45, "end": 48}], "disease": [{"text": "foam cells", "start": 174, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "These results identify a previously undescribed KCNH2 channel isoform involved in cortical physiology, cognition and psychosis, providing a potential new therapeutic drug target.", "output": {"entities": {"gene": [{"text": "KCNH2", "start": 48, "end": 53}], "disease": [{"text": "psychosis", "start": 117, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCNH2", "start": 48, "end": 53}, "tail": {"text": "psychosis", "start": 117, "end": 126}}]}}, "schema": []}
{"input": "We studied the effects of recombinant human (rh) SF/HGF in vitro and in vivo in a rabbit model of hindlimb ischemia.", "output": {"entities": {"gene": [{"text": "HGF", "start": 52, "end": 55}], "disease": [{"text": "ischemia", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Together, the results of this study suggest that miR-141 and its targets PHLPP1 and PHLPP2 play critical roles in NSCLC tumorigenesis, and provide potential therapeutic targets for NSCLC treatment.", "output": {"entities": {"gene": [{"text": "PHLPP2", "start": 84, "end": 90}], "disease": [{"text": "tumorigenesis", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the effects of redox balance regulation on epidermal pigmentation, we used an antioxidant-rich extract of the herb Melia toosendan (dried mature fruits) to assess its effect on endothelin-1 (EDN1)-stimulated pigmentation in human epidermal equivalents and analyzed its biological mechanism of action.", "output": {"entities": {"gene": [{"text": "EDN1", "start": 204, "end": 208}], "disease": [{"text": "pigmentation", "start": 66, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Diabetes-induced renal oxidative damage, inflammation and up-regulated expression of profibrosis mediator connective tissue growth factor (CTGF) were also markedly attenuated by Zn supplementation, along with significant increases in Zn levels concomitant with MT expression in renal tubular cells.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 139, "end": 143}], "disease": [{"text": "inflammation", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, marijuana users that had smoked marijuana & #8805; 20 times in their lives and stopped cannabis use at least 6 months before the study show an increase in CB2 receptor mRNA in the blood and in serum anandamide level.", "output": {"entities": {"gene": [{"text": "CB2", "start": 170, "end": 173}], "disease": [{"text": "cannabis use", "start": 102, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB2", "start": 170, "end": 173}, "tail": {"text": "cannabis use", "start": 102, "end": 114}}]}}, "schema": []}
{"input": "The less seriously affected patient was taller (145 cm) and had no atlantoaxial instability, absence of the femoral head on radiography with visible cartilage anlage on MRI, and subluxated cartilaginous femoral head.", "output": {"entities": {"gene": [{"text": "MRI", "start": 169, "end": 172}], "disease": [{"text": "atlantoaxial instability", "start": 67, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "For that, we analysed the immunohistochemical expression of MCT1, MCT4 and CD147, in a large series of gastric samples, including non-neoplastic, tumour and metastatic tissues.", "output": {"entities": {"gene": [{"text": "MCT4", "start": 66, "end": 70}], "disease": [{"text": "non-neoplastic", "start": 130, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "By analyzing lung cancer transcriptome sequencing and genomic data, we identified a novel R3HDM2-NFE2 fusion in the H1792 cell line.", "output": {"entities": {"gene": [{"text": "NFE2", "start": 97, "end": 101}], "disease": [{"text": "lung cancer", "start": 13, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The myoferlin overexpressors show no skeletal muscle abnormalities, and crossing them with a dysferlin-deficient model rescues the membrane fusion defect present in dysferlin-deficient mice in vitro.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 93, "end": 102}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "IgE-FcεRI complex dissociation was analyzed in vitro by using recombinant proteins in ELISA and surface plasmon resonance, ex vivo by using human primary basophils with flow cytometry, and in vivo by using human FcεRI α-chain transgenic mice in a functional passive cutaneous anaphylaxis test.", "output": {"entities": {"gene": [{"text": "α-chain", "start": 218, "end": 225}], "disease": [{"text": "dissociation", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "We propose that patients with apparently isolated HDL deficiency who are found to carry ABCA1 mutations may in fact belong to a category of TD patients whose phenotypic features are only partially expressed, and that a number of hidden clinical variants of TD might exist among other HDL deficiency patients who have escaped correct clinical diagnosis.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 88, "end": 93}], "disease": [{"text": "TD", "start": 140, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA1", "start": 88, "end": 93}, "tail": {"text": "TD", "start": 140, "end": 142}}]}}, "schema": []}
{"input": "When the study population was analyzed as a whole, the 3 ACE genotypes did not differ in left ventricular mass (II, 47 g/m2. 7; ID, 49 g/m2. 7; DD, 51 g/m2. 7; p = NS).", "output": {"entities": {"gene": [{"text": "ACE", "start": 57, "end": 60}], "disease": [{"text": "left ventricular mass", "start": 89, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "This finding suggests that both nonsense mutations and missense SCN2A mutations cause Dravet syndrome.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 64, "end": 69}], "disease": [{"text": "Dravet syndrome", "start": 86, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN2A", "start": 64, "end": 69}, "tail": {"text": "Dravet syndrome", "start": 86, "end": 101}}]}}, "schema": []}
{"input": "No significant differences were found in the anxiety-related personality traits among genotypes, while cooperativeness in TCI showed a significant difference among genotypes.", "output": {"entities": {"gene": [{"text": "TCI", "start": 122, "end": 125}], "disease": [{"text": "anxiety", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we aimed to clarify the expression of lumican mRNA and its protein in human cervical cancer cell lines (CaSki, ME-180 and HeLa cells) and their localization in normal and cancerous human cervical tissues.", "output": {"entities": {"gene": [{"text": "lumican", "start": 60, "end": 67}], "disease": [{"text": "cervical cancer", "start": 98, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We confirmed the effect of HIF-1α on NMBR transcription by performing an NMBR promoter-driven reporter assay and then identified a functional hypoxia-responsive element (HRE) in the human NMBR promoter region.", "output": {"entities": {"gene": [{"text": "NMBR", "start": 37, "end": 41}], "disease": [{"text": "hypoxia", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In all four human glioma lines tested, the multiplicities of infection (MOIs) for transduction of 50% of the population (ED50) were decreased with F/K20-Adv compared with F/wt-Adv: 7-fold for T98G, 14-fold for U251, 9-fold for U373, and 42-fold for U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 249, "end": 252}], "disease": [{"text": "glioma", "start": 18, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Consistent with the hypothesis that DBC1 is crucial for HFD-induced inhibition of SIRT1 and for the development of experimental liver steatosis, genetic deletion of Dbc1 in mice led to increased SIRT1 activity in several tissues, including liver.", "output": {"entities": {"gene": [{"text": "Dbc1", "start": 165, "end": 169}], "disease": [{"text": "liver steatosis", "start": 128, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that naofen expression may be upregulated by hyperglycemia, with possible correlation to apoptosis of tubular epithelial cells and thereby to diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "naofen", "start": 24, "end": 30}], "disease": [{"text": "hyperglycemia", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, these studies provide strong evidence for the potential usefulness of a suitable, stable, and long-acting form of CocE as a pharmacotherapy for cocaine abuse in humans.", "output": {"entities": {"gene": [{"text": "CocE", "start": 127, "end": 131}], "disease": [{"text": "cocaine abuse", "start": 157, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CocE", "start": 127, "end": 131}, "tail": {"text": "cocaine abuse", "start": 157, "end": 170}}]}}, "schema": []}
{"input": "The non-smoking men who reported alcohol consumption and who were homozygous for the CETP V405 allele had 16% higher plasma apoAI concentration than those who carried the I405 allele, and up to 20% higher apoAI level than smokers.", "output": {"entities": {"gene": [{"text": "CETP", "start": 85, "end": 89}], "disease": [{"text": "alcohol consumption", "start": 33, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Recombinant HRAS (E37dup) was characterized by slightly increased GTP/GDP dissociation, lower intrinsic GTPase activity and complete resistance to neurofibromin 1 GTPase-activating protein (GAP) stimulation due to dramatically reduced binding.", "output": {"entities": {"gene": [{"text": "GAP", "start": 190, "end": 193}], "disease": [{"text": "dissociation", "start": 74, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that an elevated level of AR gene expression could confer higher risk for development of diabetic eye disease.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 41, "end": 48}], "disease": [{"text": "diabetic eye disease", "start": 104, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Genotyping the GGN and CAG repeats of the AR gene, and measuring body weight, height and waist and hip circumferences.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 42, "end": 49}], "disease": [{"text": "body weight", "start": 65, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Out of 251 infertile men, 57 (22. 7%) men were with varicocele, of which 8. 77% were azoospermic, 26. 31% were severely oligozoospermic, 21. 05% were mildly oligozoospermic, and 43. 85% were oligoasthenoteratozoospermic (OAT), and 194 (77. 29%), with idiopathic infertility, of which 51% were azoospermic, 13. 40% were severely oligozoospermic, 19. 07% were mildly oligozoospermic, and 16. 4% were with OAT.", "output": {"entities": {"gene": [{"text": "OAT", "start": 221, "end": 224}], "disease": [{"text": "varicocele", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In humans, the 6Lys-81Ile haplotype of melanocortin-3 receptor (MC3R) gene has been associated with childhood obesity, higher body fat percentage, and reduced fat oxidation compared to non-carriers.", "output": {"entities": {"gene": [{"text": "MC3R", "start": 64, "end": 68}], "disease": [{"text": "body fat percentage", "start": 126, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In anaplastic meningioma, there is a sharp decrease in the number of T cells, including the numbers of CD4 + and CD8 + T cells and cells expressing PD-1 and there is also an increase in the number of FOXP3 expressing immunoregulatory (Treg) cells.", "output": {"entities": {"gene": [{"text": "PD-1", "start": 148, "end": 152}], "disease": [{"text": "anaplastic meningioma", "start": 3, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "One form of congenital muscular dystrophy, rigid spine syndrome (MIM 602771), is a rare neuromuscular disorder characterized by early rigidity of the spine and respiratory insufficiency.", "output": {"entities": {"gene": [{"text": "MIM", "start": 65, "end": 68}], "disease": [{"text": "congenital muscular dystrophy", "start": 12, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Some investigators believe CLU to be an oncogene, others-an inhibitor of tumorigenesis.", "output": {"entities": {"gene": [{"text": "CLU", "start": 27, "end": 30}], "disease": [{"text": "tumorigenesis", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, a deletion in a proline-rich repeat region (amino acids 274 to 289) of EBV commonly reported in EBV sequenced from cancer specimens was not observed in acute infectious mononucleosis (AIM) patients.", "output": {"entities": {"gene": [{"text": "AIM", "start": 199, "end": 202}], "disease": [{"text": "infectious mononucleosis", "start": 173, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Among the upregulated genes that were validated by quantitative PCR and western blotting we recognized several interferon-stimulated genes (ISGs: IFIT1, IFIT2, IFIT3, IFI6, IRF7, ISG15, HLA-DRA, HLA-DRB, TLR3 and CIITA), as well as genes involved in intercellular adhesion and matrix remodeling.", "output": {"entities": {"gene": [{"text": "IFIT3", "start": 160, "end": 165}], "disease": [{"text": "adhesion", "start": 264, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "The present results demonstrate that the disruption of Npr1 gene activates proinflammatory cytokines leading to fibrosis, hypertrophic growth, and remodeling of the kidneys of mutant mice.", "output": {"entities": {"gene": [{"text": "Npr1", "start": 55, "end": 59}], "disease": [{"text": "fibrosis", "start": 112, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Npr1", "start": 55, "end": 59}, "tail": {"text": "fibrosis", "start": 112, "end": 120}}]}}, "schema": []}
{"input": "AMH sequencing revealed no abnormalities.", "output": {"entities": {"gene": [{"text": "AMH", "start": 0, "end": 3}], "disease": [{"text": "abnormalities", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Successful versus failed adaptation to high-fat diet-induced insulin resistance: the role of IAPP-induced beta-cell endoplasmic reticulum stress.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 93, "end": 97}], "disease": [{"text": "insulin resistance", "start": 61, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Okihiro syndrome is caused by SALL4 mutations.", "output": {"entities": {"gene": [{"text": "SALL4", "start": 30, "end": 35}], "disease": [{"text": "Okihiro syndrome", "start": 0, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SALL4", "start": 30, "end": 35}, "tail": {"text": "Okihiro syndrome", "start": 0, "end": 16}}]}}, "schema": []}
{"input": "Modulation of CYP3A4 activity and induction of apoptosis, necrosis and senescence by the anti-tumour imidazoacridinone C-1311 in human hepatoma cells.", "output": {"entities": {"gene": [{"text": "CYP3A4", "start": 14, "end": 20}], "disease": [{"text": "necrosis", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The spindle assembly checkpoint (SAC) has been established as an important mechanism of driving aneuploidy, which occurs at a high frequency in the colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "SAC", "start": 33, "end": 36}], "disease": [{"text": "aneuploidy", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Filamin A mutations, all leading to a truncated protein, have been reported in three families and in sporadic patients.", "output": {"entities": {"gene": [{"text": "Filamin A", "start": 0, "end": 9}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In the catalepsy test, felbamate antagonized dopamine D2 receptor-but not D1 receptor-induced akinesia.", "output": {"entities": {"gene": [{"text": "dopamine D2 receptor", "start": 45, "end": 65}], "disease": [{"text": "catalepsy", "start": 7, "end": 16}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dopamine D2 receptor", "start": 45, "end": 65}, "tail": {"text": "catalepsy", "start": 7, "end": 16}}]}}, "schema": []}
{"input": "In vitro invasiveness of U251, U87, and SNB19 glioma cells was inhibited by fascin siRNA treatment by 52. 2%, 40. 3%, and 23. 8% respectively.", "output": {"entities": {"gene": [{"text": "U87", "start": 31, "end": 34}], "disease": [{"text": "glioma", "start": 46, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We have identified a 24-kilodalton protein that is the product of the human bcl-2 gene, implicated as an oncogene because of its presence at the site of t (14; 18) translocation breakpoints.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 76, "end": 86}], "disease": [{"text": "translocation", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.", "output": {"entities": {"gene": [{"text": "NMNAT1", "start": 13, "end": 19}], "disease": [{"text": "retinal degeneration", "start": 92, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NMNAT1", "start": 13, "end": 19}, "tail": {"text": "retinal degeneration", "start": 92, "end": 112}}]}}, "schema": []}
{"input": "Besides, we found several previously reported characters in pale ear mice, including macromelanosomes in the neural crest-derived melanocytes and increased accumulation of lipofuscin in the RPE, were absent in pearl mice.", "output": {"entities": {"gene": [{"text": "RPE", "start": 190, "end": 193}], "disease": [{"text": "pale", "start": 60, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "To date FUS mutations are responsible for 4%-6% of familial cases as well as 0. 7%-1. 8% of sporadic cases.", "output": {"entities": {"gene": [{"text": "FUS", "start": 8, "end": 11}], "disease": [{"text": "sporadic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "All 1222 CRC from the EPICOLON cohort underwent tumour MMR testing with immunohistochemistry and microsatellite instability, and those with MMR deficiency (n = 91) underwent MLH1/MSH2 germline testing.", "output": {"entities": {"gene": [{"text": "MMR", "start": 55, "end": 58}], "disease": [{"text": "microsatellite instability", "start": 97, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.", "output": {"entities": {"gene": [{"text": "MKP2", "start": 62, "end": 66}], "disease": [{"text": "depression", "start": 182, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MKP2", "start": 62, "end": 66}, "tail": {"text": "depression", "start": 182, "end": 192}}]}}, "schema": []}
{"input": "Thus, the inactivation of STAT3 resulting from the loss of gp130 may be a key event in the transition from cardiac hypertrophy to heart failure.", "output": {"entities": {"gene": [{"text": "gp130", "start": 59, "end": 64}], "disease": [{"text": "cardiac hypertrophy", "start": 107, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Costello syndrome (CS; MIM 218040) is characterized by short stature, facial dysmorphism, cardiac defects and predisposition to embryonal rhabdomyosarcoma (CS/ERMS) and other neoplasias.", "output": {"entities": {"gene": [{"text": "MIM", "start": 23, "end": 26}], "disease": [{"text": "facial dysmorphism", "start": 70, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "To pursue the pathogenesis of endometrial carcinogenesis, we investigated microsatellite instability, mutations in the PTEN, TGF beta RII, IGFIIR, and BAX genes, and LOHs on 10q in 18 putative endometrial premalignant lesions (11 endometrial atypical hyperplasias (ATHs), 2 complex hyperplasias, and 5 simple hyperplasias) as well as 8 endometrial cancers (ECs).", "output": {"entities": {"gene": [{"text": "BAX", "start": 151, "end": 154}], "disease": [{"text": "premalignant", "start": 205, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "One of the genes identified was that for neural cell adhesion molecule (NCAM, CD56), a major regulator of development, cell survival, migration, and neurite outgrowth in the nervous system.", "output": {"entities": {"gene": [{"text": "neural cell adhesion molecule", "start": 41, "end": 70}], "disease": [{"text": "nervous system", "start": 174, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "In a multivariate Cox regression model, only Rai stage, beta2-M, and sCD138 remained predictors of survival.", "output": {"entities": {"gene": [{"text": "beta2", "start": 56, "end": 61}], "disease": [{"text": "regression", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "In cell culture, d12. CALP at low multiplicity of infection (0. 001 plaque-forming unit/cell) selectively killed calponin-positive human synovial sarcoma, leiomyosarcoma, and osteosarcoma cells.", "output": {"entities": {"gene": [{"text": "d12", "start": 17, "end": 20}], "disease": [{"text": "leiomyosarcoma", "start": 155, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, restoration of Nrf2 function in transformed cells decreased reactive oxygen species and impaired in vivo tumor growth (P = 0. 001) by mechanisms that included sensitization to apoptosis, and a decreased hypoxic/angiogenic response through HIF-1α destabilization and VEGFA repression.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 279, "end": 284}], "disease": [{"text": "hypoxic", "start": 216, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Enhanced expression of Vascular-endothelial-growth-factor-receptor (VEGF-R) and Transketolase-like-1 (TKTL1) are related to hypoxic conditions in tumours.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 68, "end": 72}], "disease": [{"text": "hypoxic", "start": 124, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "SOX17 is frequently methylated in esophageal cancer and in a progression tendency during esophageal carcinogenesis.", "output": {"entities": {"gene": [{"text": "SOX17", "start": 0, "end": 5}], "disease": [{"text": "esophageal", "start": 34, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that the gene expression of MASH-1, MATH-1, neuroD and NSCL-2 during neural differentiation in P19 cells is transient and the order is similar to that in the mouse embryo nervous system as previously reported.", "output": {"entities": {"gene": [{"text": "P19", "start": 116, "end": 119}], "disease": [{"text": "nervous system", "start": 192, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "TRK-T1 is a novel oncogene formed by the fusion of TPR and TRK genes in human papillary thyroid carcinomas.", "output": {"entities": {"gene": [{"text": "TPR", "start": 51, "end": 54}], "disease": [{"text": "papillary thyroid carcinomas", "start": 78, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPR", "start": 51, "end": 54}, "tail": {"text": "papillary thyroid carcinomas", "start": 78, "end": 106}}]}}, "schema": []}
{"input": "Guidelines recommend the use of mean corpuscular haemoglobin (MCH) alone or in combination with mean corpuscular volume (MCV) in screening for alpha-and beta-thalassaemia.", "output": {"entities": {"gene": [{"text": "MCH", "start": 62, "end": 65}], "disease": [{"text": "mean corpuscular volume", "start": 96, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The leukemia-associated fusion gene AML1/MDS1/EVI1 (AME) encodes a chimeric transcription factor that results from the (3; 21) (q26; q22) translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 36, "end": 40}], "disease": [{"text": "translocation", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The convulsions induced by isoniazid (INH) were very resistant to both caerulein and diazepam; CCK-8 was not tested against isoniazid.", "output": {"entities": {"gene": [{"text": "CCK", "start": 95, "end": 98}], "disease": [{"text": "convulsions", "start": 4, "end": 15}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CCK", "start": 95, "end": 98}, "tail": {"text": "convulsions", "start": 4, "end": 15}}]}}, "schema": []}
{"input": "Tumours of appendix, including classic carcinoid tumour (CCT), goblet cell carcinoid (GCC), low-grade appendiceal mucinous neoplasm, high-grade appendiceal mucinous neoplasm/mucinous carcinoma (MCA) and non-mucinous adenocarcinoma (NMA), show different and sometimes mixed morphological features.", "output": {"entities": {"gene": [{"text": "NMA", "start": 232, "end": 235}], "disease": [{"text": "low-grade appendiceal mucinous neoplasm", "start": 92, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of the Gadd45 gene at exon 4 in atypical fibroxanthoma.", "output": {"entities": {"gene": [{"text": "Gadd45", "start": 25, "end": 31}], "disease": [{"text": "atypical fibroxanthoma", "start": 50, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.", "output": {"entities": {"gene": [{"text": "GJA3", "start": 20, "end": 24}], "disease": [{"text": "Coppock-like cataract", "start": 52, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJA3", "start": 20, "end": 24}, "tail": {"text": "Coppock-like cataract", "start": 52, "end": 73}}]}}, "schema": []}
{"input": "Our data provide the first evidence that blockade of ET (A) R-driven EMT can overcome chemoresistance and inhibit tumor progression, improving the outcome of EOC patients' treatment.", "output": {"entities": {"gene": [{"text": "EMT", "start": 69, "end": 72}], "disease": [{"text": "tumor progression", "start": 114, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.", "output": {"entities": {"gene": [{"text": "transforming growth factor-beta receptor type II", "start": 32, "end": 80}], "disease": [{"text": "oesophageal carcinoma", "start": 111, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "transforming growth factor-beta receptor type II", "start": 32, "end": 80}, "tail": {"text": "oesophageal carcinoma", "start": 111, "end": 132}}]}}, "schema": []}
{"input": "Longitudinal evaluation of FGF23 changes and mineral metabolism abnormalities in a mouse model of chronic kidney disease.", "output": {"entities": {"gene": [{"text": "FGF23", "start": 27, "end": 32}], "disease": [{"text": "abnormalities", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We describe a case of bilineal leukemia in a 5-year old boy with a rare immunophenotype and the novel translocation t (9; 17) (p11; q11) as the sole chromosomal abnormality.", "output": {"entities": {"gene": [{"text": "p11", "start": 127, "end": 130}], "disease": [{"text": "chromosomal abnormality", "start": 149, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "The first symptomatic bleeding leading to diagnosis of severe hemophilia (< 1%) occurred with a median (range) age of 1. 6 years (0. 5-7. 1) in children carrying defects within the protein C pathway or the PT gene mutation compared with non-carriers of prothrombotic risk factors (0. 9 years (0. 1-4. 0; p = 0. 01).", "output": {"entities": {"gene": [{"text": "protein C", "start": 181, "end": 190}], "disease": [{"text": "bleeding", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) contributes to tumor progression in various cancers.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 55, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "During tumour progression, EMT may enhance cancer cell invasion, promoting tumour metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 27, "end": 30}], "disease": [{"text": "tumour progression", "start": 7, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59, leads to uncontrolled complement activation that accounts for hemolysis and other PNH manifestations.", "output": {"entities": {"gene": [{"text": "GPI", "start": 49, "end": 52}], "disease": [{"text": "hemolysis", "start": 150, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Transmission disequilibrium of maternally-inherited CTLA-4 microsatellite alleles in idiopathic recurrent miscarriage.", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 52, "end": 58}], "disease": [{"text": "recurrent miscarriage", "start": 96, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 53, "end": 59}], "disease": [{"text": "CLAPO syndrome", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIK3CA", "start": 53, "end": 59}, "tail": {"text": "CLAPO syndrome", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "MUC1/glyceraldehyde-3-phosphate dehydrogenase messenger RNA (mRNA) ratio in intraductal papillary mucinous carcinoma (IPMC; median, 4710. 7) was significantly higher in intraductal papillary mucinous adenoma (IPMA; median, 727; P = 0. 0229).", "output": {"entities": {"gene": [{"text": "glyceraldehyde-3-phosphate dehydrogenase", "start": 5, "end": 45}], "disease": [{"text": "mucinous adenoma", "start": 191, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Cluster analysis however revealed that simultaneous high expression of SLC31A1, ABCC2, and ABCG2 indicates poor survival of HNSCC patients.", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 91, "end": 96}], "disease": [{"text": "HNSCC", "start": 124, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCG2", "start": 91, "end": 96}, "tail": {"text": "HNSCC", "start": 124, "end": 129}}]}}, "schema": []}
{"input": "We therefore assessed association of 6 tagging single nucleotide polymorphisms (tagSNPs), which were predicted to cover 96% the common genetic variability of GOAT plus 50 kb of the 5' and 3' flanking region, in 543 German patients with AN and 612 German normal and underweight healthy controls.", "output": {"entities": {"gene": [{"text": "GOAT", "start": 158, "end": 162}], "disease": [{"text": "underweight", "start": 265, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "VIIc was significantly increased in renal disease states and strongly influenced by a common polymorphism of the factor VII gene, but the increase in VIIc and its correlation with lipids was not genotype specific.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 113, "end": 123}], "disease": [{"text": "renal disease", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Results showed that HLA-DRB1 * 08 was negatively associated with asthma (2% vs 17%; Pc = 0. 02; OR = 0. 08) and atopy (0% vs 16%; Pc = 0. 04; OR = 0. 1), while DRB1 * 15 was positively associated with asthma (36% vs 13%; Pc = 0. 02; OR = 3. 6).", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 20, "end": 28}], "disease": [{"text": "atopy", "start": 112, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The objectives of this study were to determine the influence LPL mutations Asn291Ser and Ser447Ter on plasma lipid levels, regression and progression of CAD, clinical events rate, and response to fluvastatin therapy in the Lipoprotein and Coronary Atherosclerosis Study (LCAS) population.", "output": {"entities": {"gene": [{"text": "LPL", "start": 61, "end": 64}], "disease": [{"text": "regression", "start": 123, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In 289 patients with T3-4 (77. 8%), node-negative (84. 1%) tumors of the larynx, high EGFR and CCND1 mRNA correlated with no or ex-smoking, (p = 0. 003 and p = 0. 029, respectively), while low Akt3 mRNA correlated with alcohol abuse, N0 stage, total laryngectomy, and absence of neck dissection.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 86, "end": 90}], "disease": [{"text": "smoking", "start": 131, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.", "output": {"entities": {"gene": [{"text": "FKRP", "start": 13, "end": 17}], "disease": [{"text": "Walker-Warburg syndrome", "start": 58, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FKRP", "start": 13, "end": 17}, "tail": {"text": "Walker-Warburg syndrome", "start": 58, "end": 81}}]}}, "schema": []}
{"input": "A novel role for the retinoic acid-catabolizing enzyme CYP26A1 in Barrett' s associated adenocarcinoma.", "output": {"entities": {"gene": [{"text": "CYP26A1", "start": 55, "end": 62}], "disease": [{"text": "adenocarcinoma", "start": 88, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP26A1", "start": 55, "end": 62}, "tail": {"text": "adenocarcinoma", "start": 88, "end": 102}}]}}, "schema": []}
{"input": "Tetraspanins including CD9, CD37, CD63, and CD151 are linked to cellular adhesion, cell differentiation, migration, carcinogenesis, and tumor progression.", "output": {"entities": {"gene": [{"text": "CD37", "start": 28, "end": 32}], "disease": [{"text": "carcinogenesis", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We found that expression of CD151 was positively related to metastatic potential of HCC cell lines, and modified cells with CD151 (high) showed higher secretion of matrix metalloproteinase 9 and aggressiveness in vitro and higher metastatic ability in vivo.", "output": {"entities": {"gene": [{"text": "CD151", "start": 28, "end": 33}], "disease": [{"text": "aggressiveness", "start": 195, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "However, among subjects with microalbuminuria, those with the ACE DD genotype had a significantly greater urinary albumin excretion than individuals with a non-DD genotype [median 88 (68 to 170) mg/liter vs. 67 (53 to 113) mg/liter, P < 0. 001].", "output": {"entities": {"gene": [{"text": "ACE", "start": 62, "end": 65}], "disease": [{"text": "microalbuminuria", "start": 29, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "A female patient with the karyotype 45, X/46, X, r (X) (p11. 2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome.", "output": {"entities": {"gene": [{"text": "p11", "start": 56, "end": 59}], "disease": [{"text": "hypotonia", "start": 181, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Finally, similar levels of PGE (2) expression and p65 translocation into the nucleus were found in both patients and healthy volunteers, thus suggesting that TREM-1 regulation is neither controlled by PGE (2) levels nor by p65 activation in this case.", "output": {"entities": {"gene": [{"text": "TREM-1", "start": 158, "end": 164}], "disease": [{"text": "translocation", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "ITGA2 haplotype 2 (807C) and ITGA2B haplotype 1 (Ile (843)) were each associated with increased bleeding severity scores (P <. 01 and P <. 01, respectively).", "output": {"entities": {"gene": [{"text": "ITGA2B", "start": 29, "end": 35}], "disease": [{"text": "bleeding", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we show that the wild-type HSPB1 protein undergoes monomerization during heat-shock activation, strongly suggesting that the monomer is the active form of the HSPB1 protein.", "output": {"entities": {"gene": [{"text": "HSPB1", "start": 40, "end": 45}], "disease": [{"text": "shock", "start": 91, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Moreover, these animals exhibited renal inflammation, fibrosis, and increased cyclin E. These results indicate that FHHt-associated CUL3 Δ403-459 targets KLHL3 for degradation, thereby preventing WNK degradation, whereas general loss of CUL3 activity-while also impairing WNK degradation-has widespread toxic effects in the kidney.", "output": {"entities": {"gene": [{"text": "CUL3", "start": 132, "end": 136}], "disease": [{"text": "fibrosis", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "This finding supports the notion that SOX2 contributes to the tumorigenesis of lung cancer cells and can be used as a diagnostic probe.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 38, "end": 42}], "disease": [{"text": "tumorigenesis", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The impact of cocaine addiction on GMV, tested by (1) comparing the CUD group with controls, (2) testing diagnosis & #215; MAOA interactions, and (3) correlating GMV with lifetime cocaine, alcohol, and cigarette smoking, and testing their unique contribution to GMV beyond other factors.", "output": {"entities": {"gene": [{"text": "MAOA", "start": 123, "end": 127}], "disease": [{"text": "cocaine addiction", "start": 14, "end": 31}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAOA", "start": 123, "end": 127}, "tail": {"text": "cocaine addiction", "start": 14, "end": 31}}]}}, "schema": []}
{"input": "The aim of this study was to evaluate the effect of inflammation on NAD (P) H: quinone oxidoreductase-1 (NQO1), the xenobiotic metabolizing and antioxidant enzyme protecting cells against electrophiles and reactive oxygen species in biliary cancer (cholangiocarcinoma) cells.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 105, "end": 109}], "disease": [{"text": "inflammation", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "This review summarizes what is known regarding the relationships of the ABCB1 and CYP3A5 genes with blood pressure, and discusses the potential underlying mechanisms of the association.", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 72, "end": 77}], "disease": [{"text": "blood pressure", "start": 100, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 113, "end": 118}], "disease": [{"text": "thanatophoric dysplasia type I", "start": 122, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 113, "end": 118}, "tail": {"text": "thanatophoric dysplasia type I", "start": 122, "end": 152}}]}}, "schema": []}
{"input": "The A375 and C8161 melanoma cell lines were stably transfected with ODAM and assayed for properties associated with tumorigenicity including cell growth, motility, and extracellular matrix adhesion.", "output": {"entities": {"gene": [{"text": "ODAM", "start": 68, "end": 72}], "disease": [{"text": "adhesion", "start": 189, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Restoration of miR-7 suppresses the expression of the stemness factor KLF4 in PCSCs and inhibits prostate tumorigenesis both in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 15, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show that mono-(2-ethylhexyl) phthalate (MEHP) induces matrix metalloproteinase 2 (MMP2) expression in testicular embryonal carcinoma NT2/D1 cells but has no significant effect on MMP9 expression.", "output": {"entities": {"gene": [{"text": "MMP9", "start": 198, "end": 202}], "disease": [{"text": "testicular embryonal carcinoma", "start": 121, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 62, "end": 67}], "disease": [{"text": "Wilson disease", "start": 100, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 62, "end": 67}, "tail": {"text": "Wilson disease", "start": 100, "end": 114}}]}}, "schema": []}
{"input": "Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 14, "end": 21}], "disease": [{"text": "Pendred syndrome", "start": 65, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC26A4", "start": 14, "end": 21}, "tail": {"text": "Pendred syndrome", "start": 65, "end": 81}}]}}, "schema": []}
{"input": "LIT1 and H19 methylation defects in isolated hemihyperplasia.", "output": {"entities": {"gene": [{"text": "LIT1", "start": 0, "end": 4}], "disease": [{"text": "hemihyperplasia", "start": 45, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LIT1", "start": 0, "end": 4}, "tail": {"text": "hemihyperplasia", "start": 45, "end": 60}}]}}, "schema": []}
{"input": "Moreover, germline and somatic gain-of-function mutations of MALT1, BCL10, and CARD11 have also been found in patients with other lymphoproliferative disorders.", "output": {"entities": {"gene": [{"text": "BCL10", "start": 68, "end": 73}], "disease": [{"text": "lymphoproliferative disorders", "start": 130, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Activation-induced cytidine deaminase (AID) not only promotes immune diversity by initiating somatic hypermutation and class switch recombination in immunoglobulin genes but also provokes genomic instability by introducing translocations and mutations into non-immunoglobulin genes.", "output": {"entities": {"gene": [{"text": "AID", "start": 39, "end": 42}], "disease": [{"text": "genomic instability", "start": 188, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The frequency of the TNFA * 2 allele was significantly higher in atopic subjects compared to the control group (38. 5% vs. 10. 5%; chi2 = 32. 06; p < 0. 0001).", "output": {"entities": {"gene": [{"text": "TNFA", "start": 21, "end": 25}], "disease": [{"text": "atopic", "start": 65, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We analysed (n = 386, controls and n = 384, MetS subjects) for MCP-1 gene polymorphism using PCR-RFLP, its serum level using ELISA, anthropometric (body mass index, waist and hip circumferences, waist-hip ratio and blood pressure) and biochemical (serum lipids, plasma glucose and insulin levels) variables in a genetic association study.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 63, "end": 68}], "disease": [{"text": "waist-hip ratio", "start": 195, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "In support of our prediction, GPR52 knockout and transgenic mice exhibited psychosis-related and antipsychotic-like behaviors, respectively.", "output": {"entities": {"gene": [{"text": "GPR52", "start": 30, "end": 35}], "disease": [{"text": "psychosis", "start": 75, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPR52", "start": 30, "end": 35}, "tail": {"text": "psychosis", "start": 75, "end": 84}}]}}, "schema": []}
{"input": "Lower doses of systemic morphine (50 mg/kg) were necessary to block i. c. v. morphine seizures than the dose (100 mg/kg) necessary to block seizures induced by i. c. v. Leu-enkephalin and beta-endorphin.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 188, "end": 202}], "disease": [{"text": "seizures", "start": 86, "end": 94}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "beta-endorphin", "start": 188, "end": 202}, "tail": {"text": "seizures", "start": 86, "end": 94}}]}}, "schema": []}
{"input": "To our knowledge, this is the first association study between ERBB3 and schizophrenia in the Caucasian population.", "output": {"entities": {"gene": [{"text": "ERBB3", "start": 62, "end": 67}], "disease": [{"text": "schizophrenia", "start": 72, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERBB3", "start": 62, "end": 67}, "tail": {"text": "schizophrenia", "start": 72, "end": 85}}]}}, "schema": []}
{"input": "Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.", "output": {"entities": {"gene": [{"text": "ITPR1", "start": 22, "end": 27}], "disease": [{"text": "congenital nonprogressive spinocerebellar ataxia", "start": 53, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITPR1", "start": 22, "end": 27}, "tail": {"text": "congenital nonprogressive spinocerebellar ataxia", "start": 53, "end": 101}}]}}, "schema": []}
{"input": "Murine knockouts of HIF, pVHL, PHD, and VEGF have demonstrated the essential role of these hypoxic response pathway proteins in development.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 40, "end": 44}], "disease": [{"text": "hypoxic", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "This report suggests that SHOX gene triplication may produce a tall stature, even in the presence of preserved ovarian function.", "output": {"entities": {"gene": [{"text": "SHOX gene", "start": 26, "end": 35}], "disease": [{"text": "tall stature", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay.", "output": {"entities": {"gene": [{"text": "MIM", "start": 16, "end": 19}], "disease": [{"text": "facial dysmorphism", "start": 110, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The translocation results in fusion of the SYT gene on chromosome 18 to either the SSX1 or the SSX2 gene, two homologous genes within Xp11. 2.", "output": {"entities": {"gene": [{"text": "SSX2 gene", "start": 95, "end": 104}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we demonstrated that myeloid differentiation primary response gene 88 (MyD88) lies downstream of LPS/TLR4 and upstream of BLT2 and that this' MyD88-BLT2' cascade mediates ERK activation and subsequent ICAM-1 expression, which is critical for the adhesion of MDA-MB-231 cells to THP-1 monocytes.", "output": {"entities": {"gene": [{"text": "BLT2", "start": 132, "end": 136}], "disease": [{"text": "adhesion", "start": 256, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the role of the genetic variants of cell death pathway genes in male infertility, we genotyped the polymorphisms of FAS, FASLG and caspase-8 (CASP8) genes and evaluated their effects on sperm apoptosis and semen quality in infertile men.", "output": {"entities": {"gene": [{"text": "FASLG", "start": 134, "end": 139}], "disease": [{"text": "male infertility", "start": 77, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The genome-wide accumulation of DNA replication errors known as microsatellite instability (MSI) is the hallmark lesion of DNA mismatch repair (MMR)-deficient cancers.", "output": {"entities": {"gene": [{"text": "MMR", "start": 144, "end": 147}], "disease": [{"text": "microsatellite instability", "start": 64, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "In those with a non-movement presentation, language disorder was more common in PGRN subjects (18. 7%) compared to MAPT subjects (5. 4%).", "output": {"entities": {"gene": [{"text": "PGRN", "start": 80, "end": 84}], "disease": [{"text": "language disorder", "start": 43, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we have shown that a human revertant lung cancer cell line (COR-L23/Rev) has the ability to recover quickly, similar levels of MRP expression and resistance as COR-L23/R after a transient exposure to the MDR-drugs doxorubicin and vincristine.", "output": {"entities": {"gene": [{"text": "L23", "start": 79, "end": 82}], "disease": [{"text": "lung cancer", "start": 52, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The data, in conjunction with previous studies, suggest that different types (Th1 and Th2 associated) of DTH responses may function differently in host defense against chlamydial infection and that the functional differences in DTH responses may account for the dual role that DTH is speculated to play in chlamydial protective immunity and immunopathology.", "output": {"entities": {"gene": [{"text": "Th1", "start": 78, "end": 81}], "disease": [{"text": "chlamydial infection", "start": 168, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 13, "end": 17}], "disease": [{"text": "Waardenburg syndrome type I", "start": 29, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX3", "start": 13, "end": 17}, "tail": {"text": "Waardenburg syndrome type I", "start": 29, "end": 56}}]}}, "schema": []}
{"input": "Importantly, ACLP-deficient mice accumulated significantly fewer myofibroblasts and less collagen in the lung after bleomycin injury, as compared with wild-type controls, despite equivalent levels of bleomycin-induced inflammation.", "output": {"entities": {"gene": [{"text": "ACLP", "start": 13, "end": 17}], "disease": [{"text": "inflammation", "start": 218, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "We suggest that the 20210 G/A prothrombin gene mutation be measured in all women on ERT or before beginning ERT to identify those heterozygous for the thrombophilic prothrombin gene mutation (4%) in whom ERT is contraindicated because of increased risk for ATCVD and thromboembolism, and a second, much larger group of women without the 20210 G/A prothrombin gene mutation (96%) in whom ERT may possibly reduce risk for ATCVD.", "output": {"entities": {"gene": [{"text": "ERT", "start": 84, "end": 87}], "disease": [{"text": "thromboembolism", "start": 267, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Deletions removing exons 33 and 34 of the large splice variant of ULK4 also were enriched in Icelandic schizophrenia and bipolar patients compared with 98, 022 controls (P & #8202; = & #8202; 0. 0007 for schizophrenia plus bipolar disorder).", "output": {"entities": {"gene": [{"text": "ULK4", "start": 66, "end": 70}], "disease": [{"text": "bipolar disorder", "start": 223, "end": 239}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ULK4", "start": 66, "end": 70}, "tail": {"text": "bipolar disorder", "start": 223, "end": 239}}]}}, "schema": []}
{"input": "In this study, we tested the genetic association of DGKH, DFNB31 and SORCS2 with BD.", "output": {"entities": {"gene": [{"text": "DFNB31", "start": 58, "end": 64}], "disease": [{"text": "BD", "start": 81, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DFNB31", "start": 58, "end": 64}, "tail": {"text": "BD", "start": 81, "end": 83}}]}}, "schema": []}
{"input": "BRCA1-mutated tumors show genomic instability, mainly as a consequence of impaired recombinatorial DNA repair.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "genomic instability", "start": 26, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "When elevated thyrotropin (TSH) and/or decreased T4 are found in the blood of neonates, they are recalled, values are confirmed in venous blood and thyroxine replacement therapy (TRT) is immediately instituted, thus cretinism or severe retardation is prevented.", "output": {"entities": {"gene": [{"text": "TRT", "start": 179, "end": 182}], "disease": [{"text": "cretinism", "start": 216, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We have described, for the first time, that pancreatic ductal adenocarcinomas (PDACs) with an aggressive behavior and a poor outcome expressed MUC1 (pan-epithelial membrane-associated mucin) but did not express MUC2 (intestinal-type secreted mucin), whereas intraductal papillary mucinous neoplasms (IPMNs) with indolent behavior and a favorable outcome did not express MUC1 but did express MUC2.", "output": {"entities": {"gene": [{"text": "MUC2", "start": 211, "end": 215}], "disease": [{"text": "aggressive behavior", "start": 94, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "High ACP1 activity/low ADA activity joint genotype was positively associated with high glycemic levels and with high body mass index (BMI) values.", "output": {"entities": {"gene": [{"text": "ACP1", "start": 5, "end": 9}], "disease": [{"text": "body mass index", "start": 117, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "After ischemia, there was increased immunoreactivity within neurons in dentate gyrus, CA3, and cortex.", "output": {"entities": {"gene": [{"text": "CA3", "start": 86, "end": 89}], "disease": [{"text": "ischemia", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "CD154 expression in the vessel wall and plaque size correlated significantly.", "output": {"entities": {"gene": [{"text": "CD154", "start": 0, "end": 5}], "disease": [{"text": "plaque", "start": 40, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "In patients with anaplastic astrocytoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma, combination of germ-line GSTP1 * A/* A and GSTM1 null genotype confers a survival advantage.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 147, "end": 152}], "disease": [{"text": "anaplastic oligodendroglioma", "start": 41, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Taken together, Gyp induced DNA damage and inhibited DNA repair-associated gene expressions in human oral cancer SAS cells in vitro.", "output": {"entities": {"gene": [{"text": "SAS", "start": 113, "end": 116}], "disease": [{"text": "oral cancer", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Spiruchostatin B (SP-B) is a potent histone deacetylase (HDAC) inhibitor that has potential for the chemotherapy of leukemia.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 18, "end": 22}], "disease": [{"text": "leukemia", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of CYP26A1 in adenomatous polyposis coli-deficient vertebrates via a WNT-dependent mechanism: implications for intestinal cell differentiation and colon tumor development.", "output": {"entities": {"gene": [{"text": "CYP26A1", "start": 17, "end": 24}], "disease": [{"text": "adenomatous polyposis coli", "start": 28, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP26A1", "start": 17, "end": 24}, "tail": {"text": "adenomatous polyposis coli", "start": 28, "end": 54}}]}}, "schema": []}
{"input": "In situ hybridization analysis revealed that lumican mRNA was not expressed in squamous or ductal epithelial cells in non-cancerous tissues, but was expressed in most cancer cells and stromal fibroblasts in uterine cervical cancer tissues.", "output": {"entities": {"gene": [{"text": "lumican", "start": 45, "end": 52}], "disease": [{"text": "uterine cervical cancer", "start": 207, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "In order to identify additional genotypes in primary hyperoxaluria type 1, we sequenced the AGXT genes of 9 patients. We report 5 new mutations.", "output": {"entities": {"gene": [{"text": "AGXT", "start": 92, "end": 96}], "disease": [{"text": "primary hyperoxaluria type 1", "start": 45, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGXT", "start": 92, "end": 96}, "tail": {"text": "primary hyperoxaluria type 1", "start": 45, "end": 73}}]}}, "schema": []}
{"input": "In our studies we identified the human lethal giant larvae homologue 2, Hugl-2, (Llgl2/Lgl2) polarity gene as downregulated by Snail.", "output": {"entities": {"gene": [{"text": "Llgl2", "start": 81, "end": 86}], "disease": [{"text": "giant", "start": 46, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "An anti-inflammatory role for carbon monoxide and heme oxygenase-1 in chronic Th2-mediated murine colitis.", "output": {"entities": {"gene": [{"text": "heme oxygenase-1", "start": 50, "end": 66}], "disease": [{"text": "colitis", "start": 98, "end": 105}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "heme oxygenase-1", "start": 50, "end": 66}, "tail": {"text": "colitis", "start": 98, "end": 105}}]}}, "schema": []}
{"input": "The potent antiangiogenic effects of hypoxic cytotoxins can be attributed to the suppression of VEGF and HIF-1 induction through the hypoxia-inducible pathway.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 96, "end": 100}], "disease": [{"text": "hypoxia", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Microinjection of NPY (160 pmol) into the areas adjacent to the LC did not attenuate the rigidity.", "output": {"entities": {"gene": [{"text": "NPY", "start": 18, "end": 21}], "disease": [{"text": "rigidity", "start": 89, "end": 97}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NPY", "start": 18, "end": 21}, "tail": {"text": "rigidity", "start": 89, "end": 97}}]}}, "schema": []}
{"input": "Most importantly, we found that the gene silencing factor methyl CpG-binding domain protein 3 (MBD3) was not only released from cancer-selective promoter of the HDI up-regulated p21 (WAF1/Cip1) gene but also recruited to that of the HDI-down-regulated ErbB2 gene.", "output": {"entities": {"gene": [{"text": "MBD3", "start": 95, "end": 99}], "disease": [{"text": "cancer", "start": 128, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We found that two out of eight HMG samples showed trisomy of chromosome 1q, which encompasses many genes, including AKT3, a gene known to regulate brain size.", "output": {"entities": {"gene": [{"text": "AKT3", "start": 116, "end": 120}], "disease": [{"text": "HMG", "start": 31, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AKT3", "start": 116, "end": 120}, "tail": {"text": "HMG", "start": 31, "end": 34}}]}}, "schema": []}
{"input": "In this study, we investigated whether the peripheral pool and the function of CD4 (+) CD25 (+) Tregs are altered in patients of myasthenia gravis (MG), a chronic autoimmune disorder that results in progressive skeletal muscle weakness.", "output": {"entities": {"gene": [{"text": "CD4", "start": 79, "end": 82}], "disease": [{"text": "myasthenia gravis", "start": 129, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We have further validated the protein overexpression of ErbB3, Dr5 and Znf146, using immunohistochemical (IHC) analysis on a tissue microarray that contained 75 BAs and normal gastric and esophageal mucosae samples.", "output": {"entities": {"gene": [{"text": "Znf146", "start": 71, "end": 77}], "disease": [{"text": "esophageal", "start": 188, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "A significant acceleration in mammary tumor incidence and growth was observed in the MMTV-Wnt/ILK mice.", "output": {"entities": {"gene": [{"text": "ILK", "start": 94, "end": 97}], "disease": [{"text": "mammary tumor", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "In the subgroup of primary ALL cells, with low expression of caspase-8, methotrexate (MTX) upregulated the expression of caspase-8 mediated by the transcription factor p53, suggesting epigenetic silencing of caspase-8.", "output": {"entities": {"gene": [{"text": "caspase-8", "start": 61, "end": 70}], "disease": [{"text": "ALL", "start": 27, "end": 30}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "caspase-8", "start": 61, "end": 70}, "tail": {"text": "ALL", "start": 27, "end": 30}}]}}, "schema": []}
{"input": "We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein.", "output": {"entities": {"gene": [{"text": "VHL", "start": 59, "end": 62}], "disease": [{"text": "VHL", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VHL", "start": 59, "end": 62}, "tail": {"text": "VHL", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "In conclusion, we demonstrated that decreased colonic MFG-E8 expression in patients with ulcerative colitis may be associated with mucosal inflammatory activity and clinical disease activity through basal cell apoptosis and preventing tissue healing in the pathogenesis of ulcerative colitis.", "output": {"entities": {"gene": [{"text": "MFG-E8", "start": 54, "end": 60}], "disease": [{"text": "ulcerative colitis", "start": 89, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Published studies suggest associations between circadian gene polymorphisms and bipolar I disorder (BPI), as well as schizoaffective disorder (SZA) and schizophrenia (SZ).", "output": {"entities": {"gene": [{"text": "BPI", "start": 100, "end": 103}], "disease": [{"text": "schizoaffective disorder", "start": 117, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Previously, we have associated exonic polymorphisms in a Xq13 thyroid receptor coactivator named HOPA with a modest increase in vulnerability to a broad spectrum of neuropsychiatric illness, including depression, psychosis, and hypothyroidism.", "output": {"entities": {"gene": [{"text": "HOPA", "start": 97, "end": 101}], "disease": [{"text": "depression", "start": 201, "end": 211}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOPA", "start": 97, "end": 101}, "tail": {"text": "depression", "start": 201, "end": 211}}]}}, "schema": []}
{"input": "To evaluate whether generalized xerosis was associated with asthma, independent of atopic dermatitis and common FLG mutations in a cross-sectional study on adult Danes.", "output": {"entities": {"gene": [{"text": "FLG", "start": 112, "end": 115}], "disease": [{"text": "xerosis", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In addition to central nervous system effects, we found that, in contrast to wild-type mice, Crhr2-/-mice fail to show the enhanced cardiac performance or reduced blood pressure associated with systemic Ucn, suggesting that Crhr2 mediates these peripheral haemodynamic effects.", "output": {"entities": {"gene": [{"text": "Crhr2", "start": 93, "end": 98}], "disease": [{"text": "blood pressure", "start": 163, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Across species, genetic variants that result in decreased expression of the Gstm1 gene are associated with increased susceptibility for vascular diseases, including atherosclerosis in humans.", "output": {"entities": {"gene": [{"text": "Gstm1 gene", "start": 76, "end": 86}], "disease": [{"text": "vascular diseases", "start": 136, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Of 40 patients with IL1A * 2, 18 (45%) had an unfavorable outcome (dead, vegetative state, or severe disability) compared with 7 (22. 5%) of 31 without IL1A * 2 (P =. 08).", "output": {"entities": {"gene": [{"text": "IL1A", "start": 20, "end": 24}], "disease": [{"text": "vegetative state", "start": 73, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.", "output": {"entities": {"gene": [{"text": "ALAS2", "start": 73, "end": 78}], "disease": [{"text": "X-linked sideroblastic anemia", "start": 93, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALAS2", "start": 73, "end": 78}, "tail": {"text": "X-linked sideroblastic anemia", "start": 93, "end": 122}}]}}, "schema": []}
{"input": "This is the first report on Bad gene mutation in human malignancies, and our data suggest that s and that somatic mutation of Bad may contribute to the development of colon cancers.", "output": {"entities": {"gene": [{"text": "Bad gene", "start": 28, "end": 36}], "disease": [{"text": "somatic mutation", "start": 106, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia).", "output": {"entities": {"gene": [{"text": "AKAP6", "start": 144, "end": 149}], "disease": [{"text": "intellectual disability", "start": 153, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKAP6", "start": 144, "end": 149}, "tail": {"text": "intellectual disability", "start": 153, "end": 176}}]}}, "schema": []}
{"input": "We have analyzed the expression of the three retinoic acid receptor (RAR) (alpha, beta, gamma) mRNAs and the intermediate filament protein keratin 19 (K19) mRNA in cell lines cultured from oral and epidermal human squamous cell carcinoma (SCC) and from benign, hyperplastic, and hyperkeratotic (leukoplakia) lesions arising in various regions of the oral cavity.", "output": {"entities": {"gene": [{"text": "RAR", "start": 69, "end": 72}], "disease": [{"text": "leukoplakia", "start": 295, "end": 306}]}, "relations": {}}, "schema": []}
{"input": "In a brief, the results support the hypothesis that polymorphisms or haplotypes in the LRRC4 may have important research significance and could be used to predict the risk of pituitary adenoma.", "output": {"entities": {"gene": [{"text": "LRRC4", "start": 87, "end": 92}], "disease": [{"text": "pituitary adenoma", "start": 175, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The activity of parenchymal aryl hydrocarbon hydroxylase (AHH) and epoxide hydrolase (EH) that had been determined previously in homogenates of non-neoplastic surgical lung specimens, was used for comparisons of the patients' survival after surgery.", "output": {"entities": {"gene": [{"text": "AHH", "start": 58, "end": 61}], "disease": [{"text": "non-neoplastic", "start": 144, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.", "output": {"entities": {"gene": [{"text": "WT1", "start": 32, "end": 35}], "disease": [{"text": "Denys-Drash syndrome", "start": 58, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WT1", "start": 32, "end": 35}, "tail": {"text": "Denys-Drash syndrome", "start": 58, "end": 78}}]}}, "schema": []}
{"input": "Paradoxically, PTH also exerts anabolic actions, with intermittent injections of PTH or its amino-terminal fragments causing an increase in bone formation and bone mass, actions that form the basis for the use of PTH in the treatment of osteoporosis.", "output": {"entities": {"gene": [{"text": "PTH", "start": 15, "end": 18}], "disease": [{"text": "bone mass", "start": 159, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these novel liver toxicity biomarkers, GSTA, ARG1, and HPD, add value (both enhanced specificity and sensitivity) to the measurement of ALT alone for monitoring drug-induced liver injury in rat.", "output": {"entities": {"gene": [{"text": "HPD", "start": 71, "end": 74}], "disease": [{"text": "drug-induced liver injury", "start": 177, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HPD", "start": 71, "end": 74}, "tail": {"text": "drug-induced liver injury", "start": 177, "end": 202}}]}}, "schema": []}
{"input": "Overexpression analyses of the human NAT in human embryonic kidney (HEK293A) and human neuroblastoma (SH-SY5Y) cell lines show that it can function to downregulate Nav1. 7 mRNA, protein levels and currents.", "output": {"entities": {"gene": [{"text": "NAT", "start": 37, "end": 40}], "disease": [{"text": "neuroblastoma", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Mismatch repair (MMR) deficiency was determined by microsatellite instability (MSI) analysis, and immunostaining for MLH1, MSH2, MSH6, and PMS2 proteins.", "output": {"entities": {"gene": [{"text": "MMR", "start": 17, "end": 20}], "disease": [{"text": "microsatellite instability", "start": 51, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Owing to the parallelism between the in vitro insulin mimicry and the in vivo improvement of glucose handling elicited by benzylamine in rodents, the SSAO/VAP-1 substrates, with stronger effects on human adipocytes than benzylamine, show promising applications for the treatment of insulin resistance.", "output": {"entities": {"gene": [{"text": "VAP-1", "start": 155, "end": 160}], "disease": [{"text": "insulin resistance", "start": 282, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "In contrast, alveolar macrophages from subjects with alcohol abuse had decreased MMP-9 and MMP-2 mRNA expression (p & lt; 0. 03 and p & lt; 0. 005, respectively).", "output": {"entities": {"gene": [{"text": "MMP-2", "start": 91, "end": 96}], "disease": [{"text": "alcohol abuse", "start": 53, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-2", "start": 91, "end": 96}, "tail": {"text": "alcohol abuse", "start": 53, "end": 66}}]}}, "schema": []}
{"input": "In addition to the Bj & #246; rnstad syndrome, BCS1L mutations cause complex III deficiency and the GRACILE syndrome, which in neonates are lethal conditions that have multisystem and neurologic manifestations typifying severe mitochondrial disorders.", "output": {"entities": {"gene": [{"text": "BCS1L", "start": 47, "end": 52}], "disease": [{"text": "GRACILE syndrome", "start": 100, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCS1L", "start": 47, "end": 52}, "tail": {"text": "GRACILE syndrome", "start": 100, "end": 116}}]}}, "schema": []}
{"input": "In the majority of the myeloma lines, the level of expression was comparable with that observed in Karpas 422, a follicular lymphoma cell line carrying a 14; 18 translocation of the bcl-2 gene.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 182, "end": 192}], "disease": [{"text": "translocation", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Exposure of HTB-46 cells to heat shock, sodium arsenite, or cadmium chloride led to a 7-to 8-fold increase in MDR1 mRNA levels.", "output": {"entities": {"gene": [{"text": "MDR1", "start": 110, "end": 114}], "disease": [{"text": "shock", "start": 33, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that NKX2-5 mutations are a relatively infrequent cause of sporadic ASD and HLHS.", "output": {"entities": {"gene": [{"text": "NKX2-5", "start": 26, "end": 32}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expression of OSTalpha-OSTbeta was significantly reduced (OSTalpha: 3. 3-fold, P = 0. 006; OSTbeta: 2. 6-fold, P = 0. 03) in normal-weight but not overweight gallstone carriers compared with controls.", "output": {"entities": {"gene": [{"text": "OSTalpha", "start": 23, "end": 31}], "disease": [{"text": "overweight", "start": 156, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Loss of a part of chromosome 8p22, containing the gene LPL and amplifications of the field 8q24 comprising the c-myc oncogene are the most frequent chromosomal aberrations in prostate cancer.", "output": {"entities": {"gene": [{"text": "myc oncogene", "start": 113, "end": 125}], "disease": [{"text": "chromosomal aberrations", "start": 148, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Neuronal ceroid lipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurodegenerative diseases of childhood characterized by seizures, blindness, motor and cognitive decline and premature death.", "output": {"entities": {"gene": [{"text": "NCL", "start": 32, "end": 35}], "disease": [{"text": "seizures", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Terminal ileal biopsies from 66 patients with prominent lymphoid hyperplasia and abnormal \" lymphoma-like \" morphology were evaluated by immunohistochemistry (IHC) for CD3, CD5, CD43, CD20, CD21, and CD10 expression and for IGH @gene rearrangement by polymerase chain reaction using BIOMED-2 primers.", "output": {"entities": {"gene": [{"text": "IGH", "start": 224, "end": 227}], "disease": [{"text": "lymphoid hyperplasia", "start": 56, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the role of IFN-gamma in bone metastases, tumor-associated bone destruction, and hypercalcemia in human T cell lymphotrophic virus type 1-Tax transgenic mice.", "output": {"entities": {"gene": [{"text": "IFN", "start": 25, "end": 28}], "disease": [{"text": "hypercalcemia", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "A silent polymorphism (707C & gt; T, rs1126616) of osteopontin was significantly associated with SLE.", "output": {"entities": {"gene": [{"text": "osteopontin", "start": 51, "end": 62}], "disease": [{"text": "SLE", "start": 97, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "osteopontin", "start": 51, "end": 62}, "tail": {"text": "SLE", "start": 97, "end": 100}}]}}, "schema": []}
{"input": "We describe five affected individuals with similar dysmorphic facies, and three of them had either complete situs inversus, dextrocardia, or transposition of the great arteries; similar cardiac abnormalities were previously identified in a mouse mutant for the orthologous Megf8.", "output": {"entities": {"gene": [{"text": "Megf8", "start": 273, "end": 278}], "disease": [{"text": "dextrocardia", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The BCL2 gene was in germ-line configuration in all ILL. Sequential hybridization of Southern blots with JH, C mu, and BCLI probes identified comigrating fragments in only one case of ILL, which suggests that, in all the other cases, either the rearrangement of BCL1 did not result from a t (11; 14) translocation or the break on chromosome 14 occurred outside the JH or C mu regions.", "output": {"entities": {"gene": [{"text": "BCL2 gene", "start": 4, "end": 13}], "disease": [{"text": "translocation", "start": 300, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "However, patients with end-stage liver failure respond to supraphysiological doses of GH with an increase in circulating insulin-like growth factor I levels.", "output": {"entities": {"gene": [{"text": "insulin-like growth factor I", "start": 121, "end": 149}], "disease": [{"text": "liver failure", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Chfr is linked to tumour metastasis through the downregulation of HDAC1.", "output": {"entities": {"gene": [{"text": "Chfr", "start": 0, "end": 4}], "disease": [{"text": "metastasis", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Collectively, we identified LASP1 as a hitherto unknown protein in melanocytes and as novel partner of dynamin in the physiological process of membrane constriction and melanosome vesicle release.", "output": {"entities": {"gene": [{"text": "LASP1", "start": 28, "end": 33}], "disease": [{"text": "vesicle", "start": 180, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Significant correlations were found between the activities of GOT or GPT and fasting blood glucose, age, body mass index, heart rate and blood pressure levels.", "output": {"entities": {"gene": [{"text": "GPT", "start": 69, "end": 72}], "disease": [{"text": "blood pressure", "start": 137, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The incidence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC) and hyperparathyroidism (HPT) in the 37 MEN2A patients was 91. 9, 56. 8 and 10. 8%, respectively; the onset of MTC in MEN2A patients was earlier than that of PCC and HPT.", "output": {"entities": {"gene": [{"text": "HPT", "start": 100, "end": 103}], "disease": [{"text": "medullary thyroid carcinoma", "start": 17, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Aprataxin forms another discrete branch of the HIT superfamily, is implicated in DNA repair mechanisms and unlike the HINT and FHIT members, a defective protein can be conclusively linked to a disease, ataxia with oculomotor apraxia type 1.", "output": {"entities": {"gene": [{"text": "HINT", "start": 118, "end": 122}], "disease": [{"text": "ataxia with oculomotor apraxia", "start": 202, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "The expression of beta2-microglobulin (beta2m), HLA-A, B, and C antigens, transporter associated with antigen processing 1 (TAP1), TAP2, low-molecular-weight protein 2 (LMP2), and LMP7 were analyzed using reverse-transcription polymerase chain reaction (RT-PCR) in microdissected tumor samples.", "output": {"entities": {"gene": [{"text": "LMP2", "start": 169, "end": 173}], "disease": [{"text": "weight", "start": 151, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes.", "output": {"entities": {"gene": [{"text": "EVC2", "start": 124, "end": 128}], "disease": [{"text": "Ellis van Creveld syndrome", "start": 50, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EVC2", "start": 124, "end": 128}, "tail": {"text": "Ellis van Creveld syndrome", "start": 50, "end": 76}}]}}, "schema": []}
{"input": "Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 95, "end": 113}], "disease": [{"text": "familial chylomicronemia", "start": 43, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 95, "end": 113}, "tail": {"text": "familial chylomicronemia", "start": 43, "end": 67}}]}}, "schema": []}
{"input": "This study investigated two variants, TNF-alpha-308 * 2 and lymphotoxin (LT)-alpha-NcoI * 1, which may predispose individuals to asthma and atopy pathogenesis.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 38, "end": 47}], "disease": [{"text": "atopy", "start": 140, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "A DNA alteration in the merlin coding sequence caused a shift on SSCP gels that was characteristic of the disease chromosome in this NF2 pedigree, being transmitted with the disorder, present only in affected members of the pedigree, absent in unaffected members of the family, and absent from 158 unrelated individuals.", "output": {"entities": {"gene": [{"text": "merlin", "start": 24, "end": 30}], "disease": [{"text": "NF2", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "merlin", "start": 24, "end": 30}, "tail": {"text": "NF2", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "The NUP98 gene at 11p15 is known to be fused to DDX10, HOXA9, HOXA11, HOXA13, HOXD11, HOXD13, LEDGF, NSD1, NSD3, PMX1, RAP1GDS1, and TOP1 in various hematologic malignancies.", "output": {"entities": {"gene": [{"text": "HOXD13", "start": 86, "end": 92}], "disease": [{"text": "hematologic malignancies", "start": 149, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the Phe377del mutation in ANK causes impaired osteoblastogenesis and osteoclastogenesis resulting in hypomineralization and a high bone mass phenotype.", "output": {"entities": {"gene": [{"text": "ANK", "start": 43, "end": 46}], "disease": [{"text": "high bone mass", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In contrast to BL, MYC aberrations in DLBCL are usually associated with multiple cytogenetic abnormalities and other genetic lesions, such as concurrent BCL2 translocations.", "output": {"entities": {"gene": [{"text": "MYC", "start": 19, "end": 22}], "disease": [{"text": "cytogenetic abnormalities", "start": 81, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Long-term changes in catecholamine levels and expression of their biosynthetic enzymes are associated with several stress-related disorders such as elevated plasma norepinephrine in posttraumatic stress disorder and increased postmortem tyrosine hydroxylase in the locus coeruleus with major depression.", "output": {"entities": {"gene": [{"text": "tyrosine hydroxylase", "start": 237, "end": 257}], "disease": [{"text": "major depression", "start": 286, "end": 302}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tyrosine hydroxylase", "start": 237, "end": 257}, "tail": {"text": "major depression", "start": 286, "end": 302}}]}}, "schema": []}
{"input": "We investigated microsatellite instability (MSI) and status of mismatch repair (MMR) gene product, MLH1, MSH2 and MSH6, in 63 sporadic endometrial cancers coexisting with colorectal or breast cancer.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 114, "end": 118}], "disease": [{"text": "sporadic", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Downregulation of PrP (C) makes gastric cancer cells more sensitive to hypoxia induced drug sensitivity.", "output": {"entities": {"gene": [{"text": "PrP (C)", "start": 18, "end": 25}], "disease": [{"text": "gastric cancer", "start": 32, "end": 46}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PrP (C)", "start": 18, "end": 25}, "tail": {"text": "gastric cancer", "start": 32, "end": 46}}]}}, "schema": []}
{"input": "Disrupting Abca1 or Abcg1 in mice promotes accumulation of excessive cholesterol in macrophages, and physiological manipulation of ABCA1 expression affects atherogenesis.", "output": {"entities": {"gene": [{"text": "Abcg1", "start": 20, "end": 25}], "disease": [{"text": "atherogenesis", "start": 156, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings indicate that hypoxia induces NMB-R expression through a novel mechanism to regulate HIF-1 & #945; expression in breast cancer cells.", "output": {"entities": {"gene": [{"text": "NMB-R", "start": 59, "end": 64}], "disease": [{"text": "breast cancer", "start": 142, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NMB-R", "start": 59, "end": 64}, "tail": {"text": "breast cancer", "start": 142, "end": 155}}]}}, "schema": []}
{"input": "More recently, additional diseases have been linked to functionally altered variants in genes encoding for other NADPH oxidases, such as for DUOX2/DUOXA2 in congenital hypothyroidism, or for the Nox2 complex, NOX1 and DUOX2 as risk factors for inflammatory bowel disease.", "output": {"entities": {"gene": [{"text": "Nox2", "start": 195, "end": 199}], "disease": [{"text": "congenital hypothyroidism", "start": 157, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "They also demonstrate that most, if not all, patients with achondrogenesis type II/hypochondrogenesis have mutations in the COL2A1 gene.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 124, "end": 130}], "disease": [{"text": "hypochondrogenesis", "start": 83, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 124, "end": 130}, "tail": {"text": "hypochondrogenesis", "start": 83, "end": 101}}]}}, "schema": []}
{"input": "In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia.", "output": {"entities": {"gene": [{"text": "TRH", "start": 48, "end": 51}], "disease": [{"text": "bradycardia", "start": 147, "end": 158}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRH", "start": 48, "end": 51}, "tail": {"text": "bradycardia", "start": 147, "end": 158}}]}}, "schema": []}
{"input": "The WHIM-like CXCR4 (S338X) somatic mutation activates AKT and ERK, and promotes resistance to ibrutinib and other agents used in the treatment of Waldenstrom' s Macroglobulinemia.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 14, "end": 19}], "disease": [{"text": "somatic mutation", "start": 28, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The effects of thyrotropin-releasing hormone (TRH) and its analog, N-[[(3R, 6R)-6-methyl-5-oxo-thiomorpholinyl] carbonyl]-L-histidyl-L-prolinamide tetrahydrate (NS-3, CG3703) on disturbance of memory of a passive avoidance response (PAR) and an escape response in rats were investigated.", "output": {"entities": {"gene": [{"text": "PAR", "start": 233, "end": 236}], "disease": [{"text": "disturbance of memory", "start": 178, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.", "output": {"entities": {"gene": [{"text": "SMAD3", "start": 27, "end": 32}], "disease": [{"text": "aneurysms-osteoarthritis syndrome", "start": 41, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMAD3", "start": 27, "end": 32}, "tail": {"text": "aneurysms-osteoarthritis syndrome", "start": 41, "end": 74}}]}}, "schema": []}
{"input": "The aim of this study was to investigate MFAP5 localization in human AT and gene expression in adipocytes and the role of MFAP5 in adipocyte metabolism and inflammation.", "output": {"entities": {"gene": [{"text": "MFAP5", "start": 41, "end": 46}], "disease": [{"text": "inflammation", "start": 156, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "By the analysis of plasma mRNA levels, we tested the hypothesis that, in human atheroma, CTSS activation coexists with activation of CD40.", "output": {"entities": {"gene": [{"text": "CD40", "start": 133, "end": 137}], "disease": [{"text": "atheroma", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Studying a large family with multiple cases of neonatal ketoacidotic comas and isolated COX deficiency, we have mapped the disease locus to chromosome 17p13. 1, in a region encompassing two candidate genes involved in COX assembly-namely, SCO1 and COX10.", "output": {"entities": {"gene": [{"text": "SCO1", "start": 239, "end": 243}], "disease": [{"text": "COX deficiency", "start": 88, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCO1", "start": 239, "end": 243}, "tail": {"text": "COX deficiency", "start": 88, "end": 102}}]}}, "schema": []}
{"input": "Recent studies have indicated that LKB1 is related to breast tumorigenesis and breast cancer progression.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 35, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the majority of DFSP harbor the COL1A1/PDGFB translocation and FISH technique should be recommended as a routine diagnostic tool, especially in cases showing unusual histopathological subtypes and/or immunohistochemical features.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 54, "end": 59}], "disease": [{"text": "translocation", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Recent data suggest that the caudal homeobox transcription factors CDX1, CDX2, and CDX4, developmental regulators of HOX gene expression, may contribute to HOX gene dysregulation in leukemia.", "output": {"entities": {"gene": [{"text": "CDX1", "start": 67, "end": 71}], "disease": [{"text": "leukemia", "start": 182, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Levothyroxin restores hypothyroidism-induced impairment of LTP of hippocampal CA1: electrophysiological and molecular studies.", "output": {"entities": {"gene": [{"text": "CA1", "start": 78, "end": 81}], "disease": [{"text": "hypothyroidism", "start": 22, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "These studies showed that dexamethasone (Dex) induced Muc-1 expression on MM cell lines, as determined by both flow cytometry and Western blot analyses.", "output": {"entities": {"gene": [{"text": "Muc-1", "start": 54, "end": 59}], "disease": [{"text": "MM", "start": 74, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Muc-1", "start": 54, "end": 59}, "tail": {"text": "MM", "start": 74, "end": 76}}]}}, "schema": []}
{"input": "Children with prior mild malaria had higher plasma MIF levels and PBMC MIF transcripts than children with an identical number of previous episodes of severe malaria.", "output": {"entities": {"gene": [{"text": "MIF", "start": 51, "end": 54}], "disease": [{"text": "mild", "start": 20, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Recent cloning of a cold/menthol-sensitive TRPM8 channel (transient receptor potential melastatine family member 8) from rodent sensory neurons has provided the molecular basis for the cold sensation.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 43, "end": 48}], "disease": [{"text": "cold", "start": 20, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Snail is required for mesoderm and neural crest formation during embryonic development and has recently been implicated in the EMT associated with tumour progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 127, "end": 130}], "disease": [{"text": "tumour progression", "start": 147, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, intraperitoneal injection of 5-fluorouracil (5-FU) markedly inhibited the growth of the TSC-22-expressing TYS tumors, but did not affect the growth of control tumors.", "output": {"entities": {"gene": [{"text": "TYS", "start": 119, "end": 122}], "disease": [{"text": "tumors", "start": 123, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "IL-10 mRNA was not detected while IL-4 mRNA was primarily detected in naïve T-lymphocytes of patients with a mild and early lesion.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 0, "end": 5}], "disease": [{"text": "mild", "start": 109, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The ABCC6 gene was sequenced in 38 unrelated PXE Italian families. The mutation detection rate was 82. 9%.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 4, "end": 9}], "disease": [{"text": "PXE", "start": 45, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 4, "end": 9}, "tail": {"text": "PXE", "start": 45, "end": 48}}]}}, "schema": []}
{"input": "From this group, for further analysis 127 patients were selected with overt proteinuria or chronic renal failure, 335 patients with microalbuminuria, and a control group of 254 normoalbuminuric patients with a diabetes duration of at least 10 yr. No significant differences in the distribution of ACE I/D and PstI genotypes or allele frequencies were observed between the examined groups.", "output": {"entities": {"gene": [{"text": "ACE", "start": 297, "end": 300}], "disease": [{"text": "microalbuminuria", "start": 132, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that heterozygous BRCA1 inactivation results in genomic instability in nontumorigenic human breast epithelial cells in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 32, "end": 37}], "disease": [{"text": "genomic instability", "start": 62, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Functional studies will be required to determine the potential role of these newly identified genomic abnormalities in contributing to the aggressiveness of BRAF-MUT and BRAF-WT tumors.", "output": {"entities": {"gene": [{"text": "MUT", "start": 162, "end": 165}], "disease": [{"text": "abnormalities", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Aldosterone-induced upregulation of NCC, Sgk1, and ENaC likely contributes to the antinatriuretic phase of metabolic acidosis.", "output": {"entities": {"gene": [{"text": "Sgk1", "start": 41, "end": 45}], "disease": [{"text": "metabolic acidosis", "start": 107, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Notch1-Snail1-E-cadherin pathway in metastatic hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 14, "end": 24}], "disease": [{"text": "metastatic hepatocellular carcinoma", "start": 36, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Mulibrey nanism (for muscle-liver-brain-eye nanism, MUL; MIM 253250) is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene.", "output": {"entities": {"gene": [{"text": "MIM", "start": 57, "end": 60}], "disease": [{"text": "muscle-liver-brain-eye nanism", "start": 21, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Targeting inflammation by modulating the Jun/AP-1 pathway.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 45, "end": 49}], "disease": [{"text": "inflammation", "start": 10, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "To assess the role of Wee1 in development and progression of malignant melanoma we examined its expression in a panel of paraffin-embedded patient derived tissue of benign nevi and primary-and metastatic melanomas, as well as in agarose-embedded cultured melanocytes.", "output": {"entities": {"gene": [{"text": "Wee1", "start": 22, "end": 26}], "disease": [{"text": "nevi", "start": 172, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Computer-assisted quantification revealed a significant increase in A beta 42, but not A beta 40, burden in the brains from 4 PS1-FAD patients compared with those from 12 sporadic AD patients.", "output": {"entities": {"gene": [{"text": "PS1", "start": 126, "end": 129}], "disease": [{"text": "AD", "start": 131, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PS1", "start": 126, "end": 129}, "tail": {"text": "AD", "start": 131, "end": 133}}]}}, "schema": []}
{"input": "Ablation of the Chrna7: Cre cell lineage in embryos from crosses with conditionally expressed attenuated diphtheria toxin results in precise developmental defects including omphalocele (89%) and open spina bifida (SB; 80%).", "output": {"entities": {"gene": [{"text": "Chrna7", "start": 16, "end": 22}], "disease": [{"text": "open spina bifida", "start": 195, "end": 212}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Chrna7", "start": 16, "end": 22}, "tail": {"text": "open spina bifida", "start": 195, "end": 212}}]}}, "schema": []}
{"input": "Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.", "output": {"entities": {"gene": [{"text": "glycine decarboxylase", "start": 70, "end": 91}], "disease": [{"text": "nonketotic hyperglycinemia", "start": 128, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glycine decarboxylase", "start": 70, "end": 91}, "tail": {"text": "nonketotic hyperglycinemia", "start": 128, "end": 154}}]}}, "schema": []}
{"input": "Mutation of ADSL' s arginine 303 to a cysteine is known to lead to ADSL deficiency.", "output": {"entities": {"gene": [{"text": "ADSL", "start": 12, "end": 16}], "disease": [{"text": "ADSL deficiency", "start": 67, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADSL", "start": 12, "end": 16}, "tail": {"text": "ADSL deficiency", "start": 67, "end": 82}}]}}, "schema": []}
{"input": "Treatment with the three rhubarb extracts improved renal injury and dysfunction, either fully or partially reversed the plasma metabolites abnormalities and attenuated upregulation of pro-fibrotic proteins including TGF-β1, α-SMA, PAI-1, CTGF, FN and collagen-1.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 238, "end": 242}], "disease": [{"text": "abnormalities", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Rearrangements of the AML1/CBFA2 gene in myeloid leukemia with the 3; 21 translocation: in vitro and in vivo studies.", "output": {"entities": {"gene": [{"text": "CBFA2", "start": 27, "end": 32}], "disease": [{"text": "translocation", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "As a candidate regulator of the cell cycle in leukemia cells with high EVI1 expression (EVI1 (high)), we analyzed angiopoietin1 (Ang1), which is a down-regulated gene in EVI1-deficient mice and is involved in the quiescence of hematopoietic stem cells.", "output": {"entities": {"gene": [{"text": "Ang1", "start": 129, "end": 133}], "disease": [{"text": "leukemia", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Serum MIF levels were higher in severe AP patients than mild AP patients and healthy controls.", "output": {"entities": {"gene": [{"text": "MIF", "start": 6, "end": 9}], "disease": [{"text": "mild", "start": 56, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In the present study we examined the effect of promoter and coding single nucleotide polymorphisms (SNPs) in six major spindle checkpoint genes (BUB1B, BUB3, CENPE, MAD2L1, MAD2L2, TTK) on familial breast cancer (BC) risk.", "output": {"entities": {"gene": [{"text": "BUB3", "start": 152, "end": 156}], "disease": [{"text": "familial breast cancer", "start": 189, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "In this study, human CUL4A (hCUL4A) was expressed in rat pheochromocytoma (PC12) cells using adenoviral vector-mediated gene transfer, and the effects of hCUL4A expression on hypoxia-reoxygenation injury were investigated.", "output": {"entities": {"gene": [{"text": "CUL4A", "start": 21, "end": 26}], "disease": [{"text": "hypoxia", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "OGC and granulomas were frequently observed in the glandular lumens with accumulated mucus.", "output": {"entities": {"gene": [{"text": "OGC", "start": 0, "end": 3}], "disease": [{"text": "granulomas", "start": 8, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "We report a female infant with a karyotype of 46, XX, der (9) t (9; 18) (p22. 2; q21. 32) pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening.", "output": {"entities": {"gene": [{"text": "p22", "start": 73, "end": 76}], "disease": [{"text": "ectopic anus", "start": 299, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "In 3 newborns with CK > 2, 000U/l in whom DMD gene abnormalities were not found, we identified limb-girdle muscular dystrophy gene mutations affecting DYSF, SGCB, and FKRP.", "output": {"entities": {"gene": [{"text": "DYSF", "start": 151, "end": 155}], "disease": [{"text": "abnormalities", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In several large Utah kindreds with various genetic abnormalities of lipoprotein metabolism we determined that: 1) Lp (a) levels are associated with defects at the apoB gene; 2) Lp (a) levels are not associated with defects at the LDL-receptor gene; 3) high density lipoprotein (HDL) levels are associated with genetic variation at the apo (a) locus; and 4) the DNA sequence of the apoB-100 binding domain does not vary between siblings with high and low Lp (a) levels.", "output": {"entities": {"gene": [{"text": "apoB gene", "start": 164, "end": 173}], "disease": [{"text": "abnormalities", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Hyaluronan is an essential component of the ECM, and its amount is altered in many tumors, suggesting an important role for hyaluronan in tumorigenesis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 44, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities.", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 36, "end": 59}], "disease": [{"text": "generalized glucocorticoid resistance", "start": 80, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glucocorticoid receptor", "start": 36, "end": 59}, "tail": {"text": "generalized glucocorticoid resistance", "start": 80, "end": 117}}]}}, "schema": []}
{"input": "To date, no data have been reported concerning the influence of PTEN/PI3K signaling pathway on EMT in human esophageal squamous cell carcinoma (ESCC) and how TGF-β1 and PTEN/PI3K act through multiple interconnected signaling pathways to trigger events associated with EMT and tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 95, "end": 98}], "disease": [{"text": "tumor progression", "start": 276, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "According to the location of significant signals, our study indicated that exon 13-15 of CNTNAP2 may play important roles in both schizophrenia and major depression in the Han Chinese population.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 89, "end": 96}], "disease": [{"text": "major depression", "start": 148, "end": 164}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNTNAP2", "start": 89, "end": 96}, "tail": {"text": "major depression", "start": 148, "end": 164}}]}}, "schema": []}
{"input": "Furthermore, identification of a role for a 5-HT (2) receptor agonist as a cognition-enhancing agent in mutant mice suggests a potential avenue to explore for the personalized treatment of cognitive symptoms in humans with reduced 5-HT synthesis and TPH2 polymorphisms.", "output": {"entities": {"gene": [{"text": "TPH2", "start": 250, "end": 254}], "disease": [{"text": "cognitive symptoms", "start": 189, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "To test the possible role of SNPs in the coding region of the IKAP gene in atopic asthma or other atopic phenotypes in a highly homogenous Czech population, a case-control study including 373 patients and 309 healthy control subjects was performed.", "output": {"entities": {"gene": [{"text": "IKAP", "start": 62, "end": 66}], "disease": [{"text": "atopic", "start": 75, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the severity of fibrosis was positively related with artemin expression and neural alterations.", "output": {"entities": {"gene": [{"text": "artemin", "start": 66, "end": 73}], "disease": [{"text": "fibrosis", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that resveratrol inhibits the TRIF-dependent pathway through upregulation of SARM post-RSV infection.", "output": {"entities": {"gene": [{"text": "SARM", "start": 92, "end": 96}], "disease": [{"text": "RSV infection", "start": 102, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SARM", "start": 92, "end": 96}, "tail": {"text": "RSV infection", "start": 102, "end": 115}}]}}, "schema": []}
{"input": "This study was undertaken (1) to investigate the gene and protein expression of cyclooxygenase-2 (COX-2), peroxisome proliferator-activated receptor-gamma (PPARgamma), interleukin-8 (IL-8), hepatocyte growth factor (HGF), gastrin, and its receptor (CCK-2) in the Barrett' s epithelium; (2) to analyze the activity of NFkappaB in Barrett' s esophagus with low-grade dysplasia; and (3) to assess the effects of PPARgamma ligand (ciglitazone) and gastrin on cell proliferation in the cell line derived from esophageal adenocarcinoma (OE-33).", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 190, "end": 214}], "disease": [{"text": "Barrett' s epithelium", "start": 263, "end": 284}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hepatocyte growth factor", "start": 190, "end": 214}, "tail": {"text": "Barrett' s epithelium", "start": 263, "end": 284}}]}}, "schema": []}
{"input": "& lt; i & gt; Cdk6 & lt;/i & gt;-deficient cells are sensitive to drugs that interfere with the cytoskeleton, suggesting that our findings are relevant to the treatment of patients with anemia-and may be relevant to cancer patients treated with the new generation of CDK6 inhibitors.", "output": {"entities": {"gene": [{"text": "CDK6", "start": 267, "end": 271}], "disease": [{"text": "anemia", "start": 186, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDK6", "start": 267, "end": 271}, "tail": {"text": "anemia", "start": 186, "end": 192}}]}}, "schema": []}
{"input": "We evaluated the association between the presence of the GSTM1-null genotype and the combined presence of the GSTM1-null genotype/NAT2 rapid acetylator phenotype and the risk of developing sporadic colorectal cancer (CRC), as well as their interaction with environmental risk factors.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 57, "end": 62}], "disease": [{"text": "sporadic", "start": 189, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, 5-FU induced the phosphorylation of p38 mitogen-activated protein kinase (MAPK) and heat shock protein 27 (HSP27).", "output": {"entities": {"gene": [{"text": "HSP27", "start": 120, "end": 125}], "disease": [{"text": "shock", "start": 102, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.", "output": {"entities": {"gene": [{"text": "FADD", "start": 154, "end": 158}], "disease": [{"text": "ear disease", "start": 138, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "There were 41 cases of breast cancer in the MRI-screened cohort (9. 2%) and 76 cases in the comparison group (9. 2%).", "output": {"entities": {"gene": [{"text": "MRI", "start": 44, "end": 47}], "disease": [{"text": "breast cancer", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "A real-time quantitative MPXV genome amplification system was developed for the diagnosis of MPXV infections using loop-mediated isothermal amplification (LAMP) technology.", "output": {"entities": {"gene": [{"text": "LAMP", "start": 155, "end": 159}], "disease": [{"text": "infections", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We analyzed 39 SNPs in ESR1 and 5 SNPs in ESR2 in a French case-control study of sporadic AD (1007 cases/647 controls).", "output": {"entities": {"gene": [{"text": "ESR2", "start": 42, "end": 46}], "disease": [{"text": "sporadic", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of placental Hif-1α mRNA by specific siRNA significantly attenuated hallmark features of preeclampsia induced by angiotensin II type I receptor agonistic autoantibody in pregnant mice, including hypertension, proteinuria, kidney damage, impaired placental vasculature, and elevated maternal circulating soluble fms-like tyrosine kinase-1 levels.", "output": {"entities": {"gene": [{"text": "Hif-1α", "start": 23, "end": 29}], "disease": [{"text": "proteinuria", "start": 219, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "In this work, two novel exonic BCKDK mutations, c. 520C > G/p. R174G and c. 1166T > C/p. L389P, were identified at the homozygous state in two unrelated children with persistently reduced body fluid levels of branched-chain amino acids (BCAAs), developmental delay, microcephaly, and neurobehavioral abnormalities.", "output": {"entities": {"gene": [{"text": "BCKDK", "start": 31, "end": 36}], "disease": [{"text": "developmental delay", "start": 245, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "SKY confirmed 10 and refined the interpretation of three balanced aberrations recognized by G-banding and identified another nine balanced aberrations, including a novel translocation involving the RUNX1 gene.", "output": {"entities": {"gene": [{"text": "SKY", "start": 0, "end": 3}], "disease": [{"text": "translocation", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "In this study, we identified a novel RAR & #945; fusion gene, TBLR1-RAR & #945; (GenBank KF589333), in a rare case of APL with a t (3; 17) (q26; q21), t (7; 17) (q11. 2; q21) complex chromosomal rearrangement.", "output": {"entities": {"gene": [{"text": "TBLR1", "start": 62, "end": 67}], "disease": [{"text": "APL", "start": 118, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBLR1", "start": 62, "end": 67}, "tail": {"text": "APL", "start": 118, "end": 121}}]}}, "schema": []}
{"input": "Gain and loss of function determined the impact of altering SOX2 and SOX9 on cell proliferation, senescence, stem cell activity, tumorigenesis and chemoresistance.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 60, "end": 64}], "disease": [{"text": "tumorigenesis", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "IGH-BCL2 translocation was present in 84% and extra signals of BCL2 in 12% of patients.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 4, "end": 8}], "disease": [{"text": "translocation", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "To examine the association between BSG SNPs and cerebral malaria, the allele and haplotype frequencies were compared in cerebral and mild malaria patients.", "output": {"entities": {"gene": [{"text": "BSG", "start": 35, "end": 38}], "disease": [{"text": "mild", "start": 133, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The novel fusion gene and its protein HIP1-ALK harboring epsin N-terminal homology, coiled-coil, juxtamembrane, and kinase domains, which could play a role in carcinogenesis, could become diagnostic and therapeutic target of the lung adenocarcinoma and deserve a further study in the future.", "output": {"entities": {"gene": [{"text": "epsin", "start": 57, "end": 62}], "disease": [{"text": "carcinogenesis", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Nevertheless, the role of GLP-1 R variants on body weight response after dietary intervention has not been evaluated.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 26, "end": 31}], "disease": [{"text": "body weight", "start": 46, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The study describes the stress response in the central cotyledon zone of placental tissue and in maternal whole peripheral blood to pregnancy related complications including gestational hypertension (n = 31), preeclampsia w or w/o fetal growth restriction (n = 95), and fetal growth restriction (n = 39) using real-time RT-PCR and genes encoding Hsp27, Hsp60, Hsp70, Hsp90 and HspBP1 proteins.", "output": {"entities": {"gene": [{"text": "HspBP1", "start": 377, "end": 383}], "disease": [{"text": "gestational hypertension", "start": 174, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "We then used the Dual-Luciferase assay system, quantitative real-time RT-PCR (qRT-PCR), and Western blot analysis to determine that miR-218 targeted the 3'-UTR of the oncogenes CIP2A and BMI1 and thus regulated the biological process of melanoma.", "output": {"entities": {"gene": [{"text": "UTR", "start": 156, "end": 159}], "disease": [{"text": "melanoma", "start": 237, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Although we are still far from a global understanding of the molecular consequences of RAF translocation on mitochondrial physiology and metabolism, the recent description of some molecular interactions that are established by C-RAF in this organelle, principally with the proteins Bcl-2 and Bag-1, provides some clues.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 282, "end": 287}], "disease": [{"text": "translocation", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to investigate E-cadherin and beta-catenin expression in the endometrium of infertile patients with endometriosis, those with uterine fibromas, and patients with unexplained infertility.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 48, "end": 58}], "disease": [{"text": "infertile", "start": 109, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that concurrent depletion of Mbnl1 and Mbnl3 results in a synergistic enhancement of myotonia, with an increase in muscle fibers showing low chloride currents.", "output": {"entities": {"gene": [{"text": "Mbnl3", "start": 54, "end": 59}], "disease": [{"text": "myotonia", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "To investigate cyclooxygenase-2 (COX-2) expression and its relationship with mismatch repair (MMR) protein expression and microsatellite instability (MSI) in hereditary nonpolyposis colorectal cancer (HNPCC).", "output": {"entities": {"gene": [{"text": "MMR", "start": 94, "end": 97}], "disease": [{"text": "microsatellite instability", "start": 122, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Two clinically distinct phenotypes may be drawn, a mild mental retardation or a more complex and severe phenotype, according to the presence or absence of the CHRNA4 and ARFGAP1 genes respectively.", "output": {"entities": {"gene": [{"text": "ARFGAP1", "start": 170, "end": 177}], "disease": [{"text": "mild mental retardation", "start": 51, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Patients with defective IL-12/23-IFN-gamma circuit may resemble or overlap CGD manifestations of refractory cutaneous atypical mycobacterial granuloma and salmonella pneumatocele.", "output": {"entities": {"gene": [{"text": "IFN", "start": 33, "end": 36}], "disease": [{"text": "granuloma", "start": 141, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "The downregulation of Mcl-1 by Mith and RNAi increased pro-apoptotic protein Bax, resulting in the Bax translocation into mitochondria and its oligomerization.", "output": {"entities": {"gene": [{"text": "Mcl-1", "start": 22, "end": 27}], "disease": [{"text": "translocation", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The antibodies inhibited cell migration through the Gq and Rho pathway in human glioma U87-MG cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 87, "end": 90}], "disease": [{"text": "glioma", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Two single nucleotide polymorphisms (SNPs) in the CNR1 (rs2023239) and FAAH (rs324420) genes, associated previously with substance abuse and functional changes in cannabinoid regulation, were examined in a sample of daily marijuana smokers.", "output": {"entities": {"gene": [{"text": "FAAH", "start": 71, "end": 75}], "disease": [{"text": "substance abuse", "start": 121, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Patients presenting slow growth and muscle weakness that could result from a mitochondrial impairment and mental retardation should be considered for sequence analysis of the CaM KMT gene.", "output": {"entities": {"gene": [{"text": "CaM KMT", "start": 175, "end": 182}], "disease": [{"text": "muscle weakness", "start": 36, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CaM KMT", "start": 175, "end": 182}, "tail": {"text": "muscle weakness", "start": 36, "end": 51}}]}}, "schema": []}
{"input": "Specifically, increasing h-IAPP transgene expression by breeding or induction of insulin resistance leads to increased beta-cell apoptosis and diabetes.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 27, "end": 31}], "disease": [{"text": "insulin resistance", "start": 81, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We studied the role of stress-inducible genes Heme Oxygenase-1 (HO-1), HSP27, HSP40, and HSP70 in the kidney following a 4 hour period of brain death.", "output": {"entities": {"gene": [{"text": "HSP40", "start": 78, "end": 83}], "disease": [{"text": "brain death", "start": 138, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Almost 95% of these tumors are characterized by a nonrandom chromosomal abnormality, t (X; 18) (p11. 2; q11. 2), that is observed in both biphasic and monophasic variants.", "output": {"entities": {"gene": [{"text": "p11", "start": 96, "end": 99}], "disease": [{"text": "chromosomal abnormality", "start": 60, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that numerous Sp1 cis-acting sequences of the UGDH core promoter are responsible for up-and down-regulation of the gene after TGF-beta stimulation and in hypoxic conditions, respectively.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 149, "end": 157}], "disease": [{"text": "hypoxic", "start": 177, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Screening for germline MLH1, MSH2, MSH6, and PMS2 mutations was performed for all incident CRC cases recruited from cancer registries (population based probands) displaying microsatellite instability (MSI) or loss of expression of MMR genes by immunohistochemistry (IHC) and probands with CRC in multi-case families recruited from clinics (clinic based probands), regardless of MSI or IHC status.", "output": {"entities": {"gene": [{"text": "MMR", "start": 231, "end": 234}], "disease": [{"text": "microsatellite instability", "start": 173, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that PHF1 is recombined with a novel fusion partner, MEAF6 from 1p34, in an ESS carrying a t (1; 6) (p34; p21) translocation as the sole karyotypic anomaly.", "output": {"entities": {"gene": [{"text": "PHF1", "start": 19, "end": 23}], "disease": [{"text": "translocation", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Statistical analyses revealed that BChE-K carriers showed significantly less severe aberrant motor behavioral symptoms and that ε4 non-carriers showed less severe anxiety and indifference symptoms.", "output": {"entities": {"gene": [{"text": "BChE", "start": 35, "end": 39}], "disease": [{"text": "indifference", "start": 175, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Nude and severe combined immunodeficient mice were implanted with human pancreatic cancer and/or melanoma cells and the effects of C10 on tumor growth were evaluated.", "output": {"entities": {"gene": [{"text": "C10", "start": 131, "end": 134}], "disease": [{"text": "pancreatic cancer", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "TSSC3 was expressed at a low level in T-ICs, while overexpression of TSSC3 could efficiently downregulate the expression of stem cell markers Nanog, Oct4 and Sox2 in T-ICs and decrease the clone formation rate, as well as downregulate tumorigenesis in MThFOB1. 19 cells, supporting a suppressive role for TSSC3 in OS T-ICs.", "output": {"entities": {"gene": [{"text": "Sox2", "start": 158, "end": 162}], "disease": [{"text": "tumorigenesis", "start": 235, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Renal and pancreatic calcification during treatment of infantile spasms with ACTH.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 77, "end": 81}], "disease": [{"text": "calcification", "start": 21, "end": 34}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 77, "end": 81}, "tail": {"text": "calcification", "start": 21, "end": 34}}]}}, "schema": []}
{"input": "Albuminuria or microalbuminuria (albuminuria > or = 15 microg/min) showed no association with eNOS polymorphisms either per se or after accounting for the co-existing ACE I/D genetic configuration.", "output": {"entities": {"gene": [{"text": "ACE", "start": 167, "end": 170}], "disease": [{"text": "microalbuminuria", "start": 15, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "To explore the role of EGR1 in prostate tumorigenesis, we examined the impact of EGR1 expression on the androgen receptor (AR) signaling pathway.", "output": {"entities": {"gene": [{"text": "EGR1", "start": 23, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In addition, EGF (rs10029654), EGFR (rs12718939), CXCL12 (rs197452), and VCAM1 (rs3917018) genes showed an association with hand dermatitis (P & #8202; & lt; & #8202; 0. 005).", "output": {"entities": {"gene": [{"text": "CXCL12", "start": 50, "end": 56}], "disease": [{"text": "dermatitis", "start": 129, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CXCL12", "start": 50, "end": 56}, "tail": {"text": "dermatitis", "start": 129, "end": 139}}]}}, "schema": []}
{"input": "Anti-TSLP immunohistochemical staining showed preferential expression in the epithelial cells and some infiltrated cells of the giant papillae, but not in the control conjunctivae.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 5, "end": 9}], "disease": [{"text": "giant", "start": 128, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We examined the differential gene expressions of PDGF-A,-B,-C,-D, PDGF receptor alpha (PDGFR-alpha), and receptor beta (PDGFR-beta) between uterine leiomyomata and the adjacent normal myometrium.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 49, "end": 55}], "disease": [{"text": "uterine leiomyomata", "start": 140, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "To investigate the association between genetic variants of ARLTS1 and the clinical-pathological characteristics of familial OC, we identified a significantly higher proportion of serous adenocarcinoma (55/67, 82. 1%) and higher rates of advanced stage tumors (88. 1% vs 55. 6%; P = 0. 004) in ARLTS1 Cys148Arg carriers.", "output": {"entities": {"gene": [{"text": "ARLTS1", "start": 59, "end": 65}], "disease": [{"text": "serous adenocarcinoma", "start": 179, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "In situ hybridization with 35S-labelled riboprobes showed a pronounced expression of VEGF mRNA in acutely hypoxic proximal and distal tubules of both the cortex and medulla; VEGF protein was demonstrated in the epithelia of these tubules by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 85, "end": 89}], "disease": [{"text": "hypoxic", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Moreover, putative high responder HLA-DR1, DR3 and DR4 alleles were significantly (p < 0. 001) more frequent in pre-eclampsia patients (79%) than in controls (59%).", "output": {"entities": {"gene": [{"text": "DR4", "start": 51, "end": 54}], "disease": [{"text": "pre-eclampsia", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "We genotyped GSTA2_448_C > G (rs2180314), GSTA2_742_A > C (rs6577), GSTM2_-832_T > C (rs638820), GSTO1_-1242_G > A (rs2164624), GSTO1_419_A > C (rs4925), GSTO2_-183_A > G (rs2297235), GSTO2_342_A > G (rs156697), GSTZ1_-4378_A > G (rs1046428), and GSTZ1_94_G > A (rs3177427) by MALDI-TOF MS in the German GENICA breast cancer case-control collection of 1021 cases and 1015 controls and performed breast cancer risk association in general and with respect to the stratifications: menopausal status, family history of breast or ovarian cancer, use of oral contraceptives, use of hormone therapy, body mass index, and smoking as well as histopathological tumor characteristics including hormone receptor status, grade, histology, and node status.", "output": {"entities": {"gene": [{"text": "GSTO2", "start": 154, "end": 159}], "disease": [{"text": "smoking", "start": 614, "end": 621}]}, "relations": {}}, "schema": []}
{"input": "We studied the mechanisms of innate immunity to oncolytic adenovirus Ad5/3-Delta24 in conventional treatment resistant non-CIC breast cancer cells, breast cancer CD44 (+)/CD24 (-/low) CIC population and normal breast tissue CD44 (+)/CD24 (-/low) stem cells.", "output": {"entities": {"gene": [{"text": "CD44", "start": 162, "end": 166}], "disease": [{"text": "adenovirus", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Methylation of the NORE1A promoter was not observed in primary tumors and only one out of seven neuroblastoma cell lines displayed weak partial methylation.", "output": {"entities": {"gene": [{"text": "NORE1A", "start": 19, "end": 25}], "disease": [{"text": "neuroblastoma", "start": 96, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NORE1A", "start": 19, "end": 25}, "tail": {"text": "neuroblastoma", "start": 96, "end": 109}}]}}, "schema": []}
{"input": "To further define the function of Daxx, we have isolated its interacting proteins in the nucleus using epitope-tagged affinity purification and identified X-linked mental retardation and alpha-thalassaemia syndrome protein (ATRX), a putative member of the SNF2 family of ATP-dependent chromatin remodeling proteins that is mutated in several X-linked mental retardation disorders.", "output": {"entities": {"gene": [{"text": "SNF2", "start": 256, "end": 260}], "disease": [{"text": "thalassaemia syndrome", "start": 193, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Human serum specimens from previously confirmed DENV infections showed significantly enhanced positive-to-negative (P/N) ratios for NS1-MAC/GAC-ELISAs after the depletion of anti-prM/E antibodies.", "output": {"entities": {"gene": [{"text": "MAC", "start": 136, "end": 139}], "disease": [{"text": "infections", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "These results strongly implicate the cMOAT gene as responsible for the defects in DJS patients.", "output": {"entities": {"gene": [{"text": "cMOAT", "start": 37, "end": 42}], "disease": [{"text": "DJS", "start": 82, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cMOAT", "start": 37, "end": 42}, "tail": {"text": "DJS", "start": 82, "end": 85}}]}}, "schema": []}
{"input": "RT-PCR and Western blot were used to detect the expressions of SUMO-1 in HCC cell lines, clinical HCC samples, and the non-neoplastic liver tissues adjacent to HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 73, "end": 76}], "disease": [{"text": "non-neoplastic", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Based on these findings, we conclude that in addition to the previously reported role of F11R in the initiation of plaque formation, F11R plays also an important role in the subsequent growth of atherosclerotic plaques.", "output": {"entities": {"gene": [{"text": "F11R", "start": 89, "end": 93}], "disease": [{"text": "plaque", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Clinical characteristics of SUR were: history of atopy; transient, mono or oligoarticular synovitis and widespread, longlasting pain.", "output": {"entities": {"gene": [{"text": "SUR", "start": 28, "end": 31}], "disease": [{"text": "pain", "start": 128, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Importantly, Act1 deficiency in epithelial cells reduced the phenotype of allergic pulmonary inflammation due to loss of IL-17-induced neutrophilia and IL-25-induced eosinophilia, respectively.", "output": {"entities": {"gene": [{"text": "IL-25", "start": 152, "end": 157}], "disease": [{"text": "neutrophilia", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "As a sensor of proteinases, proteinase activated receptor 2 (PAR2) plays critical roles in tumorigenesis.", "output": {"entities": {"gene": [{"text": "PAR2", "start": 61, "end": 65}], "disease": [{"text": "tumorigenesis", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to confirm the occurrence of microsatellite instability (MSI) in insulinomas, to identify alterations of mismatch repair (MMR) genes in the tumors, and to evaluate the possibility to distinguish benign and malignant insulinoma or to predict the clinical outcome of patients with these alterations.", "output": {"entities": {"gene": [{"text": "MMR", "start": 140, "end": 143}], "disease": [{"text": "microsatellite instability", "start": 47, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "PAPP-A is present in unstable plaques, and circulating levels are elevated in acute coronary syndromes; these increased levels may reflect the instability of atherosclerotic plaques.", "output": {"entities": {"gene": [{"text": "PAPP-A", "start": 0, "end": 6}], "disease": [{"text": "acute coronary syndromes", "start": 78, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAPP-A", "start": 0, "end": 6}, "tail": {"text": "acute coronary syndromes", "start": 78, "end": 102}}]}}, "schema": []}
{"input": "Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion.", "output": {"entities": {"gene": [{"text": "TCF7L2", "start": 78, "end": 84}], "disease": [{"text": "adenocarcinomas", "start": 33, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TCF7L2", "start": 78, "end": 84}, "tail": {"text": "adenocarcinomas", "start": 33, "end": 48}}]}}, "schema": []}
{"input": "In kidney, the ubiquitin carboxy-terminal hydrolase 1 (UCH-L1) is involved in podocyte injury and proteinuria but details of the mechanism underlying its regulation are not known.", "output": {"entities": {"gene": [{"text": "UCH-L1", "start": 55, "end": 61}], "disease": [{"text": "proteinuria", "start": 98, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of p53 was observed only in the ameloblastic carcinoma.", "output": {"entities": {"gene": [{"text": "p53", "start": 18, "end": 21}], "disease": [{"text": "ameloblastic carcinoma", "start": 47, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Two single nucleotide polymorphisms (SNPs), Ser311Cys and TaqIA, within the DRD2 gene were genotyped by allelic discrimination PCR in subjects who had provided evidence of linkage to diabetes and obesity in an autosome-wide scan.", "output": {"entities": {"gene": [{"text": "DRD2 gene", "start": 76, "end": 85}], "disease": [{"text": "diabetes", "start": 183, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "MMPs play a critical role in the process of stromal invasion and metastasis, and these findings suggest that the association between increased Sod2 and poor prognosis in certain cancers may be attributed to elevated MMP production.", "output": {"entities": {"gene": [{"text": "Sod2", "start": 143, "end": 147}], "disease": [{"text": "metastasis", "start": 65, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Sod2", "start": 143, "end": 147}, "tail": {"text": "metastasis", "start": 65, "end": 75}}]}}, "schema": []}
{"input": "Additionally, loss of S100A2 attenuates the transcription of TGF-β/Smad3 target genes involved in tumor promotion, such as PA1-1 and vimentin.", "output": {"entities": {"gene": [{"text": "PA1", "start": 123, "end": 126}], "disease": [{"text": "tumor promotion", "start": 98, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We have reported elsewhere nine point mutations in the IVD gene in fibroblasts of patients with IVA, which lead to abnormalities in IVD protein processing and activity.", "output": {"entities": {"gene": [{"text": "IVD", "start": 55, "end": 58}], "disease": [{"text": "abnormalities", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The RT-PCR and the HRP2 RDT detected most cases of malaria during pregnancy, whereas microscopy, the Plasmodium lactate dehydrogenase RDT, and enzyme-linked immunosorbent assays for dihydrofolate reductase-thymidylate synthase and heme-detoxification protein antibodies did not detect several low-density infections.", "output": {"entities": {"gene": [{"text": "thymidylate synthase", "start": 206, "end": 226}], "disease": [{"text": "infections", "start": 305, "end": 315}]}, "relations": {}}, "schema": []}
{"input": "Natural mutations in the human glucocorticoid receptor (hGR, NR3C1) gene cause Chrousos syndrome, a rare condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids.", "output": {"entities": {"gene": [{"text": "NR3C1", "start": 61, "end": 66}], "disease": [{"text": "Chrousos syndrome", "start": 79, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NR3C1", "start": 61, "end": 66}, "tail": {"text": "Chrousos syndrome", "start": 79, "end": 96}}]}}, "schema": []}
{"input": "The effect of clozapine on CLC-4 expression was examined in neuroblastoma (SH-SY5Y) and glioma (U87) cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 96, "end": 99}], "disease": [{"text": "glioma", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In blood samples obtained, we analyzed mutations in mismatch repair (MMR) genes, as well as protein expression by immunohistochemistry and microsatellite instability (MSI) in tumour tissue.", "output": {"entities": {"gene": [{"text": "MMR", "start": 69, "end": 72}], "disease": [{"text": "microsatellite instability", "start": 139, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We found that v6v expression with special direct link of exons 10 (v6) and 14 (v10) was highly expressed in PBMC from patients with HAM/TSP and that v6v and CD4 double positive T-cell infiltration into the spinal cord lesion of HAM/TSP.", "output": {"entities": {"gene": [{"text": "TSP", "start": 136, "end": 139}], "disease": [{"text": "spinal cord lesion", "start": 206, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "These cases can either be explained by germline mosaicism or by asymptomatic carrier mothers with skewing of X-inactivation towards the wild-type MECP2 allele.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 146, "end": 151}], "disease": [{"text": "asymptomatic", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that the E. coli infection induces intestine P-gp expression, altering the absorption of orally administered enrofloxacin in broilers.", "output": {"entities": {"gene": [{"text": "P-gp", "start": 65, "end": 69}], "disease": [{"text": "E. coli infection", "start": 29, "end": 46}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P-gp", "start": 65, "end": 69}, "tail": {"text": "E. coli infection", "start": 29, "end": 46}}]}}, "schema": []}
{"input": "Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.", "output": {"entities": {"gene": [{"text": "Prodynorphin", "start": 0, "end": 12}], "disease": [{"text": "spinocerebellar ataxia type 23", "start": 60, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Prodynorphin", "start": 0, "end": 12}, "tail": {"text": "spinocerebellar ataxia type 23", "start": 60, "end": 90}}]}}, "schema": []}
{"input": "CD4/CD8 double negative mycosis fungoides with PD-1 (CD279) expression--a disease of follicular helper T-cells?", "output": {"entities": {"gene": [{"text": "CD8", "start": 4, "end": 7}], "disease": [{"text": "mycosis fungoides", "start": 24, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The genes selected for methylation analysis covered a wide range cellular processes including cell cycle control (p16), apoptosis (DAPK and RASSF1A), Wnt signaling (APC, WIF1 and RUNX3), cell-cell adhesion (E-cad), and DNA repair (MGMT and hMLH1).", "output": {"entities": {"gene": [{"text": "WIF1", "start": 170, "end": 174}], "disease": [{"text": "cad", "start": 209, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "FUT6 (rs3760776) AA genotype was present in four (4. 8%) autoimmune gastritis patients (all pernicious anaemia) and three (1. 7%) controls (p = 0. 007).", "output": {"entities": {"gene": [{"text": "FUT6", "start": 0, "end": 4}], "disease": [{"text": "autoimmune gastritis", "start": 57, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We now report that the chromatin-targeting E3 ubiquitin ligase RNF20/RNF40, driving histone H2B monoubiquitylation (H2Bub1), modulates inflammation and inflammation-associated cancer in mice and humans.", "output": {"entities": {"gene": [{"text": "RNF20", "start": 63, "end": 68}], "disease": [{"text": "inflammation", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Double labelling with alpha-CD3 and adhesion/activation markers revealed T cell subsets expressing CD49a, CD49b, CD54, and CD15, some of which were almost absent in autologous T peripheral blood lymphocytes (T-PBL).", "output": {"entities": {"gene": [{"text": "CD49a", "start": 99, "end": 104}], "disease": [{"text": "adhesion", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Reciprocal t (16; 21) (p11; q22) is a rare chromosomal abnormality in acute myeloid leukemia (AML).", "output": {"entities": {"gene": [{"text": "p11", "start": 23, "end": 26}], "disease": [{"text": "chromosomal abnormality", "start": 43, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In this study, we inoculated two forms of atypical BSE (BASE and H-type BSE), a chronic wasting disease (CWD) isolate and seven isolates of atypical scrapie into gene-targeted transgenic (Tg) mice expressing the human prion protein (PrP).", "output": {"entities": {"gene": [{"text": "BASE", "start": 56, "end": 60}], "disease": [{"text": "chronic wasting disease", "start": 80, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Association between Polymorphism of Exportin-5 and Susceptibility to Lead Poisoning in a Chinese Population.", "output": {"entities": {"gene": [{"text": "Exportin-5", "start": 36, "end": 46}], "disease": [{"text": "Lead Poisoning", "start": 69, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Exportin-5", "start": 36, "end": 46}, "tail": {"text": "Lead Poisoning", "start": 69, "end": 83}}]}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "GRIK2", "start": 40, "end": 45}], "disease": [{"text": "liver cancer", "start": 201, "end": 213}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIK2", "start": 40, "end": 45}, "tail": {"text": "liver cancer", "start": 201, "end": 213}}]}}, "schema": []}
{"input": "Because basal endoglin transcription is sustained by Sp1, and TGF-beta and hypoxia signaling pathways are mediated by Smad proteins and hypoxia-inducible factor-1 (HIF-1), respectively, the involvement of these transcription factors was analyzed.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 62, "end": 70}], "disease": [{"text": "hypoxia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Hsp60 levels correlated significantly with viral load, CD4 counts, and circulating soluble CD14 and lipopolysaccharide levels.", "output": {"entities": {"gene": [{"text": "Hsp60", "start": 0, "end": 5}], "disease": [{"text": "viral load", "start": 43, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "When dermal and synovial fibroblasts were stimulated identically by hypoxia and cytokines (TGF-beta and IL-1), synovial fibroblasts secreted four times more VEGF than did dermal fibroblasts.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 157, "end": 161}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Recently, circulating microRNAs (miRNAs) such as miR-122 and miR-192 have emerged as promising biomarkers of liver injury in preclinical species and in DILI patients.", "output": {"entities": {"gene": [{"text": "miR-122", "start": 49, "end": 56}], "disease": [{"text": "DILI", "start": 152, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-122", "start": 49, "end": 56}, "tail": {"text": "DILI", "start": 152, "end": 156}}]}}, "schema": []}
{"input": "In the autistic group, increased TBARS levels (p & lt; 0. 001) and XO (p & lt; 0. 001) and SOD (p & lt; 0. 001) activity, decreased CAT (p & lt; 0. 001) activity and unchanged ADA activity were detected.", "output": {"entities": {"gene": [{"text": "CAT", "start": 132, "end": 135}], "disease": [{"text": "autistic", "start": 7, "end": 15}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAT", "start": 132, "end": 135}, "tail": {"text": "autistic", "start": 7, "end": 15}}]}}, "schema": []}
{"input": "To determine the association of Nramp1/Slc11a1 with tuberculosis and leprosy, we analyzed using polymerase chain reaction restriction fragment length polymorphisms three variants (D543N, 3' UTR and INT4) of Nramp1/Slc11a1 gene in 58 tuberculosis patients (mean age, 34. 0 +/-13. 1), 42 leprosy patients (mean age, 35. 0 +/-14. 3) and 198 healthy controls (mean age, 32. 0 +/-12. 9) from South Sulawesi, Indonesia.", "output": {"entities": {"gene": [{"text": "INT4", "start": 198, "end": 202}], "disease": [{"text": "leprosy", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "No significant correlations were found between disease duration, erythrocyte sedimentation rate, and C-reactive protein values with either OPG or RANK-L serum levels.", "output": {"entities": {"gene": [{"text": "OPG", "start": 139, "end": 142}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 65, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We have evidence that 12-LOX increases the protein level, mRNA, and functional activity of HIF-1alpha under hypoxic conditions, one of the mechanisms by which it upregulates VEGF secretion and activity.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 174, "end": 178}], "disease": [{"text": "hypoxic", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "These results strongly suggest that the S89N polymorphism in the UTS2 gene is associated with the development of Type 2 diabetes, via insulin sensitivity, in Japanese subjects.", "output": {"entities": {"gene": [{"text": "UTS2 gene", "start": 65, "end": 74}], "disease": [{"text": "insulin sensitivity", "start": 134, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7.", "output": {"entities": {"gene": [{"text": "FOXP2", "start": 46, "end": 51}], "disease": [{"text": "SRS", "start": 89, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FOXP2", "start": 46, "end": 51}, "tail": {"text": "SRS", "start": 89, "end": 92}}]}}, "schema": []}
{"input": "After intervention with MFN2 expressing adenovirus for 3 wk, the expression of MFN2 mRNA and protein levels were up-regulated (P < 0. 01).", "output": {"entities": {"gene": [{"text": "MFN2", "start": 24, "end": 28}], "disease": [{"text": "adenovirus", "start": 40, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We also detected decreased EAAT3 transcript expression in schizophrenia and decreased EAAT4 transcript expression in major depressive disorder.", "output": {"entities": {"gene": [{"text": "EAAT4", "start": 86, "end": 91}], "disease": [{"text": "major depressive disorder", "start": 117, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EAAT4", "start": 86, "end": 91}, "tail": {"text": "major depressive disorder", "start": 117, "end": 142}}]}}, "schema": []}
{"input": "PAR1-type thrombin receptor stimulates migration and matrix adhesion of human colon carcinoma cells by a PKCepsilon-dependent mechanism.", "output": {"entities": {"gene": [{"text": "thrombin receptor", "start": 10, "end": 27}], "disease": [{"text": "adhesion", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Brain-derived neurotrophic factor/tyrosine kinase B signaling regulates human trophoblast growth in an in vivo animal model of ectopic pregnancy.", "output": {"entities": {"gene": [{"text": "Brain-derived neurotrophic factor", "start": 0, "end": 33}], "disease": [{"text": "ectopic pregnancy", "start": 127, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA.", "output": {"entities": {"gene": [{"text": "GPR64", "start": 120, "end": 125}], "disease": [{"text": "OA", "start": 242, "end": 244}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPR64", "start": 120, "end": 125}, "tail": {"text": "OA", "start": 242, "end": 244}}]}}, "schema": []}
{"input": "The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (rs2287161) associate with depressive disorder, those of RORB (rs7022435, rs3750420, rs1157358, rs3903529) and NR1D1 (rs2314339) with bipolar disorder, and those of NPAS2 (rs11541353) and CRY2 (rs10838524) with seasonal affective disorder or winter depression.", "output": {"entities": {"gene": [{"text": "CRY2", "start": 286, "end": 290}], "disease": [{"text": "bipolar disorder", "start": 232, "end": 248}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRY2", "start": 286, "end": 290}, "tail": {"text": "bipolar disorder", "start": 232, "end": 248}}]}}, "schema": []}
{"input": "With regard to the molecular mechanisms underlying drug addiction, Cav1. 3 channels are necessary for the development and Cav1. 2 channels for the expression of cocaine and amphetamine behavioural sensitisation.", "output": {"entities": {"gene": [{"text": "Cav1. 3", "start": 67, "end": 74}], "disease": [{"text": "drug addiction", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Loss of such control in response to estrogen-induced DNA damage after BRCA1 inactivation may be a key initial event that triggers genome instability and carcinogenesis.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 70, "end": 75}], "disease": [{"text": "genome instability", "start": 130, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We therefore studied the expression of UPA, UPAR, IGF2R, ALK5 (TGFBR1), TGFBR2, TGFBR3, ENG, ALK1, TGFB1, TGFB2, and TGFB3 in a series of 14 pancreatic carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "TGFB3", "start": 117, "end": 122}], "disease": [{"text": "pancreatic carcinoma", "start": 141, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In this report, novel mutations are described in three subjects with HFM: A335D/N68Kfs (c. 1004C & gt; A/c. 204-205delCC), compound heterozygous mutations, and two homozygous PCFT mutations, G338R (c. 1012G & gt; C) and E9Gfs (c. 17-18insC).", "output": {"entities": {"gene": [{"text": "PCFT", "start": 175, "end": 179}], "disease": [{"text": "HFM", "start": 69, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCFT", "start": 175, "end": 179}, "tail": {"text": "HFM", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "To test the role of SAA and APCS in MEF and MEF-amyloidosis, we studied 17 informative families (15 Armenians, 2 non-Ashkenazi Jews) and 8 MEF patients with amyloidosis using a candidate gene approach.", "output": {"entities": {"gene": [{"text": "MEF", "start": 36, "end": 39}], "disease": [{"text": "amyloidosis", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The TGF-β/ALK1/ENG signaling pathway plays a key role in iPAH and experimental hypoxic PH via a direct effect on PECs leading to production of growth factors and inflammatory cytokines involved in the pathogenesis of PAH.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 4, "end": 9}], "disease": [{"text": "hypoxic", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Quantitative reverse-transcription polymerase chain reaction analysis also showed that c-Maf was overexpressed in 8/31 cases of AILT, 0/19 cases of PTCL (U), 0/11 cases of anaplastic large cell lymphoma, 0/10 cases of extranodal NK/T-cell lymphoma, nasal type, and 2/8 cases of multiple myeloma, presenting significant difference between AILT and PTCL (U) (P = 0. 016, chi test).", "output": {"entities": {"gene": [{"text": "c-Maf", "start": 87, "end": 92}], "disease": [{"text": "large cell lymphoma", "start": 183, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Our results support the notion that particular features of the c-Myc locus select it as a preferential translocation/amplification target, compared to the endogenous N-myc locus, in Lig4/p53-deficient pro-B cell lymphomas.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 166, "end": 171}], "disease": [{"text": "translocation", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Multiple linear regression analysis after adjustment for age, BMI, and smoking revealed that a positive relationship between the amount of drinking and MCV but inverse relationships for drinking and red cell count, as well as hemoglobin and hematocrit values, were significantly stronger for men with ALDH2 * 1/2 * 2 than for those with ALDH2 * 1/2 * 1, demonstrating a gene-environment interaction.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 301, "end": 306}], "disease": [{"text": "smoking", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "To further define CYP26A1 induction mechanisms in the NB4 leukemia cells, we used RARs and RXR selective agonists.", "output": {"entities": {"gene": [{"text": "CYP26A1", "start": 18, "end": 25}], "disease": [{"text": "leukemia", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "A mutation of the p63 gene in non-syndromic cleft lip.", "output": {"entities": {"gene": [{"text": "p63", "start": 18, "end": 21}], "disease": [{"text": "cleft lip", "start": 44, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p63", "start": 18, "end": 21}, "tail": {"text": "cleft lip", "start": 44, "end": 53}}]}}, "schema": []}
{"input": "Logistic regression analysis including DRD2 genotype, FTND score, age at smoking initiation, marital status, and education as predictors showed that maximum duration of quit time was associated with FTND score (p =. 003), DRD2 genotype (p =. 01), marital status (p =. 03), and age at smoking initiation (p =. 04).", "output": {"entities": {"gene": [{"text": "DRD2", "start": 39, "end": 43}], "disease": [{"text": "smoking", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that these mutations impair the integrity and activity of this complex and that they impair cell proliferation, providing likely molecular and cellular mechanisms by which POP1 mutations cause this severe skeletal dysplasia.", "output": {"entities": {"gene": [{"text": "POP1", "start": 187, "end": 191}], "disease": [{"text": "skeletal dysplasia", "start": 220, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "The above data indicate that the absence of the GSTM1 gene is associated with a greater risk of sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "GSTM1 gene", "start": 48, "end": 58}], "disease": [{"text": "sporadic", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In the present study, inhibition of Rac2 by genetic deletion or a small-molecule inhibitor and down-regulation of mitochondrial ROS by disruption of MRC-cIII, expression of mitochondria-targeted catalase, or addition of ROS-scavenging mitochondria-targeted peptide aptamer reduced genomic instability.", "output": {"entities": {"gene": [{"text": "MRC", "start": 149, "end": 152}], "disease": [{"text": "genomic instability", "start": 281, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "However, the mechanisms underlying the regulation of VEGF expression remain virtually unknown and the only major regulator of VEGF expression has been reported to be hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 53, "end": 57}], "disease": [{"text": "hypoxia", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "However, several studies involving rodent models and human prostate cell lines and specimens have supported the contribution of the canonical PRLR-Jak2-Stat5a/b pathway to prostate cancer tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "PRLR", "start": 142, "end": 146}], "disease": [{"text": "tumorigenesis", "start": 188, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Potential genotype/phenotype correlations were examined by classifying the patients into three groups according to the CYP21 allelic combinations: A (mild/mild), B (mild/severe), and C (severe/severe).", "output": {"entities": {"gene": [{"text": "CYP21", "start": 119, "end": 124}], "disease": [{"text": "mild", "start": 150, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "This may suggest a different disease mechanism with more prominent axonal degeneration in these two types of HSP when compared with HSP due to spastin and atlastin mutations.", "output": {"entities": {"gene": [{"text": "atlastin", "start": 155, "end": 163}], "disease": [{"text": "axonal degeneration", "start": 67, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity.", "output": {"entities": {"gene": [{"text": "MFAP4", "start": 363, "end": 368}], "disease": [{"text": "head-banging", "start": 449, "end": 461}]}, "relations": {}}, "schema": []}
{"input": "The deleted in colorectal cancer (DCC) gene, a candidate tumor suppressor gene on chromosome 18q21, encodes a neural cell adhesion molecule family protein that is most highly expressed in the nervous system.", "output": {"entities": {"gene": [{"text": "neural cell adhesion molecule", "start": 110, "end": 139}], "disease": [{"text": "nervous system", "start": 192, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.", "output": {"entities": {"gene": [{"text": "PLP1", "start": 16, "end": 20}], "disease": [{"text": "Pelizaeus-Merzbacher disease", "start": 48, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLP1", "start": 16, "end": 20}, "tail": {"text": "Pelizaeus-Merzbacher disease", "start": 48, "end": 76}}]}}, "schema": []}
{"input": "Pretreatment of cells with progesterone receptor-encoding adenovirus and progestin inhibited the development of s. c. tumors in athymic mice.", "output": {"entities": {"gene": [{"text": "progesterone receptor", "start": 27, "end": 48}], "disease": [{"text": "adenovirus", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Both cell lines were stimulated with Angiotensin II and Angiotensin II receptor type 1 (At (1) R) blocker Candesartan, and gene expression of vascular endothelial growth factor (VEGF), Angiopoietin 1 and 2 (Ang-1 and Ang-2), tissue inhibitor of matrix metalloproteinases 1 (TIMP-1), and hypoxia inducible transcription factor 2alpha (HIF-2alpha) were quantified by TaqMan-Real-Time PCR analysis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 178, "end": 182}], "disease": [{"text": "hypoxia", "start": 287, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 13, "end": 23}], "disease": [{"text": "autoimmune lymphoproliferative syndrome", "start": 72, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Fas ligand", "start": 13, "end": 23}, "tail": {"text": "autoimmune lymphoproliferative syndrome", "start": 72, "end": 111}}]}}, "schema": []}
{"input": "The gene encoding beta2-AR (ADRB2) displays a moderate degree of heterogeneity in the human population and the distributions of single-nucleotide polymorphisms (SNPs) at amino acid positions 16, 27, and 164 are changed in asthma, obesity, and hypertension and in the autoimmune disease myasthenia gravis.", "output": {"entities": {"gene": [{"text": "beta2", "start": 18, "end": 23}], "disease": [{"text": "autoimmune disease", "start": 267, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that FUS mutations are the most frequent genetic cause in early-onset sporadic ALS patients of Chinese origin.", "output": {"entities": {"gene": [{"text": "FUS", "start": 25, "end": 28}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that expression of the EAATs and the EAAT regulating proteins ARHGEF11, JWA, G-protein suppressor pathway 1 (GPS1), and KIAA0302 are altered in the brain in schizophrenia.", "output": {"entities": {"gene": [{"text": "KIAA0302", "start": 136, "end": 144}], "disease": [{"text": "schizophrenia", "start": 173, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KIAA0302", "start": 136, "end": 144}, "tail": {"text": "schizophrenia", "start": 173, "end": 186}}]}}, "schema": []}
{"input": "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.", "output": {"entities": {"gene": [{"text": "LRP4", "start": 0, "end": 4}], "disease": [{"text": "Cenani-Lenz syndrome", "start": 91, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRP4", "start": 0, "end": 4}, "tail": {"text": "Cenani-Lenz syndrome", "start": 91, "end": 111}}]}}, "schema": []}
{"input": "Immunohistochemical studies of postmortem brain sections revealed decreased staining by MBP-and TAL-specific antibodies in MS plaques, indicating a concurrent loss of these antigens from demyelination sites.", "output": {"entities": {"gene": [{"text": "TAL", "start": 96, "end": 99}], "disease": [{"text": "demyelination", "start": 187, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Mfn2 protein over-expression, mediated by an adenovirus, has a significant anti-tumour effect in A548 and HT-29 cells.", "output": {"entities": {"gene": [{"text": "Mfn2", "start": 0, "end": 4}], "disease": [{"text": "adenovirus", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "A mutant SKI defective in transformation fails to increase p53 ubiquitination and is unable to increase MDM2 levels and to increase mono-sumoylation of Ubc9, suggesting that the ability of SKI to enhance Ubc9 activity is essential for its transforming function.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 104, "end": 108}], "disease": [{"text": "mono", "start": 132, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.", "output": {"entities": {"gene": [{"text": "WASP", "start": 139, "end": 143}], "disease": [{"text": "Wiskott-Aldrich syndrome", "start": 0, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WASP", "start": 139, "end": 143}, "tail": {"text": "Wiskott-Aldrich syndrome", "start": 0, "end": 24}}]}}, "schema": []}
{"input": "As a conclusion, CacyBP/SIP may play a role in cardiomyogenic differentiation and possibly protection of cardiomyocytes during hypoxia/reoxygenation injury.", "output": {"entities": {"gene": [{"text": "SIP", "start": 24, "end": 27}], "disease": [{"text": "hypoxia", "start": 127, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Comparison of REA patterns with ribotyping for 18 S. typhi isolates involved in sporadic cases of infection showed a good correlation, in that 72% of the isolates were in the same group.", "output": {"entities": {"gene": [{"text": "REA", "start": 14, "end": 17}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the role of NGAL in the tumorigenesis and progression of CRC and evaluated the clinical value of NGAL expression.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 43, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we did not observe any statistically significant interactions between GST copy number variation and exposure to indoor sources of PM in relation to respiratory symptoms and markers.", "output": {"entities": {"gene": [{"text": "GST", "start": 83, "end": 86}], "disease": [{"text": "respiratory symptoms", "start": 161, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Polymerase chain reaction analyses of DNA isolated from several endometrial carcinomas were negative for (14; 18) translocation involving the bcl-2 gene.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 142, "end": 152}], "disease": [{"text": "translocation", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Angiogenesis in pancreatic ductal adenocarcinomas depends on the presence of angiogenic factors such as vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) and is thought to be stimulated by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 140, "end": 144}], "disease": [{"text": "hypoxia", "start": 223, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, prospective studies carried out with patients that underwent biliopancreatic diversion surgery showed that subjects with high levels of GLP-1R expression in AT, which indicates a deficit of GLP-1 in this tissue, were those whose insulin sensitivity improved after surgery, suggesting the potential relationship between AT GLP-1R and insulin sensitivity amelioration in obese subjects.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 149, "end": 154}], "disease": [{"text": "insulin sensitivity", "start": 242, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Osteopetrosis is an inherited disorder of impaired bone resorption, with the most commonly affected genes being CLCN7 and TCIRG1, encoding the Cl (-)/H (+) exchanger CLC-7 and the a3 subunit of the vacuolar H (+)-ATPase, respectively.", "output": {"entities": {"gene": [{"text": "CLC-7", "start": 166, "end": 171}], "disease": [{"text": "bone resorption", "start": 51, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Darier disease (DD) (MIM 124200) is an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and by abnormal keratinization.", "output": {"entities": {"gene": [{"text": "MIM", "start": 21, "end": 24}], "disease": [{"text": "adhesion", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Patients with genotype C and GSTM1 deficiency contracted carcinoma after fewer cigarettes than those with other genotypes.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 29, "end": 34}], "disease": [{"text": "carcinoma", "start": 57, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Here, we analyzed eight probands with clinically suspected WS by whole-exome sequencing and identified three mutations: a 25. 4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c. 707G & gt; C, p. Arg236Thr) in EED (individual 2), and a missense mutation (c. 1829A & gt; T, p. Glu610Val) in SUZ12 (suppressor of zeste 12 homolog) (individual 3) inherited from her father (individual 4) with a mosaic mutation.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 160, "end": 164}], "disease": [{"text": "WS", "start": 59, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EZH2", "start": 160, "end": 164}, "tail": {"text": "WS", "start": 59, "end": 61}}]}}, "schema": []}
{"input": "However, low-frequency alterations such as EIF4G1 might participate in MEN2A-associated tumorigenesis, possibly by regulating the activity of the RET pathway.", "output": {"entities": {"gene": [{"text": "EIF4G1", "start": 43, "end": 49}], "disease": [{"text": "tumorigenesis", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Here we review recent advances in the role of ABCA1 and ABCG1 in HDL metabolism, macrophage cholesterol efflux, inflammation, and atherogenesis.", "output": {"entities": {"gene": [{"text": "ABCG1", "start": 56, "end": 61}], "disease": [{"text": "atherogenesis", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Real-time imaging with the use of biophotonic transactive response DNA-binding protein 43 transgenic mice carrying a glial fibrillary acidic protein-luciferase reporter revealed that the behavioural defects were preceded by induction of astrogliosis, a finding consistent with a role for reactive astrocytes in amyotrophic lateral sclerosis pathogenesis.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 67, "end": 86}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 311, "end": 340}]}, "relations": {}}, "schema": []}
{"input": "Thus, osteoclast formation may be determined principally by the relative ratio of OPG-L/ODF to OPG/OCIF in the bone marrow microenvironment, and alterations in this ratio may be a major cause of bone loss in many metabolic disorders, including estrogen deficiency and glucocorticoid excess.", "output": {"entities": {"gene": [{"text": "ODF", "start": 88, "end": 91}], "disease": [{"text": "metabolic disorders", "start": 213, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "The therapeutic potential of beta2-adrenergic receptor (AR) agonists in the treatment of autoimmune diseases has been reported.", "output": {"entities": {"gene": [{"text": "beta2", "start": 29, "end": 34}], "disease": [{"text": "autoimmune diseases", "start": 89, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We found that this approach reduced weight gain and improved lipid profiles in the AAVS1-mice on high-fat diet challenge.", "output": {"entities": {"gene": [{"text": "AAVS1", "start": 83, "end": 88}], "disease": [{"text": "weight gain", "start": 36, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Herein, we have tested the association of single nucleotide polymorphisms (SNPs) at TNF, IL10, MIF, DCSIGN, CLEC5A, NOD2, CCR5 and MRC1 as candidate genes using a matched case-control study design including 88 severe children cases of dengue patients and 335 healthy unrelated subjects that was also separated in IgG (+) and IgG (-) controls.", "output": {"entities": {"gene": [{"text": "MIF", "start": 95, "end": 98}], "disease": [{"text": "dengue", "start": 235, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined the NF-kappaB binding activity and the expression of the signal-transduction-related proteins of NF-kappaB in head and neck carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 31, "end": 40}], "disease": [{"text": "head and neck carcinoma", "start": 137, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Real-time reverse transcription polymerase chain reaction, in accordance with the microarray analysis, indicated that PEDF treatment caused an upregulation in the mRNA expression level of stanniocalcin 2, brain-specific angiogenesis inhibitor 2 and growth arrest, DNA-damage-inducible, alpha, and downregulation in the messenger ribonucleic acid level of fibroblast growth factor 3, teratocarcinoma-derived growth factor, neuropilin1, and endothelial Per/ARNT/Sim domain protein1, respectively.", "output": {"entities": {"gene": [{"text": "brain-specific angiogenesis inhibitor 2", "start": 205, "end": 244}], "disease": [{"text": "teratocarcinoma", "start": 383, "end": 398}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis that calstabins mutations may cause dilated cardiomyopathy in humans screening 186 patients with idiopathic dilated cardiomyopathy for genetic alterations in calstabins 1 and 2 genes (FKBP12 and FKBP12. 6).", "output": {"entities": {"gene": [{"text": "FKBP12. 6", "start": 220, "end": 229}], "disease": [{"text": "idiopathic dilated cardiomyopathy", "start": 122, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Several previous studies have demonstrated that the CDX2-negative (CDX2) and/or CK20-negative (CK20) phenotypes of colorectal cancers (CRCs) might be associated with high levels of microsatellite instability (MSI-H).", "output": {"entities": {"gene": [{"text": "CDX2", "start": 52, "end": 56}], "disease": [{"text": "microsatellite instability", "start": 181, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Moreover, hypoxia triggered a significant decrease of Notch 1 and Notch 2 mRNA and protein expression, with subsequent downregulation of Notch-mediated signaling, as shown by reduced levels of the Notch target genes, Hes1 and Hey1.", "output": {"entities": {"gene": [{"text": "Hey1", "start": 226, "end": 230}], "disease": [{"text": "hypoxia", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Cyclooxygenase 2 (Cox2), a regulator of inflammation signaling, has been found to be involved in tumorigenesis of various tumor types.", "output": {"entities": {"gene": [{"text": "Cox2", "start": 18, "end": 22}], "disease": [{"text": "tumorigenesis", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "We investigated the effect of inhibition of 11beta-HSD with glycyrrhetinic acid (GE), an effective 11beta-HSD inhibitor, on body weight regulation in obese Zucker rats, which have a defect in the leptin receptor gene.", "output": {"entities": {"gene": [{"text": "leptin receptor gene", "start": 196, "end": 216}], "disease": [{"text": "body weight", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "These studies indicate that SIRT1 serves as a negative regulator of UPR signaling in T2DM and that SIRT1 attenuates hepatic steatosis, ameliorates insulin resistance, and restores glucose homeostasis, largely through the inhibition of mTORC1 and ER stress.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 28, "end": 33}], "disease": [{"text": "hepatic steatosis", "start": 116, "end": 133}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 28, "end": 33}, "tail": {"text": "hepatic steatosis", "start": 116, "end": 133}}]}}, "schema": []}
{"input": "Among all candidate substrates, DPP4 displays highest affinity for NPY, an endogenous anxiolytic neurotransmitter that is suggested as a candidate biomarker in post-traumatic stress disorder (PTSD) and depression.", "output": {"entities": {"gene": [{"text": "DPP4", "start": 32, "end": 36}], "disease": [{"text": "depression", "start": 202, "end": 212}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPP4", "start": 32, "end": 36}, "tail": {"text": "depression", "start": 202, "end": 212}}]}}, "schema": []}
{"input": "The above results suggest that the overexpression of DNMT1 in the BLA is responsible for the etiology of anxiety associated with BPA exposure via GABAergic disinhibition.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 53, "end": 58}], "disease": [{"text": "anxiety", "start": 105, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNMT1", "start": 53, "end": 58}, "tail": {"text": "anxiety", "start": 105, "end": 112}}]}}, "schema": []}
{"input": "Here the EGFR tyrosine kinase inhibitor PKI166 and EGFR blocking antibody C225, both of which are used clinically to treat head and neck cancers, were used to determine the effects of EGFR inhibition on intercellular junction assembly and adhesion in oral squamous cell carcinoma cells.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 9, "end": 13}], "disease": [{"text": "adhesion", "start": 239, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "The results of increased H1R and H2R expression in complicated sigmoid diverticulitis were also detected on mRNA level in a subset of patients (RT-PCR, p = 0. 009).", "output": {"entities": {"gene": [{"text": "H1R", "start": 25, "end": 28}], "disease": [{"text": "diverticulitis", "start": 71, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Five distinct partners of IGlambda translocation were identified by SKY analysis: 3q27 in three patients, and 1p13, 6p25, 17p11. 2 and 17q21 in one patient each.", "output": {"entities": {"gene": [{"text": "SKY", "start": 68, "end": 71}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the gene encoding CAV-1 plays an important role in the promotion of mammary tumorigenesis in Kashmir.", "output": {"entities": {"gene": [{"text": "CAV", "start": 35, "end": 38}], "disease": [{"text": "mammary tumorigenesis", "start": 85, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found that hsa-miR491-5p (miR491-5p) displays a significantly high level of expression in normal human pancreas tissue versus pancreatic cancer cells.", "output": {"entities": {"gene": [{"text": "miR491", "start": 33, "end": 39}], "disease": [{"text": "pancreatic cancer", "start": 144, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "The RaSH approach identified differential expression of Annexin A1 (ANXA1), p16, RPL6, PBEF1 and KIAA1033 in high-risk HPV positive penile carcinoma; ANXA1 and p16 were overexpressed in penile squamous cells positive for high-risk HPVs compared to normal penile samples by qPCR.", "output": {"entities": {"gene": [{"text": "PBEF1", "start": 87, "end": 92}], "disease": [{"text": "penile carcinoma", "start": 132, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.", "output": {"entities": {"gene": [{"text": "Dysferlin", "start": 0, "end": 9}], "disease": [{"text": "Miyoshi myopathy", "start": 99, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Dysferlin", "start": 0, "end": 9}, "tail": {"text": "Miyoshi myopathy", "start": 99, "end": 115}}]}}, "schema": []}
{"input": "Conditional ablation of Supv3L1 in keratinocytes confirmed atrophic changes in the skin and ichthyosis-like changes.", "output": {"entities": {"gene": [{"text": "Supv3L1", "start": 24, "end": 31}], "disease": [{"text": "ichthyosis", "start": 92, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Supv3L1", "start": 24, "end": 31}, "tail": {"text": "ichthyosis", "start": 92, "end": 102}}]}}, "schema": []}
{"input": "The molecular structure of exon 7 of the ATP7B gene from 141 WD patients was analyzed.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 41, "end": 46}], "disease": [{"text": "WD", "start": 61, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 41, "end": 46}, "tail": {"text": "WD", "start": 61, "end": 63}}]}}, "schema": []}
{"input": "LD mapping showed nominally significant association in NTRK3, FLJ12484, RHCG, DKFZp547K1113, VPS33B, SV2B, SLCO3A1, RGMA, and MCTP2 with MDD-RE.", "output": {"entities": {"gene": [{"text": "MCTP2", "start": 126, "end": 131}], "disease": [{"text": "MDD-RE", "start": 137, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCTP2", "start": 126, "end": 131}, "tail": {"text": "MDD-RE", "start": 137, "end": 143}}]}}, "schema": []}
{"input": "MUC1 is a counter-receptor for myelin-associated glycoprotein (Siglec-4a) and their interaction contributes to adhesion in pancreatic cancer perineural invasion.", "output": {"entities": {"gene": [{"text": "Siglec-4a", "start": 63, "end": 72}], "disease": [{"text": "adhesion", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We previously demonstrated that a mutation in the 5' untranslated region of Diaphanous homolog 3 (DIAPH3) results in 2 to 3-fold overexpression of the gene, leading to a form of delayed onset, progressive human deafness known as AUNA1 (auditory neuropathy, nonsyndromic, autosomal dominant, 1).", "output": {"entities": {"gene": [{"text": "DIAPH3", "start": 98, "end": 104}], "disease": [{"text": "deafness", "start": 211, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "We hypothesised that this increase in motility displayed by the hK4 and PSA-expressing PC-3 cells may be related to the observed change in structure in these cells from a typical rounded epithelial-like cell to a spindle-shaped, more mesenchymal-like cell, with compromised adhesion to the culture surface.", "output": {"entities": {"gene": [{"text": "hK4", "start": 64, "end": 67}], "disease": [{"text": "adhesion", "start": 274, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Mutations in MRAP, an interacting partner of the ACTH receptor, have been shown recently to cause familial glucocorticoid deficiency (FGD) in kindreds with confirmed FGD and no ACTH receptor mutations.", "output": {"entities": {"gene": [{"text": "MRAP", "start": 13, "end": 17}], "disease": [{"text": "familial glucocorticoid deficiency", "start": 98, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "p38 activation by both adenovirus-mediated gene delivery of constitutively active p38 activator MKK6 and by arsenite selectively induces cell death in K-ras-activated human colon cancer HCT116 cells but not in the K-ras-disrupted HCT116-derived sublines.", "output": {"entities": {"gene": [{"text": "p38", "start": 0, "end": 3}], "disease": [{"text": "adenovirus", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to determine the CDKN1B V109G polymorphism frequency in the low incidence Taiwanese population and investigate its potential role on prostate cancer susceptibility and disease progression.", "output": {"entities": {"gene": [{"text": "CDKN1B", "start": 43, "end": 49}], "disease": [{"text": "prostate cancer susceptibility", "start": 159, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.", "output": {"entities": {"gene": [{"text": "TBX20", "start": 19, "end": 24}], "disease": [{"text": "patent foramen ovale", "start": 75, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX20", "start": 19, "end": 24}, "tail": {"text": "patent foramen ovale", "start": 75, "end": 95}}]}}, "schema": []}
{"input": "One copy of the gene for p27kip1 (KIP1), involved in cell cycle entrance, was found to be lost in all cases in which deletions could be detected by other probes and in one case with a translocation as the only detectable change.", "output": {"entities": {"gene": [{"text": "KIP1", "start": 34, "end": 38}], "disease": [{"text": "translocation", "start": 184, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "All mutations identified were heterozygous amino acid substitutions or small in-frame deletion mutations with the exception of an unusual mutation in a sporadic case of PC-1.", "output": {"entities": {"gene": [{"text": "PC-1", "start": 169, "end": 173}], "disease": [{"text": "sporadic", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Forty-six months later the patient suffered a blast crisis characterized by absolute basophilia; the cytogenetic study demonstrated 48, XY, + 8, t (9; 22) (q34; q11), + der (22) t (9; 22) (q34; q11), + i (17) (q10) in 18% of the mitoses, 46, XY, t (9; 22) (q34; q11) in 34% and hyperdiploidy in 23%.", "output": {"entities": {"gene": [{"text": "q10", "start": 210, "end": 213}], "disease": [{"text": "blast crisis", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Using the yeast two-hybrid system with fragments of human BRCA2, we identified an interaction with the human DSS1 (deleted in split hand/split foot) gene.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 58, "end": 63}], "disease": [{"text": "split foot", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In the villi with characteristic hypoxic/ischemic changes (HIC), including increased syncytial knots, infarction, or hypercapillarization, intense immunostaining for VEGF was detected in the media of blood vessels, and increased staining for KDR was demonstrated in the endothelial cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 166, "end": 170}], "disease": [{"text": "infarction", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.", "output": {"entities": {"gene": [{"text": "neural cell-adhesion molecule L1", "start": 15, "end": 47}], "disease": [{"text": "MASA syndrome", "start": 89, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "neural cell-adhesion molecule L1", "start": 15, "end": 47}, "tail": {"text": "MASA syndrome", "start": 89, "end": 102}}]}}, "schema": []}
{"input": "A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR-125b-2, let-7c and miR-99a.", "output": {"entities": {"gene": [{"text": "miR-125b-2", "start": 83, "end": 93}], "disease": [{"text": "down syndrome", "start": 40, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-125b-2", "start": 83, "end": 93}, "tail": {"text": "down syndrome", "start": 40, "end": 53}}]}}, "schema": []}
{"input": "Survival as it relates to p16 overexpression and MIB-1 (Ki-67) proliferation in primary squamous cell vaginal carcinoma was studied.", "output": {"entities": {"gene": [{"text": "MIB-1", "start": 49, "end": 54}], "disease": [{"text": "vaginal carcinoma", "start": 102, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In all xenografts, disruption of VEGF led to marked expansion of the hypoxic compartments and growth delay.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 33, "end": 37}], "disease": [{"text": "hypoxic", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In KSHV-infected effusion lymphoma lines, K10. 5/vIRF3 and K11/vIRF2 mRNAs are readily detected during latency, whereas K9/vIRF1 and K10/vIRF4 mRNAs are upregulated during reactivation.", "output": {"entities": {"gene": [{"text": "K10", "start": 42, "end": 45}], "disease": [{"text": "lymphoma", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The genetic complexity of HVR1, together with viral load and the anti-HCV IgM titer, are independent predictors of a sustained virological response to IFN alfa in patients with chronic hepatitis.", "output": {"entities": {"gene": [{"text": "HVR1", "start": 26, "end": 30}], "disease": [{"text": "viral load", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Multivariate regression modelling was applied to assess the association of T4 dosing with polymorphisms in UGT1A1 (rs8175347), UGT1A3 (rs3806596 and rs1983023), DIO1 (rs11206244 and rs2235544) and DIO2 (rs225014 and rs12885300), demographic and clinical variables.", "output": {"entities": {"gene": [{"text": "DIO2", "start": 197, "end": 201}], "disease": [{"text": "regression", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Homozygous PVRL1 loss-of-function mutations result in an autosomal recessive CL/P syndrome, CLPED1, and a PVRL1 nonsense mutation is associated with sporadic nsCL/P in Northern Venezuela.", "output": {"entities": {"gene": [{"text": "PVRL1", "start": 11, "end": 16}], "disease": [{"text": "sporadic", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "A novel human multiple myeloma-derived cell line, NCU-MM-1, carrying t (2; 11) (q11; q23) and t (8; 22) (q24; q11) chromosomal translocations with overexpression of c-Myc protein.", "output": {"entities": {"gene": [{"text": "MM-1", "start": 54, "end": 58}], "disease": [{"text": "multiple myeloma", "start": 14, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "The involvement of these cells in cCSNB and the specific function of GPR179 remain to be elucidated.", "output": {"entities": {"gene": [{"text": "GPR179", "start": 69, "end": 75}], "disease": [{"text": "CSNB", "start": 35, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPR179", "start": 69, "end": 75}, "tail": {"text": "CSNB", "start": 35, "end": 39}}]}}, "schema": []}
{"input": "Smith-Lemli-Opitz syndrome (MIM 270400) is an autosomal recessive malformation and mental retardation syndrome that ranges in clinical severity from minimal dysmorphism and mild mental retardation to severe congenital anomalies and intrauterine death.", "output": {"entities": {"gene": [{"text": "MIM", "start": 28, "end": 31}], "disease": [{"text": "mild mental retardation", "start": 173, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "MEL exposure modulated the mitotic and apoptotic indices in the colonic adenocarcinomas that developed and lowered the immunohistochemical expression of nuclear factor kappa B, tumor necrosis factor alpha, interleukin-1beta and STAT3 in the epithelial malignancies.", "output": {"entities": {"gene": [{"text": "interleukin-1beta", "start": 206, "end": 223}], "disease": [{"text": "adenocarcinomas", "start": 72, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-1beta", "start": 206, "end": 223}, "tail": {"text": "adenocarcinomas", "start": 72, "end": 87}}]}}, "schema": []}
{"input": "These results indicate an essential role for iPLA2 in cell cycle progression and tumorigenesis of ovarian carcinoma cells.", "output": {"entities": {"gene": [{"text": "iPLA2", "start": 45, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "This study investigated genes involved in the regulation of neuroplasticity (BDNF, ST8SIA2), second messenger cascades (GSK3B, MAPK1, and CREB1), circadian rhythms (RORA), transcription (SP4, ZNF804A), and monoaminergic system (HTR2A and COMT) in the risk of neurological, psychic, autonomic, and other ADRs.", "output": {"entities": {"gene": [{"text": "RORA", "start": 165, "end": 169}], "disease": [{"text": "circadian rhythms", "start": 146, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Nine of 50 MS patients became hypomanic or manic during treatment with ACTH or prednisone.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 71, "end": 75}], "disease": [{"text": "MS", "start": 11, "end": 13}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 71, "end": 75}, "tail": {"text": "MS", "start": 11, "end": 13}}]}}, "schema": []}
{"input": "To determine whether endogenous IL-15 is involved in activation of i-IEL during intestinal infection, we examined IL-15 synthesis by intestinal epithelial cells (i-EC) after infection with Listeria monocytogenes in rats.", "output": {"entities": {"gene": [{"text": "IL-15", "start": 32, "end": 37}], "disease": [{"text": "intestinal infection", "start": 80, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Astemizole in the treatment of granulocyte colony-stimulating factor-induced bone pain.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 31, "end": 68}], "disease": [{"text": "pain", "start": 82, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 31, "end": 68}, "tail": {"text": "pain", "start": 82, "end": 86}}]}}, "schema": []}
{"input": "Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.", "output": {"entities": {"gene": [{"text": "DNAJB13", "start": 13, "end": 20}], "disease": [{"text": "Primary Ciliary Dyskinesia", "start": 61, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNAJB13", "start": 13, "end": 20}, "tail": {"text": "Primary Ciliary Dyskinesia", "start": 61, "end": 87}}]}}, "schema": []}
{"input": "Genes for sonic hedgehog (SHH), TNF-receptor-associated-factor 3 (TRAF3), rhoGTP-ase-activating protein 4 (ARHGAP4), deleted in colorectal carcinoma (DCC), cadherins 12 and 13 (CDH12 and 13), teratocarcinoma-derived growth-factor-1 (TDGF1), and transforming growth-factor-beta1 (TGFB1) were underexpressed in all tumors.", "output": {"entities": {"gene": [{"text": "SHH", "start": 26, "end": 29}], "disease": [{"text": "teratocarcinoma", "start": 192, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "This study investigated the efficacy and safety of vorinostat, a deacetylase (HDAC) inhibitor, in the treatment of laser-induced corneal haze following photorefractive keratectomy (PRK) in rabbits in vivo and transforming growth factor beta 1 (TGFβ1)-induced corneal fibrosis in vitro.", "output": {"entities": {"gene": [{"text": "PRK", "start": 181, "end": 184}], "disease": [{"text": "corneal haze", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Although a number of significant associations were determined in both the total group and in the nevirapine (NVP) exposed group, the most significant findings involved KIR2DL2 and KIR2DL3 and HLA-C. KIR2DL2/KIR2DL3 was underrepresented in intrapartum (IP)-transmitting mothers compared to non-transmitting (NT) mothers (P = 0. 008) and remained significant (P = 0. 036) after correction for maternal viral load (MVL).", "output": {"entities": {"gene": [{"text": "KIR2DL2", "start": 168, "end": 175}], "disease": [{"text": "viral load", "start": 400, "end": 410}]}, "relations": {}}, "schema": []}
{"input": "Clinical trials are revealing aspects of HPP pathophysiology not yet fully understood, such as craniosynostosis and muscle weakness when HPP is severe.", "output": {"entities": {"gene": [{"text": "HPP", "start": 41, "end": 44}], "disease": [{"text": "craniosynostosis", "start": 95, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aimed to explore the impact of DNA methylation profile in BCL2/E1B adenovirus interacting protein 3 (BNIP3), extracellular superoxide dismutase (EC-SOD) and glutathione-S-transferase P1 (GSTP1) on the oxidative stress in CAD.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 119, "end": 124}], "disease": [{"text": "adenovirus", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "This study confirms that defects in the ORNT1 gene cause the HHH syndrome and that the genetic basis in Japanese patients is heterogeneous.", "output": {"entities": {"gene": [{"text": "ORNT1", "start": 40, "end": 45}], "disease": [{"text": "HHH syndrome", "start": 61, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ORNT1", "start": 40, "end": 45}, "tail": {"text": "HHH syndrome", "start": 61, "end": 73}}]}}, "schema": []}
{"input": "Wnt4, in turn, acts through the noncanonical pathway to activate epithelial cell remodeling and IL8 gene expression, leading to neutrophil infiltration and inflammation.", "output": {"entities": {"gene": [{"text": "Wnt4", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 156, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds.", "output": {"entities": {"gene": [{"text": "ESCO2", "start": 45, "end": 50}], "disease": [{"text": "Roberts syndrome", "start": 68, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ESCO2", "start": 45, "end": 50}, "tail": {"text": "Roberts syndrome", "start": 68, "end": 84}}]}}, "schema": []}
{"input": "In view of these findings it is conceivable as one of possibilities that a mild and small mutation in the structural or promotor region of the P450c21 gene may cause the decreased 21-hydroxylase activity in this adenoma.", "output": {"entities": {"gene": [{"text": "P450c21", "start": 143, "end": 150}], "disease": [{"text": "mild", "start": 75, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "TIL/PBMC were stimulated with peptides (gp100209, gp100pool, MART-127-35, or influenza-M1 and negative control peptide HIV) to further assess assay performance characteristics for real time RT-PCR and ELISPOT methods.", "output": {"entities": {"gene": [{"text": "TIL", "start": 0, "end": 3}], "disease": [{"text": "influenza", "start": 77, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Exogenous VEGF, directly administered or overexpressed by gene delivery into rat brains, reduces ischemic brain infarct and decreases hypoxic neuronal death.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 10, "end": 14}], "disease": [{"text": "hypoxic", "start": 134, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "In summary, our findings show direct anti-inflammatory activity of MKP5 in prostate cells and suggest that up-regulation of MKP5 by phytochemicals may contribute to their chemopreventive actions by decreasing prostatic inflammation.", "output": {"entities": {"gene": [{"text": "MKP5", "start": 67, "end": 71}], "disease": [{"text": "inflammation", "start": 219, "end": 231}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MKP5", "start": 67, "end": 71}, "tail": {"text": "inflammation", "start": 219, "end": 231}}]}}, "schema": []}
{"input": "Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutation in TRPV3 that produces p. Gly573Ser in an individual with OS.", "output": {"entities": {"gene": [{"text": "TRPV3", "start": 102, "end": 107}], "disease": [{"text": "OS", "start": 157, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPV3", "start": 102, "end": 107}, "tail": {"text": "OS", "start": 157, "end": 159}}]}}, "schema": []}
{"input": "In addition, we report that the treatment of at least two human prostate cancer cell lines with the DNA methylation inhibitor 5-aza-2'-deoxycytidine induced the expression of SSX-2.", "output": {"entities": {"gene": [{"text": "SSX-2", "start": 175, "end": 180}], "disease": [{"text": "prostate cancer", "start": 64, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SSX-2", "start": 175, "end": 180}, "tail": {"text": "prostate cancer", "start": 64, "end": 79}}]}}, "schema": []}
{"input": "Cross-sectional studies disclosed a marked increase of miR-140-5p, miR-142-3p, and miR-222 and decreased miR-423-5p, miR-125b, miR-192, miR-195, miR-130b, miR-532-5p, and miR-126 in T2D patients.", "output": {"entities": {"gene": [{"text": "miR-532", "start": 155, "end": 162}], "disease": [{"text": "T2D", "start": 182, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-532", "start": 155, "end": 162}, "tail": {"text": "T2D", "start": 182, "end": 185}}]}}, "schema": []}
{"input": "For example, a recent study suggested that one cannot adequately impute the HOXB13 G84E mutation associated with prostate cancer risk (carrier frequency of 0. 0034 in European ancestry participants in the 1000 Genomes Project).", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 76, "end": 82}], "disease": [{"text": "prostate cancer", "start": 113, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXB13", "start": 76, "end": 82}, "tail": {"text": "prostate cancer", "start": 113, "end": 128}}]}}, "schema": []}
{"input": "Depletion of Ccdc28b in zebrafish results in defective ciliogenesis and consequently causes a number of phenotypes that are characteristic of BBS and other ciliopathy mutants including hydrocephalus, left-right axis determination defects and renal function impairment.", "output": {"entities": {"gene": [{"text": "Ccdc28b", "start": 13, "end": 20}], "disease": [{"text": "ciliopathy", "start": 156, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ccdc28b", "start": 13, "end": 20}, "tail": {"text": "ciliopathy", "start": 156, "end": 166}}]}}, "schema": []}
{"input": "This protection was associated with decreased myelin oligodendrocyte glycoprotein-specific T-cell activation by primed DCs, decreased circulating autoantibodies, attenuated inflammation within the CNS, and increased Foxp3 (+) regulatory T cells in the periphery and in the CNS.", "output": {"entities": {"gene": [{"text": "myelin oligodendrocyte glycoprotein", "start": 46, "end": 81}], "disease": [{"text": "inflammation", "start": 173, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Investigation of functional relationships between the eight fine-mapped genes using Ingenuity Pathway Analysis identified a single functional network (p = 10 (-13)) containing five fine-mapped genes-LNX1, CAMK2D, ZFHX3, CSMD1, and TCP1-with functional relationships potentially related to inflammation, apoptosis, and cardiovascular pathology.", "output": {"entities": {"gene": [{"text": "LNX1", "start": 199, "end": 203}], "disease": [{"text": "inflammation", "start": 289, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "The more seriously affected patient had shorter height (125 cm), atlantoaxial instability associated with os odontoideum, flat feet, and cleft palate, absence of the femoral head on radiographic and magnetic resonance imaging (MRI), and dislocated proximal femur.", "output": {"entities": {"gene": [{"text": "MRI", "start": 227, "end": 230}], "disease": [{"text": "atlantoaxial instability", "start": 65, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The remaining 9 findings implied possible associations between phosphatidylethanolamine N-methyltransferase (PEMT) gene and total cholesterol; USP46, RAP1GDS1, and ZCCHC16 genes and triglycerides; BCAT1 and SLC14A2 genes and albumin; and NR3C2, GRIK2, and PCSK2 genes and fibrinogen.", "output": {"entities": {"gene": [{"text": "GRIK2", "start": 245, "end": 250}], "disease": [{"text": "fibrinogen", "start": 272, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "TRMT11", "start": 33, "end": 39}], "disease": [{"text": "ovarian cancer", "start": 182, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRMT11", "start": 33, "end": 39}, "tail": {"text": "ovarian cancer", "start": 182, "end": 196}}]}}, "schema": []}
{"input": "docosahexaenoic acid (DHA), eicosapentaenoic acid, uridine-mono-phosphate (UMP), choline, phospholipids, folic acid, vitamins B6, B12, C, E, and selenium.", "output": {"entities": {"gene": [{"text": "B12", "start": 130, "end": 133}], "disease": [{"text": "mono", "start": 59, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "This study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome.", "output": {"entities": {"gene": [{"text": "ATP1A3", "start": 45, "end": 51}], "disease": [{"text": "CAPOS syndrome", "start": 61, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP1A3", "start": 45, "end": 51}, "tail": {"text": "CAPOS syndrome", "start": 61, "end": 75}}]}}, "schema": []}
{"input": "VEGF synthesis is modulated by hypoxia-inducible factor-1 (HIF-1) function within the hypoxic microenvironment of growing cancer tissue.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The present study specifically re-examines the potential modification of the association between alcohol consumption and CHD by the CETP TaqIB (rs708272) polymorphism in a sample including both men and women.", "output": {"entities": {"gene": [{"text": "CETP", "start": 132, "end": 136}], "disease": [{"text": "alcohol consumption", "start": 97, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The AChE membrane-binding tail PRiMA is down-regulated in muscle and nerve of mice with muscular dystrophy by merosin deficiency.", "output": {"entities": {"gene": [{"text": "PRiMA", "start": 31, "end": 36}], "disease": [{"text": "muscular dystrophy", "start": 88, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRiMA", "start": 31, "end": 36}, "tail": {"text": "muscular dystrophy", "start": 88, "end": 106}}]}}, "schema": []}
{"input": "AAT deficiency is a genetic disease that manifests with emphysema and liver cirrhosis due to the accumulation of a misfolded AAT mutant in hepatocytes.", "output": {"entities": {"gene": [{"text": "AAT", "start": 0, "end": 3}], "disease": [{"text": "emphysema", "start": 56, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AAT", "start": 0, "end": 3}, "tail": {"text": "emphysema", "start": 56, "end": 65}}]}}, "schema": []}
{"input": "Using the Hereditary Hearing Loss arrayed primer extension (APEX) array, which contains 198 mutations across 8 hearing loss-associated genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5, 12S-rRNA, and tRNA Ser), we compared the frequency of sequence variants in 94 individuals with early presbycusis to 50 unaffected controls and aimed to identify possible genetic contributors.", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 166, "end": 173}], "disease": [{"text": "presbycusis", "start": 285, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "Frequency of HLA A2, A9, A24 (9), A25, A69 (28), B12, B22, B38, B49 (21), DR4, and DR14 antigens were significantly higher, and frequencies of HLA B7 and DR7 were significantly less in sarcoidosis patients.", "output": {"entities": {"gene": [{"text": "DR4", "start": 74, "end": 77}], "disease": [{"text": "sarcoidosis", "start": 185, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "It is concluded that upregulated ERalpha in prostatic stroma may have a greater modulating influence on synthesis of certain growth factors than the direct action of androgens and, by enhancing synthesis of FGF-2 and FGF-7, could play a significant role in the development of BPH.", "output": {"entities": {"gene": [{"text": "FGF-7", "start": 217, "end": 222}], "disease": [{"text": "BPH", "start": 276, "end": 279}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF-7", "start": 217, "end": 222}, "tail": {"text": "BPH", "start": 276, "end": 279}}]}}, "schema": []}
{"input": "In infertile women, a positive association was found between BPA and MEHP levels and ER α, ER β, AR, AhR, and PXR expression.", "output": {"entities": {"gene": [{"text": "PXR", "start": 110, "end": 113}], "disease": [{"text": "infertile", "start": 3, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "To clarify the reason for the difference in incidence of follicular lymphoma between whites and Japanese, the frequency of BCL-2/J (H) translocation in peripheral blood lymphocytes of healthy Japanese individuals was compared with that of German individuals.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 123, "end": 128}], "disease": [{"text": "translocation", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "These data define a link between inflammation and EMT, processes involved in the malignant transformation of cells caused by CSE.", "output": {"entities": {"gene": [{"text": "CSE", "start": 125, "end": 128}], "disease": [{"text": "inflammation", "start": 33, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Anaplastic lymphoma kinase (ALK), physiologically expressed only by nervous system cells, displays a remarkable capacity to transform CD4 (+) T lymphocytes and other types of nonneural cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 134, "end": 137}], "disease": [{"text": "nervous system", "start": 68, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Gene expression profile (GEP)-based classification of colonic diseases is a new method for diagnostic purposes.", "output": {"entities": {"gene": [{"text": "GEP", "start": 25, "end": 28}], "disease": [{"text": "colonic diseases", "start": 54, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "UCP2 (-/-) mice exhibited pulmonary vascular remodeling and mild PH compared with wild-type (WT) mice.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 0, "end": 4}], "disease": [{"text": "mild", "start": 60, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "When exposed to hypoxic conditions, prostate carcinoma cells overexpressing bcl-2 expressed statistically significantly higher levels of vascular endothelial growth factor (VEGF), an angiogenic factor, than control-transfected cells (P =. 001 for PC3, P =. 04 for DU-145 after 48 hours).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 173, "end": 177}], "disease": [{"text": "hypoxic", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31. 1 in ovarian (P = 4. 95 & #215; 10 (-4), false discovery rate (FDR) = 0. 003) and colorectal (P = 0. 01, FDR = 0. 09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0. 03, FDR = 0. 09).", "output": {"entities": {"gene": [{"text": "PAX8", "start": 234, "end": 238}], "disease": [{"text": "colorectal tumors", "start": 250, "end": 267}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAX8", "start": 234, "end": 238}, "tail": {"text": "colorectal tumors", "start": 250, "end": 267}}]}}, "schema": []}
{"input": "FMNL2 messenger RNA was targeted by miR-137; expression of miR-137 inhibited proliferation and invasion by CRC cells in vitro, and metastasis to liver and intestine by CRC xenografts in nude mice.", "output": {"entities": {"gene": [{"text": "FMNL2", "start": 0, "end": 5}], "disease": [{"text": "metastasis to liver", "start": 131, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that hypoxic conditions induce miR-155 expression in lung cancer cells and trigger a corresponding decrease in a validated target, FOXO3A.", "output": {"entities": {"gene": [{"text": "FOXO3A", "start": 145, "end": 151}], "disease": [{"text": "hypoxic", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance.", "output": {"entities": {"gene": [{"text": "TPM3", "start": 93, "end": 97}], "disease": [{"text": "CFTD", "start": 58, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPM3", "start": 93, "end": 97}, "tail": {"text": "CFTD", "start": 58, "end": 62}}]}}, "schema": []}
{"input": "Although there were no significant differences in the allele or genotype distributions among patients with different grades of goiter in GD and healthy controls, the distribution of the C allele, especially C/C genotype, of the rs755622 single nucleotide polymorphism (SNP) in MIF, may be as a risk factor for goiter initiation whereas a protector against development of severe goiter in patients with untreated GD (p < 0. 05).", "output": {"entities": {"gene": [{"text": "MIF", "start": 277, "end": 280}], "disease": [{"text": "goiter", "start": 127, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "It is worth noting that the metabolism of gefitinib in the sensitive cells is a consequence and not the cause of drug responsiveness, indeed treatment with a CYP1A1 inhibitor increased the efficacy of the drug because it prevented the fall in intracellular gefitinib level and significantly enhanced the inhibition of EGFR autophosphorylation, MAPK and PI3K/AKT/mTOR signalling pathways and cell proliferation.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 158, "end": 164}], "disease": [{"text": "fall", "start": 235, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Thus, RBP4 and PLAC8 may become new therapeutic targets for prostate cancer bone metastasis, in combination with OPG/RANKL/RANK pathway inhibition.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 6, "end": 10}], "disease": [{"text": "prostate cancer", "start": 60, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The aim of this review is to evaluate the evidence for BRCA1 dysfunction in SEOC and to link this dysfunction to a defective DNA repair pathway and ultimately the promotion of genomic instability and tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 55, "end": 60}], "disease": [{"text": "genomic instability", "start": 176, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.", "output": {"entities": {"gene": [{"text": "PDGFRB", "start": 41, "end": 47}], "disease": [{"text": "IM", "start": 147, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDGFRB", "start": 41, "end": 47}, "tail": {"text": "IM", "start": 147, "end": 149}}]}}, "schema": []}
{"input": "Correlation with Bcl-2 immunostaining showed that of seven patients with high-grade cutaneous diffuse large B-cell lymphoma, four were Bcl-2 positive but had no evidence of a t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 17, "end": 22}], "disease": [{"text": "translocation", "start": 186, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Both vascular endothelial growth factor (VEGF) and Dll4/Notch pathways are critical for angiogenesis, whereas their relationship under hypoxia in lung cancer remains unknown.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 41, "end": 45}], "disease": [{"text": "hypoxia", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "TAP-PN was a significant predictor of recurrence univariately (P = 0. 0006), as well as multivariately, adjusted for known markers including preoperative PSA, clinical stage, Gleason score, surgical margin, extra-prostatic extension, seminal vesicle invasion and lymph node metastasis (P = 0. 0012).", "output": {"entities": {"gene": [{"text": "TAP", "start": 0, "end": 3}], "disease": [{"text": "lymph node metastasis", "start": 263, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "Therapeutic strategies targeting RhoC and RhoC-mediated pathways may be a novel approach for treating metastasis of gastric cancer.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 33, "end": 37}], "disease": [{"text": "gastric cancer", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "IFN-gamma and IL-10 were significantly higher in the symptomatic children (p = 0. 009, p = 0. 025 respectively) than in the asymptomatic controls but no differences were seen for IL-12 (p70).", "output": {"entities": {"gene": [{"text": "IL-10", "start": 14, "end": 19}], "disease": [{"text": "asymptomatic", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "These consisted of leukemia-free survival (LFS), overall survival (OS), cumulative incidence of relapse (CIR), and non-relapse mortality disease (NRM).", "output": {"entities": {"gene": [{"text": "NRM", "start": 146, "end": 149}], "disease": [{"text": "leukemia", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Three patients with Philadelphia chromosome-positive (Ph-positive) chronic myeloid leukemia (CML) who developed new cytogenetic abnormalities after achieving a cytogenetic complete remission (CR) of their Ph-positive disease with interferon alpha (IFN-alpha) based therapy are described.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 248, "end": 257}], "disease": [{"text": "cytogenetic abnormalities", "start": 116, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "SLIT2/ROBO1-miR-218-1-RET/PLAG1: a new disease pathway involved in Hirschsprung' s disease.", "output": {"entities": {"gene": [{"text": "miR-218-1", "start": 12, "end": 21}], "disease": [{"text": "Hirschsprung' s disease", "start": 67, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-218-1", "start": 12, "end": 21}, "tail": {"text": "Hirschsprung' s disease", "start": 67, "end": 90}}]}}, "schema": []}
{"input": "Human prostate adenocarcinoma cell lines, TSU-PR1 and PC3, were grown in serum-free media containing 4-HPR.", "output": {"entities": {"gene": [{"text": "PR1", "start": 46, "end": 49}], "disease": [{"text": "prostate adenocarcinoma", "start": 6, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "This new cell line may prove helpful in analyzing the role and biological mechanisms of the t (4; 14) (p16. 3; q32. 3) translocation in myeloma and also in investigating hyperammonemia in cases with myeloma.", "output": {"entities": {"gene": [{"text": "p16", "start": 103, "end": 106}], "disease": [{"text": "hyperammonemia", "start": 170, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Thus, coincident filarial infection exerted a profound inhibitory effect on protective mycobacteria-specific Th1 and Th17 responses in latent tuberculosis, suggesting a mechanism by which concomitant filarial (and other systemic helminth) infections predispose to the development of active tuberculosis in humans.", "output": {"entities": {"gene": [{"text": "Th1", "start": 109, "end": 112}], "disease": [{"text": "latent tuberculosis", "start": 135, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 68, "end": 73}], "disease": [{"text": "Dejerine-Sottas disease", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 68, "end": 73}, "tail": {"text": "Dejerine-Sottas disease", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "The mechanisms governing extracellular matrix degradation and smooth muscle cell (SMC) loss in the ascending aorta of bicuspid aortic valve (BAV) patients are unknown.", "output": {"entities": {"gene": [{"text": "SMC", "start": 82, "end": 85}], "disease": [{"text": "bicuspid aortic valve", "start": 118, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the circulating levels of brain natriuretic peptide (BNP) in stable angina, unstable angina, and myocardial infarction relating hormone levels to extension of coronary disease and number of vessels involved after angiographic examination.", "output": {"entities": {"gene": [{"text": "BNP", "start": 66, "end": 69}], "disease": [{"text": "unstable angina", "start": 89, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Thrombophilic risk factors analyzed were hyperhomocysteinemia, MTHFR gene mutation, factor V Leiden mutation, protein C and S deficiency, antithrombin deficiency, prothrombin gene mutation, anticardiolipin antibodies and lupus anticoagulant.", "output": {"entities": {"gene": [{"text": "protein C", "start": 110, "end": 119}], "disease": [{"text": "deficiency, prothrombin", "start": 151, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "In this study, we elucidated the mechanisms underlying the regulation of VEGF and endoglin production under hypoxic conditions in the trophoblast-derived cell line, BeWo.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 73, "end": 77}], "disease": [{"text": "hypoxic", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Demonstration of the existence, in some APL-like leukemias, of masked translocations with involvement of PML and RARA, thus allows to (i) confirm the diagnosis of APL, (ii) adapt the treatment and (iii) monitor the residual disease.", "output": {"entities": {"gene": [{"text": "RARA", "start": 113, "end": 117}], "disease": [{"text": "residual disease", "start": 215, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Trisomy 12 cells also exhibit upregulation of intracellular integrin signaling molecules CALDAG-GEFI, RAP1B, and Ras-related protein ligand, resulting in enhanced very late antigen-4 [VLA-4] directed adhesion and motility.", "output": {"entities": {"gene": [{"text": "RAP1B", "start": 102, "end": 107}], "disease": [{"text": "adhesion", "start": 200, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Significant upregulation of CNIH-1, CNIH-2, and CNIH-3 mRNA expression was found in schizophrenia, with no change in CNIH-4 expression.", "output": {"entities": {"gene": [{"text": "CNIH-3", "start": 48, "end": 54}], "disease": [{"text": "schizophrenia", "start": 84, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNIH-3", "start": 48, "end": 54}, "tail": {"text": "schizophrenia", "start": 84, "end": 97}}]}}, "schema": []}
{"input": "We examined the role of MIS determination in the evaluation of 65 phenotypic females with mild virilization.", "output": {"entities": {"gene": [{"text": "MIS", "start": 24, "end": 27}], "disease": [{"text": "mild", "start": 90, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The observed abnormalities of adhesion and migration imply a profound trafficking defect among human MST1-deficient lymphocytes.", "output": {"entities": {"gene": [{"text": "MST1", "start": 101, "end": 105}], "disease": [{"text": "abnormalities", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, haplotypes of LEP, LEPR and GHRL polymorphisms were associated with varying measurements of weight, BMI and WC.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 32, "end": 36}], "disease": [{"text": "weight", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "After T (reg) depletion, splenocytes from WT mice responded to peptides C, D and J (all in the A-subunit), but transgenic splenocytes recognized only peptide D. Because CD4 (+) T cells are critical for thyroid lymphocytic infiltration, amino acid sequences of these peptides were examined for in silico binding to BALB/c major histocompatibility complex class II (IA-d).", "output": {"entities": {"gene": [{"text": "CD4", "start": 169, "end": 172}], "disease": [{"text": "lymphocytic infiltration", "start": 210, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Bcl-2/adenovirus E1B-19kDa-interacting protein 3 (BNIP3) is an important mediator of cell survival and a member of the Bcl-2 family of proteins that regulate programmed cell death and autophagy.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 50, "end": 55}], "disease": [{"text": "adenovirus", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Moreover, VHL was mutated and lost in a renal tumour from a patient with familial renal carcinoma carrying the constitutional translocation, t (3; 8) (p14; q24).", "output": {"entities": {"gene": [{"text": "p14", "start": 151, "end": 154}], "disease": [{"text": "familial renal carcinoma", "start": 73, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We assessed interactions between FTO variants and intakes of dietary fat and protein in relation to change in body weight and insulin resistance using generalized estimating equation models.", "output": {"entities": {"gene": [{"text": "FTO", "start": 33, "end": 36}], "disease": [{"text": "insulin resistance", "start": 126, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that activation of c-Kit by SCF leads to a predominantly HIF-1alpha-mediated enhancement of VEGF expression and that inhibition of c-Kit signaling with imatinib could result in inhibition of tumor angiogenesis.", "output": {"entities": {"gene": [{"text": "SCF", "start": 48, "end": 51}], "disease": [{"text": "tumor angiogenesis", "start": 211, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Finally, SLC16A12, GALR2, TOX, SPOCK2, EGFR5 and DPYS are candidate biomarkers for breast cancer (methylation range 33%-79%) with the combination of EGFR5 or TOX hypermethylation showing a sensitivity of 92% and specificity of 92%.", "output": {"entities": {"gene": [{"text": "SPOCK2", "start": 31, "end": 37}], "disease": [{"text": "breast cancer", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We observed a general up-regulation of positive proliferation regulators, including survivin, multiple growth factors, genes involved in cell cycle progression, and regulatory factor-receptor loops, and the down-regulation of transcriptional repressors, such as Mad4 and JunB, and of antiproliferative and proapoptotic genes, including B cell translocation gene-1 and-2, cyclin G2, BCL-2 antagonist/killer 1, BCL 2-interacting killer, caspase 9, and TGFbeta family growth inhibitory factors.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 382, "end": 387}], "disease": [{"text": "translocation", "start": 343, "end": 356}]}, "relations": {}}, "schema": []}
{"input": "Organ-derived TNF-alpha plays a crucial role in the development of MODS in this murine model.", "output": {"entities": {"gene": [{"text": "TNF", "start": 14, "end": 17}], "disease": [{"text": "MODS", "start": 67, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 14, "end": 17}, "tail": {"text": "MODS", "start": 67, "end": 71}}]}}, "schema": []}
{"input": "We report a female infant with a karyotype of 46, XX, der (9) t (9; 18) (p22. 2; q21. 32) pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening.", "output": {"entities": {"gene": [{"text": "p22", "start": 73, "end": 76}], "disease": [{"text": "congenital heart defects", "start": 218, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Finally, depletion of DCAF1 inhibits the hyperproliferation of Schwannoma cells from NF2 patients and suppresses the oncogenic potential of Merlin-deficient tumor cell lines.", "output": {"entities": {"gene": [{"text": "Merlin", "start": 140, "end": 146}], "disease": [{"text": "NF2", "start": 85, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Merlin", "start": 140, "end": 146}, "tail": {"text": "NF2", "start": 85, "end": 88}}]}}, "schema": []}
{"input": "The translocation t (11; 18) (q21; q21) that generates an API2-MALT1 fusion protein is the most common structural abnormality among the genetic defects reported in mucosa-associated lymphoid tissue (MALT)-type lymphomas, and its presence correlates with the apparent lack of further genetic instability or chromosomal imbalances.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 63, "end": 68}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "However, little is known about the effect of TSA on growth of human tongue carcinoma cells.", "output": {"entities": {"gene": [{"text": "TSA", "start": 45, "end": 48}], "disease": [{"text": "tongue carcinoma", "start": 68, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Sex-dependent control of murine emotional-affective behaviour in health and colitis by peptide YY and neuropeptide Y.", "output": {"entities": {"gene": [{"text": "peptide YY", "start": 87, "end": 97}], "disease": [{"text": "colitis", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Sanger sequencing of four additional unrelated RAK patients revealed four additional ADAM10 mutations.", "output": {"entities": {"gene": [{"text": "ADAM10", "start": 85, "end": 91}], "disease": [{"text": "RAK", "start": 47, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAM10", "start": 85, "end": 91}, "tail": {"text": "RAK", "start": 47, "end": 50}}]}}, "schema": []}
{"input": "ErbB2 receptor tyrosine kinase signaling mediates early demyelination induced by leprosy bacilli.", "output": {"entities": {"gene": [{"text": "ErbB2", "start": 0, "end": 5}], "disease": [{"text": "demyelination", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Involvement of the desmin gene (DES) has been excluded in three families diagnosed with desmin-related myopathy.", "output": {"entities": {"gene": [{"text": "desmin", "start": 19, "end": 25}], "disease": [{"text": "desmin-related myopathy", "start": 88, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "desmin", "start": 19, "end": 25}, "tail": {"text": "desmin-related myopathy", "start": 88, "end": 111}}]}}, "schema": []}
{"input": "Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities.", "output": {"entities": {"gene": [{"text": "BOR", "start": 29, "end": 32}], "disease": [{"text": "hearing impairment", "start": 140, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "CXCL12 producing carcinomas cultured on poly-HEMA displayed heightened Bim and loss of Mcl-1 and Bcl-2 preceding cytochrome c release, and caspase-9 activation.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 113, "end": 125}], "disease": [{"text": "carcinomas", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "By suppressing the phosphoinositide 3-kinase (PI3K)-AKT-mammalian target of rapamycin (mTOR) pathway through its lipid phosphatase activity, PTEN governs a plethora of cellular processes including survival, proliferation, energy metabolism and cellular architecture.", "output": {"entities": {"gene": [{"text": "AKT", "start": 52, "end": 55}], "disease": [{"text": "plethora", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "DFSP often reveals a specific chromosome translocation, t (17; 22) (q22; q13), which results in the fusion of collagen 1 alpha 1 (COL1A1) gene and platelet-derived growth factor-B (PDGFB) gene.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 130, "end": 136}], "disease": [{"text": "chromosome translocation", "start": 30, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Kaplan-Meier plot analysis revealed no significant difference between adult precursor B-ALL patients with monoclonal or oligoclonal IgH gene rearrangements and their disease-free survival rates.", "output": {"entities": {"gene": [{"text": "IgH", "start": 132, "end": 135}], "disease": [{"text": "B-ALL", "start": 86, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IgH", "start": 132, "end": 135}, "tail": {"text": "B-ALL", "start": 86, "end": 91}}]}}, "schema": []}
{"input": "Thus, HRG treatment of primary cultures of epithelial cells of the progestin-dependent C4HD murine mammary tumor line and of T47D cells induced a decrease of protein levels of PRA and-B isoforms and the downregulation of progesterone-binding sites.", "output": {"entities": {"gene": [{"text": "HRG", "start": 6, "end": 9}], "disease": [{"text": "mammary tumor", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "GISTs and PGLs in CT are associated with chromosome 1 and other changes that appear to participate in tumor progression and point to their common genetic cause.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 10, "end": 14}], "disease": [{"text": "tumor progression", "start": 102, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Intracranial calcification in siblings with nephrogenic diabetes insipidus: CT and MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 83, "end": 86}], "disease": [{"text": "nephrogenic diabetes insipidus", "start": 44, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We show that down-regulation of C/EBPβ in mouse hepatoma cells and in mouse livers reduces C/EBPβ-HDAC1 complexes and activates the gankyrin promoter.", "output": {"entities": {"gene": [{"text": "HDAC1", "start": 98, "end": 103}], "disease": [{"text": "hepatoma", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The fact that high CD40 expression existed more in expanding type tumor and had more liver metastasis suggests CD40 may play an important role in local invasion mode and hematogenous spread.", "output": {"entities": {"gene": [{"text": "CD40", "start": 19, "end": 23}], "disease": [{"text": "liver metastasis", "start": 85, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Based on these data we estimate a prevalence of 31% for ABCA4 mutations in arCD and arCRD, supporting the concept that the ABCA4 gene is a major locus for various types of degenerative retinal diseases with abnormalities in cone or both cone and rod function.", "output": {"entities": {"gene": [{"text": "ABCA4 gene", "start": 123, "end": 133}], "disease": [{"text": "abnormalities", "start": 207, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Endothelin-1 and VEGF expression were higher in HIF-CDCs exposed to hypoxia, compared with non-transduced CDCs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that miR145 negatively regulates GBM tumorigenesis by targeting Oct4 and Sox2 in GBM-CD133 (+).", "output": {"entities": {"gene": [{"text": "Sox2", "start": 89, "end": 93}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "These data argue for a dimensional rather than categorical effect of genetic variance in DBH activity; accordingly, the inconsistency of previous findings concerning DbetaH levels in affective disorders might be caused by the underlying association of the TT genotype at DBH-1021 with impulsive personality traits.", "output": {"entities": {"gene": [{"text": "DBH", "start": 89, "end": 92}], "disease": [{"text": "personality traits", "start": 295, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "We have determined, in 84 patients with clinically and biochemically characterized SLOS (detection rate 96%), the mutational spectrum in the DHCR7 gene.", "output": {"entities": {"gene": [{"text": "DHCR7", "start": 141, "end": 146}], "disease": [{"text": "SLOS", "start": 83, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DHCR7", "start": 141, "end": 146}, "tail": {"text": "SLOS", "start": 83, "end": 87}}]}}, "schema": []}
{"input": "This purpose of this study was to examine clinical-pathologic factors--particularly smoking and brain metastases--in EGFR mutation positive (M (+)) lung adenocarcinoma (ADC) to determine their impact on survival in patients treated with first line EGFR TKI.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 117, "end": 121}], "disease": [{"text": "smoking", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of the isoenzymes MAO-A and MAO-B in the human basal ganglia and pons in Huntington' s disease revealed by quantitative enzyme radioautography.", "output": {"entities": {"gene": [{"text": "MAO-B", "start": 42, "end": 47}], "disease": [{"text": "Huntington' s disease", "start": 87, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAO-B", "start": 42, "end": 47}, "tail": {"text": "Huntington' s disease", "start": 87, "end": 108}}]}}, "schema": []}
{"input": "The identified variant appears to shorten motor neuron survival through a detrimental effect on axonal growth and CRMP4 could act as a key unifier in transduction pathways leading to neurodegeneration through effects on early axon development.", "output": {"entities": {"gene": [{"text": "CRMP4", "start": 114, "end": 119}], "disease": [{"text": "neurodegeneration", "start": 183, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Brain-derived neurotrophic factor promotes tumorigenesis via induction of neovascularization: implication in hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "Brain-derived neurotrophic factor", "start": 0, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "This study investigates whether regular physical activity (moderate endurance or resistance training twice a week for 3 months) influences the key regulatory molecules of mitochondrial biogenesis (peroxisome proliferator-activated receptor gamma coactivator-1α (PGC1α), nuclear respiratory factor-1 (NRF1), and mitochondrial transcription factor A (TFAM)) in patients suffering from non-insulin-dependent type 2 diabetes mellitus (T2DM) (n = 16, years = 62 ± 7, body mass index (BMI) = 30 ± 4 kg/m (2)).", "output": {"entities": {"gene": [{"text": "NRF1", "start": 300, "end": 304}], "disease": [{"text": "body mass index", "start": 462, "end": 477}]}, "relations": {}}, "schema": []}
{"input": "In contrast to the acquired MPDs, mutations of the erythropoietin receptor and thrombopoietin receptor have been identified in familial forms of nonclonal erythrocytosis and thrombocytosis, respectively.", "output": {"entities": {"gene": [{"text": "erythropoietin receptor", "start": 51, "end": 74}], "disease": [{"text": "erythrocytosis", "start": 155, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "erythropoietin receptor", "start": 51, "end": 74}, "tail": {"text": "erythrocytosis", "start": 155, "end": 169}}]}}, "schema": []}
{"input": "Specifically, hypoxia-induced downregulation of PHLPP is partially rescued in TSC2 or 4E-BP1 knockdown cells as the result of elevated mTOR activity and protein synthesis.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 78, "end": 82}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Treatment with an adenoviral vector encoding hepatocyte growth factor mitigates established cardiac dysfunction in doxorubicin-induced cardiomyopathy.", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 45, "end": 69}], "disease": [{"text": "cardiomyopathy", "start": 135, "end": 149}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "hepatocyte growth factor", "start": 45, "end": 69}, "tail": {"text": "cardiomyopathy", "start": 135, "end": 149}}]}}, "schema": []}
{"input": "We employed HTGTS to identify tens of thousands of independent translocation junctions involving fixed I-SceI meganuclease-generated DNA double-strand breaks (DSBs) within the c-myc oncogene or IgH locus of B lymphocytes induced for activation-induced cytidine deaminase (AID)-dependent IgH class switching.", "output": {"entities": {"gene": [{"text": "AID", "start": 272, "end": 275}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Methylation status of XAF1 was detected by methylation-specific polymerase chain reaction (MSP) in four esophageal cancer cell lines (KYSE30, KYSE70, BIC1 and partially methylated in TE3 cell lines), nine cases of normal mucosa, 72 cases of primary esophageal cancer and matched adjacent tissue.", "output": {"entities": {"gene": [{"text": "MSP", "start": 91, "end": 94}], "disease": [{"text": "esophageal cancer", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The transmission of longer repeats of (AT) (n) alleles of CTLA-4 is also associated with women undergoing recurrent miscarriage.", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 58, "end": 64}], "disease": [{"text": "recurrent miscarriage", "start": 106, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Tumor-associated macrophage infiltration and up-regulation of tissue factor-factor VII (TF-FVIIa) complex have been observed in the peritoneum and stroma of epithelial ovarian cancer (EOC).", "output": {"entities": {"gene": [{"text": "factor VII", "start": 76, "end": 86}], "disease": [{"text": "epithelial ovarian cancer", "start": 157, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, injured podocytes in murine models of disease and kidney biopsies from glomerulosclerosis patients exhibited increased RAP1GAP, resulting in diminished glomerular RAP1 activation.", "output": {"entities": {"gene": [{"text": "RAP1GAP", "start": 132, "end": 139}], "disease": [{"text": "glomerulosclerosis", "start": 84, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that there is a phosphodiesterase 3A-ICER positive-feedback loop leading to myocyte apoptosis and ongoing development of heart failure after myocardial infarction.", "output": {"entities": {"gene": [{"text": "phosphodiesterase 3A", "start": 35, "end": 55}], "disease": [{"text": "myocardial infarction", "start": 160, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "phosphodiesterase 3A", "start": 35, "end": 55}, "tail": {"text": "myocardial infarction", "start": 160, "end": 181}}]}}, "schema": []}
{"input": "Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.", "output": {"entities": {"gene": [{"text": "usherin", "start": 59, "end": 66}], "disease": [{"text": "Usher syndrome type IIa", "start": 93, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "usherin", "start": 59, "end": 66}, "tail": {"text": "Usher syndrome type IIa", "start": 93, "end": 116}}]}}, "schema": []}
{"input": "Additionally, FBLN-3 promoter methylation was observed to be correlated with relative poor differentiation, advanced pathological stage and lymph node metastasis of NSCLC patients (P = 0. 017, 0. 0057 or 0. 002, respectively), but not with gender, age, histological type, and smoking condition (P > 0. 05).", "output": {"entities": {"gene": [{"text": "FBLN", "start": 14, "end": 18}], "disease": [{"text": "lymph node metastasis", "start": 140, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.", "output": {"entities": {"gene": [{"text": "MYLK", "start": 29, "end": 33}], "disease": [{"text": "Megacystis Microcolon Intestinal Hypoperistalsis Syndrome", "start": 50, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYLK", "start": 29, "end": 33}, "tail": {"text": "Megacystis Microcolon Intestinal Hypoperistalsis Syndrome", "start": 50, "end": 107}}]}}, "schema": []}
{"input": "Patients with RAP had 2 to 8 episodes of pancreatitis during 3. 6-year average follow-up.", "output": {"entities": {"gene": [{"text": "RAP", "start": 14, "end": 17}], "disease": [{"text": "pancreatitis", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Moreover, presence of macroscopic residual disease was positively associated with VEGF gene expression (p = 0. 030) in patients with stage III-IV cancer.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 82, "end": 86}], "disease": [{"text": "residual disease", "start": 34, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We aim to elucidate the function of STAT3 in esophageal carcinogenesis process and molecular mechanisms.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 36, "end": 41}], "disease": [{"text": "esophageal", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We have tested five unrelated individuals with CLS for mutations in nine exons of Rsk-2 using Single Strand Conformation Polymorphism (SSCP) analysis.", "output": {"entities": {"gene": [{"text": "Rsk-2", "start": 82, "end": 87}], "disease": [{"text": "CLS", "start": 47, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Rsk-2", "start": 82, "end": 87}, "tail": {"text": "CLS", "start": 47, "end": 50}}]}}, "schema": []}
{"input": "Given that the Dandy-Walker malformation itself is not a pre-requisite to this spectrum of phenotypes, we also suggest a novel term for the NID1-associated disorder in order to give emphasis to this phenotypic variability: \" Autosomal Dominant Posterior Fossa Anomalies with Occipital Cephaloceles. \"", "output": {"entities": {"gene": [{"text": "NID1", "start": 140, "end": 144}], "disease": [{"text": "Dandy-Walker malformation", "start": 15, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NID1", "start": 140, "end": 144}, "tail": {"text": "Dandy-Walker malformation", "start": 15, "end": 40}}]}}, "schema": []}
{"input": "Stimulation with IL-21 can induce apoptosis in follicular lymphoma (FL) cells, and existing studies have suggested that IL-21 signaling may function in tumor suppression.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 17, "end": 22}], "disease": [{"text": "follicular lymphoma", "start": 47, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito.", "output": {"entities": {"gene": [{"text": "GDD1", "start": 44, "end": 48}], "disease": [{"text": "GDD", "start": 44, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GDD1", "start": 44, "end": 48}, "tail": {"text": "GDD", "start": 44, "end": 47}}]}}, "schema": []}
{"input": "CD97, but not its closely related EGF-TM7 family member EMR2, is expressed on gastric, pancreatic, and esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "CD97", "start": 0, "end": 4}], "disease": [{"text": "esophageal", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The expression of CCN2, IQSEC, RSPO1, DNAJC15, RIPK2, IL13RA2, IRS1, and IRS2 genes in blood of obese boys with insulin resistance.", "output": {"entities": {"gene": [{"text": "RIPK2", "start": 47, "end": 52}], "disease": [{"text": "obese", "start": 96, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Most inclusions were positively stained with antibodies recognizing ubiquitin, proteasome, Hsc70 in transgenic lines, and some Hsc70-positive inclusions were detected in sporadic ALS cases.", "output": {"entities": {"gene": [{"text": "Hsc70", "start": 91, "end": 96}], "disease": [{"text": "sporadic", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "PHGDH encodes the first enzyme in the phosphorylated pathway of de novo serine synthesis, and complete deficiency of its mouse ortholog recapitulates many of the key features of NLS.", "output": {"entities": {"gene": [{"text": "PHGDH", "start": 0, "end": 5}], "disease": [{"text": "NLS", "start": 178, "end": 181}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PHGDH", "start": 0, "end": 5}, "tail": {"text": "NLS", "start": 178, "end": 181}}]}}, "schema": []}
{"input": "Performance of the colorectal cancer screening marker Sept9 is influenced by age, diabetes and arthritis: a nested case-control study.", "output": {"entities": {"gene": [{"text": "Sept9", "start": 54, "end": 59}], "disease": [{"text": "arthritis", "start": 95, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We applied the IL-27 gene delivery protocol in vivo utilizing sonoporation (sonodelivery) with the goal of treating and reducing the growth of prostate cancer at a bone metastatic site in vivo.", "output": {"entities": {"gene": [{"text": "IL-27", "start": 15, "end": 20}], "disease": [{"text": "prostate cancer", "start": 143, "end": 158}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-27", "start": 15, "end": 20}, "tail": {"text": "prostate cancer", "start": 143, "end": 158}}]}}, "schema": []}
{"input": "Therefore, our goal was to study the ability of CD38 to act as a surrogate marker for Ig VH somatic mutation (SM), and to identify differences in overall survival (OS), progression-free survival (PFS) and response in B-CLL patients based on these two markers.", "output": {"entities": {"gene": [{"text": "CD38", "start": 48, "end": 52}], "disease": [{"text": "somatic mutation", "start": 92, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We investigated the relationship of the beta 3-AR gene mutation with total body weight, BMI, central abdominal fat, blood pressure (BP), and reproductive history in 686 elderly subjects (429 women, 257 men; mean age 69. 8 +/-6. 9 [+/-SD] years) from a cross section of a normal population in Australia.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 47, "end": 54}], "disease": [{"text": "body weight", "start": 75, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Here we provide evidence that TRIP6 promotes tumorigenesis by serving as a bridge to promote the recruitment of p27 (KIP1) to AKT in the cytosol.", "output": {"entities": {"gene": [{"text": "p27", "start": 112, "end": 115}], "disease": [{"text": "tumorigenesis", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The current data suggested that activated RhoA promotes VEGF expression and hypoxia-induced angiogenesis through the up-regulation of MDM2 to decrease p53 stability.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 56, "end": 60}], "disease": [{"text": "hypoxia", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In our study the results show that elevated levels of the wild-type PLS3, but not the PLS3 (T21A) mutant, is able to increase hyperthermia-induced CL translocation and apoptosis.", "output": {"entities": {"gene": [{"text": "PLS3", "start": 68, "end": 72}], "disease": [{"text": "hyperthermia", "start": 126, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "However, the prevalence of patients capable of maintaining normal hemoglobin (Hb) level without EPO therapy is increased in the C282Y-mutated patients.", "output": {"entities": {"gene": [{"text": "EPO", "start": 96, "end": 99}], "disease": [{"text": "hemoglobin", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We conclude that variation in ACP1 is associated with fasting insulin and insulin sensitivity in a sex-specific manner.", "output": {"entities": {"gene": [{"text": "ACP1", "start": 30, "end": 34}], "disease": [{"text": "insulin sensitivity", "start": 74, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Prediction of Crohn' s disease aggression through NOD2/CARD15 gene sequencing in an Australian cohort.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 55, "end": 61}], "disease": [{"text": "aggression", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the human PIT-1 gene lead to a combined pituitary hormone deficiency characterized by lack of GH, PRL and TSH.", "output": {"entities": {"gene": [{"text": "PIT-1", "start": 23, "end": 28}], "disease": [{"text": "pituitary hormone deficiency", "start": 53, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "For APCS we found that the allele frequency in the MEF-amyloidosis patients was similar to that in 18 unrelated MEF patients without amyloidosis and their 33 healthy parents.", "output": {"entities": {"gene": [{"text": "MEF", "start": 51, "end": 54}], "disease": [{"text": "amyloidosis", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Two new neuroblastoma xenograft models, IGR-NB3 and IGR-NB8, were derived from previously untreated non-metastatic neuroblastomas.", "output": {"entities": {"gene": [{"text": "NB3", "start": 44, "end": 47}], "disease": [{"text": "neuroblastoma", "start": 8, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Retroviral insertional mutagenesis (RIM) is a powerful tool for cancer genomics that was combined in this study with deep sequencing (RIM/DS) to facilitate a comprehensive analysis of lymphoma progression.", "output": {"entities": {"gene": [{"text": "RIM", "start": 36, "end": 39}], "disease": [{"text": "lymphoma", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that abnormal folding, impaired heme binding, and aggregation of mutant CBS polypeptides may be common pathogenic mechanisms in CBS deficiency.", "output": {"entities": {"gene": [{"text": "CBS", "start": 91, "end": 94}], "disease": [{"text": "CBS deficiency", "start": 147, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CBS", "start": 91, "end": 94}, "tail": {"text": "CBS deficiency", "start": 147, "end": 161}}]}}, "schema": []}
{"input": "These results underscore the importance of combining data from epigenetic, transcriptomic and protein level changes to allow more comprehensive insights into the mechanisms underlying protein expression, that in our case provide additional weight to MCT2 as a candidate biomarker and molecular target in PCa.", "output": {"entities": {"gene": [{"text": "MCT2", "start": 250, "end": 254}], "disease": [{"text": "weight", "start": 240, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "CDKL5 disruption by t (X; 18) in a girl with West syndrome.", "output": {"entities": {"gene": [{"text": "CDKL5", "start": 0, "end": 5}], "disease": [{"text": "West syndrome", "start": 45, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDKL5", "start": 0, "end": 5}, "tail": {"text": "West syndrome", "start": 45, "end": 58}}]}}, "schema": []}
{"input": "We investigated the role of HIF-1alpha in glioma growth in vivo using RNA interference (RNAi) in U251, U87, and U373 glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 103, "end": 106}], "disease": [{"text": "glioma", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Eighty-nine percent of CYP3A5 expressers experienced neurotoxicity versus 100% of non-expressers (P = 0. 03).", "output": {"entities": {"gene": [{"text": "CYP3A5", "start": 23, "end": 29}], "disease": [{"text": "neurotoxicity", "start": 53, "end": 66}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CYP3A5", "start": 23, "end": 29}, "tail": {"text": "neurotoxicity", "start": 53, "end": 66}}]}}, "schema": []}
{"input": "Liver kinase B1 (LKB1) is a tumor suppressor, and its loss might lead to activation of the mammalian target of rapamycin (mTOR) and tumorigenesis.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 17, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The current developed assay methodologies may thus be of significant use in the further elucidation of the mechanism involved in the in vivo effect of HSP90 inhibition in models of neurodegeneration.", "output": {"entities": {"gene": [{"text": "HSP90", "start": 151, "end": 156}], "disease": [{"text": "neurodegeneration", "start": 181, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, HCS decreased the expression of MMP-2, MMP-9 and VEGF in liver metastasis, while also reducing CA19-9 contents in serum.", "output": {"entities": {"gene": [{"text": "HCS", "start": 13, "end": 16}], "disease": [{"text": "liver metastasis", "start": 70, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that TNHP is an autosomal-recessive disease caused by TRPV6 mutations that affect maternal-fetal calcium transport.", "output": {"entities": {"gene": [{"text": "TRPV6", "start": 76, "end": 81}], "disease": [{"text": "TNHP", "start": 27, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPV6", "start": 76, "end": 81}, "tail": {"text": "TNHP", "start": 27, "end": 31}}]}}, "schema": []}
{"input": "Post-treatment with S14080 dose-dependently antagonized the hyperalgesia induced by prostaglandin E2, bradykinin, dopamine and by the hyperalgesic cytokines reported to be released by carrageenin (tumour necrosis factor alpha, interleukin-1 and interleukin-8). 3.", "output": {"entities": {"gene": [{"text": "interleukin-8", "start": 245, "end": 258}], "disease": [{"text": "hyperalgesia", "start": 60, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-8", "start": 245, "end": 258}, "tail": {"text": "hyperalgesia", "start": 60, "end": 72}}]}}, "schema": []}
{"input": "ALK expression was not detectable in any other specimen, including all cases of HD and HD-like type ALC lymphoma as well as secondary ALC lymphomas.", "output": {"entities": {"gene": [{"text": "ALC", "start": 100, "end": 103}], "disease": [{"text": "secondary", "start": 124, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that the tumour infiltration by T-bet + Th1 lymphocytes following neoadjuvant trastuzumab-taxane may represent a new independent prognostic factor of improved outcome in HER2-overexpressing breast carcinoma.", "output": {"entities": {"gene": [{"text": "T-bet", "start": 56, "end": 61}], "disease": [{"text": "breast carcinoma", "start": 214, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "This reduction in parasite burden in SOM (-/-) mice was accompanied by a 95% increase in size of their granulomas (P < 0. 05), which contained a 1. 5-fold increase in levels of IFN-γ and a 26-fold decrease in levels of IL-1β (P < 0. 05 for both) compared to granulomas from WT mice.", "output": {"entities": {"gene": [{"text": "IFN", "start": 177, "end": 180}], "disease": [{"text": "granulomas", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Manipulation of Hopx function in murine models is associated with cardiac hypertrophy, dilation and fibrosis.", "output": {"entities": {"gene": [{"text": "Hopx", "start": 16, "end": 20}], "disease": [{"text": "fibrosis", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In an in vitro analysis, RASFs were used to examine the expression of vasohibin-1 and VEGF mRNA by real-time PCR after stimulation with VEGF or inflammatory cytokines under normoxic or hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 86, "end": 90}], "disease": [{"text": "hypoxic", "start": 185, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "We designed this study to investigate diaphragmatic gene expression of MyoD and Myf5 in the nitrofen CDH model.", "output": {"entities": {"gene": [{"text": "MyoD", "start": 71, "end": 75}], "disease": [{"text": "CDH", "start": 101, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MyoD", "start": 71, "end": 75}, "tail": {"text": "CDH", "start": 101, "end": 104}}]}}, "schema": []}
{"input": "Here we show that melusin expression was increased during compensated cardiac hypertrophy in mice subjected to 1 week pressure overload, but returned to basal levels in LV that have undergone dilation after 12 weeks of pressure overload.", "output": {"entities": {"gene": [{"text": "melusin", "start": 18, "end": 25}], "disease": [{"text": "dilation", "start": 192, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that HRI confers adaptive gene expression in developing erythroblasts during iron deficiency through maintaining Gata1/Fog1 expression.", "output": {"entities": {"gene": [{"text": "HRI", "start": 26, "end": 29}], "disease": [{"text": "iron deficiency", "start": 98, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "t (11; 18) (q21; q21) is a characteristic chromosomal translocation in mucosa-associated lymphoid tissue (MALT) type lymphoma, and this translocation results in fusion transcript of apoptosis inhibitor 2 (API2), also known as c-IAP2, and MALT translocation gene 1 (MALT1).", "output": {"entities": {"gene": [{"text": "MALT1", "start": 265, "end": 270}], "disease": [{"text": "translocation", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In order to better understand the pathogenesis of endometriosis, we have used Serial Analysis of Gene Expression (SAGE) to identify genes differentially in this disease by studying three endometriotic tissues and a normal endometrium sample.", "output": {"entities": {"gene": [{"text": "SAGE", "start": 114, "end": 118}], "disease": [{"text": "endometriosis", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Differential cerebral deposition of IDE and NEP in sporadic and familial Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "NEP", "start": 44, "end": 47}], "disease": [{"text": "sporadic", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.", "output": {"entities": {"gene": [{"text": "TIMM8A", "start": 87, "end": 93}], "disease": [{"text": "chromosome deletion", "start": 33, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Patients with the V617F mutation had a significantly longer duration of disease and a higher rate of complications (fibrosis, hemorrhage, and thrombosis) and treatment with cytoreductive therapy than patients with wild-type JAK2.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 224, "end": 228}], "disease": [{"text": "fibrosis", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "BRCA1-associated tumors are characterized by an elevated genomic instability and peculiar expression profiles.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "genomic instability", "start": 57, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Clinically indistinguishable ALS can be caused by genetic mutations of Cu/Zn superoxide dismutase (SOD1), TAR-DNA binding protein 43 (TDP43), or fused in sarcoma/translocated in liposarcoma (FUS/TLS), or can occur in the absence of known mutation as sporadic disease.", "output": {"entities": {"gene": [{"text": "TLS", "start": 195, "end": 198}], "disease": [{"text": "sporadic", "start": 250, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Data on rs7574865 in the STAT4 gene and rs9138 in SPP1 were replicated for associations with SLE when comparing cases and controls (corrected P values ranging from 0. 0043 to 0. 027).", "output": {"entities": {"gene": [{"text": "SPP1", "start": 50, "end": 54}], "disease": [{"text": "SLE", "start": 93, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPP1", "start": 50, "end": 54}, "tail": {"text": "SLE", "start": 93, "end": 96}}]}}, "schema": []}
{"input": "In contrast, double mutant mice (mdx/utrn (-/-)), deficient for both dystrophin and utrophin die by approximately 3 months and suffer from severe muscle weakness, growth retardation, and severe spinal curvature.", "output": {"entities": {"gene": [{"text": "utrophin", "start": 84, "end": 92}], "disease": [{"text": "spinal curvature", "start": 194, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Another DDR2 missense mutation, c. 2254C & gt; T (p. R752C), matching one of the previously reported SMED-SL mutations, was found in a second affected family.", "output": {"entities": {"gene": [{"text": "DDR2", "start": 8, "end": 12}], "disease": [{"text": "SMED-SL", "start": 101, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DDR2", "start": 8, "end": 12}, "tail": {"text": "SMED-SL", "start": 101, "end": 108}}]}}, "schema": []}
{"input": "Results showed that E2 influenced on protein levels of insulin receptor substrate-1 (IRS-1) and impaired insulin-induced Ser308 phosphorylation of Akt/PKB and Ser9 phosphorylation of GSK3β in Huh7 cells, leading to an inhibition of glucose uptake and glycogen synthesis, respectively, and eventually insulin resistance.", "output": {"entities": {"gene": [{"text": "Huh7", "start": 192, "end": 196}], "disease": [{"text": "insulin resistance", "start": 300, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "In vivo, we found that administration of propranolol (25 mg kg (-1) d (-1)) for 28 days significantly attenuated the airway goblet cell metaplasia, mucus hypersecretion and MUC5AC expression of rats exposed to CS.", "output": {"entities": {"gene": [{"text": "MUC5AC", "start": 173, "end": 179}], "disease": [{"text": "metaplasia", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "There is a positive correlation of chemerin in all compartments with Quick prothrombin time and of SVS chemerin with systolic blood pressure.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 35, "end": 43}], "disease": [{"text": "systolic blood pressure", "start": 117, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The 17p13. 3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism.", "output": {"entities": {"gene": [{"text": "MIM", "start": 64, "end": 67}], "disease": [{"text": "facial dysmorphism", "start": 134, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We report extensive alternative splicing (AS) and alternative polyadenylation (APA) defects in the cerebellum of c9ALS subjects (8, 224 AS and 1, 437 APA), including changes in ALS-associated genes (for example, ATXN2 and FUS), and in subjects with sporadic ALS (sALS; 2, 229 AS and 716 APA).", "output": {"entities": {"gene": [{"text": "FUS", "start": 222, "end": 225}], "disease": [{"text": "sporadic", "start": 249, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "TNMD gene expression, tissue distribution, and TNMD gene expression in adipose tissue from different depots, from lean and obese subjects, and during diet-induced weight reduction were analyzed by DNA microarray and real-time PCR.", "output": {"entities": {"gene": [{"text": "TNMD gene", "start": 0, "end": 9}], "disease": [{"text": "weight reduction", "start": 163, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We sequenced all exons of the EPO gene in 60 children with pollinosis and their parents using the PCR-restriction fragment length polymorphism method.", "output": {"entities": {"gene": [{"text": "EPO gene", "start": 30, "end": 38}], "disease": [{"text": "pollinosis", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "As Foxc1 activity was reduced, abnormalities in basement membrane integrity, heterotopia formation, neuronal overmigration, and meningeal development appeared earlier in gestation and were more severe.", "output": {"entities": {"gene": [{"text": "Foxc1", "start": 3, "end": 8}], "disease": [{"text": "heterotopia", "start": 77, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We conclude that D19A, D22G, K23R and K23_I24insIDK form a mechanistically distinct subset of hereditary pancreatitis-associated mutations that exert their effect primarily through direct stimulation of autoactivation, independently of CTRC.", "output": {"entities": {"gene": [{"text": "CTRC", "start": 236, "end": 240}], "disease": [{"text": "hereditary pancreatitis", "start": 94, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTRC", "start": 236, "end": 240}, "tail": {"text": "hereditary pancreatitis", "start": 94, "end": 117}}]}}, "schema": []}
{"input": "The identification of a substitution in the 3' UTR of the gene associated with a mild form of NC-CAH suggests the importance of analyzing the CYP21A2 untranslated regions to better characterize and treat this subgroup of patients.", "output": {"entities": {"gene": [{"text": "CYP21A2", "start": 142, "end": 149}], "disease": [{"text": "mild", "start": 81, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "FOXP3 gene polymorphisms in preeclampsia.", "output": {"entities": {"gene": [{"text": "FOXP3 gene", "start": 0, "end": 10}], "disease": [{"text": "preeclampsia", "start": 28, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that PECAM-1 plays a role in the pathophysiology of high-functioning autism.", "output": {"entities": {"gene": [{"text": "PECAM-1", "start": 27, "end": 34}], "disease": [{"text": "autism", "start": 91, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PECAM-1", "start": 27, "end": 34}, "tail": {"text": "autism", "start": 91, "end": 97}}]}}, "schema": []}
{"input": "We also detected a biased PER2 genotype distribution among healthy controls and cocaine-addicted individuals.", "output": {"entities": {"gene": [{"text": "PER2", "start": 26, "end": 30}], "disease": [{"text": "cocaine-addicted", "start": 80, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PER2", "start": 26, "end": 30}, "tail": {"text": "cocaine-addicted", "start": 80, "end": 96}}]}}, "schema": []}
{"input": "Mutations in the Pit-1 gene account for a form of combined pituitary hormone deficiency for GH, Prolactin (Prl) and TSH (CPHD).", "output": {"entities": {"gene": [{"text": "Pit-1", "start": 17, "end": 22}], "disease": [{"text": "pituitary hormone deficiency", "start": 59, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Substantial evidence indicates that inherited defects in this enzyme lead to methylmalonyl aciduria, but the corresponding ATR gene has not been identified.", "output": {"entities": {"gene": [{"text": "ATR gene", "start": 123, "end": 131}], "disease": [{"text": "aciduria", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In type 2 diabetes, the Ala allele protects from worsening albuminuria and new-onset microalbuminuria, and ACE inhibition blunts the excess risk of microalbuminuria associated with the Pro/Pro genotype.", "output": {"entities": {"gene": [{"text": "ACE", "start": 107, "end": 110}], "disease": [{"text": "microalbuminuria", "start": 85, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Among them, ras-related protein rab-13 (RAB13), neuroblastoma breakpoint family member 10 (NBPF10) and disks large homologue 4 (DLG4) were found to be involved in GBM for the first time.", "output": {"entities": {"gene": [{"text": "RAB13", "start": 40, "end": 45}], "disease": [{"text": "neuroblastoma", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In vitro, stimulation with VEGF induced the expression of vasohibin-1 mRNA in RASFs under normoxic conditions, and stimulation with cytokines induced vasohibin-1 mRNA expression under a hypoxic condition.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 27, "end": 31}], "disease": [{"text": "hypoxic", "start": 186, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Proportionate NR1 (1XX) expression in AD cingulate and temporal cortex was lower at younger ages and increased with age: this regression was significantly different from that in the homotropic areas of controls.", "output": {"entities": {"gene": [{"text": "NR1", "start": 14, "end": 17}], "disease": [{"text": "regression", "start": 126, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Kaplan-Meier method and multivariate Cox regression model were used to evaluate the prognostic value of nuclear Sam68 expression in NSCLC for disease survival.", "output": {"entities": {"gene": [{"text": "Sam68", "start": 112, "end": 117}], "disease": [{"text": "regression", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Additionally, the predictive value of intra-tumoural TS-, TP-, and DPD-gene expression in pre-operative rectal tumour biopsies was assessed by correlation with the histopathological regression grade.", "output": {"entities": {"gene": [{"text": "DPD", "start": 67, "end": 70}], "disease": [{"text": "regression", "start": 182, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Most importantly, the possibility of PGLs (Carney-Stratakis dyad) and/or pulmonary chondroma (Carney triad) should be addressed in these patients and their kindred.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 37, "end": 41}], "disease": [{"text": "pulmonary chondroma", "start": 73, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We have re-sequenced exons and putative promoter region of ROCK2 in up to 30 pre-eclampsia patients and 22 controls and genotyped putative functional single-nucleotide polymorphisms (SNPs) as well as tagging SNPs from HapMap in a Finnish case-control data set-340 affected and 357 matched control individuals-for a genetic association study of ROCK2 in pre-eclampsia.", "output": {"entities": {"gene": [{"text": "ROCK2", "start": 59, "end": 64}], "disease": [{"text": "pre-eclampsia", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We investigated 11 patients with the dyad of' paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively).", "output": {"entities": {"gene": [{"text": "SDHB", "start": 223, "end": 227}], "disease": [{"text": "paraganglioma and gastric stromal sarcoma", "start": 46, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHB", "start": 223, "end": 227}, "tail": {"text": "paraganglioma and gastric stromal sarcoma", "start": 46, "end": 87}}]}}, "schema": []}
{"input": "VEGF-induced by hypoxia is very important for the early stages of forming polyps.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The t (11; 18) translocation, fusing the API2 and MALT1 genes, is one of the most frequent chromosomal translocations associated with mucosa-associated lymphoid tissue (MALT) lymphomas.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 50, "end": 55}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The study purpose was to verify the implication of hypoxia in the myoblast death observed after their transplantation and also to evaluate the potential beneficial effects of vascular endothelial growth factor (VEGF) overexpression on myoblast engraftment in a murine model.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 211, "end": 215}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Animal studies have demonstrated the importance of orexigenic NPY and agouti-related protein (AGRP) hypothalamic neurons, which are inhibited by the adipocyte hormone leptin, in the regulation of body weight and neuroendocrine secretion.", "output": {"entities": {"gene": [{"text": "NPY", "start": 62, "end": 65}], "disease": [{"text": "body weight", "start": 196, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "In contrast, artemin, GDNF, GFRalpha1-3 and Ret RNA expression were strongly upregulated in the auditory nerve following deafness, indicating their importance in protecting the auditory nerve against cell damage.", "output": {"entities": {"gene": [{"text": "artemin", "start": 13, "end": 20}], "disease": [{"text": "deafness", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "RER (+) phenotype in prostate intra-epithelial neoplasia associated with human prostate-carcinoma development.", "output": {"entities": {"gene": [{"text": "RER", "start": 0, "end": 3}], "disease": [{"text": "carcinoma", "start": 88, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We recently reported increased sphingosine kinase 1 (SPHK1) and decreased neutral sphingomyelinase 2 (NSMase2) gene expression in myelodysplastic syndromes and acute leukemia.", "output": {"entities": {"gene": [{"text": "neutral sphingomyelinase", "start": 74, "end": 98}], "disease": [{"text": "myelodysplastic syndromes", "start": 130, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease.", "output": {"entities": {"gene": [{"text": "FUS", "start": 97, "end": 100}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.", "output": {"entities": {"gene": [{"text": "JRK", "start": 25, "end": 28}], "disease": [{"text": "JME", "start": 134, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "JRK", "start": 25, "end": 28}, "tail": {"text": "JME", "start": 134, "end": 137}}]}}, "schema": []}
{"input": "The t (17; 22) (q22; q13. 1) translocation generates a gene fusion between COL1A1 and PDGFB, which serves as a diagnostic marker of DFSP.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 75, "end": 81}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of CO I and ND4 were higher in the diffused type of gastric cancer than in the intestinal type (P = 0. 024 and P = 0. 0002, respectively).", "output": {"entities": {"gene": [{"text": "ND4", "start": 34, "end": 37}], "disease": [{"text": "gastric cancer", "start": 74, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "DAP kinase and DAP kinase-interacting protein 1 (DIP-1) localized to mitochondria in control brain, whereas levels of both were increased in the cytoplasm and microsomal (endoplasmic reticulum) fraction in epilepsy samples.", "output": {"entities": {"gene": [{"text": "kinase-interacting protein 1", "start": 19, "end": 47}], "disease": [{"text": "epilepsy", "start": 206, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "The expression of the prodynorphin mRNA was currently studied in the amygdaloid complex, a brain region critical for emotional processing, in subjects (14-15 per group) diagnosed with major depression, bipolar disorder, or schizophrenia and compared to normal controls.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 22, "end": 34}], "disease": [{"text": "depression, bipolar", "start": 190, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "All viral load parameters showed significant decreases from baseline within 1 week of initiation of zidovudine, as measured by standard p24 antigen assay, ICD p24 assay, and QC-PCR.", "output": {"entities": {"gene": [{"text": "p24", "start": 136, "end": 139}], "disease": [{"text": "viral load", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "In addition, DDX3 was shown to be a direct downstream target of HIF-1α (the master regulatory of the hypoxia response) in breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "DDX3", "start": 13, "end": 17}], "disease": [{"text": "hypoxia", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "A region of the VEGF promoter between-420 and-90 bp mediated this HIF-independent induction by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 16, "end": 20}], "disease": [{"text": "hypoxia", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We show that abrogation of galectin-4 expression promotes cancer cell proliferation and, for the first time, provide evidence that down-regulation of galectin-4 elicits tumor promotion in vitro and in vivo through activation of IL-6/NF-κB/STAT3 signaling.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 233, "end": 238}], "disease": [{"text": "tumor promotion", "start": 169, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Rapamycin administration at 0. 8 mg/kg/day for 7 days resulted in enhanced atrophy and attenuated the phosphorylation of ERK1, STAT3, and p70S6K without altering gene expression.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 121, "end": 125}], "disease": [{"text": "atrophy", "start": 75, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK1", "start": 121, "end": 125}, "tail": {"text": "atrophy", "start": 75, "end": 82}}]}}, "schema": []}
{"input": "A single kinase, CK2, in D1-MSNs significantly alters dopamine signaling, a finding that could have therapeutic implications for disorders characterized by dopamine imbalance such as Parkinson' s disease, attention-deficit/hyperactivity disorder, and schizophrenia.", "output": {"entities": {"gene": [{"text": "CK2", "start": 17, "end": 20}], "disease": [{"text": "schizophrenia", "start": 251, "end": 264}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CK2", "start": 17, "end": 20}, "tail": {"text": "schizophrenia", "start": 251, "end": 264}}]}}, "schema": []}
{"input": "Moreover, c-FLIP (L) knockdown partly restored TRAIL sensitivity in G1 cells, indicating that the expression level of c-FLIP (L) and its interaction with TRAIL receptor2 play a crucial role in determining TRAIL resistance in metastatic melanoma cells.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 47, "end": 52}], "disease": [{"text": "metastatic melanoma", "start": 225, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "We report reductions in somatostatin and vasoactive intestinal peptide mRNAs in prefrontal and orbitofrontal cortices in bipolar disorder (n = 31) and schizophrenia (n = 35) compared to controls (n = 34) and increased calbindin mRNA in schizophrenia.", "output": {"entities": {"gene": [{"text": "somatostatin", "start": 24, "end": 36}], "disease": [{"text": "bipolar disorder", "start": 121, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "somatostatin", "start": 24, "end": 36}, "tail": {"text": "bipolar disorder", "start": 121, "end": 137}}]}}, "schema": []}
{"input": "This suggests that the LKB1 gene may be related to the tumorigenesis of breast cancer.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 23, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Recurrent venous thromboembolic disease and factor XI concentrate in a patient with severe factor XI deficiency, chronic myelomonocytic leukaemia, factor V Leiden and heterozygous plasminogen deficiency.", "output": {"entities": {"gene": [{"text": "factor XI", "start": 44, "end": 53}], "disease": [{"text": "chronic myelomonocytic leukaemia", "start": 113, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Taken together, this study identifies a novel signaling mechanism mediated by FAT1 in regulating the activity of PDCD4 and thereby the key transcription factor AP-1, which then affects known mediators of neoplasia and inflammation.", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 113, "end": 118}], "disease": [{"text": "inflammation", "start": 218, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "This translocation leads to constitutive activation of the BCL2 oncogene by the enhancers of the immunoglobulin heavy-chain locus.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 59, "end": 63}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Our studies strongly demonstrated that E2F-1 induces melanoma cell apoptosis via PUMA up-regulation and Bax translocation.", "output": {"entities": {"gene": [{"text": "PUMA", "start": 81, "end": 85}], "disease": [{"text": "translocation", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Of these, thickness, male sex, dense freckling, low nevus density on the back, histologic subtype and history of nonmelanoma skin cancer appeared to be independently associated with strong p53 staining.", "output": {"entities": {"gene": [{"text": "p53", "start": 189, "end": 192}], "disease": [{"text": "freckling", "start": 37, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Apigenin also impeded hypoxia-mediated induction of GLUT-1 and VEGF mRNA in both cell lines (P < 0. 05).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 63, "end": 67}], "disease": [{"text": "hypoxia", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Gene expression correlation analysis showed that genes involved in the mevalonate pathway and unsaturated fatty acid synthesis were negatively correlated with the expression of EGFR, MET and other growth factor receptor genes, as well as with the expression of genes involved in cell migration and adhesion.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 177, "end": 181}], "disease": [{"text": "adhesion", "start": 298, "end": 306}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases.", "output": {"entities": {"gene": [{"text": "SPG4", "start": 24, "end": 28}], "disease": [{"text": "SPAST", "start": 17, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPG4", "start": 24, "end": 28}, "tail": {"text": "SPAST", "start": 17, "end": 22}}]}}, "schema": []}
{"input": "An Interaction with Ewing' s Sarcoma Breakpoint Protein EWS Defines a Specific Oncogenic Mechanism of ETS Factors Rearranged in Prostate Cancer.", "output": {"entities": {"gene": [{"text": "EWS", "start": 56, "end": 59}], "disease": [{"text": "Prostate Cancer", "start": 128, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EWS", "start": 56, "end": 59}, "tail": {"text": "Prostate Cancer", "start": 128, "end": 143}}]}}, "schema": []}
{"input": "This clearly indicates that HIF-1 not only regulates hypoxia-induced VEGF-A production but also mediates at least in part the effects of growth factors and DEX on VEGF-A synthesis and release.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 69, "end": 75}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Fluorescent in situ hybridization with probes to Ig heavy chain gene and to the oncogene bcl-2 demonstrated a translocation of bcl-2 to the immunoglobulin heavy chain locus on chromosome 14.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 89, "end": 94}], "disease": [{"text": "translocation", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "In the absence of laforin, water-soluble glycogen becomes insoluble, leading to the neurodegenerative disorder Lafora Disease.", "output": {"entities": {"gene": [{"text": "laforin", "start": 18, "end": 25}], "disease": [{"text": "Lafora Disease", "start": 111, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "laforin", "start": 18, "end": 25}, "tail": {"text": "Lafora Disease", "start": 111, "end": 125}}]}}, "schema": []}
{"input": "The activity of vesicle-associated cathepsin B measured using Z-Arg-Arg-pNA as substrate was significantly increased at acidic pH values.", "output": {"entities": {"gene": [{"text": "cathepsin B", "start": 35, "end": 46}], "disease": [{"text": "vesicle", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Cysteine-rich 61/connective tissue growth factor/nephroblastoma overexpressed (CCN) 3 has been recently reported to play a role in regulating inflammation of vascular endothelial cells.", "output": {"entities": {"gene": [{"text": "connective tissue growth factor", "start": 17, "end": 48}], "disease": [{"text": "inflammation", "start": 142, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "However, the increased amount of c-Myc found in Burkitt' s lymphoma cell lines did not lead to increased cad mRNA levels.", "output": {"entities": {"gene": [{"text": "c-Myc", "start": 33, "end": 38}], "disease": [{"text": "cad", "start": 105, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "A high expression of AT2 may accelerate the apoptosis of cardiomyocytes in diabetic rats and play a role in precipitating diabetic cardiomyopathy; taurine may protect diabetic rats from developing cardiomyopathy also by downregulating AT2 receptors.", "output": {"entities": {"gene": [{"text": "AT2", "start": 21, "end": 24}], "disease": [{"text": "diabetic cardiomyopathy", "start": 122, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AT2", "start": 21, "end": 24}, "tail": {"text": "diabetic cardiomyopathy", "start": 122, "end": 145}}]}}, "schema": []}
{"input": "A novel p. Pro186Arg mutation in CHST6 is associated with MCD type II in an African American.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 33, "end": 38}], "disease": [{"text": "MCD", "start": 58, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 33, "end": 38}, "tail": {"text": "MCD", "start": 58, "end": 61}}]}}, "schema": []}
{"input": "Combining the crucial role that zinc plays in cell growth and the proven role of metalloproteases in metastasis presents an exciting indication of how LIV-1 plays a role in breast cancer progression.", "output": {"entities": {"gene": [{"text": "LIV-1", "start": 151, "end": 156}], "disease": [{"text": "metastasis", "start": 101, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LIV-1", "start": 151, "end": 156}, "tail": {"text": "metastasis", "start": 101, "end": 111}}]}}, "schema": []}
{"input": "These stimulate sensory neurons from mice and generate visceral hypersensitivity via activation of TRPV4.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 99, "end": 104}], "disease": [{"text": "hypersensitivity", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Myopia was defined as spherical equivalent, equal to or worse than-0. 50 Diopters (D) RESULTS: A total of 1224 twins (690 monozygotic twins and 534 dizygotic twins) aged between 18 to 86 years (mean age = 52. 36 years) were recruited into the GEM study.", "output": {"entities": {"gene": [{"text": "GEM", "start": 243, "end": 246}], "disease": [{"text": "dizygotic twins", "start": 148, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In tongue cancer patients, pretherapeutic C-myc mRNA expression was significantly higher as compared to controls.", "output": {"entities": {"gene": [{"text": "C-myc", "start": 42, "end": 47}], "disease": [{"text": "tongue cancer", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Fetuses with GSTT1 (del) had a mean birth weight reduction among smokers of 262 g (P =. 01), whereas in fetuses without the GSTT1 (del) the effect of tobacco exposure was nonsignificant (mean reduction 87 g, P =. 16).", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 13, "end": 18}], "disease": [{"text": "weight reduction", "start": 42, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, overexpression of FXYD3 in pancreatic cancer may contribute to the proliferative activity of this malignancy.", "output": {"entities": {"gene": [{"text": "FXYD3", "start": 33, "end": 38}], "disease": [{"text": "pancreatic cancer", "start": 42, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FXYD3", "start": 33, "end": 38}, "tail": {"text": "pancreatic cancer", "start": 42, "end": 59}}]}}, "schema": []}
{"input": "Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP.", "output": {"entities": {"gene": [{"text": "IGF-2", "start": 97, "end": 102}], "disease": [{"text": "autism", "start": 14, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGF-2", "start": 97, "end": 102}, "tail": {"text": "autism", "start": 14, "end": 20}}]}}, "schema": []}
{"input": "Paravertebral muscle R2 * was positively associated with body mass index, waist circumference, and fat mass (measured by dual-energy x-ray absorptiometry) in parallel with hepatic iron content, serum ferritin, and hepcidin.", "output": {"entities": {"gene": [{"text": "hepcidin", "start": 214, "end": 222}], "disease": [{"text": "waist circumference", "start": 74, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We identified for the first time a homozygous point mutation in STRADA causing PMSE.", "output": {"entities": {"gene": [{"text": "STRADA", "start": 64, "end": 70}], "disease": [{"text": "PMSE", "start": 79, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STRADA", "start": 64, "end": 70}, "tail": {"text": "PMSE", "start": 79, "end": 83}}]}}, "schema": []}
{"input": "Previous reports have implicated ADAMTS7 in the regulation of vascular smooth muscle cell migration, but a role for and the direction of impact of this gene in atherogenesis have not been shown in relevant model systems.", "output": {"entities": {"gene": [{"text": "ADAMTS7", "start": 33, "end": 40}], "disease": [{"text": "atherogenesis", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Tissue microarrays contained primary cancer, normal stomach, intestinal metaplasia, and gastric epithelial dysplasia and were probed with antibodies against nine potential markers that were either identified in a database of genes overexpressed in gastric adenocarcinoma or were already of interest to our laboratory: claudin-4, mitogen-activated protein kinase kinase 4 (MKK4), 14-3-3sigma (stratifin), S100A4, mesothelin, fascin, topoisomerase IIalpha, HER-2/neu, and epithelial growth factor receptor.", "output": {"entities": {"gene": [{"text": "S100A4", "start": 404, "end": 410}], "disease": [{"text": "intestinal metaplasia", "start": 61, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "One TLS patient died of intracerebral hemorrhage on day 10 and another patient of multiorgan failure on day 17.", "output": {"entities": {"gene": [{"text": "TLS", "start": 4, "end": 7}], "disease": [{"text": "multiorgan failure", "start": 82, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "As well as cystatin C, urinary β2-microglobulin, clusterin, GST-α, GST-μ, KIM-1, and NGAL also had the potential to detect renal damage associated with anti-GBM glomerulonephritis.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 85, "end": 89}], "disease": [{"text": "glomerulonephritis", "start": 161, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "In this preclinical study, the potential of synthetic androgen 7α-methyl-19-nortestosterone (MENT) as alternative treatment for male hypogonadism was evaluated in comparison with T. Eleven-month-old male rats were orchidectomized (orch) and left untreated for 2-months.", "output": {"entities": {"gene": [{"text": "MENT", "start": 93, "end": 97}], "disease": [{"text": "male hypogonadism", "start": 128, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these data indicated that PARP-1 inhibition attenuated the poly (ADP-ribosyl) ation of Sp1 and significantly increased the expression of Sp1 target genes, resulting in G0/G1 cell cycle arrest and the decreased proliferative ability of the hepatoma cells.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 103, "end": 106}], "disease": [{"text": "hepatoma", "start": 255, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "The Pro (7) in NPY was detected in 14% of Finns but only in 6% of Dutchmen, and its impact on serum cholesterol concentration seems to be stronger in obese than in normal-weight subjects.", "output": {"entities": {"gene": [{"text": "NPY", "start": 15, "end": 18}], "disease": [{"text": "weight", "start": 171, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The CXCR4 ligand CXCL12 (10 ng/mL) doubled secreted VEGFA, measured with ELISA, under hypoxic conditions and this conditioned media increased human umbilical vein endothelial cell tube formation.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 52, "end": 57}], "disease": [{"text": "hypoxic", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Recurrent seizures associated with the chronic phase of epilepsy coincided with the accumulation of mtDNA damage, increased mitochondrial H2O2 levels, decreased expression of Ogg1 and Pol gamma and impaired mtDNA repair capacity.", "output": {"entities": {"gene": [{"text": "Ogg1", "start": 175, "end": 179}], "disease": [{"text": "epilepsy", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "ALX4 was readily expressed in normal lung tissues with an unmethylated status, but downregulated or silenced in 90% (9/10) of lung cancer cell lines with a hypermethylation status.", "output": {"entities": {"gene": [{"text": "ALX4", "start": 0, "end": 4}], "disease": [{"text": "lung cancer", "start": 126, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALX4", "start": 0, "end": 4}, "tail": {"text": "lung cancer", "start": 126, "end": 137}}]}}, "schema": []}
{"input": "Here, we report that the cold-sensing transient receptor potential melastatin 8 (TRPM8) is functionally present in mouse BAT.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 81, "end": 86}], "disease": [{"text": "cold", "start": 25, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the associations of polymorphisms in glutathione-S-transferases (GSTs) genes that are GSTM1, GSTT1, and GSTP1, with sporadic colorectal cancer (CRC).", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 117, "end": 122}], "disease": [{"text": "sporadic", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In 22 muscles from dysferlinopathy patients we investigated fiber atrophy by morphometry and ubiquitin-proteasome and autophagic pathways using protein and/or transcriptional analysis of atrophy-and autophagy-related genes (MuRF1, atrogin1, LC3, p62, Bnip3).", "output": {"entities": {"gene": [{"text": "p62", "start": 246, "end": 249}], "disease": [{"text": "atrophy", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c. 936 + 919G & gt; A (IVS4 + 919G & gt; A).", "output": {"entities": {"gene": [{"text": "GLA", "start": 90, "end": 93}], "disease": [{"text": "Fabry disease", "start": 22, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLA", "start": 90, "end": 93}, "tail": {"text": "Fabry disease", "start": 22, "end": 35}}]}}, "schema": []}
{"input": "The frequencies for the GSTM1 null genotype were 58%, 45%, and 60% for pre-eclampsia, eclampsia, and HELLP syndrome, respectively, and in controls it was 55%.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 24, "end": 29}], "disease": [{"text": "pre-eclampsia", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations.", "output": {"entities": {"gene": [{"text": "Rsk-2", "start": 48, "end": 53}], "disease": [{"text": "CLS", "start": 70, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Rsk-2", "start": 48, "end": 53}, "tail": {"text": "CLS", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "The increase of serum chemerin concentration is mainly associated with the increase of body mass index in obese, non-diabetic subjects.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 22, "end": 30}], "disease": [{"text": "body mass index", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We measured secretion of the pro-fibrotic cytokine, interleukin-6 (IL-6), and the pro-inflammatory cytokines, IL-8 and monocyte chemotactic protein 1, before and after mechanical strain in bronchial fibroblasts obtained from asthmatic patients [asthmatic bronchial fibroblasts (BAF)] and normal volunteers [normal bronchial fibroblasts (BNF)], and in nasal fibroblasts (NF) obtained from nasal polyps.", "output": {"entities": {"gene": [{"text": "BAF", "start": 278, "end": 281}], "disease": [{"text": "nasal polyps", "start": 388, "end": 400}]}, "relations": {}}, "schema": []}
{"input": "A correlation between the promoter methylation status and viral infection, although it was weak, intimated that hepatitis viral infections could play a role in the CpG methylation of the MGMT promoter.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 187, "end": 191}], "disease": [{"text": "viral infections", "start": 122, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The MCL1 gene, recently identified in a myeloid leukemia cell line, has sequence similarity to BCL2, the gene at the t (14; 18) translocation in follicular lymphoma.", "output": {"entities": {"gene": [{"text": "MCL1 gene", "start": 4, "end": 13}], "disease": [{"text": "translocation", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Eighteen members (35 to 77 years) of a large German family underwent MR scanning with a standardized MRI protocol for cerebrovascular diseases.", "output": {"entities": {"gene": [{"text": "MRI", "start": 101, "end": 104}], "disease": [{"text": "cerebrovascular diseases", "start": 118, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Fusion protein RUNX1-ETO (AML1-ETO, RUNX1-RUNX1T1) is expressed as the result of the 8q22; 21q22 translocation [t (8; 21)], which is one of the most common chromosomal abnormalities found in acute myeloid leukemia.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 15, "end": 20}], "disease": [{"text": "translocation", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The positive expression of FAK correlated notably with lymph node metastasis and cellular differentiation.", "output": {"entities": {"gene": [{"text": "FAK", "start": 27, "end": 30}], "disease": [{"text": "lymph node metastasis", "start": 55, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2).", "output": {"entities": {"gene": [{"text": "SNX31", "start": 146, "end": 151}], "disease": [{"text": "schizophrenia", "start": 104, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SNX31", "start": 146, "end": 151}, "tail": {"text": "schizophrenia", "start": 104, "end": 117}}]}}, "schema": []}
{"input": "AML1 is involved in the (8; 21) translocation, associated with acute myelogenous leukemia (AML)-type M2, which results in the production of the AML1-ETO fusion protein: the amino-terminal 177 amino acids of AML1 and the carboxyl-terminal 575 amino acids of ETO.", "output": {"entities": {"gene": [{"text": "AML1", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Mid1 expression in undifferentiated cells in the central nervous, gastrointestinal and urogenital systems suggests that abnormal cell proliferation may underlie the defect in midline development characteristic of Opitz syndrome.", "output": {"entities": {"gene": [{"text": "Mid1", "start": 0, "end": 4}], "disease": [{"text": "nervous", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "A regression model that included APOA1 gene expression and microbial abundance more accurately predicted month 6 steroid-free remission than a model using clinical factors alone.", "output": {"entities": {"gene": [{"text": "APOA1 gene", "start": 33, "end": 43}], "disease": [{"text": "regression", "start": 2, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "In general, BGL enhanced but LPS exposure decreased primary immune responses at 7 wk of age, whereas both PAMP-enhanced secondary immune responses but decreased primary immune responses at 13 wk of age.", "output": {"entities": {"gene": [{"text": "BGL", "start": 12, "end": 15}], "disease": [{"text": "secondary", "start": 120, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In metastatic carcinoma surgical samples, there was a marked increased expression of SRF as compared to expression in primary colorectal carcinoma surgical samples (P < 0. 05).", "output": {"entities": {"gene": [{"text": "SRF", "start": 85, "end": 88}], "disease": [{"text": "colorectal carcinoma", "start": 126, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "This genotypic variant may be a useful biomarker for early-onset MMD or unstable MMD with cerebral infarction, which requires early diagnosis and revascularization treatment.", "output": {"entities": {"gene": [{"text": "MMD", "start": 65, "end": 68}], "disease": [{"text": "cerebral infarction", "start": 90, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "After subcutaneous injection of B16 melanoma cells, primary tumor growth as well as neovascularization was markedly reduced in mice lacking one copy of the Foxc2 gene (Foxc2 +/-).", "output": {"entities": {"gene": [{"text": "Foxc2 gene", "start": 156, "end": 166}], "disease": [{"text": "neovascularization", "start": 84, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We suggest that increased ADM expression in PBL after acute ischemic stroke is most likely to indicate that these cells have been subjected to hypoxia and that the magnitude of expression is likely to be related to the volume of hypoxic tissue.", "output": {"entities": {"gene": [{"text": "ADM", "start": 26, "end": 29}], "disease": [{"text": "hypoxic", "start": 229, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Genetic variation of glucose transporter-1 (GLUT1) and albuminuria in 10, 278 European Americans and African Americans: a case-control study in the Atherosclerosis Risk in Communities (ARIC) study.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 44, "end": 49}], "disease": [{"text": "albuminuria", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).", "output": {"entities": {"gene": [{"text": "CDGS", "start": 85, "end": 89}], "disease": [{"text": "Jaeken syndrome", "start": 68, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDGS", "start": 85, "end": 89}, "tail": {"text": "Jaeken syndrome", "start": 68, "end": 83}}]}}, "schema": []}
{"input": "High-resolution orbital magnetic resonance imaging (MRI) was used to investigate the structural basis of ocular motility abnormalities in humans with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) due to missense mutations in the developmental kinesin KIF21A.", "output": {"entities": {"gene": [{"text": "KIF21A", "start": 268, "end": 274}], "disease": [{"text": "abnormalities", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Eight network 2 genes (KIAA0101, HDAC2, SUMO1, RBBP4, NONO, RBBP7, HTRA2, and MTA2) were significantly differentially expressed in an array of 18 different sarcoma types.", "output": {"entities": {"gene": [{"text": "MTA2", "start": 78, "end": 82}], "disease": [{"text": "sarcoma", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia.", "output": {"entities": {"gene": [{"text": "TRH", "start": 48, "end": 51}], "disease": [{"text": "tachycardia", "start": 71, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 48, "end": 51}, "tail": {"text": "tachycardia", "start": 71, "end": 82}}]}}, "schema": []}
{"input": "Taken together, these findings suggest a role of FTKs in causing disease progression in MPDs by inducing chromosomal instability through the production of DSBs and stimulation of SSA repair.", "output": {"entities": {"gene": [{"text": "SSA", "start": 179, "end": 182}], "disease": [{"text": "chromosomal instability", "start": 105, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Systemic FasL and TRAIL neutralisation reduce leishmaniasis induced skin ulceration.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 18, "end": 23}], "disease": [{"text": "skin ulceration", "start": 68, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.", "output": {"entities": {"gene": [{"text": "keratin 2e", "start": 69, "end": 79}], "disease": [{"text": "Ichthyosis bullosa of Siemens", "start": 0, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 2e", "start": 69, "end": 79}, "tail": {"text": "Ichthyosis bullosa of Siemens", "start": 0, "end": 29}}]}}, "schema": []}
{"input": "Vernolide-A inhibits radiation-induced hypoxia-mediated tumor angiogenesis by regulating HIF-1α, MMP-2, MMP-9, and VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 115, "end": 119}], "disease": [{"text": "hypoxia", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that TPL2 deletion does not alter body weight gain or adipose depot weight.", "output": {"entities": {"gene": [{"text": "TPL2", "start": 20, "end": 24}], "disease": [{"text": "weight", "start": 54, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Previously we showed that two sisters with GGM had a missense mutation in the SGLT1 gene.", "output": {"entities": {"gene": [{"text": "SGLT1", "start": 78, "end": 83}], "disease": [{"text": "GGM", "start": 43, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGLT1", "start": 78, "end": 83}, "tail": {"text": "GGM", "start": 43, "end": 46}}]}}, "schema": []}
{"input": "To analyze the genetic features of sporadic NFLE, we designed mutation screening of exon 5 of CHRNA4, exon 5 of CHRNB2, and exon 6 of CHRNA2, mutations in which are associated with ADFLE.", "output": {"entities": {"gene": [{"text": "CHRNB2", "start": 112, "end": 118}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We explored genetic variability at the PCK1 gene locus in relation to degree of insulin resistance and plasma fatty acid levels in MetS subjects.", "output": {"entities": {"gene": [{"text": "PCK1 gene", "start": 39, "end": 48}], "disease": [{"text": "insulin resistance", "start": 80, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We investigated the importance of BRN2 in the expression of the lineage-specific transcription factors (achaete-scute homolog-like 1 (ASCL1) and NeuroD1 (ND1)) and neural/neuroendocrine marker molecules (neural cell adhesion molecule 1 (NCAM1), synaptophysin (SYP) and chromogranin A (CHGA)) in small cell lung cancer (SCLC) using cultured lung cancer cells.", "output": {"entities": {"gene": [{"text": "ND1", "start": 154, "end": 157}], "disease": [{"text": "small cell lung cancer", "start": 295, "end": 317}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis led to the following conclusions: (1) specific pattern of MAP2-positive tumor cells can be identified in 95% of glial neoplasms; (2) ependymal tumors do not express MAP2 in their rosette-forming cell component; (3) tumors of the pineal gland as well as malignant embryonic tumors are also characterized by abundant MAP2 immunoreactivity; (4) virtually no MAP2 expression can be observed in the neoplastic glial component of glio-neuronal tumors, i. e.", "output": {"entities": {"gene": [{"text": "MAP2", "start": 87, "end": 91}], "disease": [{"text": "tumors", "start": 172, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "These provocative findings are intensifying interest in AEG-1 as a crucial regulator of tumor progression and metastasis and as a potential mediator of neurodegeneration.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 56, "end": 61}], "disease": [{"text": "neurodegeneration", "start": 152, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "In multiple sclerosis (MS), beta-adrenergic receptor densities on peripheral blood mononuclear cells are enhanced, while the astrocytes present in plaques lack beta2 adrenergic receptor (beta2AR) expression.", "output": {"entities": {"gene": [{"text": "beta2", "start": 160, "end": 165}], "disease": [{"text": "multiple sclerosis", "start": 3, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "ADNP haploinsufficiency in mice, which results in age-related neuronal death, cognitive and social dysfunction, exhibited reduced hippocampal beclin1 and increased Bcl2 expression (mimicking schizophrenia and normal human aging).", "output": {"entities": {"gene": [{"text": "Bcl2", "start": 164, "end": 168}], "disease": [{"text": "schizophrenia", "start": 191, "end": 204}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl2", "start": 164, "end": 168}, "tail": {"text": "schizophrenia", "start": 191, "end": 204}}]}}, "schema": []}
{"input": "HLTF expression was conserved in the HKT-1097 cell line established from kidney tumors, but again only 10% of positive cells were found in xenografts produced by HKT-1097 cells in nude mice.", "output": {"entities": {"gene": [{"text": "HLTF", "start": 0, "end": 4}], "disease": [{"text": "kidney tumors", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HLTF", "start": 0, "end": 4}, "tail": {"text": "kidney tumors", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "LS and SIJ involvement may occur simultaneously in very early SpA and may be differentiated from non-inflammatory back pain by the severity of MRI lesions.", "output": {"entities": {"gene": [{"text": "MRI", "start": 143, "end": 146}], "disease": [{"text": "back pain", "start": 114, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Atherogenesis in transgenic mice expressing human apolipoprotein (a)", "output": {"entities": {"gene": [{"text": "apolipoprotein (a", "start": 50, "end": 67}], "disease": [{"text": "Atherogenesis", "start": 0, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "apolipoprotein (a", "start": 50, "end": 67}, "tail": {"text": "Atherogenesis", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "[Combination therapy with 5-fluorouracil (5-FU), cisplatin (CDDP) and interferon alpha-2B (IFN alpha-2B) for advanced renal cell carcinoma].", "output": {"entities": {"gene": [{"text": "interferon alpha-2B", "start": 70, "end": 89}], "disease": [{"text": "renal cell carcinoma", "start": 118, "end": 138}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interferon alpha-2B", "start": 70, "end": 89}, "tail": {"text": "renal cell carcinoma", "start": 118, "end": 138}}]}}, "schema": []}
{"input": "The neoplastic cells expressed monocyte/macrophage-specific marker CD68 (KP-1) and lysozymes and the dendritic cell-associated antigens CD35 and Fascin but was negative for CD1a, CD21, and CD23, most consistent with a diagnosis of FDC sarcoma.", "output": {"entities": {"gene": [{"text": "CD1a", "start": 173, "end": 177}], "disease": [{"text": "sarcoma", "start": 235, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Thus, Gas6 enhances platelet degranulation and aggregation responses through its known receptors, promoting platelet activation and mediating thrombus formation such that its inhibition prevents thrombosis without increasing bleeding.", "output": {"entities": {"gene": [{"text": "Gas6", "start": 6, "end": 10}], "disease": [{"text": "thrombus", "start": 142, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gas6", "start": 6, "end": 10}, "tail": {"text": "thrombus", "start": 142, "end": 150}}]}}, "schema": []}
{"input": "Neurons with adenovirus-mediated overexpression of GRP94 were resistant to ischemic damage.", "output": {"entities": {"gene": [{"text": "GRP94", "start": 51, "end": 56}], "disease": [{"text": "adenovirus", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "MT1-MMP is a transmembrane member of the MMP family that has been demonstrated to be upregulated as prostate cancer progresses from normal to prostate intraepithelial neoplasia to invasive cancer, suggesting a role for MT1-MMP in the invasion of prostate cancer.", "output": {"entities": {"gene": [{"text": "MT1-MMP", "start": 0, "end": 7}], "disease": [{"text": "intraepithelial neoplasia", "start": 151, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Adaptive responses within hypoxic tumor microenvironments require the altered expression of Solute Carrier (SLC) transporters to maintain nutrient uptake in support of cellular metabolism and biosynthesis.", "output": {"entities": {"gene": [{"text": "SLC", "start": 108, "end": 111}], "disease": [{"text": "hypoxic", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Derivative (22) t (3; 22) (q12; p11. 1) in desmoplastic medulloblastoma.", "output": {"entities": {"gene": [{"text": "p11", "start": 32, "end": 35}], "disease": [{"text": "desmoplastic medulloblastoma", "start": 43, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Dominant optic atrophy in Denmark-report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 66, "end": 70}], "disease": [{"text": "Dominant optic atrophy", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 66, "end": 70}, "tail": {"text": "Dominant optic atrophy", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "LY294002 suppressed the heat-induced accumulation of heat shock protein 27 (hsp27) and heat shock protein 72 (hsp72) in these cell lines.", "output": {"entities": {"gene": [{"text": "hsp27", "start": 76, "end": 81}], "disease": [{"text": "shock", "start": 58, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor.", "output": {"entities": {"gene": [{"text": "erythropoietin receptor", "start": 77, "end": 100}], "disease": [{"text": "familial polycythaemia", "start": 8, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "erythropoietin receptor", "start": 77, "end": 100}, "tail": {"text": "familial polycythaemia", "start": 8, "end": 30}}]}}, "schema": []}
{"input": "To discover the secretome that influences lung adenocarcinoma metastasis, the hollow fiber culture (HFC) system was used along with label-free proteomics approach to analyze cell secretomes between CL1-0 and CL1-5 cell lines, which exhibit low and high metastatic potentials.", "output": {"entities": {"gene": [{"text": "CL1", "start": 198, "end": 201}], "disease": [{"text": "lung adenocarcinoma", "start": 42, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "This study indicates that MEX exert a pleiotropic protective effect on the lung and inhibit pulmonary hypertension through suppression of hyperproliferative pathways, including STAT3-mediated signaling induced by hypoxia.", "output": {"entities": {"gene": [{"text": "MEX", "start": 26, "end": 29}], "disease": [{"text": "pulmonary hypertension", "start": 92, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Alterations of the APC and wild-type p53 tumor suppressor genes in OSF may imply a risk for progression to oral cancer.", "output": {"entities": {"gene": [{"text": "OSF", "start": 67, "end": 70}], "disease": [{"text": "oral cancer", "start": 107, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that Lcn2 protects against intestinal inflammation and tumorigenesis associated with alterations in the microbiota.", "output": {"entities": {"gene": [{"text": "Lcn2", "start": 29, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We present an unusual case of a boy with clinical features of both POH and PHP Ia, and a GNAS inactivating mutation.", "output": {"entities": {"gene": [{"text": "GNAS", "start": 89, "end": 93}], "disease": [{"text": "POH", "start": 67, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAS", "start": 89, "end": 93}, "tail": {"text": "POH", "start": 67, "end": 70}}]}}, "schema": []}
{"input": "Oxyntomodulin (OXM), a 37-amino acid peptide hormone of the glucagon (GCG) family with dual agonistic activity on both the GLP-1 (GLP1R) and the GCG (GCGR) receptors, has been shown to reduce food intake and body weight in humans, with a lower incidence of treatment-associated nausea than GLP-1 mimetics.", "output": {"entities": {"gene": [{"text": "GCG", "start": 70, "end": 73}], "disease": [{"text": "body weight", "start": 208, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "The serine protease inhibitor BCX 1470, which blocks the esterolytic and hemolytic activities of the complement enzymes Cls and factor D in vitro, also blocked development of RPA-induced edema in the rat.", "output": {"entities": {"gene": [{"text": "factor D", "start": 128, "end": 136}], "disease": [{"text": "edema", "start": 187, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrated that PCO induction resulted in elevation of chemerin mRNA and protein levels in ovary in concomitant with incidence of insulin resistance and increasing androgen and progesterone production.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 69, "end": 77}], "disease": [{"text": "insulin resistance", "start": 144, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "we measured TFPI activity in plasma before and 10 min after intravenous injection of 7500 IU unfractionated heparin in 64 young patients with venous thrombosis, 49 young patients with arterial thrombosis and 38 healthy individuals.", "output": {"entities": {"gene": [{"text": "TFPI", "start": 12, "end": 16}], "disease": [{"text": "arterial thrombosis", "start": 184, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: CONCLUSIONS: SNCG, MAP2, SDF-1 and CXCR4 may play an important role in the carcinogenesis, progression, invasion and metastasis of gastric adenocarcinoma.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 22, "end": 26}], "disease": [{"text": "gastric adenocarcinoma", "start": 140, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "It therefore appears that in NHL it is possible for MYCN, like MYC in Burkitt lymphoma, to be activated as a result of a chromosome translocation event.", "output": {"entities": {"gene": [{"text": "MYCN", "start": 52, "end": 56}], "disease": [{"text": "chromosome translocation", "start": 121, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Programmed electrical stimulation (PES) was performed in all affected members, which revealed a remarkably short atrial and ventricular refractory period, and inducibility of atrial and ventricular fibrillation.", "output": {"entities": {"gene": [{"text": "PES", "start": 35, "end": 38}], "disease": [{"text": "ventricular fibrillation", "start": 186, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.", "output": {"entities": {"gene": [{"text": "FGF16", "start": 30, "end": 35}], "disease": [{"text": "heart disease", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes.", "output": {"entities": {"gene": [{"text": "KDM6A", "start": 22, "end": 27}], "disease": [{"text": "KS", "start": 58, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KDM6A", "start": 22, "end": 27}, "tail": {"text": "KS", "start": 58, "end": 60}}]}}, "schema": []}
{"input": "The OLR1 gene encodes the oxidized low-density lipoprotein receptor (LOX-1), which is responsible for the cellular uptake of oxidized LDL (Ox-LDL), foam cell formation in atheroma plaques and atherosclerotic plaque rupture.", "output": {"entities": {"gene": [{"text": "LOX-1", "start": 69, "end": 74}], "disease": [{"text": "atheroma", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease.", "output": {"entities": {"gene": [{"text": "DPC4", "start": 21, "end": 25}], "disease": [{"text": "JPS", "start": 40, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DPC4", "start": 21, "end": 25}, "tail": {"text": "JPS", "start": 40, "end": 43}}]}}, "schema": []}
{"input": "Both groups underwent colour Doppler transthoracic echocardiography to detect MVP and the following laboratory work-up: plasma prothrombin time, activated partial thromboplastin time, thrombin time, fibrinogen, protein C, protein S, homocysteine, lupus anticoagulant, von Willebrand factor (vWF) ristocetin cofactor activity, immunoglobulins (Ig) G and M anticardiolipin antibodies (aCL).", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 268, "end": 289}], "disease": [{"text": "lupus anticoagulant", "start": 247, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.", "output": {"entities": {"gene": [{"text": "GJB2", "start": 118, "end": 122}], "disease": [{"text": "Bart-Pumphrey syndrome", "start": 53, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJB2", "start": 118, "end": 122}, "tail": {"text": "Bart-Pumphrey syndrome", "start": 53, "end": 75}}]}}, "schema": []}
{"input": "This study tests the primary hypothesis that blocking the bradykinin B (2) receptor would attenuate protamine-related hypotension.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 58, "end": 68}], "disease": [{"text": "hypotension", "start": 118, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 58, "end": 68}, "tail": {"text": "hypotension", "start": 118, "end": 129}}]}}, "schema": []}
{"input": "The CNP-NPRB system may play a crucial role in the development of cardiovascular disease.", "output": {"entities": {"gene": [{"text": "CNP", "start": 4, "end": 7}], "disease": [{"text": "cardiovascular disease", "start": 66, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Blockade of GLP-1 receptors failed to suppress subjective satiety following a standardized meal or increase voluntary food intake in healthy, normal-weight subjects.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 12, "end": 17}], "disease": [{"text": "weight", "start": 149, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "While in vitro, following release from serum starvation of HuH7 HCC cell, the expression of Nek6 was upregulated.", "output": {"entities": {"gene": [{"text": "HCC", "start": 64, "end": 67}], "disease": [{"text": "starvation", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "EGFR expression was inversely associated with response to induction chemotherapy (IC) (P =. 01), chemotherapy/radiotherapy (CRT; P =. 055), overall survival (OS; P =. 001), and disease-specific survival (DSS; P =. 002) and was directly associated with current smoking (P =. 04), female sex (P =. 053), and lower HPV titer (P =. 03).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 260, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Adiponectin negatively regulates the progression of gastric cancer cells possibly through both AdipoR1 and AdipoR2.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 107, "end": 114}], "disease": [{"text": "gastric cancer", "start": 52, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Effectiveness of IFN-gamma for liver abscesses in chronic granulomatous disease.", "output": {"entities": {"gene": [{"text": "IFN", "start": 17, "end": 20}], "disease": [{"text": "chronic granulomatous disease", "start": 50, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Low expression of p27, a cell cycle regulator haplo-insufficient for tumor suppression, predicted poor outcome in indolent and aggressive lymphoma, and overexpression of cyclin D3 was associated with poor prognosis in indolent lymphomas.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 170, "end": 179}], "disease": [{"text": "aggressive lymphoma", "start": 127, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Our study is the first that confirms that traits and characteristics related to neuroticism, such as increased anxiety, depression, hopelessness, somatization, feeling of guilt, hostility, aggression, lack of self-directedness and affective temperament are consistently and independently associated with the 5-HTTLPR polymorphism of the serotonin transporter gene.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 337, "end": 358}], "disease": [{"text": "aggression", "start": 189, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "A T-to-C missense mutation at nucleotide position 9, 185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant ataxia and peripheral neuropathy.", "output": {"entities": {"gene": [{"text": "ATP6", "start": 79, "end": 83}], "disease": [{"text": "Leigh syndrome", "start": 187, "end": 201}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP6", "start": 79, "end": 83}, "tail": {"text": "Leigh syndrome", "start": 187, "end": 201}}]}}, "schema": []}
{"input": "Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.", "output": {"entities": {"gene": [{"text": "MAN2B1", "start": 99, "end": 105}], "disease": [{"text": "alpha-mannosidosis", "start": 27, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAN2B1", "start": 99, "end": 105}, "tail": {"text": "alpha-mannosidosis", "start": 27, "end": 45}}]}}, "schema": []}
{"input": "ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.", "output": {"entities": {"gene": [{"text": "ARL6IP6", "start": 0, "end": 7}], "disease": [{"text": "Cutis Marmorata Telangiectatica Congenita", "start": 92, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARL6IP6", "start": 0, "end": 7}, "tail": {"text": "Cutis Marmorata Telangiectatica Congenita", "start": 92, "end": 133}}]}}, "schema": []}
{"input": "The expression of epidermal growth factor receptor (growth), basic fibroblast growth factor [(bFGF), angiogenesis], type IV collagenase (invasion), E-cadherin (adhesion), and multidrug-resistant (mdr)-1 (drug resistance) mRNA was examined using an in situ mRNA hybridization (ISH) technique and Northern blot analysis.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 18, "end": 50}], "disease": [{"text": "adhesion", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Association study of parathyroid hormone gene polymorphism and bone mineral density in Japanese postmenopausal women.", "output": {"entities": {"gene": [{"text": "parathyroid hormone gene", "start": 21, "end": 45}], "disease": [{"text": "bone mineral density", "start": 63, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Tumor cells are reactive for CD34 and characterized by a t (17; 22) translocation or a supernumerary ring chromosome that results in the fusion of exon 2 of PDGFB to various exons of the COL1A1 gene.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 157, "end": 162}], "disease": [{"text": "translocation", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Null mutations of the Artemis gene result in a complete absence of T and B lymphocytes that is associated with increased cell radiosensitivity, causing the radiosensitive T (-) B (-) SCID (RS-SCID) condition.", "output": {"entities": {"gene": [{"text": "Artemis", "start": 22, "end": 29}], "disease": [{"text": "RS-SCID", "start": 189, "end": 196}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Artemis", "start": 22, "end": 29}, "tail": {"text": "RS-SCID", "start": 189, "end": 196}}]}}, "schema": []}
{"input": "MEN2A represents more than 50% of all MEN2 cases, having a regular pattern with medullary thyroid carcinoma (MTC) incidence of 90-100%, bilateral pheochromocytoma (PCC) incidence of 40-50% and primary hyperparathyroidism (HPT) incidence of 10-25%.", "output": {"entities": {"gene": [{"text": "HPT", "start": 222, "end": 225}], "disease": [{"text": "medullary thyroid carcinoma", "start": 80, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Real-time PCR and Western blot analysis were performed to detect Notch-1, Notch-2, Notch-3 and Notch-4 receptor expression in breast cancer cells when PEA3 was knocked down by siRNA.", "output": {"entities": {"gene": [{"text": "Notch-4", "start": 95, "end": 102}], "disease": [{"text": "breast cancer", "start": 126, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Notch-4", "start": 95, "end": 102}, "tail": {"text": "breast cancer", "start": 126, "end": 139}}]}}, "schema": []}
{"input": "The developed hypoxic state may upregulate the synthesis of VEGF and thereby eNOS.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 60, "end": 64}], "disease": [{"text": "hypoxic", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Here, we report a rare case of therapy-related acute myeloid leukemia with PDGFRA rearrangement after chemotherapy for prior B lymphoblastic leukemia (B-ALL).", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 75, "end": 81}], "disease": [{"text": "B-ALL", "start": 151, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDGFRA", "start": 75, "end": 81}, "tail": {"text": "B-ALL", "start": 151, "end": 156}}]}}, "schema": []}
{"input": "We identify two new susceptibility loci at 11p11. 2 (DDB2, rs747650, P (combined) = 4. 41 × 10 ⁻ ⁹ and rs1060573, P (combined) = 1. 28 × 10 ⁻ ⁸) and 1q24. 2 (SELL, rs7531806, P (combined) = 1. 20 × 10 ⁻ ⁸) that are involved in androgen metabolism, inflammation processes and scar formation in severe acne.", "output": {"entities": {"gene": [{"text": "SELL", "start": 158, "end": 162}], "disease": [{"text": "scar", "start": 275, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "We compared the FMR1 genotype and sub-genotype distribution in 99 BRCA1/2 positive women and in 182 healthy women without a known history of familial breast and ovarian cancer and searched for associations with age at menarche and menopause.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 16, "end": 20}], "disease": [{"text": "age at menarche", "start": 211, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "This demonstrates that a mutation in a type V collagen gene, COL5A1, results in EDS type I, and shows the involvement of L1 sequences in a constitutional chromosomal translocation.", "output": {"entities": {"gene": [{"text": "COL5A1", "start": 61, "end": 67}], "disease": [{"text": "chromosomal translocation", "start": 154, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 0, "end": 4}], "disease": [{"text": "autosomal dominant optic atrophy", "start": 51, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 0, "end": 4}, "tail": {"text": "autosomal dominant optic atrophy", "start": 51, "end": 83}}]}}, "schema": []}
{"input": "We report the phenotypic characteristics and natural history of 4 adults with severe, progressive OI characterized by numerous fractures, short stature with rhizomelic shortening, and deformity of the limbs and variable kyphoscoliosis, in whom we identified novel biallelic missense and frameshift mutations in BMP1.", "output": {"entities": {"gene": [{"text": "BMP1", "start": 311, "end": 315}], "disease": [{"text": "short stature", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "A total of 19 hereditary nonpolyposis colorectal cancer (HNPCC), 86 suspected HNPCC, and 246 sporadic colorectal cancer cases were investigated for OGG1 and MYH mutations.", "output": {"entities": {"gene": [{"text": "OGG1", "start": 148, "end": 152}], "disease": [{"text": "hereditary nonpolyposis colorectal cancer", "start": 14, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Transforming growth factor-beta (TGF-beta) inducible early gene 1 (TIEG1) is known to induce apoptosis in TGF-beta sensitive pancreatic cancer cells, yet its effect on TGF-beta resistant cancer cells remains unclear.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 33, "end": 41}], "disease": [{"text": "resistant cancer", "start": 177, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.", "output": {"entities": {"gene": [{"text": "Rac2", "start": 76, "end": 80}], "disease": [{"text": "neutrophil immunodeficiency syndrome", "start": 6, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Rac2", "start": 76, "end": 80}, "tail": {"text": "neutrophil immunodeficiency syndrome", "start": 6, "end": 42}}]}}, "schema": []}
{"input": "The chemokine stromal cell-derived factor (SDF-1; also known as chemokine ligand 12 [CXCL12]) regulates many essential biological processes, including cardiac and neuronal development, stem cell motility, neovascularization, angiogenesis, apoptosis, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "CXCL12", "start": 85, "end": 91}], "disease": [{"text": "tumorigenesis", "start": 254, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that BAG1 plays a key role in affective resilience and in regulating recovery from both manic-like and depression-like behavioral impairments.", "output": {"entities": {"gene": [{"text": "BAG1", "start": 24, "end": 28}], "disease": [{"text": "depression", "start": 122, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAG1", "start": 24, "end": 28}, "tail": {"text": "depression", "start": 122, "end": 132}}]}}, "schema": []}
{"input": "Analysis of five glioma cell lines (U87, U251, U373, MZ-54 and MZ-18) indicated that only two of the cell lines were sensitive to apoptosis induced by TRAIL alone.", "output": {"entities": {"gene": [{"text": "U87", "start": 36, "end": 39}], "disease": [{"text": "glioma", "start": 17, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "In this study, we explored the relationship between HER2 and inflammation, comparing the effects of overexpressing wild-type or mutated inactive forms of HER2 in primary human breast cells.", "output": {"entities": {"gene": [{"text": "HER2", "start": 52, "end": 56}], "disease": [{"text": "inflammation", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "SS RBC adhesion to laminin increases in response to adrenaline stimulation of beta (2)-adrenergic receptors (beta (2) ARs) and adenylate cyclase (ADCY6), and previous evidence suggests such activation occurs in vivo.", "output": {"entities": {"gene": [{"text": "ADCY6", "start": 146, "end": 151}], "disease": [{"text": "adhesion", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Screening for tHcy and related factors should be further evaluated in regions with high prevalence of homocystinuria and in babies at high risk of B12 deficiency.", "output": {"entities": {"gene": [{"text": "B12", "start": 147, "end": 150}], "disease": [{"text": "homocystinuria", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Similar anorectic effects were observed following acute administration of exogenous TNF-& #945; and IL-1 & #946;.", "output": {"entities": {"gene": [{"text": "TNF", "start": 84, "end": 87}], "disease": [{"text": "anorectic", "start": 8, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 84, "end": 87}, "tail": {"text": "anorectic", "start": 8, "end": 17}}]}}, "schema": []}
{"input": "The c-Jun NH (2)-terminal kinase (JNK) is a critical determinant of obesity-associated inflammation and glucose intolerance.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 4, "end": 9}], "disease": [{"text": "inflammation", "start": 87, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Connective tissue growth factor (CTGF) is a matricellular protein involved in inflammation, tumour growth and angiogenesis.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 33, "end": 37}], "disease": [{"text": "inflammation", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that MALAT1 is a metastasis-suppressing lncRNA rather than a metastasis promoter in breast cancer, calling for rectification of the model for this highly abundant and conserved lncRNA.", "output": {"entities": {"gene": [{"text": "MALAT1", "start": 32, "end": 38}], "disease": [{"text": "breast cancer", "start": 111, "end": 124}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MALAT1", "start": 32, "end": 38}, "tail": {"text": "breast cancer", "start": 111, "end": 124}}]}}, "schema": []}
{"input": "However, following pretreatment with alpha CRF (9-41), MABP returned to control values within 3 min and the sustained period of hypotension was completely blocked.", "output": {"entities": {"gene": [{"text": "CRF", "start": 43, "end": 46}], "disease": [{"text": "hypotension", "start": 128, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF", "start": 43, "end": 46}, "tail": {"text": "hypotension", "start": 128, "end": 139}}]}}, "schema": []}
{"input": "Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.", "output": {"entities": {"gene": [{"text": "GNPTAB", "start": 37, "end": 43}], "disease": [{"text": "mucolipidosis II alpha/beta", "start": 78, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNPTAB", "start": 37, "end": 43}, "tail": {"text": "mucolipidosis II alpha/beta", "start": 78, "end": 105}}]}}, "schema": []}
{"input": "Family-based genetic association analysis was employed to investigate the contribution of MYBPH in modifying hypertrophy.", "output": {"entities": {"gene": [{"text": "MYBPH", "start": 90, "end": 95}], "disease": [{"text": "hypertrophy", "start": 109, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Synaptic fatigue is more pronounced in the APP/PS1 transgenic mouse model of Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "PS1", "start": 47, "end": 50}], "disease": [{"text": "fatigue", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Prenatal cannabis exposure was significantly associated with increased mu receptor expression in the amygdala, reduced kappa receptor mRNA in mediodorsal thalamic nucleus and reduced preproenkephalin expression in the caudal putamen.", "output": {"entities": {"gene": [{"text": "preproenkephalin", "start": 183, "end": 199}], "disease": [{"text": "cannabis", "start": 9, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "preproenkephalin", "start": 183, "end": 199}, "tail": {"text": "cannabis", "start": 9, "end": 17}}]}}, "schema": []}
{"input": "The role of CSF2RA and IL3RA haploinsufficiency in linear growth and final adult stature is discussed.", "output": {"entities": {"gene": [{"text": "CSF2RA", "start": 12, "end": 18}], "disease": [{"text": "stature", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We tested whether the null genotypes for GSTM1 and GSTT1 genes altered the risk for sporadic colorectal adenocarcinoma in Brazilian patients.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 41, "end": 46}], "disease": [{"text": "sporadic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Human glioma U251 cells (harboring the mutant type p53 gene) and U87 cells (harboring the wide type p53 gene) were irradiated with X-rays.", "output": {"entities": {"gene": [{"text": "U87", "start": 65, "end": 68}], "disease": [{"text": "glioma", "start": 6, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "We obtained paraffin-embedded LDD lesions from 18 unselected, unrelated patients and performed mutational analysis of PTEN.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 118, "end": 122}], "disease": [{"text": "LDD", "start": 30, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 118, "end": 122}, "tail": {"text": "LDD", "start": 30, "end": 33}}]}}, "schema": []}
{"input": "Recent retrospective studies of heterogeneously treated patients have suggested that chromosomal aberrations of the MYC gene locus indicate an unfavorable prognosis in diffuse large B-cell lymphoma (DLBCL).", "output": {"entities": {"gene": [{"text": "MYC gene", "start": 116, "end": 124}], "disease": [{"text": "chromosomal aberrations", "start": 85, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Multiple genes associated with aggressive behavior were increased in the androgen-independent metastatic tumors (MMP9, CKS2, LRRC15, WNT5A, EZH2, E2F3, SDC1, SKP2, and BIRC5), whereas a candidate tumor suppressor gene (KLF6) was decreased.", "output": {"entities": {"gene": [{"text": "SDC1", "start": 152, "end": 156}], "disease": [{"text": "aggressive behavior", "start": 31, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "To test this hypothesis, we analyzed here the functional role and clinical significance of PD2 in pancreatic ductal adenocarcinoma (PDAC) and its pathogenesis.", "output": {"entities": {"gene": [{"text": "PD2", "start": 91, "end": 94}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 98, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In five cases with increased mast cells in which targeted-FISH analysis was performed for RUNX1-RUNX1T1, fusion signals demonstrated the translocation in mast cells in all cases.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 90, "end": 95}], "disease": [{"text": "translocation", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Corticobasal syndrome (CBS) is characterised by asymmetrical parkinsonism and cognitive impairment.", "output": {"entities": {"gene": [{"text": "CBS", "start": 23, "end": 26}], "disease": [{"text": "parkinsonism", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Case-control comparisons for allele and genotype frequencies showed that ADH4 SNPs were associated with alcohol dependence but not with alcohol abuse.", "output": {"entities": {"gene": [{"text": "ADH4", "start": 73, "end": 77}], "disease": [{"text": "alcohol abuse", "start": 136, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADH4", "start": 73, "end": 77}, "tail": {"text": "alcohol abuse", "start": 136, "end": 149}}]}}, "schema": []}
{"input": "From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.", "output": {"entities": {"gene": [{"text": "DFNB30", "start": 112, "end": 118}], "disease": [{"text": "nonsyndromic hearing loss", "start": 86, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DFNB30", "start": 112, "end": 118}, "tail": {"text": "nonsyndromic hearing loss", "start": 86, "end": 111}}]}}, "schema": []}
{"input": "The DFNB74 locus for autosomal-recessive, nonsyndromic deafness segregating in three families was previously mapped to a 5. 36 Mb interval on chromosome 12q14. 2-q15.", "output": {"entities": {"gene": [{"text": "DFNB74", "start": 4, "end": 10}], "disease": [{"text": "nonsyndromic deafness", "start": 42, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DFNB74", "start": 4, "end": 10}, "tail": {"text": "nonsyndromic deafness", "start": 42, "end": 63}}]}}, "schema": []}
{"input": "The incidence of TET2, ASXL1, CBL, IDH or IKZF1 mutations in these disorders ranges from 0 to 17%; these latter mutations are more common in chronic (TET2, ASXL1, CBL) or juvenile (CBL) myelomonocytic leukemias, mastocytosis (TET2), myelodysplastic syndromes (TET2, ASXL1) and secondary acute myeloid leukemia, including blast-phase MPN (IDH, ASXL1, IKZF1).", "output": {"entities": {"gene": [{"text": "CBL", "start": 30, "end": 33}], "disease": [{"text": "mastocytosis", "start": 212, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "This study examines mechanisms of hypoxia-induced PPARγ downregulation in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 50, "end": 55}], "disease": [{"text": "hypoxia", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We conclude that immunoglobulin V region somatic hypermutation does not induce point mutations into the t (14; 18) breakpoint region or into the translated region of the third exon of bcl-2 alleles involved in the t (14; 18) translocation, conserving the membrane insertion properties of the carboxyl tail of this protein.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 184, "end": 189}], "disease": [{"text": "translocation", "start": 225, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.", "output": {"entities": {"gene": [{"text": "CD2BP1", "start": 13, "end": 19}], "disease": [{"text": "PAPA syndrome", "start": 72, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD2BP1", "start": 13, "end": 19}, "tail": {"text": "PAPA syndrome", "start": 72, "end": 85}}]}}, "schema": []}
{"input": "δ-Catenin mutations increase β-catenin translocation to the nucleus and hypoxia-inducible factor 1α (HIF-1α) expression.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 101, "end": 107}], "disease": [{"text": "translocation", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The leptin receptor (LEPR) plays a crucial role in the regulation of body weight.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 21, "end": 25}], "disease": [{"text": "body weight", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Pentraxin 3 is a member of the pentraxin family which is expressed as part of the acute-phase response that begins after injury, trauma, and infection.", "output": {"entities": {"gene": [{"text": "Pentraxin 3", "start": 0, "end": 11}], "disease": [{"text": "acute-phase response", "start": 82, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "This study supports the recent finding of TRPV3 as the gene implicated in OS and suggests that the mutation p. Gly573Ser may be a recurrent abnormality in this genodermatosis.", "output": {"entities": {"gene": [{"text": "TRPV3", "start": 42, "end": 47}], "disease": [{"text": "OS", "start": 74, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPV3", "start": 42, "end": 47}, "tail": {"text": "OS", "start": 74, "end": 76}}]}}, "schema": []}
{"input": "Knockdown of placental Hif-1α mRNA by specific siRNA significantly attenuated hallmark features of preeclampsia induced by angiotensin II type I receptor agonistic autoantibody in pregnant mice, including hypertension, proteinuria, kidney damage, impaired placental vasculature, and elevated maternal circulating soluble fms-like tyrosine kinase-1 levels.", "output": {"entities": {"gene": [{"text": "Hif-1α", "start": 23, "end": 29}], "disease": [{"text": "kidney damage", "start": 232, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "CCL20 peptides, which block CCR6 binding to CCL20, inhibited development of type 1 diabetes.", "output": {"entities": {"gene": [{"text": "CCL20", "start": 0, "end": 5}], "disease": [{"text": "type 1 diabetes", "start": 76, "end": 91}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CCL20", "start": 0, "end": 5}, "tail": {"text": "type 1 diabetes", "start": 76, "end": 91}}]}}, "schema": []}
{"input": "The findings of this study expand the clinical and pathologic spectrum of DGP associated with POMGNT2 variants from the severest Walker-Warburg syndrome to the mildest LGMD phenotypes.", "output": {"entities": {"gene": [{"text": "POMGNT2", "start": 94, "end": 101}], "disease": [{"text": "LGMD", "start": 168, "end": 172}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POMGNT2", "start": 94, "end": 101}, "tail": {"text": "LGMD", "start": 168, "end": 172}}]}}, "schema": []}
{"input": "Increased recovery rates of phosphocreatine and inorganic phosphate after isometric contraction in oxidative muscle fibers and elevated hepatic insulin resistance in homozygous carriers of the A-allele of FTO rs9939609.", "output": {"entities": {"gene": [{"text": "FTO", "start": 205, "end": 208}], "disease": [{"text": "insulin resistance", "start": 144, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of PAR-1 had no effect on cells' adhesiveness, while PAR-3 knockdowns (KDs) exhibited much faster adhesion kinetics.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 13, "end": 18}], "disease": [{"text": "adhesion", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Several recent epidemiological studies have identified interactions between maternal smoking during pregnancy, genetic variants of endothelial nitric oxide synthase, and risk for gastroschisis.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 131, "end": 164}], "disease": [{"text": "smoking", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We present a case of renal epithelioid angiomyolipoma (eAML)/perivascular epithelioid cell tumor (PEComa) with a TFE3 gene break visible by fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 176, "end": 180}], "disease": [{"text": "perivascular epithelioid cell tumor", "start": 61, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Correspondingly, western blot analysis revealed VTA-selective up-regulation of CREB (p & lt; 0. 01), NMDAR1 (p & lt; 0. 01), GluR2 (p & lt; 0. 05), GluR5 (p & lt; 0. 01) and KA2 (p & lt; 0. 05) protein levels of cocaine overdose victims.", "output": {"entities": {"gene": [{"text": "GluR5", "start": 148, "end": 153}], "disease": [{"text": "of cocaine overdose", "start": 209, "end": 228}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GluR5", "start": 148, "end": 153}, "tail": {"text": "of cocaine overdose", "start": 209, "end": 228}}]}}, "schema": []}
{"input": "Here, we investigated the effects of FKBP12. 6 over-expression and gender on Ca (2 +)-handling proteins (RyR2, SERCA2a/PLB, and NCX), and on pro-(CaMKII, Cn/NFAT) and anti-hypertrophic (GSK3β) signalling pathways in a thoracic aortic constriction (TAC) mouse model.", "output": {"entities": {"gene": [{"text": "FKBP12. 6", "start": 37, "end": 46}], "disease": [{"text": "thoracic", "start": 218, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Our aims were to assess the FTO gene expression in subcutaneous and visceral adipose tissues from morbidly obese women and its relation with obesity, insulin resistance indices, and most importantly, to obesity-related inflammatory markers.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 28, "end": 36}], "disease": [{"text": "insulin resistance", "start": 150, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The outgrowth of human colorectal tumors grown in mice was completely blocked by transduction with AAV. TRAIL in vitro, while in vivo transduction significantly inhibited the growth of established tumors.", "output": {"entities": {"gene": [{"text": "AAV", "start": 99, "end": 102}], "disease": [{"text": "colorectal tumors", "start": 23, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "SPARCL1 functions as a tumor suppressor promoting differentiation possibly via MET, which inhibits the aggressiveness of CRCs.", "output": {"entities": {"gene": [{"text": "SPARCL1", "start": 0, "end": 7}], "disease": [{"text": "aggressiveness", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "These findings illustrate that an autocrine loop of VEGFA via VEGFR-2 is critical for the tumorigenic effects of TGF-β1 and hypoxia on metastatic prostate cancers.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 52, "end": 57}], "disease": [{"text": "hypoxia", "start": 124, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "We report that under normoxic conditions, ET (B) R activation by ET-1/ET-3 enhances vascular endothelial growth factor (VEGF) up-regulation, cyclooxygenase (COX)-1/COX-2 protein expression and COX-2 promoter activity, prostaglandin E (2) (PGE (2)) production, and do so to a greater extent under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 120, "end": 124}], "disease": [{"text": "hypoxia", "start": 296, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.", "output": {"entities": {"gene": [{"text": "CD133", "start": 24, "end": 29}], "disease": [{"text": "major depression", "start": 201, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD133", "start": 24, "end": 29}, "tail": {"text": "major depression", "start": 201, "end": 217}}]}}, "schema": []}
{"input": "Four family members (S100A2, S100A4, S100A6 and S100A10) demonstrated evidence of upregulated expression in multiple medulloblastoma cell lines, following treatment with the DNA methyltransferase inhibitor, 5'-aza-2'-deoxycytidine.", "output": {"entities": {"gene": [{"text": "S100A4", "start": 29, "end": 35}], "disease": [{"text": "medulloblastoma", "start": 117, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A4", "start": 29, "end": 35}, "tail": {"text": "medulloblastoma", "start": 117, "end": 132}}]}}, "schema": []}
{"input": "Significant augmentation of pro-apoptotic gene therapy by pharmacologic bcl-xl down-regulation in mesothelioma.", "output": {"entities": {"gene": [{"text": "bcl-xl", "start": 72, "end": 78}], "disease": [{"text": "mesothelioma", "start": 98, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "We investigated if sKlotho levels are decreased in type 2 diabetes and associate with MVD in the absence of diabetic nephropathy, and whether hyperglycemia affects renal Klotho production in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "MVD", "start": 86, "end": 89}], "disease": [{"text": "type 2 diabetes", "start": 51, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Our aim has been to investigate whether matrix Gla protein (MGP) T-138C, osteopontin (SPP1) T-443C, and Asp94Asp single nucleotide polymorphisms are associated with the development of arterial calcification and bone density.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 86, "end": 90}], "disease": [{"text": "arterial calcification", "start": 184, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Soluble CD146 was measured by competitive enzyme-linked immunosorbent assay in synovial fluids of 3 healthy individuals and 7 cadavers (controls), as wells as in patients with traumatic joint injury (n = 10), osteoarthritis (OA; n = 10), psoriatic arthritis (PsA; n = 10), other non-RA polyarthritis (NRAP; n = 10), and RA (n = 31).", "output": {"entities": {"gene": [{"text": "CD146", "start": 8, "end": 13}], "disease": [{"text": "polyarthritis", "start": 286, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Overexpressed CBR1 by HIF-1α plays important roles in tumor growth under hypoxia and chemoresistance to anticancer drugs.", "output": {"entities": {"gene": [{"text": "CBR1", "start": 14, "end": 18}], "disease": [{"text": "hypoxia", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We describe a breast cancer patient with a mammographically undetectable stage I tumor identified in our MRI screening study.", "output": {"entities": {"gene": [{"text": "MRI", "start": 105, "end": 108}], "disease": [{"text": "breast cancer", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that OPCML is an excellent candidate for the 11q25 ovarian cancer TSG.", "output": {"entities": {"gene": [{"text": "OPCML", "start": 28, "end": 33}], "disease": [{"text": "ovarian cancer", "start": 74, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPCML", "start": 28, "end": 33}, "tail": {"text": "ovarian cancer", "start": 74, "end": 88}}]}}, "schema": []}
{"input": "Our findings suggested that HECA, EBF1 and NOD2 were significantly hypomethylated, whereas MAP4K4, ZEB1 and FYN were hypermethylated, in atheromatous plaque lesions compared with plaque-free intima.", "output": {"entities": {"gene": [{"text": "FYN", "start": 108, "end": 111}], "disease": [{"text": "plaque", "start": 150, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.", "output": {"entities": {"gene": [{"text": "SUZ12", "start": 85, "end": 90}], "disease": [{"text": "overgrowth", "start": 36, "end": 46}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SUZ12", "start": 85, "end": 90}, "tail": {"text": "overgrowth", "start": 36, "end": 46}}]}}, "schema": []}
{"input": "One, 6, 12 and 24 h after reperfusion, Annexin V/PI flow cytometry was used to measure cell necrosis rate, apoptosis rate and survival rate.", "output": {"entities": {"gene": [{"text": "Annexin V", "start": 39, "end": 48}], "disease": [{"text": "necrosis", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.", "output": {"entities": {"gene": [{"text": "tau", "start": 30, "end": 33}], "disease": [{"text": "frontotemporal dementia", "start": 46, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tau", "start": 30, "end": 33}, "tail": {"text": "frontotemporal dementia", "start": 46, "end": 69}}]}}, "schema": []}
{"input": "SDF-1/CXCL12 binds to the chemokine receptors, CXCR4 and CXCR7, and controls cell proliferation and migration during development, tumorigenesis, and inflammatory processes.", "output": {"entities": {"gene": [{"text": "CXCL12", "start": 6, "end": 12}], "disease": [{"text": "tumorigenesis", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Our data strongly suggest that in BM, after oxidative DNA damage, as a result of gastroesophageal reflux, there is an increase in the percentage of cells in the G0G1 or G2M phases of the cell cycle to enable repair of damaged DNA; in some of these cases this is followed sequentially by p53 gene mutation and protein accumulation, DNA aneuploidy, HGD, and CA with or without Glut1 overexpression.", "output": {"entities": {"gene": [{"text": "Glut1", "start": 375, "end": 380}], "disease": [{"text": "aneuploidy", "start": 335, "end": 345}]}, "relations": {}}, "schema": []}
{"input": "The findings suggest that the pathogenetic role of ERAP1 in ankylosing spondylitis is due to allotype-dependent alterations of the HLA-B27 peptidome that affect the immunologic and other features of HLA-B27.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 51, "end": 56}], "disease": [{"text": "spondylitis", "start": 71, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Productions of Cyr61, VEGF, and IL-8 by NPFs under hypoxia were detected by Western blot (Cyr61 and VEGF) or enzyme-linked immunosorbent assay (ELISA; IL-8).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 22, "end": 26}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Further investigations are required before using birth weight and COMT genotype as predictors of conduct disorder in children with attention-deficit/hyperactivity disorder, especially given the societal and legal ramifications of conduct disorder.", "output": {"entities": {"gene": [{"text": "COMT", "start": 66, "end": 70}], "disease": [{"text": "birth weight", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 50, "end": 55}], "disease": [{"text": "Wilson disease", "start": 88, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 50, "end": 55}, "tail": {"text": "Wilson disease", "start": 88, "end": 102}}]}}, "schema": []}
{"input": "In the striatum, expression of Tie2-hsEH resulted in a sex difference, with larger infarct in females than males.", "output": {"entities": {"gene": [{"text": "Tie2", "start": 31, "end": 35}], "disease": [{"text": "infarct", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Four weeks after MI, rats were randomly divided into a control group (n = 11), HGF group (Adenovirus vector carrying human HGF (Ad-HGF)-transfected MSC transplanted into the infarct zone; n = 11), G-CSF group (intraperitoneal injection with G-CSF; n = 11), and HGF + G-CSF group (Ad-HGF-transfected MSC transplanted into the infarct zone and intraperitoneal injection with G-CSF; n = 11).", "output": {"entities": {"gene": [{"text": "MSC", "start": 148, "end": 151}], "disease": [{"text": "infarct", "start": 174, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "To study the effect of vaccination-associated seizure onset on disease course and estimate the risk of subsequent seizures after infant pertussis combination and measles, mumps, and rubella (MMR) vaccinations in Dravet syndrome (DS).", "output": {"entities": {"gene": [{"text": "MMR", "start": 191, "end": 194}], "disease": [{"text": "pertussis", "start": 136, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The results show that (1) total cell number in VAD and VAS OE are comparable; (2) localized areas of hyperplasia are present in the basal regions of VAD, but not VAS, OE; (3) there is a substantial increase in the number of PCNA (proliferating cell nuclear antigen) positive cells in the basal region of VAD OE relative to VAS OE; and (4) there is a relative increase in the levels of mRNA encoding the transcription factor, MASH I, in VAD OE.", "output": {"entities": {"gene": [{"text": "proliferating cell nuclear antigen", "start": 230, "end": 264}], "disease": [{"text": "hyperplasia", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of endogenous NTN-1 increased expression of pro-inflammatory mediators and MPO, and aggravated neuroinflammation and brain edema.", "output": {"entities": {"gene": [{"text": "NTN-1", "start": 24, "end": 29}], "disease": [{"text": "brain edema", "start": 127, "end": 138}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NTN-1", "start": 24, "end": 29}, "tail": {"text": "brain edema", "start": 127, "end": 138}}]}}, "schema": []}
{"input": "These results correlate with undetectable prostate-specific antigen in affected subjects, suggesting atrophic epithelium or lack of epithelial differentiation.", "output": {"entities": {"gene": [{"text": "prostate-specific antigen", "start": 42, "end": 67}], "disease": [{"text": "atrophic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Adhesion assay revealed that the adhesion of THP-1 to HTSMCs challenged with ET-1 was increased, which was attenuated by the inhibitors of ET receptors, Src, MMPs, EGFR, PDGFR, PI3K, AKT, p42/p44 MAPK, and p300.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 164, "end": 168}], "disease": [{"text": "adhesion", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "To test whether the copy number variations (CNVs) of CD4 + T cell transcription factor genes including T-bet, GATA binding protein 3 (GATA)-3, related orphan receptor C (RORC) and forkhead box protein 3 (FOXP3) are associated with acute anterior uveitis either in the presence or absence of ankylosing spondylitis (AAU + AS +; AAU + AS-).", "output": {"entities": {"gene": [{"text": "RORC", "start": 170, "end": 174}], "disease": [{"text": "acute anterior uveitis", "start": 231, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Growing numbers of \" electromagnetic hypersensitive \" (EHS) people worldwide self-report severely disabling, multiorgan, non-specific symptoms when exposed to low-dose electromagnetic radiations, often associated with symptoms of multiple chemical sensitivity (MCS) and/or other environmental \" sensitivity-related illnesses \" (SRI).", "output": {"entities": {"gene": [{"text": "SRI", "start": 328, "end": 331}], "disease": [{"text": "multiple chemical sensitivity", "start": 230, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "The candidate locus on chromosome 2p24 overlaps with a deafness locus, DFNB47, linked to autosomal recessive hearing impairment, while positive findings reported for affective psychosis and schizophrenia cluster in a region of 4-5 cM on 22q13. 1 within our second candidate locus.", "output": {"entities": {"gene": [{"text": "DFNB47", "start": 71, "end": 77}], "disease": [{"text": "schizophrenia", "start": 190, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DFNB47", "start": 71, "end": 77}, "tail": {"text": "schizophrenia", "start": 190, "end": 203}}]}}, "schema": []}
{"input": "Although no significant association was found between hOGG1 Ser³²⁶Cys polymorphism and prostate cancer susceptibility in the pooled analysis, individuals with Ser/Cys + Cys/Cys genotypes were found to have greater risk of prostate cancer if they were also smokers (OR = 2. 66, 95% CI = 1. 58-4. 47) rather than non-smokers (OR = 2. 18, 95% CI = 1. 13-4. 19), compared with those with Ser/Ser genotype.", "output": {"entities": {"gene": [{"text": "hOGG1", "start": 54, "end": 59}], "disease": [{"text": "prostate cancer susceptibility", "start": 87, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "A novel POU1F1 mutation (p. Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.", "output": {"entities": {"gene": [{"text": "POU1F1", "start": 8, "end": 14}], "disease": [{"text": "pituitary hormone deficiency", "start": 96, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The enhancement of VEGF protein production was attributed to increased protein stability due to oxygen deficiency.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 19, "end": 23}], "disease": [{"text": "oxygen deficiency", "start": 96, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Upregulated inducible co-stimulator (ICOS) and ICOS-ligand in inclusion body myositis muscle: significance for CD8 + T cell cytotoxicity.", "output": {"entities": {"gene": [{"text": "ICOS", "start": 37, "end": 41}], "disease": [{"text": "inclusion body myositis", "start": 62, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "WISE enrolled women with symptoms and signs of ischemia referred for coronary angiography; WTH enrolled asymptomatic, community-based women without heart disease.", "output": {"entities": {"gene": [{"text": "WISE", "start": 0, "end": 4}], "disease": [{"text": "heart disease", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, cell division cycle 7 is a replication associated protein with relationships to gene amplification and genomic instability in breast carcinomas.", "output": {"entities": {"gene": [{"text": "cell division cycle 7", "start": 15, "end": 36}], "disease": [{"text": "genomic instability", "start": 118, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We examined whether MMP-9 genetic polymorphisms (g.-1562C > T and g.-90 (CA) 13-25) modify plasma MMP-9 and tissue inhibitor of metalloproteinase (TIMP)-1 levels and the responses to antihypertensive therapy in 214 patients with preeclampsia (PE), 185 patients with gestational hypertension (GH) and a control group of 214 healthy pregnant (HP).", "output": {"entities": {"gene": [{"text": "TIMP", "start": 147, "end": 151}], "disease": [{"text": "preeclampsia", "start": 229, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Recombinant TGF-β1 was capable of rescuing EMT and invasion that was inhibited by siRNA for Atg3 and 7 in HepG2 and BEL7402 cells under starvation.", "output": {"entities": {"gene": [{"text": "Atg3", "start": 92, "end": 96}], "disease": [{"text": "starvation", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Incidence of microalbuminuria was significantly decreased by ACE versus non-ACE inhibitor therapy in Pro/Pro homozygotes (6. 3 vs. 11. 9%, respectively, HR 0. 46 [0. 29-0. 72]; P < 0. 001).", "output": {"entities": {"gene": [{"text": "ACE", "start": 61, "end": 64}], "disease": [{"text": "microalbuminuria", "start": 13, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "BALB/c-nu mice were inoculated with human glioma U87-EGFRvIII cells in the brain and treated intracranially with IP10-scFv and/or intravenously with DC-induced CTLs for evaluating the therapeutic effect.", "output": {"entities": {"gene": [{"text": "U87", "start": 49, "end": 52}], "disease": [{"text": "glioma", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Our findings demonstrate that AID has promiscuous genomic DSB-inducing activity, identify homologous recombination as a safeguard against off-target AID action, and have implications for genomic instability in B cell cancers.", "output": {"entities": {"gene": [{"text": "AID", "start": 30, "end": 33}], "disease": [{"text": "genomic instability", "start": 187, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.", "output": {"entities": {"gene": [{"text": "OCRL1", "start": 0, "end": 5}], "disease": [{"text": "Lowe syndrome", "start": 34, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCRL1", "start": 0, "end": 5}, "tail": {"text": "Lowe syndrome", "start": 34, "end": 47}}]}}, "schema": []}
{"input": "Among these fusion genes, the TEL/AML1 translocation resulting from t (12; 21) is found in approximately one quarter of the childhood B-cell lineage acute lymphoblastic leukemia (ALL) cases and its prognosis is excellent.", "output": {"entities": {"gene": [{"text": "AML1", "start": 34, "end": 38}], "disease": [{"text": "translocation", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Our findings that COMT is associated with both NS personality traits and with the age of onset of heroin use helps to clarify the complex relationship between genetic and psychological factors in the development of substance abuse.", "output": {"entities": {"gene": [{"text": "COMT", "start": 18, "end": 22}], "disease": [{"text": "personality traits", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "As the clinical PVSG and the pathological WHO criteria show significant shortcomings, an updated set of European Clinical and Pathological (ECP) criteria combined with currently available biological and molecular markers are proposed to much better distinct true ET from early PV mimicking ET, to distinguish ET from thrombocythemia associated with prefibrotic CIMF, and to define the various clinical and pathological stages of PV and CIMF that has important therapeutic and prognostic implications.", "output": {"entities": {"gene": [{"text": "ECP", "start": 140, "end": 143}], "disease": [{"text": "thrombocythemia", "start": 317, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "PATIENTS: NC patients (n = 114) diagnosed by stimulated-17OHP ≥ 10 ng/mL were divided into groups according to the beginning of hyperandrogenic manifestations (pediatric and adolescent/adult) and CYP21A2 genotypes (C/C: homozygosis for mild mutations; A/C: compound heterozygosis for severe/mild mutations).", "output": {"entities": {"gene": [{"text": "CYP21A2", "start": 196, "end": 203}], "disease": [{"text": "mild", "start": 236, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined E-cadherin, beta-catenin, DCC, p53 and Ki67 immunoexpression in cases of carcinoid of the appendix and made a comparison with non-appendiceal carcinoid tumors.", "output": {"entities": {"gene": [{"text": "DCC", "start": 53, "end": 56}], "disease": [{"text": "carcinoid tumors", "start": 169, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) is a key contributor in tumor progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 64, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The usefulness of urinary cystatin C for the early detection of renal damage in anti-glomerular basement membrane (GBM) glomerulonephritis rats was investigated and compared to other biomarkers (β2-microglobulin, calbindin, clusterin, epidermal growth factor (EGF), alpha-glutathione S-transferase (GST-α), mu-glutathione S-transferase (GST-μ), kidney injury molecule-1 (KIM-1), neutrophil gelatinase-associated lipocalin (NGAL), osteopontin, tissue inhibitor of metalloprotease-1 (TIMP-1), and vascular endothelial growth factor (VEGF)).", "output": {"entities": {"gene": [{"text": "NGAL", "start": 423, "end": 427}], "disease": [{"text": "glomerulonephritis", "start": 120, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Homozygosity for the A-allele of the C-920--> A promoter polymorphism of the SOCS3 gene may be associated with increased whole-body insulin sensitivity, but deserves further investigation.", "output": {"entities": {"gene": [{"text": "SOCS3 gene", "start": 77, "end": 87}], "disease": [{"text": "insulin sensitivity", "start": 132, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The most striking result was that supernumerary centrosomes in aneuploid colorectal cancer cell lines were unable to nucleate microtubules, despite the presence of gamma-tubulin, pericentrin, PLK1, and AURKA.", "output": {"entities": {"gene": [{"text": "PLK1", "start": 192, "end": 196}], "disease": [{"text": "aneuploid", "start": 63, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In the latter cells, growth arrest evidenced only under adhesion-restrictive conditions correlated with down-regulation of cyclin D3 and anti-apoptotic bcl-2.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 123, "end": 132}], "disease": [{"text": "adhesion", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Our study also suggests that the levels of DNA repair factors 53BP1, BRCA1 and RAD51 could potentially serve as biomarkers to identify laminopathies that present with genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 69, "end": 74}], "disease": [{"text": "genomic instability", "start": 167, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.", "output": {"entities": {"gene": [{"text": "VHL", "start": 40, "end": 43}], "disease": [{"text": "pulmonary arterial hypertension", "start": 87, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VHL", "start": 40, "end": 43}, "tail": {"text": "pulmonary arterial hypertension", "start": 87, "end": 118}}]}}, "schema": []}
{"input": "Hypothesizing that the opening of tight junctions due to the disappearance of the tight junction proteins occludin and zona occludens-1 (ZO-1) in damaged endothelia allows macrophage migration, leading to cerebral aneurysm formation, we investigated the role of tight junction proteins.", "output": {"entities": {"gene": [{"text": "occludin", "start": 106, "end": 114}], "disease": [{"text": "zona", "start": 119, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "In the three ABCC6 mutant forms examined, the loss of transport activity suggests that these mutations result in a PXE phenotype through a direct influence on the transport activity of this ABC transporter.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 13, "end": 18}], "disease": [{"text": "PXE", "start": 115, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 13, "end": 18}, "tail": {"text": "PXE", "start": 115, "end": 118}}]}}, "schema": []}
{"input": "The degradation of MCL1 was blocked in patient-derived tumour cells that lacked FBW7 or had loss-of-function mutations in FBW7, conferring resistance to antitubulin agents and promoting chemotherapeutic-induced polyploidy.", "output": {"entities": {"gene": [{"text": "MCL1", "start": 19, "end": 23}], "disease": [{"text": "polyploidy", "start": 211, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Toxic epidermal necrolysis in a patient with severe aplastic anemia treated with cyclosporin A and G-CSF.", "output": {"entities": {"gene": [{"text": "G-CSF", "start": 99, "end": 104}], "disease": [{"text": "Toxic epidermal necrolysis", "start": 0, "end": 26}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "G-CSF", "start": 99, "end": 104}, "tail": {"text": "Toxic epidermal necrolysis", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "STAP-2 interacts with and modulates BCR-ABL-mediated tumorigenesis.", "output": {"entities": {"gene": [{"text": "STAP-2", "start": 0, "end": 6}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Metaphase FISH using chromosome 20 telomeric probes and specific probes of CHRNA4 and KCNQ2 genes detects the absence of any deletion in the ring chromosome 20.", "output": {"entities": {"gene": [{"text": "FISH", "start": 10, "end": 14}], "disease": [{"text": "ring chromosome 20", "start": 141, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We screened the CHST6 gene for mutations in Indian families with MCD, in order to determine the range of pathogenic mutations.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 16, "end": 21}], "disease": [{"text": "MCD", "start": 65, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 16, "end": 21}, "tail": {"text": "MCD", "start": 65, "end": 68}}]}}, "schema": []}
{"input": "ERK1/2 mRNA expression was down-regulated in the depression model group compared with the normal control group (P & lt; 0. 01).", "output": {"entities": {"gene": [{"text": "ERK1", "start": 0, "end": 4}], "disease": [{"text": "depression", "start": 49, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK1", "start": 0, "end": 4}, "tail": {"text": "depression", "start": 49, "end": 59}}]}}, "schema": []}
{"input": "In a collection of benign, premalignant and malignant endometrial lesions, a methylation profile of a complete gene panel, such steroid receptors (ERα, PR), DNA mismatch repair (hMLH1), tumor-suppressor genes (CDKN2A/P16 and CDH1/E-CADHERIN) and WNT pathway inhibitors (SFRP1, SFRP2, SFRP4, SFRP5) was investigated in order to demonstrate their pathogenetic role in endometrial lesions.", "output": {"entities": {"gene": [{"text": "SFRP2", "start": 277, "end": 282}], "disease": [{"text": "premalignant", "start": 27, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "A total of 97 patients with urothelial cell carcinomas were examined with respect to smoking status, NAT2 (N-acetyltransferase 2), GSTM1 and GSTT1 (glutathione S-transferase Mu 1 and teta 1) genotypes distribution.", "output": {"entities": {"gene": [{"text": "glutathione S-transferase Mu 1", "start": 148, "end": 178}], "disease": [{"text": "carcinomas", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Excretion of porphyrins and residual UROD activity in erythrocytes were measured and compared with those of other patients with HEP.", "output": {"entities": {"gene": [{"text": "UROD", "start": 37, "end": 41}], "disease": [{"text": "HEP", "start": 128, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UROD", "start": 37, "end": 41}, "tail": {"text": "HEP", "start": 128, "end": 131}}]}}, "schema": []}
{"input": "Plasma PYY was highly heritable (P < 0. 0001), and genetic pleiotropy was noted between plasma PYY and body mass index (BMI) (P = 0. 03).", "output": {"entities": {"gene": [{"text": "PYY", "start": 7, "end": 10}], "disease": [{"text": "body mass index", "start": 103, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia increases VEGF protein and mRNA levels in monocyte-derived macrophages, whereas TGFbeta-1 increases VEGF protein but not mRNA under hypoxic growth conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 18, "end": 22}], "disease": [{"text": "hypoxic", "start": 140, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "These results lay the foundation for the further study of its targeting and anti-HCC in vivo and provide a feasible and convenient approach to produce liver-targeting drugs for treatment of the liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 81, "end": 84}], "disease": [{"text": "liver diseases", "start": 194, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Pathogenesis of gastritis in ileitis-prone SAMP1/Yit mice.", "output": {"entities": {"gene": [{"text": "SAMP1", "start": 43, "end": 48}], "disease": [{"text": "gastritis", "start": 16, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Eight candidate genes mapping to the breakpoint region--U2AF2, EPN1, NALP4, NALP11, NALP5, ZNF444, PTPRH, and KIAA1811--were screened for mutations in germ-line and polyp DNA from the case and from 15 PJS cases that did not harbor germ-line STK11 mutations.", "output": {"entities": {"gene": [{"text": "NALP5", "start": 84, "end": 89}], "disease": [{"text": "polyp", "start": 165, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Therefore, in Ben-Men-1 cells with HIF-1α knock-down the effects of hypoxia, growth factors and DEX on VEGF-A production were strongly impaired.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 103, "end": 109}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We found that brain ischemia induced the breakdown of ErbB4 in a time-dependent manner in vivo, but not that of ErbB2.", "output": {"entities": {"gene": [{"text": "ErbB2", "start": 112, "end": 117}], "disease": [{"text": "brain ischemia", "start": 14, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Moreover we have shown that VEGF is hypoxia-inducible in retinoblastoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 28, "end": 32}], "disease": [{"text": "hypoxia", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the frequency of p21 (wap1/cip1) variants (codon 149) in ESCCs (18 of 19 cases) with wild-type p53 was significantly higher than in tumors with p53 mutations, suggesting that this polymorphism affects the p53 pathway and may play an important role in esophageal tumorigenesis.", "output": {"entities": {"gene": [{"text": "wap1", "start": 37, "end": 41}], "disease": [{"text": "tumorigenesis", "start": 277, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "Localization of osteoprotegerin, tumor necrosis factor-related apoptosis-inducing ligand, and receptor activator of nuclear factor-kappaB ligand in Mönckeberg' s sclerosis and atherosclerosis.", "output": {"entities": {"gene": [{"text": "osteoprotegerin", "start": 16, "end": 31}], "disease": [{"text": "sclerosis", "start": 162, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The objective of the present study was to analyze the influence of the I/D polymorphism of the ACE gene on the outcome of microalbuminuria in essential hypertensive patients who were receiving antihypertensive treatment.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 95, "end": 103}], "disease": [{"text": "microalbuminuria", "start": 122, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Circulating soluble receptor for advanced glycation end products is inversely associated with body mass index and waist/hip ratio in the general population.", "output": {"entities": {"gene": [{"text": "receptor for advanced glycation end products", "start": 20, "end": 64}], "disease": [{"text": "waist/hip ratio", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Our findings clearly indicate that, Ox-LDL significantly induced lincRNA-DYNLRB2-2 expression, which promoted ABCA1-mediated cholesterol efflux and inhibited inflammation through GPR119 in THP-1 macrophage-derived foam cells.", "output": {"entities": {"gene": [{"text": "GPR119", "start": 179, "end": 185}], "disease": [{"text": "inflammation", "start": 158, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Indeed, there was a trend towards higher MASP-2 concentrations amongst babies with infections.", "output": {"entities": {"gene": [{"text": "MASP", "start": 41, "end": 45}], "disease": [{"text": "infections", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Comparison between IA and more advanced International Federation of Gynecology and Obstetrics stages of endometrial cancer in regard to expression levels of maspin, Pdcd4, and miR-21 did not reveal any significant differences.", "output": {"entities": {"gene": [{"text": "maspin", "start": 157, "end": 163}], "disease": [{"text": "endometrial cancer", "start": 104, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "X-linked agammaglobulinemia (XLA), also known as Bruton' s tyrosine kinase (BTK) deficiency, is a primary antibody deficiency, characterized by low number of B cells, agammaglobulinemia and increased susceptibility to a variety of infections.", "output": {"entities": {"gene": [{"text": "BTK", "start": 76, "end": 79}], "disease": [{"text": "infections", "start": 231, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "ETV6-AML1 translocation breakpoints cluster near a purine/pyrimidine repeat region in the ETV6 gene.", "output": {"entities": {"gene": [{"text": "AML1", "start": 5, "end": 9}], "disease": [{"text": "translocation", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We herein present the case of a patient with phospho-soda-induced hypocalcemia who was surprisingly diagnosed with multiple endocrine neoplasia type 1 (MEN1) caused by a heterozygous mutation in the MEN1 gene (c628_631delACAG), thus resulting in a frameshift mutation (210ThrfsX224).", "output": {"entities": {"gene": [{"text": "MEN1 gene", "start": 199, "end": 208}], "disease": [{"text": "hypocalcemia", "start": 66, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "DNA mobility shift patterns generated by nuclear extracts from skin, scar, and keloid fibroblasts were identical at a consensus CRE at-170 of the human fibronectin promoter whereas extracts from keloid fibroblasts formed complexes at a CRE/AP-1-like sequence at-415 that differed from those generated by skin and scar fibroblast extracts.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 240, "end": 244}], "disease": [{"text": "keloid", "start": 79, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.", "output": {"entities": {"gene": [{"text": "PARP-1", "start": 20, "end": 26}], "disease": [{"text": "hepatitis", "start": 264, "end": 273}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP-1", "start": 20, "end": 26}, "tail": {"text": "hepatitis", "start": 264, "end": 273}}]}}, "schema": []}
{"input": "We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya disease.", "output": {"entities": {"gene": [{"text": "RNF213", "start": 71, "end": 77}], "disease": [{"text": "moyamoya disease", "start": 107, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RNF213", "start": 71, "end": 77}, "tail": {"text": "moyamoya disease", "start": 107, "end": 123}}]}}, "schema": []}
{"input": "TRIF (-/-) mice infected with K. pneumoniae showed impaired survival and reduced bacterial clearance, neutrophil influx, histopathologic evidence of inflammation, and TNF-alpha, IL-6, KC, MIP-2, but not LIX, expression in the lungs.", "output": {"entities": {"gene": [{"text": "TRIF", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 149, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Graves' disease is a common autoimmune disorder characterized by thyroid stimulating hormone receptor autoantibodies (TRAb) and hyperthyroidism.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 85, "end": 101}], "disease": [{"text": "hyperthyroidism", "start": 128, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that this novel variant in FTO is affecting metabolic phenotypes such as insulin resistance, which are not mediated through differences in BMI levels.", "output": {"entities": {"gene": [{"text": "FTO", "start": 50, "end": 53}], "disease": [{"text": "insulin resistance", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Amplification of 8p12-p11 is relatively common in breast cancer and several genes within the region have been suggested to affect breast tumor progression.", "output": {"entities": {"gene": [{"text": "p11", "start": 22, "end": 25}], "disease": [{"text": "breast cancer", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Using our human in vitro model for schwannoma, we analyzed extracellular signal-regulated kinase 1/2 (ERK1/2) and AKT signaling pathways, their upstream growth factor receptors, and their role in schwannoma cell proliferation and adhesion to find new systemic therapies for these tumors that, to date, are very difficult to treat.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 102, "end": 106}], "disease": [{"text": "adhesion", "start": 230, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "To report that homoplasmic deleterious mutations in the mitochondrial DNA MT-ATP6/8 genes may be responsible for acute episodes of limb weakness mimicking periodic paralysis due to channelopathies and dramatically responding to acetazolamide.", "output": {"entities": {"gene": [{"text": "MT-ATP6", "start": 74, "end": 81}], "disease": [{"text": "periodic paralysis", "start": 155, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synthesis, in particular, SRD5A2 (A49T and V89L variants), CYP17 (MspAI variant), and the AR (CAG, GGC repeats), represent candidate risk factors for prostate cancer incidence and aggressiveness.", "output": {"entities": {"gene": [{"text": "SRD5A2", "start": 122, "end": 128}], "disease": [{"text": "aggressiveness", "start": 276, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "Variations for genes encoding receptors related to cold and heat sensation, such as transient receptor potential A subtype 1 (TRPA1), M subtype 8 (TRPM8), V subtype 1 (TRPV1), delta opioid receptor subtype 1 (OPRD1), catechol O-methyltransferase (COMT), and fatty acid amide hydrolyase (FAAH), were investigated in four major ethnic populations.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 168, "end": 173}], "disease": [{"text": "cold", "start": 51, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "A significant difference was found between patients with a low expression of HSP27 (negative patients) and those with a high HSP27 expression (positive patients) of plasma levels both of antioxidants (GSH, p < 0. 05), and of markers of enhanced production of free radicals and cytokines (alpha GST, TNF-alpha and IL-6, p < 0. 05; MDA, 4-HNE and S-NO, p < 0. 01) as well as for alcohol use and degree of liver impairment.", "output": {"entities": {"gene": [{"text": "HSP27", "start": 77, "end": 82}], "disease": [{"text": "alcohol use", "start": 377, "end": 388}]}, "relations": {}}, "schema": []}
{"input": "In this paper, we performed association studies between the three reported polymorphisms (Q214R, M365T and G378R) of the IL-12Rbeta1 gene or the newly identified polymorphisms (P238L, IVS9-7G > A, IVS13-121G > A, A643T, P779P and c. 3283T > G) of the IL-12Rbeta2 gene, and the development of type 1 diabetes or atopic asthma as representative Th1-and Th2-dominant diseases, respectively.", "output": {"entities": {"gene": [{"text": "Th1", "start": 343, "end": 346}], "disease": [{"text": "atopic asthma", "start": 311, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "SNAI3 gene, was located between KIAA0233 gene and CBFA2T3 gene in human chromosome 16q24. 3, a region affected in breast cancer, gastric cancer, hepatocellular carcinoma, ovarian cancer, and therapy-related myeloid leukemia with t (16; 21) (q24; q22) translocation.", "output": {"entities": {"gene": [{"text": "CBFA2T3 gene", "start": 50, "end": 62}], "disease": [{"text": "gastric cancer", "start": 129, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To determine the adaptive changes in several molecules regulating muscle hypertrophy and atrophy after unloading, we examined whether unilateral lower limb suspension changes the mRNA and protein levels of SRF-linked (RhoA, RhoGDI, STARS and SRF), myostatin-linked (myostatin, Smad2, Smad3 and FLRG) and Foxo-linked (P-Akt, Foxo1, Foxo3a and Atrogin-1) mediators.", "output": {"entities": {"gene": [{"text": "RhoGDI", "start": 224, "end": 230}], "disease": [{"text": "atrophy", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of Fas ligand expression by human cytomegalovirus immediate-early gene product 2: a novel mechanism in cytomegalovirus-induced apoptosis in human retina.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 17, "end": 27}], "disease": [{"text": "cytomegalovirus", "start": 48, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Intracerebral, rapidly growing tumors were produced by stereotactic injection of the human U87 MG glioma cell line that had been genetically modified for tracking purposes to express the Escherichia coli lacZ gene encoding beta-galactosidase.", "output": {"entities": {"gene": [{"text": "U87", "start": 91, "end": 94}], "disease": [{"text": "glioma", "start": 98, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Because hepatocyte growth factor (HGF) is an important mitogen and morphogen that contributes to the repair process after tissue injury, we investigated the role of HGF in cutaneous fibrosis and pulmonary architecture defects in SSc using TSK/+ mice.", "output": {"entities": {"gene": [{"text": "TSK", "start": 239, "end": 242}], "disease": [{"text": "fibrosis", "start": 182, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The purpose of our study was to establish the prevalence and nature of C2orf71 mutations in a clinically well-characterized cohort of 345 sporadic and arRP French cases.", "output": {"entities": {"gene": [{"text": "C2orf71", "start": 71, "end": 78}], "disease": [{"text": "sporadic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "CRF elicited a wide range of behaviors, which fell into three broad categories: anxiety-like, depressive-like, and externally oriented.", "output": {"entities": {"gene": [{"text": "CRF", "start": 0, "end": 3}], "disease": [{"text": "anxiety", "start": 80, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF", "start": 0, "end": 3}, "tail": {"text": "anxiety", "start": 80, "end": 87}}]}}, "schema": []}
{"input": "Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.", "output": {"entities": {"gene": [{"text": "MITF", "start": 23, "end": 27}], "disease": [{"text": "Waardenburg syndrome type 2", "start": 59, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MITF", "start": 23, "end": 27}, "tail": {"text": "Waardenburg syndrome type 2", "start": 59, "end": 86}}]}}, "schema": []}
{"input": "SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract.", "output": {"entities": {"gene": [{"text": "INI", "start": 9, "end": 12}], "disease": [{"text": "carcinomas", "start": 26, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The p53 mutation in chronic myeloid leukemia (CML) led to decreased overall survival and therapy resistance which was also closely correlated with the downstream proto-oncogenes BCL-2, TCL-1 and MCL-1.", "output": {"entities": {"gene": [{"text": "TCL", "start": 185, "end": 188}], "disease": [{"text": "chronic myeloid leukemia", "start": 20, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aimed to explore the impact of DNA methylation profile in BCL2/E1B adenovirus interacting protein 3 (BNIP3), extracellular superoxide dismutase (EC-SOD) and glutathione-S-transferase P1 (GSTP1) on the oxidative stress in CAD.", "output": {"entities": {"gene": [{"text": "EC-SOD", "start": 163, "end": 169}], "disease": [{"text": "adenovirus", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In addition, 16 cases of mass-forming endometriosis, 11 cases of usual endometriosis, and six endometriomas were investigated by fluorescence in situ hybridization (FISH) for HMGA1 and HMGA2 loci, performed on paraffin-embedded thin tissue sections with custom-designed probes.", "output": {"entities": {"gene": [{"text": "FISH", "start": 165, "end": 169}], "disease": [{"text": "endometriosis", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The latencies of ERP components N2 and P3 were prolonged, and the P3 amplitude was lower in the PSD group compared to the control stroke group and healthy controls (p < 0. 01).", "output": {"entities": {"gene": [{"text": "PSD", "start": 96, "end": 99}], "disease": [{"text": "stroke", "start": 130, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We determined microsatellite instability (MSI), CIM, and expression of MLH1 and MGMT in 3 CD-associated small bowel carcinomas and corresponding non-neoplastic mucosa.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 80, "end": 84}], "disease": [{"text": "non-neoplastic", "start": 145, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification.", "output": {"entities": {"gene": [{"text": "SLC20A2", "start": 32, "end": 39}], "disease": [{"text": "familial idiopathic basal ganglia calcification", "start": 48, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC20A2", "start": 32, "end": 39}, "tail": {"text": "familial idiopathic basal ganglia calcification", "start": 48, "end": 95}}]}}, "schema": []}
{"input": "Hepatic Cu accumulation was associated with inflammation, as indicated by histopathology and elevated serum alanine aminotransferase (ALT) and liver tumor necrosis factor alpha (Tnf-α) levels.", "output": {"entities": {"gene": [{"text": "alanine aminotransferase", "start": 108, "end": 132}], "disease": [{"text": "liver tumor", "start": 143, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, global protein profiling is an efficient approach that enabled us to identify a catalytic fragment ofvitronectin as a new serum marker of HCC in patients with chronic liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 153, "end": 156}], "disease": [{"text": "liver diseases", "start": 182, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo.", "output": {"entities": {"gene": [{"text": "LHX3", "start": 100, "end": 104}], "disease": [{"text": "pituitary hormone deficiency", "start": 19, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Ectopic SIPL1 expression protected human U87 glioma cells from PTEN-mediated growth inhibition and promoted the formation of HeLa cell-derived xenograft tumors in immunocompromised mice.", "output": {"entities": {"gene": [{"text": "U87", "start": 41, "end": 44}], "disease": [{"text": "glioma", "start": 45, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "ETHE1, result in ethylmalonic encephalopathy, an inborn error of metabolism.", "output": {"entities": {"gene": [{"text": "ETHE1", "start": 0, "end": 5}], "disease": [{"text": "ethylmalonic encephalopathy", "start": 17, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ETHE1", "start": 0, "end": 5}, "tail": {"text": "ethylmalonic encephalopathy", "start": 17, "end": 44}}]}}, "schema": []}
{"input": "In this study, we investigated the role of apoptosis and autophagy in CPZ-induced cytotoxicity in U-87MG glioma cells.", "output": {"entities": {"gene": [{"text": "CPZ", "start": 70, "end": 73}], "disease": [{"text": "glioma", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Image studies and immunoprecipitaion experiments suggest that EGF-induced NHE1 translocation to the leading-edge lamellipodia, where NHE1 interacted with actin-associated protein Ezrin, thereby remodeling cytoskeleton and stimulating cervical cancer cell migration.", "output": {"entities": {"gene": [{"text": "NHE1", "start": 74, "end": 78}], "disease": [{"text": "translocation", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "After ranking developmental toxicity data generated from the U. S. Environmental Protection Agency' s (EPA' s) zebrafish teratogenesis assay, we screened 26 of the most acutely toxic chemicals within EPA' s ToxCast Phase-I library in concentration-response format (0. 05-50 µM) using this HCS assay.", "output": {"entities": {"gene": [{"text": "EPA' s", "start": 200, "end": 206}], "disease": [{"text": "teratogenesis", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Using array-CGH, the present study aimed to explore genome-wide profiles of chromosomal aberrations in samples of oral cancer (OC), oral submucous fibrosis (OSF) and their corresponding normal oral mucosa from Indian (n = 18) and OC from Sri Lankan (n = 12) patients with history of BQ use, and correlate the findings to other clinicopathological parameters.", "output": {"entities": {"gene": [{"text": "OSF", "start": 157, "end": 160}], "disease": [{"text": "oral cancer", "start": 114, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The aims in this study were to examine the possible association of the STin2 and/or the 5-HTTLPR serotonin transporter polymorphisms in adult males with and without intellectual disabilities, and to examine the association of these polymorphisms with aggression in people with intellectual disabilities.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 97, "end": 118}], "disease": [{"text": "aggression", "start": 251, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Circulating levels of IL-10 were increased in obese people and were positively associated with weight, BMI, waist, waist-to-hip ratio, fat mass, systolic pressure, and, interestingly, the titer of adenoviruses and enteroviruses.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 22, "end": 27}], "disease": [{"text": "systolic pressure", "start": 145, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Therefore, VEGF regulation in Hep3B cells is primarily controlled by the Akt/PI3K and SP1 pathways and is independent of HIF-1 under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 11, "end": 15}], "disease": [{"text": "hypoxic", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The DBH genotypes were identified by a PCR-RFLP method, and personality traits were assessed by the Temperament and Character Inventory (TCI).", "output": {"entities": {"gene": [{"text": "DBH", "start": 4, "end": 7}], "disease": [{"text": "personality traits", "start": 60, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the btk gene of a patient with XLA and IGHD.", "output": {"entities": {"gene": [{"text": "btk", "start": 21, "end": 24}], "disease": [{"text": "XLA", "start": 48, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "btk", "start": 21, "end": 24}, "tail": {"text": "XLA", "start": 48, "end": 51}}]}}, "schema": []}
{"input": "In the present study, we investigated the association of genetic polymorphisms in vascular endothelial growth factor (VEGF), transforming growth factor beta (TGF-β), and interferon γ (IFN-γ) genes, which may be responsible for the hypoxia-induced VEGF-mediated neovascularization pathway for the pathogenesis of PDR.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 118, "end": 122}], "disease": [{"text": "hypoxia", "start": 231, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Expression of the CSC markers CD44, CD133, and CD166 was induced in intestinal tumors from APC (Min/+)/K-Ras (LA2) mice, but not K-Ras (LA2) mice, indicating that APC mutation is required for CSC activation by oncogenic K-Ras mutation.", "output": {"entities": {"gene": [{"text": "CD133", "start": 36, "end": 41}], "disease": [{"text": "intestinal tumors", "start": 68, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Southern hybridizations with a CAS cDNA fragment and fluorescent in situ hybridization (FISH) with a P1 clone containing the CAS gene show elevated copy numbers in one leukemia, three of four colon, and in three of seven breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "FISH", "start": 88, "end": 92}], "disease": [{"text": "leukemia", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Recombinant soluble human CD39 (solCD39) potently inhibited ex vivo platelet aggregation in response to ADP and reduced cerebral infarct volumes in mice following transient middle cerebral artery occlusion, even when given 3 hours after stroke.", "output": {"entities": {"gene": [{"text": "ADP", "start": 104, "end": 107}], "disease": [{"text": "stroke", "start": 237, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "In summary, MYC rearrangement, which occurs rarely in CLL patients, is associated with increased prolymphocytes, complex cytogenetic abnormalities, and a poor prognosis.", "output": {"entities": {"gene": [{"text": "MYC", "start": 12, "end": 15}], "disease": [{"text": "cytogenetic abnormalities", "start": 121, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Genetic variation of myeloperoxidase gene contributes to atopic asthma susceptibility: a preliminary association study in Russian population.", "output": {"entities": {"gene": [{"text": "myeloperoxidase gene", "start": 21, "end": 41}], "disease": [{"text": "asthma susceptibility", "start": 64, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Gene expression analysis revealed upregulation of a set of immune-associated transcripts associated with inflammation and tumorigenesis in cells in which NQO1 was attenuated, with IL8 confirmed functionally in cell culture as one key NQO1-supported cytokine.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 154, "end": 158}], "disease": [{"text": "tumorigenesis", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Overall, our results suggest that genetically modified astrocytes expressing GDNF can provide neuroprotection in a rat model of Parkinson' s disease following transplantation to the SN.", "output": {"entities": {"gene": [{"text": "GDNF", "start": 77, "end": 81}], "disease": [{"text": "Parkinson' s disease", "start": 128, "end": 148}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GDNF", "start": 77, "end": 81}, "tail": {"text": "Parkinson' s disease", "start": 128, "end": 148}}]}}, "schema": []}
{"input": "p34 (SEI-1) may promote cancer metastasis by activating the PI3K/AKT signaling pathway.", "output": {"entities": {"gene": [{"text": "p34", "start": 0, "end": 3}], "disease": [{"text": "metastasis", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Six non-demented mutated PS1 carriers (5 with memory deficits) and 14 healthy subjects were examined with high resolution T1-weighted images for volumetry and with T2 * weighted images for MTR.", "output": {"entities": {"gene": [{"text": "MTR", "start": 189, "end": 192}], "disease": [{"text": "memory deficits", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Leukemogenesis as a new approach to investigate the correlation between up regulated gene 4/upregulator of cell proliferation (URG4/URGCP) and signal transduction genes in leukemia.", "output": {"entities": {"gene": [{"text": "URGCP", "start": 132, "end": 137}], "disease": [{"text": "leukemia", "start": 172, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Forty of 72 (55%) PIOL patients expressed the bcl-2 t (14; 18) translocation at the major breakpoint region.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 46, "end": 51}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We searched for mutations in exons 18-21 of EGFR gene, codons 12 and 13 of K-RAS gene and exon 15 of B-RAF gene by high resolution melting analysis (HRMA) and pyrosequencing in 44 esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "K-RAS gene", "start": 75, "end": 85}], "disease": [{"text": "esophageal", "start": 180, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: Bcl-2/IgH translocation in paraffin-embedded LN tissue sections was observed in 43 (41. 7%) patients by FISH.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 9, "end": 14}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Higher expression of PLA2G2A, PTGS2, AKR1B1, AKR1C3 and ABCC4 was seen in 22-B endometriosis cells compared to HIESC control cells.", "output": {"entities": {"gene": [{"text": "PLA2G2A", "start": 21, "end": 28}], "disease": [{"text": "endometriosis", "start": 79, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLA2G2A", "start": 21, "end": 28}, "tail": {"text": "endometriosis", "start": 79, "end": 92}}]}}, "schema": []}
{"input": "Suppression of Tyk2 and Stat1, which are important downstream molecules for IFN-α signaling, sensitized pancreatic cancer cells to parvovirus H-1-mediated apoptosis.", "output": {"entities": {"gene": [{"text": "Tyk2", "start": 15, "end": 19}], "disease": [{"text": "pancreatic cancer", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Breast aspiration fluid CEA concentration and the methylation of the APC gene promoter 1A and the promoter region of the cyclin D2 gene can be used as tumor markers to overcome some of the limitations of aspiration cytology.", "output": {"entities": {"gene": [{"text": "cyclin D2 gene", "start": 121, "end": 135}], "disease": [{"text": "aspiration", "start": 7, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that colorectal tumor progression may be regulated by signaling mediated by Her2, hypoxia, and TGFβ.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 115, "end": 119}], "disease": [{"text": "hypoxia", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Myc inactivation or pharmacological suppression of ER stress alleviates fatty liver caused by SIRT7 deficiency.", "output": {"entities": {"gene": [{"text": "SIRT7", "start": 94, "end": 99}], "disease": [{"text": "fatty liver", "start": 72, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT7", "start": 94, "end": 99}, "tail": {"text": "fatty liver", "start": 72, "end": 83}}]}}, "schema": []}
{"input": "Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates.", "output": {"entities": {"gene": [{"text": "miR-184", "start": 107, "end": 114}], "disease": [{"text": "Obese", "start": 0, "end": 5}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-184", "start": 107, "end": 114}, "tail": {"text": "Obese", "start": 0, "end": 5}}]}}, "schema": []}
{"input": "To date, there have been no reports on the expression of AKR1B1 in endometrial cancer, while AKR1B10 has only been studied at the cellular level.", "output": {"entities": {"gene": [{"text": "AKR1B1", "start": 57, "end": 63}], "disease": [{"text": "endometrial cancer", "start": 67, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKR1B1", "start": 57, "end": 63}, "tail": {"text": "endometrial cancer", "start": 67, "end": 85}}]}}, "schema": []}
{"input": "Despite ~ 2-month longer progression-free and overall survival times than with CT alone, patients still progress, possibly because of alternative angiogenic \" escape \" pathways that emerge independent of VEGF-A, or are driven by hypoxic stress on the tumor.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 204, "end": 210}], "disease": [{"text": "hypoxic", "start": 229, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "PAR-1 and PAR-2 modulate cell proliferation in physiopathologic cell invasion processes, suggesting that they may play a role in the setting of cancer growth and metastasis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 0, "end": 3}], "disease": [{"text": "metastasis", "start": 162, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "When subjects were stratified accordingly to blood platelet glycoprotein IIb/IIIa genotype, in the aspirin group PlA2 carriers had greater blood loss than PlA1 homozygotes (1858 +/-932 mL vs 1216 +/-525 mL, P <. 05).", "output": {"entities": {"gene": [{"text": "platelet glycoprotein IIb", "start": 51, "end": 76}], "disease": [{"text": "blood loss", "start": 139, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In addition, detailed pathological examination showed significant associations with bronchioloalveolar carcinoma (BAC) component and a micropapillary pattern (MPP) (P = 0. 012 and 0. 043, respectively).", "output": {"entities": {"gene": [{"text": "MPP", "start": 159, "end": 162}], "disease": [{"text": "bronchioloalveolar carcinoma", "start": 84, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Here we show that systemic administration of liraglutide, a long-acting human glucagon-like peptide-1 (GLP-1) analog, significantly decreased food intake, body weight, and blood glucose levels at 24 h after its administration while having no significant effects on plasma insulin and glucagon levels in individually housed KKA (y) mice.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 103, "end": 108}], "disease": [{"text": "body weight", "start": 155, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "HIV/HCV co-infected (n = 112) and HCV mono-infected patients (n = 150), receiving therapy with pegylated IFN-alpha/ribavirin, were enrolled into this study.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 105, "end": 114}], "disease": [{"text": "mono", "start": 38, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 102, "end": 119}], "disease": [{"text": "Partial androgen insensitivity", "start": 0, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 102, "end": 119}, "tail": {"text": "Partial androgen insensitivity", "start": 0, "end": 30}}]}}, "schema": []}
{"input": "Additionally, high BAALC expression occurs in glioblastoma, melanoma, and childhood gastrointestinal stroma tumors, suggesting an oncogenic role for BAALC.", "output": {"entities": {"gene": [{"text": "BAALC", "start": 19, "end": 24}], "disease": [{"text": "melanoma", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Human lung epithelial cells express a functional cold-sensing TRPM8 variant.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 62, "end": 67}], "disease": [{"text": "cold", "start": 49, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "This study analysed the crosslink between the up regulation of double-stranded RNA-dependent-protein kinase (PKR) and the down regulation of mammalian target of rapamycin (mTOR) signalling pathways via p53, the protein Regulated in the Development and DNA damage response 1 (Redd1) and the tuberous sclerosis complex (TSC2) factors in two beta-amyloid peptide (Abeta) neurotoxicity models.", "output": {"entities": {"gene": [{"text": "PKR", "start": 109, "end": 112}], "disease": [{"text": "tuberous sclerosis complex", "start": 290, "end": 316}]}, "relations": {}}, "schema": []}
{"input": "Point mutation from G to A, and the GA genotype at loci-238 and 488 of the TNF-alpha gene were common in patients with advanced renal cell carcinoma.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 79, "end": 89}], "disease": [{"text": "advanced renal cell carcinoma", "start": 119, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Microarray profiling validates the IHC impression that MIB-1 and p53 IHC do not correlate with aggressive features in the most common type of giant adenoma.", "output": {"entities": {"gene": [{"text": "p53", "start": 65, "end": 68}], "disease": [{"text": "giant", "start": 142, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of lipocalin 2 is associated with high-risk human papillomavirus and grade of cervical lesion at baseline but does not predict outcomes of infections or incident cervical intraepithelial neoplasia.", "output": {"entities": {"gene": [{"text": "lipocalin 2", "start": 17, "end": 28}], "disease": [{"text": "infections", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 150, "end": 155}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 160, "end": 164}], "disease": [{"text": "SCA17", "start": 179, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NQO1", "start": 160, "end": 164}, "tail": {"text": "SCA17", "start": 179, "end": 184}}]}}, "schema": []}
{"input": "An initial report linked HSCR1 in MEN 2A solely to the C618R and C620R RET mutations.", "output": {"entities": {"gene": [{"text": "RET", "start": 71, "end": 74}], "disease": [{"text": "HSCR1", "start": 25, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 71, "end": 74}, "tail": {"text": "HSCR1", "start": 25, "end": 30}}]}}, "schema": []}
{"input": "We treated 32 patients with Ph1-negative chronic myeloproliferative disorders (CMD) with excessive thrombocytosis with Interferon alpha-2b (IFN alpha-2b): 26 had essential thrombocythaemia, ET (18 previously untreated, eight pretreated); one thrombocythaemia after treatment for Hodgkin' s disease (HD); two thrombocythaemia associated with non-Hodgkin' s lymphoma (NHL); three stage II idiopathic myelofibrosis (IM).", "output": {"entities": {"gene": [{"text": "Ph1", "start": 28, "end": 31}], "disease": [{"text": "essential thrombocythaemia", "start": 162, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Also, TIL recovered from the responding lung metastasis and cultured in the presence of IL2 gave rise to autologous tumor-reactive CD4 + T-cells, whereas the nonresponsive renal tumor yielded a mixture of T-and natural killer cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 131, "end": 134}], "disease": [{"text": "lung metastasis", "start": 40, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Variants in/near PNPLA3, NCAN, LYPLAL1, GCKR, and PPP1R3B were tested for association with hepatic steatosis using a regression framework in each cohort and meta-analyzed.", "output": {"entities": {"gene": [{"text": "GCKR", "start": 40, "end": 44}], "disease": [{"text": "regression", "start": 117, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "We used seven human glioma/glioblastoma cell lines: U251, KG-1C, NGM5, U87 MG, LN-Z308, NP-2 and T98G.", "output": {"entities": {"gene": [{"text": "U87", "start": 71, "end": 74}], "disease": [{"text": "glioma", "start": 20, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the neuroblastoma ND7-23 cell line is a suitable heterologous expression system for rNaV1. 8 Na + channels in that it allows stable expression of a channel with biophysical properties that closely resemble the native TTX-R currents in DRG neurones.", "output": {"entities": {"gene": [{"text": "DRG", "start": 252, "end": 255}], "disease": [{"text": "neuroblastoma", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Although preliminary, these data suggest that DOK5 and perhaps several other genes influence the magnitude of amygdala activation during face processing, particularly in those with BD.", "output": {"entities": {"gene": [{"text": "DOK5", "start": 46, "end": 50}], "disease": [{"text": "BD", "start": 181, "end": 183}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DOK5", "start": 46, "end": 50}, "tail": {"text": "BD", "start": 181, "end": 183}}]}}, "schema": []}
{"input": "The mechanisms by which CARD9 provides organ-specific protection against these fungal infections are now emerging.", "output": {"entities": {"gene": [{"text": "CARD9", "start": 24, "end": 29}], "disease": [{"text": "fungal infections", "start": 79, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Hemophilia A is a bleeding disorder caused by a quantitative or qualitative deficiency in the coagulation factor VIII.", "output": {"entities": {"gene": [{"text": "coagulation factor VIII", "start": 94, "end": 117}], "disease": [{"text": "Hemophilia A", "start": 0, "end": 12}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor VIII", "start": 94, "end": 117}, "tail": {"text": "Hemophilia A", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy.", "output": {"entities": {"gene": [{"text": "spino", "start": 80, "end": 85}], "disease": [{"text": "rapidly progressive", "start": 2, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of ICB-1 gene enhanced estrogen responsiveness of ovarian and breast cancer cells.", "output": {"entities": {"gene": [{"text": "ICB-1", "start": 13, "end": 18}], "disease": [{"text": "breast cancer", "start": 72, "end": 85}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ICB-1", "start": 13, "end": 18}, "tail": {"text": "breast cancer", "start": 72, "end": 85}}]}}, "schema": []}
{"input": "NADPH reductase quinone oxidoreductase 1 (NQO1) is needed to maintain a cellular pool of antioxidants, and this enzyme may contribute to tumorigenesis on the basis of studies in NQO1-deficient mice.", "output": {"entities": {"gene": [{"text": "quinone oxidoreductase", "start": 16, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Arsenic exposure accelerates atherogenesis in apolipoprotein E (-/-) mice.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 46, "end": 62}], "disease": [{"text": "atherogenesis", "start": 29, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "apolipoprotein E", "start": 46, "end": 62}, "tail": {"text": "atherogenesis", "start": 29, "end": 42}}]}}, "schema": []}
{"input": "Mutations in the ABCA4 gene are a common cause of autosomal recessive retinal degeneration.", "output": {"entities": {"gene": [{"text": "ABCA4 gene", "start": 17, "end": 27}], "disease": [{"text": "retinal degeneration", "start": 70, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The sister still alive showed renal impairment and deep venous thrombosis associated with lupus anticoagulant activity, decrease of circulating autoreactive CD5 (+) B lymphocytes and increased urinary levels of IgG and kappa and lambda light chains, suggesting a possible defect in regulation of B-lymphocyte function.", "output": {"entities": {"gene": [{"text": "CD5", "start": 157, "end": 160}], "disease": [{"text": "deep venous thrombosis", "start": 51, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the protective role of FXR against kidney damage induced by obesity in mice that had undergone uninephrectomy, a model resembling the clinical situation of kidney donation by obese individuals.", "output": {"entities": {"gene": [{"text": "FXR", "start": 45, "end": 48}], "disease": [{"text": "kidney damage", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "PTH hyper-secretion induces bone resorption, whereas intermittent injection of PTH increases bone mass.", "output": {"entities": {"gene": [{"text": "PTH", "start": 0, "end": 3}], "disease": [{"text": "bone mass", "start": 93, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We found normal osteoclastogenesis, expression of osteoclast markers, morphology, and localization of proteins involved in bone resorption, such as ClC-7 and cathepsin K. The ability to resorb bone was also normal.", "output": {"entities": {"gene": [{"text": "ClC-7", "start": 148, "end": 153}], "disease": [{"text": "bone resorption", "start": 123, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "A novel germline mutation, IVS4 + 1G > A, of the POU1F1 gene underlying combined pituitary hormone deficiency.", "output": {"entities": {"gene": [{"text": "POU1F1 gene", "start": 49, "end": 60}], "disease": [{"text": "pituitary hormone deficiency", "start": 81, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996.", "output": {"entities": {"gene": [{"text": "HFE", "start": 4, "end": 7}], "disease": [{"text": "HH", "start": 72, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HFE", "start": 4, "end": 7}, "tail": {"text": "HH", "start": 72, "end": 74}}]}}, "schema": []}
{"input": "In agreement with this, hypoxia and the hypoxia mimetic cobalt chloride induced the expression of G6PT, vascular endothelial growth factor (VEGF), and HIF-1alpha.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 140, "end": 144}], "disease": [{"text": "hypoxia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "r-OPN did not affect hematoma formation.", "output": {"entities": {"gene": [{"text": "OPN", "start": 2, "end": 5}], "disease": [{"text": "hematoma", "start": 21, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Treatment significantly improved the clonogenic potential of bone marrow erythroid, myeloid, megakaryocytic colony-forming cells and increased the proportion of CD34 (+) cells expressing the adhesion molecules CD11a, CD49d, CD54, CXCR4 and the SLAM antigen CD48.", "output": {"entities": {"gene": [{"text": "SLAM", "start": 244, "end": 248}], "disease": [{"text": "adhesion", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 56, "end": 74}], "disease": [{"text": "multiple endocrine neoplasia type 2B", "start": 78, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 56, "end": 74}, "tail": {"text": "multiple endocrine neoplasia type 2B", "start": 78, "end": 114}}]}}, "schema": []}
{"input": "These processes are herein confirmed to also occur in a human ovarian carcinoma cell line (OVCAR-3), by means of CD73 or NRK1 specific silencing.", "output": {"entities": {"gene": [{"text": "NRK1", "start": 121, "end": 125}], "disease": [{"text": "ovarian carcinoma", "start": 62, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The data also suggest that the AC3 genetic effects on BMI may have interaction with the factors related to ageing and environment.", "output": {"entities": {"gene": [{"text": "AC3", "start": 31, "end": 34}], "disease": [{"text": "ageing", "start": 107, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Expression analyses of the four family genes in esophageal and GCs suggested that GSDMC and GSDMD as well as GSDMA are tumor suppressors and that GSDMB, which was amplified and overexpressed in some GCs, could be an oncogene.", "output": {"entities": {"gene": [{"text": "GSDMA", "start": 109, "end": 114}], "disease": [{"text": "esophageal", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "All nine USS women had severely deficient ADAMTS13 activity.", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 42, "end": 50}], "disease": [{"text": "USS", "start": 9, "end": 12}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS13", "start": 42, "end": 50}, "tail": {"text": "USS", "start": 9, "end": 12}}]}}, "schema": []}
{"input": "In order to characterize the molecular defects underlying GALE deficiency, the GALE gene of 7 patients showing severe activity decreases was sequenced.", "output": {"entities": {"gene": [{"text": "GALE", "start": 58, "end": 62}], "disease": [{"text": "GALE deficiency", "start": 58, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALE", "start": 58, "end": 62}, "tail": {"text": "GALE deficiency", "start": 58, "end": 73}}]}}, "schema": []}
{"input": "There is mounting evidence that alpha 3 (IV) NC1 is also a target of autoimmunity in experimental autoimmune glomerulonephritis (EAG).", "output": {"entities": {"gene": [{"text": "EAG", "start": 129, "end": 132}], "disease": [{"text": "autoimmunity", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Our results reveal an additional functional mechanism for the pathogenesis of BDA2, which is duplication of a regulatory element that affects the expression of BMP2 in the developing limb.", "output": {"entities": {"gene": [{"text": "BMP2", "start": 160, "end": 164}], "disease": [{"text": "BDA2", "start": 78, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMP2", "start": 160, "end": 164}, "tail": {"text": "BDA2", "start": 78, "end": 82}}]}}, "schema": []}
{"input": "The role of the IKAP gene polymorphisms in atopic diseases in the middle European population.", "output": {"entities": {"gene": [{"text": "IKAP", "start": 16, "end": 20}], "disease": [{"text": "atopic", "start": 43, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "To assess the effects of energy balance interventions on tumor progression and EMT, mice were administered DIO, control, or CR diets for 8 weeks before orthotopic transplantation of M-Wnt or E-Wnt cells (for each cell line, n = 20 mice per diet) and continued on their diets for 6 weeks while tumor growth was monitored.", "output": {"entities": {"gene": [{"text": "EMT", "start": 79, "end": 82}], "disease": [{"text": "tumor progression", "start": 57, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We report a first case of congenital TTP on the African continent with a new, homozygous mutation in the metalloprotease domain of ADAMTS13.", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 131, "end": 139}], "disease": [{"text": "congenital TTP", "start": 26, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS13", "start": 131, "end": 139}, "tail": {"text": "congenital TTP", "start": 26, "end": 40}}]}}, "schema": []}
{"input": "Surprisingly, we find that SIVA loss inhibits non-small cell lung cancer (NSCLC) development, suggesting that SIVA facilitates tumorigenesis.", "output": {"entities": {"gene": [{"text": "SIVA", "start": 27, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "KLF15 was found to be up-regulated during myogenic differentiation induced by serum starvation or by overexpression of the myogenic differentiation factor MYOD.", "output": {"entities": {"gene": [{"text": "MYOD", "start": 155, "end": 159}], "disease": [{"text": "starvation", "start": 84, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Increased mRNA expression of manganese superoxide dismutase in psoriasis skin lesions and in cultured human keratinocytes exposed to IL-1 beta and TNF-alpha.", "output": {"entities": {"gene": [{"text": "IL-1 beta", "start": 133, "end": 142}], "disease": [{"text": "psoriasis", "start": 63, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1 beta", "start": 133, "end": 142}, "tail": {"text": "psoriasis", "start": 63, "end": 72}}]}}, "schema": []}
{"input": "PXS25 inhibits conversion of high glucose-induced release of active TGF-β (1), only in the absence of hypoxia.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 68, "end": 73}], "disease": [{"text": "hypoxia", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "So far, three loss-of-function mutations of PAX8 have been described, two in sporadic cases and one in familial thyroid hypoplasia.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 44, "end": 48}], "disease": [{"text": "sporadic", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Similar studies have identified other genes involved in vascular anomalies as important genes for vascular morphogenesis, including TIE2, VEGFR-3, RASA1, KRIT1, MGC4607, PDCD10, glomulin, FOXC2, NEMO, SOX18, ENG, ACVRLK1, MADH4, NDP, TIMP3, Notch3, COL3A1 and PTEN.", "output": {"entities": {"gene": [{"text": "glomulin", "start": 178, "end": 186}], "disease": [{"text": "vascular anomalies", "start": 56, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Loss of methylation at the ZAC1 differentially methylated region (DMR) is associated with transient neonatal diabetes mellitus, a developmental disorder involving growth retardation and diabetes in the first weeks of post-natal life.", "output": {"entities": {"gene": [{"text": "DMR", "start": 66, "end": 69}], "disease": [{"text": "transient neonatal diabetes mellitus", "start": 90, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Tissue MPO assay may be a useful laboratory tool to quantify intestinal mucosal inflammation in ponies.", "output": {"entities": {"gene": [{"text": "MPO", "start": 7, "end": 10}], "disease": [{"text": "mucosal inflammation", "start": 72, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In addition, PCNA, p53, Bax, and Bcl-X expression in both carcinomas were evaluated in relation to their clinicopathologic features and prognostic values using the Kaplan-Meier method and Cox regression models.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 13, "end": 17}], "disease": [{"text": "regression", "start": 192, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Impaired myocardial protein synthesis induced by acute alcohol intoxication is associated with changes in eIF4F.", "output": {"entities": {"gene": [{"text": "eIF4F", "start": 106, "end": 111}], "disease": [{"text": "acute alcohol intoxication", "start": 49, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "eIF4F", "start": 106, "end": 111}, "tail": {"text": "acute alcohol intoxication", "start": 49, "end": 75}}]}}, "schema": []}
{"input": "In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV.", "output": {"entities": {"gene": [{"text": "FZD4", "start": 49, "end": 53}], "disease": [{"text": "PHPV", "start": 112, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FZD4", "start": 49, "end": 53}, "tail": {"text": "PHPV", "start": 112, "end": 116}}]}}, "schema": []}
{"input": "3) PTTG overexpression causes aneuploidy.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 3, "end": 7}], "disease": [{"text": "aneuploidy", "start": 30, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "A male patient with profound mental retardation, athetosis, nystagmus, and severe congenital hypotonia (Duchenne muscular dystrophy [DMD]) was previously shown to carry a pericentric inversion of the X chromosome, 46, Y, inv (X) (p21. 2q22. 2).", "output": {"entities": {"gene": [{"text": "p21", "start": 230, "end": 233}], "disease": [{"text": "congenital hypotonia", "start": 82, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In the presence of recombinant tumour necrosis factor-alpha (TNF-alpha), anti-fas antibody, Leu3a anti-CD4 antibody, the percentage of apoptosis, evaluated in a 24-72 h short-term assay, was lower (P < 0. 05) in tat-positive Jurkat cells than in mock-transfected controls.", "output": {"entities": {"gene": [{"text": "CD4", "start": 103, "end": 106}], "disease": [{"text": "fas", "start": 78, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Results also indicate that ceruloplasmin interacted with chronic elevated manganese exposures to produce greater levels of brain oxidative stress.", "output": {"entities": {"gene": [{"text": "ceruloplasmin", "start": 27, "end": 40}], "disease": [{"text": "brain", "start": 123, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ceruloplasmin", "start": 27, "end": 40}, "tail": {"text": "brain", "start": 123, "end": 128}}]}}, "schema": []}
{"input": "We have performed OCTN2 mutation analysis in two unrelated German patients with primary carnitine deficiency and identified three molecular abnormalities.", "output": {"entities": {"gene": [{"text": "OCTN2", "start": 18, "end": 23}], "disease": [{"text": "carnitine deficiency", "start": 88, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCTN2", "start": 18, "end": 23}, "tail": {"text": "carnitine deficiency", "start": 88, "end": 108}}]}}, "schema": []}
{"input": "Overall, miRNA-dependent crosstalk between Ang-2 and VEGF plays a role in hypoxia-induced microvascular response.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 53, "end": 57}], "disease": [{"text": "hypoxia", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In contrast to our hypothesis, IL-4-independent pathways exacerbate methacholine-induced AHR and promote airway obstruction during the pathogenesis of mycoplasma respiratory disease.", "output": {"entities": {"gene": [{"text": "AHR", "start": 89, "end": 92}], "disease": [{"text": "airway obstruction", "start": 105, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: Utilizing both FISH and cytologic morphology, the assessment of Bcl-2/IgH translocation status could contribute to the better detection of minimal bone marrow infiltration and relapse receiving treatment by DLBCL cells.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 77, "end": 82}], "disease": [{"text": "translocation", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "NGAL expression is elevated in both colorectal adenoma-carcinoma sequence and cancer progression and enhances tumorigenesis in xenograft mouse models.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "There were significant increase in ERK2, c-fos and c-jun protein and mRNA levels in thalamus of patients with schizophrenia relative to controls.", "output": {"entities": {"gene": [{"text": "c-jun", "start": 51, "end": 56}], "disease": [{"text": "schizophrenia", "start": 110, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "c-jun", "start": 51, "end": 56}, "tail": {"text": "schizophrenia", "start": 110, "end": 123}}]}}, "schema": []}
{"input": "A total of 16 TC, 13 AC, 16 large cell neuroendocrine carcinomas and 15 small cell lung cancer were investigated for the mRNA expression of 11 transcription factors and related genes (MYB, MYBBP1A, OCT4, PAX6, PCDHB, RBP1, SDCBP, SOX2, SOX4, SOX11, TEAD2).", "output": {"entities": {"gene": [{"text": "MYBBP1A", "start": 189, "end": 196}], "disease": [{"text": "small cell lung cancer", "start": 72, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The alteration of neuraminidase and PPCA patterns in several of the Western blotting analyses performed on patient protein extracts indicated that the LMC is affected in at least some GM1-gangliosidosis and Morquio B patients.", "output": {"entities": {"gene": [{"text": "LMC", "start": 151, "end": 154}], "disease": [{"text": "gangliosidosis", "start": 188, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Digoxin downregulates NDRG1 and VEGF through the inhibition of HIF-1α under hypoxic conditions in human lung adenocarcinoma A549 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 32, "end": 36}], "disease": [{"text": "hypoxic", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "There are many bone anabolic effectors that control bone mass such as BMPs, PTH, and Wnt inhibitors.", "output": {"entities": {"gene": [{"text": "PTH", "start": 76, "end": 79}], "disease": [{"text": "bone mass", "start": 52, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Although many studies correlate S1P function to impaired cell growth, the relevance of C1P/Cer system and its involvement in neuroblastoma cells remain to be clarified.", "output": {"entities": {"gene": [{"text": "S1P", "start": 32, "end": 35}], "disease": [{"text": "neuroblastoma", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Immunogenicity without immunoselection: a mutant but functional antioxidant enzyme retained in a human metastatic melanoma and targeted by CD8 (+) T cells with a memory phenotype.", "output": {"entities": {"gene": [{"text": "CD8", "start": 139, "end": 142}], "disease": [{"text": "metastatic melanoma", "start": 103, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that cervical cancer cell lines exploit cell line-dependent, differential epigenetic mechanisms for DKK-1 silencing.", "output": {"entities": {"gene": [{"text": "DKK-1", "start": 119, "end": 124}], "disease": [{"text": "cervical cancer", "start": 24, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "PATIENTS/SUBJECTS/METHODS: The methylation status of p16 was evaluated in 22 HCC, 17 cirrhosis, 17 chronic hepatitis, nine primary biliary cirrhosis (PBC), eight autoimmune hepatitis, seven drug induced liver disease, six fatty liver, and three normal liver tissues using methylation specific polymerase chain reaction (MSP).", "output": {"entities": {"gene": [{"text": "HCC", "start": 77, "end": 80}], "disease": [{"text": "autoimmune hepatitis", "start": 162, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "In this paper, we studied the relation between DDX3 and the hypoxic responsive proteins in human breast cancer.", "output": {"entities": {"gene": [{"text": "DDX3", "start": 47, "end": 51}], "disease": [{"text": "hypoxic", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "PROP1 mutation causes combined pituitary hormone deficiency (CPHD).", "output": {"entities": {"gene": [{"text": "PROP1", "start": 0, "end": 5}], "disease": [{"text": "pituitary hormone deficiency", "start": 31, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our study showed that polymorphisms of CuZn-SOD, MnSOD, GSTM1 and GSTT1 in the placental tissue were not associated with preeclampsia.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 71, "end": 76}], "disease": [{"text": "preeclampsia", "start": 136, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "As the probe (pSPT/PGK), which is used for investigation of X-inactivation patterns, has been shown to be linked to the disease itself, it is possible to assign phase in mothers of sporadic cases who have been shown to be carriers, even when they have no surviving male offspring.", "output": {"entities": {"gene": [{"text": "PGK", "start": 19, "end": 22}], "disease": [{"text": "sporadic", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "TweakR is highly expressed in all subtypes of invasive ductal breast cancer, and enavatuzumab administration exhibited a dose-dependent inhibition of primary tumor growth and lung metastasis and enhanced the antitumor activity of several chemotherapy agents currently used to treat breast cancer.", "output": {"entities": {"gene": [{"text": "TweakR", "start": 0, "end": 6}], "disease": [{"text": "invasive ductal breast cancer", "start": 46, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Upon induction of experimental autoimmune encephalomyelitis, male but not female PPARalpha (-/-) mice developed more severe clinical signs that were restricted to the acute phase of disease.", "output": {"entities": {"gene": [{"text": "PPARalpha", "start": 81, "end": 90}], "disease": [{"text": "experimental autoimmune encephalomyelitis", "start": 18, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPARalpha", "start": 81, "end": 90}, "tail": {"text": "experimental autoimmune encephalomyelitis", "start": 18, "end": 59}}]}}, "schema": []}
{"input": "Further, using reverse regression we showed that the effects were present only in subjects with higher scores on the PAI-BOR.", "output": {"entities": {"gene": [{"text": "BOR", "start": 121, "end": 124}], "disease": [{"text": "regression", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Considering TN and NTN BRCA-related and sporadic tumors, a hierarchical clustering identified two clusters of miRNAs, which were not so different from CLU1 and CLU2, both in miRNA content and targeted pathways.", "output": {"entities": {"gene": [{"text": "NTN", "start": 19, "end": 22}], "disease": [{"text": "sporadic", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Liver expression of key genes related to de novo FA synthesis (LXRα, SREBP1c, ACC1, FAS), FA uptake and transport (PPARγ, CD36, FABP4), FA oxidation (PPARα), and inflammation (IL6, TNFα, CRP, PPARδ) were assessed by RT-qPCR in 127 MO women with normal liver histology (NL, n = 13), simple steatosis (SS, n = 47) and non-alcoholic steatohepatitis (NASH, n = 67).", "output": {"entities": {"gene": [{"text": "ACC1", "start": 78, "end": 82}], "disease": [{"text": "inflammation", "start": 162, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Since then, considerable literature on CNP and the cardiovascular system has been published; the aim of this review is to examine current literature relating to CNP and cardiovascular disease, in particular its role in heart failure (HF) and myocardial infarction (MI).", "output": {"entities": {"gene": [{"text": "CNP", "start": 39, "end": 42}], "disease": [{"text": "cardiovascular disease", "start": 169, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations in exon 5 of the LPL gene are the most common reported cause of LPL deficiency.", "output": {"entities": {"gene": [{"text": "LPL", "start": 36, "end": 39}], "disease": [{"text": "LPL deficiency", "start": 83, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 36, "end": 39}, "tail": {"text": "LPL deficiency", "start": 83, "end": 97}}]}}, "schema": []}
{"input": "Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.", "output": {"entities": {"gene": [{"text": "VHL", "start": 79, "end": 82}], "disease": [{"text": "von Hippel-Lindau disease", "start": 25, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VHL", "start": 79, "end": 82}, "tail": {"text": "von Hippel-Lindau disease", "start": 25, "end": 50}}]}}, "schema": []}
{"input": "When cholestasis was induced in pregnant rats, BVR alpha, SVCT1 and SVCT2 expression in maternal and fetal livers was stimulated, and this was further enhanced by UDCA treatment.", "output": {"entities": {"gene": [{"text": "SVCT1", "start": 58, "end": 63}], "disease": [{"text": "cholestasis", "start": 5, "end": 16}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SVCT1", "start": 58, "end": 63}, "tail": {"text": "cholestasis", "start": 5, "end": 16}}]}}, "schema": []}
{"input": "Recruitment of thyroid hormone receptor/retinoblastoma-interacting protein 230 by the aryl hydrocarbon receptor nuclear translocator is required for the transcriptional response to both dioxin and hypoxia.", "output": {"entities": {"gene": [{"text": "aryl hydrocarbon receptor nuclear translocator", "start": 86, "end": 132}], "disease": [{"text": "retinoblastoma", "start": 40, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms of the brain-derived neurotrophic factor (BDNF) have been investigated as candidate genes for post-stroke depression (PSD), and its receptor, neurotrophic tyrosine kinase receptor B (TrkB), has been associated with depression.", "output": {"entities": {"gene": [{"text": "PSD", "start": 132, "end": 135}], "disease": [{"text": "stroke", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.", "output": {"entities": {"gene": [{"text": "SSTR5", "start": 141, "end": 146}], "disease": [{"text": "major depression", "start": 51, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SSTR5", "start": 141, "end": 146}, "tail": {"text": "major depression", "start": 51, "end": 67}}]}}, "schema": []}
{"input": "Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.", "output": {"entities": {"gene": [{"text": "DRAM2", "start": 47, "end": 52}], "disease": [{"text": "retinal dystrophy with early macular involvement", "start": 59, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DRAM2", "start": 47, "end": 52}, "tail": {"text": "retinal dystrophy with early macular involvement", "start": 59, "end": 107}}]}}, "schema": []}
{"input": "We demonstrate that accumulation of dOTC in dopaminergic neurons causes neurodegeneration and motor behaviour impairment that illustrates a parkinsonian phenotype.", "output": {"entities": {"gene": [{"text": "dOTC", "start": 36, "end": 40}], "disease": [{"text": "neurodegeneration", "start": 72, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dOTC", "start": 36, "end": 40}, "tail": {"text": "neurodegeneration", "start": 72, "end": 89}}]}}, "schema": []}
{"input": "Collectively, our results extend the pattern of TMPRSS6 mutations associated with IRIDA and propose a model of causality for some of the novel missense mutation.", "output": {"entities": {"gene": [{"text": "TMPRSS6", "start": 48, "end": 55}], "disease": [{"text": "IRIDA", "start": 82, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMPRSS6", "start": 48, "end": 55}, "tail": {"text": "IRIDA", "start": 82, "end": 87}}]}}, "schema": []}
{"input": "Because of the phenotypic overlap of both syndromes, including hydrometrocolpos (HMC) and postaxial polydactyly (PAP) in the neonatal stage, the potential for diagnostic confusion exists.", "output": {"entities": {"gene": [{"text": "PAP", "start": 113, "end": 116}], "disease": [{"text": "hydrometrocolpos", "start": 63, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In addition, LTR-SHH skin displays the gene expression abnormalities previously described for human BCCs, including decreased BP180/BPAG2 and laminin 5 adhesion proteins and expression of basal epidermal keratins.", "output": {"entities": {"gene": [{"text": "BP180", "start": 126, "end": 131}], "disease": [{"text": "adhesion", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the contribution of EphB2 to inherited PC susceptibility in African Americans (AA) by screening the gene for germline polymorphisms.", "output": {"entities": {"gene": [{"text": "EphB2", "start": 33, "end": 38}], "disease": [{"text": "PC", "start": 52, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EphB2", "start": 33, "end": 38}, "tail": {"text": "PC", "start": 52, "end": 54}}]}}, "schema": []}
{"input": "A population-based cohort of 88 DS samples from the UK trials was used to validate survival estimates for IKZF1 and CRLF2 abnormalities.", "output": {"entities": {"gene": [{"text": "IKZF1", "start": 106, "end": 111}], "disease": [{"text": "abnormalities", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The present study supports the view that circulating lymphocytes give easy access to PAH gene transcripts whose nucleotide sequence is identical to that reported in liver and therefore represent a useful tool for molecular genetic studies in phenylketonuria.", "output": {"entities": {"gene": [{"text": "PAH", "start": 85, "end": 88}], "disease": [{"text": "phenylketonuria", "start": 242, "end": 257}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAH", "start": 85, "end": 88}, "tail": {"text": "phenylketonuria", "start": 242, "end": 257}}]}}, "schema": []}
{"input": "Prolactin-releasing peptide (PrRP) and its G-protein-coupled receptor, GPR10, have been implicated in the central control of appetite and blood pressure.", "output": {"entities": {"gene": [{"text": "GPR10", "start": 71, "end": 76}], "disease": [{"text": "blood pressure", "start": 138, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Photophobia, impaired movement perception, variable reduced VA that improved with the use of pinholes and ERG abnormalities were typical for the disease.", "output": {"entities": {"gene": [{"text": "ERG", "start": 106, "end": 109}], "disease": [{"text": "abnormalities", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "CDKN1C mutations are associated with growth disorders, including Beckwith-Wiedemann syndrome and IMAGe syndrome.", "output": {"entities": {"gene": [{"text": "CDKN1C", "start": 0, "end": 6}], "disease": [{"text": "growth disorders", "start": 37, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Seven of 74 amplifiable cases (9%) were positive for the translocation, which involves the bcl-2 oncogene and the immunoglobulin heavy chain gene.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 91, "end": 96}], "disease": [{"text": "translocation", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "TRX overexpression partially restored reduced bone mineral density and prevented the suppression of bone formation observed in diabetic WT.", "output": {"entities": {"gene": [{"text": "TRX", "start": 0, "end": 3}], "disease": [{"text": "bone mineral density", "start": 46, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "These two opposite effects apparently result from distinct mechanisms: either transcriptional activation of genes responsible for cell survival or cell apoptosis, or translocation into the cytoplasm where they target the mitochondria and cause cell apoptosis via Bcl-2 binding.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 263, "end": 268}], "disease": [{"text": "translocation", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "The human glioma cell lines, U87 and T98G, were evaluated for their ability to survive and form colonies in an acidic environment of pH (ext) 6. 0.", "output": {"entities": {"gene": [{"text": "U87", "start": 29, "end": 32}], "disease": [{"text": "glioma", "start": 10, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "A large fraction of this resides in the DCT, namely, (i) the transient receptor potential channel melastatin subtype 6 (TRPM6), a divalent cation-permeable channel located at the luminal membrane of the DCT, facilitates Mg (2 +) entry from the pro-urine into the cell; (ii) the epidermal growth factor is a novel hormone regulating active Mg (2 +) transport through TRPM6; (iii) the voltage-gated K (+) channel, Kv1. 1, establishes a favorable luminal membrane potential for TRPM6-mediated Mg (2 +) transport; (iv) the Na (+)/K (+)-ATPase gamma-subunit (gamma-Na (+)/K (+)-ATPase) was identified as mutated protein in a family with isolated dominant hypomagnesemia.", "output": {"entities": {"gene": [{"text": "DCT", "start": 40, "end": 43}], "disease": [{"text": "hypomagnesemia", "start": 650, "end": 664}]}, "relations": {}}, "schema": []}
{"input": "In murine gastric muscles, IGF1 promotes Kitl-dependent development of interstitial cells of Cajal (ICC), the non-neoplastic counterpart of GIST, suggesting cooperation between these pathways.", "output": {"entities": {"gene": [{"text": "Kitl", "start": 41, "end": 45}], "disease": [{"text": "non-neoplastic", "start": 110, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Although levels of secreted VEGF did not differ significantly between wild-type and mutant EGFR cell lines when grown in vitro under normoxic conditions, following exposure to 0. 1% hypoxia levels of VEGF produced by mutant cells increased 3. 5-6. 6 fold compared to 2 or less for full length EGFR cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 28, "end": 32}], "disease": [{"text": "hypoxia", "start": 182, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Significant correlations were found for familial covariance regarding the relation between TS subjects and their sisters (r = 0. 42, P < 0. 01) and HI and MOP (r =-0. 39, P < 0. 01) CONCLUSION: we conclude that the familial influences and risk factors such as recurrent otitis media in combination with hearing impairment serve primarily as important predictors of the individual neuromotor phenotype in Turner syndrome.", "output": {"entities": {"gene": [{"text": "MOP", "start": 155, "end": 158}], "disease": [{"text": "recurrent otitis media", "start": 260, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "We show that Phlpp1-loss causes neoplasia and, on partial Pten-loss, carcinoma in mouse prostate.", "output": {"entities": {"gene": [{"text": "Phlpp1", "start": 13, "end": 19}], "disease": [{"text": "carcinoma", "start": 69, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "A catalytically inactive mutant of DGAT1 (H426A) blocks the localization of NS5A, but not core, to LDs in a dominant-negative manner and impairs the release of infectious viral particles, underscoring the importance of DGAT1-mediated translocation of NS5A to LDs in viral particle production.", "output": {"entities": {"gene": [{"text": "DGAT1", "start": 35, "end": 40}], "disease": [{"text": "translocation", "start": 234, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "During this investigation we came across a number of ERG-rearranged ES lacking both EWSR1 and FUS abnormalities by FISH.", "output": {"entities": {"gene": [{"text": "ERG", "start": 53, "end": 56}], "disease": [{"text": "abnormalities", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Loss of Raf kinase inhibitor protein promotes cell proliferation and migration of human hepatoma cells.", "output": {"entities": {"gene": [{"text": "Raf kinase inhibitor protein", "start": 8, "end": 36}], "disease": [{"text": "hepatoma", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "As a consequence of anti-oxidative stress, activation of the ACE2/Ang-(1-7)/Mas axis led to improved hepatic insulin resistance through the Akt/PI3K/IRS-1/JNK insulin signaling pathway.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 144, "end": 148}], "disease": [{"text": "insulin resistance", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "S100P and S100Z were both up-regulated in cancer; whereas S100A7, S100A8 and S100A9 were strongly up-regulated only in DCIS.", "output": {"entities": {"gene": [{"text": "S100Z", "start": 10, "end": 15}], "disease": [{"text": "cancer", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Clinical and biochemical parameters of GC sensitivity were measured: weight, height, waist to hip ratio, glucose, insulin, total cholesterol, high-density lipoprotein, and C-reactive protein.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 172, "end": 190}], "disease": [{"text": "waist to hip ratio", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Subcutaneous and visceral mRNA expressions of tumor necrosis factor-alpha and CD68 were significantly increased in the ESRD versus control group.", "output": {"entities": {"gene": [{"text": "CD68", "start": 78, "end": 82}], "disease": [{"text": "ESRD", "start": 119, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD68", "start": 78, "end": 82}, "tail": {"text": "ESRD", "start": 119, "end": 123}}]}}, "schema": []}
{"input": "We studied GATA6, a TF gene that is frequently amplified or overexpressed in gastric, esophageal and pancreatic adenocarcinomas.", "output": {"entities": {"gene": [{"text": "TF gene", "start": 20, "end": 27}], "disease": [{"text": "esophageal", "start": 86, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Early growth response-1 (EGR1) is a multifunctional transcription factor that regulates diverse biological functions, including inflammation, apoptosis, differentiation, tumorigenesis, and even viral infection.", "output": {"entities": {"gene": [{"text": "EGR1", "start": 25, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Increased granulocyte-colony stimulating factor (G-CSF) and granulocyte-macrophage colony stimulating factor (GM-CSF) levels in BAL fluid from patients with sulfur mustard gas-induced pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "granulocyte-macrophage colony stimulating factor", "start": 60, "end": 108}], "disease": [{"text": "pulmonary fibrosis", "start": 184, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "granulocyte-macrophage colony stimulating factor", "start": 60, "end": 108}, "tail": {"text": "pulmonary fibrosis", "start": 184, "end": 202}}]}}, "schema": []}
{"input": "When reporters containing VEGF sequences, in the context of the native VEGF or heterologous simian virus 40 promoter, were cotransfected with expression vectors encoding HIF-1alpha and HIF-1beta (ARNT [aryl hydrocarbon receptor nuclear translocator]), reporter gene transcription was much greater in both hypoxic and nonhypoxic cells than in cells transfected with the reporter alone.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 26, "end": 30}], "disease": [{"text": "hypoxic", "start": 305, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 29, "end": 46}], "disease": [{"text": "androgen insensitivity syndrome", "start": 69, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 29, "end": 46}, "tail": {"text": "androgen insensitivity syndrome", "start": 69, "end": 100}}]}}, "schema": []}
{"input": "Kaplan-Meier survival analysis and Cox proportional hazard regression were used to analyze the association between the GATA2 rs2335052 genotypes and the clinical outcome of CRC.", "output": {"entities": {"gene": [{"text": "GATA2", "start": 119, "end": 124}], "disease": [{"text": "regression", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The translocation replaces the last nine codons of AML1 with the last 96 codons of EAP.", "output": {"entities": {"gene": [{"text": "AML1", "start": 51, "end": 55}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "After ischemia, expression was increased primarily in the dentate gyrus and CA3 regions of hippocampus.", "output": {"entities": {"gene": [{"text": "CA3", "start": 76, "end": 79}], "disease": [{"text": "ischemia", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "The sibpair analysis revealed a positive linkage between SLC6A4 * C and the 2 anxiety-related subdimensions of Harm Avoidance: HA1 (Anticipatory Worry) and HA2 (Fear of Uncertainty) (P =. 003).", "output": {"entities": {"gene": [{"text": "HA1", "start": 127, "end": 130}], "disease": [{"text": "anxiety", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.", "output": {"entities": {"gene": [{"text": "IKBKG", "start": 30, "end": 35}], "disease": [{"text": "progressive macrocephaly", "start": 55, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "However, hypoxia-induced revascularization and development of deep intraretinal vessels at P17 were reduced in TNFR2-KO but increased in TNFR2-TG mice without significant increase in preretinal neovascularization (NV).", "output": {"entities": {"gene": [{"text": "P17", "start": 91, "end": 94}], "disease": [{"text": "neovascularization", "start": 194, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Gene-gene interactions of FAS and FASL polymorphisms increased the risk of esophageal squamous-cell carcinoma in a multiplicative manner (OR for the presence of both FAS-1377AA and FASL-844CC genotypes = 4. 55, 95% CI = 2. 75 to 7. 48; P =. 001, test for homogeneity).", "output": {"entities": {"gene": [{"text": "FASL", "start": 34, "end": 38}], "disease": [{"text": "esophageal", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "HLA-DQA1 and HLA-DQB1 haplotypes were determined in 37 couples with a history of recurrent spontaneous abortion (RSAB), 40 of their abortuses, and 20 fertile control couples.", "output": {"entities": {"gene": [{"text": "HLA-DQA1", "start": 0, "end": 8}], "disease": [{"text": "recurrent spontaneous abortion", "start": 81, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We compared MTX-LPD to non-MTX-LPD and sporadic LPD by evaluating 48 cases of MTX-LPD, 28 non-MTX-LPD, and 150 sporadic LPD.", "output": {"entities": {"gene": [{"text": "MTX", "start": 12, "end": 15}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Two structurally similar VDRMs were tested in the 5/6 nephrectomized (NX) rats with elevated PTH, endothelial dysfunction and left ventricular hypertrophy.", "output": {"entities": {"gene": [{"text": "PTH", "start": 93, "end": 96}], "disease": [{"text": "ventricular hypertrophy", "start": 131, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that high expression of TLR4 and MyD88 predicts poorer overall survival in patients with EOC; most likely, this is due to their association with serous histology and features of high tumor burden and aggressiveness, including stage, grade, and ascites at surgery.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 39, "end": 43}], "disease": [{"text": "ascites", "start": 259, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "For in vitro experiments, we used a panel of human glioma cell lines (U87 MG, T98G, A172, LW5, and U251), a rat gliosarcoma cell line (9 L), and human lung (A549) and prostate carcinoma (P3) cell lines.", "output": {"entities": {"gene": [{"text": "U87", "start": 70, "end": 73}], "disease": [{"text": "glioma", "start": 51, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The MPI of pterygium fibrovascular tissue (13. 4) was significantly higher than the MPI of pterygium epithelium (3. 1; P = 0. 0001).", "output": {"entities": {"gene": [{"text": "MPI", "start": 4, "end": 7}], "disease": [{"text": "pterygium", "start": 11, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Signaling by the matrix proteoglycan decorin controls inflammation and cancer through PDCD4 and MicroRNA-21.", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 86, "end": 91}], "disease": [{"text": "inflammation", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that the increased detection and visualization of peptide-HLA complexes in HAM/TSP CD4 + CD25 + T cell subsets that are shown to stimulate and expand HTLV-I Tax-specific CD8 + T cells may play an important role in the pathogenesis of HTLV-I-associated neurological disease.", "output": {"entities": {"gene": [{"text": "CD4", "start": 106, "end": 109}], "disease": [{"text": "neurological disease", "start": 275, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "There was a highly significant decrease in hemoglobin over time in patients who did not receive EPO (P = 0. 008).", "output": {"entities": {"gene": [{"text": "EPO", "start": 96, "end": 99}], "disease": [{"text": "hemoglobin", "start": 43, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Gal1 has been shown to promote axonal regeneration through the activation of macrophages.", "output": {"entities": {"gene": [{"text": "Gal1", "start": 0, "end": 4}], "disease": [{"text": "axonal regeneration", "start": 31, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible \" hot spot \" on Ser72.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 31, "end": 36}], "disease": [{"text": "Dejerine-Sottas neuropathy", "start": 0, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 31, "end": 36}, "tail": {"text": "Dejerine-Sottas neuropathy", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "Expression of Smad4 and Smad7 in human thyroid follicular carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "Smad4", "start": 14, "end": 19}], "disease": [{"text": "thyroid follicular carcinoma", "start": 39, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive weight-adapted standard glucocorticoid replacement therapy.", "output": {"entities": {"gene": [{"text": "PAI", "start": 45, "end": 48}], "disease": [{"text": "weight", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Thus, DJ-1 may be a potential therapeutic target for peritoneal carcinomatosis of gastric carcinoma.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 6, "end": 10}], "disease": [{"text": "gastric carcinoma", "start": 82, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The rs738409 C > G patatin-like phospholipase domain-containing 3 (PNPLA3) single nucleotide polymorphism (SNP), encoding for the I148M protein variant, influences liver fat without affecting insulin resistance and body composition.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 67, "end": 73}], "disease": [{"text": "insulin resistance", "start": 192, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "CHRNA2", "start": 104, "end": 110}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNA2", "start": 104, "end": 110}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Specifically, in HS and K, diffuse PAR-1 and PAR-2 positivity was found in dermal cellular areas composed of myofibroblasts, while no or minor staining was observed in the scattered fibroblasts embedded in abundant extracellular matrix in the context of the more collagenous nodules, irrespective of the type of scar.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 35, "end": 40}], "disease": [{"text": "scar", "start": 312, "end": 316}]}, "relations": {}}, "schema": []}
{"input": "In kidneys of mice with bovine serum albumin overload proteinuria, fractalkine mRNA levels were 2. 3-fold greater than those of controls.", "output": {"entities": {"gene": [{"text": "fractalkine", "start": 67, "end": 78}], "disease": [{"text": "proteinuria", "start": 54, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Yet, silencing of endogenous TRPM8 mRNA by either antisense or siRNA strategies suppresses both I (cold/menthol) and TRPM8 protein in LNCaP cells.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 29, "end": 34}], "disease": [{"text": "cold", "start": 99, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Approximately half of the mevalonic aciduria cDNA clones encoding mevalonate kinase contained a single base substitution (A to C) in the coding region at nucleotide 902 that changed an asparagine residue to a threonine residue.", "output": {"entities": {"gene": [{"text": "mevalonate kinase", "start": 66, "end": 83}], "disease": [{"text": "mevalonic aciduria", "start": 26, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "mevalonate kinase", "start": 66, "end": 83}, "tail": {"text": "mevalonic aciduria", "start": 26, "end": 44}}]}}, "schema": []}
{"input": "HCT-8 colon cancer cells secreted heat shock protein 90alpha (HSP90alpha) and had increased invasiveness upon serum starvation.", "output": {"entities": {"gene": [{"text": "HSP90alpha", "start": 62, "end": 72}], "disease": [{"text": "starvation", "start": 116, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "A common haplotype of the nicotine acetylcholine receptor alpha 4 subunit gene is associated with vulnerability to nicotine addiction in men.", "output": {"entities": {"gene": [{"text": "alpha 4", "start": 58, "end": 65}], "disease": [{"text": "nicotine addiction", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have suggested that PAR-2 activity correlates with inflammatory processes and cell proliferation and that PAR-2 activation in non-neoplastic cells induces expression of cyclooxygenase-2 (COX-2).", "output": {"entities": {"gene": [{"text": "PAR", "start": 35, "end": 38}], "disease": [{"text": "non-neoplastic", "start": 141, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Taken together, significant numbers of gastric, esophageal, and pancreatic carcinomas are CD97 +, whereas its homolog, EMR2, does not have any role in such tumors.", "output": {"entities": {"gene": [{"text": "CD97", "start": 90, "end": 94}], "disease": [{"text": "esophageal", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The insulin sensitivity indexes: homeostasis model assessment of insulin resistance, whole body insulin sensitivity index, hepatic insulin sensitivity and early secretory response to an oral glucose load (HOMA-IR, ISI-COMP, ISI-HOMA and DELTA) were calculated.", "output": {"entities": {"gene": [{"text": "COMP", "start": 218, "end": 222}], "disease": [{"text": "insulin resistance", "start": 65, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.", "output": {"entities": {"gene": [{"text": "MTTP", "start": 45, "end": 49}], "disease": [{"text": "abetalipoproteinemia", "start": 88, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTTP", "start": 45, "end": 49}, "tail": {"text": "abetalipoproteinemia", "start": 88, "end": 108}}]}}, "schema": []}
{"input": "We examined the genetic association of neuropeptide Y receptor Y5 (NPY5R) single nucleotide polymorphisms (SNPs) with measures of the insulin resistance (metabolic) syndrome.", "output": {"entities": {"gene": [{"text": "NPY5R", "start": 67, "end": 72}], "disease": [{"text": "insulin resistance", "start": 134, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "A mutation in the androgen receptor (AR) gene, namely AR R726L, was described in 2% of Finnish men with sporadic or familial prostate cancer and was associated with an approximately sixfold increased risk of prostate cancer.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 18, "end": 35}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that CHD7 would be involved in the pathogenesis of IHH and KS (IHH/KS) without the CHARGE phenotype and that IHH/KS represents a milder allelic variant of CHARGE syndrome.", "output": {"entities": {"gene": [{"text": "CHD7", "start": 21, "end": 25}], "disease": [{"text": "KS", "start": 75, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHD7", "start": 21, "end": 25}, "tail": {"text": "KS", "start": 75, "end": 77}}]}}, "schema": []}
{"input": "This resulted from a high glucose-induced decrease in transactivation by the transcription factor hypoxia-inducible factor-1alpha (HIF-1alpha), which mediates hypoxia-stimulated VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 178, "end": 182}], "disease": [{"text": "hypoxia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome.", "output": {"entities": {"gene": [{"text": "NAG", "start": 82, "end": 85}], "disease": [{"text": "MPS-IIIB", "start": 181, "end": 189}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NAG", "start": 82, "end": 85}, "tail": {"text": "MPS-IIIB", "start": 181, "end": 189}}]}}, "schema": []}
{"input": "Gene Ontology analysis indicated a significant alteration of oxygen transport (increased hemoglobin gene expression) and lipid metabolism [including monoglyceride lipase and low density lipoprotein receptor-related protein 5 (LRP5) gene].", "output": {"entities": {"gene": [{"text": "LRP5", "start": 226, "end": 230}], "disease": [{"text": "hemoglobin", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Consistent with a role for HIFs in liver fibrosis in cholestatic liver disease, nuclear HIF-1 & #945; protein was present in macrophages, hepatocytes, and fibroblasts in the livers from patients with primary biliary cirrhosis and primary sclerosing cholangitis.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 88, "end": 93}], "disease": [{"text": "sclerosing cholangitis", "start": 238, "end": 260}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIF-1", "start": 88, "end": 93}, "tail": {"text": "sclerosing cholangitis", "start": 238, "end": 260}}]}}, "schema": []}
{"input": "Expression assays performed with patient' s fibroblasts and motor neurons derived from SPOAN patients showed KLC2 overexpression.", "output": {"entities": {"gene": [{"text": "KLC2", "start": 109, "end": 113}], "disease": [{"text": "SPOAN", "start": 87, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KLC2", "start": 109, "end": 113}, "tail": {"text": "SPOAN", "start": 87, "end": 92}}]}}, "schema": []}
{"input": "Despite this marked difference in gene regulations, Pin1 siRNA and Juglone exert a strong inhibitory effect on both the LNCaP and the DU145 cell line, suppressing in vitro cell proliferation as well as tumor enlargement when transplanted into mice.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 52, "end": 56}], "disease": [{"text": "enlargement", "start": 208, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "SET7/9 bound and mono-methylated H3K4 at the region of the approximately 4-6 kb upstream from the SREK1IP1 transcriptional start site and the promoters of PGC and CDC28B.", "output": {"entities": {"gene": [{"text": "SREK1IP1", "start": 98, "end": 106}], "disease": [{"text": "mono", "start": 17, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The expressions of stromal-cell-derived factor 1 (SDF-1), chemokine motif CXC receptor 4 (CXCR-4), vascular endothelial growth factor (VEGF), and intercellular adhesion molecule 1 (ICAM-1) in peri-infarction region and nonischemic region at different time points were determined by the Western blot analysis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 135, "end": 139}], "disease": [{"text": "infarction", "start": 197, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "There was increased expression of adhesion receptors (CD11c, CD29, CD36, CD44, CD49e, CD54), receptors involved in signal transduction and/or inflammation (CD13, CD45, CD53), and other markers (CD9, CD52, CD71, CD98, HLA Class I) on macrophages from ILD patients compared to the non-ILD group.", "output": {"entities": {"gene": [{"text": "CD53", "start": 168, "end": 172}], "disease": [{"text": "inflammation", "start": 142, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We describe a 3-year-old girl with early-onset Brown-Vialetto-Van Laere syndrome and a novel mutation in the C20orf54 gene (c. 989G & gt; T).", "output": {"entities": {"gene": [{"text": "C20orf54", "start": 109, "end": 117}], "disease": [{"text": "Brown-Vialetto-Van Laere syndrome", "start": 47, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C20orf54", "start": 109, "end": 117}, "tail": {"text": "Brown-Vialetto-Van Laere syndrome", "start": 47, "end": 80}}]}}, "schema": []}
{"input": "We hypothesize that the t (17; 22) (q22; q13) translocation that results in dermal overexpression of PDGFB and favors the development of fibrotic tumors might arise because of the known DNA repair defect in patients with ADA-SCID.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 101, "end": 106}], "disease": [{"text": "translocation", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The underlying gene in most IMO patients is TCIRG1.", "output": {"entities": {"gene": [{"text": "TCIRG1", "start": 44, "end": 50}], "disease": [{"text": "IMO", "start": 28, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCIRG1", "start": 44, "end": 50}, "tail": {"text": "IMO", "start": 28, "end": 31}}]}}, "schema": []}
{"input": "Congenital disorder of Glycosylation type Ia is an autosomal recessive disorder, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N-glycosylation and phosphomannomutase (PMM) deficiency related to mutations in the PMM2 gene (mRNA U85773. 1, gene ID 5373).", "output": {"entities": {"gene": [{"text": "PMM2", "start": 268, "end": 272}], "disease": [{"text": "Congenital disorder of Glycosylation type Ia", "start": 0, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMM2", "start": 268, "end": 272}, "tail": {"text": "Congenital disorder of Glycosylation type Ia", "start": 0, "end": 44}}]}}, "schema": []}
{"input": "The variable effects observed with the different L1CAM mutants suggest that this function contributes to the marked heterogeneity of symptoms and severity observed in the patients affected by the L1 syndrome.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 49, "end": 54}], "disease": [{"text": "L1 syndrome", "start": 196, "end": 207}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L1CAM", "start": 49, "end": 54}, "tail": {"text": "L1 syndrome", "start": 196, "end": 207}}]}}, "schema": []}
{"input": "Patients with a PROP1 inactivating mutation present combined pituitary hormone deficiency (CPHD) and pituitary maldevelopment.", "output": {"entities": {"gene": [{"text": "PROP1", "start": 16, "end": 21}], "disease": [{"text": "pituitary hormone deficiency", "start": 61, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Expression of MUC1, MUC2, and MUC3 core tandem repeat proteins was examined in specimens of normal mucosa (n = 20), hyperplastic polyps (n = 10), adenomatous polyps (n = 89), and invasive cancer (n = 19).", "output": {"entities": {"gene": [{"text": "MUC3", "start": 30, "end": 34}], "disease": [{"text": "invasive cancer", "start": 179, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Together, our results demonstrate that there is a masked t (8; 21) translocation in AML that is not detectable by cytogenetic analysis but is able to transcribe an AML1/ETO fusion transcript similar to that transcribed in t (8; 21)-positive AML-M2 patients.", "output": {"entities": {"gene": [{"text": "AML1", "start": 164, "end": 168}], "disease": [{"text": "translocation", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Decrease of the LPL enzymatic activity leads to elevated triglycerides (TG) and reduced high-density lipoprotein (HDL-C levels), both risk factors for cardiovascular disease (CVD).", "output": {"entities": {"gene": [{"text": "LPL", "start": 16, "end": 19}], "disease": [{"text": "cardiovascular disease", "start": 151, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Although, the NRIF3/DD1/DIF-1 pathway does not mediate apoptosis of a wide variety of non-breast cancer cell lines, because of certain similarities and gene signatures between breast and prostate cancer we explored whether the NRIF3/DD1/DIF-1/FASTKD2 pathway mediates apoptosis of prostate cancer cells.", "output": {"entities": {"gene": [{"text": "DD1", "start": 20, "end": 23}], "disease": [{"text": "prostate cancer", "start": 187, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Since advanced prostate tumors display chemoresistance, we tested a hypothesis that CT increases apoptosis resistance of prostate cells against cytotoxic drugs.", "output": {"entities": {"gene": [{"text": "CT", "start": 84, "end": 86}], "disease": [{"text": "prostate tumors", "start": 15, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CT", "start": 84, "end": 86}, "tail": {"text": "prostate tumors", "start": 15, "end": 30}}]}}, "schema": []}
{"input": "At least, SCC antigen, G protein, glutathione S-transferase, manganese superoxide dismutase, annexins, voltage-dependent anion channel, cyclophilin A, stratifin and galectin 7 are candidates for targeted proteins.", "output": {"entities": {"gene": [{"text": "cyclophilin A", "start": 136, "end": 149}], "disease": [{"text": "SCC", "start": 10, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cyclophilin A", "start": 136, "end": 149}, "tail": {"text": "SCC", "start": 10, "end": 13}}]}}, "schema": []}
{"input": "A direct isothermal amplification method was developed for detection of the latent membrane protein 1 (LMP1) of EBV in the peripheral blood of 80 patients with leukemia (54 had lymphoid leukemia and 26 had myeloid leukemia) and of 20 hematologically healthy control subjects.", "output": {"entities": {"gene": [{"text": "LMP1", "start": 103, "end": 107}], "disease": [{"text": "myeloid leukemia", "start": 206, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "In chronic atopic dermatitis, lichen planus, mycosis fungoides, and pityriasis rubra pilaris, Cdsn immunoreactivity was confined to stratum corneum and upper stratum granulosum with no stratum spinosum immunoreactivity.", "output": {"entities": {"gene": [{"text": "Cdsn", "start": 94, "end": 98}], "disease": [{"text": "atopic dermatitis", "start": 11, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "A lower expression of HIP in tumors results in decreased cell adhesion, favoring metastasis.", "output": {"entities": {"gene": [{"text": "HIP", "start": 22, "end": 25}], "disease": [{"text": "metastasis", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In one patient of group 2 a hidden translocation t (7; 14) (q3? 1; q2? 2) could be revealed with SKY.", "output": {"entities": {"gene": [{"text": "SKY", "start": 97, "end": 100}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The microarray analysis demonstrated that NMS induces a robust change in the expression of subsets of genes (CCL2, NOS3, THP1, NTRK1, CCR2, BDRKRB1, IL-10, TNFRSF1B, TRPV4, CNR1 and OPRL1) involved in pain transmission and inflammation.", "output": {"entities": {"gene": [{"text": "TNFRSF1B", "start": 156, "end": 164}], "disease": [{"text": "inflammation", "start": 223, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Concordant with these contradictory effects on tumor progression, FoxA1 expression is slightly upregulated in localized prostate cancer wherein cell proliferation is the main feature, but is remarkably downregulated when the disease progresses to metastatic stage for which cell motility and EMT are essential.", "output": {"entities": {"gene": [{"text": "EMT", "start": 292, "end": 295}], "disease": [{"text": "tumor progression", "start": 47, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that TNF-alpha gene G-308A polymorphism is a risk factor for the development of membranous glomerulonephritis.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 29, "end": 39}], "disease": [{"text": "membranous glomerulonephritis", "start": 100, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The GSTP1-313 G polymorphism, and null alleles of GSTM1 and GSTT1, are strong predisposing risk factors for sporadic prostate cancer in North India.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 50, "end": 55}], "disease": [{"text": "sporadic", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, PTK2 and EIF3S3, which, respectively, encode focal adhesion kinase and the p40 subunit of the eukaryotic initiation factor 3, were probable targets within the amplification at 8q23-q24 and may be involved in progression of HCC.", "output": {"entities": {"gene": [{"text": "PTK2", "start": 15, "end": 19}], "disease": [{"text": "HCC", "start": 238, "end": 241}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTK2", "start": 15, "end": 19}, "tail": {"text": "HCC", "start": 238, "end": 241}}]}}, "schema": []}
{"input": "Methylation-specific PCR for 8 human cervical cancer cell lines and bisulfite sequencing for 4 cell lines exhibiting significant difference in methylation levels were used to determine CpG-island methylation status at the 5'-end region of DKK-1.", "output": {"entities": {"gene": [{"text": "DKK-1", "start": 239, "end": 244}], "disease": [{"text": "cervical cancer", "start": 37, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Multivariate regression analysis showed that the ACE genotype did not change the odds of having microalbuminuria versus normoalbuminuria, while the D allele independently increased the odds of having macroalbuminuria versus microalbuminuria approximately threefold (p < 0. 01).", "output": {"entities": {"gene": [{"text": "ACE", "start": 49, "end": 52}], "disease": [{"text": "microalbuminuria", "start": 96, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "FISH analysis of metaphase chromosomes from inv (16) patients has established the gene order as telomere-MYH11-MRP-ARA-centromere and demonstrated that both ARA and MRP are deleted in a subgroup of the inv (16) leukemias.", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "leukemias", "start": 211, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "We also observed interaction between body mass index and IGF1 19 CA repeat (p = 0. 06) and between weight gain and the-202 C > A IGFBP3 polymorphism (p = 0. 05) in NHW post-menopausal women not recently exposed to hormones.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 129, "end": 135}], "disease": [{"text": "body mass index", "start": 37, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Results showed increased expression of the nuclear short isoform of CRMP2B and decreased expression of full-length CRMP2B and ARPC5 in cortical neurons of rats with hypothyroidism.", "output": {"entities": {"gene": [{"text": "ARPC5", "start": 126, "end": 131}], "disease": [{"text": "hypothyroidism", "start": 165, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Cell lines and primary tumors were tested for expression of VEGF-A, under normoxic and hypoxic conditions, using quantitative PCR, ELISA, WST-1 viability, and in-cell Western experiments.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 60, "end": 66}], "disease": [{"text": "hypoxic", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: Under hypoxic conditions, the mRNA and protein levels of VEGF, and the mRNA level of VEGF receptor-1 (VEGFR-1) increased with an increase in hypoxia-inducible factor-1alpha (HIF-1alpha) protein, and considerable amounts of VEGF were secreted.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 66, "end": 70}], "disease": [{"text": "hypoxic", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Five single nucleotide polymorphisms (SNPs), located in two adjacent estimated linkage disequilibrium blocks in the first intron of & #946;-1, 3-glucuronyltransferase 2 (B3GAT2), were nominally associated with SCZ (. 004 & #8804; P (empirical) & #8804;. 05).", "output": {"entities": {"gene": [{"text": "B3GAT2", "start": 170, "end": 176}], "disease": [{"text": "SCZ", "start": 210, "end": 213}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "B3GAT2", "start": 170, "end": 176}, "tail": {"text": "SCZ", "start": 210, "end": 213}}]}}, "schema": []}
{"input": "There was significant association of HR and DBP with SNPs of the gene encoding beta2AR; Gly16 or Glu27 could aggravate orthostatic tachycardia by excessive venous pooling.", "output": {"entities": {"gene": [{"text": "DBP", "start": 44, "end": 47}], "disease": [{"text": "orthostatic tachycardia", "start": 119, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The UGT2B17 deletion polymorphism does not play a major role in prostate cancer susceptibility as previously indicated.", "output": {"entities": {"gene": [{"text": "UGT2B17", "start": 4, "end": 11}], "disease": [{"text": "prostate cancer susceptibility", "start": 64, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The proportion of ATP7B positive samples in gastric cardiac carcinomas (51. 0%, 25 of 49) was significantly higher than that in the corresponding adjacent non-neoplastic epithelium (22. 4%, 11 of 49) (P = 0. 003).", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 18, "end": 23}], "disease": [{"text": "non-neoplastic", "start": 155, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Haplotype analyses were performed using microsatellite markers flanking the PDS locus, and the PDS gene was submitted to direct sequence analysis.", "output": {"entities": {"gene": [{"text": "PDS", "start": 76, "end": 79}], "disease": [{"text": "PDS", "start": 95, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDS", "start": 76, "end": 79}, "tail": {"text": "PDS", "start": 95, "end": 98}}]}}, "schema": []}
{"input": "Given that high mobility group box 1 (HMGB1), a nuclear protein, once released to the extracellular space, promotes nociception, we asked if inactivation of HMGB1 prevents or reverses chemotherapy-induced painful neuropathy in rats and also examined possible involvement of Toll-like receptor 4 (TLR4) and the receptor for advanced glycation endproduct (RAGE), known as targets for HMGB1.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 354, "end": 358}], "disease": [{"text": "neuropathy", "start": 213, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "], ORC4, ORC6, CDT1, and CDC6), DNA damage response (ATR [ataxia-telangiectasia and Rad3-related]), mRNA splicing (U4atac), and centrosome function (CEP152, PCNT, and CPAP).", "output": {"entities": {"gene": [{"text": "CPAP", "start": 167, "end": 171}], "disease": [{"text": "telangiectasia", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann' s corneal dystrophy.", "output": {"entities": {"gene": [{"text": "K12", "start": 43, "end": 46}], "disease": [{"text": "Meesmann' s corneal dystrophy", "start": 59, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K12", "start": 43, "end": 46}, "tail": {"text": "Meesmann' s corneal dystrophy", "start": 59, "end": 88}}]}}, "schema": []}
{"input": "No correlation was found between IL-18 and age, BMI, waist-to-hip ratio (WHR), lipid profile, dehydroepiandrosterone-sulfate (DHEAS), sex hormone-binding globulin (SHBG), or fasting insulin levels.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 33, "end": 38}], "disease": [{"text": "waist-to-hip ratio", "start": 53, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Relative to controls, MDD is associated with a 1. 34-fold increase in BiP (P = 0. 004), 1. 35-fold increase in EDEM1 (P = 0. 001), 1. 68-fold increase in CHOP (P = 0. 002), and 1. 60-fold increase in XBP1 (P = 0. 004).", "output": {"entities": {"gene": [{"text": "EDEM1", "start": 111, "end": 116}], "disease": [{"text": "MDD", "start": 22, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EDEM1", "start": 111, "end": 116}, "tail": {"text": "MDD", "start": 22, "end": 25}}]}}, "schema": []}
{"input": "The positional and functional candidate genes SIX1, SIX4, SIX6, OTX2, and ARHJ were excluded as the cause of cataract in these families.", "output": {"entities": {"gene": [{"text": "SIX4", "start": 52, "end": 56}], "disease": [{"text": "cataract", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "This confirms that MHBD deficiency is caused by mutations in the HADH2 gene.", "output": {"entities": {"gene": [{"text": "HADH2", "start": 65, "end": 70}], "disease": [{"text": "MHBD deficiency", "start": 19, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HADH2", "start": 65, "end": 70}, "tail": {"text": "MHBD deficiency", "start": 19, "end": 34}}]}}, "schema": []}
{"input": "We studied microsatellite instability (MI) and bax gene abnormalities in colorectal carcinomas from 36 patients diagnosed as having hereditary nonpolyposis colorectal cancers (HNPCC) according to the clinical criteria (12 with confirmed HNPCC in group A and 24 at high risk of HNPCC in group B) and from 20 randomly selected patients with other colorectal cancers.", "output": {"entities": {"gene": [{"text": "bax gene", "start": 47, "end": 55}], "disease": [{"text": "abnormalities", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Anti-oxidant glutathione (GSH) and N-acetyl-L-cysteine (NAC) can abrogate PL-induced gastric cancer cell death and proliferation inhibition.", "output": {"entities": {"gene": [{"text": "NAC", "start": 56, "end": 59}], "disease": [{"text": "gastric cancer", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Analyzing further the molecular mechanism of this phenomenon, we report for the first time that phosphorylated αB-crystallin preferentially interacts with Bcl-2, an anti-apoptotic protein, and this interaction prevents the translocation of Bcl-2 to mitochondria.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 155, "end": 160}], "disease": [{"text": "translocation", "start": 223, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations.", "output": {"entities": {"gene": [{"text": "TPM3", "start": 81, "end": 85}], "disease": [{"text": "CFTD", "start": 63, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPM3", "start": 81, "end": 85}, "tail": {"text": "CFTD", "start": 63, "end": 67}}]}}, "schema": []}
{"input": "Among MMR genes, germline MSH6 mutations are often observed in HNPCC-like families with an increased frequency of endometrial cancer.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 26, "end": 30}], "disease": [{"text": "endometrial cancer", "start": 114, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSH6", "start": 26, "end": 30}, "tail": {"text": "endometrial cancer", "start": 114, "end": 132}}]}}, "schema": []}
{"input": "Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 73, "end": 78}], "disease": [{"text": "Dejerine-Sottas neuropathy", "start": 0, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 73, "end": 78}, "tail": {"text": "Dejerine-Sottas neuropathy", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "Group G had significantly higher body weight, adipose mass, fasting glucose (FG), serum RBP4, total cholesterol (TC), triglycerides (TG), and high-density lipoprotein cholesterol (HDL-C) than group C. In group M, pioglitazone decreased body weight, adipose mass, levels of serum RBP4, FG, TC, and TG, and it increased levels of HDL-C. Pioglitazone downregulated RBP4 expression in hepatic and adipose tissue and prevented decreases in PPAR-γmRNA levels induced by lithogenic diet.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 88, "end": 92}], "disease": [{"text": "body weight", "start": 33, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "PDCD2 functions in cancer cell proliferation and predicts relapsed leukemia.", "output": {"entities": {"gene": [{"text": "PDCD2", "start": 0, "end": 5}], "disease": [{"text": "leukemia", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In vivo, doxycycline-inducible suppression of SFRP3 reduced aRMS tumor growth and weight by more than three-fold, in addition to increasing myogenic differentiation and β-catenin signaling.", "output": {"entities": {"gene": [{"text": "SFRP3", "start": 46, "end": 51}], "disease": [{"text": "weight", "start": 82, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In this study, we apply a protective heat shock to the transgenic C. elegans and demonstrate: (1) a delay in paralysis, (2) increased expression of small heat shock protein HSP16. 2, and (3) significant reduction of Abeta oligomers in a heat shock time-dependent manner.", "output": {"entities": {"gene": [{"text": "Abeta", "start": 216, "end": 221}], "disease": [{"text": "paralysis", "start": 109, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Abeta", "start": 216, "end": 221}, "tail": {"text": "paralysis", "start": 109, "end": 118}}]}}, "schema": []}
{"input": "GNAS1 mutation is not a frequent molecular event in GEP-NETs or hyperplastic gastric polyps.", "output": {"entities": {"gene": [{"text": "GEP", "start": 52, "end": 55}], "disease": [{"text": "gastric polyps", "start": 77, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Our goal is to determine whether or not mutations in the sodium-glucose cotransporter gene (SGLT1) are responsible for GGM.", "output": {"entities": {"gene": [{"text": "SGLT1", "start": 92, "end": 97}], "disease": [{"text": "GGM", "start": 119, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGLT1", "start": 92, "end": 97}, "tail": {"text": "GGM", "start": 119, "end": 122}}]}}, "schema": []}
{"input": "Senescence and epithelial-mesenchymal transition (EMT) have opposing roles in tumor progression, in that, one is a barrier against tumorigenesis, whereas the other is required for invasive malignancies.", "output": {"entities": {"gene": [{"text": "EMT", "start": 50, "end": 53}], "disease": [{"text": "tumor progression", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "It is speculated that hypoxia-driven disruption of the angiogenic balance involving vascular endothelial growth factor (VEGF)/placenta-derived growth factor (PLGF) and soluble Fms-like tyrosine kinase-1 (sFLT-1, the soluble form of VEGF receptor 1) might contribute to some of the maternal symptoms of pre-eclampsia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 120, "end": 124}], "disease": [{"text": "hypoxia", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "To define the mechanism by which the inhibition of NHE1 decreases hypoxic pulmonary hypertension and vascular remodeling, we investigated the role of E2F1, a nuclear transcription factor, in silencing the NHE1 gene-induced inhibition of the proliferation, hypertrophy, and migration of human PASMCs.", "output": {"entities": {"gene": [{"text": "E2F1", "start": 150, "end": 154}], "disease": [{"text": "pulmonary hypertension", "start": 74, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We have investigated microsatellite instability (MSI) in colorectal, gastric, endometrial and ovarian cancer as a result of mismatch repair (MMR) deficiency.", "output": {"entities": {"gene": [{"text": "MMR", "start": 141, "end": 144}], "disease": [{"text": "microsatellite instability", "start": 21, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The KCTD12 gene has been associated with bipolar disorder, major depressive disorder and schizophrenia.", "output": {"entities": {"gene": [{"text": "KCTD12", "start": 4, "end": 10}], "disease": [{"text": "bipolar disorder", "start": 41, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCTD12", "start": 4, "end": 10}, "tail": {"text": "bipolar disorder", "start": 41, "end": 57}}]}}, "schema": []}
{"input": "The totality of the evidence currently implicates GPx1, GPx4, SEPS1, Sep15, SEPP1 and TXNRD1 in conditions such as cardiovascular disease, pre-eclampsia and cancer.", "output": {"entities": {"gene": [{"text": "Sep15", "start": 69, "end": 74}], "disease": [{"text": "pre-eclampsia", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the multifactor dimensionality reduction and classification and regression tree analyses identified MGMT F84L as the predominant risk factor for glioma and revealed strong interactions among ionizing radiation exposure, PARP1 A762V, MGMT F84L, and APEX1 E148D.", "output": {"entities": {"gene": [{"text": "PARP1", "start": 233, "end": 238}], "disease": [{"text": "regression", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The current study suggests that Birc5 and Hspa5 could be important survival factors for hepatoma carcinoma cells and that the simultaneous knockdown of Birc5 and Hspa5 is more effective in inducing apoptosis in HepG2 cells than the knockdown of Birc5 or Hspa5 alone.", "output": {"entities": {"gene": [{"text": "Hspa5", "start": 42, "end": 47}], "disease": [{"text": "carcinoma", "start": 97, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Neurofibromatosis type 2 (NF2; MIM #101000) is an autosomal dominant disorder characterized by the development of vestibular schwannomas (VSs); schwannomas of other cranial, spinal, and cutaneous nerves; cranial and spinal meningiomas or other central nervous system tumors (eg, ependymomas and astrocytomas) or both.", "output": {"entities": {"gene": [{"text": "MIM", "start": 31, "end": 34}], "disease": [{"text": "schwannomas", "start": 125, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In this review we describe potential mechanisms of the involvement of LEM proteins, particularly of LAP2α and Ankle1 in tumorigenesis and we provide evidence that LAP2α expression may be a valuable diagnostic and prognostic marker for tumor analyses.", "output": {"entities": {"gene": [{"text": "Ankle1", "start": 110, "end": 116}], "disease": [{"text": "tumorigenesis", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "GRP78 is a stress-inducible chaperone protein with antiapoptotic properties that is overexpressed in transformed cells and cells under glucose starvation, acidosis, and hypoxic conditions that persist in poorly vascularized tumors.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 0, "end": 5}], "disease": [{"text": "starvation", "start": 143, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Production of cytokines (IL-1α, IL-1β, IL-4, IL-5, IL-6, IL-10, IL-17, TNFα, INFγ, and VEGF) was studied after in vitro stimulation of isolated peripheral blood by mitogens (Pokeweed mitogen, Concanavalin A), dental plaque bacteria (Aggregatibacter actinomycetemcomitans, Tannerella forsythia, Porphyromonas gingivalis, and Prevotella intermedia), and Heat Shock Protein (HSP) 70 by the Luminex multiplex cytokine analysis system.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 51, "end": 55}], "disease": [{"text": "dental plaque", "start": 209, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Is mda-7/IL-24 a potential target and biomarker for enhancing drug sensitivity in human glioma U87 cell line?", "output": {"entities": {"gene": [{"text": "U87", "start": 95, "end": 98}], "disease": [{"text": "glioma", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Normal tissue sections show that dysferlin localizes to the sarcolemma while tissue sections from MM and LGMD patients show minimal staining which is indistinguishable between the two types.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 33, "end": 42}], "disease": [{"text": "MM", "start": 98, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dysferlin", "start": 33, "end": 42}, "tail": {"text": "MM", "start": 98, "end": 100}}]}}, "schema": []}
{"input": "In in vitro experiments, hypoxia induced the upregulation of VEGF-A expression and the cytoplasmic translocation of HuR protein in meningioma cells, and inhibition of the cytoplasmic translocation of HuR reduced the upregulation of VEGF-A expression in meningioma cells.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 61, "end": 67}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Clinical features of the MEN 2A syndrome include medullary thyroid carcinoma (MTC) and/or C-cell hyperplasia (CCH) in almost all affected individuals, pheochromocytoma (approximately 50%) and hyperparathyroidism (HPT) (15-30%).", "output": {"entities": {"gene": [{"text": "HPT", "start": 213, "end": 216}], "disease": [{"text": "pheochromocytoma", "start": 151, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "To determine whether aberrant SNCG expression and demethylation play a role in gastric carcinogenesis, we examined the expression and methylation status of SNCG in primary gastric cancers, gastric cancer cell lines, and non-neoplastic gastric mucosal tissues.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 30, "end": 34}], "disease": [{"text": "non-neoplastic", "start": 220, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "X-linked agammaglobulinemia (XLA) is a rare disorder in which recurrent infections occur due to low serum globulins and circulating B lymphocytes caused by a mutation in the Bruton tyrosine kinase (Btk) gene.", "output": {"entities": {"gene": [{"text": "Bruton tyrosine kinase", "start": 174, "end": 196}], "disease": [{"text": "recurrent infections", "start": 62, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "METHODS: To explore the role of SnoN and Ski in the development and progression of colorectal cancer we examined their protein expression profile by immunohistochemistry in a series of human colorectal adenomas, carcinomas and lymph node metastases.", "output": {"entities": {"gene": [{"text": "SnoN", "start": 32, "end": 36}], "disease": [{"text": "lymph node metastases", "start": 227, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "We developed a selective small-molecule inhibitor of MPS1, MPS1-IN-3, which caused mitotic aberrancies in glioblastoma cells and, in combination with vincristine, induced mitotic checkpoint override, increased aneuploidy, and augmented cell death.", "output": {"entities": {"gene": [{"text": "MPS1", "start": 53, "end": 57}], "disease": [{"text": "aneuploidy", "start": 210, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study is to analyse the ACE gene I/D polymorphisms in healthy young subjects and to evaluate its relationship to left ventricular mass and functions.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 39, "end": 47}], "disease": [{"text": "left ventricular mass", "start": 128, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "SFN treatment decreased oxidants, and induced Nrf2 expression, antioxidants, and myofibroblastic dedifferentiation in IPF fibroblasts.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 46, "end": 50}], "disease": [{"text": "dedifferentiation", "start": 97, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "In newly diagnosed APL patients, Gli2 expression was significantly positively correlated with Gli1 (R = 0. 57, p & lt; 0. 001) and Smo (R = 0. 56, p & lt; 0. 001) and the expression of Hh pathway components was significantly higher in the high WBC group (p & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "Gli2", "start": 33, "end": 37}], "disease": [{"text": "APL", "start": 19, "end": 22}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gli2", "start": 33, "end": 37}, "tail": {"text": "APL", "start": 19, "end": 22}}]}}, "schema": []}
{"input": "Consistent with the role of ERLIN2 in regulating cytosolic lipid content, down-regulation of ERLIN2 in breast cancer or hepatoma cells led to lower cell proliferation rates.", "output": {"entities": {"gene": [{"text": "ERLIN2", "start": 28, "end": 34}], "disease": [{"text": "hepatoma", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Genes showing increased expression in carcinomas by cDNA microarray analysis (and further validated by immunohistochemistry and western blot analysis) include cyclin D1, PDGF-A chain, retinol binding protein 1, prohibitin and the transcription factor STAT5A.", "output": {"entities": {"gene": [{"text": "prohibitin", "start": 211, "end": 221}], "disease": [{"text": "carcinomas", "start": 38, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prohibitin", "start": 211, "end": 221}, "tail": {"text": "carcinomas", "start": 38, "end": 48}}]}}, "schema": []}
{"input": "In mice mimicking human allergic bronchopulmonary aspergillosis, SP-A and SP-D suppressed IgE levels, eosinophilia, pulmonary cellular infiltration and cause a marked shift from a pathogenic Th2 to a protective Th1 cytokine profile.", "output": {"entities": {"gene": [{"text": "Th1", "start": 211, "end": 214}], "disease": [{"text": "eosinophilia, pulmonary", "start": 102, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The median age of the 109 participants was 31 years, the median CD4 count was 125/mm3, 66. 3% had an abnormal Pap smear, the HR-HPV prevalence was 78. 9% (Digene), the median HPV viral load was 181. 1 RLU (HC2 positive samples only) and 78. 4% had multiple genotypes.", "output": {"entities": {"gene": [{"text": "HC2", "start": 206, "end": 209}], "disease": [{"text": "viral load", "start": 179, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "We further show that cells in the ganglion and inner-nuclear layers of the retina constitutively express IRF-1 and IRF-8 and enhanced CFH expression in the retina during ocular inflammation correlated with significant increase in the expression of IRF-1, IRF-8 and IL-27 (IL-27p28 and Ebi3).", "output": {"entities": {"gene": [{"text": "IL-27", "start": 265, "end": 270}], "disease": [{"text": "ganglion", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our results suggest that loss of neurofibromin is not sufficient for astrocytoma formation in mice and that other genetic or environmental factors might influence NF1-associated glioma tumorigenesis.", "output": {"entities": {"gene": [{"text": "neurofibromin", "start": 47, "end": 60}], "disease": [{"text": "tumorigenesis", "start": 199, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "DNA mismatch repair (MMR) is essential in the surveillance of accurate transmission of genetic information, and defects in this pathway lead to microsatellite instability and hereditary nonpolyposis colorectal cancer (HNPCC).", "output": {"entities": {"gene": [{"text": "MMR", "start": 21, "end": 24}], "disease": [{"text": "microsatellite instability", "start": 144, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Although mutations in the rhodopsin, peripherin, and cGMP phosphodiesterase genes have been identified in some forms of RP, it remains to be determined whether these mutations lead to photoreceptor cell death through necrotic or apoptotic mechanisms.", "output": {"entities": {"gene": [{"text": "peripherin", "start": 37, "end": 47}], "disease": [{"text": "necrotic", "start": 217, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "It is unclear how CQ excites and modulates TRPA1 (+), TRPV1 (+), and TRPM8 (+) neurons and thus affects the sensations of pain, itch, and cold.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 54, "end": 59}], "disease": [{"text": "cold", "start": 138, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Cholelithiasis and choledocholithiasis after sequential cytarabine and asparaginase.", "output": {"entities": {"gene": [{"text": "asparaginase", "start": 71, "end": 83}], "disease": [{"text": "Cholelithiasis", "start": 0, "end": 14}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "asparaginase", "start": 71, "end": 83}, "tail": {"text": "Cholelithiasis", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "EGFR mutations frequently occur in east-Asian, female, non-smoking, adenocarcinoma patients, however they are occasionally detected in patients with non-adenocarcinomas or with a heavy smoking history.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The ORs of RUNX3 methylation were 16. 6 (95% CI = 6. 5-42. 4) for tumor tissues relative to tumor-adjacent tissues in patients with HCC, 67. 3 (95% CI = 13. 0-348. 5) for tumor tissues from patients with HCC relative to liver tissues from patients with non-neoplastic liver diseases, and 3. 26 (95% CI = 1. 54-6. 90) for tissues from patients with hepatitis C virus (HCV)-related HCC relative to liver tissues from patients with HCC unrelated to HCV.", "output": {"entities": {"gene": [{"text": "HCC", "start": 132, "end": 135}], "disease": [{"text": "non-neoplastic", "start": 253, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "A nonstatistically significant fall in FGF21 levels was seen after a 72-hour fast.", "output": {"entities": {"gene": [{"text": "FGF21", "start": 39, "end": 44}], "disease": [{"text": "fall", "start": 31, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we verified the immunocontent of astrocyte glutamate/aspartate transporter (GLAST) and glutamate transporter-1 (GLT-1) as well as activation of mitogen-activated protein kinases (MAPKs) in hypothyroid rats.", "output": {"entities": {"gene": [{"text": "GLAST", "start": 86, "end": 91}], "disease": [{"text": "hypothyroid", "start": 199, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Seven-day-old rats that were underwent left carotid ligation followed by 2h of hypoxic stress (8% O (2) at 37 degrees C) were received VEGF adenoviral vectors or buffer (PBS) injection 3 days after HI.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 135, "end": 139}], "disease": [{"text": "hypoxic", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "While pregnancy related complications always induce upregulation of Hsp70 and downregulation of Hsp90 in maternal whole peripheral blood, the increase of Hsp60 mRNA levels occurs entirely in patients with preeclampsia and/or fetal growth restriction.", "output": {"entities": {"gene": [{"text": "Hsp90", "start": 96, "end": 101}], "disease": [{"text": "preeclampsia", "start": 205, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "MBL insufficiency and MASP-2 deficiency are risk factors for recurrence of infections independently of allergic disease.", "output": {"entities": {"gene": [{"text": "MASP", "start": 22, "end": 26}], "disease": [{"text": "infections", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "To determine the role of p27 in tumorigenesis, we examined its mutational status in 74 non-Hodgkin' s lymphomas (NHLs) (52 of B-cell phenotype, 22 of T-cell phenotype), 5 lymphoma cell lines, and 42 adult T-cell leukemias/lymphomas (ATLs) using polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and Southern blot analyses.", "output": {"entities": {"gene": [{"text": "p27", "start": 25, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "EGFR mutations were detected in 70 cases of newly diagnosed non-smoking adenocarcinoma, and patients harboring EGFR mutations received EGFR-TKI treatment.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Screening of the 17p11. 2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).", "output": {"entities": {"gene": [{"text": "p12", "start": 27, "end": 30}], "disease": [{"text": "hereditary neuropathy with liability to pressure palsies", "start": 110, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The incidences of microsatellite instability (MSI) and underlying DNA mismatch repair (MMR) defects in pancreatic carcinogenesis have not been well established.", "output": {"entities": {"gene": [{"text": "MMR", "start": 87, "end": 90}], "disease": [{"text": "microsatellite instability", "start": 18, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Expression of RAGE and HMGB1 in thymic epithelial tumors, thymic hyperplasia and regular thymic morphology.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 23, "end": 28}], "disease": [{"text": "hyperplasia", "start": 65, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In this study, we showed the differential TRAIL responsiveness of human prostate adenocarcinoma PC3 and human colon carcinoma KM12 cells and their respective highly metastatic PC3-MM2 and KM12L4A sublines and investigated the mechanism underlying high susceptibility of human metastatic cancer cells to TRAIL.", "output": {"entities": {"gene": [{"text": "PC3", "start": 96, "end": 99}], "disease": [{"text": "prostate adenocarcinoma", "start": 72, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Seven single-nucleotide polymorphisms (SNP) of DICER1 (rs13078, rs1057035 and rs12323635) and DROSHA (rs10719, rs2291109, rs17409893 and rs642321) were determined by TaqMan probes and SNPstream in 667 eligible infertile men and 419 fertile controls.", "output": {"entities": {"gene": [{"text": "DROSHA", "start": 94, "end": 100}], "disease": [{"text": "infertile", "start": 210, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Carriage of FLG mutations was not associated with the risk of cervical cancer.", "output": {"entities": {"gene": [{"text": "FLG", "start": 12, "end": 15}], "disease": [{"text": "cervical cancer", "start": 62, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "To clarify aspects of immune mechanisms and proliferation of PNH cells, we investigated HLA-DRB1,-DQA1, and-DQB1 alleles by polymerase chain reaction (PCR)-based genotyping and expression of the Wilms' tumor gene, WT1, by real-time reverse transcriptase-PCR (RT-PCR) in 21 PNH and 21 aplastic anemia (AA) patients.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 88, "end": 96}], "disease": [{"text": "anemia", "start": 293, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these observations suggest that CNP and its specific receptor, NPR-B, can play a very important role in regulating cardiac hypertrophy and remodeling, indicating NPR-B as a new potential drug target for the treatment of cardiovascular disease.", "output": {"entities": {"gene": [{"text": "CNP", "start": 48, "end": 51}], "disease": [{"text": "cardiovascular disease", "start": 236, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation.", "output": {"entities": {"gene": [{"text": "WDR60", "start": 102, "end": 107}], "disease": [{"text": "Jeune syndrome", "start": 137, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WDR60", "start": 102, "end": 107}, "tail": {"text": "Jeune syndrome", "start": 137, "end": 151}}]}}, "schema": []}
{"input": "The translocation fuses the DNA binding domain of AML1 to nearly all of the ETO co-repressor.", "output": {"entities": {"gene": [{"text": "AML1", "start": 50, "end": 54}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of GPC5 and GPC6 in 19 patients with somatic overgrowth failed to reveal pathologic mutations in either of these genes, but identified several coding region polymorphisms.", "output": {"entities": {"gene": [{"text": "GPC5", "start": 23, "end": 27}], "disease": [{"text": "overgrowth", "start": 65, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In vivo I/R (20-minute ischemia, 1-week reperfusion) resulted in more severe systolic and diastolic dysfunction in TIMP4 (-/-) mice with enhanced inflammation, oxidative stress (1 day post-I/R), hypertrophy, and interstitial fibrosis (1 week).", "output": {"entities": {"gene": [{"text": "TIMP4", "start": 115, "end": 120}], "disease": [{"text": "hypertrophy", "start": 195, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 51, "end": 56}], "disease": [{"text": "Wilson Disease", "start": 65, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 51, "end": 56}, "tail": {"text": "Wilson Disease", "start": 65, "end": 79}}]}}, "schema": []}
{"input": "Regulation of bcl-2 gene expression was investigated in neoplastic lymphoid cell lines containing normal #18 chromosomes or a t (14; 18) translocation with regard to steady-state mRNA levels, RNA stability, transcription rates, and DNA methylation.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 14, "end": 24}], "disease": [{"text": "translocation", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Additive genetic, common and unique environmental (ACE) model-based heritability of body mass index (BMI) was 61%, while additive genetic and unique environmental (AE)-model-based heritability of waist circumference (WC) and waist-hip ratio (WHR) were 75% and 61%, respectively.", "output": {"entities": {"gene": [{"text": "ACE", "start": 51, "end": 54}], "disease": [{"text": "waist circumference", "start": 196, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "It seems, however, that mutations of the inactivation gate (ID3-4 loop) of the sodium channel tend to produce paramyotonia or pure, sometimes severe, myotonia and respond most favourably to the same medications (tocainide and mexiletine).", "output": {"entities": {"gene": [{"text": "ID3", "start": 60, "end": 63}], "disease": [{"text": "myotonia", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "For estrogen-dependent MCF-7/BUS breast cancer cells, overexpression of GRP78 inhibits estrogen starvation-induced BAX activation, mitochondrial permeability transition, and consequent apoptosis.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 72, "end": 77}], "disease": [{"text": "starvation", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Also, expression of IFN-γ of non-necrotizing granulomas was significantly higher than that of necrotizing granulomas in the hyperplasia group, and expression of TGF-β in necrotizing granulomas was significantly higher than that of non-necrotizing granulomas in the necrosis group.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 161, "end": 166}], "disease": [{"text": "necrosis", "start": 265, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Also a marked down-regulation of one gene CSF2 associated with inflammation and two genes (CYP7A1 and CYP2E1) associated with oxidative metabolic stress were observed in the usnic acid-treated cells compared with the control.", "output": {"entities": {"gene": [{"text": "CYP7A1", "start": 91, "end": 97}], "disease": [{"text": "inflammation", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "SAG was expressed at a low level in brain tissue and was inducible after middle cerebral artery occlusion with peak expression at 6 to 12 hours.", "output": {"entities": {"gene": [{"text": "SAG", "start": 0, "end": 3}], "disease": [{"text": "middle cerebral artery occlusion", "start": 73, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Effect of COMT Val158Met polymorphism on personality traits and educational attainment in a longitudinal population representative study.", "output": {"entities": {"gene": [{"text": "COMT", "start": 10, "end": 14}], "disease": [{"text": "personality traits", "start": 41, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Amelioration of dextran sulfate sodium-induced colitis by anti-macrophage migration inhibitory factor antibody in mice.", "output": {"entities": {"gene": [{"text": "macrophage migration inhibitory factor", "start": 63, "end": 101}], "disease": [{"text": "colitis", "start": 47, "end": 54}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "macrophage migration inhibitory factor", "start": 63, "end": 101}, "tail": {"text": "colitis", "start": 47, "end": 54}}]}}, "schema": []}
{"input": "Heterozygous PU. 1 mutations were reported in some patients with acute myeloid leukemia (AML), but not in AML with translocation t (8; 21), which gives rise to the fusion gene AML1-ETO.", "output": {"entities": {"gene": [{"text": "AML1", "start": 176, "end": 180}], "disease": [{"text": "translocation", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We found polyp-specific dysplastic changes in the form of coexpression of Sox2 and Olig2.", "output": {"entities": {"gene": [{"text": "Olig2", "start": 83, "end": 88}], "disease": [{"text": "polyp", "start": 9, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "We have screened 17 probands with the HME phenotype, for alterations in all translated exons and flanking intronic sequences, in the EXT1 and EXT2 genes, by conformation-sensitive gel electrophoresis.", "output": {"entities": {"gene": [{"text": "EXT1", "start": 133, "end": 137}], "disease": [{"text": "HME", "start": 38, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EXT1", "start": 133, "end": 137}, "tail": {"text": "HME", "start": 38, "end": 41}}]}}, "schema": []}
{"input": "Unlike a report of a Japanese patient with aceruloplasminemia, who had midperipheral retinal pigment epithelium (RPE) cell atrophy and yellowish discoloration of the fundus, our Caucasian patient had a maculopathy.", "output": {"entities": {"gene": [{"text": "RPE", "start": 113, "end": 116}], "disease": [{"text": "aceruloplasminemia", "start": 43, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We studied the associations between 18 single nucleotide polymorphisms (SNPs) in CHRNA5-CHRNA3-CHRNB4 and systolic blood pressure (SBP), diastolic blood pressure (DBP), and body mass index (BMI) in 5402 young adults from the Northern Finland Birth Cohort 1966.", "output": {"entities": {"gene": [{"text": "CHRNA3", "start": 88, "end": 94}], "disease": [{"text": "diastolic blood pressure", "start": 137, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "The activation of mucosal TLR4 is also influenced by the properties of the infecting strain, and pathogens use their virulence factors to trigger' pathogen-specific' TLR4 responses in the urinary tract but do not respond to the asymptomatic carrier strains in patients with asymptomatic bacteriuria (ABU).", "output": {"entities": {"gene": [{"text": "TLR4", "start": 26, "end": 30}], "disease": [{"text": "asymptomatic", "start": 228, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "We postulate that the Rac2-MRC-cIII pathway triggers ROS-mediated genomic instability in LSCs and primitive LPCs, which could be targeted to prevent the relapse and malignant progression of CML.", "output": {"entities": {"gene": [{"text": "MRC", "start": 27, "end": 30}], "disease": [{"text": "genomic instability", "start": 66, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that the SF188/V + glioma model exhibits some MRI and histopathology features that closely resemble human glioblastoma.", "output": {"entities": {"gene": [{"text": "MRI", "start": 67, "end": 70}], "disease": [{"text": "glioblastoma", "start": 127, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Our study demonstrated the functions of microRNA-7 (miR-7) in cervical cancer.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 52, "end": 57}], "disease": [{"text": "cervical cancer", "start": 62, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In atopic patients, the levels of both IL-8 and MIP-1 alpha mRNAs but not of RANTES mRNA decreased with improvements in symptom scores after therapy.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 39, "end": 43}], "disease": [{"text": "atopic", "start": 3, "end": 9}]}, "relations": {}}, "schema": []}
{"input": "Confocal microscopy analysis revealed that menin regulates AKT1 in part by reducing the translocation of AKT1 from the cytoplasm to the plasma membrane during growth factor stimulation.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 59, "end": 63}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Recent genetic studies link this phenotype to expression of abnormal genes at future joint sites: too little expression of NOG, a growth antagonist, or overexpression of GDF5, a growth agonist, results in cartilage overgrowth and bony fusion.", "output": {"entities": {"gene": [{"text": "NOG", "start": 123, "end": 126}], "disease": [{"text": "overgrowth", "start": 215, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, NSC-13502 inhibited hypoxic induction of luciferase in U251-HRE cells and VEGF mRNA expression in U251 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 87, "end": 91}], "disease": [{"text": "hypoxic", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Extracellular RNA (eRNA) released from injured cells promotes tissue permeability, thrombosis, and inflammation in vitro and in vivo, and RNase1 pretreatment can reduce all these effects.", "output": {"entities": {"gene": [{"text": "RNase1", "start": 138, "end": 144}], "disease": [{"text": "inflammation", "start": 99, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "It was shown that loss of NFIA results in hydrocephalus and agenesis of the corpus callosum and that NFIB deficiency leads to neurological defects and to severe lung hypoplasia, whereas Nfic knockout mice exhibit specific tooth defects.", "output": {"entities": {"gene": [{"text": "Nfic", "start": 186, "end": 190}], "disease": [{"text": "lung hypoplasia", "start": 161, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "If we could transfer a large number of ODNs into the cancer cell nucleus, activated HIF-1 might bind to the ODNs, resulting in inhibition of hypoxia-induced VEGF synthesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 157, "end": 161}], "disease": [{"text": "hypoxia", "start": 141, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Three different nucleotide changes were identified in the coding region of CHST6 in sixteen Icelandic patients with MCD type I.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 75, "end": 80}], "disease": [{"text": "MCD", "start": 116, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 75, "end": 80}, "tail": {"text": "MCD", "start": 116, "end": 119}}]}}, "schema": []}
{"input": "We conclude that BRCA1 ovarian tumors present a different type, number, and length of RCNA; a huge amount of the genome is lost, resulting in important genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 17, "end": 22}], "disease": [{"text": "genomic instability", "start": 152, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "A total of 183 women and 153 men (mean body mass index (BMI), 26. 1 +/-4. 8 kg/m (2)) were genotyped using the PCR-RFLP procedure for the LEP A19G, LEPR Gln223Arg, LEPR PRO1019pro and NPY Leu7Pro polymorphisms.", "output": {"entities": {"gene": [{"text": "NPY", "start": 184, "end": 187}], "disease": [{"text": "body mass index", "start": 39, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.", "output": {"entities": {"gene": [{"text": "Dysferlin", "start": 0, "end": 9}], "disease": [{"text": "Miyoshi myopathy", "start": 32, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Dysferlin", "start": 0, "end": 9}, "tail": {"text": "Miyoshi myopathy", "start": 32, "end": 48}}]}}, "schema": []}
{"input": "It also reduces the LPS-induced infiltration of neutrophils in lung tissues, pulmonary edema and expression of MLCK and CD11b protein and MLCK mRNA in lung tissues, demonstrating that inhibition of activation of MLCK, leading to an abatement of phosphorylation of myosin light chain or MLCK, resulting in stabilization of vascular barrier function.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 120, "end": 125}], "disease": [{"text": "pulmonary edema", "start": 77, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "These studies suggest the 3q translocation in UCSD/AML1 cells is associated with evi-1 transcription and expression of a potential transforming gene.", "output": {"entities": {"gene": [{"text": "AML1", "start": 51, "end": 55}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates that human UPF1 exerts protective effects in a rat paralysis model based on the amyotrophic lateral sclerosis (ALS)-associated protein, TDP-43 (transactive response DNA-binding protein 43 kDa).", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 189, "end": 208}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 104, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "This study investigated possible associations between the TNFα-308G/A, IFN + 874A/T, IL-6-174C/G, IL-10-1082A/G, and TGFβ-509C/T polymorphisms with HIV-1 infection, in addition to correlation of the polymorphisms with clinical markers of AIDS progression, such as levels of CD4 +/CD8 + T lymphocytes and plasma viral load.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 117, "end": 121}], "disease": [{"text": "viral load", "start": 311, "end": 321}]}, "relations": {}}, "schema": []}
{"input": "In a family with clinical evidence of hereditary chronic pancreatitis, a missense mutation of codon 22 (GAC--> GGC) of the cationic trypsinogen was found.", "output": {"entities": {"gene": [{"text": "GGC", "start": 111, "end": 114}], "disease": [{"text": "chronic pancreatitis", "start": 49, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Pointing further to the involvement of VGSCs in schizophrenia, we found that these genes were enriched for nonsynonymous mutations (MAF ⩽ 0. 1%) in cases genotyped using an exome array, (5585 schizophrenia cases and 8103 controls), and that in the trios data, synaptic proteins interacting with VGSCs were also enriched for both compound heterozygosity (P = 0. 018) and de novo mutations (P = 0. 04).", "output": {"entities": {"gene": [{"text": "MAF", "start": 132, "end": 135}], "disease": [{"text": "schizophrenia", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The index case presented with severe PPH and was found to have the abnormal hemoglobin.", "output": {"entities": {"gene": [{"text": "PPH", "start": 37, "end": 40}], "disease": [{"text": "abnormal hemoglobin", "start": 67, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these novel findings suggest that APCDD1 positively regulates adipogenic differentiation and that its down-regulation by miR-130 during DIO may contribute to impaired adipogenic differentiation and obesity-related metabolic disease.", "output": {"entities": {"gene": [{"text": "APCDD1", "start": 50, "end": 56}], "disease": [{"text": "obesity", "start": 214, "end": 221}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APCDD1", "start": 50, "end": 56}, "tail": {"text": "obesity", "start": 214, "end": 221}}]}}, "schema": []}
{"input": "The role of Iex-1 in the pathogenesis of venous neointimal hyperplasia associated with hemodialysis arteriovenous fistula.", "output": {"entities": {"gene": [{"text": "Iex-1", "start": 12, "end": 17}], "disease": [{"text": "hyperplasia", "start": 59, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Our study establishes that VEGFR-3 is important for normal lymphatic vascular function and that mutations interfering with VEGFR-3 signal transduction are a cause of primary lymphoedema.", "output": {"entities": {"gene": [{"text": "VEGFR-3", "start": 27, "end": 34}], "disease": [{"text": "primary lymphoedema", "start": 166, "end": 185}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VEGFR-3", "start": 27, "end": 34}, "tail": {"text": "primary lymphoedema", "start": 166, "end": 185}}]}}, "schema": []}
{"input": "In vivo studies are necessary to definitely define the role of beta2 toxin in the development of cell cytotoxicity and subsequent diarrhoea.", "output": {"entities": {"gene": [{"text": "beta2", "start": 63, "end": 68}], "disease": [{"text": "diarrhoea", "start": 130, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-6 stimulation of growth of prostate cancer in vitro and in vivo through activation of the androgen receptor.", "output": {"entities": {"gene": [{"text": "Interleukin-6", "start": 0, "end": 13}], "disease": [{"text": "prostate cancer", "start": 39, "end": 54}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Interleukin-6", "start": 0, "end": 13}, "tail": {"text": "prostate cancer", "start": 39, "end": 54}}]}}, "schema": []}
{"input": "Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 96, "end": 103}], "disease": [{"text": "Episodic ataxia type 2", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 96, "end": 103}, "tail": {"text": "Episodic ataxia type 2", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "This study aimed to determine whether MIF1, MIF2 and NAGT are virulence factors for severe kala-azar.", "output": {"entities": {"gene": [{"text": "MIF1", "start": 38, "end": 42}], "disease": [{"text": "kala-azar", "start": 91, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Beta-globin haplotypes from blood spots for follow-up of newborn hemoglobinopathy screening.", "output": {"entities": {"gene": [{"text": "Beta-globin", "start": 0, "end": 11}], "disease": [{"text": "blood spots", "start": 28, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "EGFR-TK mutation frequency is high in never-smoking lung cancer patients and is exclusive of mutation in K-ras but not p53.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Taxol treatment froze the cell cycle in the G (2)/M phase, induced morphological changes characteristic of apoptotic/necrotic cell death and increased CYP3A4 enzymatic activity, CYP3A4 mRNA and protein levels in HepG2 cells overexpressing CYP3A4.", "output": {"entities": {"gene": [{"text": "CYP3A4", "start": 151, "end": 157}], "disease": [{"text": "necrotic cell death", "start": 117, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In the present work, a cooperative interaction between hypoxia, mediated by the HIF-1 complex, and transforming growth factor-beta (TGF-beta), mediated by Smad3/4, was revealed in the Epo gene.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 132, "end": 140}], "disease": [{"text": "hypoxia", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In addition, the cardiac level of AT1R but not AT2R was significantly upregulated in mild failing hearts (p < 0. 05) but dramatically downregulated in severe failing ones (p < 0. 01).", "output": {"entities": {"gene": [{"text": "AT1R", "start": 34, "end": 38}], "disease": [{"text": "mild", "start": 85, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Anthropometric measurements were taken and fasting glucose, insulin, homeostasis model assessment of insulin resistance (HOMA-IR), lipid profile, preptin, and osteocalcin were assessed.", "output": {"entities": {"gene": [{"text": "preptin", "start": 146, "end": 153}], "disease": [{"text": "insulin resistance", "start": 101, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "C-MYC and BCL2 translocation frequency in diffuse large B-cell lymphomas: A study of 97 patients.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 10, "end": 14}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "We find that the Drosophila homolog of DSCR1, Nebula, delays neurodegeneration and ameliorates axonal transport defects caused by APP overexpression.", "output": {"entities": {"gene": [{"text": "DSCR1", "start": 39, "end": 44}], "disease": [{"text": "neurodegeneration", "start": 61, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "[Significance of tumor necrosis factor-alpha gene polymorphism in patients with acute severe pancreatitis].", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 39, "end": 49}], "disease": [{"text": "pancreatitis", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In SHSY-5Y neuroblastoma cells, corticosterone induced a rapid increase in BACE expression that was abolished by specific inhibiton of JNK activation or by spironolactone, a mineralocorticoid receptor antagonist, but not by mifepristone, a glucocorticoid receptor antagonist.", "output": {"entities": {"gene": [{"text": "mineralocorticoid receptor", "start": 174, "end": 200}], "disease": [{"text": "neuroblastoma", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "This pilot study has compared the polymorphic genotype frequencies of methylenetetrahydrofolate reductase (MTHFR A1298C and C677T), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR A66G), and thymidylate synthase (TS 2R/3R) in 113 patients with sporadic colorectal adenocarcinoma (SCA) and 188 healthy blood donors, used as matched controls.", "output": {"entities": {"gene": [{"text": "MTRR", "start": 197, "end": 201}], "disease": [{"text": "colorectal adenocarcinoma", "start": 275, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "Our results showed the induction of HIF-1a via hypoxia and consequences of increased expressions of the TFF3 and VEGF in gastric cancer SGC-7901 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 113, "end": 117}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Pain enhancement occurs in response both to intrathecally administered fractalkine and to spinal fractalkine endogenously released by peripheral neuropathy.", "output": {"entities": {"gene": [{"text": "fractalkine", "start": 71, "end": 82}], "disease": [{"text": "peripheral neuropathy", "start": 134, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "EGR3", "start": 142, "end": 146}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGR3", "start": 142, "end": 146}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "In three children, the de novo variants were in genes with functional roles that are plausibly relevant to epilepsy (KCNH5, CLCN4, and ARHGEF15).", "output": {"entities": {"gene": [{"text": "KCNH5", "start": 117, "end": 122}], "disease": [{"text": "epilepsy", "start": 107, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCNH5", "start": 117, "end": 122}, "tail": {"text": "epilepsy", "start": 107, "end": 115}}]}}, "schema": []}
{"input": "Importantly, total baseline NPY methylation was associated with weight-loss regain (r =-0. 76; p < 0. 001), baseline plasma ghrelin levels (r = 0. 60; p = 0. 011) and leptin/ghrelin ratio (r =-0. 52; p = 0. 046).", "output": {"entities": {"gene": [{"text": "NPY", "start": 28, "end": 31}], "disease": [{"text": "weight", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Mice were treated intraperitoneally with cationic liposomes containing 200 micrograms of either a pCMV (cytomegalovirus)/p55 expression plasmid that contains the extracellular domain and transmembrane region of the human p55 TNF receptor, or a pcD-SR-alpha/hIL-10 expression plasmid containing the DNA for human interleukin 10.", "output": {"entities": {"gene": [{"text": "SR-alpha", "start": 248, "end": 256}], "disease": [{"text": "cytomegalovirus", "start": 104, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The sorcin-depleted phenotype can also be reproduced in lung adenocarcinoma A549 cells and lung fibrosarcoma HT1080 cells.", "output": {"entities": {"gene": [{"text": "sorcin", "start": 4, "end": 10}], "disease": [{"text": "fibrosarcoma", "start": 96, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Clinical diagnosis may not be possible in early life, because key features of PRLTS, for example infertility and premature ovarian failure, do not appear before puberty.", "output": {"entities": {"gene": [{"text": "PRLTS", "start": 78, "end": 83}], "disease": [{"text": "infertility", "start": 97, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Mutations occur in several genes in cytogenetically normal acute myeloid leukemia (AML) cells: the nucleophosmin gene (NPM1), the fms-related tyrosine kinase 3 gene (FLT3), the CCAAT/enhancer binding protein alpha gene (CEPBA), the myeloid-lymphoid or mixed-lineage leukemia gene (MLL), and the neuroblastoma RAS viral oncogene homolog (NRAS).", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 208, "end": 218}], "disease": [{"text": "cytogenetically normal acute myeloid leukemia", "start": 36, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "By exome sequencing we identified a homozygous missense mutation (p. Leu597Ser) in the SLC26A4 gene of a patient with hypoplastic thyroid tissue, who was otherwise healthy.", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 87, "end": 94}], "disease": [{"text": "hypoplastic thyroid", "start": 118, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC26A4", "start": 87, "end": 94}, "tail": {"text": "hypoplastic thyroid", "start": 118, "end": 137}}]}}, "schema": []}
{"input": "Lung EC-SOD overexpression attenuates hypoxic induction of Egr-1 and chronic hypoxic pulmonary vascular remodeling.", "output": {"entities": {"gene": [{"text": "EC-SOD", "start": 5, "end": 11}], "disease": [{"text": "vascular remodeling", "start": 95, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Tissue concentration of 7B2, pro-opiomelanocortin products (joining peptide and beta-endorphin) were measured in 13 pituitary corticotrophic adenomas and 13 non-pituitary tumours associated with the ectopic ACTH syndrome (five out of 20 bronchial carcinoid tumours, two out of 19 phaeochromocytomas, one out of 11 medullary thyroid carcinomas, three pancreatic and two thymic carcinoid tumours).", "output": {"entities": {"gene": [{"text": "7B2", "start": 24, "end": 27}], "disease": [{"text": "carcinomas", "start": 332, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "Thus our data suggest that Akt2/B23 functions as an oncogenic unit to drive tumorigenesis of A549 lung cancer cells.", "output": {"entities": {"gene": [{"text": "B23", "start": 32, "end": 35}], "disease": [{"text": "lung cancer", "start": 98, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Using surface markers, we have previously isolated a population of surface IgM-IgD + CD38 + GC B cells that carry the most impressive somatic mutation in their IgV genes.", "output": {"entities": {"gene": [{"text": "CD38", "start": 85, "end": 89}], "disease": [{"text": "somatic mutation", "start": 134, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Mice deficient in basic fibroblast growth factor-2 (FGF-2) showed reduced induction of HGF protein in ischemic muscles, and overexpression of FGF-2 via gene transfer stimulated endogenous HGF, irrespective of the presence of ischemia.", "output": {"entities": {"gene": [{"text": "HGF", "start": 87, "end": 90}], "disease": [{"text": "ischemia", "start": 225, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "In addition, tumors with conditional inactivation of both Brca1 (LoxP/LoxP) and p53 (LoxP/LoxP) exhibited greater genomic instability compared to an ovarian tumor with inactivation of only p53 (LoxP/LoxP).", "output": {"entities": {"gene": [{"text": "Brca1", "start": 58, "end": 63}], "disease": [{"text": "genomic instability", "start": 114, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2alpha protein.", "output": {"entities": {"gene": [{"text": "HIF2A", "start": 63, "end": 68}], "disease": [{"text": "erythrocytosis", "start": 26, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We found down regulation in mir-17p, mir-126, mir-335, mir-30b and also TIMP3, TMP1 and PDCD4 genes in the cancer tissue compared to the adjacent non-neoplastic tissues.", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 88, "end": 93}], "disease": [{"text": "non-neoplastic", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In primary ovarian cancers, CGIs of GPR150 (in 4 of 15 cancers), ITGA8 (2/15), PRTFDC1 (1/15), and HOXD11 (1/15) were methylated.", "output": {"entities": {"gene": [{"text": "GPR150", "start": 36, "end": 42}], "disease": [{"text": "cancers", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Collagen XVII (BP180) is a hemidesmosomal transmembrane component that has been hypothesized to participate in keratinocyte adhesion and motility.", "output": {"entities": {"gene": [{"text": "BP180", "start": 15, "end": 20}], "disease": [{"text": "adhesion", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "These genotype-phenotype correlations may facilitate molecular diagnosis and classification of PSACH and MED, and provide insight into the relationship between structure and function of the COMP gene product.", "output": {"entities": {"gene": [{"text": "COMP", "start": 190, "end": 194}], "disease": [{"text": "PSACH", "start": 95, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COMP", "start": 190, "end": 194}, "tail": {"text": "PSACH", "start": 95, "end": 100}}]}}, "schema": []}
{"input": "We compared the FTO gene expression in subcutaneous adipose tissue and peripheral blood mononuclear cells (PBMCs) between overweight and normal weight individuals.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 16, "end": 24}], "disease": [{"text": "overweight", "start": 122, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice.", "output": {"entities": {"gene": [{"text": "Fanconi anemia complementation group D2", "start": 21, "end": 60}], "disease": [{"text": "Fancd2", "start": 62, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Fanconi anemia complementation group D2", "start": 21, "end": 60}, "tail": {"text": "Fancd2", "start": 62, "end": 68}}]}}, "schema": []}
{"input": "Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 27, "end": 30}], "disease": [{"text": "male sterility", "start": 44, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We investigated the mechanisms by which interleukin-10 (IL-10) regulates antigen-specific hyporesponsiveness in asymptomatic microfilaremic (MF) individuals.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 56, "end": 61}], "disease": [{"text": "asymptomatic", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, unbalanced MMP/TIMP-1 expression and excessive gelatinolytic activity contribute to PQ-induced pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "TIMP-1", "start": 30, "end": 36}], "disease": [{"text": "pulmonary fibrosis", "start": 110, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TIMP-1", "start": 30, "end": 36}, "tail": {"text": "pulmonary fibrosis", "start": 110, "end": 128}}]}}, "schema": []}
{"input": "A relationship between these chromosomal aberrations and amplification of c-myc DNA has been suggested.", "output": {"entities": {"gene": [{"text": "c-myc", "start": 74, "end": 79}], "disease": [{"text": "chromosomal aberrations", "start": 29, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The t (12; 21) (p13; q22) translocation resulting in ETV6/RUNX1 (previously named TEL/AML1) gene fusion is present in about 25% of children with precursor B-lineage acute lymphoblastic leukemia (B-ALL).", "output": {"entities": {"gene": [{"text": "AML1", "start": 86, "end": 90}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Altogether, these results described a new molecular mechanism connexin 43-dependent targeted by griseofulvin leading to apoptosis of human germ cell tumor cells.", "output": {"entities": {"gene": [{"text": "connexin 43", "start": 62, "end": 73}], "disease": [{"text": "germ cell tumor", "start": 139, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.", "output": {"entities": {"gene": [{"text": "p11", "start": 35, "end": 38}], "disease": [{"text": "juvenile myoclonic epilepsy", "start": 56, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We then constructed recombinant adenovirus vectors, AdTTF-1 and ADTGTK: AdTTF-1 contained cytomegalovirus promoter and rat TTF-1 cDNA; AdTGTK carried the TG promoter-driven HSV-TK gene.", "output": {"entities": {"gene": [{"text": "TTF-1", "start": 54, "end": 59}], "disease": [{"text": "cytomegalovirus", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Translocation t (12; 16) (q13; p11) is regarded as a diagnostic marker for myxoid liposarcoma.", "output": {"entities": {"gene": [{"text": "p11", "start": 31, "end": 34}], "disease": [{"text": "myxoid liposarcoma", "start": 75, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.", "output": {"entities": {"gene": [{"text": "LHX2", "start": 13, "end": 17}], "disease": [{"text": "growth retardation", "start": 41, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Subjects older than 60 years with normal cognition, MCI or AD were enrolled from the memory clinic from 2000 to 2008.", "output": {"entities": {"gene": [{"text": "MCI", "start": 52, "end": 55}], "disease": [{"text": "normal cognition", "start": 34, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Colorectal cancer (CRC) cell lines displaying microsatellite instability (MSI) are resistant to 5-fluorouracil (5-FU) in vitro, which can be overcome by restoring DNA mismatch repair (MMR) competence.", "output": {"entities": {"gene": [{"text": "MMR", "start": 184, "end": 187}], "disease": [{"text": "microsatellite instability", "start": 46, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The STRAD gene, encoding an LKB1 interacting protein that activates LKB1, which subsequently leads to polarisation of cells, is an interesting candidate for a second PJS gene and a potential tumour suppressor gene in sporadic carcinomas.", "output": {"entities": {"gene": [{"text": "STRAD", "start": 4, "end": 9}], "disease": [{"text": "sporadic", "start": 217, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "However, Bcl-2-positive neoplastic cells were present in all four cases of systemic follicular lymphoma, including the case that did not show a t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 9, "end": 14}], "disease": [{"text": "translocation", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "DDX3 expression was investigated by immunohistochemistry in breast cancer in comparison with hypoxia related proteins HIF-1α, GLUT1, CAIX, EGFR, HER2, Akt1, FOXO4, p53, ERα, COMMD1, FER kinase, PIN1, E-cadherin, p21, p27, Transferrin receptor, FOXO3A, c-Met and Notch1.", "output": {"entities": {"gene": [{"text": "FER", "start": 182, "end": 185}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In the current study, to elucidate the clinical significance of and atherogenicity in marked HALP, we determined the incidence of atherosclerotic cardiovascular disease (ACD) in patients with marked HALP and characterized the lipoprotein abnormalities in those who had ACD, focusing especially on CETP and HTGL.", "output": {"entities": {"gene": [{"text": "HTGL", "start": 306, "end": 310}], "disease": [{"text": "abnormalities", "start": 238, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Expression of HSD17B2 was 3. 0-fold increased, and expression of SRD5A2 was 3. 7-fold decreased, in EC versus adjacent control endometrium.", "output": {"entities": {"gene": [{"text": "SRD5A2", "start": 65, "end": 71}], "disease": [{"text": "EC", "start": 100, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRD5A2", "start": 65, "end": 71}, "tail": {"text": "EC", "start": 100, "end": 102}}]}}, "schema": []}
{"input": "We hypothesized in humans that increased collagen VI alpha3-subunit (COL6A3) mRNA is associated with adipose tissue macrophage chemotaxis and inflammation and that weight gain is accompanied by changes in the expression of COL6A3.", "output": {"entities": {"gene": [{"text": "COL6A3", "start": 69, "end": 75}], "disease": [{"text": "inflammation", "start": 142, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We assessed the expression of apoptosis genes (GSK3-B, AKT-1, Bcl-2), inflammatory cytokines (TNFalpha, TNF-RI, TNF-RII, IL-6, IL-6R), anti-inflammatory IL-10, CRP and alphaFP by reverse transcription-polymerase chain reaction (RT-PCR) in 33 HCC, 25 chronic hepatitis and 16 asymptomatic HCV carrier positive for HCV subjects.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 62, "end": 67}], "disease": [{"text": "asymptomatic", "start": 275, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "Peripherally administered GM-CSF interferes with scopolamine-induced amnesia in mice: involvement of interleukin-1.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 26, "end": 32}], "disease": [{"text": "amnesia", "start": 69, "end": 76}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GM-CSF", "start": 26, "end": 32}, "tail": {"text": "amnesia", "start": 69, "end": 76}}]}}, "schema": []}
{"input": "We report here a new erythrocytosis-associated mutation, p. Asp539Glu, in the HIF2A gene.", "output": {"entities": {"gene": [{"text": "HIF2A", "start": 78, "end": 83}], "disease": [{"text": "erythrocytosis", "start": 21, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "This case suggests that marijuana smoking may increase the risk of arterial thrombosis in otherwise healthy individuals who are heterozygous for factor V Leiden.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 145, "end": 160}], "disease": [{"text": "arterial thrombosis", "start": 67, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Compared to the PRISM HBsAg and HBsAg Prototype 1 assays, the HBsAg Prototype 2 assay detected two additional samples of 32 HBV DNA-positive samples obtained from blood donors with occult HBV and one of seven from blood donors with early window period infections.", "output": {"entities": {"gene": [{"text": "PRISM", "start": 16, "end": 21}], "disease": [{"text": "infections", "start": 252, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients.", "output": {"entities": {"gene": [{"text": "MEFV", "start": 45, "end": 49}], "disease": [{"text": "FMF", "start": 93, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEFV", "start": 45, "end": 49}, "tail": {"text": "FMF", "start": 93, "end": 96}}]}}, "schema": []}
{"input": "Thus, relapses of MAC lung disease with these macrolide regimens are unusual, and most infections after completing therapy resulted from new strains in patients with nodular bronchiectasis.", "output": {"entities": {"gene": [{"text": "MAC", "start": 18, "end": 21}], "disease": [{"text": "infections", "start": 87, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Identification of human asparaginyl endopeptidase (legumain) as an inhibitor of osteoclast formation and bone resorption.", "output": {"entities": {"gene": [{"text": "legumain", "start": 51, "end": 59}], "disease": [{"text": "bone resorption", "start": 105, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Initially, we examined the transfection of' naked' human HGF plasmid into a rat hindlimb ischemia model.", "output": {"entities": {"gene": [{"text": "HGF", "start": 57, "end": 60}], "disease": [{"text": "ischemia", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In addition, we report the presence of pigmented skin lesions in PRKAR1A and PDE4D patients, a feature not yet described in the acrodysostosis entity.", "output": {"entities": {"gene": [{"text": "PDE4D", "start": 77, "end": 82}], "disease": [{"text": "skin lesions", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "This study indicates that abnormal liver function and chronic liver disease are associated with DMF exposure, and there are more than multiplicative interaction effects on abnormal liver function tests between the DMF exposure and the GSTT1 genotype.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 235, "end": 240}], "disease": [{"text": "abnormal liver function", "start": 26, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Multivariate regression modelling was applied to assess the association of T4 dosing with polymorphisms in UGT1A1 (rs8175347), UGT1A3 (rs3806596 and rs1983023), DIO1 (rs11206244 and rs2235544) and DIO2 (rs225014 and rs12885300), demographic and clinical variables.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 107, "end": 113}], "disease": [{"text": "regression", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Clinicopathological and epidemiological analysis of patients showed that the abnormal FHIT transcripts were not associated with age, tumor-node-metastasis classification, tumor size, estrogen receptor and progesterone receptor status, local metastasis, family history of breast cancer, or lifestyle factors of patients, including cigarette smoking and alcohol consumption.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 86, "end": 90}], "disease": [{"text": "alcohol consumption", "start": 352, "end": 371}]}, "relations": {}}, "schema": []}
{"input": "To analyze the in vivo biological effect of anti-interferon beta (IFN-beta) neutralizing antibodies (NABs), blood concentrations of neopterin, beta2microglobulin (Beta2-MG), mRNA-dependent myxovirusresistant protein A (MxA) and dsRNA-dependent protein kinase (PKR) were measured before (predose) and 24 hours after (postdose) IFN-beta administration in 49 patients with multiple sclerosis (MS) with (n = 25) and without (n = 24) NABs.", "output": {"entities": {"gene": [{"text": "Beta2", "start": 163, "end": 168}], "disease": [{"text": "multiple sclerosis", "start": 370, "end": 388}]}, "relations": {}}, "schema": []}
{"input": "Similarly, in a subgroup analysis of clinical manifestation of lupus nephritis (LN), no significant differences were found between the non-LN group and the LN group (G/G vs. A/G vs. A/A: χ (2) = 0. 611, p = 0. 631; G vs. A: χ (2) = 0. 411, p = 0. 521). These findings suggest that the IRF4 gene polymorphism is not associated with SLE in a Chinese Han population; further studies are needed to establish the role of IRF4 in SLE with a larger sample size.", "output": {"entities": {"gene": [{"text": "IRF4", "start": 285, "end": 289}], "disease": [{"text": "lupus nephritis", "start": 63, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The 15-Hz flicker ERG abnormalities found in patients with mutations in GPR179 more closely resemble those from patients with mutations in either TRPM1 or NYX than in GRM6.", "output": {"entities": {"gene": [{"text": "ERG", "start": 18, "end": 21}], "disease": [{"text": "abnormalities", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "),-21,-22 [20]/idemx2 [5] and displays known, chordoma-typical genetic changes, such as chromosomal gains at T/brachyury locus (6q27), losses at 9p24. 3-p13. 1 (includes the CDKN2a/CDKN2b locus), 10p15. 3-q23. 32 (includes the PTEN locus) and losses of 10q25. 2 (includes the PDCD4 locus).", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 276, "end": 281}], "disease": [{"text": "chordoma", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Here, we hypothesized that BA may also act as a ligand for AhR and possibly regulate the melanogenic pathway to induced hyperpigmentation.", "output": {"entities": {"gene": [{"text": "AhR", "start": 59, "end": 62}], "disease": [{"text": "hyperpigmentation", "start": 120, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AhR", "start": 59, "end": 62}, "tail": {"text": "hyperpigmentation", "start": 120, "end": 137}}]}}, "schema": []}
{"input": "The expression of the transcription factors ATF-1 and CREB is upregulated in metastatic melanoma cells.", "output": {"entities": {"gene": [{"text": "CREB", "start": 54, "end": 58}], "disease": [{"text": "metastatic melanoma", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Deletions encompassing ABL-BCR were detected in 37% of patients, consistent with a model in which a greater number of chromosome breaks increases the risk of genomic loss.", "output": {"entities": {"gene": [{"text": "BCR", "start": 27, "end": 30}], "disease": [{"text": "chromosome breaks", "start": 118, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In order to define genetic determinants of primary and metastatic melanoma cell susceptibility to tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), we have applied oligonucleotide microarrays to TRAIL-sensitive primary T1 cells and TRAIL-resistant metastatic G1 cells treated or not with TRAIL.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 155, "end": 160}], "disease": [{"text": "metastatic melanoma", "start": 55, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Mismatch-repair (MMR) immunohistochemistry is used to detect tumor MMR deficiency associated with high-level microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 17, "end": 20}], "disease": [{"text": "microsatellite instability", "start": 109, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Clinical and neuroimaging findings are important clues to raise suspicion and to reach diagnostic accuracy for RARS2 mutations considering that biochemical abnormalities may be absent in muscle biopsy.", "output": {"entities": {"gene": [{"text": "RARS2", "start": 111, "end": 116}], "disease": [{"text": "abnormalities", "start": 156, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Together, these results indicate that activation of a RASAL2/ARHGAP24/RAC1 module contributes to TNBC tumorigenesis and identify a context-dependent role of RASAL2 in breast cancer.", "output": {"entities": {"gene": [{"text": "ARHGAP24", "start": 61, "end": 69}], "disease": [{"text": "tumorigenesis", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, a correlation was found between aggressiveness of these cell lines and expression of WAVE3.", "output": {"entities": {"gene": [{"text": "WAVE3", "start": 98, "end": 103}], "disease": [{"text": "aggressiveness", "start": 45, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.", "output": {"entities": {"gene": [{"text": "KCNE2", "start": 20, "end": 25}], "disease": [{"text": "familial atrial fibrillation", "start": 69, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCNE2", "start": 20, "end": 25}, "tail": {"text": "familial atrial fibrillation", "start": 69, "end": 97}}]}}, "schema": []}
{"input": "Moreover, we demonstrate that ING4 suppression in MM cells up-regulated IL-8 and OPN, increasing the hypoxia inducible factor-1alpha (HIF-1alpha) activity and its target gene NIP-3 expression in hypoxic condition.", "output": {"entities": {"gene": [{"text": "NIP", "start": 175, "end": 178}], "disease": [{"text": "hypoxic", "start": 195, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "AAV-HGFK1 significantly inhibited osteolytic bone metastasis and prolonged the survival of mice in this model (P < 0. 01).", "output": {"entities": {"gene": [{"text": "AAV", "start": 0, "end": 3}], "disease": [{"text": "bone metastasis", "start": 45, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Pak1 in the cytoplasm was an independent prognostic marker, indicating increased recurrence rate (HR, 1. 79; 95% CI, 1. 17-2. 74; P = 0. 0068) and breast cancer mortality (HR, 1. 98; 95% CI, 1. 14-3. 46; P = 0. 016) for patients randomized to no adjuvant treatment.", "output": {"entities": {"gene": [{"text": "Pak1", "start": 0, "end": 4}], "disease": [{"text": "breast cancer", "start": 147, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pak1", "start": 0, "end": 4}, "tail": {"text": "breast cancer", "start": 147, "end": 160}}]}}, "schema": []}
{"input": "We assessed the association of a genetic variation of LRP1 (663C > T) with basal FVIII levels and the risk of venous thrombosis in a group of high-risk patients and in healthy controls.", "output": {"entities": {"gene": [{"text": "LRP1", "start": 54, "end": 58}], "disease": [{"text": "venous thrombosis", "start": 110, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Among them, miR-182 related to the insulin resistance by modulating FOXO1 and PI3K/AKT cascade and had the greatest copy number in the whole blood.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 78, "end": 82}], "disease": [{"text": "insulin resistance", "start": 35, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Implication of tyrosine kinase receptor and steel factor in cell density-dependent growth in cervical cancers and leukemias.", "output": {"entities": {"gene": [{"text": "steel factor", "start": 44, "end": 56}], "disease": [{"text": "leukemias", "start": 114, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The purpose of the present study was to analyze the relation between the expression of p53, bcl-2, p21WAF1, MIB-1, HER-2/neu, DNA ploidy and HPV16 or 18 infections with clinical parameters.", "output": {"entities": {"gene": [{"text": "MIB-1", "start": 108, "end": 113}], "disease": [{"text": "infections", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Differentially upregulated genes in ulcerative colitis included serum amyloid A1 (SAA1) (p < 10 (-45)) the alpha defensins 5 and 6 (DEFA5 and 6) (p = 0. 00003 and p = 6. 95x10 (-7), respectively), matrix metalloproteinase 3 (MMP3) (p = 5. 6x10 (-10)) and MMP7 (p = 2. 3x10 (-7)).", "output": {"entities": {"gene": [{"text": "SAA1", "start": 82, "end": 86}], "disease": [{"text": "ulcerative colitis", "start": 36, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that, the absence of C-1-INA, may, by itself trigger the dissociation and autoactivation of C1 in the sera of such patients; however, the presence of other complement activators accelerates the reaction.", "output": {"entities": {"gene": [{"text": "C-1", "start": 43, "end": 46}], "disease": [{"text": "dissociation", "start": 79, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The COMT polymorphism rs165599 and the BDNF polymorphism rs10835211 were found to predict dysphagia and have an interactive effect (p = 0. 028), which varied according to the carrier status of the other.", "output": {"entities": {"gene": [{"text": "COMT", "start": 4, "end": 8}], "disease": [{"text": "dysphagia", "start": 90, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We found four different PAX8 mutations (p. R31C, p. R31H, p. R108X, and p. I47T) in ten patients (six patients with CH and four family members), two with sporadic and eight with familial diseases.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 24, "end": 28}], "disease": [{"text": "sporadic", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress.", "output": {"entities": {"gene": [{"text": "PAP", "start": 32, "end": 35}], "disease": [{"text": "respiratory distress", "start": 166, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Analysis in 53 tumors confirmed the presence of 7 variants of this fusion transcript in 29 tumors (55%), representing a lower bound for fusion frequency at this locus and suggesting that the NAB2-STAT6 fusion is a distinct molecular feature of SFTs.", "output": {"entities": {"gene": [{"text": "STAT6", "start": 196, "end": 201}], "disease": [{"text": "SFT", "start": 244, "end": 247}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STAT6", "start": 196, "end": 201}, "tail": {"text": "SFT", "start": 244, "end": 247}}]}}, "schema": []}
{"input": "Mdr2 (-/-) IKK2 (Hep-KO) mice remarkably recapitulate chronic liver failure in humans and might be of special importance for the study of the mechanisms contributing to the pathogenesis of end-stage chronic liver disease or its implications on other organs.", "output": {"entities": {"gene": [{"text": "Mdr2", "start": 0, "end": 4}], "disease": [{"text": "chronic liver failure", "start": 54, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mdr2", "start": 0, "end": 4}, "tail": {"text": "chronic liver failure", "start": 54, "end": 75}}]}}, "schema": []}
{"input": "This GWAS identified two loci involved in sporadic DCM, one of them probably implicates BAG3.", "output": {"entities": {"gene": [{"text": "BAG3", "start": 88, "end": 92}], "disease": [{"text": "sporadic", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Although gadolinium and NER (plaque) correlated well for both techniques, the NER of plaque was higher for inversion-recovery fast spin echo than for fast spin echo.", "output": {"entities": {"gene": [{"text": "NER", "start": 24, "end": 27}], "disease": [{"text": "plaque", "start": 29, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Taken together our results indicate that bcl-2 plays an important role in melanoma angiogenesis, and that VEGF mRNA stabilization and HIF-1-mediated transcriptional activity are two important control points in bcl-2/hypoxia-induced VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 106, "end": 110}], "disease": [{"text": "hypoxia", "start": 216, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "In vitro, overexpression and knockdown of Beclin proteins were performed on an oral cancer cell line, SAS.", "output": {"entities": {"gene": [{"text": "SAS", "start": 102, "end": 105}], "disease": [{"text": "oral cancer", "start": 79, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, gastric acid suppression and potential enhancement of platelet aggregation may contribute to the beneficial outcome after treatment of oesophageal varices with somatostatin.", "output": {"entities": {"gene": [{"text": "somatostatin", "start": 173, "end": 185}], "disease": [{"text": "oesophageal varices", "start": 148, "end": 167}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "somatostatin", "start": 173, "end": 185}, "tail": {"text": "oesophageal varices", "start": 148, "end": 167}}]}}, "schema": []}
{"input": "Hydrogen peroxide induced S100A4 oxidation in MKN-45 gastric adenocarcinoma cells and decreased S100A1‑PP5 interaction, resulted in the inhibition of PP5 activation by S100A1.", "output": {"entities": {"gene": [{"text": "S100A1", "start": 96, "end": 102}], "disease": [{"text": "gastric adenocarcinoma", "start": 53, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry for DNA MMR showed loss of at least 1 protein in 9 of 54 cases (16%) with slight predominance of MSH2/MSH6 abnormalities (5 of 9) compared with loss of MLH1/PMS2.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 123, "end": 127}], "disease": [{"text": "abnormalities", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrated an association between rs929387 of GLI3 and non-syndromic tooth agenesis in Chinese Han individuals.", "output": {"entities": {"gene": [{"text": "GLI3", "start": 59, "end": 63}], "disease": [{"text": "tooth agenesis", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The goal of this article is to describe the presence of myofibroblasts in HGF in order to elucidate the mechanisms underlying HGF gingival overgrowth.", "output": {"entities": {"gene": [{"text": "HGF", "start": 74, "end": 77}], "disease": [{"text": "gingival overgrowth", "start": 130, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "One of the mechanisms for this effect is the inhibition of cytokine-induced bone resorption, which is mediated in part through an interaction between the estrogen receptor (ER) and nuclear factor (NF)-kappaB in osteoblasts.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 154, "end": 171}], "disease": [{"text": "bone resorption", "start": 76, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Finally, silencing Rev7 in primary hematopoietic cells impaired progenitor function, suggesting that the DNA repair defect underlies the development of BMF in FA.", "output": {"entities": {"gene": [{"text": "Rev7", "start": 19, "end": 23}], "disease": [{"text": "FA", "start": 159, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Rev7", "start": 19, "end": 23}, "tail": {"text": "FA", "start": 159, "end": 161}}]}}, "schema": []}
{"input": "In tumors where only central parts express hypoxia-induced VEGF-A, the larger angiogenic isoforms are retained by extracellular matrix, leaving only freely diffusible VEGF-A (121) to exert its dilatation effects on distant vessels.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 59, "end": 65}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Logistic regression was performed to investigate the association of smoking and selected susceptibility variants in the LT pathway including ALOX5AP, LTA4H, LTC4S, PON1, and LTA as well as CYP1A1 on CAD risk while controlling for age, gender, BMI, family history, diabetes, hyperlipidemia, and hypertension.", "output": {"entities": {"gene": [{"text": "LTC4S", "start": 157, "end": 162}], "disease": [{"text": "smoking", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Hypothalamic neurons that express neuropeptide Y (NPY) and agouti-related protein (AgRP) are thought to be critical regulators of feeding behavior and body weight.", "output": {"entities": {"gene": [{"text": "NPY", "start": 50, "end": 53}], "disease": [{"text": "body weight", "start": 151, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The expression of all other cytokines (LIF, IL-11, CNTF) and receptors (IL-6-R, LIF-R, IL-11-R, OSM-R, CNTF-R) was found in different patterns in the adenoma subtypes and normal pituitaries.", "output": {"entities": {"gene": [{"text": "OSM", "start": 96, "end": 99}], "disease": [{"text": "adenoma", "start": 150, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that PALB2 is a breast cancer susceptibility gene that, in a suitably mutant form, may also contribute to familial prostate cancer development.", "output": {"entities": {"gene": [{"text": "PALB2", "start": 28, "end": 33}], "disease": [{"text": "breast cancer", "start": 39, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PALB2", "start": 28, "end": 33}, "tail": {"text": "breast cancer", "start": 39, "end": 52}}]}}, "schema": []}
{"input": "Our in silico mutagenesis and modeling analysis suggest that the GGM genetic variations lead to conformational changes either by structure destabilization or by formation of unnecessary interaction within the core structure of SGLT1 thereby explaining the genetic defects in Na (+) dependent sugar translocation across the cell membrane.", "output": {"entities": {"gene": [{"text": "SGLT1", "start": 227, "end": 232}], "disease": [{"text": "translocation", "start": 298, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the functional significance of a TF, Yin Yang1 (YY1) in tumorigenesis of endometrioid endometrial carcinoma (EEC).", "output": {"entities": {"gene": [{"text": "YY1", "start": 79, "end": 82}], "disease": [{"text": "endometrial carcinoma", "start": 117, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In response to tumor development, cells initially undergo invasion and metastasis followed by epithelial-mesenchymal transition (EMT, a process by which cells acquire motility) and overriding senescence (an endogenous defense mechanism against tumor progression).", "output": {"entities": {"gene": [{"text": "EMT", "start": 129, "end": 132}], "disease": [{"text": "tumor progression", "start": 244, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Of importance, no cerebral edema or destruction of the blood-brain barrier was observed in rats transfected with the HGF gene.", "output": {"entities": {"gene": [{"text": "HGF gene", "start": 117, "end": 125}], "disease": [{"text": "cerebral edema", "start": 18, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The oxygen-regulated α-subunit of hypoxia-inducible transcription factor-1 (HIF-1α) represents a key mechanism involved in the transcriptional regulation of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 157, "end": 161}], "disease": [{"text": "hypoxia", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.", "output": {"entities": {"gene": [{"text": "SUOX", "start": 62, "end": 66}], "disease": [{"text": "sulfite oxidase deficiency", "start": 107, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SUOX", "start": 62, "end": 66}, "tail": {"text": "sulfite oxidase deficiency", "start": 107, "end": 133}}]}}, "schema": []}
{"input": "Here, we report the overexpression of CD4 (+) and CD8 (+) T cell PD-1 and elevated serum levels of soluble PD-1 in aplastic anemia (AA) patients.", "output": {"entities": {"gene": [{"text": "CD8", "start": 50, "end": 53}], "disease": [{"text": "anemia", "start": 124, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Both monostotic fibrous dysplasia and McCune-Albright syndrome are sporadically occurring disorders in which a mutation in the GNAS1 gene occurs postzygotically in a somatic cell.", "output": {"entities": {"gene": [{"text": "GNAS1", "start": 127, "end": 132}], "disease": [{"text": "monostotic fibrous dysplasia", "start": 5, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAS1", "start": 127, "end": 132}, "tail": {"text": "monostotic fibrous dysplasia", "start": 5, "end": 33}}]}}, "schema": []}
{"input": "The study population comprised of 163 adolescents (95 boys and 68 girls) and their parents (97 men and 96 women). We used multivariable-adjusted logistic regression analysis, and classification and regression tree (CART) analysis incorporating both the genetic (ADRB2 R16G genotype) and environmental (overeating, smoking status, and parent' s obese status) variables.", "output": {"entities": {"gene": [{"text": "ADRB2", "start": 262, "end": 267}], "disease": [{"text": "overeating", "start": 302, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "Expression of the genes coding for hyaluronan synthase 1 (HAS1), HAS2, HAS3, CD44, fibroblast growth factor-2 (FGF-2), and FGF receptor-1 (FGFR-1) and the histological evidence for increases of HA and CD44 were investigated in an experimental rat model of cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "FGF receptor", "start": 123, "end": 135}], "disease": [{"text": "cardiac hypertrophy", "start": 256, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "It is not clear whether there is a causal relationship between the NRXN1 deletion and gonadal dysgenesis, but it is of interest that the FSHR gene, which encodes the follicle-stimulating hormone receptor causative correlation that is mutated in ovarian dysgenesis, is located proximal to the NRXN1 gene.", "output": {"entities": {"gene": [{"text": "NRXN1 gene", "start": 292, "end": 302}], "disease": [{"text": "ovarian dysgenesis", "start": 245, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Serum analysis using immunoprecipitation and MALDI/TOF MS system can provide useful information when investigating FAP patients with diverse types of variant TTR.", "output": {"entities": {"gene": [{"text": "TTR", "start": 158, "end": 161}], "disease": [{"text": "FAP", "start": 115, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTR", "start": 158, "end": 161}, "tail": {"text": "FAP", "start": 115, "end": 118}}]}}, "schema": []}
{"input": "A recessive homozygous p. Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 35, "end": 39}], "disease": [{"text": "mitochondrial complex II deficiency", "start": 93, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHD", "start": 35, "end": 39}, "tail": {"text": "mitochondrial complex II deficiency", "start": 93, "end": 128}}]}}, "schema": []}
{"input": "Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.", "output": {"entities": {"gene": [{"text": "3-hydroxy-3-methylglutaryl CoA lyase", "start": 58, "end": 94}], "disease": [{"text": "HL) deficiency", "start": 96, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "3-hydroxy-3-methylglutaryl CoA lyase", "start": 58, "end": 94}, "tail": {"text": "HL) deficiency", "start": 96, "end": 110}}]}}, "schema": []}
{"input": "A novel human leukaemia cell line, designated TMD7, was established from blast cells of a patient with de novo acute myeloblastic leukaemia with trilineage myelodysplasia (AML/TLD).", "output": {"entities": {"gene": [{"text": "TLD", "start": 176, "end": 179}], "disease": [{"text": "myelodysplasia", "start": 156, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "However, the role of KIF26B during tumorigenesis and progression is limited.", "output": {"entities": {"gene": [{"text": "KIF26B", "start": 21, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "P311 is an 8-kDa intracellular protein that is highly conserved across species and is expressed in the nervous system as well as in vascular and visceral smooth muscle cells.", "output": {"entities": {"gene": [{"text": "P311", "start": 0, "end": 4}], "disease": [{"text": "nervous system", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In the CHB groups, the levels of IFN-gamma in the supernatants of PBMCs stimulated by HBcAg alone were lower than both those stimulated by HBcAg and IL-18 at various concentrations and those stimulated by HBcAg and IL-18 (5. 0 ng/ml) together with IL-12 (mild: t = 2. 20, P < 0. 05; moderate: t = 2. 97, P < 0. 05; severe: t = 0. 66, P > 0. 05).", "output": {"entities": {"gene": [{"text": "IL-18", "start": 149, "end": 154}], "disease": [{"text": "mild", "start": 255, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "SMAD1/5/8 phosphorylation and in parallel hepcidin mRNA expression were increased in anemia of chronic disease but significantly down-regulated in anemia of chronic disease with concomitant iron deficiency, either on the basis of phlebotomy or dietary iron restriction.", "output": {"entities": {"gene": [{"text": "SMAD1", "start": 0, "end": 5}], "disease": [{"text": "anemia of chronic disease", "start": 85, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Human IL-21 + IFN-γ + CD4 + T cells in nasal polyps are regulated by IL-12.", "output": {"entities": {"gene": [{"text": "CD4", "start": 22, "end": 25}], "disease": [{"text": "nasal polyps", "start": 39, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of polymorphisms in the sulfonamide detoxification genes NAT2, CYB5A, and CYB5R3 in patients with sulfonamide hypersensitivity.", "output": {"entities": {"gene": [{"text": "CYB5A", "start": 74, "end": 79}], "disease": [{"text": "hypersensitivity", "start": 121, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "MiR-132, miR-15a and miR-16 synergistically inhibit pituitary tumor cell proliferation, invasion and migration by targeting Sox5.", "output": {"entities": {"gene": [{"text": "Sox5", "start": 124, "end": 128}], "disease": [{"text": "pituitary tumor", "start": 52, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "To test if TLR4 functions as a true receptor for DAMP, we compared TLR4 (pos)-and TLR4 (neg)-responders in vitro and in vivo after stimulation with whole necrotic cell (NC) lysates.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 11, "end": 15}], "disease": [{"text": "necrotic", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation in GJB2, p. Tyr65His, causes severe Vohwinkel syndrome.", "output": {"entities": {"gene": [{"text": "GJB2", "start": 29, "end": 33}], "disease": [{"text": "Vohwinkel syndrome", "start": 62, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJB2", "start": 29, "end": 33}, "tail": {"text": "Vohwinkel syndrome", "start": 62, "end": 80}}]}}, "schema": []}
{"input": "In the present study, we evaluated the effects of PTHrP and/or dihydrotestosterone (DHT) treatment on DNA synthesis by thymidine incorporation in androgen-dependent (LnCaP) and androgen-independent (PC3) human prostate adenocarcinoma cell lines.", "output": {"entities": {"gene": [{"text": "PC3", "start": 199, "end": 202}], "disease": [{"text": "prostate adenocarcinoma", "start": 210, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "SOX2 promotes tumorigenesis and increases the anti-apoptotic property of human prostate cancer cell.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Mutations in CSF3R are common in patients with CNL or atypical CML and represent a potentially useful criterion for diagnosing these neoplasms.", "output": {"entities": {"gene": [{"text": "CSF3R", "start": 13, "end": 18}], "disease": [{"text": "CNL", "start": 47, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CSF3R", "start": 13, "end": 18}, "tail": {"text": "CNL", "start": 47, "end": 50}}]}}, "schema": []}
{"input": "Our results show, that the exposure of three metastatic melanoma cell lines (A2058, SK-Mel-5, and WM-266-4) to recombinant TIMP-3, N-terminal MMP inhibitory domain of TIMP-3, as well as to adenovirally expressed TIMP-3 results in stabilization of tumor necrosis factor receptor-1 (TNF-RI), FAS, and TNF-related apoptosis inducing ligand receptor-1 (TRAIL-RI) on melanoma cell surface and sensitizes these cells to apoptosis induced by TNF-alpha, anti-Fas-antibody and TRAIL.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 349, "end": 354}], "disease": [{"text": "metastatic melanoma", "start": 45, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 22, "end": 43}], "disease": [{"text": "Fabry disease", "start": 61, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 22, "end": 43}, "tail": {"text": "Fabry disease", "start": 61, "end": 74}}]}}, "schema": []}
{"input": "We identified a significant change of FGF2 expression in the FDM eyes but FGF2 genetic variants are unlikely to influence susceptibility to myopia.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 38, "end": 42}], "disease": [{"text": "myopia", "start": 140, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Therefore, polymorphisms in NER genes may modify the relationship between breast cancer and smoking.", "output": {"entities": {"gene": [{"text": "NER", "start": 28, "end": 31}], "disease": [{"text": "smoking", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The adhesion rate of DPPIV-transfected SKOV3 (SKDPIV) cells to fibronectin-coated plates was significantly higher than SKOV3 cells, while there was no difference in the adhesion rate to non-coated plates between SKDPIV and SKOV3 cells.", "output": {"entities": {"gene": [{"text": "DPPIV", "start": 21, "end": 26}], "disease": [{"text": "adhesion", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Penetrance for MTC is 52% by age 30 and 83% by age 50, for pheochromocytoma penetrance is 20% by age 30 and 67% by age 50, and for HPT penetrance is 3% by age 30 and 21% by age 50.", "output": {"entities": {"gene": [{"text": "HPT", "start": 131, "end": 134}], "disease": [{"text": "pheochromocytoma", "start": 59, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We found that FTO in men and MMP2 in women are associated with weight gain over a 10-year follow-up period.", "output": {"entities": {"gene": [{"text": "FTO", "start": 14, "end": 17}], "disease": [{"text": "weight gain", "start": 63, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FTO", "start": 14, "end": 17}, "tail": {"text": "weight gain", "start": 63, "end": 74}}]}}, "schema": []}
{"input": "These findings suggest stage-dependent dual roles of ASC in tumorigenesis.", "output": {"entities": {"gene": [{"text": "ASC", "start": 53, "end": 56}], "disease": [{"text": "tumorigenesis", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Autoantibodies against aromatic L-amino acid decarboxylase (AADC) are present in about 50 percent of sera from patients with autoimmune polyendocrine syndrome type I (APS I) but absent in sera from patients with different organ-specific autoimmune diseases, such as insulin-dependent diabetes mellitus, Hashimoto' s thyroiditis, and Graves' disease.", "output": {"entities": {"gene": [{"text": "AADC", "start": 60, "end": 64}], "disease": [{"text": "autoimmune diseases", "start": 237, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrated that miR-424 was involved in tumorigenesis of HCC at least in part by suppression of c-Myb.", "output": {"entities": {"gene": [{"text": "c-Myb", "start": 110, "end": 115}], "disease": [{"text": "tumorigenesis", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to investigate the clinicopathological significance of PLK1 expression in malignant glioma.", "output": {"entities": {"gene": [{"text": "PLK1", "start": 85, "end": 89}], "disease": [{"text": "malignant glioma", "start": 104, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLK1", "start": 85, "end": 89}, "tail": {"text": "malignant glioma", "start": 104, "end": 120}}]}}, "schema": []}
{"input": "No mutations were found in the coding region of GDNF in DNA samples from 9 RET mutation negative MEN 2 individuals (comprising 6 distinct families), 12 sporadic MTCs, 17 sporadic cases of parathyroid adenoma, and 10 small cell lung cancer cell lines.", "output": {"entities": {"gene": [{"text": "GDNF", "start": 48, "end": 52}], "disease": [{"text": "parathyroid adenoma", "start": 188, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "We also looked at the expression of thymic stromal lymphopoietin (TSLP) in giant papillae of patients with vernal keratoconjunctivitis and examined whether the as Toll-like receptor 3 ligand polyinosinic: polycytidylic acid (poly I: C) can induce expression of TSLP in cultured human conjunctival epithelial cells.", "output": {"entities": {"gene": [{"text": "Toll-like receptor 3", "start": 163, "end": 183}], "disease": [{"text": "giant", "start": 75, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "RPS6KB1 and CDC2 overexpression is common in DLBCL.", "output": {"entities": {"gene": [{"text": "CDC2", "start": 12, "end": 16}], "disease": [{"text": "DLBCL", "start": 45, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDC2", "start": 12, "end": 16}, "tail": {"text": "DLBCL", "start": 45, "end": 50}}]}}, "schema": []}
{"input": "56 SD rats were randomly divided into 7 equal groups: CLP group (undergoing cecal ligation and puncture so as to cause septic shock), CLP + ISO-1 group (ISO-1, was injected before and after CLP), CLP + MIF antibody group (MIF-Ab was injected before and after CLP), CLP + dexamethasone (DEX)-1, 5, and 20 groups [I, 5, or 20 mg/kg was injected 1 h after CLP), and sham operation group.", "output": {"entities": {"gene": [{"text": "MIF", "start": 202, "end": 205}], "disease": [{"text": "septic shock", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "LPCAT1 protein was significantly upregulated in primary breast carcinoma and showed a significant ascending pattern being the lowest in normal breast tissues, relatively increased in fibrocystic disease, and the highest in primary carcinoma.", "output": {"entities": {"gene": [{"text": "LPCAT1", "start": 0, "end": 6}], "disease": [{"text": "primary carcinoma", "start": 223, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "We investigated 52 PMD and 28 SPG families without large PLP duplications or deletions by genomic PCR amplification and sequencing of the PLP gene.", "output": {"entities": {"gene": [{"text": "PLP", "start": 57, "end": 60}], "disease": [{"text": "PMD", "start": 19, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLP", "start": 57, "end": 60}, "tail": {"text": "PMD", "start": 19, "end": 22}}]}}, "schema": []}
{"input": "We report a female infant with a karyotype of 46, XX, der (9) t (9; 18) (p22. 2; q21. 32) pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening.", "output": {"entities": {"gene": [{"text": "p22", "start": 73, "end": 76}], "disease": [{"text": "pat", "start": 90, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Unlike other hemophilias, bleeding tendency varies considerably among individuals, and FXI deficiency rarely manifests as spontaneous bleeding.", "output": {"entities": {"gene": [{"text": "FXI", "start": 87, "end": 90}], "disease": [{"text": "bleeding", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The growth regulation of mammary tumor cells controlled by VAPB appears to be mediated, at least in part, by modulation of AKT activity.", "output": {"entities": {"gene": [{"text": "VAPB", "start": 59, "end": 63}], "disease": [{"text": "mammary tumor", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.", "output": {"entities": {"gene": [{"text": "DUOXA1", "start": 199, "end": 205}], "disease": [{"text": "mild", "start": 101, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The prognosis of H. pylori-negative and API2-MALT1 translocation-negative low-grade MALT lymphoma is unknown, and a standard treatment for such lymphoma has yet to be defined.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 45, "end": 50}], "disease": [{"text": "translocation", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Coupling of early response gene expression to distinct regulatory pathways during alpha-interferon and phorbol ester-induced plasmacytoid differentiation of B chronic lymphocytic leukaemia cells.", "output": {"entities": {"gene": [{"text": "early response gene", "start": 12, "end": 31}], "disease": [{"text": "chronic lymphocytic leukaemia", "start": 159, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Our case of growth restriction, premature pubarche and insulin resistance in the absence of body asymmetry or other features of SRS adds to the expanding phenotype of IGF2/H19 methylation abnormalities.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 167, "end": 171}], "disease": [{"text": "insulin resistance", "start": 55, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Finally, tensin is rapidly cleaved by a focal-adhesion protease, calpain II.", "output": {"entities": {"gene": [{"text": "tensin", "start": 9, "end": 15}], "disease": [{"text": "adhesion", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Expression of FHIT in primary cultures of human epithelial ovarian tumors and malignant ovarian ascites.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 14, "end": 18}], "disease": [{"text": "ascites", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We describe new presenting features in patients with GLIS3 mutations, including craniosynostosis, hiatus hernia, atrial septal defect, splenic cyst, and choanal atresia and confirm further cases with sensorineural deafness and exocrine pancreatic insufficiency.", "output": {"entities": {"gene": [{"text": "GLIS3", "start": 53, "end": 58}], "disease": [{"text": "hiatus hernia", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Expression of MCP-1, RANTES, MIP-1 alpha, MIP-1 beta, IP-10 and Mig was demonstrated in all Hashimoto' s and most Graves' thyroid specimens but very little expression was detected in the nonautoimmune goitre samples.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 14, "end": 19}], "disease": [{"text": "goitre", "start": 201, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Enhanced renal vitamin-K-dependent gamma-glutamyl carboxylase activity in experimental rat urolithiasis.", "output": {"entities": {"gene": [{"text": "gamma-glutamyl carboxylase", "start": 35, "end": 61}], "disease": [{"text": "urolithiasis", "start": 91, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gamma-glutamyl carboxylase", "start": 35, "end": 61}, "tail": {"text": "urolithiasis", "start": 91, "end": 103}}]}}, "schema": []}
{"input": "Furthermore, TGF-beta efficiently antagonizes the IL-6 induction of fibrinogen mRNA at late (12-48 h) but not early (6 h) times: this effect is apparently mediated by posttranscriptional mechanism (s).", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 13, "end": 21}], "disease": [{"text": "fibrinogen", "start": 68, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "All studies on imaging techniques for the diagnosis of breast cancer indicated that screening MRI had the highest sensitivity (between 77% and 100%).", "output": {"entities": {"gene": [{"text": "MRI", "start": 94, "end": 97}], "disease": [{"text": "breast cancer", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Other newly identified pathways and components recurrently mutated in ccRCC included PI3K-AKT-mTOR signaling, the KEAP1-NRF2-CUL3 apparatus, DNA methylation, p53-related pathways and mRNA processing.", "output": {"entities": {"gene": [{"text": "KEAP1", "start": 114, "end": 119}], "disease": [{"text": "ccRCC", "start": 70, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KEAP1", "start": 114, "end": 119}, "tail": {"text": "ccRCC", "start": 70, "end": 75}}]}}, "schema": []}
{"input": "PHD3 was upregulated in well-differentiated human tumours and cell lines, and regulated hypoxic VEGF secretion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 96, "end": 100}], "disease": [{"text": "hypoxic", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We show that FK866 induces a translational arrest in leukemia cells through inhibition of MTOR/4EBP1 signaling and of the initiation factors EIF4E and EIF2A.", "output": {"entities": {"gene": [{"text": "EIF2A", "start": 151, "end": 156}], "disease": [{"text": "leukemia", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Using a multivariate model we observed that the increase (10%) of genomic DNA methylation in patients with alcoholism was significantly associated with their lowered DNMT-3b mRNA expression (multiple linear regression, p = 0. 014).", "output": {"entities": {"gene": [{"text": "DNMT", "start": 166, "end": 170}], "disease": [{"text": "alcoholism", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The liver expression of mRNA of VEGF-165, VEGF-189 and KDR was higher in HCC than in chronic liver diseases (1. 54 +/-0. 89 vs 0. 62 +/-0. 47, P < 0. 0001; 1. 09 +/-0. 65 vs 0. 64 +/-0. 54, P = 0. 003; 1. 30 +/-1. 09 vs 0. 69 +/-0. 72, P = 0. 014).", "output": {"entities": {"gene": [{"text": "HCC", "start": 73, "end": 76}], "disease": [{"text": "liver diseases", "start": 93, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Although the first three mechanisms do not appear to be relevant, regression of myeloid suppressor cells in Stat6-deficient and CD1-deficient mice may be responsible for enhanced immunosurveillance.", "output": {"entities": {"gene": [{"text": "CD1", "start": 128, "end": 131}], "disease": [{"text": "regression", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "None of the 10 RIBA-2-nonreactive donors had evidence of viremia.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 15, "end": 19}], "disease": [{"text": "viremia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The C46T polymorphism of the coagulation factor XII gene and idiopathic recurrent miscarriage.", "output": {"entities": {"gene": [{"text": "coagulation factor XII", "start": 29, "end": 51}], "disease": [{"text": "recurrent miscarriage", "start": 72, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "NAGLU mutations underlying Sanfilippo syndrome type B.", "output": {"entities": {"gene": [{"text": "NAGLU", "start": 0, "end": 5}], "disease": [{"text": "Sanfilippo syndrome type B", "start": 27, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NAGLU", "start": 0, "end": 5}, "tail": {"text": "Sanfilippo syndrome type B", "start": 27, "end": 53}}]}}, "schema": []}
{"input": "This study found a correlation between some serum markers [AST/ALT ratio, level of matrix metalloproteinase 9 (MMP9), level of viraemia and HCV serotype] and severity of liver fibrosis in HCV-infected patients.", "output": {"entities": {"gene": [{"text": "MMP9", "start": 111, "end": 115}], "disease": [{"text": "viraemia", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Pharmacological inhibition of JAK2 attenuated liver fibrosis in rodent fibrosis models.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 30, "end": 34}], "disease": [{"text": "fibrosis", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "HLA-E * 0101, HLA-E * 01032 and HLA-E * 01031 were detected with frequencies of 56. 7%, 33. 6% and 9. 6% in controls and 58, 5%, 32. 9% and 8. 5% in patients with recurrent abortion, respectively.", "output": {"entities": {"gene": [{"text": "HLA-E", "start": 0, "end": 5}], "disease": [{"text": "recurrent abortion", "start": 163, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "The mean PH and GGT activities of the keloid fibroblasts were not elevated, but PH activity in 2 cell lines and GGT activity in 1 cell line were higher than the mean + 2 SD for the controls.", "output": {"entities": {"gene": [{"text": "GGT", "start": 16, "end": 19}], "disease": [{"text": "keloid", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Expression of mda-5 by means of a replication incompetent adenovirus, Ad. mda-5, induces apoptosis in HO-1 cells as confirmed by morphologic, biochemical and molecular assays.", "output": {"entities": {"gene": [{"text": "mda-5", "start": 14, "end": 19}], "disease": [{"text": "adenovirus", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Glucocorticoid receptor-interacting protein 1 (GRIP1), a p160 family nuclear receptor co-activator protein, has three activation domains that recruit at least three secondary co-activators: CBP/p300, co-activator-associated arginine methyltransferase 1, and coiled-coil co-activator, which exhibits histone acetyltransferase and/or arginine methyltransferase activities.", "output": {"entities": {"gene": [{"text": "methyltransferase 1", "start": 233, "end": 252}], "disease": [{"text": "secondary", "start": 165, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "KCN1 also downregulated transcription of endogenous HIF-1 target genes, such as VEGF, Glut-1, and carbonic anhydrase 9, in a hypoxia-responsive element (HRE)-dependent manner.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 80, "end": 84}], "disease": [{"text": "hypoxia", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We screened 184 familial (FALS) and 200 sporadic German patients with ALS for FUS/TLS mutations by sequence analysis of exons 5, 6 and 13-15.", "output": {"entities": {"gene": [{"text": "TLS", "start": 82, "end": 85}], "disease": [{"text": "sporadic", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Oncogene AEG-1 promotes glioma-induced neurodegeneration by increasing glutamate excitotoxicity.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 9, "end": 14}], "disease": [{"text": "neurodegeneration", "start": 39, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In contrast, HIF activation downstream of hypoxia/DMOG drives expression of genes such as ANGPTL4, EFNA3, TGFβ1 and VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 116, "end": 120}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of these genes was significantly associated to a poor response to treatment (P =. 0001 and P =. 0049, respectively), tumor progression, and worse overall survival (P =. 0052 and P =. 0085, respectively), suggesting that MAPK7 and MAP2K4 could play an important role in osteosarcoma tumorigenesis.", "output": {"entities": {"gene": [{"text": "MAPK7", "start": 235, "end": 240}], "disease": [{"text": "tumorigenesis", "start": 297, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "Functionally, TCF21 binds the promoter of the melanoma metastasis-suppressing gene, KiSS1, and enhances its gene expression through interaction with E12, a TCF3 isoform and with TCF12.", "output": {"entities": {"gene": [{"text": "TCF12", "start": 178, "end": 183}], "disease": [{"text": "melanoma", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The androgen receptor gene StuI restriction site was found in all but one (98. 1%) of the 54 young bald men (p = 0. 0005) and in 92. 3% of older balding men (p = 0. 000004) but in only 76. 6% of nonbald men.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 4, "end": 26}], "disease": [{"text": "balding", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Here we report a case of TRAPS with a novel TNFRSF1A mutation, C70S, in a Japanese family.", "output": {"entities": {"gene": [{"text": "TNFRSF1A", "start": 44, "end": 52}], "disease": [{"text": "TRAPS", "start": 25, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFRSF1A", "start": 44, "end": 52}, "tail": {"text": "TRAPS", "start": 25, "end": 30}}]}}, "schema": []}
{"input": "Genome-wide association studies have also revealed SRGAP3, together with genes from the same cellular network, as risk genes for schizophrenia.", "output": {"entities": {"gene": [{"text": "SRGAP3", "start": 51, "end": 57}], "disease": [{"text": "schizophrenia", "start": 129, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRGAP3", "start": 51, "end": 57}, "tail": {"text": "schizophrenia", "start": 129, "end": 142}}]}}, "schema": []}
{"input": "As a result of the translocation, they are expressed as fusion genes either with AML1 or with TEL.", "output": {"entities": {"gene": [{"text": "AML1", "start": 81, "end": 85}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We describe the phenotypic range of GCD2 heterozygotes for the common R124H mutation in TGFBI; seven with an extremely mild phenotype and six with an extremely severe phenotype.", "output": {"entities": {"gene": [{"text": "TGFBI", "start": 88, "end": 93}], "disease": [{"text": "GCD2", "start": 36, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBI", "start": 88, "end": 93}, "tail": {"text": "GCD2", "start": 36, "end": 40}}]}}, "schema": []}
{"input": "Variants at three of these loci have previously been linked with important clinical outcomes: SLC7A9 is a risk locus for chronic kidney disease, NAT2 for coronary artery disease and genotype-dependent response to drug toxicity, and SLC6A20 for iminoglycinuria.", "output": {"entities": {"gene": [{"text": "SLC6A20", "start": 232, "end": 239}], "disease": [{"text": "iminoglycinuria", "start": 244, "end": 259}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC6A20", "start": 232, "end": 239}, "tail": {"text": "iminoglycinuria", "start": 244, "end": 259}}]}}, "schema": []}
{"input": "Each lymphoma with TCR delta gene rearrangement had an aberrant T-cell immunophenotype and three cases were of the large cell anaplastic type.", "output": {"entities": {"gene": [{"text": "TCR delta gene", "start": 19, "end": 33}], "disease": [{"text": "lymphoma", "start": 5, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "To study whether the immune system is involved in the pathogenesis of CMTX1 patients and asymptomatic carriers, we measured serum concentrations of antibodies to peripheral nerve myelin protein 22 (PMP22), interleukin-6 (IL-6) and tumour necrosis factor alpha (TNF-alpha) by ELISA.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 221, "end": 225}], "disease": [{"text": "asymptomatic", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "As impaired NMDA receptor activity may be the result of a primary defect in the NMDA receptors themselves, or secondary to dysfunction in the protein complexes that mediate their signaling, we measured expression of both NMDA subunits and associated postsynaptic density (PSD) proteins (PSD95, neurofilament-light (NF-L), and SAP102) transcripts in the dorsolateral prefrontal cortex in subjects with schizophrenia, bipolar disorder, major depression, and a comparison group using tissue from the Stanley Foundation Neuropathology Consortium.", "output": {"entities": {"gene": [{"text": "SAP102", "start": 326, "end": 332}], "disease": [{"text": "major depression", "start": 434, "end": 450}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SAP102", "start": 326, "end": 332}, "tail": {"text": "major depression", "start": 434, "end": 450}}]}}, "schema": []}
{"input": "In this article, we give an overview of the mechanisms by which this deficit of SST participates in the main pathogenic mechanisms involved in diabetic retinopathy (DR): neurodegeneration, neovascularization, and vascular leakage.", "output": {"entities": {"gene": [{"text": "SST", "start": 80, "end": 83}], "disease": [{"text": "neovascularization", "start": 189, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Forty-nine high-risk AA received 200 mg/d troglitazone (TRO) versus 81 age-, weight-, and body mass index (BMI)-matched high-risk AA who received placebo (PLA) for 24 months.", "output": {"entities": {"gene": [{"text": "TRO", "start": 56, "end": 59}], "disease": [{"text": "body mass index", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Together, our results indicate that STAT3 plays a crucial role in esophageal carcinogenesis by regulating the cell proliferation and apoptosis in conjunction with Oct-1.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 36, "end": 41}], "disease": [{"text": "esophageal", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The percentage of platelet aggregation was lower in the stroke patient at every time point when induced by 5 micromol/L of ADP, by 10 micromol/L of ADP, and by thrombin than in the rest of the AMI group.", "output": {"entities": {"gene": [{"text": "ADP", "start": 123, "end": 126}], "disease": [{"text": "stroke", "start": 56, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The impact of smoking, ALDH2 genotype, and their interaction on lung cancer risk were assessed by odds ratio (OR) and 95% confidence interval adjusted for potential confounders.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 23, "end": 28}], "disease": [{"text": "smoking", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "He had a mild thalassemia intermedia phenotype and was transfusion independent with a hemoglobin (Hb) level of 9. 4 g/dl, mean corpuscular volume (MCV) of 55. 2 fl, and mean corpuscular hemoglobin (MCH) of 17. 5 pg.", "output": {"entities": {"gene": [{"text": "MCH", "start": 198, "end": 201}], "disease": [{"text": "mean corpuscular volume", "start": 122, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Notably, miR-532-5p regulated the nuclear expression of & #946;-catenin and activation of Wnt/& #946;-catenin signaling in bladder cancer cells.", "output": {"entities": {"gene": [{"text": "miR-532", "start": 9, "end": 16}], "disease": [{"text": "bladder cancer", "start": 123, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-532", "start": 9, "end": 16}, "tail": {"text": "bladder cancer", "start": 123, "end": 137}}]}}, "schema": []}
{"input": "Here, we delineate a unique mechanism by which tTG contributes to the development of gliomas by using two glioblastoma cell lines, U87 and LN229, whose growth and survival are dependent on tTG.", "output": {"entities": {"gene": [{"text": "U87", "start": 131, "end": 134}], "disease": [{"text": "gliomas", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Using histological staining including Martius Scarlet Blue (MSB) and Haematoxylin and Eosin (H & E) and microscopy, we studied placental fibrin deposition and histological abnormalities in subjects (n = 23) with APCR (APCR group), based on a ratio of less than or equal to 2. 1s with the Coatest classic test and subjects (n = 11) with an APC ratio in the normal range, greater than 2. 1s (APCN group).", "output": {"entities": {"gene": [{"text": "APCN", "start": 390, "end": 394}], "disease": [{"text": "abnormalities", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Moreover, FLCN knockdown induced GPNMB expression in FLCN-restored renal cancer cells.", "output": {"entities": {"gene": [{"text": "GPNMB", "start": 33, "end": 38}], "disease": [{"text": "renal cancer", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "This model may be extended to other genes where collaboration between TGF-beta and hypoxia takes place.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 70, "end": 78}], "disease": [{"text": "hypoxia", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Novel KRT83 and KRT86 mutations associated with monilethrix.", "output": {"entities": {"gene": [{"text": "KRT83", "start": 6, "end": 11}], "disease": [{"text": "monilethrix", "start": 48, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT83", "start": 6, "end": 11}, "tail": {"text": "monilethrix", "start": 48, "end": 59}}]}}, "schema": []}
{"input": "Up-to-date treatment of acute myocardial infarction (AIM) has been based on as early as possible establishment of circulation in ischemic myocardium whether by the use of fibrinolythic therapy and/or urgent coronary intervention which significantly changes the destiny of patients with AMI, but also increases the risk of bleeding.", "output": {"entities": {"gene": [{"text": "AIM", "start": 53, "end": 56}], "disease": [{"text": "acute myocardial infarction", "start": 24, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "To investigate the feasibility of NBS for Pompe disease in Japan, we obtained dried blood spots (DBSs) from 496 healthy Japanese controls, 29 Japanese patients with Pompe disease, and five obligate carriers, and assayed GAA activity under the following conditions: (1) total GAA measured at pH 3. 8, (2) GAA measured at pH 3. 8 in the presence of acarbose, and (3) neutral glucosidase activity (NAG) measured at pH 7. 0 without acarbose.", "output": {"entities": {"gene": [{"text": "GAA", "start": 220, "end": 223}], "disease": [{"text": "Pompe disease", "start": 42, "end": 55}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GAA", "start": 220, "end": 223}, "tail": {"text": "Pompe disease", "start": 42, "end": 55}}]}}, "schema": []}
{"input": "SIRT1 expression was gradually decreased during the normal-adenoma-adenocarcinoma-metastasis sequence, suggesting a possible role of SIRT1 in tumour suppression in the colorectum, and a probable link to the microsatellite instability pathway.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 0, "end": 5}], "disease": [{"text": "microsatellite instability", "start": 207, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Despite being cultured in normal (5. 5 mM) glucose for 7 days, EOCs from diabetic rats expressed less SIRT1 mRNA, induced less endothelial tube formation in vitro and neovascularization in vivo, and secreted less of the proangiogenic ELR (+) CXC chemokines CXCL1, CXCL3, and CXCL5.", "output": {"entities": {"gene": [{"text": "CXCL1", "start": 257, "end": 262}], "disease": [{"text": "neovascularization", "start": 167, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Because corresponding human syntenic regions are on different chromosomes, investigation of ATP1A1 (chromosome [chr]-1p21) and Dear (chr-4q31. 3) facilitates genetic analyses of each blood pressure quantitative trait locus in human hypertension.", "output": {"entities": {"gene": [{"text": "ATP1A1", "start": 92, "end": 98}], "disease": [{"text": "blood pressure", "start": 183, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.", "output": {"entities": {"gene": [{"text": "ABC1", "start": 20, "end": 24}], "disease": [{"text": "Tangier disease", "start": 119, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABC1", "start": 20, "end": 24}, "tail": {"text": "Tangier disease", "start": 119, "end": 134}}]}}, "schema": []}
{"input": "The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).", "output": {"entities": {"gene": [{"text": "alsin", "start": 39, "end": 44}], "disease": [{"text": "neuron degeneration", "start": 81, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Tumors examined by Northern blot revealed M68 mRNA highly elevated in a similar fraction of primary tumors from the same gastrointestinal tract regions, as well as in the colon adenocarcinoma cell lines SW480 and SW1116.", "output": {"entities": {"gene": [{"text": "M68", "start": 42, "end": 45}], "disease": [{"text": "colon adenocarcinoma", "start": 171, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Patients who were double homozygotes had SNHL accompanied by early-onset and severe RP, while patients who were homozygous for the CEP250 mutation and carried a single mutant C2orf71 allele had SNHL with mild retinal degeneration.", "output": {"entities": {"gene": [{"text": "CEP250", "start": 131, "end": 137}], "disease": [{"text": "mild", "start": 204, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Since the identification of phosphorylated and truncated transactive response DNA-binding protein 43 (TDP-43) as a primary component of ubiquitinated inclusions in amyotrophic lateral sclerosis and frontotemporal lobar degeneration with ubiquitin-positive inclusions, much effort has been directed towards ascertaining how TDP-43 contributes to the pathogenesis of disease.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 78, "end": 97}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 164, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Its role in the control of respiration has been highlighted by the identification of heterozygous PHOX2B mutations as the cause of Central Congenital Hypoventilation Syndrome (CCHS), a rare disease defined by the lack of CO (2) responsiveness and of breathing automaticity in sleep.", "output": {"entities": {"gene": [{"text": "PHOX2B", "start": 98, "end": 104}], "disease": [{"text": "breathing", "start": 250, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Collectively, identification of mutations in the MRP6 gene provides the basis to examine the pathomechanisms of PXE and allows development of DNA-based carrier detection, prenatal testing, and preimplantation genetic diagnosis in families with a history of this disease.", "output": {"entities": {"gene": [{"text": "MRP6", "start": 49, "end": 53}], "disease": [{"text": "PXE", "start": 112, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MRP6", "start": 49, "end": 53}, "tail": {"text": "PXE", "start": 112, "end": 115}}]}}, "schema": []}
{"input": "Strong associations of low serum IGF-I with blood pressure and arterial stiffness in young Africans suggest that the loss of cardiometabolic protection by IGF-I could predispose them to earlier disease onset.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 33, "end": 38}], "disease": [{"text": "arterial stiffness", "start": 63, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We extended that work to investigate other SNP in the EGF gene for their association with pre-eclampsia and the weight of babies at birth.", "output": {"entities": {"gene": [{"text": "EGF gene", "start": 54, "end": 62}], "disease": [{"text": "weight", "start": 112, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "This suggests that acid induced oesophagitis may act through VR-1 and that inhibition of the receptor may reduce inflammation.", "output": {"entities": {"gene": [{"text": "VR-1", "start": 61, "end": 65}], "disease": [{"text": "oesophagitis", "start": 32, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VR-1", "start": 61, "end": 65}, "tail": {"text": "oesophagitis", "start": 32, "end": 44}}]}}, "schema": []}
{"input": "Acute exposure to dexamethasone and hydrocortisone resulted in abnormal zebra fish development including craniofacial abnormalities, altered somitogenesis, blood pooling and pericardial and yolk sac edema as well as increased MMP-13 mRNA and activity at 72 hpf.", "output": {"entities": {"gene": [{"text": "MMP-13", "start": 226, "end": 232}], "disease": [{"text": "craniofacial abnormalities", "start": 105, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-13", "start": 226, "end": 232}, "tail": {"text": "craniofacial abnormalities", "start": 105, "end": 131}}]}}, "schema": []}
{"input": "Anti-TSLP, anti-dendritic cell-limbic system-associated membrane protein (anti-DC-LAMP), and anti-tryptase immunohistochemical staining was performed with 10 resected giant papillae.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 5, "end": 9}], "disease": [{"text": "giant", "start": 167, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Mosaicism for HRAS c. 37G & gt; C and KRAS c. 35G & gt; A mutations was found in two individuals with Schimmelpenning syndrome.", "output": {"entities": {"gene": [{"text": "KRAS", "start": 38, "end": 42}], "disease": [{"text": "Schimmelpenning syndrome", "start": 102, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRAS", "start": 38, "end": 42}, "tail": {"text": "Schimmelpenning syndrome", "start": 102, "end": 126}}]}}, "schema": []}
{"input": "In a smaller number of cases this expression of bcl-2 could be explained by the presence of the translocation t (14; 18).", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 48, "end": 53}], "disease": [{"text": "translocation", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We evaluate whether AAV-mediated gene replacement therapy is able to improve photoreceptor function and survival in retinal degeneration associated with AIPL1 defects.", "output": {"entities": {"gene": [{"text": "AAV", "start": 20, "end": 23}], "disease": [{"text": "retinal degeneration", "start": 116, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "High resolution genomic analysis (Affymetrix Human Genome Wide SNP 6. 0) revealed a 7q36. 3 deletion encompassing NCAPG2, ESYT2, WDR60 and VIPR2, inherited from his asymptomatic father and paternal grandfather.", "output": {"entities": {"gene": [{"text": "VIPR2", "start": 139, "end": 144}], "disease": [{"text": "asymptomatic", "start": 165, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The occurrence of PPH and the abnormal hemoglobin could be due to genetic or biochemical factors or simply coincidental.", "output": {"entities": {"gene": [{"text": "PPH", "start": 18, "end": 21}], "disease": [{"text": "abnormal hemoglobin", "start": 30, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The expression of c-Jun protein and c-jun mRNA was significantly increased in the cerebellar vermis of patients with schizophrenia, whereas no significant differences were found in the expression of Jun B or Jun D proteins.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 18, "end": 23}], "disease": [{"text": "schizophrenia", "start": 117, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "c-Jun", "start": 18, "end": 23}, "tail": {"text": "schizophrenia", "start": 117, "end": 130}}]}}, "schema": []}
{"input": "These findings further substantiate the role that mutations in PCFT play in the pathogenesis of HFM and will make possible rapid diagnosis and treatment of this disorder in infants, and prenatal diagnosis in families that carry a mutated gene.", "output": {"entities": {"gene": [{"text": "PCFT", "start": 63, "end": 67}], "disease": [{"text": "HFM", "start": 96, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCFT", "start": 63, "end": 67}, "tail": {"text": "HFM", "start": 96, "end": 99}}]}}, "schema": []}
{"input": "We wanted to evaluate the association between LEPR polymorphisms, diabetes risk and body weight in Finnish subjects with impaired glucose tolerance (IGT).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 46, "end": 50}], "disease": [{"text": "body weight", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Under basal conditions, neuroblastoma cells secrete IGFs (essentially IGF-II), IGFBPs (IGFBP-4 and predominantly IGFBP-2 that is partially proteolysed), and proteases, including tissue-type plasminogen (PLG) activator, whose activity is inhibited by PLG activator inhibitor-1.", "output": {"entities": {"gene": [{"text": "PLG", "start": 203, "end": 206}], "disease": [{"text": "neuroblastoma", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Induction of cyclooxygenase-1 in cultured synovial cells isolated from rheumatoid arthritis patients.", "output": {"entities": {"gene": [{"text": "cyclooxygenase-1", "start": 13, "end": 29}], "disease": [{"text": "rheumatoid arthritis", "start": 71, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cyclooxygenase-1", "start": 13, "end": 29}, "tail": {"text": "rheumatoid arthritis", "start": 71, "end": 91}}]}}, "schema": []}
{"input": "WEE1 kinase is a potential therapeutic drug target for HNSCC.", "output": {"entities": {"gene": [{"text": "WEE1", "start": 0, "end": 4}], "disease": [{"text": "HNSCC", "start": 55, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WEE1", "start": 0, "end": 4}, "tail": {"text": "HNSCC", "start": 55, "end": 60}}]}}, "schema": []}
{"input": "Similar analyses for the paediatric group revealed, in distinct contrast to the adult patients, no significant abnormalities of CD45R expression suggesting that these defects may not become apparent until a later age.", "output": {"entities": {"gene": [{"text": "CD45R", "start": 128, "end": 133}], "disease": [{"text": "abnormalities", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that loss of TMTC3 causes COB with minimal eye or muscle involvement.", "output": {"entities": {"gene": [{"text": "TMTC3", "start": 30, "end": 35}], "disease": [{"text": "COB", "start": 43, "end": 46}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TMTC3", "start": 30, "end": 35}, "tail": {"text": "COB", "start": 43, "end": 46}}]}}, "schema": []}
{"input": "The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD.", "output": {"entities": {"gene": [{"text": "KRT12", "start": 32, "end": 37}], "disease": [{"text": "MECD", "start": 95, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT12", "start": 32, "end": 37}, "tail": {"text": "MECD", "start": 95, "end": 99}}]}}, "schema": []}
{"input": "Our analysis identified several novel dysregulated genes and miRNAs in ASD compared with controls, including HEY1, SOX9, miR-486 and miR-181b.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 115, "end": 119}], "disease": [{"text": "ASD", "start": 71, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOX9", "start": 115, "end": 119}, "tail": {"text": "ASD", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "CD34 + cells were obtained from human umbilical cord blood, retrovirally transduced with human beta-glucuronidase (HBG) gene, and transplanted into nonobese diabetic/severe combined immunodeficiency (NOD/SCID) mice.", "output": {"entities": {"gene": [{"text": "beta-glucuronidase", "start": 95, "end": 113}], "disease": [{"text": "severe combined immunodeficiency", "start": 166, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "The calculated sensitivity and specificity for diagnosing elevated bone resorption, as determined by a DPD value higher than 7. 6 nM/mM Cr, were 61% and 92%, respectively, when a cut-off value of 40 IU/g Cr was assigned for urinary GGT.", "output": {"entities": {"gene": [{"text": "GGT", "start": 232, "end": 235}], "disease": [{"text": "bone resorption", "start": 67, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We show further that ERβ attenuated the hypoxic induction of VEGF mRNA by directly decreasing HIF-1α binding to the VEGF gene promoter.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 61, "end": 65}], "disease": [{"text": "hypoxic", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.", "output": {"entities": {"gene": [{"text": "GINS1", "start": 10, "end": 15}], "disease": [{"text": "NK cell deficiency", "start": 83, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GINS1", "start": 10, "end": 15}, "tail": {"text": "NK cell deficiency", "start": 83, "end": 101}}]}}, "schema": []}
{"input": "The secretion of VEGF but not bFGF is up-regulated by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Thus, DEFA5, DEFA6, MMP7, IL8 and SPP1 consist in a valuable panel of biomarkers, whose detection can be used in early detection and progressive disease and also in prognostic of colon cancer.", "output": {"entities": {"gene": [{"text": "DEFA5", "start": 6, "end": 11}], "disease": [{"text": "colon cancer", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), including chronic myelomonocytic leukemia, atypical chronic myeloid leukemia, MDS/MPN-Unclassifiable, ring sideroblasts associated with marked thrombocytosis, and juvenile myelomonocytic leukemia, are clonal hematologic diseases characterized by myeloid dysplasia, proliferation, and absence of the molecular lesions BCR/ABL, PDGFRA, PDGFRB, and FGFR1.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 383, "end": 389}], "disease": [{"text": "thrombocytosis", "start": 200, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the mRNA expression levels of HIF-1 (α and β) and its target genes (VEGF, GLUT1, PGK1, PFKFB3, and LDHA) in the peripheral white blood cells of patients with major depressive disorder (MDD) and bipolar disorder (BPD).", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 68, "end": 73}], "disease": [{"text": "bipolar disorder", "start": 232, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to examine the methylation status of Reprimo in a broad range of cancers.", "output": {"entities": {"gene": [{"text": "Reprimo", "start": 49, "end": 56}], "disease": [{"text": "cancers", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Misfolding of Notch3 is linked to endoplasmic reticulum stress and increased reactive oxygen species, which may result in dysfunction of endothelial cells, inflammation and ischemia.", "output": {"entities": {"gene": [{"text": "Notch3", "start": 14, "end": 20}], "disease": [{"text": "inflammation", "start": 156, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In vitro, APOBEC3B expression was predominantly induced by treatment with a DNA-damaging drug in bladder cancer cell lines, and APOBEC3A expression was induced as part of the antiviral interferon-stimulated response in breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "APOBEC3B", "start": 10, "end": 18}], "disease": [{"text": "bladder cancer", "start": 97, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOBEC3B", "start": 10, "end": 18}, "tail": {"text": "bladder cancer", "start": 97, "end": 111}}]}}, "schema": []}
{"input": "Eighteen BMPR2 mutation carriers and 7 ALK1 mutation carriers were detected in the 54 patients with childhood IPAH or HPAH.", "output": {"entities": {"gene": [{"text": "ALK1", "start": 39, "end": 43}], "disease": [{"text": "HPAH", "start": 118, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALK1", "start": 39, "end": 43}, "tail": {"text": "HPAH", "start": 118, "end": 122}}]}}, "schema": []}
{"input": "The translocation was accompanied by a deletion of MALT1 sequences distal to the breakpoint including the caspase-like domain, which is essential for activation of NF-kappaB.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 51, "end": 56}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "EXPERIMENTAL DESIGN: We used fluorescent in situ hybridization and in situ hybridization to evaluate CSF1 translocation and mRNA expression in six malignant D-TSGCTs, which were further immunohistochemically compared with 24 benign cases for cell cycle regulators involving G (1) phase and G (1)-S transition.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 101, "end": 105}], "disease": [{"text": "translocation", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Mutations in matrilin-3 are associated with common skeletal diseases, such as hand osteoarthritis (HOA), as well as rare chondrodysplasias, such as multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD).", "output": {"entities": {"gene": [{"text": "SEMD", "start": 222, "end": 226}], "disease": [{"text": "multiple epiphyseal dysplasia", "start": 148, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Metadherin (MTDH) plays functional roles in the tumorigenesis and tumor progression of various cancers.", "output": {"entities": {"gene": [{"text": "MTDH", "start": 12, "end": 16}], "disease": [{"text": "tumorigenesis", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In subjects with mild chronic atrophic gastritis, the frequencies of the variant (less common) alleles of CYP2E1 RsaI, CYP2E1 DraI, GSTP1, ALDH2, and ODC were, respectively, 0. 156, 0. 201, 0. 189, 0. 190, and 0. 428.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 132, "end": 137}], "disease": [{"text": "mild", "start": 17, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "We have found no evidence for an association between polymorphism of the ACE or AT1R genes and microalbuminuria in two groups of subjects without insulin-dependent diabetes.", "output": {"entities": {"gene": [{"text": "ACE", "start": 73, "end": 76}], "disease": [{"text": "microalbuminuria", "start": 95, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Respiratory parameters [maximum vital capacity (VCmax); forced expiratory volume (FEV1); peak expiratory flow (PEF), postural drop of VCmax from sitting to supine, maximum inspiratory muscle pressure (PImax), mouth occlusion pressure after 100 ms (P 0. 1), peak cough flow, and blood-gas analysis] were monitored prospectively at baseline, and then 6 months and 12 months later in 8 patients with genetically confirmed MATR3 myopathy.", "output": {"entities": {"gene": [{"text": "MATR3", "start": 419, "end": 424}], "disease": [{"text": "vital capacity", "start": 32, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "IL-13 and IL-4R may play an important role in the etiology of RCC.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 0, "end": 5}], "disease": [{"text": "RCC", "start": 62, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-13", "start": 0, "end": 5}, "tail": {"text": "RCC", "start": 62, "end": 65}}]}}, "schema": []}
{"input": "Deficiency of surface expressions of GPI-anchored complement inhibitors leads to complement-mediated hemolysis.", "output": {"entities": {"gene": [{"text": "GPI", "start": 37, "end": 40}], "disease": [{"text": "hemolysis", "start": 101, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Cancer-associated splicing variant of tumor suppressor AIMP2/p38: pathological implication in tumorigenesis.", "output": {"entities": {"gene": [{"text": "p38", "start": 61, "end": 64}], "disease": [{"text": "tumorigenesis", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated significant interactions between active smoking and polymorphisms in 17q12-21 with asthma, lung function, and AHR in adults.", "output": {"entities": {"gene": [{"text": "AHR", "start": 126, "end": 129}], "disease": [{"text": "smoking", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, autosomal abnormalities have been identified in POF patients such as mutations of the FSH gene, the LH and FSH receptor genes, chromosome 3q containing the blepharophimosis gene, the ATM gene (Ataxia-telangiectasia gene).", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 126, "end": 138}], "disease": [{"text": "abnormalities", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "T (8; 21) AML1 (CBFA2)-ETO (MTG8) is the most common chromosomal translocation in acute myeloid leukemia (AML) in both children and adults.", "output": {"entities": {"gene": [{"text": "CBFA2", "start": 16, "end": 21}], "disease": [{"text": "chromosomal translocation", "start": 53, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the critical chromatin modifier ATRX and mutations in CIC and FUBP1, which are potent regulators of cell growth, have been discovered in specific subtypes of gliomas, the most common type of primary malignant brain tumors.", "output": {"entities": {"gene": [{"text": "CIC", "start": 67, "end": 70}], "disease": [{"text": "primary malignant brain tumors", "start": 204, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Primary skin fibroblasts from seven PBD-ZSD patients with biallelic PEX1, PEX10, PEX12, or PEX26 mutations and three healthy donors were transduced with retroviral vectors expressing Yamanaka reprogramming factors.", "output": {"entities": {"gene": [{"text": "PEX10", "start": 74, "end": 79}], "disease": [{"text": "PBD-ZSD", "start": 36, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PEX10", "start": 74, "end": 79}, "tail": {"text": "PBD-ZSD", "start": 36, "end": 43}}]}}, "schema": []}
{"input": "These data suggests that the presence of any of the main NOD2 variants in CD is associated with osteoporosis and an age of onset dependent influence towards underweight, higher disease activity and a more intensive immunosuppressive therapy.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 57, "end": 61}], "disease": [{"text": "underweight", "start": 157, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In total, 22 PGD cycles with duplex PCR (IVS8CA/IVS17BTA, DeltaF508/IVS8CA, DeltaF508/IVS17BTA and D7S486/D7S490) were carried out in 16 couples, which resulted in four ongoing pregnancies and one miscarriage.", "output": {"entities": {"gene": [{"text": "D7S486", "start": 99, "end": 105}], "disease": [{"text": "miscarriage", "start": 197, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Since autism is hypothesized to be a hypoglutamatergic disorder we investigated the in vivo effects of secretin on extracellular amino acids in the rat brain.", "output": {"entities": {"gene": [{"text": "secretin", "start": 103, "end": 111}], "disease": [{"text": "autism", "start": 6, "end": 12}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "secretin", "start": 103, "end": 111}, "tail": {"text": "autism", "start": 6, "end": 12}}]}}, "schema": []}
{"input": "Generally considered as a tumor-suppressor gene, Dab2 may actually promote tumor progression in advanced cancers through epithelial-to-mesenchymal transition (EMT).", "output": {"entities": {"gene": [{"text": "EMT", "start": 159, "end": 162}], "disease": [{"text": "tumor progression", "start": 75, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Measuring the expression levels of IFN receptors, and their ability to be up-regulated, may be a promising method for selecting HCC patients for this type of combination therapy.", "output": {"entities": {"gene": [{"text": "IFN", "start": 35, "end": 38}], "disease": [{"text": "HCC", "start": 128, "end": 131}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IFN", "start": 35, "end": 38}, "tail": {"text": "HCC", "start": 128, "end": 131}}]}}, "schema": []}
{"input": "Here we show that lithium, a pharmacological agent used for the management of psychiatric disorders such as bipolar disorder, schizophrenia, and depression, regulates Akt/glycogen synthase kinase 3 (GSK3) signaling and related behaviors in mice by disrupting a signaling complex composed of Akt, beta-arrestin 2, and protein phosphatase 2A.", "output": {"entities": {"gene": [{"text": "beta-arrestin 2", "start": 296, "end": 311}], "disease": [{"text": "depression", "start": 145, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-arrestin 2", "start": 296, "end": 311}, "tail": {"text": "depression", "start": 145, "end": 155}}]}}, "schema": []}
{"input": "Mutations were analyzed for their haematological parameters which include total red blood cell count (TRBC), haemoglobin (Hb), mean cell volume (MCV), mean cell haemoglobin (MCH) and red cell distribution width (RDW).", "output": {"entities": {"gene": [{"text": "MCH", "start": 174, "end": 177}], "disease": [{"text": "mean cell volume", "start": 127, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Targeted genotyping revealed BRAF p. Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors).", "output": {"entities": {"gene": [{"text": "CTNNB1", "start": 120, "end": 126}], "disease": [{"text": "craniopharyngiomas", "start": 67, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTNNB1", "start": 120, "end": 126}, "tail": {"text": "craniopharyngiomas", "start": 67, "end": 85}}]}}, "schema": []}
{"input": "The unweighted GRS containing coronary artery calcified plaque (CAC) SNPs was nominally associated with history of prior CVD (p = 0. 033; OR = 1. 09).", "output": {"entities": {"gene": [{"text": "CAC", "start": 64, "end": 67}], "disease": [{"text": "plaque", "start": 56, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Serum starvation and refeeding assay indicated that EBP1 was accumulated in growth-arrested HCC cells, and was progressively decreased when cells entered into S phase.", "output": {"entities": {"gene": [{"text": "HCC", "start": 92, "end": 95}], "disease": [{"text": "starvation", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "We report here that mice bearing a disruption in the NF-ATc gene fail to develop normal cardiac valves and septa and die of circulatory failure before day 14. 5 of development.", "output": {"entities": {"gene": [{"text": "NF-ATc", "start": 53, "end": 59}], "disease": [{"text": "circulatory failure", "start": 124, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "IFNG, IFNGR1 and IFNGR2 expression was analysed using qRT-PCR profiling in the inflammatory granulation tissue and atheroma.", "output": {"entities": {"gene": [{"text": "IFNG", "start": 0, "end": 4}], "disease": [{"text": "atheroma", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Sequence analysis revealed that one of these antigens, HOM-MEL-40, was coded for by the SSX2 gene, which has recently been described to be involved in the t (X; 18) translocation of human synovial sarcomas.", "output": {"entities": {"gene": [{"text": "SSX2 gene", "start": 88, "end": 97}], "disease": [{"text": "translocation", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We consider that MYC rearrangement, loss of one p53 allele as well as other factors, such as more prolymphocytes in the blood and bone marrow and complex chromosome abnormalities, also had adverse effects on the poorer prognosis of case 2.", "output": {"entities": {"gene": [{"text": "MYC", "start": 17, "end": 20}], "disease": [{"text": "chromosome abnormalities", "start": 154, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to characterize MTX-LPD in comparison to non-MTX-LPD and sporadic LPD in patients with RA.", "output": {"entities": {"gene": [{"text": "MTX", "start": 34, "end": 37}], "disease": [{"text": "sporadic", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In addition to the activation of angiogenesis by induction of VEGF, HIF-1 may trigger hypoxia-induced growth arrest and apoptosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 62, "end": 66}], "disease": [{"text": "hypoxia", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In addition, fumaric acid attenuated expression of CC-chemokine receptor 3 (CCR3), an eotaxin-1 receptor, and adhesion molecules that play important roles in eosinophil binding to induce allergic inflammation.", "output": {"entities": {"gene": [{"text": "eotaxin-1", "start": 86, "end": 95}], "disease": [{"text": "inflammation", "start": 196, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "eotaxin-1", "start": 86, "end": 95}, "tail": {"text": "inflammation", "start": 196, "end": 208}}]}}, "schema": []}
{"input": "Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 72, "end": 77}], "disease": [{"text": "neurological manifestations", "start": 118, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "More than 90% of cases are associated with a chromosomal translocation involving the COL1A1 gene on chromosome 17 and the platelet-derived growth factor B gene on chromosome 22.", "output": {"entities": {"gene": [{"text": "COL1A1 gene", "start": 85, "end": 96}], "disease": [{"text": "chromosomal translocation", "start": 45, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "These results suggest the level of p53 expression could determine if the HCC cells would go into cell cycle arrest or apoptosis.", "output": {"entities": {"gene": [{"text": "p53", "start": 35, "end": 38}], "disease": [{"text": "HCC", "start": 73, "end": 76}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "p53", "start": 35, "end": 38}, "tail": {"text": "HCC", "start": 73, "end": 76}}]}}, "schema": []}
{"input": "Tumor expansion was significantly reduced after intratumoral injection of 3 x 10⁸ PFU of either OV. shHDAC1 or OV. p73 and, most important, complete regression could be achieved in 100% of tumors treated with OV. shHDAC1. p73.", "output": {"entities": {"gene": [{"text": "p73", "start": 115, "end": 118}], "disease": [{"text": "regression", "start": 149, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We screened members of the Framingham Heart Study (FHS) for variation in three genes-SLC12A3 (NCCT), SLC12A1 (NKCC2) and KCNJ1 (ROMK)-causing rare recessive diseases featuring large reductions in blood pressure.", "output": {"entities": {"gene": [{"text": "NCCT", "start": 94, "end": 98}], "disease": [{"text": "blood pressure", "start": 196, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "This study adds a new member in the existing list of genes causing cerulean cataract and expands the mutation spectrum and phenotypic association of MIP mutations.", "output": {"entities": {"gene": [{"text": "MIP", "start": 149, "end": 152}], "disease": [{"text": "cerulean cataract", "start": 67, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MIP", "start": 149, "end": 152}, "tail": {"text": "cerulean cataract", "start": 67, "end": 84}}]}}, "schema": []}
{"input": "Association between IGF1 CA microsatellites and mammographic density, anthropometric measures, and circulating IGF-I levels in premenopausal Caucasian women.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 111, "end": 116}], "disease": [{"text": "mammographic density", "start": 48, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Two patients with large deletions of SEDL exons were found, one with childhood onset of painful complications, the other relatively free of additional symptoms.", "output": {"entities": {"gene": [{"text": "SEDL", "start": 37, "end": 41}], "disease": [{"text": "childhood onset", "start": 69, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "PGA1 and Li and their combination significantly enhanced the ischemia-induced elevation in the levels of HSF-1, HO-1, and HSP90alpha, and recovered HSP90beta expression, but decreased Apaf-1 levels in the ischemic striatum.", "output": {"entities": {"gene": [{"text": "HSF-1", "start": 105, "end": 110}], "disease": [{"text": "ischemia", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Upon binding of a Wnt ligand to the frizzled (FZD)-low density lipoprotein receptor related protein 5/6 (LRP5/6) receptor complex, the β-catenin destruction complex, composed of Axin1, adenomatous polyposis coli (APC), glycogen synthase kinase 3 (GSK3) and casein kinase 1 (CK1), is immediately inactivated, which causes β-catenin stabilization.", "output": {"entities": {"gene": [{"text": "CK1", "start": 274, "end": 277}], "disease": [{"text": "adenomatous polyposis coli", "start": 185, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Here we show that expression of COX10 from a retroviral vector complements the COX deficiency in a patient with anemia and Leigh Syndrome, and in a patient with anemia, sensorineural deafness and fatal infantile hypertrophic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "COX10", "start": 32, "end": 37}], "disease": [{"text": "Leigh Syndrome", "start": 123, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX10", "start": 32, "end": 37}, "tail": {"text": "Leigh Syndrome", "start": 123, "end": 137}}]}}, "schema": []}
{"input": "Since SCF (Fbxw7/hCdc4) is functionally inactivated in several human cancer types, alteration of this molecular pathway could contribute to the deregulation of cyclin E2 in tumorigenesis.", "output": {"entities": {"gene": [{"text": "Fbxw7", "start": 11, "end": 16}], "disease": [{"text": "tumorigenesis", "start": 173, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Detailed cytogenetic and molecular analyses revealed three de novo X chromosome aberrations and a karyotype 46, Y, der (X) inv (X) (p11. 4q11. 2) inv (X) (q11. 2q21. 32 approximately q22. 2) del (X) (q22. 3q22. 3) was determined.", "output": {"entities": {"gene": [{"text": "p11", "start": 132, "end": 135}], "disease": [{"text": "chromosome aberrations", "start": 69, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.", "output": {"entities": {"gene": [{"text": "MAX", "start": 28, "end": 31}], "disease": [{"text": "pheochromocytoma", "start": 67, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAX", "start": 28, "end": 31}, "tail": {"text": "pheochromocytoma", "start": 67, "end": 83}}]}}, "schema": []}
{"input": "We have also evaluated the involvement of GNE in several families from worldwide non-Jewish ethnic origins presenting symptoms similar to the Middle Eastern HIBM prototype.", "output": {"entities": {"gene": [{"text": "GNE", "start": 42, "end": 45}], "disease": [{"text": "HIBM", "start": 157, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNE", "start": 42, "end": 45}, "tail": {"text": "HIBM", "start": 157, "end": 161}}]}}, "schema": []}
{"input": "Interestingly, PB cells from lymphadenopathy patients shared GEP with LN cells.", "output": {"entities": {"gene": [{"text": "GEP", "start": 61, "end": 64}], "disease": [{"text": "lymphadenopathy", "start": 29, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The MRIBview estimates of volumetric breast density are highly correlated with mammographic dense area but are not equivalent measures; the MRI absolute dense volume shows potential as a predictor of breast cancer risk that merits further investigation.", "output": {"entities": {"gene": [{"text": "MRI", "start": 4, "end": 7}], "disease": [{"text": "breast cancer", "start": 200, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "In four hyperuricemic patients with mild neurological abnormality, no mutations responsible for partial HPRT deficiency were identified in HPRT1.", "output": {"entities": {"gene": [{"text": "HPRT1", "start": 139, "end": 144}], "disease": [{"text": "HPRT deficiency", "start": 104, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HPRT1", "start": 139, "end": 144}, "tail": {"text": "HPRT deficiency", "start": 104, "end": 119}}]}}, "schema": []}
{"input": "Although the total protein expressions of IR-β, IRS-1, PI3K, PKB and GLUT4 in skeletal muscle were not affected, insulin-stimulated GLUT4 translocation and phosphorylation of Tyr-IR-β, Tyr612-IRS-1, p85-PI3K, Ser473-PKB, and Thr308-PKB were significantly increased by CHS supplement.", "output": {"entities": {"gene": [{"text": "PKB", "start": 61, "end": 64}], "disease": [{"text": "translocation", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Lowered Asc-1 in schizophrenia implies that D-serine reuptake is reduced, perhaps as a response to decreased synaptic D-serine availability.", "output": {"entities": {"gene": [{"text": "Asc-1", "start": 8, "end": 13}], "disease": [{"text": "schizophrenia", "start": 17, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Asc-1", "start": 8, "end": 13}, "tail": {"text": "schizophrenia", "start": 17, "end": 30}}]}}, "schema": []}
{"input": "Differential display RT-PCR analysis allowed us to identify the genes that are responsive to oxidative stress during PCM and to characterize the differential role of cysteine on the expression of the fibrinogen B beta chain, BTG1 and THRP genes as a homeostatic adaptive response during protein deficiency.", "output": {"entities": {"gene": [{"text": "BTG1", "start": 225, "end": 229}], "disease": [{"text": "protein deficiency", "start": 287, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "This study determines VCP may play an important role in progression to CRPC and it can be a favorable target with to develop new therapies to treat ADT resistant prostate cancer.", "output": {"entities": {"gene": [{"text": "VCP", "start": 22, "end": 25}], "disease": [{"text": "prostate cancer", "start": 162, "end": 177}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VCP", "start": 22, "end": 25}, "tail": {"text": "prostate cancer", "start": 162, "end": 177}}]}}, "schema": []}
{"input": "Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 6, "end": 10}], "disease": [{"text": "Alexander disease", "start": 48, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 6, "end": 10}, "tail": {"text": "Alexander disease", "start": 48, "end": 65}}]}}, "schema": []}
{"input": "Krüppel-associated box-containing zinc finger proteins (KRAP-ZFPs) are well recognized as key regulators of transcription, which play a crucial role in the regulation of cell proliferation, differentiation, apoptosis and tumorigenesis.", "output": {"entities": {"gene": [{"text": "KRAP", "start": 56, "end": 60}], "disease": [{"text": "tumorigenesis", "start": 221, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "We conducted a matched case-control study of 1, 380 pairs of women with a BRCA1 or BRCA2 mutation to determine if a history of infertility, the use of fertility medications, or undergoing in vitro fertilization (IVF) were associated with and increased the risk of breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 74, "end": 79}], "disease": [{"text": "infertility", "start": 127, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 13, "end": 18}], "disease": [{"text": "Saethre-Chotzen syndrome", "start": 70, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TWIST", "start": 13, "end": 18}, "tail": {"text": "Saethre-Chotzen syndrome", "start": 70, "end": 94}}]}}, "schema": []}
{"input": "The human TRP-related proteins may mediate many of the store-operated conductances that have been identified previously in a plethora of human cells.", "output": {"entities": {"gene": [{"text": "TRP", "start": 10, "end": 13}], "disease": [{"text": "plethora", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The use of FISH in combination with other molecular techniques has defined the deletion in band 13q14 as the most common abnormality in chronic lymphocytic leukemia, followed by del (11) (q22-23), trisomy 12, del (17) (p13), and del (6) (q21).", "output": {"entities": {"gene": [{"text": "p13", "start": 219, "end": 222}], "disease": [{"text": "trisomy 12", "start": 197, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "In mice fed with WD, proximal colon mucosa, the predominant site of cancer formation in LS, exhibited a significant expression decrease in tumor suppressor genes, Dkk1, Hoxd1, Slc5a8, and Socs1, the latter two only in the Mlh1 (+/-) mice.", "output": {"entities": {"gene": [{"text": "Hoxd1", "start": 169, "end": 174}], "disease": [{"text": "cancer", "start": 68, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "An altered balance between Th1 and Th2 cytokines is responsible for a variety of immunoinflammatory disorders such as asthma, yet the role of posttranscriptional mechanisms, such as those mediated by microRNAs (miRs), in adjusting the relative magnitude and balance of Th cytokine expression have been largely unexplored.", "output": {"entities": {"gene": [{"text": "Th1", "start": 27, "end": 30}], "disease": [{"text": "asthma", "start": 118, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Therefore, SAC has therapeutic potential for preventing nonalcoholic fatty liver disease.", "output": {"entities": {"gene": [{"text": "SAC", "start": 11, "end": 14}], "disease": [{"text": "nonalcoholic fatty liver disease", "start": 56, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Graves' disease (GD) is an autoimmune disease characterized by hyperthyroidism due to the presence of autoantibodies against thyroid-stimulating hormone receptor, which is measured as thyroid-stimulating hormone-binding inhibitory immunoglobulin (TBII).", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 145, "end": 161}], "disease": [{"text": "hyperthyroidism", "start": 63, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that the cold receptor transient receptor potential melastatin 8 (TRPM8) undergoes a complex modulation by clinical concentrations of VAs in dorsal root ganglion neurons and HEK-293 cells heterologously expressing TRPM8.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 80, "end": 85}], "disease": [{"text": "cold", "start": 23, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, the expression of CYP3A4 mRNA and CYP3A7 (P-450 Fla) mRNA, a transcript found in the fetus and highly homologous to CYP3A4, was higher in all nontumorous liver and some of the carcinoma tissues from five HCC patients, whereas it was significantly lower in normal liver tissues from two non-HCC patients.", "output": {"entities": {"gene": [{"text": "CYP3A4", "start": 37, "end": 43}], "disease": [{"text": "carcinoma", "start": 195, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Downregulation of BCL-2 and light-chain switch have rarely been reported in previous cases of FL transformation involving c-MYC, suggesting that additional t (2; 8) translocation may play a role in these events.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 18, "end": 23}], "disease": [{"text": "translocation", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Our findings establish that FABP5 is critical for mammary tumor development, rationalizing the development of FABP5 inhibitors as novel anticarcinogenic drugs.", "output": {"entities": {"gene": [{"text": "FABP5", "start": 28, "end": 33}], "disease": [{"text": "mammary tumor", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We report on the clinical and molecular characterization of the fourth complete PROP1 deletion in a girl with proportional short stature, combined pituitary hormone deficiency and a suprasellar mass mimicking a hypothalamic glioma.", "output": {"entities": {"gene": [{"text": "PROP1", "start": 80, "end": 85}], "disease": [{"text": "pituitary hormone deficiency", "start": 147, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Propofol also down-regulated, in A549 cells, the expression of IL-6, IL-8, and TNF-α, Bcl-2/adenovirus E1B 19 kDa interacting protein 3 (BNIP3), and apoptosis.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 137, "end": 142}], "disease": [{"text": "adenovirus", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Using chimeric mice, we demonstrated that PAR1-mediated protection against H. pylori gastritis requires bone marrow-derived cells.", "output": {"entities": {"gene": [{"text": "PAR1", "start": 42, "end": 46}], "disease": [{"text": "gastritis", "start": 85, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Homozygous truncating mutations in POMK lead to CMD with secondary merosin deficiency, hypomyelination and intellectual disability.", "output": {"entities": {"gene": [{"text": "POMK", "start": 35, "end": 39}], "disease": [{"text": "secondary", "start": 57, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge this is the first documentation of successful treatment in a patient with PAIS and a point mutation in the DNA-binding domain of the androgen receptor.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 150, "end": 167}], "disease": [{"text": "PAIS", "start": 91, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 150, "end": 167}, "tail": {"text": "PAIS", "start": 91, "end": 95}}]}}, "schema": []}
{"input": "To establish a role for insulin-like growth factor-1 (IGF-1) in bladder cancer susceptibility, we tested the effect of p-cresidine, a potent bladder carcinogen, in transgenic (TG) mice with human IGF-1 expression in the bladder driven by the bovine keratin 5 promoter (referred to as BK5. IGF-1 TG mice).", "output": {"entities": {"gene": [{"text": "insulin-like growth factor-1", "start": 24, "end": 52}], "disease": [{"text": "bladder cancer", "start": 64, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "insulin-like growth factor-1", "start": 24, "end": 52}, "tail": {"text": "bladder cancer", "start": 64, "end": 78}}]}}, "schema": []}
{"input": "To define the genetics of juvenile-onset sporadic ALS (SALS) of Chinese origin, we sequenced all 5 exons of SOD1, exons 3-6 and 12-15 of FUS in 11 juvenile-onset SALS patients, 105 adult-onset ALS patients (including 6 familial ALS [FALS] pedigrees), and 245 healthy controls.", "output": {"entities": {"gene": [{"text": "FUS", "start": 137, "end": 140}], "disease": [{"text": "sporadic", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In this work, we identified TRDN as a new gene responsible for an autosomal recessive form of CPVT.", "output": {"entities": {"gene": [{"text": "TRDN", "start": 28, "end": 32}], "disease": [{"text": "CPVT", "start": 94, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRDN", "start": 28, "end": 32}, "tail": {"text": "CPVT", "start": 94, "end": 98}}]}}, "schema": []}
{"input": "The purpose was to evaluate the hypoxia-orchestrated control of E-cadherin transactivation via hypoxia inducible factor-1 (HIF-1) and peroxisome proliferator activated receptor-γ (PPARγ), and the involvement of Hippo pathway members, as regulators of transcription factors.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 180, "end": 185}], "disease": [{"text": "hypoxia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Identification of ATF-3, caveolin-1, DLC-1, and NM23-H2 as putative antitumorigenic, progesterone-regulated genes for ovarian cancer cells by gene profiling.", "output": {"entities": {"gene": [{"text": "ATF-3", "start": 18, "end": 23}], "disease": [{"text": "ovarian cancer", "start": 118, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ATF-3", "start": 18, "end": 23}, "tail": {"text": "ovarian cancer", "start": 118, "end": 132}}]}}, "schema": []}
{"input": "TCL1B is overexpressed in ERalpha-positive compared with ERalpha-negative breast cancers and in lung metastasis-free breast cancers.", "output": {"entities": {"gene": [{"text": "TCL1B", "start": 0, "end": 5}], "disease": [{"text": "lung metastasis", "start": 96, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The AIM-2-reactive T-cell clone recognized a number of neuroectodermal tumors as well as breast, ovarian, and colon carcinomas that expressed HLA-A1, indicating that this represents a widely expressed tumor antigen.", "output": {"entities": {"gene": [{"text": "AIM", "start": 4, "end": 7}], "disease": [{"text": "neuroectodermal tumors", "start": 55, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In this report, we assessed the role of c-fms inhibition within the tumor cells (autocrine effect) in the early establishment of breast cancer cells in bone and the effects of this early c-fms inhibition on subsequent bone metastases and destruction.", "output": {"entities": {"gene": [{"text": "c-fms", "start": 40, "end": 45}], "disease": [{"text": "bone metastases", "start": 218, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Here, we have performed a robust prospective nationwide genetic association study in patients with bacterial meningitis and found that a common nonsynonymous complement component 5 (C5) SNP (rs17611) is associated with unfavorable disease outcome.", "output": {"entities": {"gene": [{"text": "complement component 5", "start": 158, "end": 180}], "disease": [{"text": "bacterial meningitis", "start": 99, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "An epithelial to mesenchymal transition (EMT) constitutes one way that cancer cells can gain traits that promote tumor progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 41, "end": 44}], "disease": [{"text": "tumor progression", "start": 113, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Moreover, UROD was significantly overexpressed in HNC patient biopsies.", "output": {"entities": {"gene": [{"text": "UROD", "start": 10, "end": 14}], "disease": [{"text": "HNC", "start": 50, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "UROD", "start": 10, "end": 14}, "tail": {"text": "HNC", "start": 50, "end": 53}}]}}, "schema": []}
{"input": "Furthermore, hypoxia treatment resulted in a doubling of VEGF mRNA stability.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 57, "end": 61}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Estrogen-receptor-positive PDXs were associated with ESR1 ligand-binding-domain mutations, gene amplification, or an ESR1/YAP1 translocation.", "output": {"entities": {"gene": [{"text": "YAP1", "start": 122, "end": 126}], "disease": [{"text": "translocation", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that RhoGDI2 functions in the epithelial-mesenchymal transition (EMT), which is responsible for invasiveness during tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 79, "end": 82}], "disease": [{"text": "tumor progression", "start": 130, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The genotype * 07/* 0201 was frequently found in Sydenhamn' s chorea patients that had also acquired RHD, but DRB1 * 04/DQA1 * 0401 was often apparent in RF patients without RHD.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 110, "end": 114}], "disease": [{"text": "chorea", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Given the established role of 90 kDa ribosomal S6 kinases (Rsk) in oncogenesis, and the promise of new Rsk-blocking cancer treatments, it is perhaps surprising that Rsk2-mediated inhibition of hyperplasia has now been demonstrated to occur in the arthritic synovium.", "output": {"entities": {"gene": [{"text": "Rsk2", "start": 165, "end": 169}], "disease": [{"text": "hyperplasia", "start": 193, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "The 2-oncogene model was characterized by granulocyte-macrophage colony-stimulating factor (GM-CSF) hypersensitivity and activated STAT/ERK signaling.", "output": {"entities": {"gene": [{"text": "ERK", "start": 136, "end": 139}], "disease": [{"text": "hypersensitivity", "start": 100, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Reverse transcription-polymerase chain reaction with specific primers demonstrated that multiple human gastric tumor specimens expressed IL-4R \" and IL-2Rgc but did not express the leukocyte marker CD45.", "output": {"entities": {"gene": [{"text": "CD45", "start": 198, "end": 202}], "disease": [{"text": "gastric tumor", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Hypermethylation of SFRP2 gene in fecal DNA is a novel molecular biomarker of CRC and carries a high potential for the remote detection of CRC and premalignant lesions as noninvasive screening method.", "output": {"entities": {"gene": [{"text": "SFRP2 gene", "start": 20, "end": 30}], "disease": [{"text": "premalignant", "start": 147, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Data from 2 population-based case-control studies of colon and rectal cancer conducted in Utah and Northern California were used to evaluate associations between body mass index (BMI), physical activity, energy intake and sucrose-to-fiber ratio and a CA repeat polymorphism of the IGF1 gene, the A/C polymorphism at nucleotide-202 of the IGFBP3, the G972R polymorphism of the IRS1 gene and the G1057D polymorphism of the IRS2 gene.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 338, "end": 344}], "disease": [{"text": "body mass index", "start": 162, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Eighty-five cases of primary HCC were further examined by immunohistochemistry and statistical analyses demonstrated that HCC scored lower than matched non-neoplastic liver tissues consistently and significantly.", "output": {"entities": {"gene": [{"text": "HCC", "start": 29, "end": 32}], "disease": [{"text": "non-neoplastic", "start": 152, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "This retrospective study included 29 patients with confirmed mutations in the DYSF gene (14 MM, 12 LGMD2B, 1 asymptomatic hyperCKemia, and 2 symptomatic carriers).", "output": {"entities": {"gene": [{"text": "DYSF gene", "start": 78, "end": 87}], "disease": [{"text": "asymptomatic", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The natural mutant receptor hGR & #945; V423A causes primary generalized glucocorticoid resistance by affecting multiple steps in the cascade of glucocorticoid receptor action, which primarily involve decreased ability to bind to target glucocorticoid response elements and delayed translocation into the nucleus.", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 145, "end": 168}], "disease": [{"text": "generalized glucocorticoid resistance", "start": 61, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glucocorticoid receptor", "start": 145, "end": 168}, "tail": {"text": "generalized glucocorticoid resistance", "start": 61, "end": 98}}]}}, "schema": []}
{"input": "These results reveal a previously unrecognized interaction between IQGAP1 and RhoC, and demonstrate that IQGAP1 is a downstream effector of RhoC in the regulation of the migration activity of gastric cancer cells.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 78, "end": 82}], "disease": [{"text": "gastric cancer", "start": 192, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "To determine whether genetic polymorphisms in detoxification enzymes predispose to the development of CRC, 371 patients with sporadic CRC and 415 healthy controls were genotyped for polymorphisms in the important detoxification enzymes UDP-glucuronosyltransferase UGT1A1, UGT1A6, UGT1A7 and UGT1A8, and glutathione S-transferase GSTA1, GSTM1, GSTP1 and GSTT1.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 336, "end": 341}], "disease": [{"text": "sporadic", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In 595 GAD-negative, drug naïve patients (mean ± SD; age: 58. 5 ± 10. 2 yrs; BMI: 29. 9 ± 5 kg/m (2), HbA1c: 7. 0 ± 1. 3) with newly diagnosed type 2 diabetes we: 1. genotyped 10 tag SNPs in CACNA1E region reportedly covering ∼ 93% of CACNA1E common variability: rs558994, rs679931, rs2184945, rs10797728, rs3905011, rs12071300, rs175338, rs3753737, rs2253388 and rs4652679; 2. assessed clinical phenotypes, insulin sensitivity by the euglycemic insulin clamp and beta cell function by state-of-art modelling of glucose/C-peptide curves during OGTT.", "output": {"entities": {"gene": [{"text": "CACNA1E", "start": 191, "end": 198}], "disease": [{"text": "insulin sensitivity", "start": 408, "end": 427}]}, "relations": {}}, "schema": []}
{"input": "However, no influence of ACE and AT1R polymorphisms on left ventricular mass was found, regardless of systemic hypertension.", "output": {"entities": {"gene": [{"text": "ACE", "start": 25, "end": 28}], "disease": [{"text": "left ventricular mass", "start": 55, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the presence of myofibroblasts in HGF could be dependent on CTFG expression levels, and different biological mechanisms may account for the gingival overgrowth observed in HGF patients.", "output": {"entities": {"gene": [{"text": "HGF", "start": 59, "end": 62}], "disease": [{"text": "gingival overgrowth", "start": 165, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Pretreatment with the DOR agonist, BW373U86, limited infarct development to 37. 2 +/-1. 8%, which was reversed by the selective DOR antagonist, BNTX.", "output": {"entities": {"gene": [{"text": "DOR", "start": 22, "end": 25}], "disease": [{"text": "infarct", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities, particularly ventricular preexcitation.", "output": {"entities": {"gene": [{"text": "LAMP2", "start": 48, "end": 53}], "disease": [{"text": "glycogen-storage cardiomyopathy", "start": 4, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LAMP2", "start": 48, "end": 53}, "tail": {"text": "glycogen-storage cardiomyopathy", "start": 4, "end": 35}}]}}, "schema": []}
{"input": "In the entorhinal cortex, most changes in glutamate receptor expression were associated with BD, with decreased GluR2, GluR3, and GluR6 mRNA expression.", "output": {"entities": {"gene": [{"text": "GluR2", "start": 112, "end": 117}], "disease": [{"text": "BD", "start": 93, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GluR2", "start": 112, "end": 117}, "tail": {"text": "BD", "start": 93, "end": 95}}]}}, "schema": []}
{"input": "We hypothesize that increased levels of pantetheinase activity are part of the inflammatory-regenerative epidermal differentiation program, and may contribute to the phenotype observed in psoriasis.", "output": {"entities": {"gene": [{"text": "pantetheinase", "start": 40, "end": 53}], "disease": [{"text": "psoriasis", "start": 188, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pantetheinase", "start": 40, "end": 53}, "tail": {"text": "psoriasis", "start": 188, "end": 197}}]}}, "schema": []}
{"input": "MBCA suppressed PMA-and histamine-induced upregulation of H1R expression at both mRNA and protein levels and inhibited PMA-induced phosphorylation of PKCδ at Tyr (311) and subsequent translocation to the Golgi.", "output": {"entities": {"gene": [{"text": "H1R", "start": 58, "end": 61}], "disease": [{"text": "translocation", "start": 183, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.", "output": {"entities": {"gene": [{"text": "proinsulin", "start": 30, "end": 40}], "disease": [{"text": "hyperproinsulinemia", "start": 84, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "proinsulin", "start": 30, "end": 40}, "tail": {"text": "hyperproinsulinemia", "start": 84, "end": 103}}]}}, "schema": []}
{"input": "Knockdown of FGFR3 led to a decrease in phosphorylation of the downstream kinases mitogen-activated protein kinase (MAPK) and protein kinase B (PKB), which was more pronounced under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 13, "end": 18}], "disease": [{"text": "hypoxic", "start": 182, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Inactivating mutations in the TSH receptor can be associated with severe TSH resistance presenting as congenital hypothyroidism with apparent athyreosis.", "output": {"entities": {"gene": [{"text": "TSH receptor", "start": 30, "end": 42}], "disease": [{"text": "athyreosis", "start": 142, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSH receptor", "start": 30, "end": 42}, "tail": {"text": "athyreosis", "start": 142, "end": 152}}]}}, "schema": []}
{"input": "Chk1 and Cdh1 activation was inhibited when polyploidy emerged in force, both of which are critical components for mitotic exit and cytokinesis.", "output": {"entities": {"gene": [{"text": "Chk1", "start": 0, "end": 4}], "disease": [{"text": "polyploidy", "start": 44, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Chk1", "start": 0, "end": 4}, "tail": {"text": "polyploidy", "start": 44, "end": 54}}]}}, "schema": []}
{"input": "Twenty-four single nucleotide polymorphisms of 11 stress-related genes (COMT, CRHR1, FKBP5, GABRA6, HSD11β2, MAOA, NPY, NR3C1, SERPINA6, SLC6A4, and TPH2) were investigated in 220 healthy mothers of children with facial clefts and 210 matched controls using restriction fragment-length polymorphism and high-resolution melting analysis.", "output": {"entities": {"gene": [{"text": "NPY", "start": 115, "end": 118}], "disease": [{"text": "facial clefts", "start": 213, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.", "output": {"entities": {"gene": [{"text": "DCTN4", "start": 50, "end": 55}], "disease": [{"text": "Pseudomonas aeruginosa infection", "start": 81, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DCTN4", "start": 50, "end": 55}, "tail": {"text": "Pseudomonas aeruginosa infection", "start": 81, "end": 113}}]}}, "schema": []}
{"input": "The study describes the stress response in the central cotyledon zone of placental tissue and in maternal whole peripheral blood to pregnancy related complications including gestational hypertension (n = 31), preeclampsia w or w/o fetal growth restriction (n = 95), and fetal growth restriction (n = 39) using real-time RT-PCR and genes encoding Hsp27, Hsp60, Hsp70, Hsp90 and HspBP1 proteins.", "output": {"entities": {"gene": [{"text": "Hsp90", "start": 367, "end": 372}], "disease": [{"text": "preeclampsia", "start": 209, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "The traits included hemoglobin concentration (HGB), hematocrit (HCT), RBC count, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC).", "output": {"entities": {"gene": [{"text": "MCH", "start": 141, "end": 144}], "disease": [{"text": "mean corpuscular volume", "start": 81, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "SMAD4 mRNA and protein levels were repressed by VPA (p < 0. 05), whereas the level of mono-ubiquitinated SMAD4 was increased (p < 0. 05).", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 0, "end": 5}], "disease": [{"text": "mono", "start": 86, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.", "output": {"entities": {"gene": [{"text": "PIGV", "start": 302, "end": 306}], "disease": [{"text": "facial dysmorphism", "start": 132, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "HIF-1α stabilization and the expression of VEGF isoform 165 and 121 in hypoxia were also reduced by the infection of lentiviral shRNA of TB4 in B16F10 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 43, "end": 47}], "disease": [{"text": "hypoxia", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization (FISH) was applied to neuroblastoma for detection of N-myc (MYCN) oncogene amplification, and the results were compared with Southern blot analysis (Southern).", "output": {"entities": {"gene": [{"text": "FISH", "start": 36, "end": 40}], "disease": [{"text": "neuroblastoma", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "This relationship between increased claudin-4 expression and adverse outcome was validated at the mRNA level in a DNA microarray dataset of 295 breast tumours.", "output": {"entities": {"gene": [{"text": "claudin-4", "start": 36, "end": 45}], "disease": [{"text": "breast tumours", "start": 144, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "claudin-4", "start": 36, "end": 45}, "tail": {"text": "breast tumours", "start": 144, "end": 158}}]}}, "schema": []}
{"input": "The cell line (LS2) is derived from a pleomorphic liposarcoma that uses the alternative lengthening of telomeres (ALT) mechanism of telomere maintenance, which may be important in modulating the response of this tumor type to DNA-damaging agents.", "output": {"entities": {"gene": [{"text": "LS2", "start": 15, "end": 18}], "disease": [{"text": "pleomorphic liposarcoma", "start": 38, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In order to assess a role of B19 virus in haemophilic arthritis, synovial tissue samples from patients with haemophilia with arthritis and from patients, nonhaemophiliacs, with arthrosis or with joint trauma were examined for B19 DNA by nested PCR.", "output": {"entities": {"gene": [{"text": "B19", "start": 29, "end": 32}], "disease": [{"text": "haemophilia", "start": 108, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We examined the association between diabetic retinopathy and monocyte chemoattractant protein (MCP)-1 A-2518G polymorphism in 3802 Japanese type 2 diabetic subjects.", "output": {"entities": {"gene": [{"text": "MCP", "start": 95, "end": 98}], "disease": [{"text": "diabetic retinopathy", "start": 36, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Whereas IGFBP5 enhanced adhesion, it inhibited cell migration, although this was not evident using the truncated C-terminal mutant, suggesting that effects of IGFBP5 on adhesion and migration involve different mechanisms.", "output": {"entities": {"gene": [{"text": "IGFBP5", "start": 8, "end": 14}], "disease": [{"text": "adhesion", "start": 24, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.", "output": {"entities": {"gene": [{"text": "Zdhhc13", "start": 78, "end": 85}], "disease": [{"text": "amyloidosis", "start": 47, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Zdhhc13", "start": 78, "end": 85}, "tail": {"text": "amyloidosis", "start": 47, "end": 58}}]}}, "schema": []}
{"input": "The HSL genotype was determined by PCR-RFLP and the lipase activity was detected by turbidometery in 164 fertile and 169 infertile males.", "output": {"entities": {"gene": [{"text": "HSL", "start": 4, "end": 7}], "disease": [{"text": "infertile", "start": 121, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Both a homozygote and heterozygote with this RK mutation had recovery phase abnormalities of rod-isolated photoresponses by electroretinography (ERG); photoactivation was normal.", "output": {"entities": {"gene": [{"text": "ERG", "start": 145, "end": 148}], "disease": [{"text": "abnormalities", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Specimens of the primary carcinoma were available for analysis of hormone receptor, Ki67 labelling index, epidermal growth factor receptor (EGFR), c-erbB-2, p53 and ras p21.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 66, "end": 82}], "disease": [{"text": "primary carcinoma", "start": 17, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Functional analysis of the Tcl1 protein revealed its involvement in an Akt (protein kinase B) prosurvival pathway through its interaction with the Akt kinase, which promotes translocation of Akt to the nucleus and increases Akt' s enzymatic activity.", "output": {"entities": {"gene": [{"text": "Akt' s", "start": 224, "end": 230}], "disease": [{"text": "translocation", "start": 174, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The present report based on gated analysis of androgen receptor expression in nuclei isolated from archival formalin fixed/paraffin embedded breast tumors shows that receptor expression in aneuploid sub-populations is greater than that of the diploid cells.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 46, "end": 63}], "disease": [{"text": "aneuploid", "start": 189, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Normal parathyroid glands had the highest p27 LI (89. 6 +/-1. 4), followed by hyperplasia (69. 6 +/-7. 5), adenomas (56. 8 +/-3. 4), and carcinomas (13. 9 +/-2. 6).", "output": {"entities": {"gene": [{"text": "p27", "start": 42, "end": 45}], "disease": [{"text": "hyperplasia", "start": 78, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "This conclusion was confirmed shortly after birth by normal serum AFP levels and the lack of increased spontaneous or clastogen-induced chromosome breakage in the infant' s cells.", "output": {"entities": {"gene": [{"text": "AFP", "start": 66, "end": 69}], "disease": [{"text": "chromosome breakage", "start": 136, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "However, few studies have focused on the clinical relevance of MIF and cyclin D1 expression in hepatocellular carcinoma cells (HCCs).", "output": {"entities": {"gene": [{"text": "MIF", "start": 63, "end": 66}], "disease": [{"text": "hepatocellular carcinoma", "start": 95, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "To shed more light on this issue, we comparatively investigated the impact of resveratrol and the synthetic STAC SRT1720 on the responsiveness of Ewing' s sarcoma (ES) cells to the chemotherapeutic drugs etoposide and vincristine.", "output": {"entities": {"gene": [{"text": "STAC", "start": 108, "end": 112}], "disease": [{"text": "sarcoma", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Subsequent FISH analysis demonstrated one of these to be an IGH/BCL2 translocation and one to be a CMYC/IGH translocation, while the translocation partners in the remaining two cases are currently unidentified.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 64, "end": 68}], "disease": [{"text": "translocation", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Heparanase, the sole mammalian endoglycosidase degrading heparan sulfate, is causally involved in cancer metastasis, angiogenesis, inflammation and kidney dysfunction.", "output": {"entities": {"gene": [{"text": "Heparanase", "start": 0, "end": 10}], "disease": [{"text": "kidney dysfunction", "start": 148, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype.", "output": {"entities": {"gene": [{"text": "cationic trypsinogen", "start": 65, "end": 85}], "disease": [{"text": "HP", "start": 114, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cationic trypsinogen", "start": 65, "end": 85}, "tail": {"text": "HP", "start": 114, "end": 116}}]}}, "schema": []}
{"input": "TLR-4 not only responds to exogenous microbial motifs but can also recognize molecules which are released by stressed and necrotic cells, as well as degraded products of endogenous macromolecules.", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 0, "end": 5}], "disease": [{"text": "necrotic", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "PAR activation has been shown to have pro-tumourigenic effects including the production of matrix metalloproteinases that can promote tumour cell growth and metastasis, and transactivation of the epidermal growth factor receptor, which is a main target for cancer treatment.", "output": {"entities": {"gene": [{"text": "PAR", "start": 0, "end": 3}], "disease": [{"text": "metastasis", "start": 157, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Significantly diminished foci numbers coupled with massive senescence/growth arrest and elevated expression of cyclin-dependent kinase inhibitors (CDKIs) p21 (CIP1), p27 (kip1), and/or p16 (ink4a) occurred in RBP2-depleted gastric and cervical cancer cells.", "output": {"entities": {"gene": [{"text": "RBP2", "start": 209, "end": 213}], "disease": [{"text": "cervical cancer", "start": 235, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Of 82 miRNAs that were modulated during tumor progression, 22 were involved in EMT.", "output": {"entities": {"gene": [{"text": "EMT", "start": 79, "end": 82}], "disease": [{"text": "tumor progression", "start": 40, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "A stepwise multivariate linear regression analysis (R (2) = 0. 18, P < 0. 0001) retained menstrual dysfunction (beta = 0. 14, P = 0. 035), free testosterone (beta = 0. 14, P = 0. 052), insulin sensitivity index (beta =-0. 12, P = 0. 012), the His63Asp variant in HFE (beta = 0. 16, P = 0. 008), and abnormal glucose tolerance (beta = 0. 15, P = 0. 015) as significant predictors of the logarithm of ferritin levels, whereas CRP, haptoglobin, waist-to-hip ratio, or variants in the TNFalpha, TNFRSF1B, IL6, IL6ST, IL6Ralpha, PON1, and HFE Cys282Tyr mutation exerted no influence.", "output": {"entities": {"gene": [{"text": "CRP", "start": 424, "end": 427}], "disease": [{"text": "waist-to-hip ratio", "start": 442, "end": 460}]}, "relations": {}}, "schema": []}
{"input": "Partial reduction of Dnm2 in mice harboring Mtm1 mutations remarkably rescued muscle wasting and lethality, and this effect was muscle specific.", "output": {"entities": {"gene": [{"text": "Dnm2", "start": 21, "end": 25}], "disease": [{"text": "muscle wasting", "start": 78, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "High-density lipoprotein cholesterol is related to the TaqIB cholesteryl ester transfer protein gene polymorphism and smoking, but not to moderate alcohol consumption in insulin-dependent diabetic men.", "output": {"entities": {"gene": [{"text": "cholesteryl ester transfer protein", "start": 61, "end": 95}], "disease": [{"text": "alcohol consumption", "start": 147, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder; (ii) these two disorders share common disease-related mechanisms linked to dopamine signalling; (iii) the expression of these genes is closely correlated; and (iv) DRD2 provides the initial trigger in the pathogenesis of these disorders.", "output": {"entities": {"gene": [{"text": "DARPP-32", "start": 56, "end": 64}], "disease": [{"text": "schizophrenia", "start": 102, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DARPP-32", "start": 56, "end": 64}, "tail": {"text": "schizophrenia", "start": 102, "end": 115}}]}}, "schema": []}
{"input": "Haplotype analysis for the markers D13S115, D13S232, D13S292, D13S787, D13S1243 and D13S283 internal to and flanking the gamma-sarcoglycan gene showed the affected sisters shared haplotypes, indicating it was possible they were suffering from a gamma-sarcoglycanopathy.", "output": {"entities": {"gene": [{"text": "gamma-sarcoglycan", "start": 121, "end": 138}], "disease": [{"text": "gamma-sarcoglycanopathy", "start": 245, "end": 268}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gamma-sarcoglycan", "start": 121, "end": 138}, "tail": {"text": "gamma-sarcoglycanopathy", "start": 245, "end": 268}}]}}, "schema": []}
{"input": "Oil red-O-positive lipid-rich lesion was reduced, which was accompanied by an increase of collagen fiber and decrease of necrotic core lesion in atherosclerotic plaque in ARIA/ApoE double-deficient mice.", "output": {"entities": {"gene": [{"text": "ARIA", "start": 171, "end": 175}], "disease": [{"text": "necrotic", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The neovascular effects of CTGF/CCN2 were mediated, at least in part, through increased expression and activity of matrix metalloproteinase (MMP)-2, which drives vascular remodeling through degradation of matrix and non matrix proteins, migration and invasion of endothelial cells, and formation of new vascular patterns.", "output": {"entities": {"gene": [{"text": "CCN2", "start": 32, "end": 36}], "disease": [{"text": "vascular remodeling", "start": 162, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, we were able to identify the R83H mutation in the KCNE3 gene in one sporadic case of THypoKPP, a man who had been asymptomatic until developing thyrotoxicosis caused by Graves' disease; we confirmed the disease-causing mutation in 2 of 3 descendants.", "output": {"entities": {"gene": [{"text": "KCNE3 gene", "start": 69, "end": 79}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Altogether, we suggest that Foxa1 could be a novel therapeutic target for NAFL disease and insulin resistance.", "output": {"entities": {"gene": [{"text": "Foxa1", "start": 28, "end": 33}], "disease": [{"text": "insulin resistance", "start": 91, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827).", "output": {"entities": {"gene": [{"text": "CD276", "start": 346, "end": 351}], "disease": [{"text": "inflammation", "start": 319, "end": 331}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the expression of sarcolipin, phospholamban, cardiac calsequestrin and sodium calcium exchanger mRNAs in the right atrial myocardium from nine patients with mitral valvular disease with atrial fibrillation (MVD/AF), nine patients with MVD who had normal sinus rhythm (MVD/NSR), and 10 control patients with normal sinus rhythm who received open heart surgery (controls).", "output": {"entities": {"gene": [{"text": "sarcolipin", "start": 30, "end": 40}], "disease": [{"text": "mitral valvular disease", "start": 169, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "autoimmune hepatitis, type 2 diabetes, a family history of HCC, hypothyroidism, and non-alcoholic steatohepatitis also show an increased risk of HCC compared to the general population.", "output": {"entities": {"gene": [{"text": "HCC", "start": 59, "end": 62}], "disease": [{"text": "autoimmune hepatitis", "start": 0, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "We found that schizophrenia subjects homozygous for the MIR137HG risk allele show significant decreases in occipital, parietal and temporal lobe GMC with increasing miR-137-regulated GRS, whereas those carrying the protective minor allele show significant increases in GMC with GRS.", "output": {"entities": {"gene": [{"text": "GRS", "start": 183, "end": 186}], "disease": [{"text": "schizophrenia", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.", "output": {"entities": {"gene": [{"text": "PSD-93", "start": 198, "end": 204}], "disease": [{"text": "major depression", "start": 120, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD-93", "start": 198, "end": 204}, "tail": {"text": "major depression", "start": 120, "end": 136}}]}}, "schema": []}
{"input": "Research on the etiology and pathogenesis of sporadic Alzheimer' s disease (AD) has focused on the role of chemokines such as CX3CL1, on the triggering receptors expressed by myeloid cells (TREMs), especially TREM2, and on the transcription factor/nuclear hormone receptor peroxisome proliferator-activated receptor gamma (PPARγ).", "output": {"entities": {"gene": [{"text": "CX3CL1", "start": 126, "end": 132}], "disease": [{"text": "sporadic", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We investigated the effect of the peroxisome proliferator-activated receptor-gamma (PPAR-gamma) agonist pioglitazone on growth and TRAIL-induced apoptosis in carcinoid cells.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 131, "end": 136}], "disease": [{"text": "carcinoid", "start": 158, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the mutation and expression of the p51/p63 gene in 80 cases of chronic myelogenous leukemia (CML) to evaluate its role in blastic transformation.", "output": {"entities": {"gene": [{"text": "p63", "start": 51, "end": 54}], "disease": [{"text": "chronic myelogenous leukemia", "start": 75, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "PLD2 expression was also increased in ischemia-resistant CA3 neurons and dentate granule cells, although weaker staining intensity was noted.", "output": {"entities": {"gene": [{"text": "CA3", "start": 57, "end": 60}], "disease": [{"text": "ischemia", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Fenofibrate treatment significantly decreased serum RBP4 levels of dyslipidemic patients, which correlated with reduced body weight and increased insulin sensitivity.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 52, "end": 56}], "disease": [{"text": "body weight", "start": 120, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and & #945; Klotho).", "output": {"entities": {"gene": [{"text": "Klotho", "start": 132, "end": 138}], "disease": [{"text": "Hyperphosphatemic familial tumoral calcinosis", "start": 59, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Klotho", "start": 132, "end": 138}, "tail": {"text": "Hyperphosphatemic familial tumoral calcinosis", "start": 59, "end": 104}}]}}, "schema": []}
{"input": "Fourteen days after the MCAO, there was a significantly lower infarct volume without aggravating cerebral edema in the group treated with VEGF gene-modified BMSCs compared with the control groups.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 138, "end": 142}], "disease": [{"text": "infarct", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Glycogen synthase kinase-3 (GSK-3) is a serine/threonine protein kinase that interacts with the N-terminal region of DISC1 (aa 1-220) and has been implicated as an important downstream component in the etiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "serine/threonine protein kinase", "start": 40, "end": 71}], "disease": [{"text": "schizophrenia", "start": 214, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "serine/threonine protein kinase", "start": 40, "end": 71}, "tail": {"text": "schizophrenia", "start": 214, "end": 227}}]}}, "schema": []}
{"input": "Expression of claudins 1, 4, 5, 7 and occludin was significantly increased in HCC specimens compared to non-neoplastic liver tissues and normal controls (p < 0. 001 in each case) Moreover, there was a statistically significant association between low level of claudin-4 and advanced tumor grade (p = 0. 03).", "output": {"entities": {"gene": [{"text": "HCC", "start": 78, "end": 81}], "disease": [{"text": "non-neoplastic", "start": 104, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Reintroduction of SGNE1 into the medulloblastoma cell line D283Med led to a significant growth suppression and reduced colony formation.", "output": {"entities": {"gene": [{"text": "SGNE1", "start": 18, "end": 23}], "disease": [{"text": "medulloblastoma", "start": 33, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SGNE1", "start": 18, "end": 23}, "tail": {"text": "medulloblastoma", "start": 33, "end": 48}}]}}, "schema": []}
{"input": "The COL1A1/PDGFB translocation was detected in 93% of DFSP.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 11, "end": 16}], "disease": [{"text": "translocation", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that mutations in INI1 that cause schwannomatosis target a hitherto unidentified N-terminal winged helix DNA binding domain that is also present in the BAF45a/PHF10 subunit of the SWI/SNF complex.", "output": {"entities": {"gene": [{"text": "PHF10", "start": 173, "end": 178}], "disease": [{"text": "schwannomatosis", "start": 48, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Review of the literature indicates that recurrent mutations account for 25% of SCN1A mutations in severe myoclonic epilepsy of infancy, including six sites of deamination at CpG dinucleotides.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 79, "end": 84}], "disease": [{"text": "severe myoclonic epilepsy of infancy", "start": 98, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN1A", "start": 79, "end": 84}, "tail": {"text": "severe myoclonic epilepsy of infancy", "start": 98, "end": 134}}]}}, "schema": []}
{"input": "We investigated TP53 pathway disruption in paediatric BL patient samples (n = 30) by studying MDM4, MDM2, and CDKN1A (p21) protein and mRNA expression; TP53 mutations; TP53 protein expression; and gene copy number abnormalities.", "output": {"entities": {"gene": [{"text": "MDM4", "start": 94, "end": 98}], "disease": [{"text": "abnormalities", "start": 214, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "We determined if mRNAs encoding presynaptic proteins enriched in inhibitory (vesicular gamma-aminobutyric acid transporter [VGAT] and complexin 1) and/or excitatory (vesicular glutamate transporter 1 [VGluT1] and complexin 2) terminals are altered in the dorsolateral prefrontal cortex of subjects with schizophrenia (n = 37 patients, n = 37 control subjects).", "output": {"entities": {"gene": [{"text": "gamma-aminobutyric acid transporter", "start": 87, "end": 122}], "disease": [{"text": "schizophrenia", "start": 303, "end": 316}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gamma-aminobutyric acid transporter", "start": 87, "end": 122}, "tail": {"text": "schizophrenia", "start": 303, "end": 316}}]}}, "schema": []}
{"input": "ApoJ/Clusterin (CLU) is a heterodimeric protein localized in the nucleus, cytoplasm or secretory organelles and involved in cell survival and neoplastic transformation.", "output": {"entities": {"gene": [{"text": "CLU", "start": 16, "end": 19}], "disease": [{"text": "neoplastic transformation", "start": 142, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "This pilot study enrolled children with fever without source and compared PD-L1 expression on myeloid cells to C-reactive protein, erythrocyte sedimentation rate, leukocyte counts, S100A12, S100A8, S100A9, calprotectin, and procalcitonin.", "output": {"entities": {"gene": [{"text": "calprotectin", "start": 206, "end": 218}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 131, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Our results might indicate that polymorphisms of the EPO gene are associated with Japanese cedar pollinosis.", "output": {"entities": {"gene": [{"text": "EPO gene", "start": 53, "end": 61}], "disease": [{"text": "pollinosis", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether oltipraz, a nuclear respiratory factor 2 alpha subunit (NRF2) activator, improves insulin sensitivity and prevents the development of obesity in mice.", "output": {"entities": {"gene": [{"text": "NRF2", "start": 80, "end": 84}], "disease": [{"text": "insulin sensitivity", "start": 106, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "MUC1/Y-expressing mammary tumor cells can be specifically targeted, in vivo, with the labeled cognate binding protein.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 0, "end": 4}], "disease": [{"text": "mammary tumor", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "SPARC-induced autophagy was morphologically characterized by (i) the formation of membrane-bound autophagic vacuoles (AVOs), (ii) increase in the levels of microtubule-associated protein light chain 3 (LC3) and (iii) induction of the lysososmal enzyme cathepsin B. Cathepsin B, in turn induced mitochondrial release of cytochrome c and activated caspase-3, events that signify the onset of apoptotic cell death.", "output": {"entities": {"gene": [{"text": "LC3", "start": 202, "end": 205}], "disease": [{"text": "autophagic vacuoles", "start": 97, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 88, "end": 97}], "disease": [{"text": "MM", "start": 56, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dysferlin", "start": 88, "end": 97}, "tail": {"text": "MM", "start": 56, "end": 58}}]}}, "schema": []}
{"input": "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.", "output": {"entities": {"gene": [{"text": "GFER", "start": 49, "end": 53}], "disease": [{"text": "myopathy with cataract and combined respiratory-chain deficiency", "start": 88, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFER", "start": 49, "end": 53}, "tail": {"text": "myopathy with cataract and combined respiratory-chain deficiency", "start": 88, "end": 152}}]}}, "schema": []}
{"input": "4) In PMA-stimulated B cells from an X91 + CGD patient in which p22phox was normally expressed and gp91phox was present but lacked five amino acids, translocation of p47phox to the membranes was unaffected, but p67phox and p40phox were poorly translocated, and the production of O2-was greatly reduced with respect to that by normal B cells.", "output": {"entities": {"gene": [{"text": "gp91phox", "start": 99, "end": 107}], "disease": [{"text": "CGD", "start": 43, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gp91phox", "start": 99, "end": 107}, "tail": {"text": "CGD", "start": 43, "end": 46}}]}}, "schema": []}
{"input": "Our data suggest a valuable diagnostic impact of CTGF in serum for the follow-up of patients suffering from chronic liver diseases developing fibrosis, cirrhosis and finally HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 174, "end": 177}], "disease": [{"text": "liver diseases", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for age, sex, types of BDs, and serum concentration of VPA, the variation of GNB3 C825T remained significantly associated with the levels of serum leptin and body mass index (BMI; P & lt; 0. 001 and P = 0. 030, respectively).", "output": {"entities": {"gene": [{"text": "GNB3", "start": 93, "end": 97}], "disease": [{"text": "BD", "start": 39, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNB3", "start": 93, "end": 97}, "tail": {"text": "BD", "start": 39, "end": 41}}]}}, "schema": []}
{"input": "Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.", "output": {"entities": {"gene": [{"text": "COL7A1", "start": 87, "end": 93}], "disease": [{"text": "recessive dystrophic epidermolysis bullosa", "start": 121, "end": 163}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL7A1", "start": 87, "end": 93}, "tail": {"text": "recessive dystrophic epidermolysis bullosa", "start": 121, "end": 163}}]}}, "schema": []}
{"input": "Real-time reverse transcription-PCR analysis of total RNA derived from tumor tissues indicated strong up-regulation of both human and murine VEGF as well as other genes regulated by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 141, "end": 145}], "disease": [{"text": "hypoxia", "start": 182, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "A compound heterozygote for lipoprotein lipase deficiency, Val69--& gt; Leu and Gly188--& gt; Glu: correlation between in vitro LPL activity and clinical expression.", "output": {"entities": {"gene": [{"text": "LPL", "start": 128, "end": 131}], "disease": [{"text": "lipoprotein lipase deficiency", "start": 28, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 128, "end": 131}, "tail": {"text": "lipoprotein lipase deficiency", "start": 28, "end": 57}}]}}, "schema": []}
{"input": "We describe a case of recurrent myocardial infarction caused by coronary thrombosis in a patient with persistent thrombocytopenia who was found to have a coexistence of heterozygous factor V Leiden and primary antiphospholipid syndrome.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 182, "end": 197}], "disease": [{"text": "thrombocytopenia", "start": 113, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Accumulation of the DNA/RNA binding protein fused in sarcoma as cytoplasmic inclusions in neurons and glial cells is the pathological hallmark of all patients with amyotrophic lateral sclerosis with mutations in FUS as well as in several subtypes of frontotemporal lobar degeneration, which are not associated with FUS mutations.", "output": {"entities": {"gene": [{"text": "RNA binding protein", "start": 24, "end": 43}], "disease": [{"text": "sarcoma", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Two alternative groups of carcinomas, termed LOH + and RER +, have been defined on the basis of their genetic anomalies, a biallelic inactivation of the APC or the TGF-betaRII genes, occurring as an alternative, in LOH + or RER + tumors.", "output": {"entities": {"gene": [{"text": "RER", "start": 55, "end": 58}], "disease": [{"text": "carcinomas", "start": 26, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The unbalanced nature of the t (1; 16) (p11; p11. 1) indicates that gain of 1q and/or loss of 16q might be relevant for neoplastic transformation in a subset of MDS patients.", "output": {"entities": {"gene": [{"text": "p11", "start": 40, "end": 43}], "disease": [{"text": "neoplastic transformation", "start": 120, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Inoculation of DeltavpuSHIV (KU-1bMC33) into two pig-tailed macaques resulted in a severe decline of CD4 (+) T cells and neurological disease in one macaque and a more moderate decline of CD4 (+) T cells in the other macaque.", "output": {"entities": {"gene": [{"text": "CD4", "start": 101, "end": 104}], "disease": [{"text": "neurological disease", "start": 121, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy).", "output": {"entities": {"gene": [{"text": "acyl-CoA oxidase 1", "start": 29, "end": 47}], "disease": [{"text": "pseudoneonatal adrenoleukodystrophy", "start": 60, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acyl-CoA oxidase 1", "start": 29, "end": 47}, "tail": {"text": "pseudoneonatal adrenoleukodystrophy", "start": 60, "end": 95}}]}}, "schema": []}
{"input": "Downregulation of JPH2 expression in a model of cardiac hypertrophy was recently associated with defective coupling between plasmalemmal L-type Ca (2 +) channels and sarcoplasmic reticular ryanodine receptors.", "output": {"entities": {"gene": [{"text": "JPH2", "start": 18, "end": 22}], "disease": [{"text": "cardiac hypertrophy", "start": 48, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to examine whether later childbearing can be explained by parental schizophrenia, and in doing so, further evaluate the \" de novo mutation \" hypothesis for the association between APA and NAP.", "output": {"entities": {"gene": [{"text": "APA", "start": 206, "end": 209}], "disease": [{"text": "schizophrenia", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Induction of PH-Tau triggered neuronal death (60% in CA3), astrocytosis, and loss of the processes in CA1.", "output": {"entities": {"gene": [{"text": "CA1", "start": 102, "end": 105}], "disease": [{"text": "astrocytosis", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.", "output": {"entities": {"gene": [{"text": "ATTR", "start": 64, "end": 68}], "disease": [{"text": "familial amyloid polyneuropathy", "start": 31, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATTR", "start": 64, "end": 68}, "tail": {"text": "familial amyloid polyneuropathy", "start": 31, "end": 62}}]}}, "schema": []}
{"input": "A series of four randomized, double-blind, placebo-controlled Phase IIb screening Trials were developed to Investigate the Efficacy of Sorafenib (TIES) when added to select chemotherapies for patients with HER2-negative advanced BC with a primary endpoint of progression-free survival (PFS).", "output": {"entities": {"gene": [{"text": "HER2", "start": 206, "end": 210}], "disease": [{"text": "blind", "start": 36, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We suggest that AgRP improves uremic cachexia and muscle wasting by a peripheral mechanism involving the balance between myostatin and IGF-I.", "output": {"entities": {"gene": [{"text": "AgRP", "start": 16, "end": 20}], "disease": [{"text": "muscle wasting", "start": 50, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Researchers in recent studies have reported that the sonic hedgehog (Shh) signaling pathway plays a crucial role during tumorigenesis, angiogenesis and cellular differentiation.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 53, "end": 67}], "disease": [{"text": "tumorigenesis", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "A stepwise multivariate linear regression analysis (R (2) = 0. 18, P < 0. 0001) retained menstrual dysfunction (beta = 0. 14, P = 0. 035), free testosterone (beta = 0. 14, P = 0. 052), insulin sensitivity index (beta =-0. 12, P = 0. 012), the His63Asp variant in HFE (beta = 0. 16, P = 0. 008), and abnormal glucose tolerance (beta = 0. 15, P = 0. 015) as significant predictors of the logarithm of ferritin levels, whereas CRP, haptoglobin, waist-to-hip ratio, or variants in the TNFalpha, TNFRSF1B, IL6, IL6ST, IL6Ralpha, PON1, and HFE Cys282Tyr mutation exerted no influence.", "output": {"entities": {"gene": [{"text": "IL6ST", "start": 506, "end": 511}], "disease": [{"text": "waist-to-hip ratio", "start": 442, "end": 460}]}, "relations": {}}, "schema": []}
{"input": "The GALV. fus vector had significantly greater antitumor therapeutic potency than the beta-galactosidase vector in the U87 glioma xenograft model.", "output": {"entities": {"gene": [{"text": "U87", "start": 119, "end": 122}], "disease": [{"text": "glioma", "start": 123, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Mutations in isocitrate dehydrogenase 1 and 2 (IDH1/2) have been discovered in several cancer types and cause the neurometabolic syndrome D2-hydroxyglutaric aciduria (D2HGA).", "output": {"entities": {"gene": [{"text": "IDH1", "start": 47, "end": 51}], "disease": [{"text": "aciduria", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Ectopic overexpression of Aurora B induced a significant increase inthe proportion of multinucleated cells in p53 mutant U373-MG, but not in p53 wild-type U87-MG, glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 155, "end": 158}], "disease": [{"text": "glioma", "start": 163, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.", "output": {"entities": {"gene": [{"text": "ZNF750", "start": 77, "end": 83}], "disease": [{"text": "Seborrhea-like dermatitis with psoriasiform elements", "start": 0, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZNF750", "start": 77, "end": 83}, "tail": {"text": "Seborrhea-like dermatitis with psoriasiform elements", "start": 0, "end": 52}}]}}, "schema": []}
{"input": "BL-like tumor cells harbored amplified c-MYC genes with BCL-2/IgH translocation, but FL-like cells solely had BCL-2/IgH translocation.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 56, "end": 61}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We show both in vitro and in vivo that miR-130b overexpression along with DICER1 dysfunction leads to tumor aggression and miRNA synthesis abnormalities that are related to cancer hallmarks through DICER1-miRNAs axis modulation.", "output": {"entities": {"gene": [{"text": "DICER1", "start": 74, "end": 80}], "disease": [{"text": "aggression", "start": 108, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "FBLN5 and LTBP4 mutations cause a very similar phenotype associated with severe pulmonary emphysema, in the absence of vascular tortuosity or aneurysms.", "output": {"entities": {"gene": [{"text": "LTBP4", "start": 10, "end": 15}], "disease": [{"text": "vascular tortuosity", "start": 119, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We previously demonstrated that CD151 forms a functional complex with c-Met and integrin alpha3/alpha6 in human salivary gland cancer cells.", "output": {"entities": {"gene": [{"text": "CD151", "start": 32, "end": 37}], "disease": [{"text": "salivary gland cancer", "start": 112, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The present study was undertaken to determine whether GGT is a marker of bone resorption in two genetic models of hyper-and hypo-function of osteoclasts, as well as in postmenopausal women with accelerated bone resorption, using type I collagen N-telopeptide (NTX) and deoxypyridinoline (DPD) as established biochemical markers.", "output": {"entities": {"gene": [{"text": "GGT", "start": 54, "end": 57}], "disease": [{"text": "bone resorption", "start": 73, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The SNP (rs3995090) in HTR4 was associated with COPD (adjusted P = 0. 022) in never-smokers, and the SNP (rs2070600) in AGER was associated with forced expiratory volume in 1 s (FEV1%) predicted (β =-0. 066, adjusted P = 0. 016) and FEV1/forced vital capacity (β =-0. 071, adjusted P = 0. 009) in all subjects.", "output": {"entities": {"gene": [{"text": "HTR4", "start": 23, "end": 27}], "disease": [{"text": "vital capacity", "start": 245, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "The accumulated mucin in non-Gottron' s dermatomyositis (DM) lesions is primarily chondroitin-4-sulfate (C4S), which is immunomodulatory in vitro.", "output": {"entities": {"gene": [{"text": "C4S", "start": 105, "end": 108}], "disease": [{"text": "dermatomyositis", "start": 40, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 35, "end": 40}], "disease": [{"text": "paroxysmal kinesigenic dyskinesia", "start": 84, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRRT2", "start": 35, "end": 40}, "tail": {"text": "paroxysmal kinesigenic dyskinesia", "start": 84, "end": 117}}]}}, "schema": []}
{"input": "Our results strongly suggest that defects in the DHCR7 gene cause the SLOS.", "output": {"entities": {"gene": [{"text": "DHCR7", "start": 49, "end": 54}], "disease": [{"text": "SLOS", "start": 70, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DHCR7", "start": 49, "end": 54}, "tail": {"text": "SLOS", "start": 70, "end": 74}}]}}, "schema": []}
{"input": "When integrated with previously published Affymetrix array data from human multiple myelomas, the IL-6-transgenic subset of mouse plasma cell tumors clustered more closely with MM1 subsets of human myelomas, slow-appearing plasma cell tumors clustered together with MM2, while plasma cell tumors accelerated by v-Abl clustered with the more aggressive MM3-MM4 myeloma subsets.", "output": {"entities": {"gene": [{"text": "MM1", "start": 177, "end": 180}], "disease": [{"text": "myeloma", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we found that the expression level of either H19 or miR-675 in P69 cells was negatively associated with the expression of transforming growth factor β induced protein (TGFBI), an extracellular matrix protein involved in cancer metastasis.", "output": {"entities": {"gene": [{"text": "P69", "start": 76, "end": 79}], "disease": [{"text": "metastasis", "start": 240, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, 19% of patients with haemophilia with B19 PCR negative synovial tissue and 21% of controls showed anti-NS1 antibodies.", "output": {"entities": {"gene": [{"text": "B19", "start": 57, "end": 60}], "disease": [{"text": "haemophilia", "start": 40, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Protease activated receptor-2 (PAR-2) has been implicated in cellular proliferation, invasion and metastasis with angiogenesis in various tumors.", "output": {"entities": {"gene": [{"text": "PAR", "start": 31, "end": 34}], "disease": [{"text": "metastasis", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "There is a plethora of studies examining the pro-tumorigenic functions of carcinoembryonic antigen (CEA), but its receptor CEAR is far less studied.", "output": {"entities": {"gene": [{"text": "CEA", "start": 100, "end": 103}], "disease": [{"text": "plethora", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "These results imply that subchronic MK-801 administration during adolescence might disturb the expression of RhoA, Rac1 and Cdc42 mRNA, and then lead to the decay of the spines in hippocampus, which could be involved in cognitive impairments in schizophrenia.", "output": {"entities": {"gene": [{"text": "Cdc42", "start": 124, "end": 129}], "disease": [{"text": "schizophrenia", "start": 245, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cdc42", "start": 124, "end": 129}, "tail": {"text": "schizophrenia", "start": 245, "end": 258}}]}}, "schema": []}
{"input": "We demonstrated that rosiglitazone, a synthetic agonist of the peroxisome proliferator-activated receptor-γ (PPARγ), attenuated hypoxia-induced pulmonary hypertension, vascular remodeling, Nox4 induction, and reactive oxygen species generation in the mouse lung.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 109, "end": 114}], "disease": [{"text": "hypoxia", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Based on these data, we postulate that increased axonal mRNA transport results in accumulation of functional NaV1. 8 protein in the injured nerve and the development of painful neuropathy symptoms.", "output": {"entities": {"gene": [{"text": "NaV1. 8", "start": 109, "end": 116}], "disease": [{"text": "neuropathy", "start": 177, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Nonsyndromic cleft lip and palate (CLP) is among the most common human birth defects.", "output": {"entities": {"gene": [{"text": "CLP", "start": 35, "end": 38}], "disease": [{"text": "birth defects", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, SNAT2 not only regulates mTOR but also regulates proteolysis through PI3K and provides a link among acidosis, insulin resistance, and protein wasting in skeletal muscle cells.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 84, "end": 88}], "disease": [{"text": "insulin resistance", "start": 125, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We tested the ability of a mutant FOXO1 factor that is not subject to Akt phosphorylation to overcome dysregulated PI3K-Akt signaling in two PTEN-null glioma cell lines, U87 and U251.", "output": {"entities": {"gene": [{"text": "U87", "start": 170, "end": 173}], "disease": [{"text": "glioma", "start": 151, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The Fat Mass and Obesity-Associated Protein (FTO) gene rs9939609 single nucleotide polymorphism (SNP) has been associated with obesity, metabolic syndrome, insulin resistance (IR), and type 2 diabetes mellitus in the general population.", "output": {"entities": {"gene": [{"text": "FTO", "start": 45, "end": 48}], "disease": [{"text": "insulin resistance", "start": 156, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The erythrocyte sedimentation rate and concentrations of serum IgA and serum beta2 microglobulin were lower in pSS patients carrying the IL4-590 T allele or the IL13 + 2044 A allele than in those not carrying the respective alleles.", "output": {"entities": {"gene": [{"text": "IL13", "start": 161, "end": 165}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 4, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We investigated the extent of, and basis for, abnormalities in the flicker electroretinogram (ERG) of the cone system of patients with X-linked retinoschisis (XLRS), a form of hereditary vitreoretinal degeneration.", "output": {"entities": {"gene": [{"text": "ERG", "start": 94, "end": 97}], "disease": [{"text": "abnormalities", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the cationic trypsinogen in hereditary pancreatitis.", "output": {"entities": {"gene": [{"text": "cationic trypsinogen", "start": 17, "end": 37}], "disease": [{"text": "hereditary pancreatitis", "start": 41, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cationic trypsinogen", "start": 17, "end": 37}, "tail": {"text": "hereditary pancreatitis", "start": 41, "end": 64}}]}}, "schema": []}
{"input": "EGFR inhibition or activation strongly affected 231-BR cell migration/invasion activities as assessed by an adhesion assay, a wound-healing assay, a Boyden chamber invasion assay, and cytoskeleton staining.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "adhesion", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In this study, U87 cells (a human glioma cell line) and primary glioma cells were prepared.", "output": {"entities": {"gene": [{"text": "U87", "start": 15, "end": 18}], "disease": [{"text": "glioma", "start": 34, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In this study, we have conducted a single-strand conformation polymorphism (SSCP) analysis of the entire coding region of FGD1 in 46 AAS patients and identified eight novel mutations, including one insertion, four deletions and three missense mutations (19. 56% detection rate).", "output": {"entities": {"gene": [{"text": "FGD1", "start": 122, "end": 126}], "disease": [{"text": "AAS", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGD1", "start": 122, "end": 126}, "tail": {"text": "AAS", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "The majority of HBP/vigilin-expressing macrophages were foam cells, but HBP/vigilin expression also was detected rarely in nonfoam cell macrophages.", "output": {"entities": {"gene": [{"text": "vigilin", "start": 20, "end": 27}], "disease": [{"text": "foam cells", "start": 56, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Treatment of PHC markedly decreased TNF-α, IL-6, NOx, SOD, MDA content, protein concentration in BALF, and lung wet/dry weight ratio and enhanced SOD activity (p < 0. 05), which are indicative of PHC-induced suppression in the pathogenesis of ARDS caused by sepsis.", "output": {"entities": {"gene": [{"text": "PHC", "start": 13, "end": 16}], "disease": [{"text": "sepsis", "start": 258, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "These findings support a novel paradigm in which WT1 induces an epithelial-mesenchymal hybrid transition (EMHT), characterized by Snail up-regulation with E-cadherin maintenance, a tumor cell differentiation state in which cancer cells keep both EMT and MET characteristics which may promote tumor cell plasticity and tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 246, "end": 249}], "disease": [{"text": "tumor progression", "start": 318, "end": 335}]}, "relations": {}}, "schema": []}
{"input": "It was suggested that TGF-beta2, PCNA and FN might take important parts in the process of age-related cataract.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 33, "end": 37}], "disease": [{"text": "age-related cataract", "start": 90, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "More over, BCC1 cells overexpress the basal cell carcinoma-specific genes ptch and ptch2.", "output": {"entities": {"gene": [{"text": "ptch2", "start": 83, "end": 88}], "disease": [{"text": "basal cell carcinoma", "start": 38, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Acting in multiple central processes like double-strand break repair, centrosome replication, and checkpoint control, BRCA1 participates in maintaining genomic integrity and protects the cell against genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 118, "end": 123}], "disease": [{"text": "genomic instability", "start": 200, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "In hippocampus, lower mRNA levels of TrkA and TrkC were observed in suicide subjects.", "output": {"entities": {"gene": [{"text": "TrkC", "start": 46, "end": 50}], "disease": [{"text": "suicide", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Expression of vascular endothelial growth factor (VEGF) is up-regulated during hypoxia by hypoxia-inducible factor-1α (HIF-1α).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 50, "end": 54}], "disease": [{"text": "hypoxia", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "This study supports an active role for PLZF and RARalpha-PLZF in leukemogenesis, identifies up-regulation of CRABPI as a mechanism contributing to retinoid resistance, and reveals the ability of the reciprocal fusion gene products to mediate distinct epigenetic effects contributing to the leukemic phenotype.", "output": {"entities": {"gene": [{"text": "CRABPI", "start": 109, "end": 115}], "disease": [{"text": "leukemogenesis", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The highest rates of somatic, non-synonymous mutations were found in GNG10 and GNAZ, neither of which has been previously reported to be mutated in melanoma.", "output": {"entities": {"gene": [{"text": "GNAZ", "start": 79, "end": 83}], "disease": [{"text": "melanoma", "start": 148, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Here we used NPSR1 gene-targeted mice to define the functional role of NPSR1 under basal conditions on locomotion, anxiety-and/or depression-like behavior, corticosterone levels, acoustic startle with prepulse inhibition, learning and memory, and under NPS-induced locomotor activation, anxiolysis, and corticosterone release.", "output": {"entities": {"gene": [{"text": "NPS", "start": 13, "end": 16}], "disease": [{"text": "depression", "start": 130, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPS", "start": 13, "end": 16}, "tail": {"text": "depression", "start": 130, "end": 140}}]}}, "schema": []}
{"input": "FDRs had significantly lower VO (2max) than control subjects: 40. 5 +/-0. 6 vs. 45. 2 +/-0. 9 ml O (2)/kg lean body mass, P = 0. 01 after adjusting for sex, age, BMI, HPA, and insulin sensitivity (euglycemic-hyperinsulinemic clamp).", "output": {"entities": {"gene": [{"text": "HPA", "start": 167, "end": 170}], "disease": [{"text": "insulin sensitivity", "start": 176, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "These data correlate with our previous findings that pro-EGF gene expression is decreased in human renal carcinoma and support the concept that low-molecular-weight urinary EGF is derived from high-molecular-weight kidney pro-EGF.", "output": {"entities": {"gene": [{"text": "EGF", "start": 57, "end": 60}], "disease": [{"text": "weight", "start": 158, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Among particular gene polymorphisms posited to be involved in psychiatric disorders, the catecholamine-O-methyltransferase (COMT) and serotonin transporter (5-HTTPR) genes have been the focus of recent research on aggression.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 134, "end": 155}], "disease": [{"text": "aggression", "start": 214, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Multiple iPS cell lines were also generated from peripheral blood CD34 (+) cells of 2 patients with myeloproliferative disorders (MPDs) who acquired the JAK2-V617F somatic mutation in their blood cells.", "output": {"entities": {"gene": [{"text": "CD34", "start": 66, "end": 70}], "disease": [{"text": "somatic mutation", "start": 164, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "We conclude that FISH would refine the analysis of N-myc amplification in neuroblastoma and thus improve the assignment of patients to prognostic groups based on this unfavorable risk factor.", "output": {"entities": {"gene": [{"text": "FISH", "start": 17, "end": 21}], "disease": [{"text": "neuroblastoma", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Here we identify MUSK as a novel cause of lethal FADS.", "output": {"entities": {"gene": [{"text": "MUSK", "start": 17, "end": 21}], "disease": [{"text": "FADS", "start": 49, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MUSK", "start": 17, "end": 21}, "tail": {"text": "FADS", "start": 49, "end": 53}}]}}, "schema": []}
{"input": "Clinicopathological study indicated that R-cadherin was dominantly expressed on cell surface of normal gastric epithelium, and its expression deletion in gastric cancer tissues was associated with tumor site, differentiation, lymph node metastasis, and pTNM (chi-square test, P < 0. 05).", "output": {"entities": {"gene": [{"text": "R-cadherin", "start": 41, "end": 51}], "disease": [{"text": "lymph node metastasis", "start": 226, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "In addition, we detect increased Pak1 phosphorylation in human atherosclerotic arteries, suggesting its role in human atherogenesis.", "output": {"entities": {"gene": [{"text": "Pak1", "start": 33, "end": 37}], "disease": [{"text": "atherogenesis", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "A break point 184 kb upstream of the paternally derived IGF2 gene, separating it from some telomeric enhancers, resulted in reduced expression in some mesoderm-derived adult tissues causing intrauterine growth retardation, short stature, lactation failure, and insulin resistance with altered fat distribution.", "output": {"entities": {"gene": [{"text": "IGF2 gene", "start": 56, "end": 65}], "disease": [{"text": "insulin resistance", "start": 261, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "The mutator pathway implied in the development of colorectal cancer is characterized by microsatellite instability (MSI), which is determined by alterations of mismatch repair (MMR) genes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 177, "end": 180}], "disease": [{"text": "microsatellite instability", "start": 88, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that mutations affecting the ligand binding domain of the androgen receptor are the most frequent cause of AIS, although some cases of PAIS may be the result of other, as yet undefined, genetic lesions.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 80, "end": 97}], "disease": [{"text": "AIS", "start": 129, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 80, "end": 97}, "tail": {"text": "AIS", "start": 129, "end": 132}}]}}, "schema": []}
{"input": "Increased expression of CYSLTR1 with CYLSTR1 and CYSLTR2 polymorphisms are new findings in AIA, while the ALOX5 promoter polymorphism has been noted in AIU.", "output": {"entities": {"gene": [{"text": "CYSLTR1", "start": 24, "end": 31}], "disease": [{"text": "AIA", "start": 91, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYSLTR1", "start": 24, "end": 31}, "tail": {"text": "AIA", "start": 91, "end": 94}}]}}, "schema": []}
{"input": "Cell adhesion molecule abnormalities such as those involving CDH1 may play an important role in diffuse-type gastric cancer development.", "output": {"entities": {"gene": [{"text": "CDH1", "start": 61, "end": 65}], "disease": [{"text": "abnormalities", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In contrast, EphB4 mRNA expression was modulated during normal retinal development and was altered by hyperoxia.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 13, "end": 18}], "disease": [{"text": "hyperoxia", "start": 102, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we found that higher levels of ASPP1 were associated with adenovirus-mediated overexpression of E2F1 while siRNA-mediated E2F1 knockdown led to down-regulation of ASPP1.", "output": {"entities": {"gene": [{"text": "ASPP1", "start": 44, "end": 49}], "disease": [{"text": "adenovirus", "start": 71, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We present here for the first time quantitative data on the mineral density of bones of pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K. The elevated bone mineral density in the cortex and the changes in the serum markers suggest an effect of cathepsin K not only on bone volume, but also on bone mineralization.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 156, "end": 167}], "disease": [{"text": "bone mineral density", "start": 182, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "With locus-specific FISH, NAV3 deletions were found in the skin lesions of four of eight (50%) patients with early mycosis fungoides (stages IA-IIA) and in the skin or lymph node of 11 of 13 (85%) patients with advanced mycosis fungoides or Sézary syndrome.", "output": {"entities": {"gene": [{"text": "FISH", "start": 20, "end": 24}], "disease": [{"text": "skin lesions", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We showed that Foxp3 (+) Treg depletion induced partial regression of established ovalbumin (OVA)-expressing B16 melanoma, which was associated with an increased intratumoral accumulation of activated CD8 (+) cytotoxic T cells.", "output": {"entities": {"gene": [{"text": "Foxp3", "start": 15, "end": 20}], "disease": [{"text": "regression", "start": 56, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Transcripts for IL-10 were detected in 11/20 patients with non-progressive disease.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 16, "end": 21}], "disease": [{"text": "non-progressive", "start": 59, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The Spanish HPP consortium has developed a B/D platform with five programs focused on selected medical areas: cancer, obesity, cardiovascular, infectious and rheumatic diseases.", "output": {"entities": {"gene": [{"text": "HPP", "start": 12, "end": 15}], "disease": [{"text": "obesity", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The PLXNA2 ligand semaphorin 3A has been shown to be upregulated in the cerebellum of individuals with schizophrenia.", "output": {"entities": {"gene": [{"text": "semaphorin 3A", "start": 18, "end": 31}], "disease": [{"text": "schizophrenia", "start": 103, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "semaphorin 3A", "start": 18, "end": 31}, "tail": {"text": "schizophrenia", "start": 103, "end": 116}}]}}, "schema": []}
{"input": "Although breast cancer screening with mammography and magnetic resonance imaging (MRI) is recommended for breast cancer-susceptibility gene (BRCA) mutation carriers, there is no current consensus on the optimal screening regimen.", "output": {"entities": {"gene": [{"text": "MRI", "start": 82, "end": 85}], "disease": [{"text": "breast cancer", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "The strongest evidence for a role of EGFR in the biology of glioblastoma stems from clinical trials in which 15-20% of recurrent glioblastoma patients experienced significant tumour regression in response to these small-molecule EGFR kinase inhibitors.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 37, "end": 41}], "disease": [{"text": "regression", "start": 182, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Using ChIP-chip analysis, we identified cell migration and adhesion genes, including Tsp-1/THBS1, ING4, PVRL3, and PPAP2B, as Myc-bound loci in medulloblastoma cells.", "output": {"entities": {"gene": [{"text": "PPAP2B", "start": 115, "end": 121}], "disease": [{"text": "medulloblastoma", "start": 144, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "These results showed that ErbB3 but not Fgfr1 mRNA levels were reduced in leukocytes of MDD patients compared to healthy subjects.", "output": {"entities": {"gene": [{"text": "Fgfr1", "start": 40, "end": 45}], "disease": [{"text": "MDD", "start": 88, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Fgfr1", "start": 40, "end": 45}, "tail": {"text": "MDD", "start": 88, "end": 91}}]}}, "schema": []}
{"input": "The genotype and allele frequencies of the MTR Asp919Gly, MTHFR Ala222Val, MTHFD1 Arg653Gln and MTRR Ile22Met gene variants did not display statistical differences between patients with cervical cancer and controls.", "output": {"entities": {"gene": [{"text": "MTHFD1", "start": 75, "end": 81}], "disease": [{"text": "cervical cancer", "start": 186, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Whether hypoxia can induce EMT by stimulating RPE cell line secrets TGF-β2 or not remains unknown.", "output": {"entities": {"gene": [{"text": "RPE", "start": 46, "end": 49}], "disease": [{"text": "hypoxia", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "In this study, by using polymerase chain reaction and fluorescence in situ hybridization techniques, we have showed that there is neither t (14; 18)/IGH-BCL2 nor IGH gene rearrangement in 4 de novo IDCS without a concurrent or known history of a B-cell lymphoma, including follicular lymphoma, indicating that BCL2 chromosomal translocation is not a general feature of de novo IDCS.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 153, "end": 157}], "disease": [{"text": "chromosomal translocation", "start": 315, "end": 340}]}, "relations": {}}, "schema": []}
{"input": "Expression analysis of all protease genes reveals cathepsin K to be overexpressed in glioblastoma.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 50, "end": 61}], "disease": [{"text": "glioblastoma", "start": 85, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cathepsin K", "start": 50, "end": 61}, "tail": {"text": "glioblastoma", "start": 85, "end": 97}}]}}, "schema": []}
{"input": "EPHX1 and GSTP1 variants contribute to the occurrence of childhood asthma and increase asthma susceptibility to exposures from major roads.", "output": {"entities": {"gene": [{"text": "EPHX1", "start": 0, "end": 5}], "disease": [{"text": "asthma susceptibility", "start": 87, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "MALT1 is deregulated by both chromosomal translocation and amplification in B-cell non-Hodgkin lymphoma.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 0, "end": 5}], "disease": [{"text": "chromosomal translocation", "start": 29, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our results indicated that BMP9/ALK1 augmented vasculogenesis and angiogenesis, and thereby enhanced neovascularization.", "output": {"entities": {"gene": [{"text": "BMP9", "start": 41, "end": 45}], "disease": [{"text": "neovascularization", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "PTEN inactivation may potentially lead to an aggressive behavior of tumor cells through stimulation of tumor cell proliferation.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 0, "end": 4}], "disease": [{"text": "aggressive behavior", "start": 45, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "C20-D3-vitamin A slows lipofuscin accumulation and electrophysiological retinal degeneration in a mouse model of Stargardt disease.", "output": {"entities": {"gene": [{"text": "Stargardt disease", "start": 113, "end": 130}], "disease": [{"text": "retinal degeneration", "start": 72, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The presence of PAX3-FOXO1 in SNS and alveolar rhabdomyosarcoma suggests that these two entities are genetically similar lesions arising from distinct progenitor cell pools.", "output": {"entities": {"gene": [{"text": "SNS", "start": 30, "end": 33}], "disease": [{"text": "alveolar rhabdomyosarcoma", "start": 38, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Further, several genome scans for mood disorders, both unipolar and bipolar, have indicated linkage to the chromosomal regions of 5q23-q33. 3, 8p12-p11. 2, 4p16, and 10q24-q26, the location of the adrenergic receptors alpha1B (ADRA1B), beta3 (ADRB3), alpha2C (ADRA2C), alpha2A (ADRA2A), and beta1 (ADRB1).", "output": {"entities": {"gene": [{"text": "ADRA2C", "start": 260, "end": 266}], "disease": [{"text": "mood disorders", "start": 34, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADRA2C", "start": 260, "end": 266}, "tail": {"text": "mood disorders", "start": 34, "end": 48}}]}}, "schema": []}
{"input": "In contrast to AAV-mediated Cntf expression, AAV-mediated Gdnf expression enhances gene replacement therapy in rodent models of retinal degeneration.", "output": {"entities": {"gene": [{"text": "AAV", "start": 15, "end": 18}], "disease": [{"text": "retinal degeneration", "start": 128, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Unlike cancers, wounds naturally resolve via blood vessel regression and ECM maturation, which are essential for reestablishing tissue homeostasis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 73, "end": 76}], "disease": [{"text": "regression", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We investigated the effects of Nov overexpression by transducing murine ST-2 stromal and MC3T3 osteoblastic cells with a retroviral vector where Nov is under the control of the cytomegalovirus promoter.", "output": {"entities": {"gene": [{"text": "ST-2", "start": 72, "end": 76}], "disease": [{"text": "cytomegalovirus", "start": 177, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "In 1833 cells, TGF-β and hypoxia increased Endothelin-1 release, altogether reducing invasiveness important for engraftment, while Endothelin-1 enhanced MDA-MB231 cell invasiveness.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 15, "end": 20}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) (MIM #604004) is a rare autosomal recessive neurological disorder characterized by macrocephaly, motor and cognitive decline, ataxia, spasticity and occasional seizures.", "output": {"entities": {"gene": [{"text": "MIM", "start": 66, "end": 69}], "disease": [{"text": "neurological disorder", "start": 109, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "AR HIBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) on chromosome 9p12-13.", "output": {"entities": {"gene": [{"text": "UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "start": 44, "end": 106}], "disease": [{"text": "HIBM", "start": 3, "end": 7}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase", "start": 44, "end": 106}, "tail": {"text": "HIBM", "start": 3, "end": 7}}]}}, "schema": []}
{"input": "To improve detection of DNA aneuploid subpopulations and particularly estimation of their SPF' s we investigated a method for bivariate DNA/cytokeratin analysis on fine-needle aspirates of 728 frozen biopsies from 157 colorectal tumors.", "output": {"entities": {"gene": [{"text": "SPF' s", "start": 90, "end": 96}], "disease": [{"text": "colorectal tumors", "start": 218, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Both in Barett' s metaplasia and in SCC the expression of MUC5AC mirrors the TFF1 synthesis in intensity and spatial distribution.", "output": {"entities": {"gene": [{"text": "MUC5AC", "start": 58, "end": 64}], "disease": [{"text": "metaplasia", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "To dissect the potential role of Cdh1/APC in tumorigenesis through the degradation of Skp2, we analyzed the Cdh1/APC-Skp2-p27 axis in colorectal tumorigenesis using a human tumor array and biochemical analyses.", "output": {"entities": {"gene": [{"text": "p27", "start": 122, "end": 125}], "disease": [{"text": "tumorigenesis", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Given the biological role of the neuronal nicotinic acetylcholine receptors and the substantial comorbidity of nicotine dependence in psychiatric disorders, the CHRNA2 gene is a plausible candidate gene for bipolar disorder (BPD).", "output": {"entities": {"gene": [{"text": "CHRNA2", "start": 161, "end": 167}], "disease": [{"text": "bipolar disorder", "start": 207, "end": 223}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNA2", "start": 161, "end": 167}, "tail": {"text": "bipolar disorder", "start": 207, "end": 223}}]}}, "schema": []}
{"input": "We studied a family with autosomal dominant MED affecting predominantly the knee joints and a mild proximal myopathy.", "output": {"entities": {"gene": [{"text": "MED", "start": 44, "end": 47}], "disease": [{"text": "mild", "start": 94, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Growth-suppressing function of glypican-3 (GPC3) via insulin like growth factor II (IGF-II) signaling pathway in ovarian clear cell carcinoma cells.", "output": {"entities": {"gene": [{"text": "IGF-II", "start": 84, "end": 90}], "disease": [{"text": "clear cell carcinoma", "start": 121, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Three cervical cancer cell lines with extremely low level of RAR-beta2 mRNA expression, SiHA, HeLA and CaSki, also showed methylation of this region of the RAR-beta2 gene.", "output": {"entities": {"gene": [{"text": "RAR", "start": 61, "end": 64}], "disease": [{"text": "cervical cancer", "start": 6, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The TAM family of receptor tyrosine kinases (TYRO3, AXL and MERTK) have been implicated as important players during demyelination in both animal models of MS and in the human disease.", "output": {"entities": {"gene": [{"text": "AXL", "start": 52, "end": 55}], "disease": [{"text": "demyelination", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Androgen insensitivity syndrome is an X-linked disorder of sexual differentiation resulting from abnormalities of the androgen receptor gene.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 118, "end": 135}], "disease": [{"text": "Androgen insensitivity syndrome", "start": 0, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 118, "end": 135}, "tail": {"text": "Androgen insensitivity syndrome", "start": 0, "end": 31}}]}}, "schema": []}
{"input": "Overexpression of Sall1 in vivo leads to reduced body weight without affecting kidney development.", "output": {"entities": {"gene": [{"text": "Sall1", "start": 18, "end": 23}], "disease": [{"text": "body weight", "start": 49, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "SOX2 overexpression correlates with aggressive behavior and poor overall survival in cholangiocarcinoma (CCA).", "output": {"entities": {"gene": [{"text": "SOX2", "start": 0, "end": 4}], "disease": [{"text": "aggressive behavior", "start": 36, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We have studied the coding regions of the DCX gene in 11 Japanese patients with cortical dysplasia and have identified three different mutations (R186C in exon 3, R272X and R303X in exon 5) in four sporadic female cases.", "output": {"entities": {"gene": [{"text": "DCX gene", "start": 42, "end": 50}], "disease": [{"text": "sporadic", "start": 198, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "LIF secretion and LIFR expression were assessed in established and primary human cholangiocarcinoma cell lines.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 18, "end": 22}], "disease": [{"text": "cholangiocarcinoma", "start": 81, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Pharmacological doses of rhGH can increase R (T) and GHR mRNA expression, ameliorate liver functions, repress fibrosis and decline portal hypertension, suggesting it has potentially clinical usage as a hepatotropic factor.", "output": {"entities": {"gene": [{"text": "GHR", "start": 53, "end": 56}], "disease": [{"text": "portal hypertension", "start": 131, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In MD, a recurrent P799L mutation was identified in nine subjects, as well as 10 novel mutations including F471del, the first deletion mutation of TRPV4.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 147, "end": 152}], "disease": [{"text": "MD", "start": 3, "end": 5}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPV4", "start": 147, "end": 152}, "tail": {"text": "MD", "start": 3, "end": 5}}]}}, "schema": []}
{"input": "Angiotensin II appears to increase sensitivity to heat by an ischaemic mechanism, whereas an additional non-vascular influence contributes to thermal hyperalgesia induced by noradrenaline and vasopressin.", "output": {"entities": {"gene": [{"text": "Angiotensin II", "start": 0, "end": 14}], "disease": [{"text": "thermal hyperalgesia", "start": 142, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angiotensin II", "start": 0, "end": 14}, "tail": {"text": "thermal hyperalgesia", "start": 142, "end": 162}}]}}, "schema": []}
{"input": "Contribution of Common Variants in GABRG2, RELN and NRG3 and Interaction Networks to the Risk of Hirschsprung Disease.", "output": {"entities": {"gene": [{"text": "RELN", "start": 43, "end": 47}], "disease": [{"text": "Hirschsprung Disease", "start": 97, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RELN", "start": 43, "end": 47}, "tail": {"text": "Hirschsprung Disease", "start": 97, "end": 117}}]}}, "schema": []}
{"input": "The present results support the hypothesis that immediate hypotension induced by captopril involves a prostaglandin-dependent component possibly resulting from increased bradykinin levels generated in the vicinity of captopril action.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 170, "end": 180}], "disease": [{"text": "hypotension", "start": 58, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 170, "end": 180}, "tail": {"text": "hypotension", "start": 58, "end": 69}}]}}, "schema": []}
{"input": "Thus, the 5-HT (4) receptor binding was decreased in the Flinders Sensitive Line depression model and in response to chronic paroxetine administration.", "output": {"entities": {"gene": [{"text": "5-HT (4", "start": 10, "end": 17}], "disease": [{"text": "depression", "start": 81, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (4", "start": 10, "end": 17}, "tail": {"text": "depression", "start": 81, "end": 91}}]}}, "schema": []}
{"input": "Methods We screened for mutations in the coding and promoter regions of genes in the TNF-LTA region, including BAT1, NFKBIL1, LTA, TNF, LTB, AIF, and BAT2, and conducted a transmission disequilibrium test of 41 polymorphisms in 137 families identified through pro-bands with childhood-onset atopic asthma.", "output": {"entities": {"gene": [{"text": "AIF", "start": 141, "end": 144}], "disease": [{"text": "atopic asthma", "start": 291, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "Identification of RP1L1 mutations as causative for OMD has potentially broader implications for understanding the differential cone photoreceptor functions in the fovea and the peripheral retina.", "output": {"entities": {"gene": [{"text": "RP1L1", "start": 18, "end": 23}], "disease": [{"text": "OMD", "start": 51, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RP1L1", "start": 18, "end": 23}, "tail": {"text": "OMD", "start": 51, "end": 54}}]}}, "schema": []}
{"input": "Given that mucosal surfaces are particularly prone to hypoxia-elicited inflammation, we sought to determine the function of netrin-1 in hypoxia-induced inflammation.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 124, "end": 132}], "disease": [{"text": "hypoxia", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We propose that in some cases of trisomy for the SHOX gene, the effect of overdosage per se may affect the stature, even in patients with preserved ovarian function (case 1), and that estrogen deprivation may not always be a contributor for tall stature (case 2).", "output": {"entities": {"gene": [{"text": "SHOX gene", "start": 49, "end": 58}], "disease": [{"text": "tall stature", "start": 241, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "To determine the degree of agreement between fluorescence in situ hybridization (FISH), Southern blot analysis and LightCycler monoplex polymerase chain reaction (PCR) analysis in the assessment of NMYC gene amplification status in neuroblastoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 81, "end": 85}], "disease": [{"text": "neuroblastoma", "start": 232, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.", "output": {"entities": {"gene": [{"text": "IFT122", "start": 69, "end": 75}], "disease": [{"text": "Beemer-Langer syndrome", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT122", "start": 69, "end": 75}, "tail": {"text": "Beemer-Langer syndrome", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "We present the first report of PTH-induced mild, asymptomatic, normochromic normocytic anemia in a postmenopausal woman treated sequentially with PTH 1-84 and PTH 1-34.", "output": {"entities": {"gene": [{"text": "PTH", "start": 31, "end": 34}], "disease": [{"text": "mild", "start": 43, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Noteworthy, none of the patients who developed H/PF4 antibodies had heparin-induced thrombocytopenia or a thromboembolic event.", "output": {"entities": {"gene": [{"text": "PF4", "start": 49, "end": 52}], "disease": [{"text": "thromboembolic event", "start": 106, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Akt2 and nucleophosmin/B23 function as an oncogenic unit in human lung cancer cells.", "output": {"entities": {"gene": [{"text": "B23", "start": 23, "end": 26}], "disease": [{"text": "lung cancer", "start": 66, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The activity of IDO and TDO in cervical mucus was not significantly different between the delivery group and the miscarriage group, and between the normal chromosome group and abnormal chromosome group.", "output": {"entities": {"gene": [{"text": "IDO", "start": 16, "end": 19}], "disease": [{"text": "miscarriage", "start": 113, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "This study examines interactions of a mutation in Pax3, embryonic sex, advanced maternal age, and arsenite exposure in the splotch (Sp) mouse model, with the aim of describing gene-environment interactions for neural tube defects and embryonic lethality.", "output": {"entities": {"gene": [{"text": "Pax3", "start": 50, "end": 54}], "disease": [{"text": "neural tube defects", "start": 210, "end": 229}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Pax3", "start": 50, "end": 54}, "tail": {"text": "neural tube defects", "start": 210, "end": 229}}]}}, "schema": []}
{"input": "To analyze putative hypoxic induction of CA IX, immunohistochemical staining for HIF-1α and VEGF was performed.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 92, "end": 96}], "disease": [{"text": "hypoxic", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "When patients were stratified by combined CXCL9/ITSN2 or CXCL9/FLJ22028 tumor levels, they exhibited significantly different disease-free survival curves (P = 0. 0073 and P = 0. 005, respectively).", "output": {"entities": {"gene": [{"text": "ITSN2", "start": 48, "end": 53}], "disease": [{"text": "tumor", "start": 72, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In non-neoplastic inflammation, such as gastritis, NOVA1 was highly enriched in T lymphocytes and stromal spindle cells, while expression of this protein was frequently decreased in those types of cells within gastric cancer tissues.", "output": {"entities": {"gene": [{"text": "NOVA1", "start": 51, "end": 56}], "disease": [{"text": "inflammation", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Our results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, FADS, or LMPS of unknown etiology.", "output": {"entities": {"gene": [{"text": "SLC18A3", "start": 50, "end": 57}], "disease": [{"text": "FADS", "start": 133, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC18A3", "start": 50, "end": 57}, "tail": {"text": "FADS", "start": 133, "end": 137}}]}}, "schema": []}
{"input": "In the present study, we examined by RT-PCR the expression of a number of genes encoding CTA in 23 surgical samples of sporadic MTC.", "output": {"entities": {"gene": [{"text": "CTA", "start": 89, "end": 92}], "disease": [{"text": "sporadic", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The androgen receptor gene CAG repeat length showed a low correlation with the increase of prostate weight, suggesting some effect on age-related prostate growth.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 4, "end": 26}], "disease": [{"text": "weight", "start": 100, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Splenectomy, as the intervention method of hypersplenism, is performed less frequently in patients who developed HCC than in patients who did not develop HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 113, "end": 116}], "disease": [{"text": "hypersplenism", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Transactive response DNA-binding protein-43 (TDP-43) has been thought to be generally involved in the pathogenesis of most amyotrophic lateral sclerosis (ALS) patients although it remains undefined how TDP-43 is involved in the ALS pathogenesis.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 21, "end": 40}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 123, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "VEGF levels were higher in NP epithelial cells than those of IT (P < 0. 01) under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The ALG9 defect presented here defines a novel form of CDG named \" CDG-IL. \"", "output": {"entities": {"gene": [{"text": "ALG9", "start": 4, "end": 8}], "disease": [{"text": "CDG-IL", "start": 67, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALG9", "start": 4, "end": 8}, "tail": {"text": "CDG-IL", "start": 67, "end": 73}}]}}, "schema": []}
{"input": "A whole genome expression analysis of peripheral blood mononuclear cells yielded 12 protein-coding genes (ADM, APBB3, CD160, CFD, CITED2, CTSZ, IER5, NFKBIZ, NR4A2, NUCKS1, SERTAD1, TNF) that were differentially expressed between 29 unmedicated depressed patients with a mood disorder (8 bipolar disorder, 21 major depressive disorder) and 24 healthy controls (HCs).", "output": {"entities": {"gene": [{"text": "ADM", "start": 106, "end": 109}], "disease": [{"text": "bipolar disorder", "start": 288, "end": 304}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADM", "start": 106, "end": 109}, "tail": {"text": "bipolar disorder", "start": 288, "end": 304}}]}}, "schema": []}
{"input": "The common variants in the fat mass and obesity-associated (FTO) gene have been associated with obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "FTO", "start": 60, "end": 63}], "disease": [{"text": "insulin resistance", "start": 108, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "While exploring the effects of aerosol IFN-γ treatment in HIV-1/tuberculosis co-infected patients, we observed A to G mutations in HIV-1 envelope sequences derived from bronchoalveolar lavage (BAL) of aerosol IFN-γ-treated patients and induction of adenosine deaminase acting on RNA 1 (ADAR1) in the BAL cells.", "output": {"entities": {"gene": [{"text": "ADAR1", "start": 286, "end": 291}], "disease": [{"text": "tuberculosis", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of CD54, CD18, MHC class II molecules, and proliferating cell nuclear antigen in acute puromycin aminonucleoside nephrosis.", "output": {"entities": {"gene": [{"text": "CD54", "start": 24, "end": 28}], "disease": [{"text": "nephrosis", "start": 134, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD54", "start": 24, "end": 28}, "tail": {"text": "nephrosis", "start": 134, "end": 143}}]}}, "schema": []}
{"input": "Our data suggest that hepatic cystogenesis in autosomal recessive polycystic kidney disease may involve increased fluid accumulation because of overexpression and abnormal location of AQP1, CFTR, and AE2 in cystic cholangiocytes.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 190, "end": 194}], "disease": [{"text": "autosomal recessive polycystic kidney disease", "start": 46, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CFTR", "start": 190, "end": 194}, "tail": {"text": "autosomal recessive polycystic kidney disease", "start": 46, "end": 91}}]}}, "schema": []}
{"input": "Potential therapeutic strategy for oral squamous cell carcinoma by ErbB3-binding protein 1 gene transfer.", "output": {"entities": {"gene": [{"text": "ErbB3-binding protein 1", "start": 67, "end": 90}], "disease": [{"text": "squamous cell carcinoma", "start": 40, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Induction of p53 in response to actinomycin D or hypoxic stress decreases AFP expression.", "output": {"entities": {"gene": [{"text": "AFP", "start": 74, "end": 77}], "disease": [{"text": "hypoxic", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The mutation R25G in exon 1 of LMNA gene we reported here in a Chinese family had a phenotype of malignant arrhythmia and mild LGMD, suggesting that patients with familial DCM, conduction system defects and skeletal muscle dystrophy should be screened by genetic testing for the LMNA gene.", "output": {"entities": {"gene": [{"text": "LMNA gene", "start": 31, "end": 40}], "disease": [{"text": "mild", "start": 122, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "T (3; 14) (p14. 1; q32) involving IGH and FOXP1 is a novel recurrent chromosomal aberration in MALT lymphoma.", "output": {"entities": {"gene": [{"text": "FOXP1", "start": 42, "end": 47}], "disease": [{"text": "MALT lymphoma", "start": 95, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXP1", "start": 42, "end": 47}, "tail": {"text": "MALT lymphoma", "start": 95, "end": 108}}]}}, "schema": []}
{"input": "These findings support the hypothesis that NPS results from a 50% reduction in LMX1B function via a reduction in synthesis, disruption of secondary structure, or failure to bind DNA.", "output": {"entities": {"gene": [{"text": "LMX1B", "start": 79, "end": 84}], "disease": [{"text": "NPS", "start": 43, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMX1B", "start": 79, "end": 84}, "tail": {"text": "NPS", "start": 43, "end": 46}}]}}, "schema": []}
{"input": "Our study identified genes dysregulated in stem and progenitor cells in-7/7q-AML, and suggests that IL1RAP may be a promising therapeutic and prognostic target in AML and high-risk myelodysplastic syndrome.", "output": {"entities": {"gene": [{"text": "IL1RAP", "start": 100, "end": 106}], "disease": [{"text": "myelodysplastic syndrome", "start": 181, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "This interaction is essential for ubiquitylation by CRL3KLHL3 and disease-causing mutations in WNK4 and KLHL3 exert their effects on blood pressure by disrupting this interaction.", "output": {"entities": {"gene": [{"text": "KLHL3", "start": 56, "end": 61}], "disease": [{"text": "blood pressure", "start": 133, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Presence of high-affinity AHR enhanced thymic atrophy and liver hypertrophy in the pups.", "output": {"entities": {"gene": [{"text": "AHR", "start": 26, "end": 29}], "disease": [{"text": "hypertrophy", "start": 64, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AHR", "start": 26, "end": 29}, "tail": {"text": "hypertrophy", "start": 64, "end": 75}}]}}, "schema": []}
{"input": "In organ cultures of human intestine, VCAM-IgG also up-regulates MT1-MMP, and in mucosal ulcers of inflammatory bowel disease patients, MT1-MMP transcripts are abundant, coincident with expression of VCAM-1 on cells at the ulcer margin.", "output": {"entities": {"gene": [{"text": "MT1-MMP", "start": 65, "end": 72}], "disease": [{"text": "ulcer", "start": 89, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "These results introduce agrin as a potential therapeutic target for the treatment of mania and other neurological disorders associated with reduced Na (+), K (+)-ATPase activity and neuronal hyperexcitability.", "output": {"entities": {"gene": [{"text": "ATPase", "start": 162, "end": 168}], "disease": [{"text": "mania", "start": 85, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATPase", "start": 162, "end": 168}, "tail": {"text": "mania", "start": 85, "end": 90}}]}}, "schema": []}
{"input": "To examine whether target delivery of VEGF gene directly into brain may prevent ischemic brain damage, the VEGF expression adenoviral vectors, AVHP. VEGF-with 476bp of the human preproendothelin-1 (ppET-1) promoter and 35bp of the hypoxia-reponse element (HRE) driving VEGF expression and CMV. VEGF were transferred into hypoxic-induced ischemic (HI) rat brains.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 38, "end": 42}], "disease": [{"text": "hypoxic", "start": 321, "end": 328}]}, "relations": {}}, "schema": []}
{"input": "To date we have sequenced all 19 coding exons of the VACM-1/cul5 gene in T47D breast cancer cells, U138MG glioma cells, ACHN renal cancer cells, and OVCAR-3 ovarian cancer cells.", "output": {"entities": {"gene": [{"text": "cul5 gene", "start": 60, "end": 69}], "disease": [{"text": "glioma", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In step wise Cox regression multivariable analysis, hazard ratio for high hemoglobin, WBC count, and coexpression of CD135 and CD117 was 0. 63, 1. 73, and 2. 46 respectively for EFS, and for OS only CD135 + CD117 coexpression emerged as an independent predictor (hazard ratio 2. 25).", "output": {"entities": {"gene": [{"text": "CD117", "start": 127, "end": 132}], "disease": [{"text": "regression", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Patients with epithelial ovarian cancer with tumors with positive macroscopic residual disease and high VEGF gene expression could be potential candidates for anti-VEGF therapy with bevacizumab.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 104, "end": 108}], "disease": [{"text": "residual disease", "start": 78, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The protein levels of VEGF released to the medium was increased (8-fold, p < 0. 01) by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 22, "end": 26}], "disease": [{"text": "hypoxia", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The regulation of Klotho expression by cigarette smoke extract (CSE) was studied in vitro, and small interfering RNA (siRNA) and recombinant Klotho were employed to investigate the role of Klotho on CSE-induced inflammation.", "output": {"entities": {"gene": [{"text": "CSE", "start": 64, "end": 67}], "disease": [{"text": "inflammation", "start": 211, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma.", "output": {"entities": {"gene": [{"text": "FASL", "start": 45, "end": 49}], "disease": [{"text": "esophageal", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "To conclude, no evidence for a role for LKB1 in tumorigenesis of sporadic pancreatic acinar cell carcinoma was found.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 40, "end": 44}], "disease": [{"text": "tumorigenesis", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR-125b-2, let-7c and miR-99a.", "output": {"entities": {"gene": [{"text": "miR-155", "start": 65, "end": 72}], "disease": [{"text": "down syndrome", "start": 40, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-155", "start": 65, "end": 72}, "tail": {"text": "down syndrome", "start": 40, "end": 53}}]}}, "schema": []}
{"input": "A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 36, "end": 42}], "disease": [{"text": "mulibrey nanism", "start": 55, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIM37", "start": 36, "end": 42}, "tail": {"text": "mulibrey nanism", "start": 55, "end": 70}}]}}, "schema": []}
{"input": "Collectively, this study provides a compelling argument that estrogen can potentiate tumor progression by EMT induction and highlights the crucial role of ERalpha in ovarian tumorigenesis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 106, "end": 109}], "disease": [{"text": "tumor progression", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "A small interference RNA (siRNA) targeting EPO or control negative siRNA was injected intravitreally at postnatal (P) day 12, P14, and P15 during the hypoxic phase, and the effect on neovascularization was evaluated in retinal flatmounts at P17.", "output": {"entities": {"gene": [{"text": "P17", "start": 241, "end": 244}], "disease": [{"text": "neovascularization", "start": 183, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The objective response rates (ORR) were 71. 7% in never-smoking ADCC, 25. 0% in ever-smoking ADCC, but no response in SQCC, while those of the patients with EGFR mutant and wild-type ere 85. 7% and 10. 0%, respectively.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 157, "end": 161}], "disease": [{"text": "smoking", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "CCPRCC with variant morphology expressed carbonic anhydrase IX (CA-IX) in cup-shaped distribution.", "output": {"entities": {"gene": [{"text": "carbonic anhydrase IX", "start": 41, "end": 62}], "disease": [{"text": "cup", "start": 74, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "It contains three genes, USP9Y, DBY and UTY, but only the former two can be at present considered candidate genes for the infertile phenotype associated with deletion of this interval.", "output": {"entities": {"gene": [{"text": "DBY", "start": 32, "end": 35}], "disease": [{"text": "infertile", "start": 122, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Our results identify TPEF as a tumor marker that could be useful in the follow-up of gastrointestinal cancer patients or the screening of individuals at risk of developing gastrointestinal neoplasms.", "output": {"entities": {"gene": [{"text": "TPEF", "start": 21, "end": 25}], "disease": [{"text": "gastrointestinal cancer", "start": 85, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of the NOD2 gene revealed a missense mutation (R334W) previously detected in other Blau syndrome pedigrees.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 27, "end": 31}], "disease": [{"text": "Blau syndrome", "start": 103, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOD2", "start": 27, "end": 31}, "tail": {"text": "Blau syndrome", "start": 103, "end": 116}}]}}, "schema": []}
{"input": "The MPI of pterygium fibrovascular tissue was also significantly higher than that of superior conjunctival fibrovascular tissue (6. 0; P = 0. 0001).", "output": {"entities": {"gene": [{"text": "MPI", "start": 4, "end": 7}], "disease": [{"text": "pterygium", "start": 11, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "We performed in situ hybridization to assess hippocampal expression of the transcripts encoding NMDA receptor subunits NR1, 2A, 2B, 2C and 2D, and the transcripts for the NMDA receptor associated PSD proteins PSD95, PSD93, NF-L, and SAP102 in subjects with schizophrenia, bipolar affective disorder I, and a comparison group.", "output": {"entities": {"gene": [{"text": "PSD93", "start": 216, "end": 221}], "disease": [{"text": "bipolar affective disorder", "start": 272, "end": 298}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD93", "start": 216, "end": 221}, "tail": {"text": "bipolar affective disorder", "start": 272, "end": 298}}]}}, "schema": []}
{"input": "All asymptomatic or mildly mentally delayed female carriers studied to date have non-random XCI patterns, suggesting that this attenuates the deleterious effects of the MECP2 mutations in these women.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 169, "end": 174}], "disease": [{"text": "asymptomatic", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Two recent candidate genes, ErbB3 and Fgfr1, are growth factors whose mRNA levels have been found to be altered in the leukocytes of patients that are affected by bipolar disorder in a depressive state.", "output": {"entities": {"gene": [{"text": "Fgfr1", "start": 38, "end": 43}], "disease": [{"text": "bipolar disorder", "start": 163, "end": 179}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Fgfr1", "start": 38, "end": 43}, "tail": {"text": "bipolar disorder", "start": 163, "end": 179}}]}}, "schema": []}
{"input": "Investigation of the role of ANKH in ankylosing spondylitis.", "output": {"entities": {"gene": [{"text": "ANKH", "start": 29, "end": 33}], "disease": [{"text": "spondylitis", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "A highly responsive HepG2/NF-kappaB/luc clone L for 12-O-tetradecanoylphorbol-13-acetate (TPA)-induced tumor promotion inhibited by methotrexate (MTX) was selected by high-throughput bioluminescent imaging (BLI) in vitro.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 26, "end": 35}], "disease": [{"text": "tumor promotion", "start": 103, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Using classification and regression tree analysis (CART) we established two groups of patients according to their RAB25 mRNA level and their risk of death.", "output": {"entities": {"gene": [{"text": "RAB25", "start": 114, "end": 119}], "disease": [{"text": "regression", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Secondary malignant giant-cell tumour of bone: molecular abnormalities of p53 and H-ras gene correlated with malignant transformation.", "output": {"entities": {"gene": [{"text": "p53", "start": 74, "end": 77}], "disease": [{"text": "giant", "start": 20, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The present study was intended to identify common genetic variants responsible for prostate cancer susceptibility in the GEMIN4 gene.", "output": {"entities": {"gene": [{"text": "GEMIN4 gene", "start": 121, "end": 132}], "disease": [{"text": "prostate cancer susceptibility", "start": 83, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Here, we studied mRNA patterns of PACAP, SDF-1 and the cognate receptors PAC1 and CXCR4 by in situ hybridization in the rat hippocampus after transient global ischemia, a rat model for programmed death of CA1 pyramidal neurons.", "output": {"entities": {"gene": [{"text": "PAC1", "start": 73, "end": 77}], "disease": [{"text": "ischemia", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Our present study suggests that p34 (SEI-1) can promote metastasis by enhancing migration and invasion of cancer cells.", "output": {"entities": {"gene": [{"text": "p34", "start": 32, "end": 35}], "disease": [{"text": "metastasis", "start": 56, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVES: To assess the contribution of inherited variants in genes involved in base excision repair and oxidative DNA damage including MUTYH, OGG1, NEIL1, NEIL2, NEIL3, NUDT1 and NTH1 to the multiple colorectal adenoma phenotype.", "output": {"entities": {"gene": [{"text": "NEIL1", "start": 151, "end": 156}], "disease": [{"text": "colorectal adenoma", "start": 203, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "In summary, our findings support the conclusions that BMP2 is the causing gene for BDA2, that the genomic location corresponding to the duplication region is prone to structural changes associated with malformation of the digits, and that this tendency is probably caused by the abundance of microhomologous sequences in the region.", "output": {"entities": {"gene": [{"text": "BMP2", "start": 54, "end": 58}], "disease": [{"text": "BDA2", "start": 83, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMP2", "start": 54, "end": 58}, "tail": {"text": "BDA2", "start": 83, "end": 87}}]}}, "schema": []}
{"input": "Moreover, activation of caspase-3 and-8 and the cytoplasmic translocation of mitochondrial cytochrome c were evident upon CUG2 expression.", "output": {"entities": {"gene": [{"text": "CUG2", "start": 122, "end": 126}], "disease": [{"text": "translocation", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In colon cancer, the frequently mutated K-ras oncogene also can regulate VEGF expression, but the role that K-ras may play in hypoxia is unknown.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 73, "end": 77}], "disease": [{"text": "hypoxia", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We investigated the Tregs frequency in patients with multiple myeloma (MM) and in those with monoclonal gammopathy of undetermined significance (MGUS), and found that CD4 (+) FoxP3 (+) and CD8 (+) FoxP3 (+) Tregs were significantly increased in patients with MM and correlated with the active phase.", "output": {"entities": {"gene": [{"text": "CD8", "start": 189, "end": 192}], "disease": [{"text": "monoclonal gammopathy of undetermined significance", "start": 93, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The authors investigated the role of FXR expression and activity in esophageal cancer initiation and growth.", "output": {"entities": {"gene": [{"text": "FXR", "start": 37, "end": 40}], "disease": [{"text": "esophageal cancer", "start": 68, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "This new neurological disease, early-onset leukoencephalopathy with thalamus and brainstem involvement and high lactate, is hallmarked by unique magnetic resonance imaging features, defined by a peculiar biphasic clinical course and caused by mutations in a single gene, EARS2, expanding the list of medically relevant defects of mitochondrial DNA translation.", "output": {"entities": {"gene": [{"text": "EARS2", "start": 271, "end": 276}], "disease": [{"text": "leukoencephalopathy with thalamus and brainstem involvement and high lactate", "start": 43, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EARS2", "start": 271, "end": 276}, "tail": {"text": "leukoencephalopathy with thalamus and brainstem involvement and high lactate", "start": 43, "end": 119}}]}}, "schema": []}
{"input": "Improved analysis of C26: 0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening.", "output": {"entities": {"gene": [{"text": "ESI", "start": 100, "end": 103}], "disease": [{"text": "blood spots", "start": 61, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Further, over expression of hPrp4 (Pro315Leu), but not hPrp4 (WT), triggered systemic deformities in wild-type zebrafish embryos with the retina primarily affected, and dramatically augmented death rates in morphant embryos, in which orthologous zebrafish prpf4 gene was silenced.", "output": {"entities": {"gene": [{"text": "hPrp4", "start": 28, "end": 33}], "disease": [{"text": "deformities", "start": 86, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The present study was undertaken to evaluate and compare the performance of a heat-denatured signal-amplified p24 assay for the determination of p24 viral load in the plasma of individuals infected with different subtypes of HIV-1 and using the RT-PCR-based RNA viral load test as the gold standard.", "output": {"entities": {"gene": [{"text": "p24", "start": 110, "end": 113}], "disease": [{"text": "viral load", "start": 149, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The combined frequencies of IL-10 A/T/A haplotype and TNF-alpha G-G genotype were significantly increased in SLE patients.", "output": {"entities": {"gene": [{"text": "IL-10 A", "start": 28, "end": 35}], "disease": [{"text": "SLE", "start": 109, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IL-10 A", "start": 28, "end": 35}, "tail": {"text": "SLE", "start": 109, "end": 112}}]}}, "schema": []}
{"input": "Using a blind set of plasmas obtained from 21 breast cancer patients and 21 normal healthy controls, we confirmed that BTD was significantly down-regulated in breast cancer plasma (Wilcoxon rank-sum test, p = 0. 002).", "output": {"entities": {"gene": [{"text": "BTD", "start": 119, "end": 122}], "disease": [{"text": "blind", "start": 8, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Genetic disruption of the PI3K regulatory subunits, p85α, p55α, and p50α, normalizes mutant PTPN11-induced hypersensitivity to GM-CSF.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 26, "end": 30}], "disease": [{"text": "hypersensitivity", "start": 107, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "High-molecular-weight complexes are caused by the \" coiled-coil \" domain of PML or the BTB/POZ domain of PLZF.", "output": {"entities": {"gene": [{"text": "PLZF", "start": 105, "end": 109}], "disease": [{"text": "weight", "start": 15, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.", "output": {"entities": {"gene": [{"text": "spartin", "start": 24, "end": 31}], "disease": [{"text": "mono", "start": 35, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The NUP98/RAP1GDS1 (NRG) is a new fusion gene, originating from the t (4; 11) (q21; p15) translocation, that characterizes a subset of T-cell acute lymphoblastic leukemia (T-ALL).", "output": {"entities": {"gene": [{"text": "RAP1GDS1", "start": 10, "end": 18}], "disease": [{"text": "translocation", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to evaluate if the life styles such as drinking and smoking and the genetic variations of alcohol-metabolizing enzymes (ADH2, ALDH2, CYP2E1, and CAT) were associated with the immunological biomarkers.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 156, "end": 161}], "disease": [{"text": "smoking", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate clinical significance of C-myc mRNA in patients with tongue cancer.", "output": {"entities": {"gene": [{"text": "C-myc", "start": 63, "end": 68}], "disease": [{"text": "tongue cancer", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Most spermatocytic seminomas show increased immunoreactivity for FGFR3 and/or HRAS.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 65, "end": 70}], "disease": [{"text": "seminomas", "start": 19, "end": 28}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR3", "start": 65, "end": 70}, "tail": {"text": "seminomas", "start": 19, "end": 28}}]}}, "schema": []}
{"input": "With the advent of powerful screening techniques, TTR has also been linked to a number of other pathological conditions, including Parkinson' s disease, schizophrenia, depression, among others.", "output": {"entities": {"gene": [{"text": "TTR", "start": 50, "end": 53}], "disease": [{"text": "depression", "start": 168, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TTR", "start": 50, "end": 53}, "tail": {"text": "depression", "start": 168, "end": 178}}]}}, "schema": []}
{"input": "Genetic variations in two hypoxia-inducible angiogenic genes, VEGF and ANG, have been linked with sporadic amyotrophic lateral sclerosis (SALS).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 62, "end": 66}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Although the total SL PLC activity was decreased in ischemia and increased upon reperfusion, differential changes in PLC isozymes were detected.", "output": {"entities": {"gene": [{"text": "PLC", "start": 22, "end": 25}], "disease": [{"text": "ischemia", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The present study evaluated the effect of ET (B) receptor agonist, IRL 1620, on breast tumor perfusion, concentration of [3H] paclitaxel in tumor and tissues, and efficacy of paclitaxel in N-methyl nitrosourea induced breast tumor bearing rats.", "output": {"entities": {"gene": [{"text": "ET (B", "start": 42, "end": 47}], "disease": [{"text": "breast tumor", "start": 80, "end": 92}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ET (B", "start": 42, "end": 47}, "tail": {"text": "breast tumor", "start": 80, "end": 92}}]}}, "schema": []}
{"input": "In the present study, we have performed the experiments to test the hypothesis that histone H3K14 acetylation is the key role in the fetal heart leads to over-expression of cardiac specific genes DHAND and EHAND caused by prenatal alcohol exposure.", "output": {"entities": {"gene": [{"text": "DHAND", "start": 196, "end": 201}], "disease": [{"text": "prenatal alcohol exposure", "start": 222, "end": 247}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DHAND", "start": 196, "end": 201}, "tail": {"text": "prenatal alcohol exposure", "start": 222, "end": 247}}]}}, "schema": []}
{"input": "As such, PLA2G5 tipped the immune balance toward an M2 state, thereby counteracting adipose tissue inflammation, insulin resistance, hyperlipidemia, and obesity.", "output": {"entities": {"gene": [{"text": "PLA2G5", "start": 9, "end": 15}], "disease": [{"text": "insulin resistance", "start": 113, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The median sample size of studies was 112, 74% were retrospective case-series and 70% performed microsatellite instability (MSI) analysis to evaluate the status of MMR.", "output": {"entities": {"gene": [{"text": "MMR", "start": 164, "end": 167}], "disease": [{"text": "microsatellite instability", "start": 96, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Mutations in MED12 cause X-linked Ohdo syndrome.", "output": {"entities": {"gene": [{"text": "MED12", "start": 13, "end": 18}], "disease": [{"text": "X-linked Ohdo syndrome", "start": 25, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MED12", "start": 13, "end": 18}, "tail": {"text": "X-linked Ohdo syndrome", "start": 25, "end": 47}}]}}, "schema": []}
{"input": "We screened a group of 105 Chinese sporadic NFLE cases and identified a novel CHRNB2 mutation, V337G, in an evolutionary conserved region of the intracellular loop between transmembrane domains M3 and M4 in one patient.", "output": {"entities": {"gene": [{"text": "CHRNB2", "start": 78, "end": 84}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "AST decreased the protein level of VEGF and bFGF in HCT 116 colon cancer cells in a time-and dose-dependent manner.", "output": {"entities": {"gene": [{"text": "AST", "start": 0, "end": 3}], "disease": [{"text": "colon cancer", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Genetic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynaptic glycinergic proteins including the GlyR beta subunit (GLRB), gephyrin (GPHN) and RhoGEF collybistin (ARHGEF9).", "output": {"entities": {"gene": [{"text": "GLRB", "start": 163, "end": 167}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Chronic dietary menthol blunted mesenteric arterial constriction and lowered blood pressure in genetic hypertensive rats via inhibition of RhoA/Rho kinase expression and activity in the vivo study.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 144, "end": 154}], "disease": [{"text": "constriction", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Here, we assessed the role in T1D of variants previously reported to be associated with atopic diseases and epithelial barrier function, profilaggrin (FLG), and those that affect the expression levels of the proinflammatory cytokines tumour necrosis factor (TNF)-α, interleukin (IL)-1β, interferon (IFN) γ and IL-18.", "output": {"entities": {"gene": [{"text": "TNF", "start": 258, "end": 261}], "disease": [{"text": "atopic", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Bezafibrate treatment of LLC-PK1 cells prevented cisplatin-induced translocation of proapoptotic Bax from the cytosol to the mitochondrial fraction, and increased the expression of antiapoptotic molecule Bcl-2.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 204, "end": 209}], "disease": [{"text": "translocation", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "This is based on analysis of the dominant negative effects of ClC-1 mutations causing myotonia congenita (MC, Thomsen' s disease), including a newly identified mutation (P480L) in Thomsen' s own family.", "output": {"entities": {"gene": [{"text": "ClC-1", "start": 62, "end": 67}], "disease": [{"text": "Thomsen' s disease", "start": 110, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ClC-1", "start": 62, "end": 67}, "tail": {"text": "Thomsen' s disease", "start": 110, "end": 128}}]}}, "schema": []}
{"input": "Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.", "output": {"entities": {"gene": [{"text": "RDH12", "start": 37, "end": 42}], "disease": [{"text": "Retinal degeneration", "start": 0, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RDH12", "start": 37, "end": 42}, "tail": {"text": "Retinal degeneration", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "In obesity, reduction of adipose EFNB1 may accelerate the vicious cycle involved in adipose tissue inflammation.", "output": {"entities": {"gene": [{"text": "EFNB1", "start": 33, "end": 38}], "disease": [{"text": "inflammation", "start": 99, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EFNB1", "start": 33, "end": 38}, "tail": {"text": "inflammation", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "To explore whether there is genetic variation in HTLV-I tax that can escape CTL recognition during the development of ATL, the HTLV-I tax gene was sequenced in 55 patients with ATL, 61 patients with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP), and 62 healthy carriers, and it was correlated with the presence of HLA-A * 02.", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 336, "end": 341}], "disease": [{"text": "tropical spastic paraparesis", "start": 228, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "No association with left ventricular mass was found for the polymorphisms of angiotensin I-converting enzyme gene I/D, angiotensinogen gene M235T and angiotensin II type 1 gene A1166C when studied separately.", "output": {"entities": {"gene": [{"text": "angiotensin I-converting enzyme", "start": 77, "end": 108}], "disease": [{"text": "left ventricular mass", "start": 20, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The expression of CD39 on regulatory T cells is genetically driven and further upregulated at sites of inflammation.", "output": {"entities": {"gene": [{"text": "CD39", "start": 18, "end": 22}], "disease": [{"text": "inflammation", "start": 103, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Lamin A is a key component of the nuclear lamina produced through post-translational processing of its precursor known as prelamin A. LMNA mutations leading to farnesylated prelamin A accumulation are known to cause lipodystrophy, progeroid and developmental diseases, including Mandibuloacral dysplasia, a mild progeroid syndrome with partial lipodystrophy and altered bone turnover.", "output": {"entities": {"gene": [{"text": "prelamin A", "start": 122, "end": 132}], "disease": [{"text": "mild", "start": 307, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "HIF-1α is a transcription factor that under hypoxic conditions, accumulates in endothelial cells and can bind to VEGF gene promoter and induce VEGF gene expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 113, "end": 117}], "disease": [{"text": "hypoxic", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "This study supports that the ASAH1 gene may be a potential candidate gene for schizophrenia in Han Chinese subjects.", "output": {"entities": {"gene": [{"text": "ASAH1", "start": 29, "end": 34}], "disease": [{"text": "schizophrenia", "start": 78, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ASAH1", "start": 29, "end": 34}, "tail": {"text": "schizophrenia", "start": 78, "end": 91}}]}}, "schema": []}
{"input": "Immunohistochemical analysis using an antibody specific to nuclear NOTCH1 correlates with mutation status in sporadic cSCCs, and regions of NOTCH1 loss or downregulation are frequently observed in normal-looking skin.", "output": {"entities": {"gene": [{"text": "NOTCH1", "start": 67, "end": 73}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we report a novel mutation of the ATP7B gene in a family with WD.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 45, "end": 50}], "disease": [{"text": "WD", "start": 73, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 45, "end": 50}, "tail": {"text": "WD", "start": 73, "end": 75}}]}}, "schema": []}
{"input": "We used two-level regression models to estimate the effects of GSTM1, GSTT1, and GSTP1 genotypes on the adjusted annual average lung function growth.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 70, "end": 75}], "disease": [{"text": "regression", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Further strengthening this linkage observation, two flanking marker loci for LPL locus, D8S261 (9 cM telomeric to LPL locus) and D8S282 (3 cM centromeric to LPL locus), also showed evidence for linkage with systolic blood pressure (P = 0. 02 and 0. 0002 for D8S261 and D8S282, respectively).", "output": {"entities": {"gene": [{"text": "LPL", "start": 77, "end": 80}], "disease": [{"text": "systolic blood pressure", "start": 207, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Notably, we found that ZBTB7A is genetically lost, as well as downregulated at both the mRNA and protein levels, in a subset of human advanced prostate cancers.", "output": {"entities": {"gene": [{"text": "ZBTB7A", "start": 23, "end": 29}], "disease": [{"text": "prostate cancers", "start": 143, "end": 159}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ZBTB7A", "start": 23, "end": 29}, "tail": {"text": "prostate cancers", "start": 143, "end": 159}}]}}, "schema": []}
{"input": "Accumulating evidence suggest that the induction of epithelial-mesenchymal transition (EMT) phenotype and acquisition of cancer stem cell (CSC) characteristics are highly interrelated, and contribute to tumorigenesis, tumor progression, metastasis, and relapse.", "output": {"entities": {"gene": [{"text": "EMT", "start": 87, "end": 90}], "disease": [{"text": "tumor progression", "start": 218, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "At weeks 4, 8, and 12 after transplantation, renal function, renal interstitial fibrosis, and peritubular microvessel density (MVD) were investigated.", "output": {"entities": {"gene": [{"text": "MVD", "start": 127, "end": 130}], "disease": [{"text": "renal interstitial fibrosis", "start": 61, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "I-and L-FABP concentrations significantly increased with birth weight (1. 6 and 5. 0 ng/ml per kg, respectively).", "output": {"entities": {"gene": [{"text": "L-FABP", "start": 6, "end": 12}], "disease": [{"text": "birth weight", "start": 57, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Severe acute toxicities, including leukopenia, stomatitis, and cheilitis, were evaluated according to 6 single nucleotide polymorphisms (SNPs) in the gene; the intronic SNPs of rs7635707 G/T, rs6787255 A/C, rs9812034 G/T, and rs9310738 C/T and the SNPs in the 3'-untranslated region (3'-UTR) of rs844107 C/T and rs1349265 G/A.", "output": {"entities": {"gene": [{"text": "UTR", "start": 287, "end": 290}], "disease": [{"text": "leukopenia", "start": 35, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Two important findings were, first, that several genes known to be frequently hypermethylated in prostate cancer were apparent, and, second, that validation studies revealed eight novel genes hypermethylated in the prostate tumor cell lines, four of which were unmethylated in normal prostate cells and hypermethylated in primary prostate tumors (SLC15A3, 66%; KRT7, 54%; TACSTD2, 17%; GADD45b, 3%).", "output": {"entities": {"gene": [{"text": "SLC15A3", "start": 347, "end": 354}], "disease": [{"text": "prostate cancer", "start": 97, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Genetic ablation of SK2 impaired leukemia development in a mouse model of ALL and pharmacologic inhibition extended survival in mouse xenograft models of human disease.", "output": {"entities": {"gene": [{"text": "SK2", "start": 20, "end": 23}], "disease": [{"text": "leukemia", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Increased expression was also associated with breast cancer subtypes, and ectopic expression of PHGDH in mammary epithelial cells disrupted acinar morphogenesis and induced other phenotypic alterations that may predispose cells to transformation.", "output": {"entities": {"gene": [{"text": "PHGDH", "start": 96, "end": 101}], "disease": [{"text": "breast cancer", "start": 46, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PHGDH", "start": 96, "end": 101}, "tail": {"text": "breast cancer", "start": 46, "end": 59}}]}}, "schema": []}
{"input": "Plasma VEGF levels decreased by approximately 90% during treatment with bortezomib, indicating that this agent can potently inhibit the hypoxia response in tumors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 7, "end": 11}], "disease": [{"text": "hypoxia", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The effect of hypoxia, inflammation, and ER stress on the expression of TWEAK and Fn14 was examined in human adipocyte and macrophage cell lines.", "output": {"entities": {"gene": [{"text": "Fn14", "start": 82, "end": 86}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Cumulative incidence of second subsequent neoplasm (SN2), either malignant or benign, was calculated.", "output": {"entities": {"gene": [{"text": "SN2", "start": 52, "end": 55}], "disease": [{"text": "neoplasm", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Association analysis integrating gene expression data with clinical information revealed that enhanced MCMBP transcript levels correlate with an increased probability of relapse risk in colorectal cancers and different types of carcinomas.", "output": {"entities": {"gene": [{"text": "MCMBP", "start": 103, "end": 108}], "disease": [{"text": "carcinomas", "start": 228, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Pulmonary vascular balance in congenital diaphragmatic hernia: enhanced endothelin-1 gene expression as a possible cause of pulmonary vasoconstriction.", "output": {"entities": {"gene": [{"text": "endothelin-1", "start": 72, "end": 84}], "disease": [{"text": "diaphragmatic hernia", "start": 41, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "endothelin-1", "start": 72, "end": 84}, "tail": {"text": "diaphragmatic hernia", "start": 41, "end": 61}}]}}, "schema": []}
{"input": "Bcl-2 transfection via herpes simplex virus blocks apoptosis-inducing factor translocation after focal ischemia in the rat.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Plasma C3c exceeded the reference interval in two patients with ulcerative colitis.", "output": {"entities": {"gene": [{"text": "C3c", "start": 7, "end": 10}], "disease": [{"text": "ulcerative colitis", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the Btk gene in six XLA patients from five unrelated families.", "output": {"entities": {"gene": [{"text": "Btk", "start": 21, "end": 24}], "disease": [{"text": "XLA", "start": 37, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Btk", "start": 21, "end": 24}, "tail": {"text": "XLA", "start": 37, "end": 40}}]}}, "schema": []}
{"input": "Profiles of liver cytokine RNA levels as well as serum cytokine levels revealed reduced expression of the Th1 cytokine IFN-gamma in CCR2-/-mice.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 132, "end": 136}], "disease": [{"text": "liver", "start": 12, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCR2", "start": 132, "end": 136}, "tail": {"text": "liver", "start": 12, "end": 17}}]}}, "schema": []}
{"input": "In this study, individual variation in the genetic response to low-dose bisphenol A (BPA) was investigated in human foreskin fibroblast cells (hFFCs) derived from child cryptorchidism (CO) and hypospadias (HS) patients.", "output": {"entities": {"gene": [{"text": "BPA", "start": 85, "end": 88}], "disease": [{"text": "hypospadias", "start": 193, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "An in vitro study revealed that activin-A, which is induced by IL-1β or TNF-α, might promote endometriosis by stimulating IL-6 and PAR-2 mRNA expression and increasing the proliferation of EoSC.", "output": {"entities": {"gene": [{"text": "PAR", "start": 131, "end": 134}], "disease": [{"text": "endometriosis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The restricted expression of CD-RAP/MIA may provide an opportunity to monitor cartilage metabolic activity as well as the tumor activity of melanoma and chondrosarcoma.", "output": {"entities": {"gene": [{"text": "MIA", "start": 36, "end": 39}], "disease": [{"text": "chondrosarcoma", "start": 153, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.", "output": {"entities": {"gene": [{"text": "ARHGEF6", "start": 13, "end": 20}], "disease": [{"text": "X-linked mental retardation", "start": 102, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARHGEF6", "start": 13, "end": 20}, "tail": {"text": "X-linked mental retardation", "start": 102, "end": 129}}]}}, "schema": []}
{"input": "Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 53, "end": 70}], "disease": [{"text": "androgen insensitivity syndrome", "start": 107, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 53, "end": 70}, "tail": {"text": "androgen insensitivity syndrome", "start": 107, "end": 138}}]}}, "schema": []}
{"input": "This finding has important implications for the molecular diagnosis of SNS and alveolar rhabdomyosarcoma, and underscores the critical contribution of the cell of origin to the phenotype induced by oncogenic transcription factor reprogramming.", "output": {"entities": {"gene": [{"text": "SNS", "start": 71, "end": 74}], "disease": [{"text": "alveolar rhabdomyosarcoma", "start": 79, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Methods In this context, a search was undertaken for mutations in LMNA, encoding Lamins A/C, and ZMPSTE24, LBR, LMNB1, LMNB2, MAN1, SYNE1a and LAP2, encoding Lamins A/C molecular partners, in a Caucasian woman affected with Reynolds syndrome, a particular nosologic entity specifically associating limited cutaneous SSc and primary biliary cirrhosis.", "output": {"entities": {"gene": [{"text": "LBR", "start": 107, "end": 110}], "disease": [{"text": "Reynolds syndrome", "start": 224, "end": 241}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LBR", "start": 107, "end": 110}, "tail": {"text": "Reynolds syndrome", "start": 224, "end": 241}}]}}, "schema": []}
{"input": "siRNAs targeting IQGAP1 or RhoC were transfected into gastric cancer cells to knock down the expression of the proteins.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 27, "end": 31}], "disease": [{"text": "gastric cancer", "start": 54, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Cluster analysis however revealed that simultaneous high expression of SLC31A1, ABCC2, and ABCG2 indicates poor survival of HNSCC patients.", "output": {"entities": {"gene": [{"text": "ABCC2", "start": 80, "end": 85}], "disease": [{"text": "HNSCC", "start": 124, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCC2", "start": 80, "end": 85}, "tail": {"text": "HNSCC", "start": 124, "end": 129}}]}}, "schema": []}
{"input": "Down-regulation of transcription elogation factor A (SII) like 4 (TCEAL4) in anaplastic thyroid cancer.", "output": {"entities": {"gene": [{"text": "SII", "start": 53, "end": 56}], "disease": [{"text": "anaplastic thyroid cancer", "start": 77, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Results from this preliminary study suggest that the expression of ApoER2 may serve as a trait marker for major depressive disorder.", "output": {"entities": {"gene": [{"text": "ApoER2", "start": 67, "end": 73}], "disease": [{"text": "major depressive disorder", "start": 106, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ApoER2", "start": 67, "end": 73}, "tail": {"text": "major depressive disorder", "start": 106, "end": 131}}]}}, "schema": []}
{"input": "Taken together, our study provides a mechanistic basis for the role for the PLCγ1-PKCγ pathway in regulating Hsp90α plasma membrane translocation, which facilitates tumor cell motility and promotes tumor metastasis.", "output": {"entities": {"gene": [{"text": "PLCγ1", "start": 76, "end": 81}], "disease": [{"text": "translocation", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In this study, in order to evaluate the reno-protective effects of wortmannin in early DN by regulating Rac1 and Cdc42, streptozotocin (STZ)-induced proteinuric renal disease (SPRD) rats were treated with wortmannin.", "output": {"entities": {"gene": [{"text": "STZ", "start": 136, "end": 139}], "disease": [{"text": "renal disease", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "We screened the DNA of 135 patients with RP, 25 patients with CRD, and 30 with LCA using SSCP and direct DNA sequencing for mutations in the SEMA4A gene.", "output": {"entities": {"gene": [{"text": "SEMA4A", "start": 141, "end": 147}], "disease": [{"text": "CRD", "start": 62, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEMA4A", "start": 141, "end": 147}, "tail": {"text": "CRD", "start": 62, "end": 65}}]}}, "schema": []}
{"input": "The YAC transgene was expressed in neural crest cells, rescued the profound craniofacial abnormalities and spina bifida observed in PDGFRalpha knockout mice and prolonged survival until birth.", "output": {"entities": {"gene": [{"text": "PDGFRalpha", "start": 132, "end": 142}], "disease": [{"text": "craniofacial abnormalities", "start": 76, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDGFRalpha", "start": 132, "end": 142}, "tail": {"text": "craniofacial abnormalities", "start": 76, "end": 102}}]}}, "schema": []}
{"input": "Our observation demonstrates that FMR2 gene deletions may contribute to the FRAXE phenotype.", "output": {"entities": {"gene": [{"text": "FMR2", "start": 34, "end": 38}], "disease": [{"text": "FRAXE", "start": 76, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMR2", "start": 34, "end": 38}, "tail": {"text": "FRAXE", "start": 76, "end": 81}}]}}, "schema": []}
{"input": "Conversely, the CDK inhibitor Flp completely blocked VEGF induction by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 53, "end": 57}], "disease": [{"text": "hypoxia", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn.", "output": {"entities": {"gene": [{"text": "Sod1", "start": 73, "end": 77}], "disease": [{"text": "cardiac conduction defects", "start": 141, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Multivariate analysis based on a conditional logistic regression model and a hierarchically well-formulated model strategy revealed that: (i) the OR of developing probable AUD due to 1 g increment of daily ethanol drinking was 1. 110 * among farmers (95% CI = 1. 054-1. 170); (ii) OR due to 1 g increment of daily ethanol drinking was 1. 329 * among non-farmers (95% CI = 1. 109-1. 593); (iii) OR due to either ADH2 * 1/1 or ALDH2 * 1/1 was insignificant; and (iv) the daily amount of smoking is independently associated with probable AUD.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 425, "end": 430}], "disease": [{"text": "smoking", "start": 485, "end": 492}]}, "relations": {}}, "schema": []}
{"input": "Noting that aneuploidy in human breast cancer correlates with increased expression levels of the Mps1 checkpoint gene, we investigated whether these high levels of Mps1 contribute to the ability of breast cancer cells to tolerate this aneuploidy.", "output": {"entities": {"gene": [{"text": "Mps1", "start": 97, "end": 101}], "disease": [{"text": "aneuploidy", "start": 12, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "In a septic shock population, the Arg753Gln TLR2 polymorphism occurred in 2 out of 91 septic patients.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 44, "end": 48}], "disease": [{"text": "septic shock", "start": 5, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "These observations were supported by quantitative reverse transcription-polymerase chain reaction, for miR-328, miR-17-5p, miR-134, miR-652, miR-382, and miR-107 and were consistent with a schizophrenia-associated increase in miRNA processing through elevated Dicer expression.", "output": {"entities": {"gene": [{"text": "miR-328", "start": 103, "end": 110}], "disease": [{"text": "schizophrenia", "start": 189, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-328", "start": 103, "end": 110}, "tail": {"text": "schizophrenia", "start": 189, "end": 202}}]}}, "schema": []}
{"input": "We show that DICER expression is suppressed by hypoxia through an epigenetic mechanism that involves inhibition of oxygen-dependent H3K27me3 demethylases KDM6A/B and results in silencing of the DICER promoter.", "output": {"entities": {"gene": [{"text": "DICER", "start": 13, "end": 18}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "CLN2/TPP1-and CLN3-iPSCs displayed overlapping but distinct biochemical and morphological abnormalities within the endosomal-lysosomal system.", "output": {"entities": {"gene": [{"text": "TPP1", "start": 5, "end": 9}], "disease": [{"text": "abnormalities", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Conversely, hypoxia activates PKD2 in pancreatic cancer cells and PKD2 was identified as the major mediator of hypoxia-stimulated VEGF-A promoter activity, expression and secretion in tumour cells.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 130, "end": 136}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "We found elevated expression of SRC and LYN kinase mRNA and protein but decreased levels of CKB kinase, alterations that may have a role in the invasiveness and metastasis of gastric tumors.", "output": {"entities": {"gene": [{"text": "CKB", "start": 92, "end": 95}], "disease": [{"text": "metastasis", "start": 161, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Chronic hypoxic pulmonary hypertension (PH), associated with increased pulmonary arterial pressure (PPA) and right ventricular hypertrophy (RVH), correlates significantly with calcitonin gene-related peptide (CGRP) and somatostatin (SOM) levels in lung and blood.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 209, "end": 213}], "disease": [{"text": "right ventricular hypertrophy", "start": 109, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Collectively, DAPK promoter methylation and down-regulation is tightly associated with gastric atrophy, which often contributes to the preneoplastic changes in gastric carcinogenesis.", "output": {"entities": {"gene": [{"text": "DAPK", "start": 14, "end": 18}], "disease": [{"text": "gastric atrophy", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "It has become increasingly clear that TGF-β plays fundamental roles in multiple steps of tumor progression, including epithelial-mesenchymal transition (EMT).", "output": {"entities": {"gene": [{"text": "EMT", "start": 153, "end": 156}], "disease": [{"text": "tumor progression", "start": 89, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The identification of CRLF1 mutations in Crisponi syndrome supports the key role of the CNTFR pathway in the function of the autonomic nervous system.", "output": {"entities": {"gene": [{"text": "CRLF1", "start": 22, "end": 27}], "disease": [{"text": "Crisponi syndrome", "start": 41, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRLF1", "start": 22, "end": 27}, "tail": {"text": "Crisponi syndrome", "start": 41, "end": 58}}]}}, "schema": []}
{"input": "Screening for structural balanced chromosomal aberrations in 58 patients with ovarian carcinoma found a patient with inv (9) (p11; q13) who had repeated spontaneous abortions.", "output": {"entities": {"gene": [{"text": "p11", "start": 126, "end": 129}], "disease": [{"text": "ovarian carcinoma", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We have investigated expression of the cell cycle control and tumor suppressor genes INK4a (p16-p14ARF), INK4b (p15-p10) and RB, and their relation to telomerase activation during malignant meningioma progression.", "output": {"entities": {"gene": [{"text": "p15", "start": 112, "end": 115}], "disease": [{"text": "malignant meningioma", "start": 180, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "The results of this study demonstrated that new types of HAdV-D caused epidemic keratoconjunctivitis during 1995-2010, and included an outbreak of keratoconjunctivitis caused by HAdV-D54.", "output": {"entities": {"gene": [{"text": "D54", "start": 183, "end": 186}], "disease": [{"text": "keratoconjunctivitis", "start": 80, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "One mechanism for driving angiogenesis results from the increased production of vascular endothelial growth factor (VEGF) following up-regulation of the hypoxia-inducible transcription factor.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 116, "end": 120}], "disease": [{"text": "hypoxia", "start": 153, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Seventy-five stroke survivors with PSD and 75 nondepressed stroke survivors.", "output": {"entities": {"gene": [{"text": "PSD", "start": 35, "end": 38}], "disease": [{"text": "stroke", "start": 13, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Nuclear receptor subfamily 4, group A, member 2 (NR4A2, also called Nurr1) has lately become of interest with regard to atherogenesis.", "output": {"entities": {"gene": [{"text": "Nurr1", "start": 68, "end": 73}], "disease": [{"text": "atherogenesis", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Of those, four had significant associations with circulating levels of IGF1 or IGFBP3 and/or mammographic density.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 71, "end": 75}], "disease": [{"text": "mammographic density", "start": 93, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Following caspase 8 activation, Bid, a proapoptotic Bcl-2 member, was cleaved and this cleavage then triggered Bax conformational changes and Bax translocation from cytosol to mitochondrial membrane.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 52, "end": 57}], "disease": [{"text": "translocation", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Telomere length in myocardial cells did not differ between the two rat strains, whereas telomerase activity and expression of the telomerase reverse transcriptase gene were increased in DS/obese rats.", "output": {"entities": {"gene": [{"text": "telomerase reverse transcriptase gene", "start": 130, "end": 167}], "disease": [{"text": "obese", "start": 189, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "One SCC had a missense mutation at codon 285 (GAG > AAG, Glu > Lys) and the other a nonsense mutation at codon 336, and the leukoplakia had a missense mutation at codon 273 (CGT > CAT, Arg > His).", "output": {"entities": {"gene": [{"text": "CAT", "start": 180, "end": 183}], "disease": [{"text": "leukoplakia", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "RIP3 knockout mice had decreased serum alanine amino transferase activity and hepatic steatosis but had no effect on hepatic neutrophil infiltration compared with wild type mice after Gao-binge alcohol treatment.", "output": {"entities": {"gene": [{"text": "RIP3", "start": 0, "end": 4}], "disease": [{"text": "hepatic steatosis", "start": 78, "end": 95}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "RIP3", "start": 0, "end": 4}, "tail": {"text": "hepatic steatosis", "start": 78, "end": 95}}]}}, "schema": []}
{"input": "Since extracellular superoxide dismutase (EC-SOD) protects tissues against the harmful effects of superoxide anion, the hypothesis that systemic adenovirus-mediated EC-SOD gene transfer could reduce liver damage was tested.", "output": {"entities": {"gene": [{"text": "EC-SOD", "start": 42, "end": 48}], "disease": [{"text": "adenovirus", "start": 145, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Mel-18 and BMI1 may regulate tumorigenesis, cell migration and cancer metastasis via both p16-and AKT-dependent growth regulatory pathways.", "output": {"entities": {"gene": [{"text": "Mel-18", "start": 0, "end": 6}], "disease": [{"text": "tumorigenesis", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave.", "output": {"entities": {"gene": [{"text": "dystrophin", "start": 67, "end": 77}], "disease": [{"text": "Duchenne muscular dystrophy", "start": 94, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dystrophin", "start": 67, "end": 77}, "tail": {"text": "Duchenne muscular dystrophy", "start": 94, "end": 121}}]}}, "schema": []}
{"input": "The purpose of this study was to characterize the expression and function of Mgat5 in CD133 + pulmonary adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "Mgat5", "start": 77, "end": 82}], "disease": [{"text": "adenocarcinoma", "start": 104, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Decreased concentrations of DAZ family members in men with spermatogenic failure may be due to the secondary effect of germ cell loss, and transcriptional control of BOULE, DAZL, and DAZ are not altered in the various degrees of spermatogenic failure.", "output": {"entities": {"gene": [{"text": "DAZL", "start": 173, "end": 177}], "disease": [{"text": "secondary", "start": 99, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We have investigated alterations in the glutathione (GSH) and activity levels of antioxidative enzymes [superoxide dismutase (SOD), catalase (CAT), glutathione S-transferase (GST), and glutathione reductase (GR)] and myeloperoxidase (MPO), as markers of the ulceration process following oral administration of montelukast, lansoprazole, famotidine, and ranitidine, respectively, in rats with indomethacin-induced ulcers.", "output": {"entities": {"gene": [{"text": "MPO", "start": 234, "end": 237}], "disease": [{"text": "ulcers", "start": 413, "end": 419}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of β-catenin and TCF4 in APC-mutated CRC cells inhibited endogenous ZEB1, whereas forced translocation of β-catenin to the nucleus in APC-wild-type CRC cells induced de novo expression of ZEB1.", "output": {"entities": {"gene": [{"text": "ZEB1", "start": 78, "end": 82}], "disease": [{"text": "translocation", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Low frequency of BCL-2/J (H) translocation in peripheral blood lymphocytes of healthy Japanese individuals.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 17, "end": 22}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Herein is reported efficient erythropoietic differentiation of a human embryonic stem cell (ESC) line derived from a preimplantation genetic diagnosis (PGD)-screened embryo that harbours the homozygous sickle cell disease (SCD) haemoglobinopathy mutation.", "output": {"entities": {"gene": [{"text": "PGD", "start": 152, "end": 155}], "disease": [{"text": "sickle cell disease", "start": 202, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Here we identify the downstream of tyrosine kinase (Dok) family members Dok1, Dok2 and Dok3 as lung tumor suppressors.", "output": {"entities": {"gene": [{"text": "Dok1", "start": 72, "end": 76}], "disease": [{"text": "lung tumor", "start": 95, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dok1", "start": 72, "end": 76}, "tail": {"text": "lung tumor", "start": 95, "end": 105}}]}}, "schema": []}
{"input": "Abnormal activation of the recently identified with-no-lysine kinase (WNK)-oxidative stress-responsive kinase 1 (OSR1)/STE20/SPS1-related proline/alanine-rich kinase (SPAK)-NaCl cotransporter (NCC) phosphorylation cascade results in the salt-sensitive hypertension of pseudohypoaldosteronism type II.", "output": {"entities": {"gene": [{"text": "oxidative stress-responsive kinase 1", "start": 75, "end": 111}], "disease": [{"text": "hypertension", "start": 252, "end": 264}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "oxidative stress-responsive kinase 1", "start": 75, "end": 111}, "tail": {"text": "hypertension", "start": 252, "end": 264}}]}}, "schema": []}
{"input": "With this finding we demonstrate that the destruction of dimerization of the androgen receptor is one of the causes of Reifenstein syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 77, "end": 94}], "disease": [{"text": "Reifenstein syndrome", "start": 119, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 77, "end": 94}, "tail": {"text": "Reifenstein syndrome", "start": 119, "end": 139}}]}}, "schema": []}
{"input": "To investigate the association of single nucleotide polymorphisms (SNPs) in NOS3 (G894T, T-786C, and a variable number of tandem repetitions VNTR in intron 4), MMP2 (C-1306T), and MMP9 (C-1562T) genes with preeclampsia in patients from Southeastern Brazil.", "output": {"entities": {"gene": [{"text": "MMP2", "start": 160, "end": 164}], "disease": [{"text": "preeclampsia", "start": 206, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Twelve to 15% of sporadic colorectal cancers display defective DNA mismatch repair (MMR), manifested as microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 84, "end": 87}], "disease": [{"text": "microsatellite instability", "start": 104, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that miR-26a replacement is a potential therapeutic strategy for metastatic melanoma, and that SODD, in particular, is a potentially useful therapeutic target.", "output": {"entities": {"gene": [{"text": "SODD", "start": 117, "end": 121}], "disease": [{"text": "metastatic melanoma", "start": 87, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The combined findings strongly suggest that the TIA1 mutation causes perturbed RNA splicing and cellular stress resulting in WDM.", "output": {"entities": {"gene": [{"text": "TIA1", "start": 48, "end": 52}], "disease": [{"text": "WDM", "start": 125, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TIA1", "start": 48, "end": 52}, "tail": {"text": "WDM", "start": 125, "end": 128}}]}}, "schema": []}
{"input": "Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 41, "end": 62}], "disease": [{"text": "Fabry disease", "start": 79, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 41, "end": 62}, "tail": {"text": "Fabry disease", "start": 79, "end": 92}}]}}, "schema": []}
{"input": "Finally, we show that the adaptive advantage conferred by AR-mediated Grp78/BiP upregulation is temporary, as upon chronic serum starvation, AR activation delayed but did not suppress the onset of autophagy and cell death.", "output": {"entities": {"gene": [{"text": "Grp78", "start": 70, "end": 75}], "disease": [{"text": "starvation", "start": 129, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.", "output": {"entities": {"gene": [{"text": "TCF4", "start": 13, "end": 17}], "disease": [{"text": "Pitt-Hopkins syndrome", "start": 103, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCF4", "start": 13, "end": 17}, "tail": {"text": "Pitt-Hopkins syndrome", "start": 103, "end": 124}}]}}, "schema": []}
{"input": "We have examined gene expression for the GLUT 4 transporter isoform in subcutaneous adipocytes, a classic insulin target cell, to better understand molecular mechanisms causing insulin resistance in non-insulin-dependent diabetes mellitus (NIDDM) and obesity.", "output": {"entities": {"gene": [{"text": "GLUT", "start": 41, "end": 45}], "disease": [{"text": "insulin resistance", "start": 177, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "These results reveal a novel posttranslational mechanism for downregulating PEDF, and provide an explanation for hypoxia-provoked increases in VEGF/PEDF ratios, in angiogenesis and/or in neuronal death.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 143, "end": 147}], "disease": [{"text": "hypoxia", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Resveratrol (RV), an antioxidant, inhibits angiotensin II (Ang II)-induced hypertrophy and Ang II-or epidermal growth factor (EGF)-induced Akt phosphorylation in rat vascular smooth muscle cells (VSMCs).", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 43, "end": 57}], "disease": [{"text": "hypertrophy", "start": 75, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin II", "start": 43, "end": 57}, "tail": {"text": "hypertrophy", "start": 75, "end": 86}}]}}, "schema": []}
{"input": "Adult PACAP (-/-) mice showed not only hyperactivity, jumping behavior, and depression-like behavior, but also decreased social interaction.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 6, "end": 11}], "disease": [{"text": "depression", "start": 76, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PACAP", "start": 6, "end": 11}, "tail": {"text": "depression", "start": 76, "end": 86}}]}}, "schema": []}
{"input": "Yet, FLG mutations cannot fully account for the original linkage peak on chromosome 1q21, a region comprising the so-called epidermal differentiation complex (EDC).", "output": {"entities": {"gene": [{"text": "FLG", "start": 5, "end": 8}], "disease": [{"text": "epidermal differentiation complex", "start": 124, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "To investigate interactions between tumor cells and macrophages in angiogenesis, we examined macrophage infiltration, tumor vascularity and expression of monocyte chemoattractant protein (MCP)-1, CC chemokine receptor 2 (CCR2) and vascular endothelial growth factor (VEGF) in 57 archival specimens from patients with esophageal dysplasia (n = 9) and squamous cell carcinomas (n = 48).", "output": {"entities": {"gene": [{"text": "MCP", "start": 188, "end": 191}], "disease": [{"text": "esophageal dysplasia", "start": 317, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "Rearrangement of the AML1/CBFA2 gene in myeloid leukemia with the 3; 21 translocation: expression of co-existing multiple chimeric genes with similar functions as transcriptional repressors, but with opposite tumorigenic properties.", "output": {"entities": {"gene": [{"text": "CBFA2", "start": 26, "end": 31}], "disease": [{"text": "translocation", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.", "output": {"entities": {"gene": [{"text": "ZBTB20", "start": 13, "end": 19}], "disease": [{"text": "prostate cancer", "start": 147, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZBTB20", "start": 13, "end": 19}, "tail": {"text": "prostate cancer", "start": 147, "end": 162}}]}}, "schema": []}
{"input": "Patients presenting slow growth and muscle weakness that could result from a mitochondrial impairment and mental retardation should be considered for sequence analysis of the CaM KMT gene.", "output": {"entities": {"gene": [{"text": "CaM KMT", "start": 175, "end": 182}], "disease": [{"text": "mental retardation", "start": 106, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Venous thrombosis occurred in 17% of patients (concurrent v sequential GM-CSF, 29% v 5%; P2 =. 08).", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 71, "end": 77}], "disease": [{"text": "Venous thrombosis", "start": 0, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GM-CSF", "start": 71, "end": 77}, "tail": {"text": "Venous thrombosis", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "SIRT1 overexpression substantially inhibited neointima formation after carotid artery ligation or carotid artery wire injury.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 0, "end": 5}], "disease": [{"text": "neointima formation", "start": 45, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The course of a S. aureus peritonitis was determined upon pharmacological HIF-1 inhibition.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 74, "end": 79}], "disease": [{"text": "peritonitis", "start": 26, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In animal models, the leptin (LEP) and the leptin receptor (LEPR) genes have been shown to be very important in obesity because leptin functions as a negative feedback signal in regulating body-weight through reducing food intake and stimulating energy expenditure.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 60, "end": 64}], "disease": [{"text": "weight", "start": 194, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Vascular maturation was detected in vivo by vasoreactivity to hypercapnia, measured by BOLD contrast MRI and validated by immunostaining of histologic sections to alpha-smooth muscle actin.", "output": {"entities": {"gene": [{"text": "MRI", "start": 101, "end": 104}], "disease": [{"text": "hypercapnia", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Having reviewed the distribution of all AGXT mutations, we have evaluated a diagnostic strategy that uses selected exon sequencing for the molecular diagnosis of PH1.", "output": {"entities": {"gene": [{"text": "AGXT", "start": 40, "end": 44}], "disease": [{"text": "PH1", "start": 162, "end": 165}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGXT", "start": 40, "end": 44}, "tail": {"text": "PH1", "start": 162, "end": 165}}]}}, "schema": []}
{"input": "The combination of hypoxia and dmPGE (2) treatment resulted in the highest levels of VEGF and HIF-1alpha when compared to either individual treatment.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 85, "end": 89}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The significance of DNA mismatch repair (MMR) deficiency or microsatellite instability (MSI) in ampullary carcinomas remains to be defined.", "output": {"entities": {"gene": [{"text": "MMR", "start": 41, "end": 44}], "disease": [{"text": "microsatellite instability", "start": 60, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In an increasing number of B-cell malignancies, BCR signaling is implicated as a pivotal pathway in tumorigenesis.", "output": {"entities": {"gene": [{"text": "BCR", "start": 48, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser).", "output": {"entities": {"gene": [{"text": "RHAG", "start": 98, "end": 102}], "disease": [{"text": "OHSt", "start": 31, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RHAG", "start": 98, "end": 102}, "tail": {"text": "OHSt", "start": 31, "end": 35}}]}}, "schema": []}
{"input": "These data suggest that NTN4 protects glioblastoma cells from TMZ induced senescence, probably via rescuing TMZ triggered ITGB4 dependent AKT dephosphorylation.", "output": {"entities": {"gene": [{"text": "NTN4", "start": 24, "end": 28}], "disease": [{"text": "glioblastoma", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Xenografts of cells overexpressing USP6 in nude mice exhibited clinical and histological features similar to human NF.", "output": {"entities": {"gene": [{"text": "USP6", "start": 35, "end": 39}], "disease": [{"text": "NF", "start": 115, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USP6", "start": 35, "end": 39}, "tail": {"text": "NF", "start": 115, "end": 117}}]}}, "schema": []}
{"input": "Intra-tumoral injection of carrier cells loaded with CRAd-F35 (Carrier-F35) also resulted in efficient regression of both CAR-positive and CAR-negative tumors.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 53, "end": 57}], "disease": [{"text": "regression", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Mutations in POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GMPPB, TMEM5 and COL4A1 and ISPD lead to a wide spectrum of phenotypes of congenital muscular dystrophies with or without eye and brain abnormalities.", "output": {"entities": {"gene": [{"text": "GMPPB", "start": 55, "end": 60}], "disease": [{"text": "abnormalities", "start": 191, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13.", "output": {"entities": {"gene": [{"text": "OC116", "start": 135, "end": 140}], "disease": [{"text": "bone mineral density", "start": 58, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "195 Chinese sporadic nonsyndromic hearing-impaired children were subjected to microarray-based mutation detection for 9 hot spot mutations in four of the most common deafness-related genes (GJB2, SLC26A4, GJB3, and 12s rRNA).", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 196, "end": 203}], "disease": [{"text": "sporadic", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "The number of c-Kit (+) stem cells, and gene expression of SDF-1, VEGF and bFGF were obviously increased, which was associated with reduced infarct size, thicker left ventricle wall, greater vascular density and cardiocytes density in infarcted hearts of AdV-SDF-1 group.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 66, "end": 70}], "disease": [{"text": "infarct", "start": 140, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of AEG-1 in glycolysis and tumorigenesis, we construct myc-AEG-1 expression vector and demonstrate a novel mechanism that AEG-1 may increase the activity of AMPK by Thr172 phosphorylation.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 27, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We show here that the purified FLD of Angptl4 is sufficient to stimulate lipolysis in mouse primary adipocytes and that increasing circulating FLD levels in mice through adenovirus-mediated overexpression (Ad-FLD) not only induces WAT lipolysis & lt; i & gt; in vivo & lt;/i & gt; but also reduces diet-induced obesity without affecting LPL activity.", "output": {"entities": {"gene": [{"text": "Angptl4", "start": 38, "end": 45}], "disease": [{"text": "obesity", "start": 311, "end": 318}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Angptl4", "start": 38, "end": 45}, "tail": {"text": "obesity", "start": 311, "end": 318}}]}}, "schema": []}
{"input": "Moreover, ectopic expression of SERPINB1 in oral cancer cells, SAS, Ca9-22, CAL-27 and HSC-3, increased cell migration by 25%, 52%, 90% and 100%, respectively.", "output": {"entities": {"gene": [{"text": "SAS", "start": 63, "end": 66}], "disease": [{"text": "oral cancer", "start": 44, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "There was a significant increase (P < 0. 05) in bone mineral density in TDO-affected individuals compared with control individuals at each test region.", "output": {"entities": {"gene": [{"text": "TDO", "start": 72, "end": 75}], "disease": [{"text": "bone mineral density", "start": 48, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The PNPLA3 variant was associated with more severe features of steatohepatitis: steatosis (P < 0. 001), lobular inflammation (P < 0. 001), and ballooning (P = 0. 002), but not with liver fibrosis, anthropometry, or insulin resistance.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 4, "end": 10}], "disease": [{"text": "insulin resistance", "start": 215, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "The present study highlights the importance of the 5' untranslated region (UTR) in identification of genes of human disease, suggests that a single-nucleotide substitution in the 5' UTR could be associated with protein aggregation, and indicates that the GEF protein is associated with cerebellar degeneration in humans.", "output": {"entities": {"gene": [{"text": "UTR", "start": 75, "end": 78}], "disease": [{"text": "cerebellar degeneration", "start": 286, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "Telmisartan prevents weight gain and obesity through activation of peroxisome proliferator-activated receptor-delta-dependent pathways.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor-delta", "start": 67, "end": 115}], "disease": [{"text": "weight gain", "start": 21, "end": 32}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "peroxisome proliferator-activated receptor-delta", "start": 67, "end": 115}, "tail": {"text": "weight gain", "start": 21, "end": 32}}]}}, "schema": []}
{"input": "We report a new Japanese FAF family presenting bilateral atrophies and fasciculations of the facial muscles and tongue.", "output": {"entities": {"gene": [{"text": "FAF", "start": 25, "end": 28}], "disease": [{"text": "fasciculations", "start": 71, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, current data support the concept that production of IgH gene rearrangements is not associated with Bcl-2/IgH chromosomal translocation in hepatic compartment.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 114, "end": 119}], "disease": [{"text": "chromosomal translocation", "start": 124, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate a novel and critical role for miR-145 expression as a regulator of Dab2 expression and β-catenin activity in response to TGF-β (1) and hypoxia.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 142, "end": 147}], "disease": [{"text": "hypoxia", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We have identified 11 different previously unreported mutations in ALOX12B and ALOXE3 in 21 ARCI patients from 19 unrelated families and demonstrated that mutations in the two genes are the second most common cause for ARCI in this cohort of patients.", "output": {"entities": {"gene": [{"text": "ALOXE3", "start": 79, "end": 85}], "disease": [{"text": "ARCI", "start": 92, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALOXE3", "start": 79, "end": 85}, "tail": {"text": "ARCI", "start": 92, "end": 96}}]}}, "schema": []}
{"input": "The two catalytic AMPK alpha isoforms (AMPKalpha1, AMPKalpha2) were investigated with respect to their expression, cellular distribution, and contribution to VEGF expression under hypoxic stress in human U373 glioblastoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 158, "end": 162}], "disease": [{"text": "hypoxic", "start": 180, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.", "output": {"entities": {"gene": [{"text": "phenylalanine hydroxylase", "start": 39, "end": 64}], "disease": [{"text": "phenylketonuria", "start": 102, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "phenylalanine hydroxylase", "start": 39, "end": 64}, "tail": {"text": "phenylketonuria", "start": 102, "end": 117}}]}}, "schema": []}
{"input": "Characterization of the unique chromosomal translocation identified loss of p16 and upregulation of MDR-1 at protein level.", "output": {"entities": {"gene": [{"text": "p16", "start": 76, "end": 79}], "disease": [{"text": "chromosomal translocation", "start": 31, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p16", "start": 76, "end": 79}, "tail": {"text": "chromosomal translocation", "start": 31, "end": 56}}]}}, "schema": []}
{"input": "Mutations in the G Protein Signaling Modulator 2 (GPSM2) cause the autosomal recessive disorder Chudley-McCullough syndrome (CMS), which is characterized by profound congenital sensorineural hearing loss with various abnormalities in the brain.", "output": {"entities": {"gene": [{"text": "CMS", "start": 125, "end": 128}], "disease": [{"text": "congenital sensorineural hearing loss", "start": 166, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "We report the occurrence of a mixed ovarian germ cell tumor (GCT) (50% embryonal carcinoma, 20%-25% choriocarcinoma, 10%-15% dysgerminoma, and 10%-15% immature teratoma) in a 33-year-old Ashkenazi Jewish woman, carrier of the BRCA2: 6174delT mutation.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 226, "end": 231}], "disease": [{"text": "immature teratoma", "start": 151, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Akt activation is mediated through the activation of phosphatidylinositol 3 kinase, and both Akt and MAPK activation are mediated by an E-cadherin adhesion-induced ligand-independent activation of epidermal growth factor receptor.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 197, "end": 229}], "disease": [{"text": "adhesion", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The present study was undertaken to investigate whether the inhibition of VEGF could reduce brain edema formation and cerebral venous infarction (CVI) in a rat 2-vein occlusion (2-VO) model.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 74, "end": 78}], "disease": [{"text": "infarction", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "This study compares the hypermethylation status of E-cadherin and COX-2 genes in patients with oral cancer and patients with OSF and also aims to identify risk factors for the development of OSF.", "output": {"entities": {"gene": [{"text": "OSF", "start": 125, "end": 128}], "disease": [{"text": "oral cancer", "start": 95, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Results show that supplemental MK-7 had no effect on ectopic calcification in Abcc6 (-/-) mice.", "output": {"entities": {"gene": [{"text": "Abcc6", "start": 78, "end": 83}], "disease": [{"text": "ectopic calcification", "start": 53, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "If the levels of beta (3)-AR were too high, they might contribute to the loss of cardiac function and be the foundation of the functional degradation of HF.", "output": {"entities": {"gene": [{"text": "beta (3)-AR", "start": 17, "end": 28}], "disease": [{"text": "HF", "start": 153, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta (3)-AR", "start": 17, "end": 28}, "tail": {"text": "HF", "start": 153, "end": 155}}]}}, "schema": []}
{"input": "Reporter gene assays using minimal reporters containing hypoxia response elements and activator protein-1 (AP-1) elements revealed that the activities of hypoxia inducible factor-1α (HIF-1α) and AP-1, key transcription factors for VEGF gene transcription, were suppressed by quercetin.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 231, "end": 235}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Homozygous APO E4E4 genotype was only observed in 5. 7% of obese individuals and none in non-obese group.", "output": {"entities": {"gene": [{"text": "APO", "start": 11, "end": 14}], "disease": [{"text": "obese", "start": 59, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich' s ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system.", "output": {"entities": {"gene": [{"text": "DCYTB", "start": 115, "end": 120}], "disease": [{"text": "neurodegeneration", "start": 208, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "There was also an increase in CAT activity in M and Turner' syndrome.", "output": {"entities": {"gene": [{"text": "CAT", "start": 30, "end": 33}], "disease": [{"text": "Turner' syndrome", "start": 52, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAT", "start": 30, "end": 33}, "tail": {"text": "Turner' syndrome", "start": 52, "end": 68}}]}}, "schema": []}
{"input": "In three separate families with progressive symmetric erythrokeratodermia, we identified two missense mutations (c. 3099C & gt; G and c. 3119T & gt; C) that produce p. Ile1033Met and p. Ile1040Thr, both of which are located in the S6 transmembrane domain of the TRPM4 protein.", "output": {"entities": {"gene": [{"text": "TRPM4", "start": 262, "end": 267}], "disease": [{"text": "progressive symmetric erythrokeratodermia", "start": 32, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPM4", "start": 262, "end": 267}, "tail": {"text": "progressive symmetric erythrokeratodermia", "start": 32, "end": 73}}]}}, "schema": []}
{"input": "We report a comparative analysis of the pattern of association of four genetic polymorphisms with bronchial asthma (Th2 disease) and Crohn' s disease (CD; Th1 disease).", "output": {"entities": {"gene": [{"text": "Th1", "start": 155, "end": 158}], "disease": [{"text": "bronchial asthma", "start": 98, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Instead, loss of REDD1 induces HIF-1 stabilization and tumorigenesis through a reactive oxygen species (ROS)-dependent mechanism.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 31, "end": 36}], "disease": [{"text": "tumorigenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Although considerable controversy remains regarding its pathogenesis, TDI-induced asthma is an inflammatory disease of the airways characterized by airway remodeling caused, at least in part, by an excess of extracellular matrix deposition in the airway wall.", "output": {"entities": {"gene": [{"text": "TDI", "start": 70, "end": 73}], "disease": [{"text": "airway remodeling", "start": 148, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigate the prognostic significance of CCND1 and EMSY amplification in a large series of breast carcinomas and in BRCA1 and BRCA2 mutation positive breast cancers.", "output": {"entities": {"gene": [{"text": "EMSY", "start": 62, "end": 66}], "disease": [{"text": "breast carcinomas", "start": 102, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EMSY", "start": 62, "end": 66}, "tail": {"text": "breast carcinomas", "start": 102, "end": 119}}]}}, "schema": []}
{"input": "Mice were sacrificed for corticotropin-releasing hormone mRNA in situ hybridization and neuropeptide Y immunohistochemistry, when the tumor ratio reached to 11-13% of real body weight.", "output": {"entities": {"gene": [{"text": "neuropeptide Y", "start": 88, "end": 102}], "disease": [{"text": "body weight", "start": 172, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "In a joint analysis with a bipolar disorder sample (16, 374 affected individuals and 14, 044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7. 0 & #215; 10 (-9)), ANK3 (rs10994359, P = 2. 5 & #215; 10 (-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7. 8 & #215; 10 (-9)).", "output": {"entities": {"gene": [{"text": "ITIH4", "start": 254, "end": 259}], "disease": [{"text": "bipolar disorder", "start": 27, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITIH4", "start": 254, "end": 259}, "tail": {"text": "bipolar disorder", "start": 27, "end": 43}}]}}, "schema": []}
{"input": "Furthermore, restoration of ZEB2 effectively reversed the reduced expression of ZEB2, as well as the suppressive effects of miR‑200b overexpression on the proliferation, migration, invasion and EMT in glioma U251 and U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 217, "end": 220}], "disease": [{"text": "glioma", "start": 201, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Histo-pathological features and molecular changes [KRAS, BRAF and CTNNB1 genes mutations, microsatellite instability (MSI) phenotype, expression of mismatch repair (MMR) and mucin (MUC) 5AC proteins, mutation and expression analysis of TP53, MLH1 promoter hypermethylation analysis] were examined in a series of 51 unselected Tunisian CRC patients, 10 of them had a proven or probable hereditary disease, on the track of new tumoral markers for CRC susceptibility in Tunisian patients.", "output": {"entities": {"gene": [{"text": "MMR", "start": 165, "end": 168}], "disease": [{"text": "microsatellite instability", "start": 90, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In 2011 he developed jaundice, pruritus and epigastric pain. He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14, 600, 000 IU/mL).", "output": {"entities": {"gene": [{"text": "GGT", "start": 107, "end": 110}], "disease": [{"text": "viral load", "start": 149, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Pooled-data analysis of 4 large cohorts of newly diagnosed CRC probands recruited between 1994 and 2010 (n = 10, 206) from the Colon Cancer Family Registry, the EPICOLON project, the Ohio State University, and the University of Helsinki examining personal, tumor-related, and family characteristics, as well as microsatellite instability, tumor MMR immunostaining, and germline MMR mutational status data.", "output": {"entities": {"gene": [{"text": "MMR", "start": 345, "end": 348}], "disease": [{"text": "microsatellite instability", "start": 311, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "This was accompanied by increased expression of the downstream target genes Bcl-2/adenovirus E1B 19 kD-interacting protein 3 (BNIP3), Glut-1, and vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 126, "end": 131}], "disease": [{"text": "adenovirus", "start": 82, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that, and that hypoxia counteracts this cell death via at least two distinct mechanisms: repression of CHOP and induction of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 142, "end": 146}], "disease": [{"text": "hypoxia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Deletions and mutations in exons 1 to 9 of the PTEN gene were evaluated by polymerase chain reaction-single strand conformation polymorphism and sequencing analysis in esophageal acanthosis, gastric polyps, colonic polyps, skin lesions, and peripheral blood mononuclear cells.", "output": {"entities": {"gene": [{"text": "PTEN gene", "start": 47, "end": 56}], "disease": [{"text": "acanthosis", "start": 179, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Analysis of this locus may be useful diagnostically, as it occasionally may be the only molecular marker of clonality in mature T-cell lymphomas T-cell receptor delta chain gene rearrangement also is found most often in lymphomas of the large cell anaplastic type.", "output": {"entities": {"gene": [{"text": "T-cell receptor delta chain gene", "start": 145, "end": 177}], "disease": [{"text": "lymphomas", "start": 135, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The nSTZ diabetic rats showed hyperglycemia, increases in food and water intake, loss of body weight gain and decrease of the number of insulin-positive cells and the size of beta-cells in pancreas and mRNA of GLUT-4 in soleus muscle and increase of hepatic PEPCK mRNA expression.", "output": {"entities": {"gene": [{"text": "PEPCK", "start": 258, "end": 263}], "disease": [{"text": "body weight gain", "start": 89, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We describe a male patient with extreme short stature, learning difficulties, anterior pituitary hypoplasia, secondary hypothyroidism and undetectable prolactin, growth hormone (GH) and insulin-like growth factor 1 (IGF1), with normal random cortisol.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 216, "end": 220}], "disease": [{"text": "anterior pituitary hypoplasia", "start": 78, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Depletion of DNMT1 did not induce cellular invasion in MCF-7 and ZR-75-1 non-invasive breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 13, "end": 18}], "disease": [{"text": "invasive breast cancer", "start": 77, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "From January 1990 to January 2009, 24 patients (22 achondroplasia, 2 hypochondroplasia; 13 boys, 11 girls; age 8 days to 15 years, median age 3. 0 years) were examined, including a semi-structured interview, a clinical examination, and a polysomnographic sleep recording (65 polysomnographic sleep recordings (PSG) in 24 patients).", "output": {"entities": {"gene": [{"text": "PSG", "start": 310, "end": 313}], "disease": [{"text": "hypochondroplasia", "start": 69, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In addition, it also expands the knowledge of LHX3-related CPHD3 phenotype and the allelic spectrum for this gene.", "output": {"entities": {"gene": [{"text": "LHX3", "start": 46, "end": 50}], "disease": [{"text": "CPHD3", "start": 59, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LHX3", "start": 46, "end": 50}, "tail": {"text": "CPHD3", "start": 59, "end": 64}}]}}, "schema": []}
{"input": "These results indicate that a combination treatment of UCMS-IFN-beta cells and 5-FU is a potentially effective therapeutic procedure for breast cancer.", "output": {"entities": {"gene": [{"text": "IFN-beta", "start": 60, "end": 68}], "disease": [{"text": "breast cancer", "start": 137, "end": 150}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IFN-beta", "start": 60, "end": 68}, "tail": {"text": "breast cancer", "start": 137, "end": 150}}]}}, "schema": []}
{"input": "Nearly all BLs contain rearrangements of the MYC/8q24 region; however, recent cytogenetic studies suggest that certain secondary chromosomal aberrations in BL correlate with an adverse prognosis.", "output": {"entities": {"gene": [{"text": "MYC", "start": 45, "end": 48}], "disease": [{"text": "chromosomal aberrations", "start": 129, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The PROP1 gene is involved in anterior pituitary cell lineage specification and is commonly implicated in non-syndromic combined pituitary hormone deficiency (CPHD).", "output": {"entities": {"gene": [{"text": "PROP1 gene", "start": 4, "end": 14}], "disease": [{"text": "pituitary hormone deficiency", "start": 129, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Altered editing in cyclic nucleotide phosphodiesterase 8A1 gene transcripts of systemic lupus erythematosus T lymphocytes.", "output": {"entities": {"gene": [{"text": "cyclic nucleotide phosphodiesterase", "start": 19, "end": 54}], "disease": [{"text": "systemic lupus erythematosus", "start": 79, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We report here the identification of nine novel IGHMBP2 mutations in five SMARD1 patients, including seven missense [c. 587A & gt; G (p. Gln196Arg), c. 647C & gt; T (p. Pro216Leu), c. 752T & gt; C (p. Leu251Pro), c. 1693G & gt; A (p. Asp565Asn), c. 1730T & gt; C (p. Leu577Pro), c. 1807C & gt; T (p. Arg603Cys), c. 1909C & gt; T (p. Arg637Cys)] and two nonsense mutations [c. 1488C & gt; A (p. Cys496X), c. 2368C & gt; T (p. Arg790X)].", "output": {"entities": {"gene": [{"text": "IGHMBP2", "start": 48, "end": 55}], "disease": [{"text": "SMARD1", "start": 74, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IGHMBP2", "start": 48, "end": 55}, "tail": {"text": "SMARD1", "start": 74, "end": 80}}]}}, "schema": []}
{"input": "Grhl2 was not detected in mesenchyme in intraperitoneal bleomycin-induced injury as well as in spontaneously occurring fibrosis in double-mutant HPS1 and HPS2 mice, whereas in contrast in a radiation-induced fibrosis model, with forced Forkhead box M1 (Foxm1) expression, an overlap of Grhl2 with a mesenchymal marker was observed in fibrotic regions.", "output": {"entities": {"gene": [{"text": "Grhl2", "start": 0, "end": 5}], "disease": [{"text": "fibrosis", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45, X/46, XY disorder of sex development and variants.", "output": {"entities": {"gene": [{"text": "SRY", "start": 12, "end": 15}], "disease": [{"text": "45, X/46, XY disorder of sex development", "start": 81, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SRY", "start": 12, "end": 15}, "tail": {"text": "45, X/46, XY disorder of sex development", "start": 81, "end": 121}}]}}, "schema": []}
{"input": "Surprisingly, β (II)-spectrin, previously thought to mediate ankyrin-dependent modulation in the nervous system and heart, is not coordinately regulated with ankyrin-B or its downstream partners.", "output": {"entities": {"gene": [{"text": "ankyrin-B", "start": 158, "end": 167}], "disease": [{"text": "nervous system", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In erosive gastritis, increased proliferation (MET) and transport (UCP2, SCFD1, KPNA4) were found, while genes associated with adhesion (SIGLEC11), transcription regulation (ESRRG), and electron and ion transport (ACADM, CLIC6) were down-regulated.", "output": {"entities": {"gene": [{"text": "CLIC6", "start": 221, "end": 226}], "disease": [{"text": "adhesion", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Our results strongly suggest that in C6 glioma cells a complex array of trans-acting factors facilitates full transcriptional induction of VEGF gene expression by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 139, "end": 143}], "disease": [{"text": "hypoxia", "start": 163, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Double-labelling revealed colocalization of GADD34 and PCNA in some cells within the peri-infarct zone and in the ependymal cells lining the ventricles.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 55, "end": 59}], "disease": [{"text": "infarct", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We propose that hypoxia-induced VEGF release promotes tumor progression, especially in melanomas with Ras or p53 mutations.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 32, "end": 36}], "disease": [{"text": "hypoxia", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We genotyped 586 cervical cancer patients for the two most common FLG mutations, R501X and 2282del4, using blood from the Copenhagen Hospital Biobank, Denmark.", "output": {"entities": {"gene": [{"text": "FLG", "start": 66, "end": 69}], "disease": [{"text": "cervical cancer", "start": 17, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "pVHL was not quantifiable. HIF-1alpha and VEGF-121 participate in adaptation to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 42, "end": 46}], "disease": [{"text": "hypoxia", "start": 80, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Moreover, RBPMS2 levels were 64-fold higher in GIST samples with high risk of aggressive behavior than in adult control gastrointestinal samples and 6. 2-fold higher in high risk than in low risk GIST specimens.", "output": {"entities": {"gene": [{"text": "RBPMS2", "start": 10, "end": 16}], "disease": [{"text": "aggressive behavior", "start": 78, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The expression of CYP1B1 in hyperplasia, SCCs in situ, or in association with inflammation may increase the production of carcinogenic metabolites, which may promote esophageal tumorigenesis.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 18, "end": 24}], "disease": [{"text": "hyperplasia", "start": 28, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Saitohin, which is nested in the tau locus and confers allele-specific susceptibility to several neurodegenerative diseases, interacts with peroxiredoxin 6.", "output": {"entities": {"gene": [{"text": "peroxiredoxin 6", "start": 140, "end": 155}], "disease": [{"text": "neurodegenerative diseases", "start": 97, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8).", "output": {"entities": {"gene": [{"text": "VBP1", "start": 254, "end": 258}], "disease": [{"text": "leiomyoma", "start": 46, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Exposure of mice to AZT for 5 weeks produced marked anemia, thrombocytopenia, neutropenia, and weight loss, whereas mice that received Epo and heme for 3 subsequent weeks showed significant alleviation of AZT cytotoxicity.", "output": {"entities": {"gene": [{"text": "Epo", "start": 135, "end": 138}], "disease": [{"text": "weight loss", "start": 95, "end": 106}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Epo", "start": 135, "end": 138}, "tail": {"text": "weight loss", "start": 95, "end": 106}}]}}, "schema": []}
{"input": "However, there is little genetic evidence that overexpression or knockout of the NPY gene leads to altered body weight regulation.", "output": {"entities": {"gene": [{"text": "NPY gene", "start": 81, "end": 89}], "disease": [{"text": "body weight", "start": 107, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "To further this discussion, we screened the largest investigated cohort of patients with early-onset bladder cancer for microsatellite instability (MSI) and mismatch repair (MMR) deficiency to determine a possible role of Lynch syndrome in young patients with bladder cancer.", "output": {"entities": {"gene": [{"text": "MMR", "start": 174, "end": 177}], "disease": [{"text": "microsatellite instability", "start": 120, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "At the age of 6 months, one patient' s eyes already had a refractive error of + 12. 25 D, and over the next 20 years this slowly increased to + 17. 50 D. Adults homozygous for null mutations in MFRP have eyes with axial lengths shorter than those of normal newborns.", "output": {"entities": {"gene": [{"text": "MFRP", "start": 194, "end": 198}], "disease": [{"text": "refractive error", "start": 58, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Although ERG abnormalities were detected in all patients tested, more than 40% of patients with RS1 mutations did not have a negative ERG.", "output": {"entities": {"gene": [{"text": "ERG", "start": 9, "end": 12}], "disease": [{"text": "abnormalities", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The RUNX1/AML1 gene is known to be the most frequent target for chromosomal translocation in leukemia.", "output": {"entities": {"gene": [{"text": "AML1", "start": 10, "end": 14}], "disease": [{"text": "chromosomal translocation", "start": 64, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The extracellular calcium Ca2 + o-sensing receptor is expressed in myeloma cells and modulates cell proliferation.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 26, "end": 29}], "disease": [{"text": "myeloma", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Here we report the effect of Pak1 on atherogenesis using atherosclerosis-prone apolipoprotein E-deficient (ApoE (-/-)) mice as a model.", "output": {"entities": {"gene": [{"text": "Pak1", "start": 29, "end": 33}], "disease": [{"text": "atherogenesis", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "At least one possible candidate gene for manic depressive illness, pro-melanin-concentrating hormone, is located on chromosome 12q23-q24.", "output": {"entities": {"gene": [{"text": "pro-melanin-concentrating hormone", "start": 67, "end": 100}], "disease": [{"text": "manic depressive illness", "start": 41, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pro-melanin-concentrating hormone", "start": 67, "end": 100}, "tail": {"text": "manic depressive illness", "start": 41, "end": 65}}]}}, "schema": []}
{"input": "It has now been well documented that magnetic resonance imaging (MRI) of the breast has a higher sensitivity than mammography for the diagnosis of breast cancer in patients predisposed to breast cancer.", "output": {"entities": {"gene": [{"text": "MRI", "start": 65, "end": 68}], "disease": [{"text": "breast cancer", "start": 147, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "ACHE knock-out mice were found to suffer normocytic anemia.", "output": {"entities": {"gene": [{"text": "ACHE", "start": 0, "end": 4}], "disease": [{"text": "anemia", "start": 52, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACHE", "start": 0, "end": 4}, "tail": {"text": "anemia", "start": 52, "end": 58}}]}}, "schema": []}
{"input": "Neither COMT nor PRODH mRNA abundance differed between diagnostic groups, nor when controls were compared with all psychotic patients.", "output": {"entities": {"gene": [{"text": "PRODH", "start": 17, "end": 22}], "disease": [{"text": "psychotic", "start": 115, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "There were significant differences between infertility and GSTM1, CYP1A1 (*) 2C genotypes by univariate analyses.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 66, "end": 72}], "disease": [{"text": "infertility", "start": 43, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, LIPH protein was upregulated in the serum of early-and late-phase lung cancer patients when they were analyzed by ELISA.", "output": {"entities": {"gene": [{"text": "LIPH", "start": 13, "end": 17}], "disease": [{"text": "lung cancer", "start": 79, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that TGF-β-induced EMT and CD59 expression confers an immune-evasive mechanism to disseminating tumor cells facilitating tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 45, "end": 48}], "disease": [{"text": "tumor progression", "start": 147, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Low oxygen (hypoxia) and transforming growth factor-β (TGF-β) are two major factors responsible for increased VEGF secretion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 110, "end": 114}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "PAFR is a G-protein coupled receptor which binds PAF, a potent phospholipid activator involved in many leucocyte functions, platelet aggregation and inflammation.", "output": {"entities": {"gene": [{"text": "PAFR", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 149, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In this study, we focus on ES with ERG gene abnormalities, specifically to investigate the prevalence and clinicopathologic features of FUS-ERG fusions in a large cohort of small blue round cell tumors (SBRCTs) and compare to the eight reported FUS-positive ES.", "output": {"entities": {"gene": [{"text": "ERG", "start": 35, "end": 38}], "disease": [{"text": "abnormalities", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Proteome analysis of human androgen-independent prostate cancer cell lines: variable metastatic potentials correlated with vimentin expression.", "output": {"entities": {"gene": [{"text": "vimentin", "start": 123, "end": 131}], "disease": [{"text": "prostate cancer", "start": 48, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vimentin", "start": 123, "end": 131}, "tail": {"text": "prostate cancer", "start": 48, "end": 63}}]}}, "schema": []}
{"input": "Among these miRNAs, downregulation of miR-638 was found in 68% (34/50) of NSCLC tissues.", "output": {"entities": {"gene": [{"text": "miR-638", "start": 38, "end": 45}], "disease": [{"text": "NSCLC", "start": 74, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-638", "start": 38, "end": 45}, "tail": {"text": "NSCLC", "start": 74, "end": 79}}]}}, "schema": []}
{"input": "Importantly, coexpression of human parkin in LRRK2 G2019S-expressing flies provides significant protection against DA neurodegeneration that occurs with age or in response to rotenone.", "output": {"entities": {"gene": [{"text": "LRRK2", "start": 45, "end": 50}], "disease": [{"text": "neurodegeneration", "start": 118, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LRRK2", "start": 45, "end": 50}, "tail": {"text": "neurodegeneration", "start": 118, "end": 135}}]}}, "schema": []}
{"input": "In this study, we investigated the effect of resveratrol, a natural product commonly found in grapes and various other fruits, on hypoxia-induced HIF-1alpha protein accumulation and vascular endothelial growth factor (VEGF) expression in human tongue squamous cell carcinomas and hepatoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 218, "end": 222}], "disease": [{"text": "hypoxia", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Our findings demonstrate that ATP7B trafficking is regulated with its copper-translocation cycle, with cytosolic vesicular localization associated with the acyl-phosphate intermediate.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 30, "end": 35}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The number of podocytes per glomerular section and the podocyte density in glomeruli from rats and mice with streptozotocin (STZ)-diabetes mellitus was determined at several time points based on detection of the glomerular podocyte specific antigens, WT-1 and GLEPP1.", "output": {"entities": {"gene": [{"text": "GLEPP1", "start": 260, "end": 266}], "disease": [{"text": "diabetes mellitus", "start": 130, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Soluble mast-cell growth factor may cause the characteristic accumulation of mast cells and the hyperpigmentation of skin found in cutaneous mastocytosis.", "output": {"entities": {"gene": [{"text": "mast-cell growth factor", "start": 8, "end": 31}], "disease": [{"text": "hyperpigmentation of skin", "start": 96, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Nine lymphoma cell lines, 62 NHL samples including 31 diffuse large B-cell lymphomas (DLBCLs), and 10 benign hyperplastic lymph nodes were analyzed for FHIT transcription using RT-PCR, with DNA sequencing performed where aberrant transcripts were found.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 152, "end": 156}], "disease": [{"text": "lymphoma", "start": 5, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "NNK could induce RARβ promoter hypermethylation through upregulation of DNMT1 in esophageal squamous epithelial cells, finally leading to enhancement of cell proliferation and inhibition of apoptosis.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 72, "end": 77}], "disease": [{"text": "esophageal", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The active ALDH2 might be one of the factors influencing the individual susceptibility to TCE-induced medicamentosa-like dermatitis.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 11, "end": 16}], "disease": [{"text": "dermatitis", "start": 121, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Post-procedure, patients compared discomfort and inconvenience of MRC and colonoscopy on a visual analogue scale.", "output": {"entities": {"gene": [{"text": "MRC", "start": 66, "end": 69}], "disease": [{"text": "discomfort", "start": 34, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "This study was undertaken to clarify the associations between tumor budding, E-cadherin-catenin complex, and CD44 variant 6 abnormalities.", "output": {"entities": {"gene": [{"text": "CD44", "start": 109, "end": 113}], "disease": [{"text": "abnormalities", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Urothelial tumours from 14 patients aged 4 to 19 years were analysed, including FGFR3 and TP53 mutation screening, comparative genomic hybridization (CGH), UroVysion FISH analysis, polymerase chain reaction for human papillomavirus (HPV), microsatellite analysis using the NIH consensus panel for detection of microsatellite instability (MSI) and six markers for loss of heterozygosity on chromosome arms 9p, 9q, and 17p and immunohistochemistry for TP53, Ki-67, CK20 and the mismatch repair proteins (MRPs) hMSH2, hMLH1, and hMSH6.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 80, "end": 85}], "disease": [{"text": "microsatellite instability", "start": 310, "end": 336}]}, "relations": {}}, "schema": []}
{"input": "MLH1 and MSH2 were studied by direct sequencing in all the 99 patients, and the study of microsatellite instability and of MMR proteins expression was performed.", "output": {"entities": {"gene": [{"text": "MMR", "start": 123, "end": 126}], "disease": [{"text": "microsatellite instability", "start": 89, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Zinc finger E-box Binding homeobox 1 (ZEB1) encodes a transcription factor and is one of the epithelial-mesenchymal transition (EMT)-inducible genes that play a key role in tumor progression in various cancers.", "output": {"entities": {"gene": [{"text": "EMT", "start": 128, "end": 131}], "disease": [{"text": "tumor progression", "start": 173, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "MLLT3-MLL rearrangement was commonly the sole karyotypic abnormality at diagnosis, with many secondary chromosomal changes emerging at relapse in both subgroups.", "output": {"entities": {"gene": [{"text": "MLLT3", "start": 0, "end": 5}], "disease": [{"text": "secondary", "start": 93, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The RNA-binding protein DDX1 promotes primary microRNA maturation and inhibits ovarian tumor progression.", "output": {"entities": {"gene": [{"text": "DDX1", "start": 24, "end": 28}], "disease": [{"text": "tumor progression", "start": 87, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Then, we have investigated whether the 20mer D393-CD20 peptide spanning the splicing site might be targeted by the immune system and we have shown that D393-CD20-specific CD4 Th1 clones could directly recognize malignant B cell lines and kill autologous lymphoma B cells indicating that D393-CD20-derived epitopes are naturally processed and presented on tumor cells.", "output": {"entities": {"gene": [{"text": "Th1", "start": 175, "end": 178}], "disease": [{"text": "lymphoma", "start": 254, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "ABT-431: the diacetyl prodrug of A-86929, a potent and selective dopamine D1 receptor agonist: in vitro characterization and effects in animal models of Parkinson' s disease.", "output": {"entities": {"gene": [{"text": "dopamine D1 receptor", "start": 65, "end": 85}], "disease": [{"text": "Parkinson' s disease", "start": 153, "end": 173}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "dopamine D1 receptor", "start": 65, "end": 85}, "tail": {"text": "Parkinson' s disease", "start": 153, "end": 173}}]}}, "schema": []}
{"input": "YB-1 and ABCB5 were up regulated in the doxorubicin treated MCF-7 cells that resulted in certain degree of genomic instability that accompanied by the drug resistance phenotype.", "output": {"entities": {"gene": [{"text": "ABCB5", "start": 9, "end": 14}], "disease": [{"text": "genomic instability", "start": 107, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We propose that IL-1 and the IL-6 family of cytokines regulate YKL-40 expression during sterile inflammation via both STAT3 and RelB/p50 complexes.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 29, "end": 33}], "disease": [{"text": "sterile", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of OSM has not previously been reported in primary human brain tumors.", "output": {"entities": {"gene": [{"text": "OSM", "start": 18, "end": 21}], "disease": [{"text": "brain tumors", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Here, we analyzed the MYC and BCL2 abnormalities and other cytogenetic aberrations by fluorescence in situ hybridization (FISH) in 50 MCL patients with bone marrow involvement.", "output": {"entities": {"gene": [{"text": "MYC", "start": 22, "end": 25}], "disease": [{"text": "cytogenetic aberrations", "start": 59, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Ucf-101 pre-treatment could significantly inhibit caspases activities and cell apoptosis, reduce TNF-α and MDA levels, slightly reverse CAT activities in the brain and attenuate this CLP effect on cognitive dysfunction.", "output": {"entities": {"gene": [{"text": "CLP", "start": 183, "end": 186}], "disease": [{"text": "cognitive dysfunction", "start": 197, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that a decreased expression of the gene encoding the 5-HTT transporter, due to \" S \" promoter polymorphism, may be associated with an increased availability to experiment illegal drugs among adolescents, particularly in the subjects with more consistent aggressiveness, NS temperament and learning disabilities.", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 70, "end": 75}], "disease": [{"text": "aggressiveness", "start": 271, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "We investigated 157 drug-naive first-episode schizophrenic patients and found significantly elevated BDNF serum concentrations (by up to 34%) in patients with chronic cannabis abuse (n = 35, p < 0. 001) or multiple substance abuse (n = 20, p < 0. 001) prior to disease onset.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 101, "end": 105}], "disease": [{"text": "cannabis abuse", "start": 167, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Quantitative methylation-specific PCR (qMSP) was used to evaluate methylation of four Wnt-antagonists, SFRP2, WIF-1, DKK3 and SOX17 in 18 normal colorectal mucosa samples, 9 colorectal cancer cell lines, 18 carcinomas, 44 nonpolypoid and 44 polypoid adenomas.", "output": {"entities": {"gene": [{"text": "SOX17", "start": 126, "end": 131}], "disease": [{"text": "carcinomas", "start": 207, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "The present study sought to determine whether polymorphisms in the ID3 gene were associated with indices of atherosclerosis in humans and if loss of Id3 function modulated atherogenesis in mice.", "output": {"entities": {"gene": [{"text": "Id3", "start": 149, "end": 152}], "disease": [{"text": "atherogenesis", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.", "output": {"entities": {"gene": [{"text": "GJB2", "start": 29, "end": 33}], "disease": [{"text": "palmoplantar keratoderma with deafness", "start": 91, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJB2", "start": 29, "end": 33}, "tail": {"text": "palmoplantar keratoderma with deafness", "start": 91, "end": 129}}]}}, "schema": []}
{"input": "In addition, two target proteins that are frequently overexpressed during tongue cancer tumorigenesis, alphaB-crystallin and Hsp27, were examined by immunohistochemical analysis.", "output": {"entities": {"gene": [{"text": "Hsp27", "start": 125, "end": 130}], "disease": [{"text": "tongue cancer", "start": 74, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hsp27", "start": 125, "end": 130}, "tail": {"text": "tongue cancer", "start": 74, "end": 87}}]}}, "schema": []}
{"input": "Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.", "output": {"entities": {"gene": [{"text": "ACAD8", "start": 66, "end": 71}], "disease": [{"text": "Isobutyryl-CoA dehydrogenase deficiency", "start": 0, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACAD8", "start": 66, "end": 71}, "tail": {"text": "Isobutyryl-CoA dehydrogenase deficiency", "start": 0, "end": 39}}]}}, "schema": []}
{"input": "There was no optimal cut-off level of the bleeding score that could predict FXI deficiency.", "output": {"entities": {"gene": [{"text": "FXI", "start": 76, "end": 79}], "disease": [{"text": "bleeding", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Leptin receptor antagonist (leptin quadruple mutant) and dual endothelin A endothelin B (ETA/ETB) receptor blocker bosentan normalized such abnormalities.", "output": {"entities": {"gene": [{"text": "ETB", "start": 93, "end": 96}], "disease": [{"text": "abnormalities", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The frequency of the bcl-2/Ig gene rearrangement is estimated to be of one translocation in 1 x 10 (2) to 1 x 10 (3) peripheral blood mononuclear cells.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 21, "end": 26}], "disease": [{"text": "translocation", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The congenital hearing loss involving neurodegeneration of SGNs as well as megacolon disease in Ednrb (-/-) mice were markedly improved by introducing an Ednrb transgene under control of the dopamine β-hydroxylase promoter (Ednrb (-/-); DBH-Ednrb mice) on P19.", "output": {"entities": {"gene": [{"text": "DBH", "start": 237, "end": 240}], "disease": [{"text": "congenital hearing loss", "start": 4, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "GHRH antagonists suppress the growth of various human cancer lines xenografted into nude mice; such tumors include breast, ovarian, endometrial and prostate cancers, lung cancers (small-cell lung carcinomas and non-small-cell lung carcinomas), renal, pancreatic, gastric and colorectal carcinomas, brain tumors (malignant gliomas), osteogenic sarcomas and non-Hodgkin' s lymphomas.", "output": {"entities": {"gene": [{"text": "GHRH", "start": 0, "end": 4}], "disease": [{"text": "brain tumors", "start": 298, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "NONO and RALY proteins are required for YB-1 oxaliplatin induced resistance in colon adenocarcinoma cell lines.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 40, "end": 44}], "disease": [{"text": "colon adenocarcinoma", "start": 79, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In vitro, hypoxia-inducible expression of ADM mRNA was evaluated in human choriocarcinoma cells (BeWo) and human leukocytes exposed to hypoxia (1% O (2)) for 1-24 h. mRNA levels were measured by TaqMan real-time PCR.", "output": {"entities": {"gene": [{"text": "ADM", "start": 42, "end": 45}], "disease": [{"text": "hypoxia", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The phenotypes of the patients carrying RBFOX1 deletions comprise magnetic resonance imaging (MRI)-negative epilepsy of unknown etiology with frontal and temporal origin (n = 5) and two patients with temporal lobe epilepsy with hippocampal sclerosis.", "output": {"entities": {"gene": [{"text": "MRI", "start": 94, "end": 97}], "disease": [{"text": "temporal lobe epilepsy", "start": 200, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Targeting the ROR1 and ROR2 receptors in epithelial ovarian cancer inhibits cell migration and invasion.", "output": {"entities": {"gene": [{"text": "ROR2", "start": 23, "end": 27}], "disease": [{"text": "epithelial ovarian cancer", "start": 41, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We have been unable to find a similar disorder in the literature, and suggest that this is a hitherto unreported autosomal recessive disorder, which we propose to name MRAMS (mental retardation, anterior maxillary protrusion, and strabismus).", "output": {"entities": {"gene": [{"text": "MRAMS", "start": 168, "end": 173}], "disease": [{"text": "mental retardation, anterior maxillary protrusion, and strabismus", "start": 175, "end": 240}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MRAMS", "start": 168, "end": 173}, "tail": {"text": "mental retardation, anterior maxillary protrusion, and strabismus", "start": 175, "end": 240}}]}}, "schema": []}
{"input": "Given the role of QKI in determination of oligodendrocyte fate, these results not only confirm oligodendrocyte-related gene expression abnormalities in schizophrenia but suggest that the physiology of glial progenitor cells may be altered in schizophrenia.", "output": {"entities": {"gene": [{"text": "QKI", "start": 18, "end": 21}], "disease": [{"text": "abnormalities", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "A 34-year-old woman with balanced Robertsonian translocation [(45, XX, der (13; 14) (q10; q10)] requested PGD due to recurrent spontaneous abortion.", "output": {"entities": {"gene": [{"text": "q10", "start": 85, "end": 88}], "disease": [{"text": "spontaneous abortion", "start": 127, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "A human cDNA for amino acid transport system x (C) (-) was isolated from diethyl maleate-treated human glioma U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 110, "end": 113}], "disease": [{"text": "glioma", "start": 103, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We show here that exogenous expression of a familial AD (FAD) mutant of APP or of the APP binding protein APP-BP1 in neurons causes enlargement of early endosomes, increased receptor-mediated endocytosis via a pathway dependent on APP-BP1 binding to APP, and apoptosis.", "output": {"entities": {"gene": [{"text": "FAD", "start": 57, "end": 60}], "disease": [{"text": "enlargement", "start": 132, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To date, mutations have been identified in six genes (PIGA, PIGL, PIGM, PIGN, PIGO, and PIGV) encoding proteins in the GPI-anchor-synthesis pathway in individuals with severe neurological features, including seizures, muscular hypotonia, and intellectual disability.", "output": {"entities": {"gene": [{"text": "PIGM", "start": 66, "end": 70}], "disease": [{"text": "intellectual disability", "start": 242, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "In addition, Erbb2 dampens UV-induced S-phase arrest, augments inflammation in response to UV irradiation, and suppresses UV-induced apoptosis.", "output": {"entities": {"gene": [{"text": "Erbb2", "start": 13, "end": 18}], "disease": [{"text": "inflammation", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our experiments revealed an unexpected role for TM1/TM2 in copper-regulated trafficking of ATP7B and defined a unique class of WD mutants that are transport-competent but trafficking-defective.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 107, "end": 112}], "disease": [{"text": "WD", "start": 143, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 107, "end": 112}, "tail": {"text": "WD", "start": 143, "end": 145}}]}}, "schema": []}
{"input": "We examined genetic polymorphisms in the renin-angiotensin system (RAS) coding for angiotensin I-converting enzyme (ACE) insertion/deletion (I/D) for angiotensinogen (AGT) M235T and angiotensin II receptor type 1 (AGTR1) A1166C as predictors for the development of microalbuminuria (MA) in children with type 1 diabetes mellitus (T1DM).", "output": {"entities": {"gene": [{"text": "ACE", "start": 116, "end": 119}], "disease": [{"text": "microalbuminuria", "start": 265, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "Left ventricular dilatation and dysfunction normally seen 4 wk after doxorubicin administration were significantly mitigated in HGF-treated mice, as were the associated cardiomyocyte atrophy/degeneration and myocardial fibrosis.", "output": {"entities": {"gene": [{"text": "HGF", "start": 128, "end": 131}], "disease": [{"text": "myocardial fibrosis", "start": 208, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia is linked to epithelial-mesenchymal transition (EMT) and tumor progression in numerous carcinomas.", "output": {"entities": {"gene": [{"text": "EMT", "start": 56, "end": 59}], "disease": [{"text": "tumor progression", "start": 65, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Primary pulmonary MALT lymphomas show frequent and heterogeneous cytogenetic abnormalities, including aneuploidy and translocations involving API2 and MALT1 and IGH and MALT1.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 151, "end": 156}], "disease": [{"text": "aneuploidy", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Withdrawal symptom intensities demonstrated an inverse correlation with beta-endorphin and met-enkephalin levels, a direct linear correlation with amplitude height of the evoked potential, and blood pressure and heart rate changes.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 72, "end": 86}], "disease": [{"text": "Withdrawal symptom", "start": 0, "end": 18}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "beta-endorphin", "start": 72, "end": 86}, "tail": {"text": "Withdrawal symptom", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "Although cell migration is a key event in inflammation, few studies have addressed the function of MC1R in this context.", "output": {"entities": {"gene": [{"text": "MC1R", "start": 99, "end": 103}], "disease": [{"text": "inflammation", "start": 42, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Genetic variation in a region on chromosome 11 that contains the candidate genes AMBRA1, DGKZ, CHRM4 and MDK was significantly associated with SCZ in the combined sample (n = 11 & #8201; 540; P = 3. 89 & #215; 10 (-9), odds ratio (OR) = 1. 25).", "output": {"entities": {"gene": [{"text": "MDK", "start": 105, "end": 108}], "disease": [{"text": "SCZ", "start": 143, "end": 146}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MDK", "start": 105, "end": 108}, "tail": {"text": "SCZ", "start": 143, "end": 146}}]}}, "schema": []}
{"input": "The first patient had segmental uniparental disomy of chromosome 9, carrying 2 copies of the maternal CARD9 mutated allele.", "output": {"entities": {"gene": [{"text": "CARD9", "start": 102, "end": 107}], "disease": [{"text": "uniparental disomy", "start": 32, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Epithelial‑mesenchymal transition (EMT) is now thought to be a process that plays a fundamental role in tumor progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "TGFbeta (1)-Smads signal activation is correlated with ventricular remodeling following MI.", "output": {"entities": {"gene": [{"text": "TGFbeta", "start": 0, "end": 7}], "disease": [{"text": "ventricular remodeling", "start": 55, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGFbeta", "start": 0, "end": 7}, "tail": {"text": "ventricular remodeling", "start": 55, "end": 77}}]}}, "schema": []}
{"input": "Couple E (45, XY, der (13; 14) (q10; q10)) had a sperm count within the normal range and low levels of aneuploid spermatozoa.", "output": {"entities": {"gene": [{"text": "q10", "start": 32, "end": 35}], "disease": [{"text": "aneuploid", "start": 103, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 37, "end": 55}], "disease": [{"text": "familial lipoprotein lipase deficiency", "start": 78, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 37, "end": 55}, "tail": {"text": "familial lipoprotein lipase deficiency", "start": 78, "end": 116}}]}}, "schema": []}
{"input": "UBE2L3 is associated with susceptibility to systemic lupus erythematosus (SLE) and rheumatoid arthritis in European ancestry populations, and this locus has not been investigated fully in non-European populations.", "output": {"entities": {"gene": [{"text": "UBE2L3", "start": 0, "end": 6}], "disease": [{"text": "arthritis", "start": 94, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The serotoninergic system is believed to be involved in suicidal behavior and there is evidence of biological abnormalities of two serotonin receptors (HTR2A, HTR2C) and one serotonin transporter (5HTT) in suicide victims.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 152, "end": 157}], "disease": [{"text": "abnormalities", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "This data indicate that hypoxia could trigger other factors (such as TGF-β, KRAS or RTK) bypassing SMO to activate GLI1 directly.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 69, "end": 74}], "disease": [{"text": "hypoxia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "A total of 11 missense variants of ATP7B, originally identified in WND patients, were examined for their capacity to functionally complement a yeast mutant strain in which the yeast gene ortholog, CCC2, was disrupted.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 35, "end": 40}], "disease": [{"text": "WND", "start": 67, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 35, "end": 40}, "tail": {"text": "WND", "start": 67, "end": 70}}]}}, "schema": []}
{"input": "In conclusion, Muc5ac expression is the central event in antigen-induced mucous metaplasia, and phylogenetically conserved 5' noncoding domains control its regulation.", "output": {"entities": {"gene": [{"text": "Muc5ac", "start": 15, "end": 21}], "disease": [{"text": "metaplasia", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Bortezomib-induced \" BRCAness \" sensitizes multiple myeloma cells to PARP inhibitors.", "output": {"entities": {"gene": [{"text": "PARP", "start": 69, "end": 73}], "disease": [{"text": "multiple myeloma", "start": 43, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP", "start": 69, "end": 73}, "tail": {"text": "multiple myeloma", "start": 43, "end": 59}}]}}, "schema": []}
{"input": "Homozygous inactivation of prosaposin in mice has led to the development of a number of abnormalities in the male reproductive system, including atrophy of the prostate gland and inactivation of mitogen-activated protein kinase (MAPK) and Akt in prostate epithelial cells.", "output": {"entities": {"gene": [{"text": "prosaposin", "start": 27, "end": 37}], "disease": [{"text": "atrophy", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "MiR-21 is one of the important microRNAs associated with tumor progression and metastasis, but the molecular mechanisms underlying EMT and CSC phenotype during miR-21 contributes to migration and invasion of breast cancer cells remain to be elucidated.", "output": {"entities": {"gene": [{"text": "EMT", "start": 131, "end": 134}], "disease": [{"text": "tumor progression", "start": 57, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Neuronal apoE immunoreactivity was significantly increased in all hippocampal sectors (CA1, CA2, CA3/CA4, dentate fascia) and in the neocortex of the global ischemia group compared with controls (p < 0. 0001).", "output": {"entities": {"gene": [{"text": "CA3", "start": 97, "end": 100}], "disease": [{"text": "ischemia", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Acute laryngeal attacks were each treated with C1-INH concentrate (Berinert) at a single dose of 20 U/kg body weight.", "output": {"entities": {"gene": [{"text": "C1-INH", "start": 47, "end": 53}], "disease": [{"text": "body weight", "start": 105, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The differential diagnosis of hypercalcemia is subdivided into three broad categories: hyperproteinemia, PTH-mediated hypercalcemia, and non-PTH-mediated hypercalcemia.", "output": {"entities": {"gene": [{"text": "PTH", "start": 105, "end": 108}], "disease": [{"text": "hyperproteinemia", "start": 87, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "This induction of IPAS was dependent on the nuclear factor-κB (NF-κB) pathway and attenuated hypoxic induction of HIF-1 target genes such as tyrosine hydroxylase (TH) and vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 207, "end": 211}], "disease": [{"text": "hypoxic", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "C1-INH replacement and specific inhibition of plasma kallikrein with ecallantide have been successful in the treatment of hereditary angioedema (HAE), a more common related disorder.", "output": {"entities": {"gene": [{"text": "C1-INH", "start": 0, "end": 6}], "disease": [{"text": "hereditary angioedema", "start": 122, "end": 143}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "C1-INH", "start": 0, "end": 6}, "tail": {"text": "hereditary angioedema", "start": 122, "end": 143}}]}}, "schema": []}
{"input": "Patients with MEN 2A also develop pheochromocytoma and/or hyperparathyroidism (HPT).", "output": {"entities": {"gene": [{"text": "HPT", "start": 79, "end": 82}], "disease": [{"text": "pheochromocytoma", "start": 34, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor.", "output": {"entities": {"gene": [{"text": "orphan G protein-coupled receptor", "start": 92, "end": 125}], "disease": [{"text": "bipolar affective disorder", "start": 33, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "orphan G protein-coupled receptor", "start": 92, "end": 125}, "tail": {"text": "bipolar affective disorder", "start": 33, "end": 59}}]}}, "schema": []}
{"input": "Inappropriate in vivo expression of TF in vascular cells has been shown to be responsible for thrombotic disorders associated with a variety of pathological conditions, including gram-negative sepsis, cancer and atherosclerosis.", "output": {"entities": {"gene": [{"text": "TF", "start": 36, "end": 38}], "disease": [{"text": "thrombotic", "start": 94, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TF", "start": 36, "end": 38}, "tail": {"text": "thrombotic", "start": 94, "end": 104}}]}}, "schema": []}
{"input": "We identified a novel missense mutation in the MPO gene at codon 173 whereby tyrosine is replaced with cysteine (Y173C) that is associated with MPO deficiency and assessed its impact on MPO processing and targeting in transfectants expressing normal or mutant proteins.", "output": {"entities": {"gene": [{"text": "MPO", "start": 47, "end": 50}], "disease": [{"text": "MPO deficiency", "start": 144, "end": 158}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MPO", "start": 47, "end": 50}, "tail": {"text": "MPO deficiency", "start": 144, "end": 158}}]}}, "schema": []}
{"input": "Promoter-driven reporter studies showed the role of both hypoxia-inducible factor (HIF)-1alpha and-2alpha in VEGF transcription activation by hypoxia, because (a) overexpression of either protein by cotransfection with expression vectors resulted in VEGF promoter transactivation, which was abrogated by mutation in the HIF-binding site, and (b) targeted knockdown of HIF-1alpha/2alpha by RNA interference inhibited hypoxia-stimulated VEGF transcriptional activity and protein secretion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 109, "end": 113}], "disease": [{"text": "hypoxia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The data taken together indicate that HG shifts the immune balance toward pro-inflammatory/Th1 phenotype in mesangial cells and TECs, which might initiate and/or prolong inflammation, thereby resulting in diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "Th1", "start": 91, "end": 94}], "disease": [{"text": "diabetic nephropathy", "start": 205, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We assessed fluorescence in situ hybridization (FISH) as an alternative to Southern blot analysis for determination of N-myc gene amplification in neuroblastoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 48, "end": 52}], "disease": [{"text": "neuroblastoma", "start": 147, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "A single case of neuroblastoma was difficult to interpret by FISH due to high background debris.", "output": {"entities": {"gene": [{"text": "FISH", "start": 61, "end": 65}], "disease": [{"text": "neuroblastoma", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 77, "end": 94}], "disease": [{"text": "androgen insensitivity syndrome", "start": 117, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 77, "end": 94}, "tail": {"text": "androgen insensitivity syndrome", "start": 117, "end": 148}}]}}, "schema": []}
{"input": "Clinicopathological and molecular data (expression of Cdx2, Apc, β-catenin, E-cadherin, Fhit, p53, and human epidermal growth factor receptor-2 (Her2); HER2 and TOPO2A gene copy number; PIK3CA mutations; microsatellite instability) were correlated to cancer-specific/overall survival (CSS/OS) using a Cox model.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 76, "end": 86}], "disease": [{"text": "microsatellite instability", "start": 204, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe an important role of the TrkC-associated molecular network in the process of leukemogenesis.", "output": {"entities": {"gene": [{"text": "TrkC", "start": 43, "end": 47}], "disease": [{"text": "leukemogenesis", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The Wallerian degeneration slow strain (& lt; i & gt; WldS & lt;/i & gt;) of mice is resistant to some forms of axonal degeneration because of a triplicated fusion gene encoding the first 70 amino acids of Ufd2a, a ubiquitin-chain assembly factor, that is linked to the complete coding sequence of nicotinamide mononucleotide adenylyltransferase 1 (NMAT1).", "output": {"entities": {"gene": [{"text": "nicotinamide mononucleotide adenylyltransferase 1", "start": 298, "end": 347}], "disease": [{"text": "Wallerian degeneration", "start": 4, "end": 26}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "nicotinamide mononucleotide adenylyltransferase 1", "start": 298, "end": 347}, "tail": {"text": "Wallerian degeneration", "start": 4, "end": 26}}]}}, "schema": []}
{"input": "We assessed the role of polymorphisms in the TIM family genes and ITK in atopy, eczema, and asthma.", "output": {"entities": {"gene": [{"text": "TIM", "start": 45, "end": 48}], "disease": [{"text": "atopy", "start": 73, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In contrast, IL10 mice with ileitis had a trend toward decreased Fgf15 serum levels compared with controls and increased expression of Asbt as a negative Fxr-target gene.", "output": {"entities": {"gene": [{"text": "IL10", "start": 13, "end": 17}], "disease": [{"text": "ileitis", "start": 28, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL10", "start": 13, "end": 17}, "tail": {"text": "ileitis", "start": 28, "end": 35}}]}}, "schema": []}
{"input": "Semiquantitative RT-PCR analysis revealed that among the three members of the MT-MMP family, mRNA expression of MT2-MMP remained unchanged and that of MT3-MMP was not observed in glomeruli during the development of nephritis.", "output": {"entities": {"gene": [{"text": "MT3-MMP", "start": 151, "end": 158}], "disease": [{"text": "nephritis", "start": 215, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Many mutations in POLG, the gene that encodes pol & #947;, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO).", "output": {"entities": {"gene": [{"text": "POLG", "start": 18, "end": 22}], "disease": [{"text": "Alpers-Huttenlocher syndrome", "start": 165, "end": 193}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POLG", "start": 18, "end": 22}, "tail": {"text": "Alpers-Huttenlocher syndrome", "start": 165, "end": 193}}]}}, "schema": []}
{"input": "Ultrasonography and OCT revealed vitreous adherent to the retina, but without apparent retinal distortion or edema of the macula.", "output": {"entities": {"gene": [{"text": "OCT", "start": 20, "end": 23}], "disease": [{"text": "edema", "start": 109, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The effects of long-term smoking on endothelial nitric oxide synthase mRNA expression in human platelets as detected with real-time quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 36, "end": 69}], "disease": [{"text": "smoking", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit.", "output": {"entities": {"gene": [{"text": "mitochondrial trifunctional protein beta-subunit", "start": 104, "end": 152}], "disease": [{"text": "hepatic steatosis", "start": 58, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mitochondrial trifunctional protein beta-subunit", "start": 104, "end": 152}, "tail": {"text": "hepatic steatosis", "start": 58, "end": 75}}]}}, "schema": []}
{"input": "The coding regions and exon-intron boundaries of RINT1 were sequenced in 2024 familial breast cancer cases previously tested negative for BRCA1, BRCA2, and PALB2 mutations and 1886 population-matched cancer-free controls using HaloPlex Targeted Enrichment Assays.", "output": {"entities": {"gene": [{"text": "RINT1", "start": 49, "end": 54}], "disease": [{"text": "familial breast cancer", "start": 78, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RINT1", "start": 49, "end": 54}, "tail": {"text": "familial breast cancer", "start": 78, "end": 100}}]}}, "schema": []}
{"input": "In order to measure the expression levels of EMT markers (Snail, Slug, Twist, E-cadherin, and integrin αVβ6) and hypoxia-related genes [Hypoxia-inducible factor-1α (HIF-1α) and vascular endothelial growth factor (VEGF)] by dexamethasone, quantitative real-time polymerase chain reaction and western blot analysis were performed.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 213, "end": 217}], "disease": [{"text": "hypoxia", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Mutations in MC4R result in a distinct obesity syndrome that is inherited in a codominant manner.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 13, "end": 17}], "disease": [{"text": "obesity", "start": 39, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MC4R", "start": 13, "end": 17}, "tail": {"text": "obesity", "start": 39, "end": 46}}]}}, "schema": []}
{"input": "This DHPLC method should improve the rapidity and cost-effectiveness of alpha-Gal A mutation identification in affected males and carrier females for Fabry disease.", "output": {"entities": {"gene": [{"text": "alpha-Gal A", "start": 72, "end": 83}], "disease": [{"text": "Fabry disease", "start": 150, "end": 163}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-Gal A", "start": 72, "end": 83}, "tail": {"text": "Fabry disease", "start": 150, "end": 163}}]}}, "schema": []}
{"input": "Consistent with this, Rbfox1 expression is down-regulated in mice and cells over-expressing FRG1 as well as in FSHD patients.", "output": {"entities": {"gene": [{"text": "FRG1", "start": 92, "end": 96}], "disease": [{"text": "FSHD", "start": 111, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FRG1", "start": 92, "end": 96}, "tail": {"text": "FSHD", "start": 111, "end": 115}}]}}, "schema": []}
{"input": "We found that PTPA located in the integral membrane of mitochondria, and knockdown of PTPA induced cell apoptosis in HEK293 and N2a cell lines by decreasing mitochondrial membrane potential, which leads to translocation of Bax and a simultaneous release of Cyt C. In the cells with tau over-expression, PTPA knockdown inactivated PP2A to phosphorylate tau to avoid cell apoptosis which induced by PTPA knockdown.", "output": {"entities": {"gene": [{"text": "PTPA", "start": 14, "end": 18}], "disease": [{"text": "translocation", "start": 206, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "A de novo missense mutation of the FUS gene in a \" true \" sporadic ALS case.", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 35, "end": 43}], "disease": [{"text": "sporadic", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "P-cadherin is a direct PAX3-FOXO1A target involved in alveolar rhabdomyosarcoma aggressiveness.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 23, "end": 27}], "disease": [{"text": "aggressiveness", "start": 80, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.", "output": {"entities": {"gene": [{"text": "Keratin 17", "start": 0, "end": 10}], "disease": [{"text": "pachyonychia congenita type 2", "start": 61, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Keratin 17", "start": 0, "end": 10}, "tail": {"text": "pachyonychia congenita type 2", "start": 61, "end": 90}}]}}, "schema": []}
{"input": "Mechanistically, LSD1 promotes β-catenin activation by inhibiting the expression of several suppressors of β-catenin signaling, especially Prickle1 and APC in Lgr5 (+) CICs, by directly regulating the levels of mono-and di-methylation of histone H3 lysine-4 at the promoters of these genes.", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 31, "end": 40}], "disease": [{"text": "mono", "start": 211, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "This prolonged EGFR activation resulted in extended p42/44 MAPK activation in cholangiocarcinoma cells.", "output": {"entities": {"gene": [{"text": "p42", "start": 52, "end": 55}], "disease": [{"text": "cholangiocarcinoma", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Numerous recent studies have recognized the importance of a cutaneous CCS variant that can mimic a broad spectrum of entities, including spindle cell melanoma, spindle cell squamous carcinoma, cutaneous leiomyosarcoma and atypical fibroxanthoma.", "output": {"entities": {"gene": [{"text": "CCS", "start": 70, "end": 73}], "disease": [{"text": "cutaneous leiomyosarcoma", "start": 193, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Thus, the SUR encoding gene is a plausible candidate for a primary pancreatic beta-cell defect and thus for hyperglycemia and weight gain.", "output": {"entities": {"gene": [{"text": "SUR", "start": 10, "end": 13}], "disease": [{"text": "weight gain", "start": 126, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle wasting disease caused by the absence of a muscle cytoskeletal protein, dystrophin.", "output": {"entities": {"gene": [{"text": "cytoskeletal protein", "start": 116, "end": 136}], "disease": [{"text": "muscle wasting", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The cell death was accompanied by several specific features characteristic of autophagy: presence of numerous autophagic vacuoles in the cytoplasm, development of the acidic vesicular organelles, autophagosome membrane association of microtubule-associated protein light chain 3 (LC3), and a marked increase in expression levels of two forms of LC3 protein (LC3-I and LC3-II).", "output": {"entities": {"gene": [{"text": "LC3", "start": 280, "end": 283}], "disease": [{"text": "autophagic vacuoles", "start": 110, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?", "output": {"entities": {"gene": [{"text": "VG5Q", "start": 23, "end": 27}], "disease": [{"text": "overgrowth", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "PVTL-1 is positive for CD7, CD13, CD33, CD34, CD117, HLA-DR, and MPO, and has complex karyotypic abnormalities, 44, XX,-5q,-7,-8, add (11) (p11. 2), add (11) (q23),-16, + 21,-22, + mar1.", "output": {"entities": {"gene": [{"text": "MPO", "start": 65, "end": 68}], "disease": [{"text": "abnormalities", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "There have been no reports evaluating double-stranded RNA-activated protein kinase (PKR) in thyroid carcinomas.", "output": {"entities": {"gene": [{"text": "PKR", "start": 84, "end": 87}], "disease": [{"text": "carcinomas", "start": 100, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.", "output": {"entities": {"gene": [{"text": "protein C", "start": 38, "end": 47}], "disease": [{"text": "distal arthrogryposis", "start": 61, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "DNA extracted from 20 clinical blood samples of patients with gout was used to evaluate the effectiveness of the two LAMP primer sets for the detection of HLA-B * 58: 01.", "output": {"entities": {"gene": [{"text": "LAMP", "start": 117, "end": 121}], "disease": [{"text": "gout", "start": 62, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The intensity of NOS2 and NOS3 gene expression observed in athlete' s heart was similar to dilated cardiomyopathy with low LV diastolic stiffness-modulus and preserved LV stroke work.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 17, "end": 21}], "disease": [{"text": "dilated cardiomyopathy", "start": 91, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the coding sequences and exon-intron boundaries of GLIALCAM, encoding an IgG-like cell adhesion protein, in 81 individuals with Autism Spectrum Disorders, either with or without comorbid epilepsy, paroxysmal EEG and/or macrocephaly, and the PTEN gene in the subsample with macrocephaly.", "output": {"entities": {"gene": [{"text": "GLIALCAM", "start": 63, "end": 71}], "disease": [{"text": "epilepsy", "start": 199, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "We investigated the expression and prognostic associations of seven CAC in patients with pancreatic cancer.", "output": {"entities": {"gene": [{"text": "CAC", "start": 68, "end": 71}], "disease": [{"text": "pancreatic cancer", "start": 89, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We detected the XPC protein in 46 (43%) of 107 pathological LADC samples.", "output": {"entities": {"gene": [{"text": "XPC", "start": 16, "end": 19}], "disease": [{"text": "LADC", "start": 60, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XPC", "start": 16, "end": 19}, "tail": {"text": "LADC", "start": 60, "end": 64}}]}}, "schema": []}
{"input": "CEBPA-silenced leukemias also displayed marked hypermethylation compared with normal CD34 (+) hematopoietic cells, whereas CEBPA mutant cases showed only mild changes in DNA methylation compared with these normal progenitors.", "output": {"entities": {"gene": [{"text": "CD34", "start": 85, "end": 89}], "disease": [{"text": "mild", "start": 154, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In both endometrial hyperplasia and cancer, the expression of P57 (kip2) protein was low.", "output": {"entities": {"gene": [{"text": "kip2", "start": 67, "end": 71}], "disease": [{"text": "endometrial hyperplasia", "start": 8, "end": 31}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "kip2", "start": 67, "end": 71}, "tail": {"text": "endometrial hyperplasia", "start": 8, "end": 31}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization analysis demonstrated absolute specificity of YWHAE-FAM22A/B genetic rearrangement for high-grade ESS, with no fusions detected in other uterine and nonuterine mesenchymal tumors (55 tumor types, n = 827).", "output": {"entities": {"gene": [{"text": "FAM22A", "start": 87, "end": 93}], "disease": [{"text": "ESS", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM22A", "start": 87, "end": 93}, "tail": {"text": "ESS", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "Our findings suggested that autophagy conferred the TNF-α protection against serum starvation-mediated apoptosis of hepatocellular carcinoma cells, the mechanism involved with the activation of the TNF-α/NF-κB/FHC signaling pathway.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 52, "end": 57}], "disease": [{"text": "starvation", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In both SpakT243A/+ and Osr1T185A/+ knock-in db/db mice, which carry mutations that disrupt the signal from WNK kinases, increased phosphorylation of NCC and elevated blood pressure were completely corrected, indicating that phosphorylation of SPAK and OSR1 by WNK kinases is required for the increased activation and phosphorylation of NCC in this model.", "output": {"entities": {"gene": [{"text": "NCC", "start": 150, "end": 153}], "disease": [{"text": "blood pressure", "start": 167, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Recently, a gene mapped to Xq13 termed HOPA has been found to be associated with mental retardation, hypothyroidism, and depression and to function as a coactivator for the thyroid receptor.", "output": {"entities": {"gene": [{"text": "HOPA", "start": 39, "end": 43}], "disease": [{"text": "depression", "start": 121, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOPA", "start": 39, "end": 43}, "tail": {"text": "depression", "start": 121, "end": 131}}]}}, "schema": []}
{"input": "To evaluate the hormone receptor contents of Japanese FBCs, we collected a consecutive series of 250 FBCs and 2, 533 sporadic breast cancers (SBCs).", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 16, "end": 32}], "disease": [{"text": "sporadic", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "p63 drives the expression of many target genes involved in cell survival, adhesion, migration and cancer.", "output": {"entities": {"gene": [{"text": "p63", "start": 0, "end": 3}], "disease": [{"text": "adhesion", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "No germline mutations were initially detected in the SDHB, SDHC, SDHD, VHL, and PHD2 genes, known to be associated with polycythemia.", "output": {"entities": {"gene": [{"text": "SDHB", "start": 53, "end": 57}], "disease": [{"text": "polycythemia", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "A case-control study was designed to investigate the effects of eight known risk factors [breast feeding, ABO incompatibility, premature birth, infection, cephalohematoma, asphyxia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and variant UDP-glucuronosyltransferase 1A1 (UGT1A1) gene] and a suspicious analog [organic anion transporter 2 (OATP 2) gene] on severe hyperbilirubinemia in Taiwanese neonates.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 280, "end": 286}], "disease": [{"text": "premature birth", "start": 127, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 149, "end": 154}], "disease": [{"text": "smoking", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Each subject underwent an evaluation of body mass index (BMI), hirsutism, acne and menstrual cycle abnormalities as well as follicular stimulating hormone (FSH), luteinizing hormone (LH), total and free testosterone, androstendione, dehydroepiandrosterone sulphate (DHEAS), sex hormone binding globulin (SHBG), fasting glucose and fasting insulin.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 304, "end": 308}], "disease": [{"text": "hirsutism", "start": 63, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Similar hormone receptor expression in BRCA1-associated ovarian cancer and matched sporadic counterparts may be further evidence that at least a proportion of sporadic ovarian tumors and BRCA1-associated tumors develop through similar pathways.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 8, "end": 24}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "At baseline, many participants (42%) exhaled CO of < or = 10 ppm, the traditional cutoff for smoking, whereas few (3. 1%) had COT below the cutoff of < or = 14 ng/mL; thus, COT seems to be a better biomarker of smoking status in this population.", "output": {"entities": {"gene": [{"text": "COT", "start": 126, "end": 129}], "disease": [{"text": "smoking", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "X-linked isolated lissencephaly sequence and subcortical band heterotopia are allelic human disorders associated with mutations of doublecortin (DCX), giving both familial and sporadic forms.", "output": {"entities": {"gene": [{"text": "DCX", "start": 145, "end": 148}], "disease": [{"text": "sporadic", "start": 176, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Age, education, cigarette smoking amount, body mass index, GSTM1 and GSTM3 genotypes were unrelated to CYP1A2 and NAT2 activity.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 114, "end": 118}], "disease": [{"text": "body mass index", "start": 42, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Here we demonstrated that LCN2 plays a pivotal role in processes involved in atherogenesis by promoting polarization and migration of monocytic cells and development of macrophages towards foam cells.", "output": {"entities": {"gene": [{"text": "LCN2", "start": 26, "end": 30}], "disease": [{"text": "atherogenesis", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Naja nigricollis CMS-9 enhances the mitochondria-mediated death pathway in adaphostin-treated human leukaemia U937 cells.", "output": {"entities": {"gene": [{"text": "CMS", "start": 17, "end": 20}], "disease": [{"text": "leukaemia", "start": 100, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The Trp64Arg polymorphism of the beta3-adrenergic receptor gene is associated with weight changes in obese Japanese men: a 4-year follow-up study.", "output": {"entities": {"gene": [{"text": "beta3", "start": 33, "end": 38}], "disease": [{"text": "weight changes", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Based on the chromosome 10 breakpoint identified by FISH and the sequences of the full-length transcripts obtained, the FAM22 members involved in the translocation in these CCSK cases include FAM22B and FAM22E.", "output": {"entities": {"gene": [{"text": "FAM22E", "start": 203, "end": 209}], "disease": [{"text": "CCSK", "start": 173, "end": 177}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM22E", "start": 203, "end": 209}, "tail": {"text": "CCSK", "start": 173, "end": 177}}]}}, "schema": []}
{"input": "This report also extends the previous findings of a new syndrome of only multiple PGLs, somatostatinomas, and polycythemia to multiple PHEOs.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 82, "end": 86}], "disease": [{"text": "polycythemia", "start": 110, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "CYP21A2 gene analyses were performed in 255 patients with severe 21-hydroxylase deficiency (21-OHD), 94 with mild 21-OHD, 752 parental samples, 233 clinically unaffected partners and 253 historic DNA samples.", "output": {"entities": {"gene": [{"text": "CYP21A2 gene", "start": 0, "end": 12}], "disease": [{"text": "mild", "start": 109, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "CYP1A1 mRNA expression level was significantly higher in residents with sinus tachycardia or bradycardia than in residents with normal heart rate (1. 47 & #215; 10 (-3) (0. 87 & #215; 10 (-3), 2. 77 & #215; 10 (-3)) vs. 1. 24 & #215; 10 (-3) (0. 64 & #215; 10 (-3), 2. 31 & #215; 10 (-3)), P & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 0, "end": 6}], "disease": [{"text": "sinus tachycardia", "start": 72, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A1", "start": 0, "end": 6}, "tail": {"text": "sinus tachycardia", "start": 72, "end": 89}}]}}, "schema": []}
{"input": "Complement-mediated hemolysis in PNH is explained by the deficiency of glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59 on erythrocyte surfaces.", "output": {"entities": {"gene": [{"text": "GPI", "start": 101, "end": 104}], "disease": [{"text": "hemolysis", "start": 20, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1, and WNT4.", "output": {"entities": {"gene": [{"text": "WNT4", "start": 201, "end": 205}], "disease": [{"text": "disorders of sex development", "start": 30, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to see whether alterations of BNIP3 protein expression and somatic mutation of the BNIP3 gene are characteristics of human cancers.", "output": {"entities": {"gene": [{"text": "BNIP3 gene", "start": 109, "end": 119}], "disease": [{"text": "somatic mutation", "start": 85, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "It is characterized by a specific chromosomal translocation, t (X; 18) (p11. 2; q11. 2), which juxtaposes the SYT gene on chromosome 18 to either the SSX1 or the SSX2 gene on chromosome X.", "output": {"entities": {"gene": [{"text": "SSX2 gene", "start": 162, "end": 171}], "disease": [{"text": "chromosomal translocation", "start": 34, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We found that Notch pathway components, including Jag1-2 ligands, Hes1-Hey1 targets and the intracellular domain of Notch1, were increased in hypoxia, as well as the phosphorylation levels of Erk1-2 and Akt.", "output": {"entities": {"gene": [{"text": "Hes1", "start": 66, "end": 70}], "disease": [{"text": "hypoxia", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Mouse models with targeted disruption of Rai1 have recapitulated overt SMS phenotypes, including craniofacial abnormalities, obesity, and neurobehavioral anomalies.", "output": {"entities": {"gene": [{"text": "Rai1", "start": 41, "end": 45}], "disease": [{"text": "obesity", "start": 125, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rai1", "start": 41, "end": 45}, "tail": {"text": "obesity", "start": 125, "end": 132}}]}}, "schema": []}
{"input": "The results confirm an involvement of the tachykinins in psychiatric disorders, suggesting there is a generalized impairment of the SP system in the amygdala in mood disorders and schizophrenia rather than this being a disease-related phenomenon.", "output": {"entities": {"gene": [{"text": "SP", "start": 132, "end": 134}], "disease": [{"text": "schizophrenia", "start": 180, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SP", "start": 132, "end": 134}, "tail": {"text": "schizophrenia", "start": 180, "end": 193}}]}}, "schema": []}
{"input": "Here, we identified a second creatine transporter (CRT2) known as monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12.", "output": {"entities": {"gene": [{"text": "CRT2", "start": 51, "end": 55}], "disease": [{"text": "glucosuria", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Fundus albipunctatus either with or without cone dystrophy is caused by mutations of the RDH5 gene.", "output": {"entities": {"gene": [{"text": "RDH5", "start": 89, "end": 93}], "disease": [{"text": "Fundus albipunctatus", "start": 0, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDH5", "start": 89, "end": 93}, "tail": {"text": "Fundus albipunctatus", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "Two hundred and twenty-three incident papillary thyroid cancer cases and 229 controls recruited from Saudi Arabian population were analyzed for 21 loci in 8 selected DNA repair genes by PCR-restriction fragment length polymorphism including non-homologous end joining pathway genes LIGIV (LIGlV ASP62HIS, PRO231SER, TRP46TER), XRCC4 Splice 33243301G > A and XRCC7 ILE3434THR; homologous recombination pathway genes XRCC3 ARG94HIS and THR241MET, RAD51 UTR 15452658T > C, 15455419A > G, RAD52 2259 and GLN221GLU, conserved DNA damage response gene Tp53 PRO47SER, PRO72ARG, Tp53 UTR 7178189A > C and base excision repair gene XRCC1 ARG194TRP, ARG280HIS, ARG399GLN, ARG559GLN.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 445, "end": 450}], "disease": [{"text": "papillary thyroid cancer", "start": 38, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Generation of autoreactive CD4 (+) effector T cells and defective production of regulatory CD4 (+) T cells inside thymomas contribute to the development of myasthenia gravis (MG) in > 90% of MG (+) thymomas.", "output": {"entities": {"gene": [{"text": "CD4", "start": 27, "end": 30}], "disease": [{"text": "myasthenia gravis", "start": 156, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "On the basis of our findings, we propose selective FAP inhibition as a potential therapeutic approach to increase endogenous FGF21 activity for the treatment of obesity, type 2 diabetes, non-alcoholic steatohepatitis, and related metabolic disorders.", "output": {"entities": {"gene": [{"text": "FGF21", "start": 125, "end": 130}], "disease": [{"text": "type 2 diabetes", "start": 170, "end": 185}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FGF21", "start": 125, "end": 130}, "tail": {"text": "type 2 diabetes", "start": 170, "end": 185}}]}}, "schema": []}
{"input": "We performed an association study between four candidate genes, DRD2, DRD3, DRD4 and 5-HT2A for the presence of tardive dyskinesia (TD) on 84 patients with residual schizophrenia.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 64, "end": 68}], "disease": [{"text": "residual schizophrenia", "start": 156, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Restricting the analyses to subjects who reported to have regularly smoked > 20 cigarettes per day at some point in their life, we used survival analysis methods to model the time from initiation of regular smoking to cessation (defined as quitting with abstinence lasting until enrollment) and its relation with eight polymorphisms in the aforementioned genes (five in DDC, two in DRD2 and one in SLC6A3) in 1446 participants.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 382, "end": 386}], "disease": [{"text": "smoking", "start": 207, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Competitive reverse transcription-polymerase chain reaction analysis showed that, regardless of feeding status, NPY mRNA levels were elevated in all tumor-bearing mice compared with sham-operated mice, although to a lesser degree than weight-matched pair-weight mice.", "output": {"entities": {"gene": [{"text": "NPY", "start": 112, "end": 115}], "disease": [{"text": "weight", "start": 235, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Prevalence of circulating CD4 + CD28null T cells is associated with early atherosclerotic damage in patients with end-stage renal disease undergoing hemodialysis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 26, "end": 29}], "disease": [{"text": "end-stage renal disease", "start": 114, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "This review summarizes studies undertaken on PTEN' s role in glucose uptake, insulin resistance, diabetes and its controversial role in GLUT (glucose transporter)-mediated glucose uptake.", "output": {"entities": {"gene": [{"text": "GLUT", "start": 136, "end": 140}], "disease": [{"text": "insulin resistance", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The miR-34a/NAMPT axis presents a potential target for treating obesity-and aging-related diseases involving SIRT1 dysfunction like steatosis and type 2 diabetes.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 109, "end": 114}], "disease": [{"text": "steatosis", "start": 132, "end": 141}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 109, "end": 114}, "tail": {"text": "steatosis", "start": 132, "end": 141}}]}}, "schema": []}
{"input": "In sharp contrast to the effect by Ad-FDAP12, transgene expression in the liver of soluble form of extracellular domain of TREM-1 as an antagonist of DAP12 signaling, remarkably inhibited zymosan A-induced granuloma formation at all time points examined.", "output": {"entities": {"gene": [{"text": "TREM-1", "start": 123, "end": 129}], "disease": [{"text": "liver", "start": 74, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TREM-1", "start": 123, "end": 129}, "tail": {"text": "liver", "start": 74, "end": 79}}]}}, "schema": []}
{"input": "We have recently shown that loss-of-function homozygous mutations of another UA transporter, GLUT9, cause a severe type of hereditary renal hypouricemia with similar complications (RHUC2).", "output": {"entities": {"gene": [{"text": "GLUT9", "start": 93, "end": 98}], "disease": [{"text": "renal hypouricemia", "start": 134, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT9", "start": 93, "end": 98}, "tail": {"text": "renal hypouricemia", "start": 134, "end": 152}}]}}, "schema": []}
{"input": "In this study, we showed that Abeta1-42 triggered autophagic cell death in both human glioma cell line (U87 cell) and human neuroblastoma cell line (SH-SY5Y cell).", "output": {"entities": {"gene": [{"text": "U87", "start": 104, "end": 107}], "disease": [{"text": "glioma", "start": 86, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "High-resolution single-nucleotide polymorphism (SNP) genotyping and analysis of this region show that haplotypes in the protein kinase c-beta gene are strongly associated with autism.", "output": {"entities": {"gene": [{"text": "protein kinase c-beta", "start": 120, "end": 141}], "disease": [{"text": "autism", "start": 176, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "protein kinase c-beta", "start": 120, "end": 141}, "tail": {"text": "autism", "start": 176, "end": 182}}]}}, "schema": []}
{"input": "PER2 is implicated in attrition in weight-loss treatment and may modulate eating-behavior-related phenotypes.", "output": {"entities": {"gene": [{"text": "PER2", "start": 0, "end": 4}], "disease": [{"text": "weight", "start": 35, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Likewise, VEGF mRNA expression was induced 3-fold by hypoxia in EGFR-inhibited U87/T691 cells, comparable with the fold induction seen in parental U87 MG cells, although the absolute level of message under hypoxia was higher in U87 MG cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 10, "end": 14}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We assessed clinical history, CBG mutation analysis, plasma CBG, salivary cortisol, body mass index, waist circumference, blood pressure, and the Krupp fatigue scale.", "output": {"entities": {"gene": [{"text": "CBG", "start": 30, "end": 33}], "disease": [{"text": "blood pressure", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Mutations in ABCA4, which encodes a photoreceptor specific ATP-binding cassette transporter (ABCR), cause autosomal recessive forms of human blindness due to retinal degeneration (RD) including Stargardt disease.", "output": {"entities": {"gene": [{"text": "Stargardt disease", "start": 194, "end": 211}], "disease": [{"text": "retinal degeneration", "start": 158, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "In the past, few treatment options were available; however, several new therapies with proven efficacy have recently become available to treat and prevent HAE attacks, such as plasma-derived and recombinant C1-INHs that replace the deficient protein, bradykinin receptor antagonist (icatibant) that blocks bradykinin activity and kallikrein inhibitor (ecallantide) that prevents bradykinin release.", "output": {"entities": {"gene": [{"text": "C1-INH", "start": 207, "end": 213}], "disease": [{"text": "HAE", "start": 155, "end": 158}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "C1-INH", "start": 207, "end": 213}, "tail": {"text": "HAE", "start": 155, "end": 158}}]}}, "schema": []}
{"input": "In addition, A549 cells expressing CRK-II serine 41 phosphomimetic mutant demonstrated more aggressive behavior in wound healing and invasion assays and, on the contrary, expression of phosphodeficient CRK-II serine 41 mutant in A549 cells resulted in reduced cell motility and invasiveness.", "output": {"entities": {"gene": [{"text": "CRK", "start": 35, "end": 38}], "disease": [{"text": "aggressive behavior", "start": 92, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the proteins encoded by the IL1RN and IL1B genes may be involved in susceptibility to alcoholism in Spanish men, probably through a different pathway from that involved in the regulation of the inflammatory response.", "output": {"entities": {"gene": [{"text": "IL1B", "start": 55, "end": 59}], "disease": [{"text": "alcoholism", "start": 103, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL1B", "start": 55, "end": 59}, "tail": {"text": "alcoholism", "start": 103, "end": 113}}]}}, "schema": []}
{"input": "AnxA1 promotes metastasis formation by enhancing TGFbeta/Smad signaling and actin reorganization, which facilitates an EMT-like switch, thereby allowing efficient cell migration and invasion of metastatic breast cancer cells.", "output": {"entities": {"gene": [{"text": "AnxA1", "start": 0, "end": 5}], "disease": [{"text": "metastasis", "start": 15, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AnxA1", "start": 0, "end": 5}, "tail": {"text": "metastasis", "start": 15, "end": 25}}]}}, "schema": []}
{"input": "Recent studies suggest that paraneoplastic pemphigus (PNP) is a heterogeneous autoimmune syndrome involving several internal organs and that the pathophysiological mechanisms mediating cutaneous, mucosal, and internal lesions are not limited to autoantibodies targeting adhesion molecules.", "output": {"entities": {"gene": [{"text": "PNP", "start": 54, "end": 57}], "disease": [{"text": "paraneoplastic pemphigus", "start": 28, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We assessed microsatellite instability, quantified DNA methylation in repetitive long interspersed nucleotide element-1 (LINE-1) by Pyrosequencing, eight CIMP-specific promoters [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1], and eight other CpG islands (CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14, and WRN) by real-time PCR (MethyLight).", "output": {"entities": {"gene": [{"text": "MINT1", "start": 305, "end": 310}], "disease": [{"text": "microsatellite instability", "start": 12, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "B-mode carotid ultrasound was performed among 3330 healthy adults in the CVDFACT cohort study, and the genetic effects of atherosclerosis-related genes including connexin37 (GJA4), C-reactive protein (CRP), paraoxonase (PON1), adiponectin (ACDC), angiotensin-converting enzyme (ACE), beta-adrenergic receptor (ADRB1, ADRB2), antithrombin III (SERPINC1), and kinesin family member 6 (KIF6) were evaluated by a multivariate regression model, adjusting for traditional vascular risk factors.", "output": {"entities": {"gene": [{"text": "SERPINC1", "start": 343, "end": 351}], "disease": [{"text": "atherosclerosis", "start": 122, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "FOP has been shown to result from a point mutation (c. 617G & gt; A) in the ACVR1 gene in almost all patients reported.", "output": {"entities": {"gene": [{"text": "ACVR1", "start": 76, "end": 81}], "disease": [{"text": "FOP", "start": 0, "end": 3}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACVR1", "start": 76, "end": 81}, "tail": {"text": "FOP", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Dysregulation of pyramidal cell network function by the soma-and axon-targeting inhibitory neurons that contain the calcium-binding protein parvalbumin (PV) represents a core pathophysiological feature of schizophrenia.", "output": {"entities": {"gene": [{"text": "calcium-binding protein", "start": 116, "end": 139}], "disease": [{"text": "schizophrenia", "start": 205, "end": 218}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "calcium-binding protein", "start": 116, "end": 139}, "tail": {"text": "schizophrenia", "start": 205, "end": 218}}]}}, "schema": []}
{"input": "When these parameters are adjusted for differences in body size, then the initial value predicts the rate of change in body weight over the subsequent years: RMR (adjusted for FFM, fat mass, age and sex), r =-0. 39, P < 0. 001; SPA, r =-0. 35, P < 0. 005 (males); RQ (adjusted for fat mass), r = 0. 24, P < 0. 01; IS (adjusted for weight), r = 0. 34, P < 0. 0001.", "output": {"entities": {"gene": [{"text": "SPA", "start": 228, "end": 231}], "disease": [{"text": "weight", "start": 124, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "These findings provide a molecular mechanism by which netrin-1 and its receptor Unc5b are expressed in atherosclerotic plaques and implicate hypoxia and HIF-1α-induced netrin-1/Unc5b in sustaining inflammation by inhibiting the emigration and promoting the survival of lesional macrophages.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 54, "end": 62}], "disease": [{"text": "hypoxia", "start": 141, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Human teratocarcinoma cells express functional insulin-like growth factor I receptors.", "output": {"entities": {"gene": [{"text": "insulin-like growth factor I", "start": 47, "end": 75}], "disease": [{"text": "teratocarcinoma", "start": 6, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Molecular testing of the FUS gene rearrangement involving chromosome 16 [at one time considered specific for low-grade fibromyxoid sarcoma (LGFMS) and its variant, LGFMS with giant collagen rosettes), may be a nonrandom abnormality in some cases of SEF. We present an example of a rare FUS-positive SEF that arose in the floor of mouth of a 56 year old male.", "output": {"entities": {"gene": [{"text": "FUS", "start": 25, "end": 28}], "disease": [{"text": "giant", "start": 175, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "The chemokine receptor CCR3 participates in tissue remodeling during atopic skin inflammation.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 23, "end": 27}], "disease": [{"text": "atopic", "start": 69, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that the p53 gene plays a crucial role in the development of malformations (exencephaly, gastroschisis, polydactyly, cleft palate and dwarfism) in control and irradiated mouse embryos.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 34, "end": 42}], "disease": [{"text": "polydactyly", "start": 129, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Correspondingly, TRPM2 expression was also increased in substantia nigra of MPTP-induced PD mouse model and PD patients.", "output": {"entities": {"gene": [{"text": "TRPM2", "start": 17, "end": 22}], "disease": [{"text": "PD", "start": 89, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPM2", "start": 17, "end": 22}, "tail": {"text": "PD", "start": 89, "end": 91}}]}}, "schema": []}
{"input": "Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.", "output": {"entities": {"gene": [{"text": "alanine/glyoxylate aminotransferase", "start": 88, "end": 123}], "disease": [{"text": "primary hyperoxaluria type 1", "start": 127, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alanine/glyoxylate aminotransferase", "start": 88, "end": 123}, "tail": {"text": "primary hyperoxaluria type 1", "start": 127, "end": 155}}]}}, "schema": []}
{"input": "Restriction fragment mapping studies of the calcitonin-CGRP gene using five restriction enzymes (TaqI, Bg/II, PvuII, PstI, and SacI) and region specific probes failed to show any abnormalities of this gene complex.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 55, "end": 59}], "disease": [{"text": "abnormalities", "start": 179, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "RNA binding protein is identified as an important mediator of aberrant alternative splicing in muscle atrophy.", "output": {"entities": {"gene": [{"text": "RNA binding protein", "start": 0, "end": 19}], "disease": [{"text": "muscle atrophy", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "], hypoxia and oxidative stress [hypoxia inducible factor 1-α subunit (HIF1A) and β-site APP-cleaving enzyme-2 (BACE2)] and endothelial dysfunction [endoglin (ENG), fms-related tyrosine kinase-1 (FLT1) and vascular endothelial growth factor (VEGF)].", "output": {"entities": {"gene": [{"text": "VEGF", "start": 242, "end": 246}], "disease": [{"text": "hypoxia", "start": 3, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Patupilone further reduced hypoxia-induced VEGF expression and secretion but only in the A549 wildtype cell line.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 43, "end": 47}], "disease": [{"text": "hypoxia", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In liver, neither the extent of phosphorylation of eIF-2 alpha nor the activity of eIF-2B was different in rats with a sterile or septic abscess compared with control.", "output": {"entities": {"gene": [{"text": "eIF-2B", "start": 83, "end": 89}], "disease": [{"text": "sterile", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "This study identified the association between type 2 diabetes risk variants in CDKAL1 and birthweight in Chinese Han individuals, and the carrier of risk allele within SRR had the trend of reduced birthweight.", "output": {"entities": {"gene": [{"text": "SRR", "start": 168, "end": 171}], "disease": [{"text": "birthweight", "start": 90, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "MIR31 significantly suppressed the luciferase activity of mRNA combined with the LATS2 3'-UTR and consequently promoted the translocation of YAP1, a key molecule in the Hippo pathway, into the nucleus.", "output": {"entities": {"gene": [{"text": "YAP1", "start": 141, "end": 145}], "disease": [{"text": "translocation", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Our study identified sporadic patients with mutations in the FUS gene.", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 61, "end": 69}], "disease": [{"text": "sporadic", "start": 21, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.", "output": {"entities": {"gene": [{"text": "gastric intrinsic factor", "start": 51, "end": 75}], "disease": [{"text": "congenital intrinsic factor deficiency", "start": 106, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gastric intrinsic factor", "start": 51, "end": 75}, "tail": {"text": "congenital intrinsic factor deficiency", "start": 106, "end": 144}}]}}, "schema": []}
{"input": "In vitro, SKOV-3 expressed N-cadherin, Snail, and MMP-9 once either CCL21 stimulation or hypoxia induction, while hypoxia accompanied with CCL21 induction exhibited strongest upregulation of N-cadherin, Snail, and MMP-9 proteins.", "output": {"entities": {"gene": [{"text": "CCL21", "start": 68, "end": 73}], "disease": [{"text": "hypoxia", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The association between plasma HIV RNA and CSF levels of HIV and beta2-microglobulin suggests that both viral load and CNS immune activation are important determinants of neurological disease.", "output": {"entities": {"gene": [{"text": "beta2", "start": 65, "end": 70}], "disease": [{"text": "viral load", "start": 104, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The results of immunohistochemistry analysis of human lung adenocarcinoma specimens showed that FGF-9 protein was detected in the adenocarcinoma cells but not in normal epithelium.", "output": {"entities": {"gene": [{"text": "FGF-9", "start": 96, "end": 101}], "disease": [{"text": "adenocarcinoma", "start": 59, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF-9", "start": 96, "end": 101}, "tail": {"text": "adenocarcinoma", "start": 59, "end": 73}}]}}, "schema": []}
{"input": "Furthermore, liver-specific-human-GNMT transgenic with Gnmt-/-(Tg-GNMT/Gnmt-/-) mice were used to rule out that the phenotype was due to abnormal liver function.", "output": {"entities": {"gene": [{"text": "Gnmt", "start": 55, "end": 59}], "disease": [{"text": "abnormal liver function", "start": 137, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "All bone marrow biopsies of JAK2 (V617F)-mutated CMML showed increased erythropoiesis, a marked myeloid and megakaryocytic hyperplasia with occasionally clustered megakaryocytes, and a mild or moderate (grade 1 or 2) fibrosis; six cases showed an increased number of dilated sinusoids and reactive lymphoid nodules.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 28, "end": 32}], "disease": [{"text": "mild", "start": 185, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "VEGF is elevated in astrocytomas under normal oxygen conditions and undergoes induction in hypoxic stress.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that COP1 and Trib1 act as an oncoprotein complex functioning upstream of C/EBPα, and its ligase activity is crucial for leukemogenesis.", "output": {"entities": {"gene": [{"text": "COP1", "start": 28, "end": 32}], "disease": [{"text": "leukemogenesis", "start": 144, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, in xenograft experiments, intracerebral implantation of glioma cells expressing full-length CAR resulted in tumors with a significantly reduced volume compared to tumors generated by control vector-transduced U87-MG cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 222, "end": 225}], "disease": [{"text": "glioma", "start": 69, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel 10 kb brain-specific cDNA interrupted by a balanced translocation in an XLIS patient that encodes a novel 40 kDa predicted protein named Doublecortin.", "output": {"entities": {"gene": [{"text": "Doublecortin", "start": 159, "end": 171}], "disease": [{"text": "XLIS", "start": 94, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Doublecortin", "start": 159, "end": 171}, "tail": {"text": "XLIS", "start": 94, "end": 98}}]}}, "schema": []}
{"input": "For the purpose of description the name' pontine tegmental cap dysplasia' (PTCD) is proposed for the present malformation, referring to its most distinguishing feature on routine MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 179, "end": 182}], "disease": [{"text": "pontine tegmental cap dysplasia", "start": 41, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "This is the first report on mutation analysis of the human alpha-galactosidase A gene in Korean patients with Fabry disease.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 59, "end": 80}], "disease": [{"text": "Fabry disease", "start": 110, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 59, "end": 80}, "tail": {"text": "Fabry disease", "start": 110, "end": 123}}]}}, "schema": []}
{"input": "Presence of anaplastic lymphoma kinase translocation in sarcomatoid carcinoma of head and neck and treatment effect of crizotinib: A case series.", "output": {"entities": {"gene": [{"text": "anaplastic lymphoma kinase", "start": 12, "end": 38}], "disease": [{"text": "carcinoma of head and neck", "start": 68, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Functional analysis of Tcl1 revealed its involvement in a PI3-kinase dependent Akt (PKB) pro-survival pathway through its interaction with the Akt kinase which increases Akt' s enzymatic activity and promotes translocation of Akt to the nucleus.", "output": {"entities": {"gene": [{"text": "Akt' s", "start": 170, "end": 176}], "disease": [{"text": "translocation", "start": 209, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "0. 7-10. 0), with two events (n = 52) an OR = 3. 8 (95% CI 1. 3-11. 5), and with three (n = 16) or four abortions (n = 6) had a combined OR = 4. 4 (95% CI 1. 2-17. 0), compared to controls, indicating that PLA2 polymorphism may be implicated in an inherited form of thrombophilia, and to early fetal loss.", "output": {"entities": {"gene": [{"text": "PLA2", "start": 206, "end": 210}], "disease": [{"text": "thrombophilia", "start": 266, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "Next, the validated qMSP was applied to an independent series of hrHPV-positive cervical scrapes of 22 women with cervical cancer, 29 with advanced CIN2/3 [i. e., women with a known preceding hrHPV infection (PHI) lasting ≥ 5 years as proxy of longer duration of lesion existence], and 19 with early CIN2/3 (i. e., PHI < 5 years).", "output": {"entities": {"gene": [{"text": "PHI", "start": 209, "end": 212}], "disease": [{"text": "cervical cancer", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Ca (2 +)-dependent activator protein for secretion 2 (CAPS2 or CADPS2) regulates dense-core vesicle (DCV) exocytosis.", "output": {"entities": {"gene": [{"text": "CADPS2", "start": 63, "end": 69}], "disease": [{"text": "vesicle", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Histologically, plaques were analyzed for plaque characteristics, ie, collagen, macrophage and SMC content, and intraplaque thrombus.", "output": {"entities": {"gene": [{"text": "SMC", "start": 95, "end": 98}], "disease": [{"text": "plaque", "start": 16, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Recent studies in LCAT deficient mouse models suggest that absence of LCAT may protect against insulin resistance, diabetes and obesity.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 18, "end": 22}], "disease": [{"text": "insulin resistance", "start": 95, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "By inter-group comparison, expression of TNF-α, IFN-γ of granulomas in the hyperplasia group was significantly higher than that of the necrosis group, while the expression of TGF-β, IL-4 of granulomas in the necrosis group was significantly higher than that of the hyperplasia group.", "output": {"entities": {"gene": [{"text": "IFN", "start": 48, "end": 51}], "disease": [{"text": "granulomas", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "This is the first mutation described in a X-CGD patient with absence of a functional cytochrome b558-spectrum but with detectable gp91-phox protein and residual NADPH-oxidase activity.", "output": {"entities": {"gene": [{"text": "gp91-phox", "start": 130, "end": 139}], "disease": [{"text": "X-CGD", "start": 42, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gp91-phox", "start": 130, "end": 139}, "tail": {"text": "X-CGD", "start": 42, "end": 47}}]}}, "schema": []}
{"input": "Although the frequency of bcl-2/IgH translocation in PBMCs from patients with chronic HCV infection is higher than that of other NHL patients, this increased translocation rate remains to be elucidated.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 26, "end": 31}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical avidin-biotin peroxidase complex method was applied to detect the expression of ATP7B in 49 cases of cardiac carcinomas, the corresponding adjacent non-neoplastic epithelium and 55 cases of distal gastric carcinomas.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 100, "end": 105}], "disease": [{"text": "non-neoplastic", "start": 168, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "NAP score is readily available from most laboratories and may be diagnostically helpful in hypophosphatasia.", "output": {"entities": {"gene": [{"text": "NAP", "start": 0, "end": 3}], "disease": [{"text": "hypophosphatasia", "start": 91, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Our findings confirm that decreased nuclear Nrf2 plays a role in myofibroblastic differentiation and that SFN induces human pulmonary fibroblast dedifferentiation in vitro via Nrf2 activation.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 44, "end": 48}], "disease": [{"text": "dedifferentiation", "start": 145, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Similar anorectic effects were observed following acute administration of exogenous TNF-& #945; and IL-1 & #946;.", "output": {"entities": {"gene": [{"text": "IL-1", "start": 100, "end": 104}], "disease": [{"text": "anorectic", "start": 8, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1", "start": 100, "end": 104}, "tail": {"text": "anorectic", "start": 8, "end": 17}}]}}, "schema": []}
{"input": "Mutations in fused in sarcoma (FUS) in a subset of patients with amyotrophic lateral sclerosis (ALS) linked this DNA/RNA-binding protein to neurodegeneration.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 117, "end": 136}], "disease": [{"text": "sarcoma", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "To study the possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene (GJB3) encoding human gap junction protein beta-3 using homologous EST searching and nested PCR.", "output": {"entities": {"gene": [{"text": "beta-3", "start": 170, "end": 176}], "disease": [{"text": "hearing impairment", "start": 88, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Thus, ectopic p185/p190 BCR-ABL expression, such as p210 BCR-ABL, PML-RARA, or C-MYC transduction, may induce an increased chromosomal instability leading to clonal karyotypic evolution, which may mimic secondary chromosome aberrations in human Ph-positive ALL.", "output": {"entities": {"gene": [{"text": "C-MYC", "start": 79, "end": 84}], "disease": [{"text": "chromosome aberrations", "start": 213, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Results showed that hypothyroidism is associated with decreased GLAST and GLT-1 immunocontent.", "output": {"entities": {"gene": [{"text": "GLAST", "start": 64, "end": 69}], "disease": [{"text": "hypothyroidism", "start": 20, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Distribution of MLXIPL genotypes were significantly different as compared with the severity of stenosis (χ2 = 6. 34; p < 0. 05).", "output": {"entities": {"gene": [{"text": "MLXIPL", "start": 16, "end": 22}], "disease": [{"text": "stenosis", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Using 98 formalin-fixed, paraffin-embedded samples obtained from patients with esophageal cancer who had received preoperative chemotherapy followed by surgery, we measured expression levels of several miRNAs that are considered to be involved in the regulation of stem cell function (e. g., let-7a, let-7g, miR-21, miR-134, miR-145, miR-155, miR-200c, miR-203, and miR-296) by real-time reverse transcriptase PCR.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 308, "end": 314}], "disease": [{"text": "esophageal cancer", "start": 79, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-21", "start": 308, "end": 314}, "tail": {"text": "esophageal cancer", "start": 79, "end": 96}}]}}, "schema": []}
{"input": "However, a protein coding transcript (ENST00000414552) of the GABA A receptor, gamma 2 (GABRG2) had lower brain expression postmortem in suicide (P = 0. 01) and evidence for association with suicide death (P = 0. 03) in a SNP that may be an eQTL in prefrontal cortex (rs424740, P = 0. 02).", "output": {"entities": {"gene": [{"text": "GABRG2", "start": 88, "end": 94}], "disease": [{"text": "suicide", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The group III family of metabotropic glutamate (mGlu) receptors (mGlu (4,) mGlu (7) and mGlu (8) receptors) remains the most poorly investigated of all glutamate receptors in this regard, despite early research efforts showing that they may be major players in stress-induced pathology, genetic vulnerability to the onset of depression and in the action of pharmacotherapies.", "output": {"entities": {"gene": [{"text": "mGlu (7", "start": 75, "end": 82}], "disease": [{"text": "depression", "start": 325, "end": 335}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGlu (7", "start": 75, "end": 82}, "tail": {"text": "depression", "start": 325, "end": 335}}]}}, "schema": []}
{"input": "The expression levels of VEGF165, Ang2 and EG-VEGF mRNA in group A were all higher than those in group C, but lower than those in group B P < 0. 05 or 0. 01.", "output": {"entities": {"gene": [{"text": "Ang2", "start": 34, "end": 38}], "disease": [{"text": "all", "start": 72, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We also found that hypoxia-induced activation of STAT3 transactivated the VEGF promoter and increased the expression of VEGF transcripts.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 74, "end": 78}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Trichostatin A, a histone deacetylase inhibitor, activates the IGFBP-3 promoter by upregulating Sp1 activity in hepatoma cells: alteration of the Sp1/Sp3/HDAC1 multiprotein complex.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 96, "end": 99}], "disease": [{"text": "hepatoma", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH) analysis confirmed a range of neuroblastoma-associated genetic changes in the various lines, in particular, gain of regions syntenic with human 17q.", "output": {"entities": {"gene": [{"text": "FISH", "start": 80, "end": 84}], "disease": [{"text": "neuroblastoma", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Mutation screening of all coding regions and flanking intron sequences of the RP1L1 gene were performed with DNA sequencing analysis in this case with OMD.", "output": {"entities": {"gene": [{"text": "RP1L1", "start": 78, "end": 83}], "disease": [{"text": "OMD", "start": 151, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RP1L1", "start": 78, "end": 83}, "tail": {"text": "OMD", "start": 151, "end": 154}}]}}, "schema": []}
{"input": "Recording from CA1 region of the hippocampus in anesthetized adult rat indicated that 6 weeks of thyroxin replacement therapy (20 microg/kg/day) fully restored LTP impaired by hypothyroidism.", "output": {"entities": {"gene": [{"text": "CA1", "start": 15, "end": 18}], "disease": [{"text": "hypothyroidism", "start": 176, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.", "output": {"entities": {"gene": [{"text": "UBIAD1", "start": 17, "end": 23}], "disease": [{"text": "Schnyder crystalline corneal dystrophy", "start": 85, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBIAD1", "start": 17, "end": 23}, "tail": {"text": "Schnyder crystalline corneal dystrophy", "start": 85, "end": 123}}]}}, "schema": []}
{"input": "Mice that lack GNMT develop fibrosis and hepatomas and have alterations in signaling pathways involved in carcinogenesis.", "output": {"entities": {"gene": [{"text": "GNMT", "start": 15, "end": 19}], "disease": [{"text": "fibrosis", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In addition, ANO1 may be a candidate target gene in esophageal tumorigenesis.", "output": {"entities": {"gene": [{"text": "ANO1", "start": 13, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The expression of DLL4 in endothelial cells was up-regulated by VEGF and basic fibroblast growth factor synergistically, and by hypoxia through hypoxia-inducible factor 1alpha.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 64, "end": 68}], "disease": [{"text": "hypoxia", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In responsive cell lines, the MI-319/sorafenib combination induced the disappearance of p53 from the nucleus, the down modulation of Bcl-2 and Bcl-xL, the translocation of p53 to the mitochondria and that of AIF to the nuclei.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 133, "end": 138}], "disease": [{"text": "translocation", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "These cases reinforce the belief that patients suffering from IRIDA have no specific geographical or ethnic distribution and are sporadic secondary to different mutations of the matriptase-2 gene.", "output": {"entities": {"gene": [{"text": "matriptase-2", "start": 178, "end": 190}], "disease": [{"text": "IRIDA", "start": 62, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "matriptase-2", "start": 178, "end": 190}, "tail": {"text": "IRIDA", "start": 62, "end": 67}}]}}, "schema": []}
{"input": "Comparative protection against rat intestinal reperfusion injury by a new inhibitor of sPLA2, COX-1 and COX-2 selective inhibitors, and an LTC4 receptor antagonist.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 87, "end": 92}], "disease": [{"text": "reperfusion injury", "start": 46, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sPLA2", "start": 87, "end": 92}, "tail": {"text": "reperfusion injury", "start": 46, "end": 64}}]}}, "schema": []}
{"input": "Our study suggests that exposure to arsenic rapidly induces a multifaceted dedifferentiation program and miR-205 has potential to be used as a marker of arsenic exposure as well as a maker of early urothelial carcinoma detection.", "output": {"entities": {"gene": [{"text": "miR-205", "start": 105, "end": 112}], "disease": [{"text": "urothelial carcinoma", "start": 198, "end": 218}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-205", "start": 105, "end": 112}, "tail": {"text": "urothelial carcinoma", "start": 198, "end": 218}}]}}, "schema": []}
{"input": "In the colon carcinoma cell line LoVo, we found that Furin is the most potent PDGF-A convertase.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 78, "end": 84}], "disease": [{"text": "colon carcinoma", "start": 7, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that mastocytoma P815 cells expressing surface TR6 (TR6-P815) effectively augmented the T cells response in vitro and ex vivo in terms of proliferation, as well as IL-2 and IFN-gamma secretion.", "output": {"entities": {"gene": [{"text": "TR6", "start": 63, "end": 66}], "disease": [{"text": "mastocytoma", "start": 21, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) is a crucial step for the invasive and metastatic properties of malignant tumor cells during tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 133, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We questioned the role of methotrexate (MTX) in the transformation of MF to large cell lymphoma (LCL).", "output": {"entities": {"gene": [{"text": "MTX", "start": 40, "end": 43}], "disease": [{"text": "large cell lymphoma", "start": 76, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In more than 90% of the patients, nosebleeds are the first predominant symptom, therefore ENT physicians often play a key role as far as diagnosis and management of the disease are concerned.", "output": {"entities": {"gene": [{"text": "ENT", "start": 90, "end": 93}], "disease": [{"text": "nosebleeds", "start": 34, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have suggested that the epithelial-to-mesenchymal transition (EMT) is necessary for tumor progression and metastases.", "output": {"entities": {"gene": [{"text": "EMT", "start": 77, "end": 80}], "disease": [{"text": "tumor progression", "start": 99, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Previously described differences in synaptic expression of neurotransmission-associated proteins (Dnm1, Hpca, Stx1, Syn1, Syn2, Syp, SNAP25, VAMP2 and 14-3-3 eta, gamma, and zeta) were confirmed between Adult and Aged rats, with no further dysregulation associated with cognitive impairment.", "output": {"entities": {"gene": [{"text": "Syn2", "start": 122, "end": 126}], "disease": [{"text": "cognitive impairment", "start": 270, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "GJB2 mutation was frequent in sporadic outpatients and its mutation frequency was significant higher in the prelingual group than in the postlingual group, whereas the mutation of mtDNA A1555G and SLC26A4 was very rare in Chinese sporadic outpatients with nonsyndromic sensorineural hearing loss (NSHL).", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 197, "end": 204}], "disease": [{"text": "sporadic", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Here we present methods for investigating the role of HIF-1alpha in glioma growth in vivo and in vitro using RNA interference in U251, U87, and U373 glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 135, "end": 138}], "disease": [{"text": "glioma", "start": 68, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The presence of germline mutations affecting the MYC-associated protein X (MAX) gene has recently been identified as one of the now 11 major genetic predisposition factors for the development of hereditary pheochromocytoma and/or paraganglioma.", "output": {"entities": {"gene": [{"text": "MAX", "start": 75, "end": 78}], "disease": [{"text": "pheochromocytoma", "start": 206, "end": 222}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAX", "start": 75, "end": 78}, "tail": {"text": "pheochromocytoma", "start": 206, "end": 222}}]}}, "schema": []}
{"input": "As the liver represents a major target organ for thyroid hormone action, we compared the expression of thyroid hormone receptor (TR) alpha and beta variants in normal human liver and liver affected by primary biliary cirrhosis, sclerosing cholangitis, cryptogenic cirrhosis, and alcoholic cirrhosis (n = 6 in each group).", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 111, "end": 127}], "disease": [{"text": "alcoholic cirrhosis", "start": 279, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "TRMT11", "start": 33, "end": 39}], "disease": [{"text": "breast cancer", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRMT11", "start": 33, "end": 39}, "tail": {"text": "breast cancer", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "VEGF messenger RNA levels are dramatically increased within a few hours of exposing different cell cultures to hypoxia and return to background when normal oxygen supply is resumed.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Individuals with asthma with the GSTM1 wild-type genotype had greater baseline and allergen-provoked airway neutrophilia and concentrations of myeloperoxidase than GSTM1-null patients.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 33, "end": 38}], "disease": [{"text": "neutrophilia", "start": 108, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Prostate tumor OVerexpressed-1 (PTOV1) down-regulates HES1 and HEY1 notch targets genes and promotes prostate cancer progression.", "output": {"entities": {"gene": [{"text": "HES1", "start": 54, "end": 58}], "disease": [{"text": "prostate cancer", "start": 101, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.", "output": {"entities": {"gene": [{"text": "NDP", "start": 33, "end": 36}], "disease": [{"text": "Norrie disease", "start": 58, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDP", "start": 33, "end": 36}, "tail": {"text": "Norrie disease", "start": 58, "end": 72}}]}}, "schema": []}
{"input": "Direct sequencing following polymerase chain reaction of exons of FZD4 was performed for 24 probands with FEVR (18 familial and six sporadic), and some of their families.", "output": {"entities": {"gene": [{"text": "FZD4", "start": 66, "end": 70}], "disease": [{"text": "sporadic", "start": 132, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The main goal of the study was to determine the difference in miR-21 expression among normal tissue, non-invasive, invasive with non-invasive component, and pure invasive breast cancer samples, to explain its potential role and significance in breast cancer invasiveness.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 62, "end": 68}], "disease": [{"text": "invasive breast cancer", "start": 162, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Rod ERG abnormalities (in addition to cone dysfunction) were detected in 59% of patients.", "output": {"entities": {"gene": [{"text": "ERG", "start": 4, "end": 7}], "disease": [{"text": "abnormalities", "start": 8, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that at least two modifications of OPA1 may lead to dominant optic atrophy, that is alteration in GTPase activity and loss of the last seven C-terminal amino acids that putatively interact with other proteins.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 50, "end": 54}], "disease": [{"text": "dominant optic atrophy", "start": 67, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 50, "end": 54}, "tail": {"text": "dominant optic atrophy", "start": 67, "end": 89}}]}}, "schema": []}
{"input": "The increase in pulmonary arterial pressure (PAP), PVR, RVM, and pulmonary vascular remodeling in response to chronic hypoxia was attenuated in animals overexpressing prepro-CGRP, whereas systemic pressure was not altered while in chronically hypoxic mice, angiotensin II and endothelin-1-induced increases in PAP were reduced, whereas decreases in PAP in response to CGRP and adrenomedullin were not changed and decreases in PAP in response to a cAMP phosphodiesterase inhibitor were enhanced by AdRSVCGRP.", "output": {"entities": {"gene": [{"text": "PAP", "start": 45, "end": 48}], "disease": [{"text": "hypoxic", "start": 243, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "We identified the Pim-2 serine/threonine kinase as mainly responsible for 4E-BP1 phosphorylation on the S (65) residue and subsequent translation control in AML.", "output": {"entities": {"gene": [{"text": "Pim-2", "start": 18, "end": 23}], "disease": [{"text": "AML", "start": 157, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pim-2", "start": 18, "end": 23}, "tail": {"text": "AML", "start": 157, "end": 160}}]}}, "schema": []}
{"input": "Two candidate genes (FTO and INSIG2) for fat accumulation in four canids: chromosome mapping, gene polymorphisms and association studies of body and skin weight of red foxes.", "output": {"entities": {"gene": [{"text": "INSIG2", "start": 29, "end": 35}], "disease": [{"text": "weight", "start": 154, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, HCA and HCC revealed changes in the expression of certain metabolic enzymes as compared with the non-neoplastic liver tissue or FNH.", "output": {"entities": {"gene": [{"text": "HCC", "start": 23, "end": 26}], "disease": [{"text": "non-neoplastic", "start": 112, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We observed that Ad-HDAC2 shRNA decreased inflammatory cell infiltration, reduced transnuclear expression of phospho-Smad3 and regressed fibrotic plaque of the tunica albuginea in PD rats in vivo.", "output": {"entities": {"gene": [{"text": "Smad3", "start": 117, "end": 122}], "disease": [{"text": "plaque", "start": 146, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "T (12; 14) (p13; q32) is a rare recurrent chromosomal translocation, which has only been identified in a small subgroup of mantle cell lymphoma (MCL) without typical t (11; 14) (q13; q32).", "output": {"entities": {"gene": [{"text": "p13", "start": 12, "end": 15}], "disease": [{"text": "mantle cell lymphoma", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Among the identified proteins, apolipoprotein A-IV may protect lipid peroxidation and atherosclerosis induced by TCDD exposure and the expression level of phosphoglycerate mutase increases due to hyperthyroidism induced by TCDD exposure.", "output": {"entities": {"gene": [{"text": "apolipoprotein A-IV", "start": 31, "end": 50}], "disease": [{"text": "atherosclerosis", "start": 86, "end": 101}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "apolipoprotein A-IV", "start": 31, "end": 50}, "tail": {"text": "atherosclerosis", "start": 86, "end": 101}}]}}, "schema": []}
{"input": "The following percentages of these genes were found to be aberrantly methylated in gastric cancer samples; TFPI2 (80. 9%), GPX3 (30. 1%), DMRT1 (46. 9%), GPX1 (16. 7%), IGFBP6 (22. 6%) and IRF7 (32. 1%).", "output": {"entities": {"gene": [{"text": "IRF7", "start": 189, "end": 193}], "disease": [{"text": "gastric cancer", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Targeted deletion of Sh2b1 in mice results in increased food intake, obesity, and insulin resistance, with an intermediate phenotype seen in heterozygous null mice on a high-fat diet.", "output": {"entities": {"gene": [{"text": "Sh2b1", "start": 21, "end": 26}], "disease": [{"text": "insulin resistance", "start": 82, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Additionally, pioglitazone significantly enhanced carcinoid cell death induced by tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL).", "output": {"entities": {"gene": [{"text": "TNF", "start": 105, "end": 108}], "disease": [{"text": "carcinoid", "start": 50, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Genetic testing of FUS thus seems indicated in sporadic early-onset ALS patients especially if showing predominant bulbar symptoms and an aggressive disease course.", "output": {"entities": {"gene": [{"text": "FUS", "start": 19, "end": 22}], "disease": [{"text": "sporadic", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Compared with myometrial SMC, cells derived from leiomyomas had significantly higher levels of both Wnt5b and sFRP1 transcripts.", "output": {"entities": {"gene": [{"text": "sFRP1", "start": 110, "end": 115}], "disease": [{"text": "leiomyomas", "start": 49, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sFRP1", "start": 110, "end": 115}, "tail": {"text": "leiomyomas", "start": 49, "end": 59}}]}}, "schema": []}
{"input": "Our findings clearly indicate that, Ox-LDL significantly induced lincRNA-DYNLRB2-2 expression, which promoted ABCA1-mediated cholesterol efflux and inhibited inflammation through GPR119 in THP-1 macrophage-derived foam cells.", "output": {"entities": {"gene": [{"text": "GPR119", "start": 179, "end": 185}], "disease": [{"text": "foam cells", "start": 214, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "One tumor has a t (6; 22) (p21; q11) translocation, so that cyclin D3 is bracketed by the IgL and IgH breakpoints.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 60, "end": 69}], "disease": [{"text": "translocation", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "NF-κB1 and miR-9 were involved in the role of BANCR in gastric cancer cell growth and apoptosis.", "output": {"entities": {"gene": [{"text": "BANCR", "start": 46, "end": 51}], "disease": [{"text": "gastric cancer", "start": 55, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The patient showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46, Y, inv (X) (p22. 13 approximately 22. 2p22. 32 approximately 22. 33) [49]/46, XY [271].", "output": {"entities": {"gene": [{"text": "p22", "start": 259, "end": 262}], "disease": [{"text": "microphthalmia", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The compound Wnt5a +/-; P4ha1 +/-embryos demonstrated Wnt5a-/-related defects, for example local hyperplasia in the UB tree.", "output": {"entities": {"gene": [{"text": "Wnt5a", "start": 13, "end": 18}], "disease": [{"text": "hyperplasia", "start": 97, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "However, it has not been clear whether persons with Trp64Arg mutation in the beta (3) AR gene tend to have obesity and difficulty in losing weight even with a restricted diet and exercise.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 86, "end": 93}], "disease": [{"text": "weight", "start": 140, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that GARP is expressed in complex with TGFb on the surface of activated Treg cells and plays an important role in TGFb (+) Treg-mediated T cell immune suppression during lentivirus infection.", "output": {"entities": {"gene": [{"text": "GARP", "start": 24, "end": 28}], "disease": [{"text": "immune suppression", "start": 163, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results suggest that BA has anti-angiogenic activity by disturbing the binding of HIF-1α and STAT3 to the VEGF promoter in hypoxic PC-3 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 126, "end": 130}], "disease": [{"text": "hypoxic", "start": 143, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Meta-analysis suggests that reduced ApoA1 level and increased ApoB level and ApoB/A1 ratio are risk factors for a first ischemic but not hemorrhagic stroke.", "output": {"entities": {"gene": [{"text": "ApoA1", "start": 36, "end": 41}], "disease": [{"text": "hemorrhagic stroke", "start": 137, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "We investigated the regulation of VPF/VEGF and its receptors by tissue hypoxia in normal human skin explants and in cultured skin cells in vitro.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 38, "end": 42}], "disease": [{"text": "hypoxia", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In studies to elucidate the mechanism by which ATRA alters Rb2/p130 stability in ovarian cancer cells, it was determined that PP2A, a serine/threonine phosphatase, binds and dephosphorylates Rb2/p130.", "output": {"entities": {"gene": [{"text": "Rb2/p130", "start": 59, "end": 67}], "disease": [{"text": "ovarian cancer", "start": 81, "end": 95}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Rb2/p130", "start": 59, "end": 67}, "tail": {"text": "ovarian cancer", "start": 81, "end": 95}}]}}, "schema": []}
{"input": "Our findings, the decreased CBFV in apoE epsilon4 allele carriers with MCI, suggest that a large sample and longitudinal study in CBFV and cognitive changes may have the implications on early diagnosis of Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "MCI", "start": 71, "end": 74}], "disease": [{"text": "cognitive changes", "start": 139, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Characterization of cells resistant to the potent histone deacetylase inhibitor spiruchostatin B (SP-B) and effect of overexpressed p21waf1/cip1 on the SP-B resistance or susceptibility of human leukemia cells.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 98, "end": 102}], "disease": [{"text": "leukemia", "start": 195, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Brain hemorrhage was unlikely to be simply a form of scurvy since Slc23a1 (-/-) mice showed no hemorrhage in any other tissues and their skin had normal skin 4-hydroxyproline levels despite low ascorbic-acid content.", "output": {"entities": {"gene": [{"text": "Slc23a1", "start": 66, "end": 73}], "disease": [{"text": "Brain hemorrhage", "start": 0, "end": 16}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Slc23a1", "start": 66, "end": 73}, "tail": {"text": "Brain hemorrhage", "start": 0, "end": 16}}]}}, "schema": []}
{"input": "Human (U251, U87, U343) and rat glioma cell lines (C6, 9L) were examined by the reverse transcriptase-polymerase chain reaction and subsequent nucleotide sequencing analysis to see whether they express wild type (wt)-p53 or mutated form (mut)-p53 messages.", "output": {"entities": {"gene": [{"text": "U87", "start": 13, "end": 16}], "disease": [{"text": "glioma", "start": 32, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann' s corneal dystrophy in a German family.", "output": {"entities": {"gene": [{"text": "keratin 12", "start": 58, "end": 68}], "disease": [{"text": "Meesmann' s corneal dystrophy", "start": 82, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 12", "start": 58, "end": 68}, "tail": {"text": "Meesmann' s corneal dystrophy", "start": 82, "end": 111}}]}}, "schema": []}
{"input": "The NPY polymorphism was not associated with higher cholesterol levels in normal-weight Dutch.", "output": {"entities": {"gene": [{"text": "NPY", "start": 4, "end": 7}], "disease": [{"text": "weight", "start": 81, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.", "output": {"entities": {"gene": [{"text": "WAC", "start": 46, "end": 49}], "disease": [{"text": "prostate cancer", "start": 147, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WAC", "start": 46, "end": 49}, "tail": {"text": "prostate cancer", "start": 147, "end": 162}}]}}, "schema": []}
{"input": "Hematopoietically expressed homeobox is a target gene of farnesoid X receptor in chenodeoxycholic acid-induced liver hypertrophy.", "output": {"entities": {"gene": [{"text": "Hematopoietically expressed homeobox", "start": 0, "end": 36}], "disease": [{"text": "hypertrophy", "start": 117, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We investigated the role of the Akt-mTOR pathway and its downstream molecular mechanisms in chronic hypoxia-and TGFβ-induced pulmonary vascular pruning and fibrosis in mice.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 112, "end": 116}], "disease": [{"text": "hypoxia", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medication use, cardiovascular disease and diabetes, and for all relevant genetic polymorphisms (ApoE2, ApoE4, CFH Y402H, ARMS2 A69S, LIPC rs10468017, LIPC rs493258, LPL rs12678919, ABCA1 rs1883025 and CETP rs3764261), higher HDL was significantly associated with an increased risk of early (OR = 2. 45, 95% CI: 1. 54-3. 90; P = 0. 0002) and any AMD (OR = 2. 29, 95% CI: 1. 46-3. 59; P = 0. 0003).", "output": {"entities": {"gene": [{"text": "LPL", "start": 258, "end": 261}], "disease": [{"text": "cardiovascular disease", "start": 108, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "This raises the question, whether, similar to other potential schizophrenia susceptibility genes such as Disc1, PDE4B and Akt, VSNL1 may affect cAMP signaling and neurite outgrowth in neurons.", "output": {"entities": {"gene": [{"text": "VSNL1", "start": 127, "end": 132}], "disease": [{"text": "schizophrenia", "start": 62, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VSNL1", "start": 127, "end": 132}, "tail": {"text": "schizophrenia", "start": 62, "end": 75}}]}}, "schema": []}
{"input": "Endemic pemphigus foliaceus (EPF) is an autoimmune bullous skin disease characterized by acantholysis and antibodies against a desmosomal protein, desmoglein 1.", "output": {"entities": {"gene": [{"text": "EPF", "start": 29, "end": 32}], "disease": [{"text": "acantholysis", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Genetic association of LMAN2L gene in schizophrenia and bipolar disorder and its interaction with ANK3 gene polymorphism.", "output": {"entities": {"gene": [{"text": "LMAN2L", "start": 23, "end": 29}], "disease": [{"text": "bipolar disorder", "start": 56, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LMAN2L", "start": 23, "end": 29}, "tail": {"text": "bipolar disorder", "start": 56, "end": 72}}]}}, "schema": []}
{"input": "Estradiol modulates tumor necrosis factor-induced endothelial inflammation: role of tumor necrosis factor receptor 2.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor receptor 2", "start": 84, "end": 116}], "disease": [{"text": "inflammation", "start": 62, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Haploinsufficient GATA4 may show variable expressivity with a wide spectrum of clinical findings, including CHD.", "output": {"entities": {"gene": [{"text": "GATA4", "start": 18, "end": 23}], "disease": [{"text": "variable expressivity", "start": 33, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The association of 18F-deoxyglucose (FDG) uptake of PET with polymorphisms in the glucose transporter gene (SLC2A1) and hypoxia-related genes (HIF1A, VEGFA, APEX1) in non-small cell lung cancer. SLC2A1 polymorphisms and FDG-PET in NSCLC patients.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 150, "end": 155}], "disease": [{"text": "hypoxia", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of miR-221 and miR-222 resulted in the reduction of genes involved in hypoxia response, metabolism, TGF-beta signalling, and cell motion.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 115, "end": 123}], "disease": [{"text": "hypoxia", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The mevalonate-HMG-CoA reductase (HMGCR) pathway may modulate the YAP activation under hypoxia.", "output": {"entities": {"gene": [{"text": "YAP", "start": 66, "end": 69}], "disease": [{"text": "hypoxia", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a novel mechanism for HBV-mediated pathogenesis of chronic liver diseases, including HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 107, "end": 110}], "disease": [{"text": "liver diseases", "start": 81, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the T allele, encoding aspartic acid, of the Glu298Asp polymorphism of the NOS3 may be associated with advanced stage endometriosis in the Korean population.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 103, "end": 107}], "disease": [{"text": "endometriosis", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Since endotoxemia and sepsis are different entities we have recently established a short-term sepsis model in rats induced by cecal ligation and incision (CLI).", "output": {"entities": {"gene": [{"text": "CLI", "start": 155, "end": 158}], "disease": [{"text": "endotoxemia", "start": 6, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Loss of AP-2alpha expression in metastatic melanoma occurs via a dual mechanism involving binding of CREB to the AP-2alpha promoter and CREB-induced overexpression of another oncogenic transcription factor, E2F-1.", "output": {"entities": {"gene": [{"text": "CREB", "start": 101, "end": 105}], "disease": [{"text": "metastatic melanoma", "start": 32, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "U87 human glioma cells were treated with artemether at various concentrations and shRNA interfering technology was employed to silence the expression of VCAM-1.", "output": {"entities": {"gene": [{"text": "U87", "start": 0, "end": 3}], "disease": [{"text": "glioma", "start": 10, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Our data contribute to the evidence that C5orf42 is one of the causative genes for OFDVI.", "output": {"entities": {"gene": [{"text": "C5orf42", "start": 41, "end": 48}], "disease": [{"text": "OFDVI", "start": 83, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C5orf42", "start": 41, "end": 48}, "tail": {"text": "OFDVI", "start": 83, "end": 88}}]}}, "schema": []}
{"input": "In this study, we show that BMI1 is recurrently targeted by chromosomal aberrations in B-cell leukemia/lymphoma.", "output": {"entities": {"gene": [{"text": "BMI1", "start": 28, "end": 32}], "disease": [{"text": "chromosomal aberrations", "start": 60, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Catechol-O-methyltransferase (COMT) and monoamine oxidase A (MAOA) are both involved in the degradation of various biogenic amines which have been hypothesized to have a relationship with personality traits.", "output": {"entities": {"gene": [{"text": "COMT", "start": 30, "end": 34}], "disease": [{"text": "personality traits", "start": 188, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "We describe here the identification of additional point mutations in the LMX1B gene in a set of Italian patients affected with Nail-Patella syndrome: two deletions of 1 and 2 bp causing a frameshift in two sporadic patients and nonsense mutations in two familial and one sporadic cases have been identified.", "output": {"entities": {"gene": [{"text": "LMX1B gene", "start": 73, "end": 83}], "disease": [{"text": "sporadic", "start": 206, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Our observations support the concept of dosage effects of the PAX6 mutations as well as presenting evidence for variable expressivity.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 62, "end": 66}], "disease": [{"text": "variable expressivity", "start": 112, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The evidence for persistant viral infection, glutamate-mediated excitotoxicity, oxidative stress, altered neurofilament and peripherin expression, disrupted axonal transport, neurotrophin deficiency, and mitochondrial dysfunction are critically reviewed.", "output": {"entities": {"gene": [{"text": "peripherin", "start": 124, "end": 134}], "disease": [{"text": "viral infection", "start": 28, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "A human proximal tubule cell line (HK-2) was subjected to hydrogen peroxide (H (2) O (2)) stress that resulted in phosphorylation of c-jun N-terminal kinases (JNKs) and the transcription factor NF-kappaB at Ser276, both of which have been associated with inflammation.", "output": {"entities": {"gene": [{"text": "c-jun", "start": 133, "end": 138}], "disease": [{"text": "inflammation", "start": 255, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these findings demonstrate the mitochondrial involvement in FASN inhibition-induced apoptosis in melanoma cells.", "output": {"entities": {"gene": [{"text": "FASN", "start": 76, "end": 80}], "disease": [{"text": "melanoma", "start": 113, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FASN", "start": 76, "end": 80}, "tail": {"text": "melanoma", "start": 113, "end": 121}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the relationships among vitamin D receptor (VDR) gene polymorphism, parathyroid hormone (PTH) levels, and bone density in renal transplant recipients.", "output": {"entities": {"gene": [{"text": "PTH", "start": 130, "end": 133}], "disease": [{"text": "bone density", "start": 147, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Advanced liver cirrhosis is associated with osteopenia and also with low serum levels of IGF-I.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 89, "end": 94}], "disease": [{"text": "osteopenia", "start": 44, "end": 54}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGF-I", "start": 89, "end": 94}, "tail": {"text": "osteopenia", "start": 44, "end": 54}}]}}, "schema": []}
{"input": "Loss of the chromosome 17 centromere (monosomy) was shown by FISH in some cells from all 14 endometriosis specimens, although in no case did every cell show monosomy 17.", "output": {"entities": {"gene": [{"text": "FISH", "start": 61, "end": 65}], "disease": [{"text": "endometriosis", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We found that none of the 230 LS patients developed cancer and that only 1 out of 116 patients with congenital IGHD, also suffering from xeroderma pigmentosum, had a malignancy.", "output": {"entities": {"gene": [{"text": "IGHD", "start": 111, "end": 115}], "disease": [{"text": "xeroderma pigmentosum", "start": 137, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "TWEAK was expressed to a greater degree in the suprabasal layer in the cholesteatoma than in EAC skin.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 0, "end": 5}], "disease": [{"text": "cholesteatoma", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.", "output": {"entities": {"gene": [{"text": "holocarboxylase synthetase", "start": 19, "end": 45}], "disease": [{"text": "holocarboxylase synthetase deficiency", "start": 76, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "holocarboxylase synthetase", "start": 19, "end": 45}, "tail": {"text": "holocarboxylase synthetase deficiency", "start": 76, "end": 113}}]}}, "schema": []}
{"input": "Some ARO forms are also associated with primary neurodegeneration, retinal atrophy, and lysosomal storage, which are caused by CLCN7 and OSTM1 gene mutations.", "output": {"entities": {"gene": [{"text": "ARO", "start": 5, "end": 8}], "disease": [{"text": "neurodegeneration", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Although preliminary we conclude from our results that the acute phase of major depressive disorder is associated with increased GLUT1 methylation and mild insulin resistance.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 129, "end": 134}], "disease": [{"text": "insulin resistance", "start": 156, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The IGF1R inhibitor successfully alleviated mechanical allodynia, heat hyperalgesia, and spontaneous pain behavior observed after plantar incision.", "output": {"entities": {"gene": [{"text": "IGF1R", "start": 4, "end": 9}], "disease": [{"text": "hyperalgesia", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The breakpoint of the t (14; 18) translocation occurs in the major breakpoint cluster region in the 3' untranslated region of bcl-2.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 126, "end": 131}], "disease": [{"text": "translocation", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of activin-A and-B in malignant mesothelioma-attenuated Smad3 signaling responses and ERK activation promote cell migration and invasive growth.", "output": {"entities": {"gene": [{"text": "Smad3", "start": 71, "end": 76}], "disease": [{"text": "malignant mesothelioma", "start": 37, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "A significant difference was found between patients with a low expression of HSP27 (negative patients) and those with a high HSP27 expression (positive patients) of plasma levels both of antioxidants (GSH, p < 0. 05), and of markers of enhanced production of free radicals and cytokines (alpha GST, TNF-alpha and IL-6, p < 0. 05; MDA, 4-HNE and S-NO, p < 0. 01) as well as for alcohol use and degree of liver impairment.", "output": {"entities": {"gene": [{"text": "HNE", "start": 337, "end": 340}], "disease": [{"text": "alcohol use", "start": 377, "end": 388}]}, "relations": {}}, "schema": []}
{"input": "Uroguanylin concentrations are increased in patients with chronic renal failure, nephrotic syndrome, or those on dialysis.", "output": {"entities": {"gene": [{"text": "Uroguanylin", "start": 0, "end": 11}], "disease": [{"text": "nephrotic syndrome", "start": 81, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Uroguanylin", "start": 0, "end": 11}, "tail": {"text": "nephrotic syndrome", "start": 81, "end": 99}}]}}, "schema": []}
{"input": "CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.", "output": {"entities": {"gene": [{"text": "SREBP-2", "start": 437, "end": 444}], "disease": [{"text": "CRF", "start": 0, "end": 3}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SREBP-2", "start": 437, "end": 444}, "tail": {"text": "CRF", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Although GATA1-TEL transgenic mice appeared healthy up to 18 months of age, the level of hemoglobin was higher in transgenic mice compared to non-transgenic littermates.", "output": {"entities": {"gene": [{"text": "TEL", "start": 15, "end": 18}], "disease": [{"text": "hemoglobin", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Possible association of the GSK3β gene with the anxiety symptoms of major depressive disorder and P300 waveform.", "output": {"entities": {"gene": [{"text": "P300", "start": 98, "end": 102}], "disease": [{"text": "major depressive disorder", "start": 68, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Conversely, normal CD34 + cell proliferation was decreased by adhesion to fibronectin with a concomitant drop in CDC25A expression.", "output": {"entities": {"gene": [{"text": "CDC25A", "start": 113, "end": 119}], "disease": [{"text": "adhesion", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Consisting of a fragment of ACTH (4-7) and C-terminal PGP tripeptide, the polypeptide Semax is successfully used for acute stroke therapy.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 28, "end": 32}], "disease": [{"text": "acute stroke", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "TCF4 mutational analysis was performed in 117 patients with PTHS-like features.", "output": {"entities": {"gene": [{"text": "TCF4", "start": 0, "end": 4}], "disease": [{"text": "PTHS", "start": 60, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCF4", "start": 0, "end": 4}, "tail": {"text": "PTHS", "start": 60, "end": 64}}]}}, "schema": []}
{"input": "Recently, we reported the high incidence of somatic mutations in the AML1/RUNX1 gene (which is a critical regulator of definitive hematopoiesis and the most frequent target for translocation of acute myeloid leukemia [AML]) in MDS, especially refractory anemia with excess blasts (RAEB), RAEB in transformation (RAEBt), and AML following MDS (defined here as MDS/AML).", "output": {"entities": {"gene": [{"text": "RUNX1 gene", "start": 74, "end": 84}], "disease": [{"text": "translocation", "start": 177, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The effect of Ad-TIMP3 on the abilities of adhesion and invasion were evaluated by adhesion and invasion assay, respectively.", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 17, "end": 22}], "disease": [{"text": "adhesion", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Coculture of ECs with RPE under conditions enabling direct EC-RPE contact enhances the proangiogenic potential of ECs under normoxia, to an extent similar to that induced by hypoxia, suggesting that ECs in direct contact with RPE cells might be more prone to pathologic angiogenesis involved in CNV formation.", "output": {"entities": {"gene": [{"text": "RPE", "start": 22, "end": 25}], "disease": [{"text": "hypoxia", "start": 174, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We describe the clinical and pathological features of a patient with TTR variant (gly53glu) with TTR amyloid infiltration of the leptomeningeal vessels in whom fatal cerebral haemorrhage occurred two months after OLT, soon after severe viral pneumonia.", "output": {"entities": {"gene": [{"text": "TTR", "start": 69, "end": 72}], "disease": [{"text": "cerebral haemorrhage", "start": 166, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "CD39 improves survival in microbial sepsis by attenuating systemic inflammation.", "output": {"entities": {"gene": [{"text": "CD39", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.", "output": {"entities": {"gene": [{"text": "PCDH15", "start": 30, "end": 36}], "disease": [{"text": "retinal disease", "start": 69, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "A neuropeptide ligand of the G protein-coupled receptor GPR103 regulates feeding, behavioral arousal, and blood pressure in mice.", "output": {"entities": {"gene": [{"text": "GPR103", "start": 56, "end": 62}], "disease": [{"text": "blood pressure", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Comparative studies using a transgenic mouse expressing human amyloid-beta-precursor protein (hAbetaPP) from the rPF4 promoter confirmed diminished hAbetaPP expression without affecting endogenous alpha-granule PF4, establishing generalizability of these observations.", "output": {"entities": {"gene": [{"text": "PF4", "start": 114, "end": 117}], "disease": [{"text": "amyloid", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In this study, we collected 16 additional HHH cases and expanded the spectrum of SLC25A15/ORC1 mutations.", "output": {"entities": {"gene": [{"text": "SLC25A15", "start": 81, "end": 89}], "disease": [{"text": "HHH", "start": 42, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC25A15", "start": 81, "end": 89}, "tail": {"text": "HHH", "start": 42, "end": 45}}]}}, "schema": []}
{"input": "Here, we show that inhibition of cGMP-selective PDE5 (phosphodiesterase 5) suppresses endothelin-1-, diacylglycerol analog-, and mechanical stretch-induced hypertrophy through inhibition of Ca (2 +) influx in rat neonatal cardiomyocytes.", "output": {"entities": {"gene": [{"text": "endothelin-1", "start": 86, "end": 98}], "disease": [{"text": "hypertrophy", "start": 156, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "endothelin-1", "start": 86, "end": 98}, "tail": {"text": "hypertrophy", "start": 156, "end": 167}}]}}, "schema": []}
{"input": "In multivariate logistic regression analysis, CDX2 loss was associated with female gender [odds ratio (OR), 3. 32; P < 0. 0001], CIMP-high (OR, 4. 42; P = 0. 0003), high tumor grade (OR, 2. 69; P = 0. 0085), stage IV disease (OR, 2. 03; P = 0. 019), and inversely with LINE-1 hypomethylation (for a 30% decline; OR, 0. 33; P = 0. 0031), p53 expression (OR, 0. 55; P = 0. 011), and beta-catenin activation (OR, 0. 60; P = 0. 037), but not with body mass index, tumor location, microsatellite instability, BRAF, KRAS, PIK3CA, p21, or cyclooxygenase-2.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 381, "end": 393}], "disease": [{"text": "body mass index", "start": 443, "end": 458}]}, "relations": {}}, "schema": []}
{"input": "The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA).", "output": {"entities": {"gene": [{"text": "adRP", "start": 123, "end": 127}], "disease": [{"text": "macular degeneration", "start": 224, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "AIM: To evaluate the relationship between the Caveolin-1 (CAV1) T29107A (rs7804372) polymorphism and the risk of prostate cancer among Japanese populations, and the associations between CAV1 polymorphisms and clinicopathological characteristics, including Gleason grade and prostate-specific antigen (PSA) grade.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "prostate cancer", "start": 113, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "This study examined the effect of SNL on the expression of cyclooxygenase (COX)-1, COX-2, and prostaglandin E2 receptors in the rat lumbar spinal cord, and the temporal and pharmacologic relation of these changes to the exaggerated A-and C-fiber-mediated reflex responses and allodynia, 24 h after injury.", "output": {"entities": {"gene": [{"text": "COX", "start": 75, "end": 78}], "disease": [{"text": "allodynia", "start": 276, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Transactivation response element (TAR) DNA-binding protein 43 (TDP-43) is the principal component of ubiquitinated inclusions characteristic of most forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia-frontotemporal lobar degeneration with TDP-43-positive inclusions (FTLD-TDP), as well as an increasing spectrum of other neurodegenerative diseases.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 39, "end": 58}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 158, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Here we show that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia.", "output": {"entities": {"gene": [{"text": "DCHS1", "start": 80, "end": 85}], "disease": [{"text": "periventricular neuronal heterotopia", "start": 148, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DCHS1", "start": 80, "end": 85}, "tail": {"text": "periventricular neuronal heterotopia", "start": 148, "end": 184}}]}}, "schema": []}
{"input": "A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty.", "output": {"entities": {"gene": [{"text": "PROP1 gene", "start": 67, "end": 77}], "disease": [{"text": "pituitary hormone deficiency", "start": 26, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors in repetitive DNA sequences.", "output": {"entities": {"gene": [{"text": "MMR", "start": 0, "end": 3}], "disease": [{"text": "microsatellite instability", "start": 70, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Since CRPC is associated with androgen receptor (AR) hypersensitivity, we investigated the relationship between SRF and AR.", "output": {"entities": {"gene": [{"text": "SRF", "start": 112, "end": 115}], "disease": [{"text": "hypersensitivity", "start": 53, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.", "output": {"entities": {"gene": [{"text": "tyrosine aminotransferase", "start": 23, "end": 48}], "disease": [{"text": "tyrosinemia type II", "start": 57, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tyrosine aminotransferase", "start": 23, "end": 48}, "tail": {"text": "tyrosinemia type II", "start": 57, "end": 76}}]}}, "schema": []}
{"input": "A combined approach of homozygosity mapping and exome sequencing revealed a homozygous nonsense mutation (c. 565C & gt; T [p. Glu189 *]) in RAB28 in a German family with three siblings with arCRD.", "output": {"entities": {"gene": [{"text": "RAB28", "start": 140, "end": 145}], "disease": [{"text": "CRD", "start": 192, "end": 195}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAB28", "start": 140, "end": 145}, "tail": {"text": "CRD", "start": 192, "end": 195}}]}}, "schema": []}
{"input": "We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies.", "output": {"entities": {"gene": [{"text": "MFN2", "start": 70, "end": 74}], "disease": [{"text": "HMSN VI", "start": 36, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MFN2", "start": 70, "end": 74}, "tail": {"text": "HMSN VI", "start": 36, "end": 43}}]}}, "schema": []}
{"input": "Importantly, NSE-OVA mice having received OVA-specific TCR transgenic CD8 T cells developed an accelerated, more severe, and extended neurological disease.", "output": {"entities": {"gene": [{"text": "CD8", "start": 70, "end": 73}], "disease": [{"text": "neurological disease", "start": 134, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Probands of seven families with isolated TGA and a family history of concordant or discordant congenital heart disease were screened for mutations in the ZIC3, ACVR2B, LEFTYA, CFC1, NODAL, FOXH1, GDF1, CRELD1, GATA4 and NKX2. 5 genes.", "output": {"entities": {"gene": [{"text": "LEFTYA", "start": 168, "end": 174}], "disease": [{"text": "congenital heart disease", "start": 94, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Expression of PAX8 or PAX2 in both nephrogenic adenoma and clear cell adenocarcinoma of the lower urinary tract may indicate a possible related tissue origin for these 2 lesions; both may be derived from proliferating renal tubular cells in the urinary tract.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 14, "end": 18}], "disease": [{"text": "clear cell adenocarcinoma", "start": 59, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We show for the first time that Hmox1 is constitutively expressed at barrier tissues at the interface between the internal and external environments, and that it is highly induced in muscle cells during systemic inflammation.", "output": {"entities": {"gene": [{"text": "Hmox1", "start": 32, "end": 37}], "disease": [{"text": "inflammation", "start": 212, "end": 224}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hmox1", "start": 32, "end": 37}, "tail": {"text": "inflammation", "start": 212, "end": 224}}]}}, "schema": []}
{"input": "The findings suggest a role of NRN1 as a modifier of cognitive functioning in SZ, with implications for future research into the impact of the environment on the development and maintenance of \" fluid \" intelligence.", "output": {"entities": {"gene": [{"text": "NRN1", "start": 31, "end": 35}], "disease": [{"text": "SZ", "start": 78, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRN1", "start": 31, "end": 35}, "tail": {"text": "SZ", "start": 78, "end": 80}}]}}, "schema": []}
{"input": "High-dose paclitaxel with granulocyte colony-stimulating factor in patients with advanced breast cancer refractory to anthracycline therapy: a European Cancer Center trial.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 26, "end": 63}], "disease": [{"text": "breast cancer", "start": 90, "end": 103}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 26, "end": 63}, "tail": {"text": "breast cancer", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "DISC1, a promising candidate susceptibility gene, encodes a protein which interacts with many other proteins, including CIT, NDEL1, NDE1, FEZ1 and PAFAH1B1, some of which also have been associated with psychosis.", "output": {"entities": {"gene": [{"text": "NDE1", "start": 132, "end": 136}], "disease": [{"text": "psychosis", "start": 202, "end": 211}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDE1", "start": 132, "end": 136}, "tail": {"text": "psychosis", "start": 202, "end": 211}}]}}, "schema": []}
{"input": "A haplotype involving the most 5' IRF6 markers was associated with sporadic tooth agenesis (p = 0. 006).", "output": {"entities": {"gene": [{"text": "IRF6", "start": 34, "end": 38}], "disease": [{"text": "tooth agenesis", "start": 76, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The clusterin (CLU) gene has been proposed as a candidate because of the presence of clusterin protein in pseudoexfoliation deposits, its varied levels in aqueous humor of cases compared to controls, and the role of the protein as a molecular chaperone.", "output": {"entities": {"gene": [{"text": "CLU", "start": 15, "end": 18}], "disease": [{"text": "pseudoexfoliation", "start": 106, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These results collectively suggest distinct roles for iPLA2beta and iPLA2gamma in cellular homeostasis and signaling, a functional link between peroxisomal AA release and eicosanoid generation, and a potential contribution of iPLA2gamma to tumorigenesis.", "output": {"entities": {"gene": [{"text": "iPLA2beta", "start": 54, "end": 63}], "disease": [{"text": "tumorigenesis", "start": 240, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "In four families (Families 1, 2, 5, 6) with the adult type of hypophosphatasia, inherited as autosomal dominant, the NAP score and TALP (< 40 iu/l), were low, < 20 and < 40 iu/l respectively, in all affected subjects, though the PEA and PLP were not consistently abnormal.", "output": {"entities": {"gene": [{"text": "NAP", "start": 117, "end": 120}], "disease": [{"text": "hypophosphatasia", "start": 62, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Our data provide insights into the mechanistic regulation and linkage of the ROR1-HER3 and Hippo-YAP pathway in a cancer-specific context, and also imply valuable therapeutic targets for bone metastasis and possible therapy-resistant & #160; tumours.", "output": {"entities": {"gene": [{"text": "ROR1", "start": 77, "end": 81}], "disease": [{"text": "metastasis", "start": 192, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ROR1", "start": 77, "end": 81}, "tail": {"text": "metastasis", "start": 192, "end": 202}}]}}, "schema": []}
{"input": "The raised levels correlated to the degree of splenomegaly, suggesting that HDAC might be recruited as ET or PV progresses into myelofibrosis or PMF progresses into a more advanced stage.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 76, "end": 80}], "disease": [{"text": "splenomegaly", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "These results support the hypothesis that GTP cyclohydrolase 1 inhibition decreases relaxation and increases blood pressure in rats.", "output": {"entities": {"gene": [{"text": "GTP cyclohydrolase 1", "start": 42, "end": 62}], "disease": [{"text": "blood pressure", "start": 109, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Development of TRAIL resistance by radiation-induced hypermethylation of DR4 CpG island in recurrent laryngeal squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "DR4", "start": 73, "end": 76}], "disease": [{"text": "recurrent laryngeal squamous cell carcinoma", "start": 91, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "ERK1/2 mRNA expression was down-regulated in the depression model group compared with the normal control group (P & lt; 0. 01).", "output": {"entities": {"gene": [{"text": "ERK1", "start": 0, "end": 4}], "disease": [{"text": "depression", "start": 49, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK1", "start": 0, "end": 4}, "tail": {"text": "depression", "start": 49, "end": 59}}]}}, "schema": []}
{"input": "Moreover, EGLN3 gene expression was upregulated in response to hypoxia only in M2 (M-CSF) macrophages, and the hypoxia-mediated upregulation of EGLN3 expression was significantly impaired by activin A neutralization.", "output": {"entities": {"gene": [{"text": "M-CSF", "start": 83, "end": 88}], "disease": [{"text": "hypoxia", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions.", "output": {"entities": {"gene": [{"text": "FISH", "start": 230, "end": 234}], "disease": [{"text": "neurofibromatosis 1", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Whether smoking was associated with a BRAF somatic mutation depended on gender.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 38, "end": 42}], "disease": [{"text": "smoking", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Abnormal increments of HSP70 in atherosclerotic plaques might lead to plaque instability and rupture caused by chronic inflammation, which up-regulates the expression of pro-inflammatory cytokines (IL-6 and TNF-alpha) in human monocytes.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 198, "end": 202}], "disease": [{"text": "plaque", "start": 48, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The phenotype of the STP mice represents a transient state from ADMs to PanINs, closely mimicking the interface area seen in human chronic pancreatitis associated with PDAC.", "output": {"entities": {"gene": [{"text": "STP", "start": 21, "end": 24}], "disease": [{"text": "chronic pancreatitis", "start": 131, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "A second intriguing finding was that DPPII specific activity increased during necrosis, whereas induction of apoptosis or autophagy did not affect any of the dipeptidyl peptidase activities.", "output": {"entities": {"gene": [{"text": "DPPII", "start": 37, "end": 42}], "disease": [{"text": "necrosis", "start": 78, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPPII", "start": 37, "end": 42}, "tail": {"text": "necrosis", "start": 78, "end": 86}}]}}, "schema": []}
{"input": "Expression of vitamin D receptor mRNA in the hippocampal formation of rats submitted to a model of temporal lobe epilepsy induced by pilocarpine.", "output": {"entities": {"gene": [{"text": "vitamin D receptor", "start": 14, "end": 32}], "disease": [{"text": "temporal lobe epilepsy", "start": 99, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vitamin D receptor", "start": 14, "end": 32}, "tail": {"text": "temporal lobe epilepsy", "start": 99, "end": 121}}]}}, "schema": []}
{"input": "The phenotypic expression of WD was compared between patients with different types of mutations in ATP7B, detected by direct sequencing of exons 1-21 of the gene.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 99, "end": 104}], "disease": [{"text": "WD", "start": 29, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 99, "end": 104}, "tail": {"text": "WD", "start": 29, "end": 31}}]}}, "schema": []}
{"input": "The findings also suggest that some candidate genes that are assumed to have a relatively limited impact on SZ and ASD pathogenesis based on a small number of positive genetic findings, such as SMARCA2 and ARNT2, may in fact have a much more substantial role in these disorders-as targets of common environmental stressors.", "output": {"entities": {"gene": [{"text": "SMARCA2", "start": 194, "end": 201}], "disease": [{"text": "SZ", "start": 108, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMARCA2", "start": 194, "end": 201}, "tail": {"text": "SZ", "start": 108, "end": 110}}]}}, "schema": []}
{"input": "It delayed mortality by lowering PAP, RVH and vascular remodeling.", "output": {"entities": {"gene": [{"text": "PAP", "start": 33, "end": 36}], "disease": [{"text": "vascular remodeling", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Several recent trials have reported that the sensitivity of MRI for imaging breast cancer greatly exceeds that of conventional mammography, but no study has yet determined that annual MRI reduces breast cancer-specific mortality.", "output": {"entities": {"gene": [{"text": "MRI", "start": 60, "end": 63}], "disease": [{"text": "breast cancer", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "TRAIL and its receptor, DR5, were expressed in wild-type retinas at all time points evaluated (postnatal days 12, 17, 21, 24) during oxygen-induced retinopathy and in age-matched room air control animals.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 0, "end": 5}], "disease": [{"text": "retinopathy", "start": 148, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The ability of the VEGF isoforms to stimulate growth, angiogenesis, oxygenation, and the formation of necrotic GBM-like tumors was then monitored.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 19, "end": 23}], "disease": [{"text": "necrotic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Although the effect of variation at rs37369 needs further study, these findings suggest that AGXT2 is an important regulator of methylarginines and represents a novel mechanism through which the kidney regulates blood pressure.", "output": {"entities": {"gene": [{"text": "AGXT2", "start": 93, "end": 98}], "disease": [{"text": "blood pressure", "start": 212, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Consequently, VEGF blockade restores and increases MET activity in GBM cells in a hypoxia-independent manner, while inducing a program reminiscent of epithelial-to-mesenchymal transition highlighted by a T-cadherin to N-cadherin switch and enhanced mesenchymal features.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 14, "end": 18}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Of the astrocytoma associated hypermethylated genes, the methylation pattern of the CDH13, cyclin a1, DBCCR1, EPO, MYOD1, and p16INK4a genes changed in no more than 5. 66% (3/53) of astrocytoma tissues compared to non-astrocytoma controls, while the RASSF1A, p73, AR, MGMT, CDH1, OCT6, MT1A, WT1, and IRF7 genes were more frequently hypermethylated in 69. 8%, 47. 2%, 41. 5%, 35. 8%, 32%, 30. 2%, 30. 2%, 30. 2% and 26. 4% of astrocytoma tissues, respectively.", "output": {"entities": {"gene": [{"text": "EPO", "start": 110, "end": 113}], "disease": [{"text": "astrocytoma", "start": 7, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Transient neutropenia, monocytopenia, and lymphocytopenia were observed followed by a 1. 3-to 6. 0-fold (mean, 3. 46-fold) dose-dependent neutrophil leukocytosis (P less than. 00001) on the days of IL-1 beta administration.", "output": {"entities": {"gene": [{"text": "IL-1 beta", "start": 198, "end": 207}], "disease": [{"text": "leukocytosis", "start": 149, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1 beta", "start": 198, "end": 207}, "tail": {"text": "leukocytosis", "start": 149, "end": 161}}]}}, "schema": []}
{"input": "The CC genotype, which is associated with higher producibility of IL-10, was more frequent in patients with severe HD than in those with mild HD (p = 0. 0201).", "output": {"entities": {"gene": [{"text": "IL-10", "start": 66, "end": 71}], "disease": [{"text": "mild", "start": 137, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Here we report that in the human multiple myeloma cell line KAS 6/1, the SOD-2 gene, encoding manganese superoxide dismutase, is epigenetically silenced as a result of promoter hypermethylation.", "output": {"entities": {"gene": [{"text": "SOD-2", "start": 73, "end": 78}], "disease": [{"text": "multiple myeloma", "start": 33, "end": 49}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD-2", "start": 73, "end": 78}, "tail": {"text": "multiple myeloma", "start": 33, "end": 49}}]}}, "schema": []}
{"input": "In this study, we investigated the association of STR polymorphisms in genes encoding mast cell chymase (CMA1), uteroglobin (UGB), tumor necrosis factor-α (TNF-α) and interleukin-4 (IL-4) with asthma and atopic phenotypes in the large population-based Swiss Cohort Study SAPALDIA.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 156, "end": 161}], "disease": [{"text": "atopic", "start": 204, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that TACI mutations can result in CVID and IgAD.", "output": {"entities": {"gene": [{"text": "TACI", "start": 27, "end": 31}], "disease": [{"text": "CVID", "start": 56, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TACI", "start": 27, "end": 31}, "tail": {"text": "CVID", "start": 56, "end": 60}}]}}, "schema": []}
{"input": "We identify a total of 97 SMGs, including 70 not previously implicated in prostate cancer, such as the ubiquitin ligase CUL3 and the transcription factor SPEN.", "output": {"entities": {"gene": [{"text": "CUL3", "start": 120, "end": 124}], "disease": [{"text": "prostate cancer", "start": 74, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CUL3", "start": 120, "end": 124}, "tail": {"text": "prostate cancer", "start": 74, "end": 89}}]}}, "schema": []}
{"input": "Duplication of the short arm of chromosome 5 [dup (5) (p13. 1p15. 3)] has been associated with craniofacial malformations, cardiac defects, renal and intestinal malformations, limb abnormalities, and mental retardation.", "output": {"entities": {"gene": [{"text": "p13", "start": 55, "end": 58}], "disease": [{"text": "cardiac defects", "start": 123, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The inflammation induced cyclooxygenase 2 (COX-2) enzyme required for the production of Prostaglandin E2 (PGE2), can promote colorectal cancer by decreasing expression of the tumour suppressor gene Programmed Cell Death 4 (PDCD4).", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 223, "end": 228}], "disease": [{"text": "inflammation", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "An epithelial-mesenchymal transition (EMT) is believed to be important for primary tumor progression and dissemination, whereas a mesenchymal-epithelial transition (MET) appears crucial for metastatic colonization.", "output": {"entities": {"gene": [{"text": "EMT", "start": 38, "end": 41}], "disease": [{"text": "tumor progression", "start": 83, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "All these effects were also seen in the Ben-Men-1 cell line in which studies on the role of HIF-1 in the regulation of VEGF-A showed that not only hypoxia but also the growth factors induced HIF-1α and DEX suppressed HIF-1α induction.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 119, "end": 125}], "disease": [{"text": "hypoxia", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Mediated by the hypoxia-inducible transcription factor HIF-1alpha/beta, a reduction in O2 tension (pO2) leads to increased VEGF gene expression in nonmalignant tissues.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 123, "end": 127}], "disease": [{"text": "hypoxia", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Twenty-two BRCA1-associated ovarian cancer cases were matched with sporadic cases (no family history of ovarian or breast cancer) for FIGO stage, grade, histologic subtype, and patient age and hormone receptor expression was measured immunohistochemically.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 193, "end": 209}], "disease": [{"text": "sporadic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Promoter hypermethylation of let-7a-3 is relevant to its down-expression in diabetic nephropathy by targeting UHRF1.", "output": {"entities": {"gene": [{"text": "UHRF1", "start": 110, "end": 115}], "disease": [{"text": "diabetic nephropathy", "start": 76, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Elevated 14-3-3epsilon binds and sequesters p-Bad and prevents Bad translocation to neutralize the anti-apoptotic function of Bcl-2.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 126, "end": 131}], "disease": [{"text": "translocation", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The lack of TRPM8 induced axon-reflex indicates that also de-novo expression of TRPM8 on mechano-insensitive C-nociceptors does not underlie cold allodynia in these patients.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 12, "end": 17}], "disease": [{"text": "cold", "start": 141, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We investigated the expression of TSPAN7 in the haematological malignancy multiple myleoma (MM) and assessed the consequences of TSPAN7 expression in the adhesion, migration and growth of MM plasma cells (PC) in vitro and in bone marrow (BM) homing and tumour growth in vivo.", "output": {"entities": {"gene": [{"text": "TSPAN7", "start": 34, "end": 40}], "disease": [{"text": "adhesion", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "MPO (-/-) demonstrated decreased leukocyte infiltration, significant reduction in LV dilation, and marked preservation of LV function.", "output": {"entities": {"gene": [{"text": "MPO", "start": 0, "end": 3}], "disease": [{"text": "dilation", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Increased mature and immature CCR3 messenger RNA + eosinophils in bone marrow from patients with atopic asthma compared with atopic and nonatopic control subjects.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 30, "end": 34}], "disease": [{"text": "atopic", "start": 97, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Decreased nuclear SOX17 in the hPST model was strongly correlated with in vivo teratogenicity.", "output": {"entities": {"gene": [{"text": "SOX17", "start": 18, "end": 23}], "disease": [{"text": "teratogenicity", "start": 79, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOX17", "start": 18, "end": 23}, "tail": {"text": "teratogenicity", "start": 79, "end": 93}}]}}, "schema": []}
{"input": "These findings show that dysregulation of the TAK1 complex produces a close phenocopy of FMD caused by FLNA mutations.", "output": {"entities": {"gene": [{"text": "TAK1", "start": 46, "end": 50}], "disease": [{"text": "FMD", "start": 89, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TAK1", "start": 46, "end": 50}, "tail": {"text": "FMD", "start": 89, "end": 92}}]}}, "schema": []}
{"input": "This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs7799039), and two non-synonymous single nucleotide polymorphisms of the leptin receptor gene (LEPR), K109R (rs1137100) and Q223R (rs1137101), with body weight, body mass index (BMI) and obesity (BMI > or = 30) in Pacific Islanders.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 194, "end": 198}], "disease": [{"text": "body weight", "start": 247, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Using comprehensive genomic approaches, we identified loss-of-function somatic alterations of the Polycomb repressive complex 2 (PRC2) components (EED or SUZ12) in 92% of sporadic, 70% of NF1-associated and 90% of radiotherapy-associated MPNSTs.", "output": {"entities": {"gene": [{"text": "EED", "start": 147, "end": 150}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We studied plasma antithrombin III (AT-III), alpha 1-PI, alpha 2-antiplasmin (alpha 2-A), alpha 2-macroglobulin (alpha 2-M) activity, and some blood coagulation and fibrinolysis tests in children with frequently relapsing prednisone-responsive NS.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 18, "end": 34}], "disease": [{"text": "NS", "start": 244, "end": 246}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "antithrombin III", "start": 18, "end": 34}, "tail": {"text": "NS", "start": 244, "end": 246}}]}}, "schema": []}
{"input": "Rabbits inoculated intravenously with HVP-producing cells showed increased anti-EBV-VCA-IgG titers, and most (85%) subsequently died of fatal LPD and VAHS, with bleeding and hepatosplenomegaly, during 22-105 days.", "output": {"entities": {"gene": [{"text": "LPD", "start": 142, "end": 145}], "disease": [{"text": "hepatosplenomegaly", "start": 174, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Lung SCC cells stably transfected with pEGFP-DDR2 WT, pEGFP-DDR2-S131C or empty vector were injection into nude mice to study the effect of DDR2 and its' mutation on tumorigenesis in vivo.", "output": {"entities": {"gene": [{"text": "DDR2", "start": 45, "end": 49}], "disease": [{"text": "tumorigenesis", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Liver weight (P < 0. 01) and hepatic cholesterol content (P < 0. 01) were significantly increased in sPLA2 transgenic mice compared with controls as a result of increased scavenger receptor class B type I (SR-BI)-mediated hepatic selective uptake of HDL cholesterol (P < 0. 01), whereas hepatic SR-BI expression remained unchanged.", "output": {"entities": {"gene": [{"text": "SR-BI", "start": 206, "end": 211}], "disease": [{"text": "weight", "start": 6, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to characterize the onset, severity, and duration of diarrhea after administration of neratinib 240 mg once daily (QD) and 120 mg twice daily (BID) for ≤ 14 days in healthy subjects.", "output": {"entities": {"gene": [{"text": "BID", "start": 175, "end": 178}], "disease": [{"text": "diarrhea", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "However, in complete intestinal ischemia-reperfusion, prevention of PMN adhesion by monoclonal antibodies to CD11b and CD18 reduces remote but not local intestinal injury.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 109, "end": 114}], "disease": [{"text": "intestinal ischemia", "start": 21, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1. 5-Mb tandem DNA duplication in chromosome 17p11. 2-p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1. 5-Mb deletion at this locus.", "output": {"entities": {"gene": [{"text": "p12", "start": 119, "end": 122}], "disease": [{"text": "hereditary neuropathy with liability to pressure palsies", "start": 130, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia.", "output": {"entities": {"gene": [{"text": "COL4A1", "start": 31, "end": 37}], "disease": [{"text": "schizencephaly", "start": 68, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL4A1", "start": 31, "end": 37}, "tail": {"text": "schizencephaly", "start": 68, "end": 82}}]}}, "schema": []}
{"input": "Our data suggest that the alterations in nuclear and mitochondrial activation of STAT3 and caveolae localization of caveolin-3 are related to the development of the catecholamine-induced cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 81, "end": 86}], "disease": [{"text": "cardiac hypertrophy", "start": 187, "end": 206}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT3", "start": 81, "end": 86}, "tail": {"text": "cardiac hypertrophy", "start": 187, "end": 206}}]}}, "schema": []}
{"input": "These results provide molecular evidence showing that the activation of Notch signaling is mechanistically linked with chemoresistance phenotype (EMT phenotype) of PC cells, suggesting that the inactivation of Notch signaling by novel strategies could be a potential targeted therapeutic approach for overcoming chemoresistance toward the prevention of tumor progression and/or treatment of metastatic PC.", "output": {"entities": {"gene": [{"text": "EMT", "start": 146, "end": 149}], "disease": [{"text": "tumor progression", "start": 353, "end": 370}]}, "relations": {}}, "schema": []}
{"input": "Activation of genes coding for pro-and antioxidant enzymes, cytokines, adhesion molecules, and tissue inhibitor of metalloproteinase 1 (TIMP-1) indicates that biomechanical stimuli may contribute to vascular oxidant stress, inflammation, and tissue remodeling.", "output": {"entities": {"gene": [{"text": "TIMP-1", "start": 136, "end": 142}], "disease": [{"text": "inflammation", "start": 224, "end": 236}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TIMP-1", "start": 136, "end": 142}, "tail": {"text": "inflammation", "start": 224, "end": 236}}]}}, "schema": []}
{"input": "We were interested in identifying mutations in the TLR2 gene that might prove to be associated with altered susceptibility to septic shock.", "output": {"entities": {"gene": [{"text": "TLR2 gene", "start": 51, "end": 60}], "disease": [{"text": "septic shock", "start": 126, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Neuron-specific mapping of the genome-wide distribution of H3K4me3 revealed 136 differentially enriched loci associated with genes implicated in neuronal development and neurodegeneration, including GPR3, TMEM106B, PDIA6 and the Notch signaling genes hairy and enhancer of split 4 (HES4) and JAGGED2, supporting the view that the neuronal epigenome is affected in HD.", "output": {"entities": {"gene": [{"text": "GPR3", "start": 199, "end": 203}], "disease": [{"text": "neurodegeneration", "start": 170, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "We found (i) a statistically significant increase in the frequency of the functional GSTM1 allele in high-grade pediatric astrocytomas (p < 0. 002), (ii) a significant increase in the frequency of the rare GSTP1 variant Val114/Val114 in pediatric astrocytomas (p < 0. 002), and (iii) a significant increase in the frequency of the rare GSTP1 Val114/Val114 genotype among pediatric tumors showing microsatellite instability (MSI) due to defects in mismatch repair (MMR) proteins (p = 0. 003).", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 85, "end": 90}], "disease": [{"text": "microsatellite instability", "start": 396, "end": 422}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigate the relation between miRNA expression and NGAL expression, and the role of NGAL in tumorigenesis.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 63, "end": 67}], "disease": [{"text": "tumorigenesis", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "AGXT mutation analysis and assessment of biochemical characteristics and clinical outcome were performed on patients from a Dutch PH1 cohort.", "output": {"entities": {"gene": [{"text": "AGXT", "start": 0, "end": 4}], "disease": [{"text": "PH1", "start": 130, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGXT", "start": 0, "end": 4}, "tail": {"text": "PH1", "start": 130, "end": 133}}]}}, "schema": []}
{"input": "The human serum protein transthyretin (TTR) is highly fibrillogenic in vitro and is the fibril precursor in both autosomal dominant (familial amyloidotic polyneuropathy [FAP] and familial amyloidotic cardiomyopathy [FAC]) and sporadic (senile systemic amyloidosis [SSA]) forms of human cardiac amyloidosis.", "output": {"entities": {"gene": [{"text": "SSA", "start": 265, "end": 268}], "disease": [{"text": "polyneuropathy", "start": 154, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The mRNA and protein expression levels of AQP9 were up-regulated in the retina of an animal model of glaucoma.", "output": {"entities": {"gene": [{"text": "AQP9", "start": 42, "end": 46}], "disease": [{"text": "glaucoma", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The identification of mucosa-associated lymphoid tissue lymphoma translocation 1 (MALT1) as a gene that is perturbed in the B-cell neoplasm MALT lymphoma, already more than a decade ago, was the starting point for an intense area of research.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 82, "end": 87}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Methylation levels at adjacent CpGs varied with maternal age, smoking, education, and having siblings < 5 years old. Our data support an association between cord blood PRF1 enhancer methylation patterns and subsequent risk of LRTIs in infants.", "output": {"entities": {"gene": [{"text": "PRF1", "start": 168, "end": 172}], "disease": [{"text": "smoking", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The role of Dachshund homolog 2 gene (DACH2) in tumorigenesis remains unexplored.", "output": {"entities": {"gene": [{"text": "DACH2", "start": 38, "end": 43}], "disease": [{"text": "tumorigenesis", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 91, "end": 96}], "disease": [{"text": "Wilson disease", "start": 56, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 91, "end": 96}, "tail": {"text": "Wilson disease", "start": 56, "end": 70}}]}}, "schema": []}
{"input": "This case-control study explored the relationship between early recurrent spontaneous abortion (RSA) and the expression of two genes: VEGFA, the gene encoding vascular endothelial growth factor (VEGF); and fms-related tyrosine kinase 1 (FLT1), the gene encoding the soluble VEGF receptor-1 (sFlt-1).", "output": {"entities": {"gene": [{"text": "FLT1", "start": 237, "end": 241}], "disease": [{"text": "recurrent spontaneous abortion", "start": 64, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the MMP-9 gene may play a role in the pathogenesis of alcohol dependence.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 29, "end": 34}], "disease": [{"text": "alcohol dependence", "start": 79, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 29, "end": 34}, "tail": {"text": "alcohol dependence", "start": 79, "end": 97}}]}}, "schema": []}
{"input": "Loss of Testisin has been implicated in testicular tumorigenesis, but its role in testis biology and tumorigenesis is not known.", "output": {"entities": {"gene": [{"text": "Testisin", "start": 8, "end": 16}], "disease": [{"text": "tumorigenesis", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates that the disorder of lipid metabolism in the adipose and liver tissues is induced in regucalcin TG rats with aging, and that the gene expression of leptin or adiponectin is suppressed in TG rats.", "output": {"entities": {"gene": [{"text": "regucalcin", "start": 109, "end": 119}], "disease": [{"text": "disorder of lipid metabolism", "start": 33, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Her hepatic failure and symptoms of Stevens-Johnson syndrome were successfully treated with intravenous prednisolone and infusion of fresh-frozen plasma or albumin, as the occasion demanded.", "output": {"entities": {"gene": [{"text": "albumin", "start": 156, "end": 163}], "disease": [{"text": "Stevens-Johnson syndrome", "start": 36, "end": 60}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "albumin", "start": 156, "end": 163}, "tail": {"text": "Stevens-Johnson syndrome", "start": 36, "end": 60}}]}}, "schema": []}
{"input": "The adjusted hazard ratio for the development of stages II to IV breast cancer associated with MRI screening was 0. 30 (95% CI, 0. 12 to 0. 72; P =. 008).", "output": {"entities": {"gene": [{"text": "MRI", "start": 95, "end": 98}], "disease": [{"text": "breast cancer", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Our previous studies showed that a binding partner of ELL, U19/Eaf2, can modulate HIF-1alpha activity and hypoxia response, suggesting that ELL may also influence HIF-1alpha pathway and hypoxia response.", "output": {"entities": {"gene": [{"text": "Eaf2", "start": 63, "end": 67}], "disease": [{"text": "hypoxia", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, overexpression of MRP2 correlates with a lower percentage of tumor necrosis in patients treated with cisplatin-based neoadjuvant chemotherapy for HCC, whereas either tumor size or dose of cisplatin does not.", "output": {"entities": {"gene": [{"text": "HCC", "start": 161, "end": 164}], "disease": [{"text": "tumor necrosis", "start": 76, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Differential Wnt pathway gene expression and E-cadherin truncation in sporadic colorectal cancers with and without microsatellite instability.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 45, "end": 55}], "disease": [{"text": "microsatellite instability", "start": 115, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the downregulation of the CST6 gene is associated with promoter histone modifications and that this association plays an important role in prostate cancer progression during the invasive and metastatic stages of the disease.", "output": {"entities": {"gene": [{"text": "CST6", "start": 53, "end": 57}], "disease": [{"text": "prostate cancer", "start": 166, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CST6", "start": 53, "end": 57}, "tail": {"text": "prostate cancer", "start": 166, "end": 181}}]}}, "schema": []}
{"input": "Our findings account for clinical heterogeneity of TTR-derived amyloidosis, and suggest the importance of substitution itself for deposits of amyloid in CTS.", "output": {"entities": {"gene": [{"text": "TTR", "start": 51, "end": 54}], "disease": [{"text": "CTS", "start": 153, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTR", "start": 51, "end": 54}, "tail": {"text": "CTS", "start": 153, "end": 156}}]}}, "schema": []}
{"input": "Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and autosomal-recessive bestrophinopathy.", "output": {"entities": {"gene": [{"text": "BEST1", "start": 17, "end": 22}], "disease": [{"text": "autosomal-recessive bestrophinopathy", "start": 133, "end": 169}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BEST1", "start": 17, "end": 22}, "tail": {"text": "autosomal-recessive bestrophinopathy", "start": 133, "end": 169}}]}}, "schema": []}
{"input": "Although present in the mammalian kidney, CNP production in human kidney and its modulation in human renal disease remain less defined.", "output": {"entities": {"gene": [{"text": "CNP", "start": 42, "end": 45}], "disease": [{"text": "renal disease", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Activated RhoA down-regulated p53 protein, which increased VEGF expression in hypoxic MCF-7 cells; whereas p53 messenger RNA levels were not altered.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 59, "end": 63}], "disease": [{"text": "hypoxic", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We identified a KIT gene mutation in a proband with classic autosomal dominant piebaldism.", "output": {"entities": {"gene": [{"text": "KIT", "start": 16, "end": 19}], "disease": [{"text": "piebaldism", "start": 79, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIT", "start": 16, "end": 19}, "tail": {"text": "piebaldism", "start": 79, "end": 89}}]}}, "schema": []}
{"input": "Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 23, "end": 27}], "disease": [{"text": "congenital bilateral absence of vas deferens", "start": 36, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 23, "end": 27}, "tail": {"text": "congenital bilateral absence of vas deferens", "start": 36, "end": 80}}]}}, "schema": []}
{"input": "DNA samples from the German centres of the European Community Respiratory Health Survey were analysed for genetic variants in the IL1RA gene and the development of asthma, atopy and bronchial hyperreactivity.", "output": {"entities": {"gene": [{"text": "IL1RA", "start": 130, "end": 135}], "disease": [{"text": "bronchial hyperreactivity", "start": 182, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "We confirmed specific deregulation of Fmn2, Arntl2, Bfsp2, Gfra2, Gpm6a, and Gpm6b in B leukemia, of Nln, Fbln1, and Bmp7 in T leukemias, and of Etv5 in both leukemias.", "output": {"entities": {"gene": [{"text": "Gpm6a", "start": 66, "end": 71}], "disease": [{"text": "leukemias", "start": 127, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "These data suggest hypoxia as a central stimulus of angiogenesis in human HCC through upregulation of VEGF gene expression by at least two distinct molecular mechanisms: activation of VEGF gene transcription and an increase in VEGF mRNA stability.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 102, "end": 106}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "In the FOXP1 mutation carrier, we also observed a rare inherited CNTNAP2 missense variant, and we provide functional support for a multi-hit model for disease risk.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 65, "end": 72}], "disease": [{"text": "hit", "start": 137, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Hermansky-Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction.", "output": {"entities": {"gene": [{"text": "MIM", "start": 33, "end": 36}], "disease": [{"text": "oculocutaneous albinism", "start": 121, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Therefore, this study provides further evidence suggesting that piccolo, RIMS2, RIMS3, but not the entire components of the active zone are involved in the neurobiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "RIMS3", "start": 80, "end": 85}], "disease": [{"text": "schizophrenia", "start": 172, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RIMS3", "start": 80, "end": 85}, "tail": {"text": "schizophrenia", "start": 172, "end": 185}}]}}, "schema": []}
{"input": "Resident (GFP (-)/Iba1 (+)/CD68 (-)) microglia and bone marrow-derived macrophages (BMDMs; GFP (+)/Iba1 (+)/CD68 (+)) colocalized in the mild group 7d after SCI/R.", "output": {"entities": {"gene": [{"text": "CD68", "start": 27, "end": 31}], "disease": [{"text": "mild", "start": 137, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Two SNPs near the BAT2 and MC4R genes and 3 SNPs within the FTO, SEC16B, and SH2B1 genes were significantly associated with body mass index (weight (kg)/height (m) (2)), body weight, and the prevalence of obesity.", "output": {"entities": {"gene": [{"text": "FTO", "start": 60, "end": 63}], "disease": [{"text": "height", "start": 153, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "DNA methylation changes at a number of these genes have been linked to various forms of human disease, including cancers, such as asthma and acute myeloid leukemia (ALOX12), gastric cancer (EBF3), breast cancer (NAV1), colon cancer and acute lymphoid leukemia (KCNK15), Wilms tumor (protocadherin gene cluster; PCDHAs) and colorectal cancer (TCERG1L), suggesting a potential etiologic role for MEs in tumorigenesis and underscoring the possible developmental origins of these malignancies.", "output": {"entities": {"gene": [{"text": "EBF3", "start": 190, "end": 194}], "disease": [{"text": "acute lymphoid leukemia", "start": 236, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "afibrinogenaemia, autosomal recessive disorders, factor VIII, factor XI, factor XIII.", "output": {"entities": {"gene": [{"text": "factor XI", "start": 62, "end": 71}], "disease": [{"text": "afibrinogenaemia", "start": 0, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "The t (11; 18) (q21; q21) translocation has been identified in a subset of MALT lymphoma cases, and AP12 and MLT1/MALT1 genes have been implicated in this translocation.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 114, "end": 119}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Both cell lines carry the characteristic t (14; 18) chromosomal translocation and display constitutively overexpressed Bcl-2.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 119, "end": 124}], "disease": [{"text": "chromosomal translocation", "start": 52, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Six other families with Perrault syndrome have wild-type sequences of HSD17B4.", "output": {"entities": {"gene": [{"text": "HSD17B4", "start": 70, "end": 77}], "disease": [{"text": "Perrault syndrome", "start": 24, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSD17B4", "start": 70, "end": 77}, "tail": {"text": "Perrault syndrome", "start": 24, "end": 41}}]}}, "schema": []}
{"input": "The Chinese herbal medicine FTZ attenuates insulin resistance via IRS1 and PI3K in vitro and in rats with metabolic syndrome.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 75, "end": 79}], "disease": [{"text": "insulin resistance", "start": 43, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We studied 51 subjects without (Pro/Pro) and 26 subjects with this polymorphisms (X/Ala) (both groups non-diabetic) by a modified hyperglycaemic clamp which permitted determination of both insulin secretion (in response to glucose, GLP-1 and arginine) and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 232, "end": 237}], "disease": [{"text": "insulin sensitivity", "start": 256, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "We therefore assessed the applicability of using GAPDH as a reference gene for expression studies in sepsis compared to other housekeeping genes (succinate dehydrogenase complex subunit A (SDHA), hypoxanthine phosphoribosyltransferase (HPRT)-1).", "output": {"entities": {"gene": [{"text": "SDHA", "start": 189, "end": 193}], "disease": [{"text": "sepsis", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We have previously demonstrated that SLC25A1 (CIC) promotes tumorigenesis, while its inhibition blunts tumor growth.", "output": {"entities": {"gene": [{"text": "SLC25A1", "start": 37, "end": 44}], "disease": [{"text": "tumorigenesis", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Affected muscle showed mild dystrophic changes, vacuoles, and abnormal aggregation of proteins, including TDP-43 and DNAJB6 itself.", "output": {"entities": {"gene": [{"text": "DNAJB6", "start": 117, "end": 123}], "disease": [{"text": "mild", "start": 23, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "In this study, we measured the mRNA expression levels of dysbindin-1, NRG-1 and two other genes (NPY1R and GNAO1) in immortalized lymphocytes from 45 patients with schizophrenia and 45 controls using real-time quantitative reverse transcriptase-PCR.", "output": {"entities": {"gene": [{"text": "NPY1R", "start": 97, "end": 102}], "disease": [{"text": "schizophrenia", "start": 164, "end": 177}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY1R", "start": 97, "end": 102}, "tail": {"text": "schizophrenia", "start": 164, "end": 177}}]}}, "schema": []}
{"input": "Evidence suggests a modifier allele in AIPL1 in a patient with LCA with prominent atrophic macular lesions and homozygous defects in CRB1.", "output": {"entities": {"gene": [{"text": "CRB1", "start": 133, "end": 137}], "disease": [{"text": "atrophic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2).", "output": {"entities": {"gene": [{"text": "CLVS2", "start": 175, "end": 180}], "disease": [{"text": "schizophrenia", "start": 104, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CLVS2", "start": 175, "end": 180}, "tail": {"text": "schizophrenia", "start": 104, "end": 117}}]}}, "schema": []}
{"input": "The changes after ischemia seemed to occur at the same time both in the dendritic spines and in their shafts, and the increase of the immunoreactivity for drebrin in CA3 might suggest the change of cytoskeletal protein synthesis in survived neurons.", "output": {"entities": {"gene": [{"text": "CA3", "start": 166, "end": 169}], "disease": [{"text": "ischemia", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "These results show that the mutant EGFR interacts with other growth factors and hypoxia to regulate VEGF via a PI3 kinase pathway, and suggests a specific role for anti-mutant EGFR antibodies and PI3 kinase inhibitors as therapy of this specific tumour target.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 100, "end": 104}], "disease": [{"text": "hypoxia", "start": 80, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Thus we hypothesized that SIRT1 attenuates nasal polyposis by inhibiting HIF-1-induced EMT.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 73, "end": 78}], "disease": [{"text": "nasal polyposis", "start": 43, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "In hamster with opisthorchiasis-associated CCA, the expression of ANXA1 was observed in the cytoplasm of inflammatory cells, bile duct epithelia and tumor cells.", "output": {"entities": {"gene": [{"text": "ANXA1", "start": 66, "end": 71}], "disease": [{"text": "opisthorchiasis", "start": 16, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "DNA samples isolated from 29 patients with sporadic endometrial cancer were analyzed for allelic changes in 12 highly polymorphic microsatellite loci on nine chromosomes, containing CAG repeat in the exon 1 of the androgen receptor gene.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 214, "end": 236}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Enrichment of rare protein-altering CCNF variants was evident in a large sporadic ALS replication cohort.", "output": {"entities": {"gene": [{"text": "CCNF", "start": 36, "end": 40}], "disease": [{"text": "ALS", "start": 82, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCNF", "start": 36, "end": 40}, "tail": {"text": "ALS", "start": 82, "end": 85}}]}}, "schema": []}
{"input": "Affected individuals exhibited a lethal microcephaly syndrome linked to inadequate uptake of LPC lipids.", "output": {"entities": {"gene": [{"text": "LPC", "start": 93, "end": 96}], "disease": [{"text": "microcephaly", "start": 40, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Mean of intraocular pressure, corneal diameter and number of surgery values and cup-to-disc ratios, and percentages of patients with bilateral PCG, eyes with severe opacities and severe phenotype, and those that needed > 1 trabeculectomy were significantly higher in the CYP1B1 mutation carriers (n = 51) than in the no CYP1B1 mutation group (n = 43).", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 271, "end": 277}], "disease": [{"text": "cup", "start": 80, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In vivo, bG47Delta-PF4 was more efficacious than its nonexpressing parent bG47Delta-empty at inhibiting tumor growth and angiogenesis in both human U87 glioma and mouse 37-3-18-4 malignant peripheral nerve sheath tumor models.", "output": {"entities": {"gene": [{"text": "U87", "start": 148, "end": 151}], "disease": [{"text": "glioma", "start": 152, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "IRS1 mRNA and protein resulted higher, relative to paired mucosa, in adenomas of familial adenomatous polyposis patients and in CRCs that overexpressed c-MYC, ß-catenin, InsRß, and IGF1R.", "output": {"entities": {"gene": [{"text": "IGF1R", "start": 181, "end": 186}], "disease": [{"text": "familial adenomatous polyposis", "start": 81, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Expression of NAT1, TBC1D9, IL6ST, RABEP1, PLK1 and LRBA was elevated in carcinomas of males compared to those of females, in which ER status appeared to be related to expression.", "output": {"entities": {"gene": [{"text": "RABEP1", "start": 35, "end": 41}], "disease": [{"text": "carcinomas", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "MSP results were as follows: loss of XAF1 expression was found in three of four esophageal cell lines with promoter region hypermethylation (completely methylated in KYSE30, KYSE70 and BIC1 cell lines and partially in TE3 cells); all nine cases of normal esophageal mucosa were unmethylated; and 54/72 (75. 00%) samples from patients with esophageal cancer were methylated, and 25/72 (34. 70%) matched adjacent tissues were methylated (75. 00% vs 34. 70%, χ (2) = 23. 5840, P = 0. 000).", "output": {"entities": {"gene": [{"text": "MSP", "start": 0, "end": 3}], "disease": [{"text": "esophageal cancer", "start": 339, "end": 356}]}, "relations": {}}, "schema": []}
{"input": "We used FISH to test for association between chromosome 17 segments and MYCN in eight neuroblastoma cell lines and two neuroblastoma primary tumors known to include hsrs.", "output": {"entities": {"gene": [{"text": "FISH", "start": 8, "end": 12}], "disease": [{"text": "neuroblastoma", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "PU. 1 is highly expressed in leukemia cells, whereas RUNX1 is frequently inactivated by mutation or translocation.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 53, "end": 58}], "disease": [{"text": "translocation", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "After observing that expression of two NR4A orphan nuclear receptors, NR4A3 and NR4A1, was altered by insulin in cDNA microarray analyses of human skeletal muscle, we studied whether these receptors could modulate insulin sensitivity.", "output": {"entities": {"gene": [{"text": "NR4A1", "start": 80, "end": 85}], "disease": [{"text": "insulin sensitivity", "start": 214, "end": 233}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR4A1", "start": 80, "end": 85}, "tail": {"text": "insulin sensitivity", "start": 214, "end": 233}}]}}, "schema": []}
{"input": "This case shows that disruption of ESR1 causes profound estrogen resistance in women.", "output": {"entities": {"gene": [{"text": "ESR1", "start": 35, "end": 39}], "disease": [{"text": "estrogen resistance", "start": 56, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ESR1", "start": 35, "end": 39}, "tail": {"text": "estrogen resistance", "start": 56, "end": 75}}]}}, "schema": []}
{"input": "Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.", "output": {"entities": {"gene": [{"text": "HIF2A", "start": 15, "end": 20}], "disease": [{"text": "erythrocytosis", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Our results would indicate that the MOG gene may play a significant role in schizophrenia in the Han Chinese.", "output": {"entities": {"gene": [{"text": "MOG", "start": 36, "end": 39}], "disease": [{"text": "schizophrenia", "start": 76, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MOG", "start": 36, "end": 39}, "tail": {"text": "schizophrenia", "start": 76, "end": 89}}]}}, "schema": []}
{"input": "Pharmacologic targeting or genetic deletion of mitochondrial cyclophilin D protects from NSAID-induced small intestinal ulceration in mice.", "output": {"entities": {"gene": [{"text": "mitochondrial cyclophilin D", "start": 47, "end": 74}], "disease": [{"text": "ulceration", "start": 120, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mitochondrial cyclophilin D", "start": 47, "end": 74}, "tail": {"text": "ulceration", "start": 120, "end": 130}}]}}, "schema": []}
{"input": "As tumour regression in our model resembles the targeted inhibition of EGFR in cancer therapy, our observations may provide molecular insights into the targeted inhibition and highlight the importance of immune response in tumour regression.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 71, "end": 75}], "disease": [{"text": "regression", "start": 10, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Single 5-minute vorinostat (25 μm) topical application on the cornea following PRK significantly reduced corneal haze (P <. 008) and fibrotic marker proteins (α-smooth muscle actin and f-actin; P <. 001) without showing redness, swelling, or inflammation in rabbit eyes in vivo screened 4 weeks after PRK.", "output": {"entities": {"gene": [{"text": "PRK", "start": 79, "end": 82}], "disease": [{"text": "corneal haze", "start": 105, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We report here that the 518-nt long 5'-untranslated region (5'-UTR) of the GATA-4 mRNA, which is predicted to form stable secondary structures (-65 kcal/mol) such as to be inhibitory to cap-dependent initiation, confers efficient translation to monocistronic reporter mRNAs in cell-free extracts.", "output": {"entities": {"gene": [{"text": "UTR", "start": 63, "end": 66}], "disease": [{"text": "secondary", "start": 122, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Tnfa null (-/-) mice on a B6 background and B6. 129 Il-10 (-/-) mice were intercrossed with A/J mice and subjected to urethane carcinogenesis; lung tumor multiplicity was determined 20 weeks later.", "output": {"entities": {"gene": [{"text": "Il-10", "start": 52, "end": 57}], "disease": [{"text": "lung tumor", "start": 143, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Il-10", "start": 52, "end": 57}, "tail": {"text": "lung tumor", "start": 143, "end": 153}}]}}, "schema": []}
{"input": "MUTYH-null mice are susceptible to spontaneous and oxidative stress induced intestinal tumorigenesis.", "output": {"entities": {"gene": [{"text": "MUTYH", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We examined more than 300 granulomas and observed abundant expression of gamma interferon (IFN-gamma)-inducible chemokine mRNAs (CXCL9/monokine induced by IFN-gamma, CXCL10/IFN-gamma-inducible protein, and CXCL11/IFN-gamma-inducible T-cell alpha-chemoattractant) within solid and caseous granulomas, and there was only minimal expression in nongranulomatous regions of tissue.", "output": {"entities": {"gene": [{"text": "IFN", "start": 91, "end": 94}], "disease": [{"text": "granulomas", "start": 26, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The Hypertension Genetic Epidemiology Network (HyperGEN) Study of left ventricular hypertrophy characterized left ventricular mass, relative wall thickness (RWT), and aortic root diameter (ARD) with echocardiograms collected using a standardized protocol at four HyperGEN field centers.", "output": {"entities": {"gene": [{"text": "ARD", "start": 189, "end": 192}], "disease": [{"text": "left ventricular hypertrophy", "start": 66, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "GBM secreted ATX can also have paracrine effects: ATX activity results in reduced ODC adhesion.", "output": {"entities": {"gene": [{"text": "ATX", "start": 13, "end": 16}], "disease": [{"text": "adhesion", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "As inflammatory cytokines are involved in DSP, we addressed a role for inflammation in NRTI-SN by determining the alleles of immune-related genes carried by patients with and without NRTI-SN.", "output": {"entities": {"gene": [{"text": "DSP", "start": 42, "end": 45}], "disease": [{"text": "inflammation", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The number of genes with expression affected more than twofold increased, from 213 in iron deficiency and 73 in HRI deficiency, to 3135 in combined iron and HRI deficiencies.", "output": {"entities": {"gene": [{"text": "HRI", "start": 112, "end": 115}], "disease": [{"text": "iron deficiency", "start": 86, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We also report that C10 is effective at inhibiting human pancreatic cancer and malignant melanoma tumor growth in vivo in nude or severe combined immunodeficient mice and associate this with inhibition of signal transducers and activators of transcription 3 activation.", "output": {"entities": {"gene": [{"text": "C10", "start": 20, "end": 23}], "disease": [{"text": "pancreatic cancer", "start": 57, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "A diagnosis of primary infection with parvovirus B-19 was made in view of the association of reticulocytopenia, together with anti-B19 IgM antibodies and positive serum results for viral DNA.", "output": {"entities": {"gene": [{"text": "B19", "start": 131, "end": 134}], "disease": [{"text": "reticulocytopenia", "start": 93, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Dicer1, a key enzyme in miRNA biogenesis, was decreased by acute hypoxia but was later increased by HIF-1, rather than by the above-mentioned NF-κB subunits.", "output": {"entities": {"gene": [{"text": "Dicer1", "start": 0, "end": 6}], "disease": [{"text": "hypoxia", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the potential of AST in controlling angiogenesis was further investigated with elaboration of the underlying molecular mechanism in human colon cancer cell and tumor xenograft.", "output": {"entities": {"gene": [{"text": "AST", "start": 39, "end": 42}], "disease": [{"text": "colon cancer", "start": 160, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We explored the relationship between methylation of hMLH1 or hMSH2 promoter regions and its protein expression in both RER-positive and RER-negative gastric carcinomas.", "output": {"entities": {"gene": [{"text": "RER", "start": 119, "end": 122}], "disease": [{"text": "carcinomas", "start": 157, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Serum levels of SOD2 appeared statistically increased in OA patients when compared with healthy controls (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "SOD2", "start": 16, "end": 20}], "disease": [{"text": "OA", "start": 57, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD2", "start": 16, "end": 20}, "tail": {"text": "OA", "start": 57, "end": 59}}]}}, "schema": []}
{"input": "We also identified linkage disequilibrium (LD) between a WNT2 3' UTR SNP and our sample of autism-affected sibling pair (ASP) families and trios.", "output": {"entities": {"gene": [{"text": "ASP", "start": 121, "end": 124}], "disease": [{"text": "autism", "start": 91, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Strong expression of VEGF was evident in symptomatic patients (p < 0. 057), in high-degree stenosis (p = 0. 005), and in patients with ischemic infarct in brain scan (p = 0. 021).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 21, "end": 25}], "disease": [{"text": "infarct", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "These results do not provide a clear connection between protection of insulin sensitivity and HFD-induced adaptive changes in mitochondrial function or transcriptional responses but do not dismiss the possibility that elevated mitochondrial FAO in the HCR may play a protective role.", "output": {"entities": {"gene": [{"text": "HCR", "start": 252, "end": 255}], "disease": [{"text": "insulin sensitivity", "start": 70, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "179 sporadic nonsyndromic hearing loss children were subjected to microarray-based mutation detection for nine hot spot mutations in four of the most common deafness-related genes, including GJB2, SLC26A4, GJB3, and 12s rRNA.", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 197, "end": 204}], "disease": [{"text": "sporadic", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "We investigated the respective contribution (in terms of cancer yield and stage at diagnosis) of clinical breast examination (CBE), mammography, ultrasound, and quality-assured breast magnetic resonance imaging (MRI), used alone or in different combination, for screening women at elevated risk for breast cancer.", "output": {"entities": {"gene": [{"text": "MRI", "start": 212, "end": 215}], "disease": [{"text": "breast cancer", "start": 299, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "Using exome sequencing and linkage analysis in a three-generation family with a unique dominant myoclonus-dystonia-like syndrome with cardiac arrhythmias, we identified a mutation in the CACNA1B gene, coding for neuronal voltage-gated calcium channels CaV2. 2.", "output": {"entities": {"gene": [{"text": "CaV2. 2", "start": 252, "end": 259}], "disease": [{"text": "cardiac arrhythmias", "start": 134, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The phenotypic triad of anomalies most closely resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), a rare multiple congenital anomaly syndrome comprised of hydrometrocolpos (HMC), PAP, and congenital heart malformation that is inherited in an autosomal recessive pattern.", "output": {"entities": {"gene": [{"text": "PAP", "start": 184, "end": 187}], "disease": [{"text": "hydrometrocolpos", "start": 160, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.", "output": {"entities": {"gene": [{"text": "FISH", "start": 126, "end": 130}], "disease": [{"text": "chondrodysplasia punctata", "start": 45, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In this study, we identified a mutation in the PPO gene in a patient with VP and two unaffected family members.", "output": {"entities": {"gene": [{"text": "PPO", "start": 47, "end": 50}], "disease": [{"text": "VP", "start": 74, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PPO", "start": 47, "end": 50}, "tail": {"text": "VP", "start": 74, "end": 76}}]}}, "schema": []}
{"input": "Furthermore, in an orthotopic nude mouse model of human gastric cancer, we found that the survival benefit was greater after Ad-RPL23/p53 treatment than after Ad-p53.", "output": {"entities": {"gene": [{"text": "RPL23", "start": 128, "end": 133}], "disease": [{"text": "gastric cancer", "start": 56, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Finally, a combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for SNPs in CACNA1C and in the region of NEK4-ITIH1-ITIH3-ITIH4.", "output": {"entities": {"gene": [{"text": "ITIH1", "start": 154, "end": 159}], "disease": [{"text": "bipolar disorder", "start": 55, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITIH1", "start": 154, "end": 159}, "tail": {"text": "bipolar disorder", "start": 55, "end": 71}}]}}, "schema": []}
{"input": "Expression of MMP-21 was detected by immunohistochemistry in a subset of macrophages of granulomatous skin lesions and in fibroblasts in dermatofibromas.", "output": {"entities": {"gene": [{"text": "MMP-21", "start": 14, "end": 20}], "disease": [{"text": "dermatofibromas", "start": 137, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-21", "start": 14, "end": 20}, "tail": {"text": "dermatofibromas", "start": 137, "end": 152}}]}}, "schema": []}
{"input": "YC-1 inhibits HIF-1alpha expression in hypoxic pancreatic cancer cells, which is accompanied by the translocation of HIF-1alpha from nucleus to cytoplasm, decreased mRNA expression of VEGF and GPI, reduced cell proliferative vitality, and increased apoptosis.", "output": {"entities": {"gene": [{"text": "GPI", "start": 193, "end": 196}], "disease": [{"text": "translocation", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that deletion or pharmacologic inhibition of RAGE prevents development of CS-induced emphysema.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 60, "end": 64}], "disease": [{"text": "emphysema", "start": 100, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAGE", "start": 60, "end": 64}, "tail": {"text": "emphysema", "start": 100, "end": 109}}]}}, "schema": []}
{"input": "The genotypes of PAI-1 gene and beta fibrinogen gene were profiled by polymerase chain reaction-sequence length polymorphism (PCR-SLP) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) respectively.", "output": {"entities": {"gene": [{"text": "SLP", "start": 130, "end": 133}], "disease": [{"text": "fibrinogen", "start": 37, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We identified a canonical hypoxia-responsive element in the PTEN promoter, which regulates the transcription of this tumor suppressor protein in a TSC2-dependent manner.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 147, "end": 151}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study is to examine whether polymorphic variants of the HTR1B gene are associated with alcohol dependence subtypes or drinking-related behaviors in Chinese Han population.", "output": {"entities": {"gene": [{"text": "HTR1B gene", "start": 79, "end": 89}], "disease": [{"text": "drinking", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The mean values of plasma total nitrite and AM levels in the autistic group were significantly higher than control values, respectively (p & lt; 0. 001, p = 0. 028).", "output": {"entities": {"gene": [{"text": "AM", "start": 44, "end": 46}], "disease": [{"text": "autistic", "start": 61, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AM", "start": 44, "end": 46}, "tail": {"text": "autistic", "start": 61, "end": 69}}]}}, "schema": []}
{"input": "CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.", "output": {"entities": {"gene": [{"text": "SREBP-1", "start": 427, "end": 434}], "disease": [{"text": "CRF", "start": 0, "end": 3}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SREBP-1", "start": 427, "end": 434}, "tail": {"text": "CRF", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Mouse models of IGF-I and IGF-II deficiencies have phenotypes reminiscent of human SGA, including slow growth, insulin resistance, and mental dysfunction.", "output": {"entities": {"gene": [{"text": "IGF-II", "start": 26, "end": 32}], "disease": [{"text": "insulin resistance", "start": 111, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Transforming growth factor beta1 (TGF beta1) induces renal hypertrophy and fibrosis, and cytokines like tumor necrosis factor-alpha (TNFalpha), chemoattractant protein-1 (MCP-1), and regulated upon activation and normal T cell expressed and secreted (RANTES) mediate macrophage infiltration into kidney.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 171, "end": 176}], "disease": [{"text": "renal hypertrophy", "start": 53, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "MMR status was assessed by testing of tumors for the presence or absence of hMLH1, hMSH2, and hMSH6 protein expression and for microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 0, "end": 3}], "disease": [{"text": "microsatellite instability", "start": 127, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We investigated the genetic evolution of the NS5A region in the NS5A PKR-binding domain (NS5A-PKRbd) of patients with HCV 1b-related cirrhosis who subsequently developed or not hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "PKR", "start": 69, "end": 72}], "disease": [{"text": "cirrhosis", "start": 133, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, we observed a striking upregulation of four genes located immediately centromeric to the break point of the t (10; 11) (p12; q14) on 10p12 (COMMD3 (COMM domain containing 3), BMI1 (B lymphoma Mo-MLV insertion region 1 homolog), DNAJC1 (DnaJ (Hsp40) homolog subfamily C member 1) and SPAG6 (sperm associated antigen 6)).", "output": {"entities": {"gene": [{"text": "COMM domain containing 3", "start": 163, "end": 187}], "disease": [{"text": "lymphoma", "start": 198, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, since HSL overexpression inhibits cardiac steatosis and fibrosis by apparently hydrolyzing toxic lipid metabolites, cardiac HSL could be a therapeutic target for regulating diabetic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "HSL", "start": 21, "end": 24}], "disease": [{"text": "diabetic cardiomyopathy", "start": 188, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry for T-cell CD4/CD8, MUC1, MUC4, MUC17, and ECA and SNA lectins staining was performed on sections from the ulcer margins.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 41, "end": 45}], "disease": [{"text": "ulcer", "start": 128, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "However, it remains largely unclear whether DJ-1 is involved in the development of peritoneal metastasis by gastric carcinoma.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 44, "end": 48}], "disease": [{"text": "gastric carcinoma", "start": 108, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Moreover, using rottlerin to inhibit PKC delta or transfection experiments to overexpress it, we show that retinoic acid acts through this enzyme to induce MAP2 expression and to increase p67 (phox) membrane translocation leading to NADPH oxidase activation.", "output": {"entities": {"gene": [{"text": "p67", "start": 188, "end": 191}], "disease": [{"text": "translocation", "start": 208, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "The chromosomal translocation results in rearrangement of the RUNX1 gene at 21q22.", "output": {"entities": {"gene": [{"text": "RUNX1 gene", "start": 62, "end": 72}], "disease": [{"text": "chromosomal translocation", "start": 4, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "The relationships between VLDL concentrations and composition and changes in hepatic lipase and lipoprotein lipase activities were determined in rats, during the consumption of two low protein diets (2% casein or 5% gluten) (protein malnutrition) for 28 d, followed by the refeeding of a balanced diet for 14 d (15% casein) (refeeding).", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 96, "end": 114}], "disease": [{"text": "protein malnutrition", "start": 225, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that CD4 + CD25 + Tr cells and possibly other regulatory T-cell populations do exist and may play regulatory roles in periodontal diseases.", "output": {"entities": {"gene": [{"text": "CD4", "start": 28, "end": 31}], "disease": [{"text": "periodontal diseases", "start": 141, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "These findings warrant further evaluation of the possible therapeutic use of Gas6 inhibition for prevention of thrombosis.", "output": {"entities": {"gene": [{"text": "Gas6", "start": 77, "end": 81}], "disease": [{"text": "thrombosis", "start": 111, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gas6", "start": 77, "end": 81}, "tail": {"text": "thrombosis", "start": 111, "end": 121}}]}}, "schema": []}
{"input": "Multivariate regression analysis showed that patient age, height and CYP2C9, VKORC1 and APOE genotypes significantly contributed to warfarin dose requirement (R = 57%).", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 69, "end": 75}], "disease": [{"text": "height", "start": 58, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "This study investigates whether microsatellite instability (MSI) due to defects of the mismatch repair (MMR) system could be associated with response to cisplatin-based neoadjuvant chemotherapy (NACT) and if cisplatin exposure could select MSI-positive cell clones in cervical cancer.", "output": {"entities": {"gene": [{"text": "NACT", "start": 195, "end": 199}], "disease": [{"text": "microsatellite instability", "start": 32, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "VEGF expression is regulated by hypoxia and cytokines, including insulin-like growth factor-1 (IGF-1).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In mice, prenatal alcohol exposure induced a reduction of cortical vascular density, loss of the radial orientation of microvessels, and altered expression of VEGF receptors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 159, "end": 163}], "disease": [{"text": "prenatal alcohol exposure", "start": 9, "end": 34}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VEGF", "start": 159, "end": 163}, "tail": {"text": "prenatal alcohol exposure", "start": 9, "end": 34}}]}}, "schema": []}
{"input": "Increased proliferation, elevated synthesis of extracellular matrix, particularly collagen, and reduced levels of matrix metalloproteinases seem to contribute to the pathogenesis of gingival overgrowth in HGF patients.", "output": {"entities": {"gene": [{"text": "HGF", "start": 205, "end": 208}], "disease": [{"text": "gingival overgrowth", "start": 182, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Among the tested samples, 25 were positive for the chromosomal translocation t (12; 21), encoding the fusion gene translocation ETS-like leukemia/acute myeloid leukemia 1 (TEL/AML1).", "output": {"entities": {"gene": [{"text": "AML1", "start": 176, "end": 180}], "disease": [{"text": "chromosomal translocation", "start": 51, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The results showed that U87 cells and human glioma tissue expressed PAR2.", "output": {"entities": {"gene": [{"text": "U87", "start": 24, "end": 27}], "disease": [{"text": "glioma", "start": 44, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Polymorphism of Nrf2, an antioxidative gene, is associated with blood pressure and cardiovascular mortality in hemodialysis patients.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 16, "end": 20}], "disease": [{"text": "blood pressure", "start": 64, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Rescuing nerve injury-induced reduction of Kv1. 2 in the injured L5 DRG attenuated the development and maintenance of SNL-induced pain hypersensitivity without affecting acute pain and locomotor function.", "output": {"entities": {"gene": [{"text": "Kv1. 2", "start": 43, "end": 49}], "disease": [{"text": "acute pain", "start": 170, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "However, HBP/vigilin was detected in cardiac myocyte foam cells of an apoE-deficient mouse, demonstrating that HBP/vigilin expression can occur independently of apoE.", "output": {"entities": {"gene": [{"text": "vigilin", "start": 13, "end": 20}], "disease": [{"text": "foam cells", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Although the pathogenesis of seborrhoeic dermatitis remains to be elucidated, expression of cytotoxicity-activating ligands (MICA), recruitment of NK cells, and a local pro-inflammatory microenvironment may facilitate the development of tissue injury.", "output": {"entities": {"gene": [{"text": "MICA", "start": 125, "end": 129}], "disease": [{"text": "seborrhoeic dermatitis", "start": 29, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Here we provide genomic, cellular, and mouse modelling data demonstrating that the polycomb group gene SUZ12 functions as tumour suppressor in PNS tumours, high-grade gliomas and melanomas by cooperating with mutations in NF1.", "output": {"entities": {"gene": [{"text": "SUZ12", "start": 103, "end": 108}], "disease": [{"text": "gliomas", "start": 167, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SUZ12", "start": 103, "end": 108}, "tail": {"text": "gliomas", "start": 167, "end": 174}}]}}, "schema": []}
{"input": "We have recently reported five patients with bilateral adrenocortical hyperplasia (BAH) and Cushing' s syndrome (CS) caused by constitutive activation of the catalytic subunit of protein kinase A (PRKACA).", "output": {"entities": {"gene": [{"text": "PRKACA", "start": 197, "end": 203}], "disease": [{"text": "adrenocortical hyperplasia", "start": 55, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "On Day 21, there was significant aortic neointima formation with increased oxidative DNA damage by immunostaining with 8-hydroxy-2'-deoxyguanosine and enhanced MMP-2 and MMP-9 expressions by Western blotting, which were significantly reduced by oral administration of carvedilol (20 mg/kg/day) or probucol (100 mg/kg/day).", "output": {"entities": {"gene": [{"text": "MMP-2", "start": 160, "end": 165}], "disease": [{"text": "neointima formation", "start": 40, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-2", "start": 160, "end": 165}, "tail": {"text": "neointima formation", "start": 40, "end": 59}}]}}, "schema": []}
{"input": "These data imply that only high affinity interactions between the integrin alpha4beta1 on melanoma cells and VCAM-1 on activated endothelial cells may enhance the metastatic capacity of human beta2/beta3-negative melanoma cells.", "output": {"entities": {"gene": [{"text": "beta3", "start": 198, "end": 203}], "disease": [{"text": "melanoma", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Here, we further elucidated the role of 14-3-3 protein in apoptosis of human glioma U251 and U87 cells by global inhibition of 14-3-3 functions with a general 14-3-3 antagonist, difopein.", "output": {"entities": {"gene": [{"text": "U87", "start": 93, "end": 96}], "disease": [{"text": "glioma", "start": 77, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the effects of DNA-binding small molecules on hypoxia-inducible transcription of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 94, "end": 98}], "disease": [{"text": "hypoxia", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Finally, we show that NMS-873, a small molecule inhibitor of VCP, is a potent HCMV antiviral with potential as a novel host targeting therapeutic for HCMV infection.", "output": {"entities": {"gene": [{"text": "VCP", "start": 61, "end": 64}], "disease": [{"text": "HCMV infection", "start": 150, "end": 164}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VCP", "start": 61, "end": 64}, "tail": {"text": "HCMV infection", "start": 150, "end": 164}}]}}, "schema": []}
{"input": "We observed a > 1 log reduction of HIV-1 viral load, associated with more than hundred fold reduction of CCL2 expression at day 3 of prednisolone treatment.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 105, "end": 109}], "disease": [{"text": "viral load", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Notably, long-term treatment of cells with Wnt3a induces the generation a frequent RUNX1-ETO translocation event.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 83, "end": 88}], "disease": [{"text": "translocation", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Associations of the UCP2 gene locus with asymptomatic carotid atherosclerosis in middle-aged women.", "output": {"entities": {"gene": [{"text": "UCP2 gene", "start": 20, "end": 29}], "disease": [{"text": "asymptomatic", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that LKB1/STK11 may contribute to tumorigenesis in a small fraction of malignant melanomas.", "output": {"entities": {"gene": [{"text": "STK11", "start": 27, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We previously reported a 5' rearrangement of the BCL2 locus in a t (18; 22) variant translocation found in a lymphocytic lymphoma.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 49, "end": 53}], "disease": [{"text": "translocation", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The present study investigated the role of CTLA-4 + 49 A/G, CTLA-4 (AT) (n) 3' UTR, TNF-α-308G/A and TNF-α-238G/A polymorphisms as a susceptibility marker for recurrent miscarriage (RM).", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 43, "end": 49}], "disease": [{"text": "recurrent miscarriage", "start": 159, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "To investigate the genetic basis of late-onset, familial Fuchs endothelial corneal dystrophy (FECD) through screening of the COL8A1 and COL8A2 genes, in which mutations have been associated with both early and late-onset, familial and sporadic FECD.", "output": {"entities": {"gene": [{"text": "COL8A1", "start": 125, "end": 131}], "disease": [{"text": "sporadic", "start": 235, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "KBP expression directly affected neurite growth in a neuron-like cell line (human neuroblastoma SH-SY5Y), in keeping with the central (polymicrogyria) and enteric (HSCR) neuronal developmental defects seen in GOSHS patients.", "output": {"entities": {"gene": [{"text": "KBP", "start": 0, "end": 3}], "disease": [{"text": "GOSHS", "start": 209, "end": 214}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KBP", "start": 0, "end": 3}, "tail": {"text": "GOSHS", "start": 209, "end": 214}}]}}, "schema": []}
{"input": "The involvement of STRAD in 42 PJS associated tumours (sporadic lung, colon, gastric, and ovarian adenocarcinomas) was studied using loss of heterozygosity (LOH) analysis of eight microsatellite markers on chromosome 17, including TP53, BRCA1, and STRAD markers.", "output": {"entities": {"gene": [{"text": "STRAD", "start": 19, "end": 24}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Interaction with CCNH/CDK7 facilitates CtBP2 promoting esophageal squamous cell carcinoma (ESCC) metastasis via upregulating epithelial-mesenchymal transition (EMT) progression.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 17, "end": 21}], "disease": [{"text": "metastasis", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) is a key process in tumor progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 60, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In our study, medication-free subjects with fully remitted major depression underwent a paradigm of catecholamine depletion, via use of the tyrosine hydroxylase inhibitor alpha-methylparatyrosine.", "output": {"entities": {"gene": [{"text": "tyrosine hydroxylase", "start": 140, "end": 160}], "disease": [{"text": "major depression", "start": 59, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tyrosine hydroxylase", "start": 140, "end": 160}, "tail": {"text": "major depression", "start": 59, "end": 75}}]}}, "schema": []}
{"input": "As for genetic alterations for LOH or RER on TP53 and D17S855, 2 (1 borderline tumor and 1 carcinoma) of 14 cases and 4 (1 borderline tumor and 3 carcinomas) of 12 cases, respectively, showed genetic heterogeneities in different histologic areas.", "output": {"entities": {"gene": [{"text": "RER", "start": 38, "end": 41}], "disease": [{"text": "carcinomas", "start": 146, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "In humans, genomewide association studies have identified single nucleotide polymorphisms (SNPs) in the GIPR gene that are strongly associated with body mass index (BMI); however, it is not clear whether genetic variations in the GIP gene are involved in the development of obesity.", "output": {"entities": {"gene": [{"text": "GIP gene", "start": 230, "end": 238}], "disease": [{"text": "body mass index", "start": 148, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in an in vitro study, ACE2 activation prevented the hypoxia-induced cell death and upregulation of HMGB1 in adult cardiomyocytes.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 32, "end": 36}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "MAdCAM-1 antisense oligonucleotides significantly suppressed the development of trinitrobenzene sulfonate colitis clinically and histopathologically compared with controls.", "output": {"entities": {"gene": [{"text": "MAdCAM-1", "start": 0, "end": 8}], "disease": [{"text": "colitis", "start": 106, "end": 113}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MAdCAM-1", "start": 0, "end": 8}, "tail": {"text": "colitis", "start": 106, "end": 113}}]}}, "schema": []}
{"input": "In conclusion, we have identified a possible molecular mechanism for PC-1 overexpression that confers an increased risk for insulin resistance-related abnormalities.", "output": {"entities": {"gene": [{"text": "PC-1", "start": 69, "end": 73}], "disease": [{"text": "abnormalities", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "LC3 expression inversely correlated with depth of invasion, lymph node metastasis, lymphatic invasion, MVD, VEGF-A expression, and poor prognosis.", "output": {"entities": {"gene": [{"text": "LC3", "start": 0, "end": 3}], "disease": [{"text": "lymph node metastasis", "start": 60, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Real-time PCR was performed to detect the expression of RKIP mRNA in 126 pairs of lung tumor tissues (TT) and surrounding normal tissues (sNT).", "output": {"entities": {"gene": [{"text": "RKIP", "start": 56, "end": 60}], "disease": [{"text": "lung tumor", "start": 82, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In the subgroup of hormone receptor (HRec)-negative patients, BRCA1-associated patients (n = 20) had a worse RR (OR, 20% vs 42%, respectively; PD, 70% vs 26%, respectively; P = 0. 03) and a shorter PFS (1. 8 vs 3. 8 months; P = 0. 004) compared with sporadic patients (n = 19).", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 19, "end": 35}], "disease": [{"text": "sporadic", "start": 250, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that Rb inactivation contributes to tumor progression due to not only loss of cell proliferation control but also conversion to an invasive phenotype and that the inhibition of EMT is a novel tumor suppressor function of Rb.", "output": {"entities": {"gene": [{"text": "EMT", "start": 200, "end": 203}], "disease": [{"text": "tumor progression", "start": 59, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "mRNA and protein expression and tissue distribution of P-gps, MRPs, OATP2 and NTCP were assessed in HCC and peritumorous non-neoplastic tissue by reverse transcription polymerase chain reaction, Western blotting and immunohistochemistry, respectively.", "output": {"entities": {"gene": [{"text": "HCC", "start": 100, "end": 103}], "disease": [{"text": "non-neoplastic", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In light of the recent surge in reported infections we have developed asymmetric five-primer reverse transcription loop-mediated isothermal amplification (RT-LAMP) assays for detection of MERS-CoV.", "output": {"entities": {"gene": [{"text": "LAMP", "start": 158, "end": 162}], "disease": [{"text": "infections", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN-Lom (MIM 601455), HMSN-Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168).", "output": {"entities": {"gene": [{"text": "MIM", "start": 168, "end": 171}], "disease": [{"text": "neuropathy", "start": 253, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Using experimental tumors on the chick chorioallantoic membrane (CAM), we observed that STC2 expressing cells show signs of emigration from the solid tumor and destroy blood vessels of the CAM, giving rise to massively bleeding tumors.", "output": {"entities": {"gene": [{"text": "STC2", "start": 88, "end": 92}], "disease": [{"text": "bleeding", "start": 219, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The ERK1/2 signaling pathway plays an important role in the early stage of reactive astrogliosis in mice with pilocarpine-induced SE.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 4, "end": 8}], "disease": [{"text": "astrogliosis", "start": 84, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK1", "start": 4, "end": 8}, "tail": {"text": "astrogliosis", "start": 84, "end": 96}}]}}, "schema": []}
{"input": "Co-amplification of a novel cyclophilin-like gene (PPIE) with L-myc in small cell lung cancer cell lines.", "output": {"entities": {"gene": [{"text": "PPIE", "start": 51, "end": 55}], "disease": [{"text": "small cell lung cancer", "start": 71, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The model contained 13 single-nucleotide polymorphisms (from genes AGTR1, ALOX15, INSR, PRKAB1, IL1R2, ESR2, KCNK1, FBLN5, PPARA, VEGFA, PON1, TDRD6, PLA2G7, and 1 ancestry informative marker) and 5 clinical variables (sex, age, weight, smoking, and diabetes mellitus) and achieved 85% predictive accuracy, as measured by area under the receiver operating characteristic curve.", "output": {"entities": {"gene": [{"text": "PRKAB1", "start": 88, "end": 94}], "disease": [{"text": "weight", "start": 229, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Here we report the clinical and molecular consequences of a particular mutation (p. S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting and hypotonia, prominent distal sensory disturbances, joint hypermobility, bilateral cataracts and considerable growth retardation.", "output": {"entities": {"gene": [{"text": "SPTLC1", "start": 94, "end": 100}], "disease": [{"text": "growth retardation", "start": 269, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "Fourteen Japanese patients with serologically verified NMOsd, 17 patients with multiple sclerosis (MS), and 37 healthy controls were assessed with the Rao' s Brief Repeatable Battery of Neuropsychological Tests (BRBN).", "output": {"entities": {"gene": [{"text": "Rao' s", "start": 151, "end": 157}], "disease": [{"text": "multiple sclerosis", "start": 79, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The surface antigen expression of oMSCs was consistent with that of MSCs; they lacked the hematopoietic and common leukocyte markers (CD34, CD45) while expressing those related to adhesion (CD29, CD166, CD44) and stem cells (CD90, CD105, CD73).", "output": {"entities": {"gene": [{"text": "CD90", "start": 225, "end": 229}], "disease": [{"text": "adhesion", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Since these patients are characterized by insulin resistance and abnormal first-phase insulin secretion, the putative role of islet amyloid polypeptide in the development of these abnormalities remains to be established.", "output": {"entities": {"gene": [{"text": "islet amyloid polypeptide", "start": 126, "end": 151}], "disease": [{"text": "insulin resistance", "start": 42, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The t (8; 21) chromosomal translocation produces AML1-ETO, an oncogenic fusion protein that compromises the function of AML1, a transcription factor critical for myeloid cell differentiation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 49, "end": 53}], "disease": [{"text": "chromosomal translocation", "start": 14, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In addition, the chimeric transcript AML1/MDS1/EVI1 has also been detected in cells from one patient with the 3; 21 translocation as well as in one of our patients.", "output": {"entities": {"gene": [{"text": "AML1", "start": 37, "end": 41}], "disease": [{"text": "translocation", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Nicotine induces the up-regulation of the α7-nicotinic receptor (α7-nAChR) in human squamous cell lung cancer cells via the Sp1/GATA protein pathway.", "output": {"entities": {"gene": [{"text": "GATA", "start": 128, "end": 132}], "disease": [{"text": "squamous cell lung cancer", "start": 84, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Using microarray studies, we show that resveratrol reduced the expression of various prostate-tumor associated microRNAs (miRs) including miR-21 in androgen-receptor negative and highly aggressive human prostate cancer cells, PC-3M-MM2.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 138, "end": 144}], "disease": [{"text": "prostate-tumor", "start": 85, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-21", "start": 138, "end": 144}, "tail": {"text": "prostate-tumor", "start": 85, "end": 99}}]}}, "schema": []}
{"input": "Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 13, "end": 18}], "disease": [{"text": "Wilson disease", "start": 27, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 13, "end": 18}, "tail": {"text": "Wilson disease", "start": 27, "end": 41}}]}}, "schema": []}
{"input": "Dysregulation of transactive response DNA-binding protein-43 (TDP-43) is closely linked to the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U).", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 38, "end": 57}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 111, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 18, "end": 36}], "disease": [{"text": "multiple endocrine neoplasia type 2B", "start": 53, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 18, "end": 36}, "tail": {"text": "multiple endocrine neoplasia type 2B", "start": 53, "end": 89}}]}}, "schema": []}
{"input": "Our findings suggest that ADRA2A plays an important role in depression therapy.", "output": {"entities": {"gene": [{"text": "ADRA2A", "start": 26, "end": 32}], "disease": [{"text": "depression", "start": 60, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADRA2A", "start": 26, "end": 32}, "tail": {"text": "depression", "start": 60, "end": 70}}]}}, "schema": []}
{"input": "Moreover, incisional hernia tissues showed increased MMP/TIMP ratios and de-regulated inflammatory signalling (tumor necrosis factor [TNFA] and interleukin [IL]-6 tended to increase, whereas aponeurosis TNFA receptors decreased).", "output": {"entities": {"gene": [{"text": "TNFA", "start": 134, "end": 138}], "disease": [{"text": "incisional hernia", "start": 10, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The 102 cases included patients with diffuse large B-cell lymphoma (DLBCL; n = 53), Hodgkin lymphoma (n = 9), polymorphic B-cell LPD (n = 20), reactive lymphadenitis (n = 11), peripheral T-cell lymphoma (PTCL; n = 4), composite lymphoma (n = 2), and follicular lymphoma (n = 3).", "output": {"entities": {"gene": [{"text": "LPD", "start": 129, "end": 132}], "disease": [{"text": "composite lymphoma", "start": 218, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "This finding indicates that a major component of the abnormal temporal filtering responsible for the ERG abnormalities in XLRS occurs beyond the level of the early retinal nonlinearity that generates the harmonic components of the ERG response, and therefore is most likely postreceptoral in origin.", "output": {"entities": {"gene": [{"text": "ERG", "start": 101, "end": 104}], "disease": [{"text": "abnormalities", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Blockade of Rac1 activation with ectopic expression of an inactive mutant form of Rac1 (T17N) or Rac1 siRNA downregulated hypoxia-induced HIF-1α and VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 149, "end": 153}], "disease": [{"text": "hypoxia", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that variations in the beta2-AR gene play an important role in the pathogenesis of sporadic LOAD, and interact with the epsilon4 allele to markedly increase the LOAD risk.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 49, "end": 56}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In support of the likelihood that these effects explained FKBPL-mediated cell growth inhibition and sensitivity to endocrine therapies, FKBPL expression was correlated with increased overall survival and distant metastasis-free survival in breast cancer patients.", "output": {"entities": {"gene": [{"text": "FKBPL", "start": 58, "end": 63}], "disease": [{"text": "breast cancer", "start": 240, "end": 253}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FKBPL", "start": 58, "end": 63}, "tail": {"text": "breast cancer", "start": 240, "end": 253}}]}}, "schema": []}
{"input": "These data demonstrate that the DRBP76/NF90 isoform facilitates VEGF expression by promoting VEGF mRNA loading onto polysomes and translation under hypoxic conditions, thus promoting breast cancer growth and angiogenesis in vivo.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 64, "end": 68}], "disease": [{"text": "hypoxic", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In neuroendocrine prostate cancer mouse model derived allograft NE-10 tumors, δ-catenin showed an increased expression while Hes1 expression was diminished.", "output": {"entities": {"gene": [{"text": "Hes1", "start": 125, "end": 129}], "disease": [{"text": "prostate cancer", "start": 18, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, N41S, which is part of the signal we identified, is the first and only Wilson disease-causing missense mutation in residues 1-63 of ATP7B.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 145, "end": 150}], "disease": [{"text": "Wilson disease", "start": 84, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 145, "end": 150}, "tail": {"text": "Wilson disease", "start": 84, "end": 98}}]}}, "schema": []}
{"input": "Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 60, "end": 64}], "disease": [{"text": "Weaver syndrome", "start": 179, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EZH2", "start": 60, "end": 64}, "tail": {"text": "Weaver syndrome", "start": 179, "end": 194}}]}}, "schema": []}
{"input": "Rats with drebrin A in vivo knockdown displayed a stronger preference for a previous event due to perseverative behavior, impaired pre-pulse inhibition (PPI), increased locomotor activity, anxiety-like behavior, and an increased sensitivity to psychostimulant, suggesting behaviors related to schizophrenia.", "output": {"entities": {"gene": [{"text": "drebrin A", "start": 10, "end": 19}], "disease": [{"text": "schizophrenia", "start": 293, "end": 306}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "drebrin A", "start": 10, "end": 19}, "tail": {"text": "schizophrenia", "start": 293, "end": 306}}]}}, "schema": []}
{"input": "Western blotting demonstrated that NF-kappaB was more activated in CSF cells of patients with bacterial meningitis than in those of patients with aseptic meningitis.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 35, "end": 44}], "disease": [{"text": "aseptic meningitis", "start": 146, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "bcl-2 is a marker for the translocation t (14; 18) (q32; q21) indicative of follicular B-cell lymphoma.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four of the differentially regulated genes were previously identified by genome-wide association studies of alcohol use disorders; this raises the potential interest of genes not normally associated with alcoholism, such as suppression of tumorigenicity 18 (ST18), BCL2-associated athanogene 3 (BAG3), and von Willebrand factor (VWF).", "output": {"entities": {"gene": [{"text": "ST18", "start": 265, "end": 269}], "disease": [{"text": "alcoholism", "start": 211, "end": 221}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ST18", "start": 265, "end": 269}, "tail": {"text": "alcoholism", "start": 211, "end": 221}}]}}, "schema": []}
{"input": "The results showed that CXCL12 could enhance the resistance of K562 cells to adriamycin (ADM) by increasing the expression of CXCR4, up-regulating the downstream PI3K/Akt pathway, and promoting translocation of NF-κB dimers into nucleus and subsequently decreasing the expression of apoptosis-related proteins in K562 cells.", "output": {"entities": {"gene": [{"text": "ADM", "start": 89, "end": 92}], "disease": [{"text": "translocation", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The recently proposed adaptor protein 4 (AP-4) deficiency syndrome comprises a group of congenital neurological disorders characterized by severe intellectual disability (ID), delayed or absent speech, hereditary spastic paraplegia, and growth retardation.", "output": {"entities": {"gene": [{"text": "AP-4", "start": 41, "end": 45}], "disease": [{"text": "absent speech", "start": 187, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Primary hyperparathyroidism (pHPT) is characterized by excessive production of parathyroid hormone (PTH) due to parathyroid adenomas while uremic secondary HPT (sHPT) is caused by parathyroid hyperplasia in response to renal failure.", "output": {"entities": {"gene": [{"text": "HPT", "start": 30, "end": 33}], "disease": [{"text": "parathyroid hyperplasia", "start": 180, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "To identify mutations in LPAR6 and LIPH genes in 17 consanguineous Pakistani families showing features of hypotrichosis/woolly hair.", "output": {"entities": {"gene": [{"text": "LPAR6", "start": 25, "end": 30}], "disease": [{"text": "woolly hair", "start": 120, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPAR6", "start": 25, "end": 30}, "tail": {"text": "woolly hair", "start": 120, "end": 131}}]}}, "schema": []}
{"input": "Inhibition of mTOR attenuates store-operated Ca2 + entry in cells from endarterectomized tissues of patients with chronic thromboembolic pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 45, "end": 48}], "disease": [{"text": "chronic thromboembolic pulmonary hypertension", "start": 114, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The panic-inducing properties of pentagastrin are not specific for panic disorder patients, which might be indicative of a common neurobiological dysfunction in panic disorder and OCD at the level of CCK-B receptors.", "output": {"entities": {"gene": [{"text": "CCK-B", "start": 200, "end": 205}], "disease": [{"text": "OCD", "start": 180, "end": 183}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCK-B", "start": 200, "end": 205}, "tail": {"text": "OCD", "start": 180, "end": 183}}]}}, "schema": []}
{"input": "By immunohistochemistry, strongly IL-18-positive cells were distributed predominantly at the boundary zone of the granulomas.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 34, "end": 39}], "disease": [{"text": "granulomas", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We compared the prevalence of GSTT1 and GSTM1 deletion genotypes in 108 Arab patients with optic neuritis (ON, 26 patients), LHON-like optic neuropathy (LLON, 35 patients), sporadic bilateral optic neuropathy in children (SBON, 21 patients) and non-arteritic ischaemic optic neuropathy (NAION, 26 patients) to 120 ethnicity-matched controls.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 40, "end": 45}], "disease": [{"text": "sporadic", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we sought to rigorously examine the PTH 3'-UTR in patients with primary and secondary parathyroid disorders, including primary parathyroid hyperplasia, secondary parathyroid hyperplasia, sporadic parathyroid adenoma and familial hypoparathyroidism of unknown genetic basis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 54, "end": 57}], "disease": [{"text": "parathyroid disorders", "start": 97, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "A significant correlation was found between TE and mean corpuscular hemoglobin (MCH), A and mean corpuscular volume, and TE/A and mean cell hemoglobin concentration (MCHC) for the cases studied.", "output": {"entities": {"gene": [{"text": "MCH", "start": 80, "end": 83}], "disease": [{"text": "mean corpuscular volume", "start": 92, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Based on our findings, the LEPR Gln223Arg polymorphism could be considered a disease susceptibility modulating factor both in ischemic heart disease or dilated cardiomyopathy patients.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 27, "end": 31}], "disease": [{"text": "dilated cardiomyopathy", "start": 152, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "This speculation was partially confirmed by the detection of elevated bcl-2 expression levels in CD4 + peripheral blood T cells from patients with MM compared with those from patients with ASB or healthy donors.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 70, "end": 75}], "disease": [{"text": "MM", "start": 147, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bcl-2", "start": 70, "end": 75}, "tail": {"text": "MM", "start": 147, "end": 149}}]}}, "schema": []}
{"input": "The reverse process, epithelium to mesenchyme transition (EMT), has been implicated in epithelial tumor progression and in the fibrosis that leads to end-stage kidney failure.", "output": {"entities": {"gene": [{"text": "EMT", "start": 58, "end": 61}], "disease": [{"text": "tumor progression", "start": 98, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The aim was to assess both the phenotype in Brazilian WD patients and the corresponding ATP7B genotype.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 88, "end": 93}], "disease": [{"text": "WD", "start": 54, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 88, "end": 93}, "tail": {"text": "WD", "start": 54, "end": 56}}]}}, "schema": []}
{"input": "Fifteen of the 20 genes were methylated in more than one of 21 primary breast cancers in Stages I or II, and especially, those of LOC346978, HOXD11, SIM1, PCDHGB6 and FLJ25161 were methylated in more than 10 cancers.", "output": {"entities": {"gene": [{"text": "HOXD11", "start": 141, "end": 147}], "disease": [{"text": "breast cancers", "start": 71, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXD11", "start": 141, "end": 147}, "tail": {"text": "breast cancers", "start": 71, "end": 85}}]}}, "schema": []}
{"input": "Intratumoral treatment of BalbC/nude mice bearing subcutaneous U87 glioma xenografts with AdM40 at a total dose of 1. 2 x 10 (10) plaque-forming units (pfu) resulted in statistically significant tumor regression as compared with control animals either treated with AdN40 (p = 0. 01) or untreated animals (p = 0. 01).", "output": {"entities": {"gene": [{"text": "U87", "start": 63, "end": 66}], "disease": [{"text": "glioma", "start": 67, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "However, the relation between DDX3 and hypoxia has not been addressed in human tumors.", "output": {"entities": {"gene": [{"text": "DDX3", "start": 30, "end": 34}], "disease": [{"text": "hypoxia", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "AHR Activation Is Protective against Colitis Driven by T Cells in Humanized Mice.", "output": {"entities": {"gene": [{"text": "AHR", "start": 0, "end": 3}], "disease": [{"text": "Colitis", "start": 37, "end": 44}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AHR", "start": 0, "end": 3}, "tail": {"text": "Colitis", "start": 37, "end": 44}}]}}, "schema": []}
{"input": "To analyse the K6a gene mutation in a sporadic Chinese patient with pachyonychia congenita type 1 (PC-1) and to explore the relationship between the genotype and phenotype of PC-1.", "output": {"entities": {"gene": [{"text": "PC-1", "start": 99, "end": 103}], "disease": [{"text": "sporadic", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The achondroplasia class of chondrodysplasias comprises the most common genetic forms of dwarfism in humans and includes achondroplasia, hypochondroplasia and thanatophoric dysplasia types I and II (TDI and TDII), which are caused by different mutations in a fibroblast growth-factor receptor FGFR3 (ref.", "output": {"entities": {"gene": [{"text": "TDI", "start": 199, "end": 202}], "disease": [{"text": "achondroplasia", "start": 4, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The atypical late-onset phenotype may not be associated with ENPP1 abnormalities.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 61, "end": 66}], "disease": [{"text": "abnormalities", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We recently described a Japanese family with increased HDL levels and CETP deficiency due to a splicing defect of the CETP gene.", "output": {"entities": {"gene": [{"text": "CETP", "start": 70, "end": 74}], "disease": [{"text": "CETP deficiency", "start": 70, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CETP", "start": 70, "end": 74}, "tail": {"text": "CETP deficiency", "start": 70, "end": 85}}]}}, "schema": []}
{"input": "Several groups have shown that FUS binds broadly to many transcripts in the brain and have also identified a plethora of putative splice targets; however, only ABLIM1, BRAF, Ewing sarcoma protein R1 (EWSR1), microtubule-associated protein tau (MAPT), NgCAM cell adhesion molecule (NRCAM), and netrin G1 (NTNG1) have been identified in at least three of four studies.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 200, "end": 205}], "disease": [{"text": "plethora", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The SCA8 phenotype manifested by cerebellar symptoms and atrophy corresponded to features of the autosomal dominant cerebellar ataxia type III (ADCA III).", "output": {"entities": {"gene": [{"text": "ADCA", "start": 144, "end": 148}], "disease": [{"text": "atrophy", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We screened mutations in C9orf72, SOD1, FUS, TARDBP, ANG, VCP and PFN1 in 16 juvenile sporadic ALS patients.", "output": {"entities": {"gene": [{"text": "FUS", "start": 40, "end": 43}], "disease": [{"text": "sporadic", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Surveys of SLOS patients have identified more than one hundred point mutations of the DHCR7 gene, most of which are missense mutations.", "output": {"entities": {"gene": [{"text": "DHCR7", "start": 86, "end": 91}], "disease": [{"text": "SLOS", "start": 11, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DHCR7", "start": 86, "end": 91}, "tail": {"text": "SLOS", "start": 11, "end": 15}}]}}, "schema": []}
{"input": "Thus, we conclude that HEXIM1 could prevent RV hypertrophy, at least in part, via suppression of myocardial angiogenesis through down-regulation of HIF-1α and VEGF in the myocardium under hypoxic condition.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 159, "end": 163}], "disease": [{"text": "hypoxic", "start": 188, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "As shown previously for apoptosis induced by Ki-Ras (G12V), CNK1-induced apoptosis is suppressed by a dominant inhibitor of the mammalian sterile 20 kinases 1 and (MST1/MST2).", "output": {"entities": {"gene": [{"text": "Ki-Ras", "start": 45, "end": 51}], "disease": [{"text": "sterile", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Polymorphic GGC repeats in the androgen receptor gene are associated with hereditary and sporadic prostate cancer risk.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 31, "end": 53}], "disease": [{"text": "sporadic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Compared with the GG + GC group, men with the CC genotype had modestly, but not significantly, higher baseline levels of IL-6, C-reactive protein, or fibrinogen but showed a significantly greater fall in LDL cholesterol with statin treatment (P = 0. 036).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 127, "end": 145}], "disease": [{"text": "fall", "start": 196, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "METHODS: This study investigated gene mutations in a Han Chinese family of lung cancer using the whole genome exome sequencing and subsequent Sanger sequencing validation and then confirmed alteration of prominin 1 (PROM1) and cyclic AMP-response element binding protein-regulated transcription co-activator2 (CRTC2) in blood samples of 343 sporadic lung cancer patients vs. 280 healthy controls as well as in 200 pairs of lung cancer and the corresponding normal tissues using PCR-restriction fragment length polymorphism and directed DNA sequencing of PCR products.", "output": {"entities": {"gene": [{"text": "PROM1", "start": 216, "end": 221}], "disease": [{"text": "sporadic", "start": 341, "end": 349}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate whether common variants in genes CDKAL1, HHEX, ADCY5, SRR, PTPRD that predisposed to type 2 diabetes were also associated with reduced birthweight in Chinese Han population.", "output": {"entities": {"gene": [{"text": "SRR", "start": 95, "end": 98}], "disease": [{"text": "birthweight", "start": 176, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Available data sets suggest that RalA mRNA is also overexpressed in seminoma, glioblastoma, and carcinomas of the liver, pancreas, and prostate.", "output": {"entities": {"gene": [{"text": "RalA", "start": 33, "end": 37}], "disease": [{"text": "seminoma", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "If PKR functions as a tumour suppressor in this system, its expression would be higher in chronic hepatitis tissues.", "output": {"entities": {"gene": [{"text": "PKR", "start": 3, "end": 6}], "disease": [{"text": "chronic hepatitis", "start": 90, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "In the multivariate Cox regression model, HLA-B38 (p = 0. 021), HLA-C15 (p = 0. 025), HLA-C3 (p = 0. 014), DRB1 * 15 (p = 0. 005) and CT60 * G/G (0. 081) were significantly associated with OS with risk ratio of 0. 097 (95% CI, 0. 013-0. 709), 0. 387 (95% CI, 0. 169-0. 889), 0. 449 (95% CI, 0. 237-0. 851), 1. 948 (95% CI, 1. 221-3. 109) and 1. 484 (95% IC, 0. 953-2. 312) respectively.", "output": {"entities": {"gene": [{"text": "C15", "start": 68, "end": 71}], "disease": [{"text": "regression", "start": 24, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Also one EVC2 gene mutation found in Weyers acrofacial dysostosis was novel.", "output": {"entities": {"gene": [{"text": "EVC2", "start": 9, "end": 13}], "disease": [{"text": "Weyers acrofacial dysostosis", "start": 37, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EVC2", "start": 9, "end": 13}, "tail": {"text": "Weyers acrofacial dysostosis", "start": 37, "end": 65}}]}}, "schema": []}
{"input": "These results help to establish large-magnitude 5-HT (1A) receptor activation as a new molecular mechanism of profound, central analgesia and suggest that F 13640 may be particularly effective against pain arising from severe tonic nociceptive stimulation.", "output": {"entities": {"gene": [{"text": "5-HT (1A", "start": 48, "end": 56}], "disease": [{"text": "pain", "start": 201, "end": 205}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "5-HT (1A", "start": 48, "end": 56}, "tail": {"text": "pain", "start": 201, "end": 205}}]}}, "schema": []}
{"input": "Expression of CDK5/p35, interaction of CDK5/p35 with adhesion molecules, and its roles in cell-cell and cell-matrix adhesion were studied by reverse transcriptase-polymerase chain reaction, immunoblotting and aggregation/adhesion assays in primary cultured normal human keratinocytes from infant foreskins and a human keratinocyte HaCaT cell line.", "output": {"entities": {"gene": [{"text": "CDK5", "start": 14, "end": 18}], "disease": [{"text": "adhesion", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In cultures of leukemia cells from 21 of 30 patients examined, cells with stellate morphology and cell fractions with CD1a (+) and/or CD83 (+) were present.", "output": {"entities": {"gene": [{"text": "CD83", "start": 134, "end": 138}], "disease": [{"text": "leukemia", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "In other contexts, both the NF & #954; B (nuclear factor & #954; B) pathway and the ASK1 (apoptosis signaling kinase 1) pathway have been shown to be regulated by both Grx1 and Trx1, and both pathways have been implicated in cell death signaling in model systems of PD.", "output": {"entities": {"gene": [{"text": "ASK1", "start": 84, "end": 88}], "disease": [{"text": "PD", "start": 266, "end": 268}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ASK1", "start": 84, "end": 88}, "tail": {"text": "PD", "start": 266, "end": 268}}]}}, "schema": []}
{"input": "We showed that hyperactivated STAT3 in esophageal carcinogenesis tissues correlated with the overexpression of octamer transcription factor-1 (Oct-1).", "output": {"entities": {"gene": [{"text": "STAT3", "start": 30, "end": 35}], "disease": [{"text": "esophageal", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "These and other data suggest that genes at 18q21. 3, other than BCL2 and FVT1, may be targets for translocation in certain subgroups of B-NHL.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 64, "end": 68}], "disease": [{"text": "translocation", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Alexander disease with occipital predominance and a novel c. 799G & gt; C mutation in the GFAP gene.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 90, "end": 94}], "disease": [{"text": "Alexander disease", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 90, "end": 94}, "tail": {"text": "Alexander disease", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes.", "output": {"entities": {"gene": [{"text": "CEP120", "start": 4, "end": 10}], "disease": [{"text": "JS", "start": 59, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CEP120", "start": 4, "end": 10}, "tail": {"text": "JS", "start": 59, "end": 61}}]}}, "schema": []}
{"input": "The aim of this study was to evaluate the effect of VEGF-A expression on tumor growth, perfusion, and chemotherapeutic efficacy in orthotopic 9L gliosarcomas.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 52, "end": 58}], "disease": [{"text": "gliosarcomas", "start": 145, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VEGF-A", "start": 52, "end": 58}, "tail": {"text": "gliosarcomas", "start": 145, "end": 157}}]}}, "schema": []}
{"input": "The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 106, "end": 127}], "disease": [{"text": "Fabry disease", "start": 22, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 106, "end": 127}, "tail": {"text": "Fabry disease", "start": 22, "end": 35}}]}}, "schema": []}
{"input": "Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.", "output": {"entities": {"gene": [{"text": "11 beta-hydroxysteroid dehydrogenase type 2", "start": 32, "end": 75}], "disease": [{"text": "apparent mineralocorticoid excess", "start": 94, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "11 beta-hydroxysteroid dehydrogenase type 2", "start": 32, "end": 75}, "tail": {"text": "apparent mineralocorticoid excess", "start": 94, "end": 127}}]}}, "schema": []}
{"input": "Whereas RAGE was equally reduced in thymic hyperplasia and epithelial tumors (p = 0. 003), HMGB1 was only elevated in malignancies (p = 0. 036).", "output": {"entities": {"gene": [{"text": "RAGE", "start": 8, "end": 12}], "disease": [{"text": "thymic hyperplasia", "start": 36, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Finally, the 5-FU-resistant cancer cells could be selectively ablated by treatment with miR-145.", "output": {"entities": {"gene": [{"text": "miR-145", "start": 88, "end": 95}], "disease": [{"text": "resistant cancer", "start": 18, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Three hereditary gastric cancer syndromes have been described; hereditary diffuse gastric cancer (HDGC), familial intestinal gastric cancer (FIGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).", "output": {"entities": {"gene": [{"text": "FIGC", "start": 141, "end": 145}], "disease": [{"text": "gastric adenocarcinoma", "start": 151, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The mutant, AANAT knocked down C57BL/6J mice displayed significantly longer times of immobility (\" depression \").", "output": {"entities": {"gene": [{"text": "AANAT", "start": 12, "end": 17}], "disease": [{"text": "depression", "start": 99, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AANAT", "start": 12, "end": 17}, "tail": {"text": "depression", "start": 99, "end": 109}}]}}, "schema": []}
{"input": "Thus, RBP4 and PLAC8 may become new therapeutic targets for prostate cancer bone metastasis, in combination with OPG/RANKL/RANK pathway inhibition.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 6, "end": 10}], "disease": [{"text": "bone metastasis", "start": 76, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, overexpression of Sp1 in highly invasive lung adenocarcinoma cells increased expression of E-cadherin, a suppressor of metastasis, and attenuated the translocation of β-catenin into the cellular nucleus that leads to tumor malignancy.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 104, "end": 114}], "disease": [{"text": "translocation", "start": 163, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17) (p11. 2p12).", "output": {"entities": {"gene": [{"text": "p11", "start": 131, "end": 134}], "disease": [{"text": "autism", "start": 75, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Our hypothesis was that in human mesothelioma without detectable NF2 mutations, regulators of NF2/merlin activity such as CPI-17 would be altered.", "output": {"entities": {"gene": [{"text": "CPI-17", "start": 122, "end": 128}], "disease": [{"text": "mesothelioma", "start": 33, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CPI-17", "start": 122, "end": 128}, "tail": {"text": "mesothelioma", "start": 33, "end": 45}}]}}, "schema": []}
{"input": "Six differentially regulated genes (DRGs) (FOSL1, SRF, JUN, TFAP4, SOX9, and HLF) and 16 transcription factor-to-target differentially co-expressed gene links or pairs (TF2target DCLs) appear to be the key differential factors in MDD; in contrast, one DRG (PATZ1) and eight TF2target DCLs appear to be the key differential factors in SSD.", "output": {"entities": {"gene": [{"text": "HLF", "start": 77, "end": 80}], "disease": [{"text": "MDD", "start": 230, "end": 233}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HLF", "start": 77, "end": 80}, "tail": {"text": "MDD", "start": 230, "end": 233}}]}}, "schema": []}
{"input": "Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.", "output": {"entities": {"gene": [{"text": "OBFC1", "start": 122, "end": 127}], "disease": [{"text": "EOC", "start": 201, "end": 204}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OBFC1", "start": 122, "end": 127}, "tail": {"text": "EOC", "start": 201, "end": 204}}]}}, "schema": []}
{"input": "Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and deafness.", "output": {"entities": {"gene": [{"text": "MIM", "start": 20, "end": 23}], "disease": [{"text": "dysmorphic features", "start": 127, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We further found that L389S senataxin interacts with other proteins containing regions of conserved homology with the BCYRN1 reverse complement-encoded peptide, suggesting that such aberrant protein interactions may contribute to L389S ALS4 disease pathogenesis.", "output": {"entities": {"gene": [{"text": "senataxin", "start": 28, "end": 37}], "disease": [{"text": "ALS4", "start": 236, "end": 240}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "senataxin", "start": 28, "end": 37}, "tail": {"text": "ALS4", "start": 236, "end": 240}}]}}, "schema": []}
{"input": "Three cases presented a chromosomal translocation between CCND3 and the immunoglobulin heavy chain (IGH) loci, t (6; 14) (p21; q32).", "output": {"entities": {"gene": [{"text": "CCND3", "start": 58, "end": 63}], "disease": [{"text": "chromosomal translocation", "start": 24, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In order to illustrate the effect of CXCR4 on glioma metastasis, we investigated the role of CXCR4 in U87 cells metastasis based on the CXCR4 silencing tumor cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 102, "end": 105}], "disease": [{"text": "glioma", "start": 46, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "There were no relation of the expressions of hepatic IR and PI3K and the insulin resistance in adult male rats with IUGR.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 60, "end": 64}], "disease": [{"text": "insulin resistance", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In this study, we analyzed mutations of the responsible gene, ATP7B, in four Japanese patients with WD.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 62, "end": 67}], "disease": [{"text": "WD", "start": 100, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 62, "end": 67}, "tail": {"text": "WD", "start": 100, "end": 102}}]}}, "schema": []}
{"input": "To investigate the cardioprotective role of CacyBP/SIP in cardiomyocytes, a hypoxia/reoxygenation model was employed.", "output": {"entities": {"gene": [{"text": "SIP", "start": 51, "end": 54}], "disease": [{"text": "hypoxia", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "AVPR1A RS3 was not associated with schizophrenia.", "output": {"entities": {"gene": [{"text": "AVPR1A", "start": 0, "end": 6}], "disease": [{"text": "schizophrenia", "start": 35, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AVPR1A", "start": 0, "end": 6}, "tail": {"text": "schizophrenia", "start": 35, "end": 48}}]}}, "schema": []}
{"input": "Also, IFN-gamma production by decidual and peripheral blood mononuclear cells after CTLA-4/Fc treatment in spontaneous abortion cases was significantly lower than those in normal pregnancy subjects.", "output": {"entities": {"gene": [{"text": "IFN", "start": 6, "end": 9}], "disease": [{"text": "spontaneous abortion", "start": 107, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "We show that homozygous mutations affecting exons 1-4 of human AMN lead to selective malabsorption of vitamin B12 (a phenotype associated with megaloblastic anemia 1, MGA1; OMIM 261100; refs.", "output": {"entities": {"gene": [{"text": "AMN", "start": 63, "end": 66}], "disease": [{"text": "megaloblastic anemia 1", "start": 143, "end": 165}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AMN", "start": 63, "end": 66}, "tail": {"text": "megaloblastic anemia 1", "start": 143, "end": 165}}]}}, "schema": []}
{"input": "We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disorder of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.", "output": {"entities": {"gene": [{"text": "nuclear body protein Sp110", "start": 33, "end": 59}], "disease": [{"text": "hypogammaglobulinemia", "start": 164, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In this study, we tested whether EMT confers resistance to complement-dependent cytotoxicity (CDC) in lung cancer cells and promotes tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 33, "end": 36}], "disease": [{"text": "tumor progression", "start": 133, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of XB130 enhanced NNK-induced protein tyrosine phosphorylation and promoted matrix metalloproteinase-14 translocation to cell motility-associated cellular structures after NNK stimulation.", "output": {"entities": {"gene": [{"text": "XB130", "start": 18, "end": 23}], "disease": [{"text": "translocation", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: Together, these data highlight a broader role for dysregulated MAPK7 in driving tumorigenesis within niche populations of highly prevalent tumor types, and describe current efforts in establishing a robust drug discovery screening cascade.", "output": {"entities": {"gene": [{"text": "MAPK7", "start": 76, "end": 81}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "However, the role of mismatch repair (MMR) proteins and microsatellite instability (MSI) in transitional cell carcinoma of the bladder is less clear.", "output": {"entities": {"gene": [{"text": "MMR", "start": 38, "end": 41}], "disease": [{"text": "microsatellite instability", "start": 56, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Here, we identify the SRY-related high-morbidity-group (HMG) box 5 (SOX5) gene on chromosome 12p12 as a novel IGH-involved translocation partner in the case of BCL2-negative follicular lymphoma (FL) with a complex karyotype including t (12; 14) (p12. 2; q32) by long-distance inverse PCR.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 160, "end": 164}], "disease": [{"text": "translocation", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The product of this chromosomal translocation is the chimeric gene COL1A1-PDGFB (collagen type I alpha I-platelet-derived growth factor beta), which is amplified at low levels in the ring chromosome.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 74, "end": 79}], "disease": [{"text": "chromosomal translocation", "start": 20, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "NKD2 impedes gastric cancer metastasis by inhibiting SOX18.", "output": {"entities": {"gene": [{"text": "SOX18", "start": 53, "end": 58}], "disease": [{"text": "gastric cancer", "start": 13, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We identified significant associations of childhood ALL risk with haplotypes of ABCB1, ARNT, CYP2C8, CYP1A2, CYP1B1, and IDH1.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 109, "end": 115}], "disease": [{"text": "ALL", "start": 52, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1B1", "start": 109, "end": 115}, "tail": {"text": "ALL", "start": 52, "end": 55}}]}}, "schema": []}
{"input": "In the subset of 1, 942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association.", "output": {"entities": {"gene": [{"text": "SNAP25", "start": 128, "end": 134}], "disease": [{"text": "epilepsy", "start": 51, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SNAP25", "start": 128, "end": 134}, "tail": {"text": "epilepsy", "start": 51, "end": 59}}]}}, "schema": []}
{"input": "The present studies sought to define the clinical, post-mortem and neurophysiological phenotypes in ALS families with FUS mutations and to determine the frequency of FUS mutations in familial and sporadic ALS.", "output": {"entities": {"gene": [{"text": "FUS", "start": 118, "end": 121}], "disease": [{"text": "sporadic", "start": 196, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Tubular proteinuria was assessed by measuring urinary retinol-binding protein (RBP), beta2-microglobulin (beta2M), alpha1-microglobulin (alpha1M), and albumin in 138 patients: 26 affected males and 24 female carriers of the X-linked syndrome \" Dent' s disease, \" 6 patients with other Fanconi syndromes, 17 with distal renal tubular acidosis (dRTA), 39 with glomerulonephritis (GN), and 26 with Chinese herbs nephropathy (CHN).", "output": {"entities": {"gene": [{"text": "CHN", "start": 422, "end": 425}], "disease": [{"text": "glomerulonephritis", "start": 358, "end": 376}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that tumor VEGF markedly induced sinusoidal vasculature dilation in bone marrow (BM) and BMC mobilization to tumors and peripheral tissues in mouse and human tumor models.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 27, "end": 31}], "disease": [{"text": "dilation", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Mutator phenotype was assessed by assaying microsatellite instability (MSI) at 24 markers, hMLH1-promoter methylation, mutations at MMR genes (hMLH1, hMSH2, hMSH6, and hPMS2), and immune staining of MMR proteins (hMLH1, hMSH2, hMSH6, hPMS1, and hPMS2).", "output": {"entities": {"gene": [{"text": "MMR", "start": 132, "end": 135}], "disease": [{"text": "microsatellite instability", "start": 43, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.", "output": {"entities": {"gene": [{"text": "Pit-1", "start": 113, "end": 118}], "disease": [{"text": "pituitary hormone deficiency", "start": 18, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The aims of this study were to determine the effect of 1) human preterm labor on SIRT6 expression in human gestational tissue and 2) the effect in primary amnion cells of SIRT6 inhibition, using small interfering RNA (siRNA) on prolabor mediators.", "output": {"entities": {"gene": [{"text": "SIRT6", "start": 81, "end": 86}], "disease": [{"text": "preterm labor", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Using an online SAGE database (http://www. ncbi. nlm. gov/SAGE), we found the tag for mesothelin to be consistently present in the mesothelioma, ovarian cancer, and pancreatic cancer libraries but not in normal pancreas libraries.", "output": {"entities": {"gene": [{"text": "mesothelin", "start": 86, "end": 96}], "disease": [{"text": "ovarian cancer", "start": 145, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mesothelin", "start": 86, "end": 96}, "tail": {"text": "ovarian cancer", "start": 145, "end": 159}}]}}, "schema": []}
{"input": "We reprogrammed CD3 + CD8 +, CD3 + CD4 +, and natural killer (NK) cells toward autologous and allogeneic targets such as B cells, Daudi lymphoma, primary melanoma, breast ductal carcinoma, breast adenocarcinoma, and rhabdomyosarcoma.", "output": {"entities": {"gene": [{"text": "CD4", "start": 35, "end": 38}], "disease": [{"text": "breast adenocarcinoma", "start": 189, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Sprague-Dawley rats were given water containing 175 mg/l NNM for 8 weeks and received intraperitoneal injections of a bcl-2 antisense phosphorothioate oligonucleotide, a sense oligonucleotide or a scrambled sequence oligonucleotide encapsulated in empty liposomes, at a dose of 150 microg oligonucleotide/kg body weight, every 4 weeks.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 118, "end": 123}], "disease": [{"text": "body weight", "start": 308, "end": 319}]}, "relations": {}}, "schema": []}
{"input": "Reversion was particularly evident for 7 genes: SOCS2, TNFAIP3, NR4A2, CXCR4, POLR2J, FAM49B, and STAG3L1, most of which encode negative regulators of inflammation.", "output": {"entities": {"gene": [{"text": "NR4A2", "start": 64, "end": 69}], "disease": [{"text": "inflammation", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).", "output": {"entities": {"gene": [{"text": "beta-sarcoglycan", "start": 22, "end": 38}], "disease": [{"text": "limb-girdle muscular dystrophy type 2E", "start": 91, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-sarcoglycan", "start": 22, "end": 38}, "tail": {"text": "limb-girdle muscular dystrophy type 2E", "start": 91, "end": 129}}]}}, "schema": []}
{"input": "Three hundred sixty-four Mexican Mestizo Mexico City residents from 87 families with at least one smoker were assessed for association of 12 gene variants of six candidate genes (CHRNA4, CHRNB2, DRD2, ANKK1, SLC6A3, and CYP2A6) with cigarette consumption, age of initiation and smoking duration.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 195, "end": 199}], "disease": [{"text": "smoking", "start": 278, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "The nerve growth factor receptor TrkA interacted similarly with Rab7 wild-type and CMT2B mutant proteins, but the mutant proteins significantly enhanced TrkA phosphorylation in response to brief NGF stimulation.", "output": {"entities": {"gene": [{"text": "Rab7", "start": 64, "end": 68}], "disease": [{"text": "CMT2B", "start": 83, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Rab7", "start": 64, "end": 68}, "tail": {"text": "CMT2B", "start": 83, "end": 88}}]}}, "schema": []}
{"input": "CONCLUSION: Reduction of VEGF and eNOS in gestational hypertension may lead to hypoperfusion and subsequent hypoxia of fetus in hypertensive pregnancy.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 25, "end": 29}], "disease": [{"text": "hypoxia", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In the past 18 months, a number of independent groups have begun to define novel PIDs caused by defects in the caspase recruitment domain family, member 11 (CARD11)-B-cell chronic lymphocytic leukemia/lymphoma 10 (BCL10)-mucosa-associated lymphoid tissue lymphoma translocation gene 1 (MALT1 [CBM]) signalosome complex.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 286, "end": 291}], "disease": [{"text": "translocation", "start": 264, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "Using this breast cancer (BC) model, we find that in addition to EGF, adhesion to fibronectin (FN) activates signal transducer and activator of transcription 3 (STAT3) through EGFR-dependent and-independent mechanisms.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 176, "end": 180}], "disease": [{"text": "adhesion", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, FISH mapping of two patients with partial monosomy 21 using YAC and cosmid clones allowed us to define more accurately the telomeric border of the critical region between markers S226 and S213.", "output": {"entities": {"gene": [{"text": "FISH", "start": 13, "end": 17}], "disease": [{"text": "monosomy 21", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 52, "end": 70}], "disease": [{"text": "familial chylomicronemia", "start": 88, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 52, "end": 70}, "tail": {"text": "familial chylomicronemia", "start": 88, "end": 112}}]}}, "schema": []}
{"input": "Since all but one of the mutations result in premature stop codons, and since the localized nature of the lesions could be explained by Knudson' s two-hit model, GVMs are likely caused by complete loss of function of glomulin.", "output": {"entities": {"gene": [{"text": "glomulin", "start": 217, "end": 225}], "disease": [{"text": "GVM", "start": 162, "end": 165}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glomulin", "start": 217, "end": 225}, "tail": {"text": "GVM", "start": 162, "end": 165}}]}}, "schema": []}
{"input": "Surprisingly, stable cell lines expressing VEGF-A siRNAs silenced VEGF-A expression equally well in hypoxia and normoxia.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 43, "end": 49}], "disease": [{"text": "hypoxia", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "These data suggest a possible involvement of MMP-9 in MADA disease, underlying the potential use in diagnosis and therapy.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 45, "end": 50}], "disease": [{"text": "MADA", "start": 54, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 45, "end": 50}, "tail": {"text": "MADA", "start": 54, "end": 58}}]}}, "schema": []}
{"input": "NIS gene transfer was performed in vivo in human MTC cell (TT) xenografts, using adenoviral vectors carrying the NIS gene linked to the cytomegalovirus promoter (Ad5-CMV-NIS) or a CEA promoter fragment (Ad5-CEA-NIS).", "output": {"entities": {"gene": [{"text": "CEA", "start": 180, "end": 183}], "disease": [{"text": "cytomegalovirus", "start": 136, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate sex-dependent roles of NPY and PYY in regulation of anxiety-and depression-like behaviour in the absence and presence of colitis.", "output": {"entities": {"gene": [{"text": "PYY", "start": 54, "end": 57}], "disease": [{"text": "colitis", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, Hes-6 is a novel estrogen-regulated gene in breast cancer cells.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 30, "end": 53}], "disease": [{"text": "breast cancer", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.", "output": {"entities": {"gene": [{"text": "phosphoglycerate kinase 1", "start": 233, "end": 258}], "disease": [{"text": "HCC", "start": 333, "end": 336}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "phosphoglycerate kinase 1", "start": 233, "end": 258}, "tail": {"text": "HCC", "start": 333, "end": 336}}]}}, "schema": []}
{"input": "Brain-derived neurotrophic factor (BDNF) has emerged as a novel angiogenic factor, and yet its impact on tumorigenesis is unclear.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 35, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The majority of follicular lymphoma cells carry the typical chromosome translocation 14; 18, which juxtaposes the bcl-2 gene to the immunoglobulin heavy-chain (IgH) gene.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 114, "end": 124}], "disease": [{"text": "chromosome translocation", "start": 60, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The single cystic nephroma was TTF-1-negative, WT1-negative, and CD56-positive.", "output": {"entities": {"gene": [{"text": "CD56", "start": 65, "end": 69}], "disease": [{"text": "cystic nephroma", "start": 11, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Further the immunoreactivity of MKP-1 was detected in the neurons and partially co-localized with that of phospho-JNK in the surrounding zone of ischemia in rat MCA-O (middle cerebral artery occlusion) reperfusion model.", "output": {"entities": {"gene": [{"text": "MKP-1", "start": 32, "end": 37}], "disease": [{"text": "middle cerebral artery occlusion", "start": 168, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Recent observations that the deficits in social reciprocity skills seen in young (3-4-year-old) autistic children are improved after secretin infusions suggest an additional influence on neuronal activity. We show here that i. v. administration of secretin in rats induces Fos protein expression in the neurons of the central amygdala as well as the area postrema, bed nucleus of the stria terminalis, external lateral parabrachial nucleus and supraoptic nucleus.", "output": {"entities": {"gene": [{"text": "secretin", "start": 133, "end": 141}], "disease": [{"text": "autistic", "start": 96, "end": 104}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "secretin", "start": 133, "end": 141}, "tail": {"text": "autistic", "start": 96, "end": 104}}]}}, "schema": []}
{"input": "As the human securin, PTTG is involved in critical mechanisms of cell cycle regulation, whereby aberrant expression induces aneuploidy.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 22, "end": 26}], "disease": [{"text": "aneuploidy", "start": 124, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "To examine the clinical and MRI associations in bilateral periventricular nodular heterotopia (BPNH) (MIM #300049) in two families segregating a missense mutation and a C-terminal deletion of the filamin 1 (FLN1) gene.", "output": {"entities": {"gene": [{"text": "MRI", "start": 28, "end": 31}], "disease": [{"text": "bilateral periventricular nodular heterotopia", "start": 48, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "To gain insight into the role of IF proteins in podocytes, we investigated the expression of nestin, vimentin, and desmin in puromycin aminonucleoside (PAN) nephrosis.", "output": {"entities": {"gene": [{"text": "vimentin", "start": 101, "end": 109}], "disease": [{"text": "nephrosis", "start": 157, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vimentin", "start": 101, "end": 109}, "tail": {"text": "nephrosis", "start": 157, "end": 166}}]}}, "schema": []}
{"input": "While non-immunized transgenic animals demonstrated heightened levels of transcripts associated with pituitary tumorigenesis (HMG2A, E2F1, CCND1, PRL, GH, GAL, PTTG1, BMP4) and decreased levels of CDK inhibitors CDKN1B (p27), CDKN2A (p16) and CDKN2c (p18), immunization led to a reversal to levels found in non-transgenic animals.", "output": {"entities": {"gene": [{"text": "p27", "start": 220, "end": 223}], "disease": [{"text": "tumorigenesis", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "NPS-1034 inhibited the proliferation of cells expressing activated MET and promoted the regression of tumors formed from such cells in a mouse xenograft model through anti-angiogenic and pro-apoptotic actions.", "output": {"entities": {"gene": [{"text": "MET", "start": 67, "end": 70}], "disease": [{"text": "regression", "start": 88, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We found that BRCA1/2 tumors showed a higher genomic instability than BRCAX and sporadic cancers.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 14, "end": 19}], "disease": [{"text": "genomic instability", "start": 45, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigate the messenger RNA (mRNA) expression of GAPDH (glycolytic glyceraldehyde 3-phosphate dehydrogenase) and PKM2 (pyruvate kinase isoform M2), ATP5B (mitochondrial β-F1-ATPase), and heat shock protein 60 in matched serous solid tumor and corresponding ascites.", "output": {"entities": {"gene": [{"text": "GAPDH", "start": 69, "end": 74}], "disease": [{"text": "ascites", "start": 277, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "Sixty-four consecutive patients with malignant HCC (n = 20), liver metastases (n = 27), or nonmalignant (n = 17) liver diseases undergoing partial or total hepatectomy and orthotopic liver transplantation were included in this prospective study from January to July 1995.", "output": {"entities": {"gene": [{"text": "HCC", "start": 47, "end": 50}], "disease": [{"text": "liver diseases", "start": 113, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In this study, 4 cervical cancer cell lines were growth inhibited by micromolar concentrations of Flex-Hets to greater extents than RAR/RXR active retinoids.", "output": {"entities": {"gene": [{"text": "RAR", "start": 132, "end": 135}], "disease": [{"text": "cervical cancer", "start": 17, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Perturbation of epithelial-mesenchymal transition (EMT) results in loss of intracellular adhesions leading to tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 51, "end": 54}], "disease": [{"text": "tumor progression", "start": 110, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Apelin mRNA is significantly higher expressed in adipose tissue of patients with type 2 diabetes and correlates with circulating apelin, BMI, body fat, C-reactive protein, and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "apelin", "start": 129, "end": 135}], "disease": [{"text": "insulin sensitivity", "start": 176, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "We used serum starvation-refeeding experiment to explore the involvement of PIDD in HCC cell cycle regulation.", "output": {"entities": {"gene": [{"text": "HCC", "start": 84, "end": 87}], "disease": [{"text": "starvation", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Diverse expression of cytosolic phospholipase A2, 5-lipoxygenase and prostaglandin H synthase 2 in acute pre-B-lymphocytic leukaemia cells.", "output": {"entities": {"gene": [{"text": "5-lipoxygenase", "start": 50, "end": 64}], "disease": [{"text": "lymphocytic leukaemia", "start": 111, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Applying the statistical GISTIC (Genomic Identification of Significant Targets in Cancer) tool we identified potential novel candidate tumor suppressor-(DBC1, FHIT, PPP2R2A) and oncogenes (LYN, FGF19, GRB7, PTPN1) within these regions of chromosomal instability.", "output": {"entities": {"gene": [{"text": "DBC1", "start": 153, "end": 157}], "disease": [{"text": "chromosomal instability", "start": 238, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "In this review we will discuss recent progress made in the understanding of the BAFF/APRIL-TACI/BCMA/BAFF receptor system in relation to the recent discovery that mutations in human TACI cause a primary humoral immunodeficiency.", "output": {"entities": {"gene": [{"text": "APRIL", "start": 85, "end": 90}], "disease": [{"text": "humoral immunodeficiency", "start": 203, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "We selected 34 single nucleotide polymorphisms pertaining to 9 genes involved with Toll-like receptor-mediated pathogen recognition and/or regulation (LBP, CD14, TLR1, TLR2, TLR4, TLR6, MD2, CARD15 and SIGIRR) and assessed in a nested case-control study their putative association with bacterial vaginosis, as diagnosed by Gram staining, and with the vaginal carriage of A. vaginae and G. vaginalis, as determined by species-specific PCR, among 144 pregnant women.", "output": {"entities": {"gene": [{"text": "TLR1", "start": 162, "end": 166}], "disease": [{"text": "bacterial vaginosis", "start": 286, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that glucocorticoid resistance in this family is due to a point mutation in the steroid-binding domain of the glucocorticoid receptor.", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 132, "end": 155}], "disease": [{"text": "glucocorticoid resistance", "start": 27, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glucocorticoid receptor", "start": 132, "end": 155}, "tail": {"text": "glucocorticoid resistance", "start": 27, "end": 52}}]}}, "schema": []}
{"input": "We applied complex segregation and linkage analyses in a set of multigenerational families densely segregating ADHD comorbid with ODD, CD, alcohol abuse/dependence, and nicotine dependence.", "output": {"entities": {"gene": [{"text": "ODD", "start": 130, "end": 133}], "disease": [{"text": "alcohol abuse", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to investigate the association between 61 SNPs in eight CHRN genes (CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2, CHRNB3, CHRNB4) and dizziness at first inhalation.", "output": {"entities": {"gene": [{"text": "CHRNA7", "start": 132, "end": 138}], "disease": [{"text": "inhalation", "start": 187, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "This series of patients illustrates the large array of clinical presentations associated with mtDNA stability defects, ranging from isolated benign PEO to fatal Alpers syndrome.", "output": {"entities": {"gene": [{"text": "PEO", "start": 148, "end": 151}], "disease": [{"text": "Alpers syndrome", "start": 161, "end": 176}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PEO", "start": 148, "end": 151}, "tail": {"text": "Alpers syndrome", "start": 161, "end": 176}}]}}, "schema": []}
{"input": "Although numbers are small, distinctive features of these cases include a tendency to young age, the absence of association with tuberous sclerosis, predominant alveolar architecture and epithelioid cytology, minimal immunoreactivity for muscle markers, and strong (3 +) TFE3 immunoreactivity.", "output": {"entities": {"gene": [{"text": "TFE3", "start": 271, "end": 275}], "disease": [{"text": "tuberous sclerosis", "start": 129, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The aldosterone-sensitive serum-and glucocorticoid-inducible kinase SGK1 has been shown to participate in the stimulation of ENaC and to mediate renal fibrosis following mineralocorticoid and salt excess.", "output": {"entities": {"gene": [{"text": "SGK1", "start": 68, "end": 72}], "disease": [{"text": "renal fibrosis", "start": 145, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Eighteen patients (13. 4 percent), including 12 without alcoholism, had a CFTR mutation on one chromosome, as compared with a frequency of 5. 3 percent among 600 local unrelated partners of persons with a family history of cystic fibrosis (P & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "CFTR", "start": 74, "end": 78}], "disease": [{"text": "alcoholism", "start": 56, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CFTR", "start": 74, "end": 78}, "tail": {"text": "alcoholism", "start": 56, "end": 66}}]}}, "schema": []}
{"input": "To investigate the expression of p16, retinoblastoma (pRb), and cyclin D1 oncoproteins in endometriomas and adenomyosis.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 64, "end": 73}], "disease": [{"text": "adenomyosis", "start": 108, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Concurrent treatment of the glioma cell line U87-MG with siRNA 1 and temozolomide (TMZ) resulted in a 13-fold reduction in the dose of TMZ required to achieve a similar effect if TMZ was used alone.", "output": {"entities": {"gene": [{"text": "U87", "start": 45, "end": 48}], "disease": [{"text": "glioma", "start": 28, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The clinical differentiation between hereditary nonpolyposis colorectal cancer (HNPCC) and attenuated familial adenomatous polyposis (AFAP) is very difficult.", "output": {"entities": {"gene": [{"text": "AFAP", "start": 134, "end": 138}], "disease": [{"text": "hereditary nonpolyposis colorectal cancer", "start": 37, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "GRIK2", "start": 40, "end": 45}], "disease": [{"text": "colon cancer", "start": 88, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIK2", "start": 40, "end": 45}, "tail": {"text": "colon cancer", "start": 88, "end": 100}}]}}, "schema": []}
{"input": "In SCID mice with acute renal failure (ARF), SDF-1 was strongly up-regulated in resident cells surrounding necrotic areas.", "output": {"entities": {"gene": [{"text": "ARF", "start": 39, "end": 42}], "disease": [{"text": "necrotic", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "OCT revealed reduced retinal thickness, mostly in CACD, subretinal lesions, macula edema, or was normal.", "output": {"entities": {"gene": [{"text": "OCT", "start": 0, "end": 3}], "disease": [{"text": "edema", "start": 83, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "To better understand the molecular basis of the effect of BPA on human reproductive health, a genome-wide screen was performed using human foreskin fibroblast cells (hFFCs) derived from child hypospadias (HS) patients to identify novel targets of low-dose BPA exposure.", "output": {"entities": {"gene": [{"text": "BPA", "start": 58, "end": 61}], "disease": [{"text": "hypospadias", "start": 192, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The results of the present study suggest that MMP-2 and MMP-9 inhibition in the presence of COX inhibitor prevents the development of experimental diabetic neuropathy in rats and can be a potential approach for the treatment.", "output": {"entities": {"gene": [{"text": "MMP-2", "start": 46, "end": 51}], "disease": [{"text": "diabetic neuropathy", "start": 147, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-2", "start": 46, "end": 51}, "tail": {"text": "diabetic neuropathy", "start": 147, "end": 166}}]}}, "schema": []}
{"input": "Plaque suPAR levels correlated with plaque content of lipids and macrophages and with proinflammatory chemokines and cytokines monocyte chemoattractant protein 1, tumor necrosis factor α, interleukin 1β, interleukin 6, platelet-derived growth factor AB/BB, monocyte inflammatory protein 1β, regulated on activation normal T-cell expressed and secreted, and s-CD40L.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 359, "end": 364}], "disease": [{"text": "plaque", "start": 36, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In addition, we demonstrate that while stress increased NMDA NR2B-mediated synaptic transmission, known to be implicated in depression, Reelin overexpression significantly reduced it.", "output": {"entities": {"gene": [{"text": "NR2B", "start": 61, "end": 65}], "disease": [{"text": "depression", "start": 124, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR2B", "start": 61, "end": 65}, "tail": {"text": "depression", "start": 124, "end": 134}}]}}, "schema": []}
{"input": "The SCN10A SNP V1073 was, however, associated strongly with BrS [66. 9 vs. 40. 1% (UK10K) OR (95% CI) = 3. 02 (2. 35-3. 87), P = 8. 07 & #215; 10-19].", "output": {"entities": {"gene": [{"text": "SCN10A", "start": 4, "end": 10}], "disease": [{"text": "BrS", "start": 60, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN10A", "start": 4, "end": 10}, "tail": {"text": "BrS", "start": 60, "end": 63}}]}}, "schema": []}
{"input": "These results led to a second hypothesis, that TLR4, the only TLR that signals through both MyD88 and TRIF signaling pathways, contributed to inflammation during B. cereus endophthalmitis.", "output": {"entities": {"gene": [{"text": "TRIF", "start": 102, "end": 106}], "disease": [{"text": "inflammation", "start": 142, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "A novel Arg481Glu (R481Q) mutation in IGF-IR was detected in a family with intrauterine and postnatal growth retardation.", "output": {"entities": {"gene": [{"text": "IGF", "start": 38, "end": 41}], "disease": [{"text": "postnatal growth retardation", "start": 92, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Here we define a new form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) syndrome.", "output": {"entities": {"gene": [{"text": "MIRAGE", "start": 84, "end": 90}], "disease": [{"text": "myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy", "start": 92, "end": 197}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MIRAGE", "start": 84, "end": 90}, "tail": {"text": "myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy", "start": 92, "end": 197}}]}}, "schema": []}
{"input": "Heart weight to body weight ratios and mRNA levels of fetal gene markers in the heart were significantly higher in USP15-TG mice than in wild-type (WT) mice.", "output": {"entities": {"gene": [{"text": "USP15", "start": 115, "end": 120}], "disease": [{"text": "body weight", "start": 16, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Two haplotypes of the CHRNA6 (CCCC and TCGA) were associated with heavy alcohol consumption (p = 0. 004 and p = 0. 035 respectively) and with increased alcohol intake (p = 0. 004) for the CCCC haplotype compared to non-carriers of these haplotypes.", "output": {"entities": {"gene": [{"text": "CHRNA6", "start": 22, "end": 28}], "disease": [{"text": "alcohol intake", "start": 152, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "There were significant increases in HSP72 (P < 0. 001), HSP32 (P = 0. 03), GSSG (t = 9. 5, P < 0. 001) and TBARS (t = 5. 6, P = 0. 001) in response to the 5-day hypoxic intervention, whereas no significant changes were observed for GSH (P = 0. 22) and TGSH (P = 0. 25).", "output": {"entities": {"gene": [{"text": "HSP72", "start": 36, "end": 41}], "disease": [{"text": "hypoxic", "start": 161, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The TEL/AML1 translocation, which is specific for pre B-cell leukemias is predictive of a favorable treatment outcome.", "output": {"entities": {"gene": [{"text": "AML1", "start": 8, "end": 12}], "disease": [{"text": "translocation", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Fibrillin-1 (FBN1) was reported to have impact on the physiological arterial stiffness and vascular remodeling with hypertension of recent years.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 13, "end": 17}], "disease": [{"text": "arterial stiffness", "start": 68, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Brain-derived neurotrophic factor (BDNF) is a neurotrophin (NT) known to participate in chronic somatic pain.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 35, "end": 39}], "disease": [{"text": "somatic pain", "start": 96, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The regulation of extracellular signal-regulated kinase (ERK) oscillations in the context of wound healing and carcinogenesis have been investigated in premalignant and malignant JB6 mouse epidermal cells stimulated with basic fibroblast growth factor (bFGF) and 12-O-tetradecanoyl phorbol-13-acetate (TPA).", "output": {"entities": {"gene": [{"text": "ERK", "start": 57, "end": 60}], "disease": [{"text": "premalignant", "start": 152, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The clinical consequences of SALL4-SOX2 association suggest a possible functional interaction between these factors in regulation of ESCC maintenance and aggressiveness and introduce these regulators of stemness state as potentially interesting therapeutic targets to bring new opportunities for onco-therapeutic modalities.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 35, "end": 39}], "disease": [{"text": "aggressiveness", "start": 154, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Loss of KLOTHO mRNA was observed in several cervical cancer cell lines and in invasive carcinoma samples, but not during the early, preinvasive phase of primary cervical tumorigenesis.", "output": {"entities": {"gene": [{"text": "KLOTHO", "start": 8, "end": 14}], "disease": [{"text": "tumorigenesis", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "In limb ischemic mice, the local administration of pVHAVI promoted gastrocnemius mass and force recovery and ameliorated limb necrosis much better than the group treated with hypoxia-insensitive vector, even this last group had produced more VEGF in muscle.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 242, "end": 246}], "disease": [{"text": "hypoxia", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "After UV treatment or serum starvation, apoptosis was strongly enhanced in MHCC97H and Bel7402 cells transfected with small interfering RNA against NS, whereas NS overexpression inhibited UV-and serum-induced apoptosis of HCC cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 76, "end": 79}], "disease": [{"text": "starvation", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Our study shows abnormalities in the expression of 4 principal members of the E-cadherin/catenin complex in SPTs, which may help to explain the discohesive nature of the cells and the cystic changes in these tumors, and provide additional diagnostic features.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 78, "end": 88}], "disease": [{"text": "abnormalities", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether Gata6 plays a role during pancreatic tumorigenesis.", "output": {"entities": {"gene": [{"text": "Gata6", "start": 24, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Here, we report a case of CADASIL who presented with migrainous headache, behavioral disorder, and familial history of stroke and the diagnosis was established by the findings of head magnetic resonance images revealing characteristic white matter lesions and a mutation in the NOTCH 3 gene.", "output": {"entities": {"gene": [{"text": "NOTCH 3 gene", "start": 278, "end": 290}], "disease": [{"text": "behavioral disorder", "start": 74, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The varied NER genes and smoking are two important risk factors of bladder cancer, but the mechanism of the NER protein and smoking in cancer progression, however, remains unclear.", "output": {"entities": {"gene": [{"text": "NER", "start": 11, "end": 14}], "disease": [{"text": "smoking", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.", "output": {"entities": {"gene": [{"text": "TUBA1A", "start": 42, "end": 48}], "disease": [{"text": "band heterotopia", "start": 18, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "FGF17", "start": 148, "end": 153}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF17", "start": 148, "end": 153}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "To date over 20 subjects have been reported with aromatase deficiency which may manifest during fetal life with maternal virilization and virilization of the external genitalia of a female fetus due to low aromatase activity in the steroid metabolizing fetal-placental unit and thus high androgen levels.", "output": {"entities": {"gene": [{"text": "aromatase", "start": 49, "end": 58}], "disease": [{"text": "aromatase deficiency", "start": 49, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "aromatase", "start": 49, "end": 58}, "tail": {"text": "aromatase deficiency", "start": 49, "end": 69}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the association of the Thr92Ala DIO2 variant to indices of insulin resistance in the Old Order Amish.", "output": {"entities": {"gene": [{"text": "DIO2", "start": 73, "end": 77}], "disease": [{"text": "insulin resistance", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Classical lissencephaly is a disorder of neuroblast migration with most patients having mutations of either the LIS1 or DCX genes.", "output": {"entities": {"gene": [{"text": "LIS1", "start": 112, "end": 116}], "disease": [{"text": "Classical lissencephaly", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LIS1", "start": 112, "end": 116}, "tail": {"text": "Classical lissencephaly", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "The following clinical parameters were recorded at baseline and 12 months after surgery: papillary bleeding index (PBI), gingival recession (REC), probing pocket depth (PPD), clinical attachment level (CAL), and the vertical relative attachment gain (V-rAG).", "output": {"entities": {"gene": [{"text": "PBI", "start": 115, "end": 118}], "disease": [{"text": "gingival recession", "start": 121, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Here we report for the first time that ADM treated or stably transfected Ishikawa cells overexpressing ADM show increased resistance to hypoxia induced apoptosis.", "output": {"entities": {"gene": [{"text": "ADM", "start": 39, "end": 42}], "disease": [{"text": "hypoxia", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Seventy three cases of Kaposi' s sarcoma (KS) from the 3 histological subtypes (patch, plaque and nodular) were assessed for bcl-2 and p53 protein expression.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 125, "end": 130}], "disease": [{"text": "plaque", "start": 87, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Clinical relevance of many PRSS1 variants found in patients with sporadic chronic pancreatitis is unknown but often assumed by analogy with known disease-causing mutations.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 27, "end": 32}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The rate of A2 dissociation, using an optical biosensor, was determined to be fourfold faster for ARG531 (HIS) compared with FVIII WT.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 125, "end": 130}], "disease": [{"text": "dissociation", "start": 15, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The reciprocal duplication leads to dup (17) (p11. 2p11. 2) associated with the Potocki-Lupski syndrome (PLS), a neurological disorder whose features include autism.", "output": {"entities": {"gene": [{"text": "p11", "start": 46, "end": 49}], "disease": [{"text": "autism", "start": 158, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as \" Jaeken syndrome \") is an autosomal recessive disorder characterized by defective glycosylation.", "output": {"entities": {"gene": [{"text": "CDG1", "start": 53, "end": 57}], "disease": [{"text": "Jaeken syndrome", "start": 75, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDG1", "start": 53, "end": 57}, "tail": {"text": "Jaeken syndrome", "start": 75, "end": 90}}]}}, "schema": []}
{"input": "Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.", "output": {"entities": {"gene": [{"text": "methionine adenosyltransferase 1A", "start": 95, "end": 128}], "disease": [{"text": "hypermethioninemia", "start": 33, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "methionine adenosyltransferase 1A", "start": 95, "end": 128}, "tail": {"text": "hypermethioninemia", "start": 33, "end": 51}}]}}, "schema": []}
{"input": "The objective of the present study is to assess whether NBS1 mutations play a role in the pathogenesis of human primary liver cancer, including HBV-associated HCC and intrahepatic cholangiocarcinoma (ICC).", "output": {"entities": {"gene": [{"text": "NBS1", "start": 56, "end": 60}], "disease": [{"text": "primary liver cancer", "start": 112, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Here we report the genetic and functional characterization of somatic mutations affecting the chromatin remodeler CHD2, one of the most frequently mutated genes in CLL (5. 3%) and in monoclonal B lymphocytosis (MBL, 7%), a B-cell expansion that can evolve to CLL.", "output": {"entities": {"gene": [{"text": "CHD2", "start": 114, "end": 118}], "disease": [{"text": "lymphocytosis", "start": 196, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "By contrast, a significant reduction was observed in levels of glutathione synthetase (P & lt; 0. 01), glutathione-S-transferase mu2 (P & lt; 0. 01), glutathione-S-transferase p (P & lt; 0. 05), antioxidant protein 2 (P & lt; 0. 05), thioredoxin peroxidase-I (P & lt; 0. 05) and thioredoxin peroxidase-II (P & lt; 0. 01) in DS compared with controls.", "output": {"entities": {"gene": [{"text": "antioxidant protein 2", "start": 195, "end": 216}], "disease": [{"text": "DS", "start": 324, "end": 326}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "antioxidant protein 2", "start": 195, "end": 216}, "tail": {"text": "DS", "start": 324, "end": 326}}]}}, "schema": []}
{"input": "Rap1GAP is thought of as a putative tumor suppressor gene and plays an important role in human tumor progression including pancreatic cancer, thyroid cancer and melanoma.", "output": {"entities": {"gene": [{"text": "Rap1GAP", "start": 0, "end": 7}], "disease": [{"text": "thyroid cancer", "start": 142, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rap1GAP", "start": 0, "end": 7}, "tail": {"text": "thyroid cancer", "start": 142, "end": 156}}]}}, "schema": []}
{"input": "In vitro, cobalt chloride-treated VEGF induction and hypoxia responsive element (HRE) promoter activity were inhibited by IFNs and this abrogation was cancelled by introduction of small interfering RNA for STAT1.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 206, "end": 211}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "At 10-12 weeks of age, p27-/-and p27 +/+, hGHRH mice were larger than their p27 +/+ littermates and displayed characteristic hyperplasia of the IL and AL, respectively.", "output": {"entities": {"gene": [{"text": "p27", "start": 23, "end": 26}], "disease": [{"text": "hyperplasia", "start": 125, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "A novel case of Chrousos syndrome has been reported in a patient with adrenal incidentaloma, who harboured a heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor.", "output": {"entities": {"gene": [{"text": "hGR", "start": 144, "end": 147}], "disease": [{"text": "Chrousos syndrome", "start": 16, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hGR", "start": 144, "end": 147}, "tail": {"text": "Chrousos syndrome", "start": 16, "end": 33}}]}}, "schema": []}
{"input": "We found that Notch pathway components, including Jag1-2 ligands, Hes1-Hey1 targets and the intracellular domain of Notch1, were increased in hypoxia, as well as the phosphorylation levels of Erk1-2 and Akt.", "output": {"entities": {"gene": [{"text": "Jag1", "start": 50, "end": 54}], "disease": [{"text": "hypoxia", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The Thr92Ala (rs225014) polymorphism in the type 2 deiodinase (DIO2) gene has been associated with insulin resistance (IR) and decreased enzyme activity in human tissues but kinetic studies failed to detect changes in the mutant enzyme, suggesting that this variant might be a marker of abnormal DIO2 expression.", "output": {"entities": {"gene": [{"text": "DIO2", "start": 63, "end": 67}], "disease": [{"text": "insulin resistance", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "FNA cytology of SS shows a spectrum of cytomorphological features; the diagnosis is confirmed by RT-PCR on the aspirated material for the SYT-SSX fusion transcript.", "output": {"entities": {"gene": [{"text": "SYT", "start": 138, "end": 141}], "disease": [{"text": "aspirated", "start": 111, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Two new mutations that predicted amino acid substitutions with significant effects on enzyme function were detected in conserved regions of the protoporphyrinogen oxidase gene in one Aboriginal variegate porphyria patient and the possible fourth case.", "output": {"entities": {"gene": [{"text": "protoporphyrinogen oxidase", "start": 144, "end": 170}], "disease": [{"text": "variegate porphyria", "start": 194, "end": 213}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "protoporphyrinogen oxidase", "start": 144, "end": 170}, "tail": {"text": "variegate porphyria", "start": 194, "end": 213}}]}}, "schema": []}
{"input": "We report the 5-and 10-year survival rate of women diagnosed with breast cancer in the context of an annual MRI-based surveillance program.", "output": {"entities": {"gene": [{"text": "MRI", "start": 108, "end": 111}], "disease": [{"text": "breast cancer", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The result was supported by a high positivity for macroH2A1. 1 in knockout mice for genes targeted by macroH2A1 (Atp5a1 and Fam73b), that under a high-fat diet presented minimal lipidosis.", "output": {"entities": {"gene": [{"text": "Atp5a1", "start": 113, "end": 119}], "disease": [{"text": "lipidosis", "start": 178, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The translocation generated a sterile fusion transcript under the control of the PTK2 promoter, affecting expression of both PTK2 and THOC2 genes.", "output": {"entities": {"gene": [{"text": "THOC2", "start": 134, "end": 139}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The 3'-LTR mutations may upregulate syncytin-1 expression, enabling it to participate in UCC tumorigenesis and development by interacting with c-Myb.", "output": {"entities": {"gene": [{"text": "syncytin-1", "start": 36, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The result showed that PKR was reduced in tumor tissues of HCC from HBV carriers with low serum viral load (< 0. 7 x 10 (6) copies/ml) compared to those with higher serum viral load.", "output": {"entities": {"gene": [{"text": "PKR", "start": 23, "end": 26}], "disease": [{"text": "viral load", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In study, the expression patterns and functional differences between an original glioma cell population (U251 and U87) and sublines (U251-P10, U87-P10) that were selected to be migration-prone were investigated.", "output": {"entities": {"gene": [{"text": "U87", "start": 114, "end": 117}], "disease": [{"text": "glioma", "start": 81, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Altogether these results indicate that the GLP-1/GLP-1R system in AT represents another potential candidate for improving insulin sensitivity in obese patients.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 43, "end": 48}], "disease": [{"text": "insulin sensitivity", "start": 122, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "[Peculiarities of polymorphism in gene of serotonin transporter in men from different ethnic groups with acute alcoholic psychoses].", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 42, "end": 63}], "disease": [{"text": "alcoholic psychoses", "start": 111, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations in the adenomatosis polyposis coli (APC) gene cause FAP and Gardner syndrome and have recently been associated also with the development of AFAP.", "output": {"entities": {"gene": [{"text": "AFAP", "start": 159, "end": 163}], "disease": [{"text": "adenomatosis", "start": 26, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Gene transfer of antisense alphaV and beta3 expression vectors downregulated alphaV and beta3 in HepG2 tumours established in nude mice, inhibited tumour vascularization and growth, and enhanced tumour cell apoptosis.", "output": {"entities": {"gene": [{"text": "beta3", "start": 38, "end": 43}], "disease": [{"text": "vascularization", "start": 154, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.", "output": {"entities": {"gene": [{"text": "SPRED1", "start": 49, "end": 55}], "disease": [{"text": "Legius syndrome", "start": 66, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPRED1", "start": 49, "end": 55}, "tail": {"text": "Legius syndrome", "start": 66, "end": 81}}]}}, "schema": []}
{"input": "In this study, we developed and evaluated a loop-mediated isothermal amplification (LAMP) assay for differential diagnosis of infections with Taenia species with cathepsin L-like cysteine peptidase (clp) and cytochrome c oxidase subunit 1 (cox1) genes.", "output": {"entities": {"gene": [{"text": "LAMP", "start": 84, "end": 88}], "disease": [{"text": "infections", "start": 126, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether genetic variation in FTO is associated with polycystic ovary syndrome (PCOS), a condition also characterized by insulin resistance.", "output": {"entities": {"gene": [{"text": "FTO", "start": 45, "end": 48}], "disease": [{"text": "insulin resistance", "start": 136, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The expression of aromatase in JAR cells, human placental choriocarcinoma cells, was found to be induced by the treatment of phorbol 12, 13-diacetate (PDA), phorbol 12, 13-didecanoate (PDD), or phorbol 12-myristate 13-acetate (TPA), but not 4 alpha-phorbol, 12, 13-didecanoate (4 alpha PDD).", "output": {"entities": {"gene": [{"text": "TPA", "start": 227, "end": 230}], "disease": [{"text": "placental choriocarcinoma", "start": 48, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma.", "output": {"entities": {"gene": [{"text": "CDKN2A", "start": 18, "end": 24}], "disease": [{"text": "glaucoma", "start": 84, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDKN2A", "start": 18, "end": 24}, "tail": {"text": "glaucoma", "start": 84, "end": 92}}]}}, "schema": []}
{"input": "Highly increased maspin expression corresponds with up-regulation of miR-21 in endometrial cancer: a preliminary report.", "output": {"entities": {"gene": [{"text": "maspin", "start": 17, "end": 23}], "disease": [{"text": "endometrial cancer", "start": 79, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We detected two unrelated sporadic individuals with syndromic ID carrying unique overlapping duplications encompassing HUWE1.", "output": {"entities": {"gene": [{"text": "HUWE1", "start": 119, "end": 124}], "disease": [{"text": "sporadic", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We conclude that that 45% of a subgroup of children with autism suffers from low NK cell activity, and that low intracellular levels of glutathione, IL-2 and IL-15 may be responsible.", "output": {"entities": {"gene": [{"text": "IL-15", "start": 158, "end": 163}], "disease": [{"text": "autism", "start": 57, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-15", "start": 158, "end": 163}, "tail": {"text": "autism", "start": 57, "end": 63}}]}}, "schema": []}
{"input": "Cyclin D1 overexpression was observed in 26 of 47 (55%) PN hyperplasias, 3 of 4 (75%) papillomas, and 10 of 18 (56%) TCCs.", "output": {"entities": {"gene": [{"text": "Cyclin D1", "start": 0, "end": 9}], "disease": [{"text": "papillomas", "start": 86, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cyclin D1", "start": 0, "end": 9}, "tail": {"text": "papillomas", "start": 86, "end": 96}}]}}, "schema": []}
{"input": "In conclusion, the phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than ARCL2B.", "output": {"entities": {"gene": [{"text": "PYCR1", "start": 39, "end": 44}], "disease": [{"text": "geroderma osteodysplasticum", "start": 70, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PYCR1", "start": 39, "end": 44}, "tail": {"text": "geroderma osteodysplasticum", "start": 70, "end": 97}}]}}, "schema": []}
{"input": "We studied the effects of six of these 3p21. 3 genes (101F6, NPRL2, BLU, FUS1, HYAL2, and HYAL1) on tumor cell proliferation and apoptosis in human lung cancer cells by recombinant adenovirus-mediated gene transfer in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "FUS1", "start": 73, "end": 77}], "disease": [{"text": "adenovirus", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We compared the clinical, hematologic, morphologic and cytogenetic features of 18 such patients-for whose disease we propose the designation' refractory cytopenia with multilineage dysplasia' (RCMD)-to those of 42 patients meeting the FAB criteria for RA or RARS (14 patients) and RAEB (28 patients).", "output": {"entities": {"gene": [{"text": "FAB", "start": 235, "end": 238}], "disease": [{"text": "refractory cytopenia with multilineage dysplasia", "start": 142, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.", "output": {"entities": {"gene": [{"text": "GAMT", "start": 159, "end": 163}], "disease": [{"text": "body weight", "start": 54, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The characteristic DFSP-associated translocation, t (17; 22) (q22; q13), was identified in 6 patients; results of fluorescence in situ hybridization were positive for fusion of the COL1A1 and PDGFB loci in 7 patients; and RT-PCR showed the COL1A1-PDGFB fusion transcript in 6 patients.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 192, "end": 197}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The recently developed monoclonal antibody HBA 71 is specific for the product MIC2, a marker of peripheral primitive neuroectodermal tumors.", "output": {"entities": {"gene": [{"text": "HBA", "start": 43, "end": 46}], "disease": [{"text": "peripheral primitive neuroectodermal tumors", "start": 96, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In BRCA1 heterozygous clones and nontumorigenic breast epithelial tissues from BRCA mutation carriers, FISH revealed elevated genomic instability when compared with their respective controls.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 3, "end": 8}], "disease": [{"text": "genomic instability", "start": 126, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "A systematic review of the literature was performed using OvidSP and PubMed databases using keywords \" pancreatic cancer \" and individual glycolytic and mitochondrial oxidative phosphorylation (MOP) enzymes.", "output": {"entities": {"gene": [{"text": "MOP", "start": 194, "end": 197}], "disease": [{"text": "pancreatic cancer", "start": 103, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The treatment of cells with 2-deoxy-d-glucose, an inhibitor of glycolysis, reduced rRNA transcription and H3K36me2 in the rDNA promoter, both of which were completely dependent on KDM2A in low concentrations of 2-deoxy-d-glucose, that is, mild starvation conditions.", "output": {"entities": {"gene": [{"text": "KDM2A", "start": 180, "end": 185}], "disease": [{"text": "mild", "start": 239, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "We have examined the importance of primary adhalinopathies among myopathies with adhalin deficiency, and describe several additional mutations (null and missense) in the adhalin gene in 10 new families from Europe and North Africa.", "output": {"entities": {"gene": [{"text": "adhalin", "start": 43, "end": 50}], "disease": [{"text": "primary adhalinopathies", "start": 35, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "adhalin", "start": 43, "end": 50}, "tail": {"text": "primary adhalinopathies", "start": 35, "end": 58}}]}}, "schema": []}
{"input": "To comprehend the role of pyridoxal 5'-phosphate (PLP) in epilepsy or seizure, we investigated whether the expressions of two PLP synthetic enzymes (pyridoxal kinase, PLK; pyridoxine-5'-phosphate oxidase, PNPO) are altered in the hippocampus and whether changes in paired-pulse responses in the hippocampus are associated with altered PLP synthetic enzyme expressions following status epilepticus (SE).", "output": {"entities": {"gene": [{"text": "PLP", "start": 50, "end": 53}], "disease": [{"text": "seizure", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 15, "end": 32}], "disease": [{"text": "partial androgen insensitivity syndrome", "start": 100, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 15, "end": 32}, "tail": {"text": "partial androgen insensitivity syndrome", "start": 100, "end": 139}}]}}, "schema": []}
{"input": "We conclude that the presence of the Glu298Asp eNOS gene variant could be a marker of increased risk of developing placental abruption.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 47, "end": 51}], "disease": [{"text": "placental abruption", "start": 115, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "eNOS", "start": 47, "end": 51}, "tail": {"text": "placental abruption", "start": 115, "end": 134}}]}}, "schema": []}
{"input": "Rats injected with interleukin-1 (10 micrograms) and tumor necrosis factor (10 micrograms) and then exposed continuously to hyperoxia (greater than 99% O2, 1 atm) survived longer, had increased lung reduced/oxidized glutathione ratios, smaller pleural effusions, less pulmonary hypertension and improved arterial blood gases.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor", "start": 53, "end": 74}], "disease": [{"text": "pulmonary hypertension", "start": 268, "end": 290}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "tumor necrosis factor", "start": 53, "end": 74}, "tail": {"text": "pulmonary hypertension", "start": 268, "end": 290}}]}}, "schema": []}
{"input": "One hundred and twenty unselected patients who underwent curative resection for sporadic colorectal cancer in a three-year period were evaluated for microsatellite instability (MSI) using six microsatellite markers, and for the presence of Fhit and mismatch repair (MMR) proteins (Mlh1 and Msh2) by means of immunostaining.", "output": {"entities": {"gene": [{"text": "MMR", "start": 266, "end": 269}], "disease": [{"text": "microsatellite instability", "start": 149, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, PTX3 inhibits FGF/FGFR-driven EMT in melanoma cells, hampering their tumorigenic and metastatic potential.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 15, "end": 19}], "disease": [{"text": "melanoma", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We also detected the ALF DNA methylation level by real-time methylation-specific PCR (MSP) both in testes of adult, fetal and infertile patient.", "output": {"entities": {"gene": [{"text": "MSP", "start": 86, "end": 89}], "disease": [{"text": "infertile", "start": 126, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Stratified analyses indicated that a significantly decreased risk of ESCC associated with the IL17A rs4711998 A > G polymorphism was evident among younger patients and patients who never smoking or drinking.", "output": {"entities": {"gene": [{"text": "IL17A", "start": 94, "end": 99}], "disease": [{"text": "drinking", "start": 198, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "The utility of circulating angiogenic cytokines (CAC) as biomarkers in pancreatic cancer has not been clarified yet.", "output": {"entities": {"gene": [{"text": "CAC", "start": 49, "end": 52}], "disease": [{"text": "pancreatic cancer", "start": 71, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Adult female Thra1 (PV/+) mice had short stature, grossly abnormal bone morphology but normal bone strength despite high bone mass.", "output": {"entities": {"gene": [{"text": "Thra1", "start": 13, "end": 18}], "disease": [{"text": "high bone mass", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrated that the G250-specific oncolytic adenovirus expressing Ki67-siRNA is applicable for human renal clear cell cancer therapy.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 82, "end": 86}], "disease": [{"text": "adenovirus", "start": 60, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We found for the first time that the increased risk of IMI in carriers of genotype 462Ile/Val of the CYP1A1 gene occurred only in smoker men (odds ratio [OR] = 1. 91; 95% confidence interval [CI] 1. 01-3. 59), whereas nonsmoker men did not have the risk of infertility (OR = 1. 58; 95% CI 0. 66-3. 76).", "output": {"entities": {"gene": [{"text": "CYP1A1 gene", "start": 101, "end": 112}], "disease": [{"text": "infertility", "start": 257, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "The translocation resulted in deletion of exon 5 and consequently fusion of intron 4 of WDR11 to the 3' untranslated region of a novel member, ZNF320, of the Krüppel-like zinc finger gene family.", "output": {"entities": {"gene": [{"text": "WDR11", "start": 88, "end": 93}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "There are also a few studies showing that FOXO3a protected cells under stress conditions, including oxidative stress, serum deprivation, and hypoxia.", "output": {"entities": {"gene": [{"text": "FOXO3a", "start": 42, "end": 48}], "disease": [{"text": "hypoxia", "start": 141, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We recently showed that EWS/FLI interacts with GGAA-microsatellites to regulate some of its target genes, including NR0B1, an EWS/FLI-regulated gene that is required for the oncogenic phenotype of Ewing' s sarcoma.", "output": {"entities": {"gene": [{"text": "NR0B1", "start": 116, "end": 121}], "disease": [{"text": "sarcoma", "start": 206, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in several genes on the short arm of chromosome 6 (6p), among them, VEGF, FKBP5, HLA-DR and TNF-alpha, have been associated with inflammation and transplant outcome, such as acute rejection.", "output": {"entities": {"gene": [{"text": "FKBP5", "start": 88, "end": 93}], "disease": [{"text": "inflammation", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In this study, downregulation of miR-15a-16 in nonsmall cell lung cancer (NSCLC) was found to be inversely correlated with Cripto.", "output": {"entities": {"gene": [{"text": "Cripto", "start": 123, "end": 129}], "disease": [{"text": "nonsmall cell lung cancer", "start": 47, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Immunoprecipitation of the in vitro translation products from a synthetic TGase-H mRNA and from total protein of cultured erythroleukemia HEL cells revealed a protein with a molecular weight of 63, 000 by sodium dodecyl sulfate-polyacrylamide gel electrophoresis.", "output": {"entities": {"gene": [{"text": "TGase", "start": 74, "end": 79}], "disease": [{"text": "erythroleukemia", "start": 122, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "A polymorphism near the promoter region of the IGF-I gene has been associated with serum IGF-I levels, body height and birth weight.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 47, "end": 52}], "disease": [{"text": "birth weight", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The nonsense p. E61X genetic variation in the RANGRF gene has been postulated as responsible for Brugada syndrome although no clear association has been established.", "output": {"entities": {"gene": [{"text": "RANGRF", "start": 46, "end": 52}], "disease": [{"text": "Brugada syndrome", "start": 97, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RANGRF", "start": 46, "end": 52}, "tail": {"text": "Brugada syndrome", "start": 97, "end": 113}}]}}, "schema": []}
{"input": "FAK is overexpressed in most solid tumors and is involved in multiple protein-protein interactions critical for tumor cell survival, tumor neovascularization, progression and metastasis.", "output": {"entities": {"gene": [{"text": "FAK", "start": 0, "end": 3}], "disease": [{"text": "neovascularization", "start": 139, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Factor XI (FXI) deficiency leads to an injury-related bleeding diathesis, which is notable for the variability in the bleeding tendency and the lack of a clear relationship between bleeding and FXI coagulant activity.", "output": {"entities": {"gene": [{"text": "FXI", "start": 11, "end": 14}], "disease": [{"text": "bleeding", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The LAMP developed in this study is useful not only for diagnosis of but also for the assessment of MPXV infections.", "output": {"entities": {"gene": [{"text": "LAMP", "start": 4, "end": 8}], "disease": [{"text": "infections", "start": 105, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the association of Ala54 Thr polymorphism of the FABP2 gene with insulin sensitivity in pubertal girls born small for gestational age (SGA).", "output": {"entities": {"gene": [{"text": "FABP2 gene", "start": 87, "end": 97}], "disease": [{"text": "small for gestational age", "start": 146, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "By inducing cell death, SAH moved the boundary of necrosis toward the tumor edge.", "output": {"entities": {"gene": [{"text": "SAH", "start": 24, "end": 27}], "disease": [{"text": "necrosis", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the up-regulation of miR-23a and down-regulation of miR-106b in this study reflected miRNA changes previously reported in post-mortem autistic cerebellum by Abu-Elneel et al. in 2008.", "output": {"entities": {"gene": [{"text": "miR-106b", "start": 67, "end": 75}], "disease": [{"text": "autistic", "start": 149, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-106b", "start": 67, "end": 75}, "tail": {"text": "autistic", "start": 149, "end": 157}}]}}, "schema": []}
{"input": "We identified MYB-QKI fusions as a specific and single candidate driver event in angiocentric gliomas.", "output": {"entities": {"gene": [{"text": "QKI", "start": 18, "end": 21}], "disease": [{"text": "gliomas", "start": 94, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "QKI", "start": 18, "end": 21}, "tail": {"text": "gliomas", "start": 94, "end": 101}}]}}, "schema": []}
{"input": "Of these, only KLF5 mRNA was expressed at high levels in non-neoplastic breast epithelial cells and in normal human mammary tissue, but at lower levels in various breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "KLF5", "start": 15, "end": 19}], "disease": [{"text": "non-neoplastic", "start": 57, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Since the brain tissue microenvironmental niche is a prerequisite for expression of the stem cell marker CD133 antigen in brain tumors, we investigated the invasion mechanisms specific to CD133 (+) U87 glioblastoma cells in response to lysophosphatidic acid (LPA) and sphingosine 1-phosphate (S1P), two circulating bioactive lysophospholipids and potent inducers of cancer.", "output": {"entities": {"gene": [{"text": "LPA", "start": 259, "end": 262}], "disease": [{"text": "glioblastoma", "start": 202, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrate that loss of GPx3 expression by promoter hypermethylation is frequently observed in a wide spectrum of human malignancies.", "output": {"entities": {"gene": [{"text": "GPx3", "start": 43, "end": 47}], "disease": [{"text": "malignancies", "start": 139, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPx3", "start": 43, "end": 47}, "tail": {"text": "malignancies", "start": 139, "end": 151}}]}}, "schema": []}
{"input": "Here we report on a de novo g. 41022153G & gt; A; p. Ala293Thr (NM_002875) missense mutation in one allele of the homologous recombination DNA repair gene RAD51 in an FA-like patient.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 155, "end": 160}], "disease": [{"text": "FA", "start": 167, "end": 169}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAD51", "start": 155, "end": 160}, "tail": {"text": "FA", "start": 167, "end": 169}}]}}, "schema": []}
{"input": "This growth enhancement was also seen in cells transfected with the BCL-2 gene with its own promoter juxtaposed to the immunoglobulin heavy chain gene enhancer, which represents the translocated form of the BCL-2 gene observed in follicular lymphomas with the t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "BCL-2 gene", "start": 68, "end": 78}], "disease": [{"text": "translocation", "start": 271, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "This study is a brief review of the literature on FA and a report of the first molecular evidence for RDH5 gene mutation in a Polish patient with this rare disorder.", "output": {"entities": {"gene": [{"text": "RDH5", "start": 102, "end": 106}], "disease": [{"text": "FA", "start": 50, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDH5", "start": 102, "end": 106}, "tail": {"text": "FA", "start": 50, "end": 52}}]}}, "schema": []}
{"input": "Gene expression in patients with endogenous depression was similar to that in the normal controls, except for upregulation of five genes (APP, CREBBP, GNAS, PDCD2 and PDCD6).", "output": {"entities": {"gene": [{"text": "APP", "start": 138, "end": 141}], "disease": [{"text": "endogenous depression", "start": 33, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APP", "start": 138, "end": 141}, "tail": {"text": "endogenous depression", "start": 33, "end": 54}}]}}, "schema": []}
{"input": "In vitro, cobalt chloride-treated VEGF induction and hypoxia responsive element (HRE) promoter activity were inhibited by IFNs and this abrogation was cancelled by introduction of small interfering RNA for STAT1.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 34, "end": 38}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "However, the oncogenic potential of RPS14 is not understood in leukemia and high-risk myelodysplastic syndrome (MDS).", "output": {"entities": {"gene": [{"text": "RPS14", "start": 36, "end": 41}], "disease": [{"text": "leukemia", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Shiga toxin (Stx)-producing Escherichia coli (STEC) from patients with hemolytic-uremic syndrome (HUS), patients with diarrhea without HUS, or asymptomatic subjects were genotyped to assess associations between stx2 variants and clinical manifestations of infection.", "output": {"entities": {"gene": [{"text": "stx2", "start": 211, "end": 215}], "disease": [{"text": "asymptomatic", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain.", "output": {"entities": {"gene": [{"text": "COX", "start": 208, "end": 211}], "disease": [{"text": "encephalopathy, chronic", "start": 101, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Though MMR deficiency alone appears to be insufficient for malignant transformation, it leads to measurable microsatellite instability even in single MMR-deficient crypts.", "output": {"entities": {"gene": [{"text": "MMR", "start": 7, "end": 10}], "disease": [{"text": "microsatellite instability", "start": 108, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The (8; 21) translocation between the AML1 and ETO genes is seen in approximately 12-15% of all acute myeloid leukemia (AML) and is a frequently observed nonrandom genetic alteration associated with AML.", "output": {"entities": {"gene": [{"text": "AML1", "start": 38, "end": 42}], "disease": [{"text": "translocation", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis revealed that 66/66 (100%) RER positive carcinomas were associated with complete lack of expression of either hMSH2 or hMLH1.", "output": {"entities": {"gene": [{"text": "RER", "start": 56, "end": 59}], "disease": [{"text": "carcinomas", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Bcl-2 immunoexpression increased from the patch stage (36%) to the plaque stage (45%) to the nodular stage (70. 83%).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 0, "end": 5}], "disease": [{"text": "plaque", "start": 67, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In addition, the AFP expression-and hypoxia-dependent in vitro cytotoxicity of Ad-HRE (6)/hAFPΔ19 and Ad-HRE (12)/hAFPΔ19 was determined by 3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide assay and cytopathic effect assay.", "output": {"entities": {"gene": [{"text": "AFP", "start": 17, "end": 20}], "disease": [{"text": "hypoxia", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Although aging is closely related with the onset of senile systemic amyloidosis (SSA) caused by wild-type transthyretin (TTR), the effect of aging on amyloid formation has remained unclear in familial amyloidotic polyneuropathy (FAP), caused by variant-and wild-type TTR.", "output": {"entities": {"gene": [{"text": "SSA", "start": 81, "end": 84}], "disease": [{"text": "polyneuropathy", "start": 213, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The frequency of LB-E12 (MB1, DC1, MT1) showed a significant increase in lepromatous leprosy patients (p = 0. 04).", "output": {"entities": {"gene": [{"text": "E12", "start": 20, "end": 23}], "disease": [{"text": "lepromatous leprosy", "start": 73, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Similarly, injury-induced vascular remodeling in apoE (-/-) mice was associated with early and transient ESDN upregulation, in parallel with cell proliferation.", "output": {"entities": {"gene": [{"text": "ESDN", "start": 105, "end": 109}], "disease": [{"text": "vascular remodeling", "start": 26, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "In contrast to findings suggested by animal studies, we found significant decrease in hypoxic responsiveness but not in hypercapnic responsiveness in narcoleptics, and further analysis indicated that decreased ventilatory responses to hypoxia in human narcolepsy-cataplexy is in relation to HLA-DQB1 * 0602 status, not hypocretin deficiency.", "output": {"entities": {"gene": [{"text": "hypocretin", "start": 319, "end": 329}], "disease": [{"text": "hypoxia", "start": 235, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "One of the three peptides was found to induce EGFRvIII-specific CTLs as demonstrated by IFN-gamma production and cytotoxicity against HLA-A0201 + EGFRvIII transfected U87 glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 167, "end": 170}], "disease": [{"text": "glioma", "start": 171, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "While other neurotransmitters have also been implicated, to date the only molecular genetic defect which has been found to associate with alcoholism, drug dependency, obesity, smoking, pathological gambling, attention-deficit-hyperactivity disorder (ADHD), Tourette syndrome, as well as other related compulsive behaviours, are the variants of the dopamine D2 receptor gene (DRD2).", "output": {"entities": {"gene": [{"text": "DRD2", "start": 375, "end": 379}], "disease": [{"text": "smoking", "start": 176, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "The genes analyzed included RARbeta (methylated in 20%), p16 (18%), CACNA1G (16%), TIMP-3 (11%), E-cad (7%), THBS1 (7%), hMLH1 (4%), DAP kinase (2%), and MGMT (0%).", "output": {"entities": {"gene": [{"text": "CACNA1G", "start": 68, "end": 75}], "disease": [{"text": "cad", "start": 99, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Inhalation of IL-5 significantly decreased CD34 (+)/IL-5Ralpha mRNA (+) cells within the bronchial mucosa and the percentage of CD34 (+) cells that were CCR3 (+) within the bone marrow of atopic asthmatic, but not control, volunteers.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 153, "end": 157}], "disease": [{"text": "atopic", "start": 188, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "After potassium supplementation, plasma potassium, renin, aldosterone or AII, and the relationship between AII and aldosterone levels increased significantly, while body weight, plasma catecholamines, the chronotropic effects of isoproterenol, AII or NE, the pressor effects of AII and plasma clearance of AII or NE were unchanged in all groups.", "output": {"entities": {"gene": [{"text": "AII", "start": 73, "end": 76}], "disease": [{"text": "body weight", "start": 165, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The expression of N-myc down-regulated gene 1 (NDRG1) has previously been reported to be involved in the proliferation, differentiation, invasion and metastasis of cancer cells, but its role in cervical cancer is still unclear.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 18, "end": 23}], "disease": [{"text": "cervical cancer", "start": 194, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "The prevalence and development of microsatellite instability (MSI) and underlying mismatch repair (MMR) deficiency in the carcinogenesis of adenocarcinomas of the papilla of Vater and their precursor lesions are not well established.", "output": {"entities": {"gene": [{"text": "MMR", "start": 99, "end": 102}], "disease": [{"text": "microsatellite instability", "start": 34, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutations on the tyrosine hydroxylase gene.", "output": {"entities": {"gene": [{"text": "tyrosine hydroxylase", "start": 75, "end": 95}], "disease": [{"text": "tyrosine hydroxylase deficiency", "start": 75, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tyrosine hydroxylase", "start": 75, "end": 95}, "tail": {"text": "tyrosine hydroxylase deficiency", "start": 75, "end": 106}}]}}, "schema": []}
{"input": "These data contribute to the expanding database of ABCC6 mutations, to the description of phenotypic variability, and inheritance in PXE, and should be helpful for genetic counselling.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 51, "end": 56}], "disease": [{"text": "PXE", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 51, "end": 56}, "tail": {"text": "PXE", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "It has been reported that p27 knockout mice develop multiorgan hyperplasia and intermediate lobe pituitary tumors secreting ACTH.", "output": {"entities": {"gene": [{"text": "p27", "start": 26, "end": 29}], "disease": [{"text": "hyperplasia", "start": 63, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Primary aldosteronism (PA) is the most common endocrine form of secondary hypertension, and one of the most common subtypes of sporadic PA is aldosterone-producing adenoma (APA).", "output": {"entities": {"gene": [{"text": "APA", "start": 173, "end": 176}], "disease": [{"text": "secondary hypertension", "start": 64, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The results obtained with the SHBG-C57BL/ksJ-db/db mouse model have allowed us to determine that the SHBG overexpression in the C57BL/ksJ-db/db reduced the body weight gain but did not change the metabolic profile of these mice.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 30, "end": 34}], "disease": [{"text": "body weight gain", "start": 156, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of PKCdelta by rottlerin or knockdown of TG2 protein by a TG2-specific siRNA resulted in a marked increase in autophagy shown by presence of autophagic vacuoles in the cytoplasm, formation of the acidic vesicular organelles, membrane association of microtubule-associated protein 1 light chain 3 (LC3) with autophagosomes, and a marked induction of LC3-II protein, important hallmarks of autophagy, and by electron microscopy.", "output": {"entities": {"gene": [{"text": "LC3", "start": 308, "end": 311}], "disease": [{"text": "autophagic vacuoles", "start": 152, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Mutations in GJB6 cause hidrotic ectodermal dysplasia.", "output": {"entities": {"gene": [{"text": "GJB6", "start": 13, "end": 17}], "disease": [{"text": "hidrotic ectodermal dysplasia", "start": 24, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJB6", "start": 13, "end": 17}, "tail": {"text": "hidrotic ectodermal dysplasia", "start": 24, "end": 53}}]}}, "schema": []}
{"input": "Our goal was to investigate whether genetic variation in TNF and LTA is associated with asthma and atopy and whether the association is modified by parental smoking in a Mexican population with high ozone exposure.", "output": {"entities": {"gene": [{"text": "TNF", "start": 57, "end": 60}], "disease": [{"text": "atopy", "start": 99, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In addition to established tumors, NQO1 gene expression is also increased in developing tumors, indicating a role in cellular defense during tumorigenesis.", "output": {"entities": {"gene": [{"text": "NQO1 gene", "start": 35, "end": 44}], "disease": [{"text": "tumorigenesis", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "SPOP (Speckle-type POZ protein) maps to the 17q21-22 candidate linkage region and is one of the most frequently mutated genes in sporadic prostate cancers.", "output": {"entities": {"gene": [{"text": "SPOP", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation in the L1CAM gene, and to look for genotype-phenotype correlations in the X-linked recessive disorder, L1 syndrome.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 154, "end": 159}], "disease": [{"text": "L1 syndrome", "start": 250, "end": 261}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L1CAM", "start": 154, "end": 159}, "tail": {"text": "L1 syndrome", "start": 250, "end": 261}}]}}, "schema": []}
{"input": "Patients (n = 112) from 285 families who were counseled between 1990 and 2005 at a clinic for patients at high risk for HNPCC were selected for screening to detect mutations in MMR genes MLH1, MSH2, MSH6, and PMS2 based on family history, microsatellite instability (MSI), and immunohistochemical analysis of MMR protein expression.", "output": {"entities": {"gene": [{"text": "MMR", "start": 177, "end": 180}], "disease": [{"text": "microsatellite instability", "start": 239, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "ABCG2 34G > A was statistically associated with occurrence of skin rash; 13 (42%) of the 32 patients with at least one variant ABCG2 34G > A allele (G/A and A/A) developed grade 2 or worse skin rash, whereas only 10 (19%) of 51 patients homozygous for the reference allele (G/G) for the wild-type sequence for both alleles did so (P = 0. 046).", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 0, "end": 5}], "disease": [{"text": "skin rash", "start": 62, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The transwell migration assay revealed that both IQGAP1 and RhoC stimulated the migration activity of the gastric cancer cell line AGS.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 60, "end": 64}], "disease": [{"text": "gastric cancer", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "In vivo, down-regulation of CCR10 significantly impairs growth of glioma.", "output": {"entities": {"gene": [{"text": "CCR10", "start": 28, "end": 33}], "disease": [{"text": "glioma", "start": 66, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Three-base deletion mutation c. 120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.", "output": {"entities": {"gene": [{"text": "ATP2A2", "start": 49, "end": 55}], "disease": [{"text": "Darier disease", "start": 99, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2A2", "start": 49, "end": 55}, "tail": {"text": "Darier disease", "start": 99, "end": 113}}]}}, "schema": []}
{"input": "Motor neurons expressing BICD2-N showed accumulation of dynein and dynactin in the cell body, Golgi fragmentation and several signs of impaired retrograde trafficking: the appearance of giant neurofilament swellings in the proximal axon, reduced retrograde labelling by tracer injected in the muscle and delayed expression of the injury transcription factor ATF3 after axon transection.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 358, "end": 362}], "disease": [{"text": "giant", "start": 186, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Tubular proteinuria was assessed by measuring urinary retinol-binding protein (RBP), beta2-microglobulin (beta2M), alpha1-microglobulin (alpha1M), and albumin in 138 patients: 26 affected males and 24 female carriers of the X-linked syndrome \" Dent' s disease, \" 6 patients with other Fanconi syndromes, 17 with distal renal tubular acidosis (dRTA), 39 with glomerulonephritis (GN), and 26 with Chinese herbs nephropathy (CHN).", "output": {"entities": {"gene": [{"text": "RBP", "start": 79, "end": 82}], "disease": [{"text": "distal renal tubular acidosis", "start": 312, "end": 341}]}, "relations": {}}, "schema": []}
{"input": "However, in contrast to the MSC (GFP) group, the MSC (Ang1) group showed enhanced angiogenesis and arteriogenesis (by 11-35%), infarction area was reduced by 30% and the left ventricular wall was 46% thicker (P < 0. 05).", "output": {"entities": {"gene": [{"text": "MSC", "start": 28, "end": 31}], "disease": [{"text": "infarction", "start": 127, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "βG was tethered on the plasma membrane of three different human cancer cell lines: human colon carcinoma (LS174T), lung adenocarcinoma (CL1-5) and bladder carcinoma (EJ).", "output": {"entities": {"gene": [{"text": "CL1", "start": 136, "end": 139}], "disease": [{"text": "lung adenocarcinoma", "start": 115, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrated how the cleaved intracellular domain of CD44 (CD44ICD) activates stemness factors such as Nanog, Sox2 and Oct4, and contributes to the tumorigenesis of breast cancer.", "output": {"entities": {"gene": [{"text": "Sox2", "start": 128, "end": 132}], "disease": [{"text": "tumorigenesis", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "adenomatosis polyposis coli, E-cadherin, catenin, EphB2, fibronectin-1, HTATIP2, tissue inhibitor of metalloprotease-4) were down-regulated by up to 90%, while genes involved in enhancement of metastatic behavior (integrin a7b1, hepatocyte growth factor receptor, transforming growth factor-beta1, VEGF, kisspeptin, interleukin-1beta) were dramatically up-regulated above 200%.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 29, "end": 39}], "disease": [{"text": "adenomatosis", "start": 0, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "By analogy with data obtained from previously characterized fusion genes involving FGFR1 and BCR/ABL, it is likely that the oligomerization domain contributed by BCR is critical and that its dimerizing properties lead to aberrant FGFR1 signaling and neoplastic transformation.", "output": {"entities": {"gene": [{"text": "BCR", "start": 93, "end": 96}], "disease": [{"text": "neoplastic transformation", "start": 250, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "We conclude that miR-30e, miR-181b, miR-34a, miR-346 and miR-7 combined as a panel are potentially useful non-invasive biomarkers for schizophrenia diagnosis.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 57, "end": 62}], "disease": [{"text": "schizophrenia", "start": 134, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-7", "start": 57, "end": 62}, "tail": {"text": "schizophrenia", "start": 134, "end": 147}}]}}, "schema": []}
{"input": "Our data do not support a role for polymorphisms of the GSTM1 and GSTT1 genes in the pathogenesis of pre-eclampsia, eclampsia and HELLP syndrome.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 56, "end": 61}], "disease": [{"text": "pre-eclampsia", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "A relapsed leukemia patient displayed microsatellite instability, but no genetic and epigenetic alterations in key MMR genes were identifiable.", "output": {"entities": {"gene": [{"text": "MMR", "start": 115, "end": 118}], "disease": [{"text": "microsatellite instability", "start": 38, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Some tumors, initially arising as intestinal-type (glandular structure), acquire a mixed histotype during neoplastic progression, in which both the typical alterations of the intestinal cancerogenesis (p53, microsatellite instability) and those of the diffuse carcinoma (E-cadherin) coexist.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 271, "end": 281}], "disease": [{"text": "microsatellite instability", "start": 207, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Interindividual heterogeneity in the hypoxic regulation of VEGF: significance for the development of the coronary artery collateral circulation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 59, "end": 63}], "disease": [{"text": "hypoxic", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "However, areas of little inflammation which were characterized by severe fibrosis also revealed high levels of CTGF mRNA.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 111, "end": 115}], "disease": [{"text": "inflammation", "start": 25, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Gene cloning and DNA analysis showed that the condition is a new type of beta 0-thalassemia caused by a nonsense mutation (GAG----TAG) in codon 90 of the beta-globin gene.", "output": {"entities": {"gene": [{"text": "TAG", "start": 130, "end": 133}], "disease": [{"text": "thalassemia", "start": 80, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The apoAI mRNA level was statistically significantly correlated to the placental weight, fetal birth weight, IGF-I and IGF-IR mRNA levels.", "output": {"entities": {"gene": [{"text": "IGF", "start": 109, "end": 112}], "disease": [{"text": "birth weight", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Thus changes in K2P mRNA levels occurred during inflammation and for 4 K2P channels were associated with spontaneous pain behaviour (SFL).", "output": {"entities": {"gene": [{"text": "SFL", "start": 133, "end": 136}], "disease": [{"text": "inflammation", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the intense expression of MnSOD in the mitochondria of mesothelioma cells does not appear be associated with any major chromosomal alterations or the polymorphism of MnSOD gene.", "output": {"entities": {"gene": [{"text": "MnSOD", "start": 37, "end": 42}], "disease": [{"text": "mesothelioma", "start": 66, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MnSOD", "start": 37, "end": 42}, "tail": {"text": "mesothelioma", "start": 66, "end": 78}}]}}, "schema": []}
{"input": "Most likely the thyroid defect of the two homozygous SLC26A4 gene mutation carriers represents a kind of secondary thyroid atrophy, rather than a primary defect of thyroid development in the sense of thyroid agenesis.", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 53, "end": 60}], "disease": [{"text": "thyroid agenesis", "start": 200, "end": 216}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC26A4", "start": 53, "end": 60}, "tail": {"text": "thyroid agenesis", "start": 200, "end": 216}}]}}, "schema": []}
{"input": "The results indicate that there exists possible interrelation between TH and TPH gene expression and epigenetic histone acetylation in CUS-induced depressive rats, which at least partly contributes to the etiology of depression.", "output": {"entities": {"gene": [{"text": "TH", "start": 70, "end": 72}], "disease": [{"text": "depression", "start": 217, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TH", "start": 70, "end": 72}, "tail": {"text": "depression", "start": 217, "end": 227}}]}}, "schema": []}
{"input": "This study was aimed at evaluating the combined effect of DIO2 T92A and PPARgamma2 P12A polymorphisms on insulin resistance-related features in 590 non-diabetic whites.", "output": {"entities": {"gene": [{"text": "DIO2", "start": 58, "end": 62}], "disease": [{"text": "insulin resistance", "start": 105, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "All of the results presented here suggest that genomic instability, the MMR system, and hyper-methylation of the H19 DMR1 may be correlated with the occurrence of NTDs.", "output": {"entities": {"gene": [{"text": "H19", "start": 113, "end": 116}], "disease": [{"text": "genomic instability", "start": 47, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Peripartum cardiomyopathy: analysis of clinical outcome, left ventricular function, plasma levels of cytokines and Fas/APO-1.", "output": {"entities": {"gene": [{"text": "APO-1", "start": 119, "end": 124}], "disease": [{"text": "cardiomyopathy", "start": 11, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APO-1", "start": 119, "end": 124}, "tail": {"text": "cardiomyopathy", "start": 11, "end": 25}}]}}, "schema": []}
{"input": "The location of several alcohol dehydrogenase genes in a cluster on chromosome 4 lends further support to ADH genes being candidates for this disorder, because recently a form of autosomal-dominant parkinsonism has been mapped to this area.", "output": {"entities": {"gene": [{"text": "ADH", "start": 106, "end": 109}], "disease": [{"text": "parkinsonism", "start": 198, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Expression of the bcl-2 proto-oncogene on chromosome 18 is deregulated by the 14; 18 chromosomal translocation, an abnormality that is consistently associated with follicular non-Hodgkin' s lymphomas (NHL).", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 18, "end": 23}], "disease": [{"text": "chromosomal translocation", "start": 85, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the effects of L-arginine (L-Arg) on neurological function, histopathology, and expression of hypoxia-inducible factor-1 alpha (HIF-1alpha) following spinal cord ischemia in rats, and the interaction between therapy with the nitric oxide donor L-Arg and up-regulation of the expression of HIF-1alpha.", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 169, "end": 179}], "disease": [{"text": "spinal cord ischemia", "start": 191, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "These data indicate a loss of catalase activity in most hepatitis livers but also peroxisomal proliferation and shape modifications.", "output": {"entities": {"gene": [{"text": "catalase", "start": 30, "end": 38}], "disease": [{"text": "hepatitis", "start": 56, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "catalase", "start": 30, "end": 38}, "tail": {"text": "hepatitis", "start": 56, "end": 65}}]}}, "schema": []}
{"input": "Patients with normal ventricles or evidence of infarction in the distant past had no detectable levels of either VEGF mRNA or HIF-1alpha mRNA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 113, "end": 117}], "disease": [{"text": "infarction", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Following intramuscular or intravenous injection with the pcDNA-KLK1 vector, systolic pressure of SHR was significantly decreased, which lasted for 20 d to two months depending on dose, route and/or time of injection.", "output": {"entities": {"gene": [{"text": "KLK1", "start": 64, "end": 68}], "disease": [{"text": "systolic pressure", "start": 77, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Several ADCNM features were present in RW-DNM2 mice: fiber atrophy, nuclear mislocalization, and altered mitochondrial staining, with a corresponding reduction in specific maximal muscle force.", "output": {"entities": {"gene": [{"text": "DNM2", "start": 42, "end": 46}], "disease": [{"text": "atrophy", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "To investigate the spectrum and mechanism of Ngb' s neuroprotective action, we studied the effect of transgenic overexpression of Ngb on NMDA and beta-amyloid (Abeta) toxicity in murine cortical neuron cultures in vitro and on the phenotype of Alzheimer' s disease (AD) transgenic (APP (Sw, Ind)) mice.", "output": {"entities": {"gene": [{"text": "Ngb' s", "start": 45, "end": 51}], "disease": [{"text": "amyloid", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The promoter activity of the VEGF gene, which contains five SP-1 binding sites and one AP-1 binding site but not hypoxia regulatory elements, was enhanced by bFGF or TNF-alpha but not by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 29, "end": 33}], "disease": [{"text": "hypoxia", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggested that CFL1 and N-WASP may play an important role in the tumorigenesis of ESCC, and to be the candidate novel biomarkers for the diagnosis and prognosis of ESCC.", "output": {"entities": {"gene": [{"text": "CFL1", "start": 28, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Functional evaluations of edema and pain behavior, histology, and HIF-1alpha, iNOS, and MMP3 immunohistochemistry were performed before, after the first injection, three injections, and on the follow-up injection of the treatments.", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 66, "end": 76}], "disease": [{"text": "edema", "start": 26, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The natural dietary compound pterostilbene has an anti-proliferative effect and induces apoptosis in breast cancer cells in & #160; vitro via Bax activation and overexpression, resulting in increased MnSOD, Smac/DIABLO, and cytochrome C activity and cytosolic Ca (2 +) overload.", "output": {"entities": {"gene": [{"text": "Bax", "start": 142, "end": 145}], "disease": [{"text": "breast cancer", "start": 101, "end": 114}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Bax", "start": 142, "end": 145}, "tail": {"text": "breast cancer", "start": 101, "end": 114}}]}}, "schema": []}
{"input": "The disease is also associated with growth retardation, congenital malformations, a predisposition for malignant disease and heterozygous mutations in either of the ribosomal protein (RP) genes RPS7, RPS17, RPS19, RPS24, RPL5, RPL11 and RPL35a.", "output": {"entities": {"gene": [{"text": "RPL11", "start": 227, "end": 232}], "disease": [{"text": "growth retardation", "start": 36, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "By affecting EMT and MET processes, microRNAs are involved in the regulation of stem cell pluripotency and the control of tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 13, "end": 16}], "disease": [{"text": "tumor progression", "start": 122, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We show here that heterozygous deletion of the 5' part of the ITPR1 gene, encompassing exons 1-10, 1-40, and 1-44 in three studied families, underlies SCA15 in humans.", "output": {"entities": {"gene": [{"text": "ITPR1", "start": 62, "end": 67}], "disease": [{"text": "SCA15", "start": 151, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITPR1", "start": 62, "end": 67}, "tail": {"text": "SCA15", "start": 151, "end": 156}}]}}, "schema": []}
{"input": "We here performed a genome-wide association study (GWAS) of 178 KD patients to identify the genetic loci that influence 10 important KD laboratory markers: WBC count, neutrophil count, platelet count, CRP, ESR, hemoglobin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), albumin, and total protein.", "output": {"entities": {"gene": [{"text": "AST", "start": 251, "end": 254}], "disease": [{"text": "hemoglobin", "start": 211, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "In patients treated with an angiotensin receptor blocker, expression of CD14 and CD68 in carotid plaque and serum levels of inflammatory markers were lower than in untreated patients.", "output": {"entities": {"gene": [{"text": "CD14", "start": 72, "end": 76}], "disease": [{"text": "plaque", "start": 97, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Global ischemia was induced in 3-and 18-month-old male Sprague-Dawley rats and CA1 and CA3 hippocampal areas, dentate gyrus and cerebral cortex of sham-operated and I/R animals were removed 48 h after insult.", "output": {"entities": {"gene": [{"text": "CA3", "start": 87, "end": 90}], "disease": [{"text": "ischemia", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Nicotine induces the up-regulation of the α7-nicotinic receptor (α7-nAChR) in human squamous cell lung cancer cells via the Sp1/GATA protein pathway.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 124, "end": 127}], "disease": [{"text": "squamous cell lung cancer", "start": 84, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "A rare PRSS1 mutation in a Turkish family with hereditary chronic pancreatitis.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 7, "end": 12}], "disease": [{"text": "hereditary chronic pancreatitis", "start": 47, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRSS1", "start": 7, "end": 12}, "tail": {"text": "hereditary chronic pancreatitis", "start": 47, "end": 78}}]}}, "schema": []}
{"input": "Our study objective was to investigate the association between atopy and two described di-allelic polymorphisms in the TNF locus: a G to A transition at position-308 in the 5'-promoter region of the TNFA gene (TNFA * 1 and TNFA * 2 alleles) and an Ncol restriction fragment length polymorphism (RFLP) in the first intron of the TNFB gene (TNFB * 1 and TNFB * 2 alleles).", "output": {"entities": {"gene": [{"text": "TNFA", "start": 199, "end": 203}], "disease": [{"text": "atopy", "start": 63, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.", "output": {"entities": {"gene": [{"text": "SOS1", "start": 18, "end": 22}], "disease": [{"text": "hereditary gingival fibromatosis", "start": 35, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOS1", "start": 18, "end": 22}, "tail": {"text": "hereditary gingival fibromatosis", "start": 35, "end": 67}}]}}, "schema": []}
{"input": "Genotype tagSNPs in the AKT1 and AKTIP in LOD patients and controls.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 24, "end": 28}], "disease": [{"text": "LOD", "start": 42, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKT1", "start": 24, "end": 28}, "tail": {"text": "LOD", "start": 42, "end": 45}}]}}, "schema": []}
{"input": "To determine whether FABP5 is essential for EGFR-induced mammary tumor growth, we interbred FABP5-null mice with MMTV-ErbB2/HER2 oncomice, which spontaneously develop mammary tumors.", "output": {"entities": {"gene": [{"text": "FABP5", "start": 21, "end": 26}], "disease": [{"text": "mammary tumor", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "This work identifies a new aberrant role for the epigenetic regulator BAZ2A, which can also serve as a useful marker for metastatic potential in prostate cancer.", "output": {"entities": {"gene": [{"text": "BAZ2A", "start": 70, "end": 75}], "disease": [{"text": "prostate cancer", "start": 145, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAZ2A", "start": 70, "end": 75}, "tail": {"text": "prostate cancer", "start": 145, "end": 160}}]}}, "schema": []}
{"input": "Promoter methylation of each of these genes occurred in approximately 30% of bladder cancers, and both RASSF1A and PRSS3 promoter methylation were associated with advanced tumor stage (P & lt; 0. 001 and P & lt; 0. 04, respectively).", "output": {"entities": {"gene": [{"text": "PRSS3", "start": 115, "end": 120}], "disease": [{"text": "bladder cancers", "start": 77, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRSS3", "start": 115, "end": 120}, "tail": {"text": "bladder cancers", "start": 77, "end": 92}}]}}, "schema": []}
{"input": "Alterations of c-myc, N-myc, and c-fos were detected in osteosarcomas and giant cell tumors.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 22, "end": 27}], "disease": [{"text": "giant cell tumors", "start": 74, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Heritability of the severity of diabetic retinopathy: the FIND-Eye study.", "output": {"entities": {"gene": [{"text": "FIND", "start": 58, "end": 62}], "disease": [{"text": "diabetic retinopathy", "start": 32, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Mice submitted to unilateral ureteral ligation (UUO) demonstrated an increase in macrophage infiltration with collagen deposition after 7 d. Conversely, TLR2, TLR4 and MyD88 knockout (KO) mice had an improved renal function together with diminished T (H) 2 cytokine production and decreased fibrosis formation.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 153, "end": 157}], "disease": [{"text": "fibrosis", "start": 291, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Similarly, TGF-beta cell expression was significantly increased in the infarct area of the immunized rats in comparison to the control group (22. 6 +/-5. 1 and 7 +/-2. 1 per 100 mononuclear inflammatory cells, respectively; P =. 01).", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 11, "end": 19}], "disease": [{"text": "infarct", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Most Fbw7 substrates are strongly associated with tumorigenesis and Fbw7 can either suppress or promote tumor development in mouse models.", "output": {"entities": {"gene": [{"text": "Fbw7", "start": 5, "end": 9}], "disease": [{"text": "tumorigenesis", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Constitutive and intense expression of pS2 was revealed by Western blot analyses and immunohistochemistry in human colorectal tumors and their adjacent control mucosa during the neoplastic progression, from the adenoma to the liver metastases.", "output": {"entities": {"gene": [{"text": "pS2", "start": 39, "end": 42}], "disease": [{"text": "neoplastic progression", "start": 178, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "The Del/Ins polymorphism in the 3' UTR of LEPR was associated with body weight.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 42, "end": 46}], "disease": [{"text": "body weight", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A.", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 93, "end": 98}], "disease": [{"text": "JP", "start": 26, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMAD4", "start": 93, "end": 98}, "tail": {"text": "JP", "start": 26, "end": 28}}]}}, "schema": []}
{"input": "Here we report for the first time that downregulation of the Wnt inhibitory factor 1 (WIF1) is a widespread event in salivary gland carcinoma ex-pleomorphic adenoma (CaExPA).", "output": {"entities": {"gene": [{"text": "WIF1", "start": 86, "end": 90}], "disease": [{"text": "salivary gland carcinoma", "start": 117, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The 22285 C-22375-22375 del (Cd) haplotype of CAV1 gene was associated with low levels of blood pressure in the general population.", "output": {"entities": {"gene": [{"text": "CAV1 gene", "start": 46, "end": 55}], "disease": [{"text": "blood pressure", "start": 90, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Variations at the LEPR locus could be involved in the regulation of body weight.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 18, "end": 22}], "disease": [{"text": "body weight", "start": 68, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Collagen-induced arthritis (CIA) is an experimental animal model of human rheumatoid arthritis being characterized by synovitis and progressive destruction of cartilage and bone.", "output": {"entities": {"gene": [{"text": "CIA", "start": 28, "end": 31}], "disease": [{"text": "synovitis", "start": 118, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In summary, these results not only indicate that RKTG has an in vivo tumor suppressor function to cooperate with p53 in tumorigenesis but also suggest that p53 has an EMT checkpoint function and the loss of this function can combine with loss of RKTG to drive EMT and tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 167, "end": 170}], "disease": [{"text": "tumor progression", "start": 268, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in severity from mild to perinatal lethal.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 40, "end": 45}], "disease": [{"text": "metatropic dysplasia", "start": 118, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPV4", "start": 40, "end": 45}, "tail": {"text": "metatropic dysplasia", "start": 118, "end": 138}}]}}, "schema": []}
{"input": "In the absence of TLR4 signalling the infected host instead develops an asymptomatic carrier state.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 18, "end": 22}], "disease": [{"text": "asymptomatic", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "To determine the prevalence of GB virus-C (GBV-C) RNA and TT virus (TTV) DNA in patients with systemic sclerosis (SSc), rheumatoid arthritis (RA), and osteoarthritis (OA) as well as to compare the autoantibody pattern in patients with SSc with and without evidence of viral infection.", "output": {"entities": {"gene": [{"text": "TTV", "start": 68, "end": 71}], "disease": [{"text": "viral infection", "start": 268, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "IL-4 is also involved in lipid metabolism by inhibiting lipid accumulation in fat tissues, which lead to decreased weight gain and fat mass.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "weight gain", "start": 115, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Compared with normoxia, an ischemia reperfusion insult increased expressions of proinflammatory cytokines, γH2AX, and GADD153 in association with increased cell death.", "output": {"entities": {"gene": [{"text": "GADD153", "start": 118, "end": 125}], "disease": [{"text": "ischemia", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "This family was found to be completely linked to markers mapped to 16q24. 3 and thereby proposed to be allelic to the distichiasis-lymphedema syndrome (DL, MIM 153400), although pterygium colli, congenital heart disease, or facial dysmorphism were not features found here.", "output": {"entities": {"gene": [{"text": "MIM", "start": 156, "end": 159}], "disease": [{"text": "facial dysmorphism", "start": 224, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "ERG, AR and NKX3-1 protein expression was detected in a minority of prostatic small cell carcinoma cases (23, 27 and 18%, respectively), while these markers were positive in the majority of concurrent acinar carcinoma cases (66, 83 and 83%, respectively).", "output": {"entities": {"gene": [{"text": "NKX3-1", "start": 12, "end": 18}], "disease": [{"text": "acinar carcinoma", "start": 201, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "It was suggested that PST could be a promising melanoma tumor-targeting nanovector, and have a good potential in clinical application.", "output": {"entities": {"gene": [{"text": "PST", "start": 22, "end": 25}], "disease": [{"text": "melanoma", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Most females with MECP2 mutations fulfil the established clinical criteria for Rett syndrome, but single cases of asymptomatic carriers have been described.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 18, "end": 23}], "disease": [{"text": "asymptomatic", "start": 114, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Outcomes of cardiovascular procedures, such as angioplasty and stent or bypass grafting are limited by failure, predominantly caused by pathological smooth muscle cell (SMC) proliferation, known as intimal hyperplasia.", "output": {"entities": {"gene": [{"text": "SMC", "start": 169, "end": 172}], "disease": [{"text": "intimal hyperplasia", "start": 198, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "When GSTO genotype was analysed in association with smoking or professional exposure to ultraviolet irradiation, carriers of at least one mutant GSTO2 * Asp allele had increased risk of cataract development in comparison with individuals with wild-type GSTO2 * Asn/Asn with no history of smoking or ultraviolet exposure (odds ratio = 6. 89, 95% confidence interval = 1. 81-16. 21, P = 0. 005; odds ratio = 4. 10, 95% confidence interval = 1. 23-13. 74, P = 0. 022, respectively).", "output": {"entities": {"gene": [{"text": "GSTO2", "start": 145, "end": 150}], "disease": [{"text": "smoking", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the genes that encode microtubule-associated protein tau (MAPT) and progranulin (PGRN) can manifest as symmetrical parkinsonism, including the phenotypes of Richardson syndrome and corticobasal syndrome (CBS).", "output": {"entities": {"gene": [{"text": "CBS", "start": 217, "end": 220}], "disease": [{"text": "parkinsonism", "start": 128, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "An scl gene product lacking the transactivation domain induces bony abnormalities and cooperates with LMO1 to generate T-cell malignancies in transgenic mice.", "output": {"entities": {"gene": [{"text": "LMO1", "start": 102, "end": 106}], "disease": [{"text": "abnormalities", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.", "output": {"entities": {"gene": [{"text": "CEP57", "start": 13, "end": 18}], "disease": [{"text": "mosaic variegated aneuploidy syndrome", "start": 25, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CEP57", "start": 13, "end": 18}, "tail": {"text": "mosaic variegated aneuploidy syndrome", "start": 25, "end": 62}}]}}, "schema": []}
{"input": "The direct intratracheal instillation of PGD2 enhanced the eosinophilic inflammation in OVA-exposed animals, whereas pretreatment with a dual antagonist against the PGD2 receptor-(CRTH2) and the thromboxane A2 receptor, but not with a thromboxane A2 receptor-specific antagonist, nearly completely eliminated the dsRNA-induced worsening of airway inflammation and bronchial hyperresponsiveness.", "output": {"entities": {"gene": [{"text": "thromboxane A2 receptor", "start": 195, "end": 218}], "disease": [{"text": "inflammation", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Characterization of the 415G & gt; A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.", "output": {"entities": {"gene": [{"text": "PMM2", "start": 45, "end": 49}], "disease": [{"text": "carbohydrate-deficient glycoprotein syndrome type Ia", "start": 62, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMM2", "start": 45, "end": 49}, "tail": {"text": "carbohydrate-deficient glycoprotein syndrome type Ia", "start": 62, "end": 114}}]}}, "schema": []}
{"input": "Current treatment options for severe asthma are inadequate and therapeutic antibody-mediated depletion of CRTh2-expressing cells represents a promising new therapeutic strategy.", "output": {"entities": {"gene": [{"text": "CRTh2", "start": 106, "end": 111}], "disease": [{"text": "asthma", "start": 37, "end": 43}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CRTh2", "start": 106, "end": 111}, "tail": {"text": "asthma", "start": 37, "end": 43}}]}}, "schema": []}
{"input": "Moreover, the deterioration of both systolic and diastolic functions, in conjunction with thin left ventricular remodeling at 7 days after myocardial infarction, was prevented by endothelial nitric oxide synthase.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 179, "end": 212}], "disease": [{"text": "left ventricular remodeling", "start": 95, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.", "output": {"entities": {"gene": [{"text": "Phosphomannomutase 2", "start": 94, "end": 114}], "disease": [{"text": "Polycystic Kidney Disease", "start": 0, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Phosphomannomutase 2", "start": 94, "end": 114}, "tail": {"text": "Polycystic Kidney Disease", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "], S100A12, and S100B) expression was investigated by immunostaining of 99 paraffin-embedded biopsies of sarcoid tissues, and expression patterns were determined.", "output": {"entities": {"gene": [{"text": "S100A12", "start": 3, "end": 10}], "disease": [{"text": "sarcoid", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Receptor-mediated endocytosis of tissue-type plasminogen activator by low density lipoprotein receptor-related protein on human hepatoma HepG2 cells.", "output": {"entities": {"gene": [{"text": "lipoprotein receptor-related protein", "start": 82, "end": 118}], "disease": [{"text": "hepatoma", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In 140 patients with primary squamous cell carcinoma (SCC) of the tongue, intratumoural TS expression was evaluated by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "TS", "start": 88, "end": 90}], "disease": [{"text": "squamous cell carcinoma", "start": 29, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TS", "start": 88, "end": 90}, "tail": {"text": "squamous cell carcinoma", "start": 29, "end": 52}}]}}, "schema": []}
{"input": "Curcumin also blocked hypoxia-stimulated angiogenesis in vitro and down-regulated HIF-1alpha and VEGF expression in vascular endothelial cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 97, "end": 101}], "disease": [{"text": "hypoxia", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "This study examined telomere biology in heart/muscle-specific manganese superoxide dismutase-deficient mice (H/M-SOD2 (-/-)), which develop progressive congestive heart failure and exhibit pathology typical of dilated cardiomyopathy.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 113, "end": 117}], "disease": [{"text": "congestive heart failure", "start": 152, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD2", "start": 113, "end": 117}, "tail": {"text": "congestive heart failure", "start": 152, "end": 176}}]}}, "schema": []}
{"input": "In this study, 1, 424 patients with HBV-related liver diseases not treated with antiviral drugs, including 197 asymptomatic HBV carriers, 769 chronic hepatitis B patients, 145 acute-on-chronic liver failure (ACLF) patients, 187 HBV-related liver cirrhosis patients, and 126 HBV-related HCC patients, were selected to investigate the distribution and clinical significance of spontaneous YMDD mutations in liver diseases at different stages.", "output": {"entities": {"gene": [{"text": "HCC", "start": 286, "end": 289}], "disease": [{"text": "liver diseases", "start": 48, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "A peptide of SPARC interferes with the interaction between caspase8 and Bcl2 to resensitize chemoresistant tumors and enhance their regression in vivo.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 13, "end": 18}], "disease": [{"text": "regression", "start": 132, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "If hypoxia continued for 2 more wk after L-NIL treatment was discontinued, PAP was still lower than in untreated hypoxic controls.", "output": {"entities": {"gene": [{"text": "PAP", "start": 75, "end": 78}], "disease": [{"text": "hypoxic", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "SNPs in CD1A and CD1E were not associated with GBS susceptibility, specific clinical subgroups, anti-ganglioside antibodies, antecedent infections and prognosis.", "output": {"entities": {"gene": [{"text": "CD1E", "start": 17, "end": 21}], "disease": [{"text": "infections", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Role of beta3-adrenoceptors for intrahepatic resistance and portal hypertension in liver cirrhosis.", "output": {"entities": {"gene": [{"text": "beta3", "start": 8, "end": 13}], "disease": [{"text": "portal hypertension", "start": 60, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "These results reinforce the importance of molecular genetic analysis for VP diagnosis and especially the usefulness of prokaryotic expression of missense mutations to assess their deleterious effect on PPOX activity. MM and BXG contributed equally to the publication. RES and MVR share senior authorship.", "output": {"entities": {"gene": [{"text": "PPOX", "start": 202, "end": 206}], "disease": [{"text": "VP", "start": 73, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PPOX", "start": 202, "end": 206}, "tail": {"text": "VP", "start": 73, "end": 75}}]}}, "schema": []}
{"input": "Disruption of both FANCC and Ku70 suppresses sensitivity to cross-linking agents, diminishes chromosome breaks, and reverses defective homologous recombination.", "output": {"entities": {"gene": [{"text": "Ku70", "start": 29, "end": 33}], "disease": [{"text": "chromosome breaks", "start": 93, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "To determine whether macrophage migration inhibitory factor (MIF) and monocyte chemoattractant protein-1 (MCP-1) levels in patients with hepatitis B (HB) are different than in normal individuals and whether the HB surface antigen (HBs Ag) level and viral load are correlated with each other and with the two aforementioned parameters.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 106, "end": 111}], "disease": [{"text": "viral load", "start": 249, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Functional role of Calcium-stimulated adenylyl cyclase 8 in adaptations to psychological stressors in the mouse: implications for mood disorders.", "output": {"entities": {"gene": [{"text": "adenylyl cyclase 8", "start": 38, "end": 56}], "disease": [{"text": "mood disorders", "start": 130, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "adenylyl cyclase 8", "start": 38, "end": 56}, "tail": {"text": "mood disorders", "start": 130, "end": 144}}]}}, "schema": []}
{"input": "For rectal tumors, a combination of the 3 most stable genes (GUSB, ACTB, and RPLPO) was suitable for qRT-PCR, whereas for colon tumors, a combination of the 4 most stable genes (GAPDH, ACTB, GUSB, and RPLPO) was optimal for qRT-PCR.", "output": {"entities": {"gene": [{"text": "ACTB", "start": 67, "end": 71}], "disease": [{"text": "rectal tumors", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "For the cohort of genetic generalised epilepsy, we noted a single signal at 2p16. 1 (p = 9 · 99 × 10 (-9)), implicating VRK2 or FANCL.", "output": {"entities": {"gene": [{"text": "VRK2", "start": 120, "end": 124}], "disease": [{"text": "generalised epilepsy", "start": 26, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "When levels of the four isoforms in the tumor cells were compared to levels in the normal cells, no increase was observed in PKC-alpha or PKC-gamma, but PKC-epsilon was elevated three to 30 times in six of the eight tumors, and PKC-zeta was elevated approximately two times in all of the tumors.", "output": {"entities": {"gene": [{"text": "PKC-gamma", "start": 138, "end": 147}], "disease": [{"text": "tumors", "start": 216, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "In summary, missense mutations within the exons of the androgen receptor gene encoding the steroid-binding domain of the receptor are common causes of both partial and complete forms of androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 55, "end": 72}], "disease": [{"text": "androgen insensitivity syndrome", "start": 186, "end": 217}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 55, "end": 72}, "tail": {"text": "androgen insensitivity syndrome", "start": 186, "end": 217}}]}}, "schema": []}
{"input": "Individuals being homozygous for the T allele of rs11669332 (an Akt2 promoter) showed lower systolic blood pressure (p = 0. 04), total/HDL cholesterol ratio (p = 0. 02) and the metabolic syndrome score (p = 0. 04), while carriers of the A allele of rs969531 (in 5'-UTR) showed higher systolic blood pressure (p = 0. 027).", "output": {"entities": {"gene": [{"text": "Akt2", "start": 64, "end": 68}], "disease": [{"text": "systolic blood pressure", "start": 92, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Seven ADCA (SCA1, 2, 3, 6, 7, 17, and dentatorubro-pallido-luysian atrophy) are caused by repeat expansions in the corresponding proteins; phenotype-genotype correlations have shown that repeat size influences the progression of the disease, its severity and clinical differences among patients, including the phenomenon of anticipation between generations.", "output": {"entities": {"gene": [{"text": "ADCA", "start": 6, "end": 10}], "disease": [{"text": "atrophy", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Here, we report a case of t-ALL with t (11; 19) (q23; p13. 3) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer.", "output": {"entities": {"gene": [{"text": "p13", "start": 54, "end": 57}], "disease": [{"text": "breast cancer", "start": 262, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.", "output": {"entities": {"gene": [{"text": "NF--L", "start": 188, "end": 193}], "disease": [{"text": "schizophrenia", "start": 141, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NF--L", "start": 188, "end": 193}, "tail": {"text": "schizophrenia", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "Newborn rat pups were randomly exposed to normoxia or hyperoxia at 90% FiO2 and injected intraperitoneally with placebo or Mesd every other day for 14 d. On day 15, phosphorylation of LRP5/6 (pLRP5/6), expression of Wnt/β-catenin target genes, cyclin D1 and Wnt-induced signaling protein-1 (WISP-1), right-ventricular systolic pressure (RVSP), right-ventricular hypertrophy (RVH), pulmonary vascular remodeling, alveolarization, and vascularization were measured.", "output": {"entities": {"gene": [{"text": "WISP-1", "start": 291, "end": 297}], "disease": [{"text": "vascular remodeling", "start": 391, "end": 410}]}, "relations": {}}, "schema": []}
{"input": "Successful imaging of experimental brain tumors with this system is demonstrated in nude rats bearing cerebral implants of human U87 glioma.", "output": {"entities": {"gene": [{"text": "U87", "start": 129, "end": 132}], "disease": [{"text": "glioma", "start": 133, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to compare the important and relevant features of two most commonly used PC cell lines, LNCaP and PC3, with prostatic adenocarcinoma and SCNC.", "output": {"entities": {"gene": [{"text": "PC3", "start": 128, "end": 131}], "disease": [{"text": "prostatic adenocarcinoma", "start": 138, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "In NMI bladder cancer cell lines, FGFR3 expression was induced by hypoxia in a transcriptional and HIF-1α-dependent manner.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 34, "end": 39}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.", "output": {"entities": {"gene": [{"text": "nephrocystin-3", "start": 8, "end": 22}], "disease": [{"text": "renal-hepatic-pancreatic dysplasia", "start": 112, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "nephrocystin-3", "start": 8, "end": 22}, "tail": {"text": "renal-hepatic-pancreatic dysplasia", "start": 112, "end": 146}}]}}, "schema": []}
{"input": "The whole heart weight, the left ventricular weight, the abnormal myocardial architecture, and TUNEL-positive apoptotic cells, as well as the activity of cardiac Fas-dependent and mitochondrial-dependent apoptotic pathway, were significantly increased in obese group or nocturnal sustained hypoxia group and were further increased when obesity and nocturnal sustained hypoxia coexisted, the evidence for which is based on decreases in an anti-apoptotic protein Bcl2 level and Bid and increases in Fas, FADD, pro-apoptotic Bad, BNIP3, cytosolic cytochrome c, activated caspase-8, activated caspase-9, and activated caspase-3.", "output": {"entities": {"gene": [{"text": "Bcl2", "start": 461, "end": 465}], "disease": [{"text": "weight", "start": 16, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "PRDM5 methylation was frequently detected by methylation-specific PCR (MSP) in multiple primary tumors, including 93% (43/46) nasopharyngeal, 58% (25/43) esophageal, 88% (37/42) gastric and 63% (29/46) hepatocellular tumors.", "output": {"entities": {"gene": [{"text": "MSP", "start": 71, "end": 74}], "disease": [{"text": "esophageal", "start": 154, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Further prospective studies should be recommended to confirm the observed association, and underlying mechanism should be investigated to clarify the association of FTO gene polymorphism with overweight/obesity.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 165, "end": 173}], "disease": [{"text": "overweight", "start": 192, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Homozygosity for mutations in ABC transporter A1 (ABCA1) causes Tangier disease, a rare HDL-deficiency syndrome.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 50, "end": 55}], "disease": [{"text": "Tangier disease", "start": 64, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA1", "start": 50, "end": 55}, "tail": {"text": "Tangier disease", "start": 64, "end": 79}}]}}, "schema": []}
{"input": "We asked whether chorioamnionitis-associated antenatal inflammation would regulate TGF-beta1, the TGF-beta1 signaling pathway, and CTGF in preterm lamb lungs.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 131, "end": 135}], "disease": [{"text": "inflammation", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Solution hybridization RNAase protection assays showed that renal IGF-1 mRNA, IGF-1 receptor (IGF-1R) mRNA, and IGF-binding protein-1 (IGFBP-1) mRNA were unaffected by exogenous IGF-1, but this treatment significantly increased renal IGF-1 in ARF rats compared with normal rats and ARF rats not receiving IGF-1.", "output": {"entities": {"gene": [{"text": "IGF-1", "start": 66, "end": 71}], "disease": [{"text": "ARF", "start": 243, "end": 246}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGF-1", "start": 66, "end": 71}, "tail": {"text": "ARF", "start": 243, "end": 246}}]}}, "schema": []}
{"input": "A novel mutation of KIT gene results in piebaldism in a Chinese family.", "output": {"entities": {"gene": [{"text": "KIT", "start": 20, "end": 23}], "disease": [{"text": "piebaldism", "start": 40, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIT", "start": 20, "end": 23}, "tail": {"text": "piebaldism", "start": 40, "end": 50}}]}}, "schema": []}
{"input": "The consequent overexpression of Igf2 results in most of the symptoms of Beckwith-Wiedemann syndrome, including prenatal overgrowth, polyhydramnios, fetal and neonatal lethality, disproportionate organ overgrowth including tongue enlargement, and skeletal abnormalities.", "output": {"entities": {"gene": [{"text": "Igf2", "start": 33, "end": 37}], "disease": [{"text": "polyhydramnios", "start": 133, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Igf2", "start": 33, "end": 37}, "tail": {"text": "polyhydramnios", "start": 133, "end": 147}}]}}, "schema": []}
{"input": "We used RT-QPCR and Western blots to quantify expression of HM74A and HM74 receptors in brain tissue obtained postmortem from patients with schizophrenia (N = 12) or bipolar disorder (N = 14) and from normal controls (N = 14).", "output": {"entities": {"gene": [{"text": "HM74", "start": 60, "end": 64}], "disease": [{"text": "bipolar disorder", "start": 166, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HM74", "start": 60, "end": 64}, "tail": {"text": "bipolar disorder", "start": 166, "end": 182}}]}}, "schema": []}
{"input": "Hypoxia-inducible factor 1 (HIF-1) is a transcriptional activator of vascular endothelial growth factor (VEGF) and is critical for initiating early cellular responses to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 105, "end": 109}], "disease": [{"text": "hypoxia", "start": 170, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Our experiments suggest that PHB/DNAJC19 membrane domains regulate cardiolipin remodeling by tafazzin and explain similar clinical symptoms in two inherited cardiomyopathies by an impaired cardiolipin metabolism in mitochondrial membranes.", "output": {"entities": {"gene": [{"text": "PHB", "start": 29, "end": 32}], "disease": [{"text": "cardiomyopathies", "start": 157, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We recently showed that VEGF promoter activity is inversely correlated with tumor extracellular pH (pH (o)) in vivo in the human glioma (U87 MG) xenografts.", "output": {"entities": {"gene": [{"text": "U87", "start": 137, "end": 140}], "disease": [{"text": "glioma", "start": 129, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "MMR-deficient CRC lesions show high-level microsatellite instability (MSI-H) and accumulate numerous mutations located at coding microsatellite loci that lead to the generation of immunogenic neopeptides.", "output": {"entities": {"gene": [{"text": "MMR", "start": 0, "end": 3}], "disease": [{"text": "microsatellite instability", "start": 42, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Cardiac beta 1-adrenergic receptor density was decreased while its dissociation constant (Kd) was not altered in the viable tissue of the left ventricle of the CHF rat, which is consistent with beta-adrenergic receptor downregulation.", "output": {"entities": {"gene": [{"text": "beta-adrenergic receptor", "start": 194, "end": 218}], "disease": [{"text": "dissociation", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In addition, ALK, CASC4, and SEMA5A were strongly associated with alcohol dependence (p & lt; 2 & #160; & #215; & #160; 10 (-5)) in the meta-analysis.", "output": {"entities": {"gene": [{"text": "SEMA5A", "start": 29, "end": 35}], "disease": [{"text": "alcohol dependence", "start": 66, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEMA5A", "start": 29, "end": 35}, "tail": {"text": "alcohol dependence", "start": 66, "end": 84}}]}}, "schema": []}
{"input": "Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.", "output": {"entities": {"gene": [{"text": "OCRL1", "start": 92, "end": 97}], "disease": [{"text": "lowe oculocerebrorenal syndrome", "start": 36, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCRL1", "start": 92, "end": 97}, "tail": {"text": "lowe oculocerebrorenal syndrome", "start": 36, "end": 67}}]}}, "schema": []}
{"input": "A Thr92Ala polymorphism in the gene encoding D2 (DIO2) has been reported to associate with insulin resistance.", "output": {"entities": {"gene": [{"text": "DIO2", "start": 49, "end": 53}], "disease": [{"text": "insulin resistance", "start": 91, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 62, "end": 80}], "disease": [{"text": "familial chylomicronemia", "start": 19, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 62, "end": 80}, "tail": {"text": "familial chylomicronemia", "start": 19, "end": 43}}]}}, "schema": []}
{"input": "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.", "output": {"entities": {"gene": [{"text": "CACNB4", "start": 79, "end": 85}], "disease": [{"text": "episodic ataxia", "start": 139, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CACNB4", "start": 79, "end": 85}, "tail": {"text": "episodic ataxia", "start": 139, "end": 154}}]}}, "schema": []}
{"input": "In protocol 2, ACE genotypes as well as microalbuminuria and renal hemodynamic parameters were investigated in 75 patients with EH with normal renal function and a strong family history of hypertension.", "output": {"entities": {"gene": [{"text": "ACE", "start": 15, "end": 18}], "disease": [{"text": "microalbuminuria", "start": 40, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the ARs of two unrelated patients with this category (termed' receptor-positive type') of AIS.", "output": {"entities": {"gene": [{"text": "AR", "start": 21, "end": 23}], "disease": [{"text": "AIS", "start": 107, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AR", "start": 21, "end": 23}, "tail": {"text": "AIS", "start": 107, "end": 110}}]}}, "schema": []}
{"input": "COX-2 and mPGES-1 remained elevated during the late phase, and PGE (2) continued to further increase through 24 h. The cytosolic PGE (2) synthase (cPGES) showed a small transient increase during the early phase, whereas mPGES-2 expression was not affected by inflammation.", "output": {"entities": {"gene": [{"text": "cPGES", "start": 147, "end": 152}], "disease": [{"text": "inflammation", "start": 259, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "Gene level disturbances in cellular and molecular networks impacted by alcohol and alcoholism pathology include transketolase (TKT), transferrin (TF), and myelin (e. g., MBP, MOBP, and MOG).", "output": {"entities": {"gene": [{"text": "MOG", "start": 185, "end": 188}], "disease": [{"text": "alcoholism", "start": 83, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MOG", "start": 185, "end": 188}, "tail": {"text": "alcoholism", "start": 83, "end": 93}}]}}, "schema": []}
{"input": "Here we apply the integrative genomics principles to interrogate relationships between structural features and gene expression patterns of disease-linked SNPs, microRNAs and mRNAs of protein-coding genes in association to phenotypes of 15 major human disorders, namely bipolar disease (BD); rheumatoid arthritis (RA); coronary artery disease (CAD); Crohn' s disease (CD); type 1 diabetes (T1D); type 2 diabetes (T2D); hypertension (HT); ankylosing spondylitis (AS); Graves' disease (autoimmune thyroid disease; AITD); multiple sclerosis (MS); breast cancer (BC); prostate cancer (PC); systemic lupus erythematosus (SLE); vitiligo-associated multiple autoimmune disease (VIT); and ulcerative colitis (UC).", "output": {"entities": {"gene": [{"text": "VIT", "start": 670, "end": 673}], "disease": [{"text": "breast cancer", "start": 543, "end": 556}]}, "relations": {}}, "schema": []}
{"input": "To the best of our knowledge, hypoxia-and VEGF-induced pathological angiogenesis in promoting tumor dissemination, invasion, and metastasis has not been described perviously at the single cell level.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 42, "end": 46}], "disease": [{"text": "hypoxia", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Among the cytochrome P450s (CYPs) involved in ATRA metabolism, the ATRA-inducible cytochrome P450 26A1 (CYP26A1) is particularly active although the molecular mechanisms involved in its regulation are not well defined in the target leukemia cells.", "output": {"entities": {"gene": [{"text": "CYP26A1", "start": 104, "end": 111}], "disease": [{"text": "leukemia", "start": 232, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 42, "end": 47}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We found that Wwox KO mice suffered from severe metabolic defect (s) resulting in growth retardation and all mice died by 3 wk of age.", "output": {"entities": {"gene": [{"text": "Wwox", "start": 14, "end": 18}], "disease": [{"text": "growth retardation", "start": 82, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Our data, for the first time, reports dysregulation of GR, MR, FKBP5, and PTGES3 in ASD and suggest a possible role of inflammation in altered GR function in ASD.", "output": {"entities": {"gene": [{"text": "FKBP5", "start": 63, "end": 68}], "disease": [{"text": "inflammation", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Since the heritability factor underlying drug dependence is shared between different drugs of abuse, we here examine the association between single nucleotide polymorphisms (SNPs) and haplotypes in the GHRL and GHSR, and amphetamine dependence.", "output": {"entities": {"gene": [{"text": "GHSR", "start": 211, "end": 215}], "disease": [{"text": "amphetamine dependence", "start": 221, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "In response to external stress cues and cellular mechanisms to inhibit further growth, AEG-1/MTDH/LYRIC activates pathways that bypass cell checkpoints and potentiates signals to enhance survival and tumorigenesis.", "output": {"entities": {"gene": [{"text": "LYRIC", "start": 98, "end": 103}], "disease": [{"text": "tumorigenesis", "start": 200, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "In 276 stroke cases, depression was diagnosed using DSM-IV, and classified into major PSD (N = 29), all (major plus minor) PSD (N = 77), and control (N = 199) groups.", "output": {"entities": {"gene": [{"text": "PSD", "start": 86, "end": 89}], "disease": [{"text": "stroke", "start": 7, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Computed tomography and magnetic resonance imaging (MRI) were used to examine three male siblings with nephrogenic diabetes insipidus (NDI).", "output": {"entities": {"gene": [{"text": "MRI", "start": 52, "end": 55}], "disease": [{"text": "nephrogenic diabetes insipidus", "start": 103, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results show that IL-10 is a key cytokine for inducing the expression of LIFR and IL-11R and possibly another uncharacterized OM coreceptor on myeloma cells and that OM and IL-10 might be produced by myeloma cells.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 95, "end": 99}], "disease": [{"text": "myeloma", "start": 165, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome.", "output": {"entities": {"gene": [{"text": "IFT140", "start": 83, "end": 89}], "disease": [{"text": "Jeune syndrome", "start": 168, "end": 182}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT140", "start": 83, "end": 89}, "tail": {"text": "Jeune syndrome", "start": 168, "end": 182}}]}}, "schema": []}
{"input": "Thus, FISH analysis with probes containing the D9S126 or p16 locus could be used as molecular markers to assay sputum samples for premalignant cells exfoliated from the bronchial epithelium.", "output": {"entities": {"gene": [{"text": "FISH", "start": 6, "end": 10}], "disease": [{"text": "premalignant", "start": 130, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Thirty caucasian patients suffering from classic erosive rheumatoid arthritis (RA), with a condition persisting for more than 8 years, were examined together with 67 healthy control subjects with regard to associations to HLA-DR and HLA-B-CREG antigens (B5-, B8-, B12-, B16-and B27-CREG).", "output": {"entities": {"gene": [{"text": "B27", "start": 278, "end": 281}], "disease": [{"text": "rheumatoid arthritis", "start": 57, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Using the STAM NASH-HCC mouse model, we find that HGF-induced FRA1 activation is associated with the fibrosis-dependent development of HCC.", "output": {"entities": {"gene": [{"text": "FRA1", "start": 62, "end": 66}], "disease": [{"text": "fibrosis", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Along with skeletal findings, HPP patients may present with hypercalcemia, seizures, pseudotumor cerebri, and pulmonary insufficiency.", "output": {"entities": {"gene": [{"text": "HPP", "start": 30, "end": 33}], "disease": [{"text": "pseudotumor cerebri", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our results not only uncover a novel mechanism underlying LMP1-mediated Cdc42 activation, namely LMP1 interaction with FGD4, but also functionally link FGD4 to NPC tumorigenesis.", "output": {"entities": {"gene": [{"text": "FGD4", "start": 133, "end": 137}], "disease": [{"text": "tumorigenesis", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Astrocyte elevated gene-1 (AEG-1) is associated with tumorigenesis and progression in diverse human cancers.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 27, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "High levels of dietary soy decrease mammary tumor latency and increase incidence in MTB-IGFIR transgenic mice.", "output": {"entities": {"gene": [{"text": "MTB", "start": 84, "end": 87}], "disease": [{"text": "mammary tumor", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In summary, our results indicate that the neuroprotective role of UCP2 in neurodegeneration is disease-specific and that, while a mild uncoupling by UCP2 in brain mitochondria may protect against neurodegeneration in some injury paradigms, the mitochondrial damage and the disease caused by mutant SOD1 cannot be ameliorated by UCP2 overexpression.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 66, "end": 70}], "disease": [{"text": "mild", "start": 130, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "RUNX2 increased endogenous TAZ translocation to the nucleus, which was prevented by inhibiting RUNX2.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 27, "end": 30}], "disease": [{"text": "translocation", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Multivariate regression analysis showed that the left ventricular mass index calculated by M-mode echocardiography was associated with serum creatinine (p = 0. 040), male gender (p = 0. 027), antihypertensive drug treatment (p = 0. 026), weight gain between hemodialysis (p = 0. 018) and mean blood pressure after hemodialysis (p = 0. 010), but not with ACE I/D genotype (p = 0. 69).", "output": {"entities": {"gene": [{"text": "ACE", "start": 354, "end": 357}], "disease": [{"text": "mean blood pressure", "start": 288, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "TAR-DNA-binding protein 43 (TDP-43), encoded by the TARDBP gene on chromosome 1p36. 22, has been identified as the major pathological protein in abnormal inclusions in neurons and glial cells in sporadic amyotrophic lateral sclerosis (SALS), SOD1-negative familial ALS (FALS) and frontotemporal lobar dementia (FTLD).", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 4, "end": 23}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 204, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "We collected blood samples from 109 patients with bronchial asthma, with or without attacks, and measured serum eosinophil cationic protein levels, pulmonary function, and serum CRP levels using an hs-CRP assay.", "output": {"entities": {"gene": [{"text": "CRP", "start": 178, "end": 181}], "disease": [{"text": "pulmonary function", "start": 148, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Mutation in MYH7B causes a classical LVNC phenotype, whereas mutation in ITGA7 causes CFTD.", "output": {"entities": {"gene": [{"text": "ITGA7", "start": 73, "end": 78}], "disease": [{"text": "CFTD", "start": 86, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGA7", "start": 73, "end": 78}, "tail": {"text": "CFTD", "start": 86, "end": 90}}]}}, "schema": []}
{"input": "We observed an association of INT4 polymorphism with paucibacillary type of leprosy (p = 0. 032, 1df, OR = 2. 975, CI = 1. 057-8. 373), but not to multibacillary type (p = 0. 173, 1df, OR = 2. 248, CI = 0. 682-7. 404).", "output": {"entities": {"gene": [{"text": "INT4", "start": 30, "end": 34}], "disease": [{"text": "leprosy", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The aims of this study were to determine the feasibility of detecting and isolating circulating tumor cells (CTCs) in HCC patients using enrichment for epithelial cell adhesion molecule (EpCAM) expression, to examine their prognostic value, and to explore CTC-based DNA sequencing in metastatic HCC patients compared to a control cohort with non-malignant liver diseases (NMLD).", "output": {"entities": {"gene": [{"text": "HCC", "start": 118, "end": 121}], "disease": [{"text": "liver diseases", "start": 356, "end": 370}]}, "relations": {}}, "schema": []}
{"input": "The cDNA for human Ec-SOD was incorporated into a replication-deficient adenovirus (Ad5/CMV/Ec-SOD).", "output": {"entities": {"gene": [{"text": "Ec-SOD", "start": 19, "end": 25}], "disease": [{"text": "adenovirus", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes.", "output": {"entities": {"gene": [{"text": "RAD23B", "start": 127, "end": 133}], "disease": [{"text": "alcohol consumption", "start": 50, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "To clarify which gene alteration, chromosome aberration, or point mutation preferentially occurs in radiation-associated adult-onset papillary thyroid cancer, we have performed molecular analyses on RET/PTC rearrangements and BRAF (V600E) mutation in 71 papillary thyroid cancer cases among atomic bomb survivors (including 21 cases not exposed to atomic bomb radiation), in relation to radiation dose as well as time elapsed since atomic bomb radiation exposure.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 226, "end": 230}], "disease": [{"text": "chromosome aberration", "start": 34, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Since the disease is frequently associated with liver insufficiency, which affects plasma levels of TAFI, we studied the role of variation in the TAFI gene in SVT.", "output": {"entities": {"gene": [{"text": "TAFI", "start": 100, "end": 104}], "disease": [{"text": "liver insufficiency", "start": 48, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "HSP72 is rapidly expressed in response to a variety of stressors in vitro and in vivo (including hypoxia).", "output": {"entities": {"gene": [{"text": "HSP72", "start": 0, "end": 5}], "disease": [{"text": "hypoxia", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Most cases of JP have dystonia with parkinsonism, which is the main symptom of HPD.", "output": {"entities": {"gene": [{"text": "HPD", "start": 79, "end": 82}], "disease": [{"text": "parkinsonism", "start": 36, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The patients with myositis and cutaneous vasculitis simultaneously showed lower levels of CCR5 and CX3CR1, and CCR5 expression was negatively correlated with the scores of SLEDAI in SLE cases accompanied by photosensitivity (r = 0. 426, t =-2. 155, P < 0. 05).", "output": {"entities": {"gene": [{"text": "CCR5", "start": 90, "end": 94}], "disease": [{"text": "cutaneous vasculitis", "start": 31, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The results further suggest that the NPS and OAG phenotypes in the families studied result from mutations in a single gene, LMX1B.", "output": {"entities": {"gene": [{"text": "LMX1B", "start": 124, "end": 129}], "disease": [{"text": "NPS", "start": 37, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMX1B", "start": 124, "end": 129}, "tail": {"text": "NPS", "start": 37, "end": 40}}]}}, "schema": []}
{"input": "There was increased expression of adhesion receptors (CD11c, CD29, CD36, CD44, CD49e, CD54), receptors involved in signal transduction and/or inflammation (CD13, CD45, CD53), and other markers (CD9, CD52, CD71, CD98, HLA Class I) on macrophages from ILD patients compared to the non-ILD group.", "output": {"entities": {"gene": [{"text": "CD45", "start": 162, "end": 166}], "disease": [{"text": "inflammation", "start": 142, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.", "output": {"entities": {"gene": [{"text": "ALAS2", "start": 34, "end": 39}], "disease": [{"text": "X-linked sideroblastic anemia", "start": 56, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALAS2", "start": 34, "end": 39}, "tail": {"text": "X-linked sideroblastic anemia", "start": 56, "end": 85}}]}}, "schema": []}
{"input": "Importantly, our results suggest a novel role for CHFR regulating chromosome segregation where decreased expression, as seen in cancer cells, contributes to genomic instability by impairing the spindle assembly checkpoint.", "output": {"entities": {"gene": [{"text": "CHFR", "start": 50, "end": 54}], "disease": [{"text": "genomic instability", "start": 157, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.", "output": {"entities": {"gene": [{"text": "lamin A/C", "start": 36, "end": 45}], "disease": [{"text": "Hutchinson-Gilford progeria syndrome", "start": 78, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lamin A/C", "start": 36, "end": 45}, "tail": {"text": "Hutchinson-Gilford progeria syndrome", "start": 78, "end": 114}}]}}, "schema": []}
{"input": "After administration of secretin, the Autism Diagnostic Interview-Revised (ADI-R) score improved in 7 of the 12 children.", "output": {"entities": {"gene": [{"text": "secretin", "start": 24, "end": 32}], "disease": [{"text": "Autism", "start": 38, "end": 44}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "secretin", "start": 24, "end": 32}, "tail": {"text": "Autism", "start": 38, "end": 44}}]}}, "schema": []}
{"input": "Loss of LH-induced down-regulation of anti-Müllerian hormone receptor expression may contribute to anovulation in women with polycystic ovary syndrome.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 53, "end": 69}], "disease": [{"text": "anovulation", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the association between personality traits and systematic combination of functional polymorphisms in three genes that regulate the metabolism of catecholamines, namely, tyrosine hydroxylase (TH), monoamine oxidase A (MAOA), and catechol-O-methyltransferase (COMT).", "output": {"entities": {"gene": [{"text": "COMT", "start": 296, "end": 300}], "disease": [{"text": "personality traits", "start": 62, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Infusion of pathophysiological levels of circulating angiotensin II in rats causes cardiac myocyte necrosis, followed by fibroblast proliferation.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 53, "end": 67}], "disease": [{"text": "necrosis", "start": 99, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin II", "start": 53, "end": 67}, "tail": {"text": "necrosis", "start": 99, "end": 107}}]}}, "schema": []}
{"input": "Analyses of GATA4, NKX2. 5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 19, "end": 26}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "A patient with rheumatoid arthritis (RA) developed an atypical lymphoproliferative disorder (LPD) after methotrexate and cyclosporine A, which regressed after suspension of both drugs.", "output": {"entities": {"gene": [{"text": "LPD", "start": 93, "end": 96}], "disease": [{"text": "atypical lymphoproliferative disorder", "start": 54, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that changes in Cdk5 levels mediated by DeltaFosB, and resulting alterations in signalling involving D1 dopamine receptors, contribute to adaptive changes in the brain related to cocaine addiction.", "output": {"entities": {"gene": [{"text": "Cdk5", "start": 36, "end": 40}], "disease": [{"text": "cocaine addiction", "start": 199, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cdk5", "start": 36, "end": 40}, "tail": {"text": "cocaine addiction", "start": 199, "end": 216}}]}}, "schema": []}
{"input": "After controlling for age, gender, education, pack-years of smoking, alcohol drinking, body mass index, H. pylori infection, and fruit and salt intake, the adjusted odds ratio (OR) for GSTT1 and gastric cancer was 2. 50 (95% confidence interval (CI), 1. 01-6. 22).", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 185, "end": 190}], "disease": [{"text": "body mass index", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether caspase-8 can be used for gene therapy of gliomas, we transduced A-172 and U251 glioma cells with the caspase-8 gene via an adenoviral vector (Adv) controlled by the chicken beta-actin (CA) promoter (Advcaspase-8), and found that a similar level of caspase-8 protein induced A-172 cells to undergo necrotic cell death and U251 cells to undergo apoptotic cell death.", "output": {"entities": {"gene": [{"text": "beta-actin", "start": 197, "end": 207}], "disease": [{"text": "necrotic cell death", "start": 321, "end": 340}]}, "relations": {}}, "schema": []}
{"input": "For example, peripheral insulin resistance such as in chronic obesity results in increased IAPP and insulin secretion.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 91, "end": 95}], "disease": [{"text": "insulin resistance", "start": 24, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "We also found that the hypoxia-induced overexpression of VEGF, NDRG1, and HIF-1α was suppressed by digoxin in a concentration-dependent manner.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 57, "end": 61}], "disease": [{"text": "hypoxia", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "From a total of 109 microsatellite instability (MSI)-positive HNPCC-suspected patients, 11 showed a lack of MLH1 expression in tumor tissue and no germline mutations in the mismatch repair (MMR) genes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 190, "end": 193}], "disease": [{"text": "microsatellite instability", "start": 20, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Treating STZ-induced diabetic animals with the RCS scavenger, pyridoxamine, blunted SERCA2a activity loss and minimized diastolic dysfunction.", "output": {"entities": {"gene": [{"text": "RCS", "start": 47, "end": 50}], "disease": [{"text": "diastolic dysfunction", "start": 120, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The stages of melanocytic progression are defined as atypical (dysplastic) nevus, melanoma in situ, melanoma in the radial growth phase (RGP), melanoma in the vertical growth phase (VGP), and melanoma in the metastatic growth phase (MGP).", "output": {"entities": {"gene": [{"text": "MGP", "start": 233, "end": 236}], "disease": [{"text": "nevus", "start": 75, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Only one split of human leukocyte antigen (HLA)-DR5, HLA-DRB1 * 1104, showed a statistically significant association with a risk of chronic iridocyclitis (chi-square value = 7. 52; p = 0. 036 adjusted; odds ratio 3. 45); HLA-DQA1 * 0501 and HLA-DQB1 * 0301, both in linkage disequilibrium with HLA-DRB1 * 1104, also were significantly associated with eye disease.", "output": {"entities": {"gene": [{"text": "DR5", "start": 48, "end": 51}], "disease": [{"text": "eye disease", "start": 351, "end": 362}]}, "relations": {}}, "schema": []}
{"input": "Although CORIN was detected in first trimester serum, levels did not change across gestation, nor could they predict miscarriage or FGR (other disorders of impaired placental invasion).", "output": {"entities": {"gene": [{"text": "FGR", "start": 132, "end": 135}], "disease": [{"text": "miscarriage", "start": 117, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The effects that IL-1 alpha, IL-1 beta, TGF-beta, TNF-alpha, and IL-6 have on hypoxia-induced Epo production may provide new insights into the signal transduction pathway by which hypoxia leads to changes in gene expression.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 40, "end": 48}], "disease": [{"text": "hypoxia", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we found that silibinin could inhibit the nuclear factor kappaB (NF-kappaB) p50 translocation via the up-regulation of I kappaB alpha protein, and possibly subsequently down-regulated the expression of two major EMT regulators, ZEB1 and SLUG transcription factors.", "output": {"entities": {"gene": [{"text": "ZEB1", "start": 238, "end": 242}], "disease": [{"text": "translocation", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Transgene expression resulted in cardiac conduction defects, increased expression of the cardiac-specific transcription factor NKX2-5 and profound disturbances in connexin 40 and connexin 43.", "output": {"entities": {"gene": [{"text": "connexin 40", "start": 163, "end": 174}], "disease": [{"text": "cardiac conduction defects", "start": 33, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the FGFR3 gene, deletions (loss of heterozygosity) of 9p, 9q, and 17p, microsatellite instability, and elevated microsatellite instability at selected tetranucleotides were also analyzed.", "output": {"entities": {"gene": [{"text": "FGFR3 gene", "start": 17, "end": 27}], "disease": [{"text": "microsatellite instability", "start": 84, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Escherichia coli lipopolysaccharide (LPS), native and oxidized low-density lipoprotein (LDL; oxLDL) and high temperature to induce adhesion molecules as well as Hsp60 and Hsp70 expression in human endothelial cells (EC).", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 171, "end": 176}], "disease": [{"text": "adhesion", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In the nodule, TPO and NIS expression was very low.", "output": {"entities": {"gene": [{"text": "TPO", "start": 15, "end": 18}], "disease": [{"text": "nodule", "start": 7, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "HIF-1 is the central regulator of responses to hypoxia which induces the transcription of genes involved in angiogenesis (e. g., VEGF-Vascular Endothelial Growth Factor) and cellular metabolism (e. g., GLUT-1).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 129, "end": 133}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "However, inhibition of PI (3) kinase or EGFR did not completely abolish induction of VEGF mRNA by hypoxia (0. 2% oxygen).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 85, "end": 89}], "disease": [{"text": "hypoxia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "A series of in vitro cell efflux and plasma membrane vesicle uptake assays were undertaken to investigate whether CBZ was an ABCC2 substrate.", "output": {"entities": {"gene": [{"text": "ABCC2", "start": 125, "end": 130}], "disease": [{"text": "vesicle", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Our results also show that, like EGCG, the synthetic analog inhibits hypoxia-and serum starvation-induced production of VEGF mRNA in breast cancer cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 120, "end": 124}], "disease": [{"text": "starvation", "start": 87, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The findings in this study confirm that mutations of exon 48 of the COL2A1 gene, that alter the normal Gly-X-Y triplet structure of the corresponding region of alpha 1 (II) chains of type II collagen, produce the spondyloepiphyseal dysplasia congenita phenotype.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 68, "end": 74}], "disease": [{"text": "spondyloepiphyseal dysplasia congenita", "start": 213, "end": 251}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 68, "end": 74}, "tail": {"text": "spondyloepiphyseal dysplasia congenita", "start": 213, "end": 251}}]}}, "schema": []}
{"input": "Lung inflammation, IFN-gamma: IL-4 mRNA expression ratios, airway obstruction (AO), and airway hyperreactivity (AHR) were significantly increased in mice inoculated with live RSV.", "output": {"entities": {"gene": [{"text": "AHR", "start": 112, "end": 115}], "disease": [{"text": "airway obstruction", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In this report we describe a novel gene, EVC2, that is mutated in an Ashkenazi individual with EvC syndrome.", "output": {"entities": {"gene": [{"text": "EVC2", "start": 41, "end": 45}], "disease": [{"text": "EvC", "start": 95, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EVC2", "start": 41, "end": 45}, "tail": {"text": "EvC", "start": 95, "end": 98}}]}}, "schema": []}
{"input": "In tissue sections, FISH allows precise histopathologic correlation of multiple foci of normal epithelium, premalignant lesions, and carcinoma within a single specimen, including study of intratumoral heterogeneity.", "output": {"entities": {"gene": [{"text": "FISH", "start": 20, "end": 24}], "disease": [{"text": "premalignant", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We examined the correlation between chronic alcoholic pancreatitis and variants of the phase II detoxification enzymes such as Glutathione S-transferase M1 (GSTM1), glutathione S-transferase theta 1 (GSTT1), NADPH-quinone oxidoreductase 1 (NQO1), and N-acetyl transferase (NAT2).", "output": {"entities": {"gene": [{"text": "NQO1", "start": 240, "end": 244}], "disease": [{"text": "alcoholic pancreatitis", "start": 44, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We conclude that CDD, the most severe form of sclerotic bone disease, is part of a spectrum of disease caused by mutations in SOST.", "output": {"entities": {"gene": [{"text": "SOST", "start": 126, "end": 130}], "disease": [{"text": "CDD", "start": 17, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOST", "start": 126, "end": 130}, "tail": {"text": "CDD", "start": 17, "end": 20}}]}}, "schema": []}
{"input": "Hypermethylation of the 5' CpG island of the p21 (CIP1), p27 (KIP1), p57 (KIP2), p53, p73 and RB 1 gene promoter were found in 8. 8, 8. 8, 11. 2, 12, 25. 6 and 4. 8% of 125 cervical cancer samples from north Indian population, respectively.", "output": {"entities": {"gene": [{"text": "KIP2", "start": 74, "end": 78}], "disease": [{"text": "cervical cancer", "start": 173, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "This study also revealed the presence of six polymorphisms in Turkish DMD/BMD patients.", "output": {"entities": {"gene": [{"text": "DMD", "start": 70, "end": 73}], "disease": [{"text": "BMD", "start": 74, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DMD", "start": 70, "end": 73}, "tail": {"text": "BMD", "start": 74, "end": 77}}]}}, "schema": []}
{"input": "In contrast, two GALE-variant proteins associated with peripheral epimerase deficiency, L313M-hGALE and D103G-hGALE, demonstrated near-normal levels of activity with regard to both substrates, but a third allele, G90E-hGALE, demonstrated little, if any, detectable activity, despite near-normal abundance.", "output": {"entities": {"gene": [{"text": "GALE", "start": 17, "end": 21}], "disease": [{"text": "epimerase deficiency", "start": 66, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALE", "start": 17, "end": 21}, "tail": {"text": "epimerase deficiency", "start": 66, "end": 86}}]}}, "schema": []}
{"input": "Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.", "output": {"entities": {"gene": [{"text": "HYDIN", "start": 10, "end": 15}], "disease": [{"text": "primary ciliary dyskinesia", "start": 32, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HYDIN", "start": 10, "end": 15}, "tail": {"text": "primary ciliary dyskinesia", "start": 32, "end": 58}}]}}, "schema": []}
{"input": "The M. leprae bacterium binds to ErbB2 on the Schwann cell surface causing demyelination and favoring spread of the bacilli and causing nerve injury.", "output": {"entities": {"gene": [{"text": "ErbB2", "start": 33, "end": 38}], "disease": [{"text": "demyelination", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "BMP4 expression is high in retinal pigment epithelium (RPE) cells in late, dry AMD patients, while BMP4 expression is low in the wet form of the disease, characterized by choroidal neovascularization (CNV).", "output": {"entities": {"gene": [{"text": "BMP4", "start": 0, "end": 4}], "disease": [{"text": "choroidal neovascularization", "start": 171, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects.", "output": {"entities": {"gene": [{"text": "MIM", "start": 17, "end": 20}], "disease": [{"text": "facial dysmorphism", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Metaphase analyses showed increased aneuploidy in Nrf1 (-/-) embryonic fibroblasts.", "output": {"entities": {"gene": [{"text": "Nrf1", "start": 50, "end": 54}], "disease": [{"text": "aneuploidy", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.", "output": {"entities": {"gene": [{"text": "SLC26A4 gene", "start": 27, "end": 39}], "disease": [{"text": "sporadic", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Positive Bcl-2 ICC staining and the t (14; 18) translocation were positively correlated (p < 0. 001).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 9, "end": 14}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "No association was found between either the exudative or the dry form and the polymorphisms in the Apolipoprotein E, complement factor I, FXIII and MerTK genes.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 99, "end": 115}], "disease": [{"text": "dry", "start": 61, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Our findings demonstrate that P-cadherin is a direct PAX3-FOXO1A transcriptional target involved in ARMS aggressiveness.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 53, "end": 57}], "disease": [{"text": "aggressiveness", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Recurrent distal 7q11. 23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.", "output": {"entities": {"gene": [{"text": "HIP1", "start": 45, "end": 49}], "disease": [{"text": "neurobehavioral problems", "start": 129, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Of note, the known tumor invasiveness marker cathepsin B, measured in whole-tumor homogenates, was not prognostic, in contrast to its endogenous inhibitor stefin B, which was highly significant and the only independent prognostic factor to predict meningioma relapse in multivariate analysis and reported herein for the first time.", "output": {"entities": {"gene": [{"text": "stefin B", "start": 155, "end": 163}], "disease": [{"text": "meningioma", "start": 248, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "stefin B", "start": 155, "end": 163}, "tail": {"text": "meningioma", "start": 248, "end": 258}}]}}, "schema": []}
{"input": "Detection of HBX complete sequences was associated with R249S in HCC with no documented prior cirrhosis but not in HCC developing in a context of cirrhosis or in non-cancer chronic liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 65, "end": 68}], "disease": [{"text": "liver diseases", "start": 181, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "TAR-DNA-binding protein 43 (TDP-43) has been identified as a major component protein of ubiquitin-positive inclusions in brains from patients with frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 4, "end": 23}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 229, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "A multivariate Cox regression stepwise analysis indicated that HDAC6, 7 and 10 and SIRT3 were TFS independent predictors.", "output": {"entities": {"gene": [{"text": "HDAC6", "start": 63, "end": 68}], "disease": [{"text": "regression", "start": 19, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "In vivo assessment of synergistic antitumor activity was conducted in a U87 glioma model.", "output": {"entities": {"gene": [{"text": "U87", "start": 72, "end": 75}], "disease": [{"text": "glioma", "start": 76, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Quantitative analysis of NMDAR2B promoter methylation showed 61% (17/28) hypermethylation in primary gastric tumors versus 5% (1/20) in normal gastric tissues from nongastric cancer patients.", "output": {"entities": {"gene": [{"text": "NMDAR2B", "start": 25, "end": 32}], "disease": [{"text": "cancer", "start": 175, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We observed a low frequency of somatic alterations (relative to other carcinomas) and extended the set of known PTC driver alterations to include EIF1AX, PPM1D, and CHEK2 and diverse gene fusions.", "output": {"entities": {"gene": [{"text": "EIF1AX", "start": 146, "end": 152}], "disease": [{"text": "PTC", "start": 112, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EIF1AX", "start": 146, "end": 152}, "tail": {"text": "PTC", "start": 112, "end": 115}}]}}, "schema": []}
{"input": "These findings require replication in other populations but suggest that the FOXP3 polymorphisms can be associated with risk of idiopathic infertility (rs2280883 and rs2232368) and endometriosis (rs3761549) in Brazilian women.", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 77, "end": 82}], "disease": [{"text": "infertility", "start": 139, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Ethanol-elicited nuclear GAPDH augments TIEG2-mediated MAO B, which might play a role in brain damage in subjects with alcoholism.", "output": {"entities": {"gene": [{"text": "GAPDH", "start": 25, "end": 30}], "disease": [{"text": "alcoholism", "start": 119, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAPDH", "start": 25, "end": 30}, "tail": {"text": "alcoholism", "start": 119, "end": 129}}]}}, "schema": []}
{"input": "The finding that the expressions of DNMT1 and TET1 are increased and SZ candidate genes such as BDNF and GCortR are altered in the same direction in both the brain and PBL together with recent studies showing highly correlated patterns of DNA methylation across the brain and blood, support the hypothesis that a common epigenetic dysregulation may be operative in the brain and peripheral tissues of SZ patients.", "output": {"entities": {"gene": [{"text": "TET1", "start": 46, "end": 50}], "disease": [{"text": "SZ", "start": 69, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TET1", "start": 46, "end": 50}, "tail": {"text": "SZ", "start": 69, "end": 71}}]}}, "schema": []}
{"input": "These results reveal a liver tumor suppressor role of p27 in this resistant mouse strain, and the need to further study the role of Cdk2 kinase in liver tumor promotion by p27 inactivation.", "output": {"entities": {"gene": [{"text": "Cdk2", "start": 132, "end": 136}], "disease": [{"text": "liver tumor", "start": 23, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Number of polyploid giant cancer cells and expression of EZH2 are associated with VM formation and tumor grade in human ovarian tumor.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 57, "end": 61}], "disease": [{"text": "giant", "start": 20, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Ovalbumin sensitization and challenge caused rhinitis pathology including inflammatory cell infiltration, IL-4, and protein leakage in the nasal lavage fluid (NLF) and presence of inflammatory cells in nasal epithelium.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 106, "end": 110}], "disease": [{"text": "rhinitis", "start": 45, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-4", "start": 106, "end": 110}, "tail": {"text": "rhinitis", "start": 45, "end": 53}}]}}, "schema": []}
{"input": "It is suggested that the whole-cell pertussis present in DTP vaccine, acting as an excessive stimulus in these patients, produced symptoms reminiscent of biologic responses to circulating proinflammatory monokines such as IL-1beta, TNF-alpha, and IL-6 because earlier it was reported that in vitro the whole-cell vaccine induced significantly more such cytokine production than did the acellular pertussis or diphtheria-tetanus-only vaccine.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 247, "end": 251}], "disease": [{"text": "pertussis", "start": 36, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Upon reinfection, WT mice exhibited a transient local infection with evidence of regulatory T-cell (Treg)/Foxp3 mRNA and a more balanced Th1 and Th2 response in the genital tract than ICOS (-/-) mice, whereas 90% of the latter mice developed sterile immunity, poor expression of local Treg/Foxp3 mRNA, and macroscopic signs of enhanced local immunopathology.", "output": {"entities": {"gene": [{"text": "Foxp3", "start": 106, "end": 111}], "disease": [{"text": "sterile", "start": 242, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "Basal gene expression by lung CD4 + T cells in chronic obstructive pulmonary disease identifies independent molecular correlates of airflow obstruction and emphysema extent.", "output": {"entities": {"gene": [{"text": "CD4", "start": 30, "end": 33}], "disease": [{"text": "emphysema", "start": 156, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "These results revealed that there was a close relationship between the appearance of MIF expression and ED1-positive exudate macrophages in degenerated hepatocytes during the progression of TA-induced liver fibrosis.", "output": {"entities": {"gene": [{"text": "MIF", "start": 85, "end": 88}], "disease": [{"text": "liver fibrosis", "start": 201, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Fluorescent in situ hybridization (FISH) analysis using an AML1-ETO translocation dual probe, showed that the 21q22 breakpoint involved AML1 locus.", "output": {"entities": {"gene": [{"text": "AML1", "start": 59, "end": 63}], "disease": [{"text": "translocation", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Finally, treating the cells with pUC alone or in combination with radiation induced the translocation of the MEKK-1-p-JNK complex from cytosol to nucleus, thereby inhibiting the migration of glioma cells.", "output": {"entities": {"gene": [{"text": "MEKK", "start": 109, "end": 113}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our research led us to the identification of miR-135b and its targets, MID1 and MTCH2, as relevant coordinators of mammary gland tumor progression.", "output": {"entities": {"gene": [{"text": "MID1", "start": 86, "end": 90}], "disease": [{"text": "tumor progression", "start": 144, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "This study emphasises the principal role of ABCC6 mutations in the pathogenesis of PXE, but the reasons for phenotypic variability remain to be explored.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 44, "end": 49}], "disease": [{"text": "PXE", "start": 83, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 44, "end": 49}, "tail": {"text": "PXE", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "Whereas Ctla4 heterozygous mice have no obvious phenotype, human CTLA4 haploinsufficiency caused dysregulation of FoxP3 (+) regulatory T (Treg) cells, hyperactivation of effector T cells, and lymphocytic infiltration of target organs.", "output": {"entities": {"gene": [{"text": "Ctla4", "start": 8, "end": 13}], "disease": [{"text": "CTLA4 haploinsufficiency", "start": 65, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Ctla4", "start": 8, "end": 13}, "tail": {"text": "CTLA4 haploinsufficiency", "start": 65, "end": 89}}]}}, "schema": []}
{"input": "It indicates an interesting relationship between c-Jun expression and increased property of adhesion, migration and in vivo liver metastasis of MCF-7/c-Jun cells.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 49, "end": 54}], "disease": [{"text": "adhesion", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The smallest region of overlap (SRO) for all of the 74 PTLS duplications examined is narrowed to a 125 kb interval containing only RAI1, a gene recently further implicated in autism.", "output": {"entities": {"gene": [{"text": "RAI1", "start": 131, "end": 135}], "disease": [{"text": "PTLS", "start": 55, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAI1", "start": 131, "end": 135}, "tail": {"text": "PTLS", "start": 55, "end": 59}}]}}, "schema": []}
{"input": "The purpose of the current study is to evaluate the histologic factors that may affect the development of rubeosis iridis in eyes with retinoblastoma and to examine whether vascular endothelial growth factor (VEGF), a hypoxia-induced angiogenic factor, is produced by hypoxic retinoblastoma and retinal cells in these eyes.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 209, "end": 213}], "disease": [{"text": "hypoxic", "start": 268, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "Thus, we propose a novel theory accounting for memory impairment related to AD: Abeta-dependent inactivation of the JAK2/STAT3 axis causes memory loss through cholinergic dysfunction.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 116, "end": 120}], "disease": [{"text": "memory loss", "start": 139, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We report a patient with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa, in whom COL7A1 mutations have been identified on both alleles.", "output": {"entities": {"gene": [{"text": "COL7A1", "start": 110, "end": 116}], "disease": [{"text": "recessive dystrophic epidermolysis bullosa", "start": 58, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL7A1", "start": 110, "end": 116}, "tail": {"text": "recessive dystrophic epidermolysis bullosa", "start": 58, "end": 100}}]}}, "schema": []}
{"input": "The aim of this study was to screen and detect mutations of the ATP7B gene in unrelated Turkish Wilson disease patients (n & #160; = & #160; 46) and control group (n & #160; = & #160; 52).", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 64, "end": 69}], "disease": [{"text": "Wilson disease", "start": 96, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 64, "end": 69}, "tail": {"text": "Wilson disease", "start": 96, "end": 110}}]}}, "schema": []}
{"input": "We performed a case-control association study between the common A/G polymorphism at position-670 in the Fas gene (TNFSRF6) promoter and sporadic AD in Jews, investigating whether this locus acts as a risk factor or whether it has a modifying effect.", "output": {"entities": {"gene": [{"text": "Fas gene", "start": 105, "end": 113}], "disease": [{"text": "sporadic", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Compared with primary cancer patients and control subjects, recurrent cancer patients showed higher serum HGF concentrations (p < 0. 05, p < 0. 01 respectively), higher HGF concentrations in PBMC supernatants (p < 0. 01 for both) and more frequent HGF mRNA expression in PBMC.", "output": {"entities": {"gene": [{"text": "HGF", "start": 106, "end": 109}], "disease": [{"text": "recurrent cancer", "start": 60, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The corticotropin releasing hormone binding protein gene is likely to be involved in the genetic vulnerability for major depression.", "output": {"entities": {"gene": [{"text": "corticotropin releasing hormone binding protein", "start": 4, "end": 51}], "disease": [{"text": "major depression", "start": 115, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "corticotropin releasing hormone binding protein", "start": 4, "end": 51}, "tail": {"text": "major depression", "start": 115, "end": 131}}]}}, "schema": []}
{"input": "We examined the antiangiogenic effect against hepatocellular carcinoma (HCC) of the copper chelator trientine, especially focusing on the relationship between copper and interleukin-8 (IL-8), a potent angiogenic factor produced by hepatoma cells.", "output": {"entities": {"gene": [{"text": "interleukin-8", "start": 170, "end": 183}], "disease": [{"text": "hepatocellular carcinoma", "start": 46, "end": 70}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interleukin-8", "start": 170, "end": 183}, "tail": {"text": "hepatocellular carcinoma", "start": 46, "end": 70}}]}}, "schema": []}
{"input": "While a number of clinical and experimental observations have implicated Bmi-1 in human tumorigenesis, the role of Mel-18 in cancer cell growth has not been investigated.", "output": {"entities": {"gene": [{"text": "Mel-18", "start": 115, "end": 121}], "disease": [{"text": "tumorigenesis", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The allele frequencies of IL-10-592C and-819C were significantly higher in HBV-related ALF patients than in blood donors and asymptomatic HBV carriers.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 26, "end": 31}], "disease": [{"text": "asymptomatic", "start": 125, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "CHRNA2", "start": 104, "end": 110}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNA2", "start": 104, "end": 110}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Two associations were observed that were consistent in both Hispanics and non-Hispanic Whites: IGF1 CA repeat alleles of length other than 19 were associated with higher mean waist-to-hip ratios (WHR), P = 0. 01, and women who carried an IGFBP3 A allele, compared with women with the CC genotype, more often reported high birthweight (odds ratio, 1. 9; 95% confidence interval, 1. 1-3. 2).", "output": {"entities": {"gene": [{"text": "IGF1", "start": 95, "end": 99}], "disease": [{"text": "birthweight", "start": 322, "end": 333}]}, "relations": {}}, "schema": []}
{"input": "The dark atrophy with indocyanine green angiography in Stargardt disease.", "output": {"entities": {"gene": [{"text": "Stargardt disease", "start": 55, "end": 72}], "disease": [{"text": "atrophy", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "The recent identification of two new genes, ARTS1 and IL23R, and confirmation of IL-1A association further substantiate that ankylosing spondylitis is determined to a large extent by genes outside the major histocompatibility complex.", "output": {"entities": {"gene": [{"text": "ARTS1", "start": 44, "end": 49}], "disease": [{"text": "spondylitis", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We conclude that phosphohydroxylysinuria is due to mutations in the AGXT2L2 gene and the resulting lack of activity of phosphohydroxylysine phospholyase in vivo.", "output": {"entities": {"gene": [{"text": "AGXT2L2", "start": 68, "end": 75}], "disease": [{"text": "phosphohydroxylysinuria", "start": 17, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGXT2L2", "start": 68, "end": 75}, "tail": {"text": "phosphohydroxylysinuria", "start": 17, "end": 40}}]}}, "schema": []}
{"input": "To examine the FSH receptor gene for detectable abnormalities in women with premature ovarian failure.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 15, "end": 27}], "disease": [{"text": "abnormalities", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Quantitative assessment of the bleeding symptoms by a bleeding questionnaire seems to be useful for evaluating the severity of bleeding episodes, but it can not be recommended as a screening tool for FXI deficiency.", "output": {"entities": {"gene": [{"text": "FXI", "start": 200, "end": 203}], "disease": [{"text": "bleeding", "start": 31, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Serum fasting plasma glucose (FPG), postprandial plasma glucose (PPG), glycated haemoglobin (HbA1c), fasting serum insulin (FINS), postprandial serum insulin (PINS), triglycerol (TG), cholesterol (CHO), low-density lipoprotein cholesterol (LDL-c), high-density lipoprotein cholesterol (HDL-c), homeostasis model assessment for insulin resistance (HOMA-IR), and body mass index (BMI) were determined before and after metformin treatment.", "output": {"entities": {"gene": [{"text": "PINS", "start": 159, "end": 163}], "disease": [{"text": "insulin resistance", "start": 327, "end": 345}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the role of SOX2 in ovarian cancer tumorigenesis and paclitaxel resistance.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 50, "end": 54}], "disease": [{"text": "tumorigenesis", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Toluene diisocyanate (TDI)-induced airway disease is a disorder characterized by chronic airway inflammation and airway remodeling.", "output": {"entities": {"gene": [{"text": "TDI", "start": 22, "end": 25}], "disease": [{"text": "airway remodeling", "start": 113, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The expression of MEGF10 was also compared between healthy control subjects and schizophrenia patients using postmortem brain cDNA libraries.", "output": {"entities": {"gene": [{"text": "MEGF10", "start": 18, "end": 24}], "disease": [{"text": "schizophrenia", "start": 80, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MEGF10", "start": 18, "end": 24}, "tail": {"text": "schizophrenia", "start": 80, "end": 93}}]}}, "schema": []}
{"input": "Low doses of kainic acid (5 mg/kg) that produced little or no behavioral or electroencephalogram (EEG) alterations in wild type or glial fibrillary acidic protein (GFAP)-TNF animals induced severe tonic-clonic seizures and death in GFAP-IL6 transgenic mice of 2 or 6 months of age.", "output": {"entities": {"gene": [{"text": "IL6", "start": 237, "end": 240}], "disease": [{"text": "tonic-clonic seizures", "start": 197, "end": 218}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL6", "start": 237, "end": 240}, "tail": {"text": "tonic-clonic seizures", "start": 197, "end": 218}}]}}, "schema": []}
{"input": "Although cultured fibroblasts from the patient did not show the expected functional abnormalities of the cobalamin-dependent enzymes, methylmalonyl-CoA mutase and methionine synthase, they did show reduced synthesis of the active cobalamin cofactors adenosylcobalamin and methylcobalamin.", "output": {"entities": {"gene": [{"text": "methylmalonyl-CoA mutase", "start": 134, "end": 158}], "disease": [{"text": "abnormalities", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Long-term treatment of KGN cells with TGFα resulted in a significant increase in cyclin D2 and a decrease in p27/Kip1, two critical regulators of granulosa cell proliferation and granulosa cell tumorigenesis.", "output": {"entities": {"gene": [{"text": "p27", "start": 109, "end": 112}], "disease": [{"text": "tumorigenesis", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The primary GBM subtype presents acutely as a high-grade disease that typically harbours mutations in EGFR, PTEN and INK4A/ARF (also known as CDKN2A), and the secondary GBM subtype evolves from the slow progression of a low-grade disease that classically possesses PDGF and TP53 events.", "output": {"entities": {"gene": [{"text": "CDKN2A", "start": 142, "end": 148}], "disease": [{"text": "slow progression", "start": 198, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "ERG abnormalities have been documented in other mutations of the PAX6 gene, and we propose that the retinal pathology causing these ERG abnormalities may contribute to the photophobia experienced by patients with aniridia.", "output": {"entities": {"gene": [{"text": "ERG", "start": 0, "end": 3}], "disease": [{"text": "abnormalities", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "This provides genetic evidence that Twist1, Msx2 and Efna4 function together in boundary formation and the pathogenesis of coronal synostosis.", "output": {"entities": {"gene": [{"text": "Msx2", "start": 44, "end": 48}], "disease": [{"text": "coronal synostosis", "start": 123, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "This suggests that chronic overproduction of islet amyloid polypeptide \" per se \" does not cause insulin resistance.", "output": {"entities": {"gene": [{"text": "islet amyloid polypeptide", "start": 45, "end": 70}], "disease": [{"text": "insulin resistance", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Processes occurring after SAH lead to enhanced arterial contractility and ECM remodeling either directly or through angiogenesis and inflammation.", "output": {"entities": {"gene": [{"text": "SAH", "start": 26, "end": 29}], "disease": [{"text": "inflammation", "start": 133, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking the MLP gene develop cardiac hypertrophy, dilated cardiopathy and heart failure.", "output": {"entities": {"gene": [{"text": "MLP", "start": 17, "end": 20}], "disease": [{"text": "cardiopathy", "start": 63, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "These results show that SULF1 promotes histone H4 acetylation, potentiates the effects of HDAC inhibitors, and inhibits HCC tumorigenesis.", "output": {"entities": {"gene": [{"text": "SULF1", "start": 24, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "In summary, cell death following integrin inhibition is detachment mediated, represents an atypical form of anoikis involving necrosis as well as autophagy, and is modulated by TGF-β pathway activity.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 177, "end": 182}], "disease": [{"text": "necrosis", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "METHODS: Six EGF family peptides and a truncated EGF receptor splice variant (p110/EGFR) were examined using immunohistochemistry in the trophoblast of placentas (N = 76) from women with preeclampsia, and compared to placentas from women of similar gestational age (GA) with preterm labor (PTL) or small for gestational age (SGA) fetuses, as well as normal term placentas.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 83, "end": 87}], "disease": [{"text": "preeclampsia", "start": 187, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that in primary immunodeficiency-related lymphoma, LMP1 and EBNA2 are expressed and that this expression correlates with expression of CD23.", "output": {"entities": {"gene": [{"text": "CD23", "start": 154, "end": 158}], "disease": [{"text": "primary immunodeficiency", "start": 27, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Using epithelial RNA expression arrays, HapMap allele frequency variation, and the literature, we identified six possible candidate susceptibility genes for childhood asthma including ADCY2, DNAH5, KIF3A, PDE4B, PLAU, SPRR2B.", "output": {"entities": {"gene": [{"text": "DNAH5", "start": 191, "end": 196}], "disease": [{"text": "childhood asthma", "start": 157, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Transforming growth factor-β signaling appears to be activated in desmoid-type fibromatosis and phosphorylated SMAD2/3 and COX2 immunoreactivity might be of diagnostic utility in these tumors.", "output": {"entities": {"gene": [{"text": "SMAD2", "start": 111, "end": 116}], "disease": [{"text": "desmoid-type fibromatosis", "start": 66, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Resolution of fibrosis was impaired in macrophage fas-induced apoptosis mice but increased after overexpression of CXCL9.", "output": {"entities": {"gene": [{"text": "CXCL9", "start": 115, "end": 120}], "disease": [{"text": "fibrosis", "start": 14, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Gene coding thromboxane A2 receptor (TBXA2R), involved in chronic airway inflammation, has been associated with asthma in several genetic studies.", "output": {"entities": {"gene": [{"text": "TBXA2R", "start": 37, "end": 43}], "disease": [{"text": "inflammation", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "In this study, we analyzed four KALRN gene SNPs in 503 ischemic stroke patients and 493 control subjects, separating the patients into separate research groups based on comorbidity with hypertension or diabetes and stroke type (atherosis or lacunar and combination type).", "output": {"entities": {"gene": [{"text": "KALRN gene", "start": 32, "end": 42}], "disease": [{"text": "diabetes", "start": 202, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Myotonia permanens is associated with a G1306E mutation in the SCN4A gene.", "output": {"entities": {"gene": [{"text": "SCN4A", "start": 63, "end": 68}], "disease": [{"text": "Myotonia permanens", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN4A", "start": 63, "end": 68}, "tail": {"text": "Myotonia permanens", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.", "output": {"entities": {"gene": [{"text": "ERLIN2", "start": 8, "end": 14}], "disease": [{"text": "juvenile primary lateral sclerosis", "start": 33, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ERLIN2", "start": 8, "end": 14}, "tail": {"text": "juvenile primary lateral sclerosis", "start": 33, "end": 67}}]}}, "schema": []}
{"input": "In the present study, we have investigated the hyperinsulinaemia/hyperglycaemia-induced epigenetic changes and alteration of Fbn1 (fibrillin 1) and Col3A1 (collagen type & #160; III & #945; 1) gene expression.", "output": {"entities": {"gene": [{"text": "Col3A1", "start": 148, "end": 154}], "disease": [{"text": "hyperglycaemia", "start": 65, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Col3A1", "start": 148, "end": 154}, "tail": {"text": "hyperglycaemia", "start": 65, "end": 79}}]}}, "schema": []}
{"input": "The CACNA1B variant c. 4166G > A; (p. R1389H) was recently reported as the likely causative mutation in a single 3-generation Dutch pedigree with five subjects affected by a unique dominant M-D syndrome and cardiac arrhythmias.", "output": {"entities": {"gene": [{"text": "CACNA1B", "start": 4, "end": 11}], "disease": [{"text": "cardiac arrhythmias", "start": 207, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Signal transducer and activator of transcription 3 (STAT3) is activated, as determined by electrophoretic motility shift assays, by EGFR in DU145 and PC3 human prostate carcinoma cells in addition to the motility model NR6 fibroblast cell line.", "output": {"entities": {"gene": [{"text": "NR6", "start": 219, "end": 222}], "disease": [{"text": "prostate carcinoma", "start": 160, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We determined the expression of BSP using real-time RT-PCR and immunohistochemistry in tissue microarrays containing 15 normal brain and 270 glioma samples.", "output": {"entities": {"gene": [{"text": "BSP", "start": 32, "end": 35}], "disease": [{"text": "glioma", "start": 141, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Statistical analyses of 43 cases of HCC revealed that HCC scored higher than the matched non-neoplastic liver tissues.", "output": {"entities": {"gene": [{"text": "HCC", "start": 36, "end": 39}], "disease": [{"text": "non-neoplastic", "start": 89, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "While insertions can target the gene directly, numerous clusters of retroviral insertion sites have been identified which map close to c-myb and outside the transcription unit in T-lymphomas (Ahi-1, fit-1, and Mis-2) and monocytic and myeloid leukemias (Mml1, Mml2, Mml3, and Epi-1).", "output": {"entities": {"gene": [{"text": "fit-1", "start": 199, "end": 204}], "disease": [{"text": "myeloid leukemias", "start": 235, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "short stature", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, high serum level of LIPH was correlated with better survival in early phase lung cancer patients after surgery.", "output": {"entities": {"gene": [{"text": "LIPH", "start": 35, "end": 39}], "disease": [{"text": "lung cancer", "start": 91, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "During hypoxia, HMGB1 translocates from the nucleus to the cytosol and binds to mtDNA released from damaged mitochondria.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 16, "end": 21}], "disease": [{"text": "hypoxia", "start": 7, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "The subjects with OTOG mutations have a moderate hearing impairment, which can be associated with vestibular dysfunction.", "output": {"entities": {"gene": [{"text": "OTOG", "start": 18, "end": 22}], "disease": [{"text": "vestibular dysfunction", "start": 98, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We found evidence for association of bipolar disorder with PPARD, a gene in the Wnt signaling pathway.", "output": {"entities": {"gene": [{"text": "PPARD", "start": 59, "end": 64}], "disease": [{"text": "bipolar disorder", "start": 37, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPARD", "start": 59, "end": 64}, "tail": {"text": "bipolar disorder", "start": 37, "end": 53}}]}}, "schema": []}
{"input": "The present view of the neuroprotective functions and mechanisms of action of vascular endothelial growth factor (VEGF) is based on studies of neuronal ischemic/hypoxic models in vivo and in vitro.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 114, "end": 118}], "disease": [{"text": "hypoxic", "start": 161, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In addition to a number of established ischemia-related genes, many genes not previously implicated in transient focal ischemia-induced brain damage [suppressor of cytokine signaling (SOCS)-3, cAMP responsive element modulator (CREM), cytosolic retinol binding protein (CRBP), silencer factor-B, survival motor neuron (SMN), interferon-gamma regulatory factor-1 (IRF-1), galanin, neurotrimin, proteasome subunit RC8, synaptosomal-associated protein (SNAP)-25 A and B, synapsin 1a, neurexin 1-beta, ras-related rab3, vesicular GABA transporter (VGAT), digoxin carrier protein, neuronal calcium sensor-1 and neurodap] were observed to be altered in the ischemic cortex.", "output": {"entities": {"gene": [{"text": "VGAT", "start": 544, "end": 548}], "disease": [{"text": "ischemia", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "L-3-n-butylphthalide (L-NBP), an extract from seeds of Apium graveolens Linn (Chinese celery), has been demonstrated to have neuroprotective effects on ischemic, vascular dementia, and amyloid-beta (Abeta)-infused animal models.", "output": {"entities": {"gene": [{"text": "NBP", "start": 24, "end": 27}], "disease": [{"text": "amyloid", "start": 185, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Our studies indicate that the AVP and its V1b receptor system may be a potential therapeutic target for treating anxiety and depressive symptoms associated with cocaine addiction.", "output": {"entities": {"gene": [{"text": "AVP", "start": 30, "end": 33}], "disease": [{"text": "cocaine addiction", "start": 161, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AVP", "start": 30, "end": 33}, "tail": {"text": "cocaine addiction", "start": 161, "end": 178}}]}}, "schema": []}
{"input": "These results suggest that HER-2/neu overexpression may be linked with overall increased tumor viability and a significant increase in the population of viable hypoxic cells, which is not due to differences in tumor vascularization.", "output": {"entities": {"gene": [{"text": "HER-2/neu", "start": 27, "end": 36}], "disease": [{"text": "vascularization", "start": 216, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that the binding site of hypoxia-inducible factor 1 (HIF1) is crucial for the hypoxic induction of VEGF gene expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 115, "end": 119}], "disease": [{"text": "hypoxic", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.", "output": {"entities": {"gene": [{"text": "SDHA", "start": 19, "end": 23}], "disease": [{"text": "mitochondrial complex II deficiency", "start": 79, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHA", "start": 19, "end": 23}, "tail": {"text": "mitochondrial complex II deficiency", "start": 79, "end": 114}}]}}, "schema": []}
{"input": "BACKGROUND: The aim of this study was to investigate whether focal adhesion kinase (FAK) overexpression correlates with lymph node metastases and prognosis.", "output": {"entities": {"gene": [{"text": "FAK", "start": 84, "end": 87}], "disease": [{"text": "lymph node metastases", "start": 120, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of infarct tissue showed a four-fold increase in NOS3 expression in the MSC + Ox group compared with the MI group.", "output": {"entities": {"gene": [{"text": "MSC", "start": 91, "end": 94}], "disease": [{"text": "infarct", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Significant induction of the hypoxia-inducible angiogenic pathway involving hypoxia-inducible factor-1alpha (HIF-1alpha), HIF-2alpha, vascular endothelial growth factor (VEGF) and its angiogenic receptor VEGFR-2, as well as tumor necrosis factor-alpha (TNF-alpha) with its downstream signaling machinery promoting inflammation and cell death, were found in acute-on-chronic ischemia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 170, "end": 174}], "disease": [{"text": "hypoxia", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Since tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if IRF6 and TGFA interaction contributes to CL/P.", "output": {"entities": {"gene": [{"text": "IRF6", "start": 126, "end": 130}], "disease": [{"text": "tooth agenesis", "start": 6, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "This study was a retrospective analysis of pooled NPI data from two double-blind, placebo-controlled, multicenter 26-week studies of metrifonate that had achieved similar levels of cholinesterase inhibition.", "output": {"entities": {"gene": [{"text": "NPI", "start": 50, "end": 53}], "disease": [{"text": "blind", "start": 75, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Six missense mutations were found in five families with DFNB12, and two nonsense and two frameshift mutations were found in four families with USH1D.", "output": {"entities": {"gene": [{"text": "USH1D", "start": 143, "end": 148}], "disease": [{"text": "DFNB12", "start": 56, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USH1D", "start": 143, "end": 148}, "tail": {"text": "DFNB12", "start": 56, "end": 62}}]}}, "schema": []}
{"input": "Serum chemerin in pregnancy was associated with insulin resistance and triglycerides.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 6, "end": 14}], "disease": [{"text": "insulin resistance", "start": 48, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "METHODS: We examined the AR gene CAG repeat length and measures of weight and body mass index (BMI) in 27 non-syndromic obese and 33 lean controls and for the first time compared with 28 individuals with Prader-Willi syndrome (PWS), a rare obesity-related genetic disorder with natural sex hormone deficits to examine the effects of AR gene CAG repeat length on androgen-mediated response and obesity-related factors relevant to human infertility and reproduction.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 25, "end": 32}], "disease": [{"text": "weight", "start": 67, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Plasma VEGF at high altitude is not elevated in association with AMS or hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 7, "end": 11}], "disease": [{"text": "hypoxia", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Connective tissue growth factor (CTGF) is a downstream mediator of some of the profibrotic effects of TGF-beta1, vascular remodeling, and angiogenesis.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 33, "end": 37}], "disease": [{"text": "vascular remodeling", "start": 113, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In addition, one case with hypertrophic cardiomyopathy and deafness presented the ND1 m. 3395A > G mutation and the tRNA (Ile) m. 4316A > G variation.", "output": {"entities": {"gene": [{"text": "ND1", "start": 82, "end": 85}], "disease": [{"text": "hypertrophic cardiomyopathy", "start": 27, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The TGFB1 Ex5-73C > T variant was positively associated with TGCT (CT/TT versus CC: odds ratio, 1. 73; 95% confidence interval, 1. 01-2. 95; P (trend) = 0. 05); additionally, haplotypes of the assessed TGFB1 SNPs (-509C > T, 327C > T, Ex1-282C > G, and Ex5-73C > T) differed in frequency between cases and controls (all TGCT, P 0. 07; seminoma, P 0. 04; nonseminoma, P 0. 11).", "output": {"entities": {"gene": [{"text": "TGFB1", "start": 4, "end": 9}], "disease": [{"text": "nonseminoma", "start": 354, "end": 365}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the D allele of the ACE gene is associated with microalbuminuria as well as with retinopathy and left ventricular hypertrophy, and seems to be an independent risk factor for target organ damage in essential hypertension.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 35, "end": 43}], "disease": [{"text": "microalbuminuria", "start": 63, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In both murine and human leukemias, p53 inactivation contributed to the selective overexpression of oncogenic miR-92a and miR-19a, and down-regulation of tumor-suppressive miR-17.", "output": {"entities": {"gene": [{"text": "19a", "start": 126, "end": 129}], "disease": [{"text": "leukemias", "start": 25, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "GLP-1 has a direct effect on hepatocytes, by activating genes involved in fatty acid β-oxidation and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 0, "end": 5}], "disease": [{"text": "insulin sensitivity", "start": 101, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "GH1 Promoter SNPs 6, 8 and 9 were associated with height and IGF-1 levels among patients, and SNPs 6 and 11 with height in controls.", "output": {"entities": {"gene": [{"text": "GH1", "start": 0, "end": 3}], "disease": [{"text": "height", "start": 50, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We studied the presence of expanded SCA 8 alleles in 10 sporadic patients with probable MSA-C. We found 1 patient with a heterozygous CTA/CTG repeat expansion in the pathological range.", "output": {"entities": {"gene": [{"text": "CTA", "start": 134, "end": 137}], "disease": [{"text": "sporadic", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we confirmed the association between SIRT2 gene and mood disturbances, although in AD patients.", "output": {"entities": {"gene": [{"text": "SIRT2", "start": 52, "end": 57}], "disease": [{"text": "mood disturbances", "start": 67, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT2", "start": 52, "end": 57}, "tail": {"text": "mood disturbances", "start": 67, "end": 84}}]}}, "schema": []}
{"input": "Involvement of Noxa in cellular apoptotic responses to interferon, double-stranded RNA, and virus infection.", "output": {"entities": {"gene": [{"text": "Noxa", "start": 15, "end": 19}], "disease": [{"text": "virus infection", "start": 92, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas.", "output": {"entities": {"gene": [{"text": "SUFUH", "start": 37, "end": 42}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We report a patient with the adult form of Alexander disease who shows a novel mutation in GFAP.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 91, "end": 95}], "disease": [{"text": "Alexander disease", "start": 43, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 91, "end": 95}, "tail": {"text": "Alexander disease", "start": 43, "end": 60}}]}}, "schema": []}
{"input": "CCRL2-associated chemotactic molecules, chemerin, CCL19 and CCL5, were also detected in cancer tissues and CCL5 mRNA level was correlated with that of CRAM-A and IFN-γ.", "output": {"entities": {"gene": [{"text": "CRAM-A", "start": 151, "end": 157}], "disease": [{"text": "cancer", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "This study determines whether and by what mechanism osthole inhibits invasion in CL1-5 human lung adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "CL1", "start": 81, "end": 84}], "disease": [{"text": "lung adenocarcinoma", "start": 93, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Subsequently, 45 C. difficile isolates which had been collected in 1990 from 33 patients in the same hospital following a significant increase in the number of cases of diarrhea caused by C. difficile were studied by REA, AP-PCR, and PP typing techniques.", "output": {"entities": {"gene": [{"text": "REA", "start": 217, "end": 220}], "disease": [{"text": "diarrhea", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations.", "output": {"entities": {"gene": [{"text": "HAX1", "start": 75, "end": 79}], "disease": [{"text": "CN", "start": 30, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HAX1", "start": 75, "end": 79}, "tail": {"text": "CN", "start": 30, "end": 32}}]}}, "schema": []}
{"input": "DC-FISH defined BCL2/IgH fusion signals at 1p36 in addition to t (14; 18), suggesting that BCL2/IgH fusion at 1p36 was an evolutionary alteration following the primary BCL2/IgH translocation on der (18) in both cases.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 16, "end": 20}], "disease": [{"text": "translocation", "start": 177, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "In addition, a fibrosarcoma line expressing high levels of both MET protein and HGF/NK2 mRNA was transfected with a ribozyme targeting MET, or with a ribozyme targeting MET and another targeting HGF.", "output": {"entities": {"gene": [{"text": "NK2", "start": 84, "end": 87}], "disease": [{"text": "fibrosarcoma", "start": 15, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.", "output": {"entities": {"gene": [{"text": "APCDD1", "start": 0, "end": 6}], "disease": [{"text": "hereditary hypotrichosis simplex", "start": 43, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APCDD1", "start": 0, "end": 6}, "tail": {"text": "hereditary hypotrichosis simplex", "start": 43, "end": 75}}]}}, "schema": []}
{"input": "In three separate single-dose irradiation experiments, lingual ulcers were dramatically reduced after either KGF-expressing vector.", "output": {"entities": {"gene": [{"text": "KGF", "start": 109, "end": 112}], "disease": [{"text": "ulcers", "start": 63, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCNH V270A, ERCC6 M1097V, RAD23B A249V and XPD D312N had the best ability to predict bladder cancer risk.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 97, "end": 101}], "disease": [{"text": "smoking", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Together, our model suggests that disrupted cholinergic system in the brain is involved in airborne Mn-induced memory deficits and loss of HFE function could in part prevent memory loss via a potential up-regulation of anti-oxidant enzymes in the PFC.", "output": {"entities": {"gene": [{"text": "PFC", "start": 247, "end": 250}], "disease": [{"text": "memory loss", "start": 174, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics of mesenchymal tumors of gastrointestinal tract (GIT), 11 cases of KIT/PDGFRA wt GISTs, 12 gastric schwannomas (GSs), 20 solitary fibrous tumors (SFTs), 4 leiomyomas (LMs), 16 leiomyosarcomas (LMSs), 5 synovial sarcomas (SSs), 3 endometrioid stromal sarcomas (ESSs), and 1 ileal inflammatory myofibroblastic tumor (IMT) were investigated for SDHB immunoexpression together with molecular genetic analysis of genes encoding succinate dehydrogenase (SDH).", "output": {"entities": {"gene": [{"text": "SDHB", "start": 43, "end": 47}], "disease": [{"text": "schwannomas", "start": 200, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly.", "output": {"entities": {"gene": [{"text": "PITX1", "start": 43, "end": 48}], "disease": [{"text": "mirror-image polydactyly", "start": 163, "end": 187}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PITX1", "start": 43, "end": 48}, "tail": {"text": "mirror-image polydactyly", "start": 163, "end": 187}}]}}, "schema": []}
{"input": "In the TGF-alpha transgenic mouse model, TGF-alpha protects against nickel-induced acute lung injury, at least in part, by attenuating the inflammatory response, reducing pulmonary edema, and preserving levels of SP-B.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 213, "end": 217}], "disease": [{"text": "pulmonary edema", "start": 171, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Here, we report the cloning of heparanase from four Israeli species of the blind subterranean mole rat (Spalax ehrenbergi superspecies), 85% homologous to the human enzyme.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 31, "end": 41}], "disease": [{"text": "blind", "start": 75, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In addition, reelin protein in the molecular layer of the dentate gyrus was decreased in schizophrenia, bipolar disorder, and depression at the trend level of statistical significance (P = 0. 065).", "output": {"entities": {"gene": [{"text": "reelin", "start": 13, "end": 19}], "disease": [{"text": "depression", "start": 126, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "reelin", "start": 13, "end": 19}, "tail": {"text": "depression", "start": 126, "end": 136}}]}}, "schema": []}
{"input": "Mounting epidemiological evidence supports a role for phosphatase and tensin homologue (PTEN)-T cell leukaemia 1 (Tcl1) signalling deregulation in hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "tensin", "start": 70, "end": 76}], "disease": [{"text": "hepatocarcinogenesis", "start": 147, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Dysregulated bcl-2 expression, secondary to (14; 18) chromosomal translocation, seems to promote the development of follicular lymphomas, and recent findings of bcl-2 protein in several solid tumors suggest that it might contribute to the genesis of many other neoplasms.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 13, "end": 18}], "disease": [{"text": "chromosomal translocation", "start": 53, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "To understand the role of sonic hedgehog (Shh) in normal gastric physiology and neoplastic transformation.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 26, "end": 40}], "disease": [{"text": "neoplastic transformation", "start": 80, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms.", "output": {"entities": {"gene": [{"text": "NIPBL", "start": 148, "end": 153}], "disease": [{"text": "Chromosome 5p13 duplication syndrome", "start": 0, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NIPBL", "start": 148, "end": 153}, "tail": {"text": "Chromosome 5p13 duplication syndrome", "start": 0, "end": 36}}]}}, "schema": []}
{"input": "We find that promoter methylation accounts for half of those CD7 + cases with CEBPA dysregulating abnormalities.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 78, "end": 83}], "disease": [{"text": "abnormalities", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Circumstantial evidence suggests that the MMR defect may be involved in some lymphoid malignancies, although several allelotype analyses have concluded on the low level of microsatellite instability in acute lymphoblastic leukemias.", "output": {"entities": {"gene": [{"text": "MMR", "start": 42, "end": 45}], "disease": [{"text": "microsatellite instability", "start": 172, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.", "output": {"entities": {"gene": [{"text": "CCA", "start": 40, "end": 43}], "disease": [{"text": "Beals-Hecht syndrome", "start": 73, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCA", "start": 40, "end": 43}, "tail": {"text": "Beals-Hecht syndrome", "start": 73, "end": 93}}]}}, "schema": []}
{"input": "After initial screening using for example split signal FISH experiments (as an example for technologies to identify MLL rearrangements), genomic DNA from leukemia patients is analyzed by long-distance-inverse (LDI)-PCR.", "output": {"entities": {"gene": [{"text": "FISH", "start": 55, "end": 59}], "disease": [{"text": "leukemia", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Approximately one-fourth of diffuse large B-cell lymphomas (DLCL) carry the bcl-2 (MBR)/JH rearrangement caused by the t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 76, "end": 81}], "disease": [{"text": "translocation", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Genes with altered expression in the heart due to hyperlipidemia included procollagen type III, cofilin/destrin, tensin, transcription repressor p66, synaptic vesicle protein 2B, Hsp86, chaperonin subunit 5epsilon, metallothionein, glutathione S-transferase, protein kinase C inhibitor, ATP synthase subunit c, creatine kinase, chloride intracellular channel 4, NADH oxidoreductase and dehydrogenase, fibronectin receptor beta chain, CD81 antigen, farnesyltransferase, calreticulin, disintegrin, p120 catenin, Smad7, etc.", "output": {"entities": {"gene": [{"text": "chloride intracellular channel 4", "start": 328, "end": 360}], "disease": [{"text": "hyperlipidemia", "start": 50, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "MRI sensitivity was superior to that of mammography for invasive cancer (77. 4% v 35. 5%; P <. 00005), but not for ductal carcinoma in situ.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "ductal carcinoma in situ", "start": 115, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Artemin expression was correlated with pain and pathomorphological changes (inflammation, perineural inflammatory cell infiltration, neural alterations and fibrosis).", "output": {"entities": {"gene": [{"text": "Artemin", "start": 0, "end": 7}], "disease": [{"text": "fibrosis", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state.", "output": {"entities": {"gene": [{"text": "NBAS", "start": 166, "end": 170}], "disease": [{"text": "SOPH syndrome", "start": 53, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NBAS", "start": 166, "end": 170}, "tail": {"text": "SOPH syndrome", "start": 53, "end": 66}}]}}, "schema": []}
{"input": "PARP inhibition prevented HDM-induced increase in overall cellularity, weight and CD4 (+) T-cell population in spleens of treated mice whereas it increased the T-regulatory cell population.", "output": {"entities": {"gene": [{"text": "PARP", "start": 0, "end": 4}], "disease": [{"text": "weight", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.", "output": {"entities": {"gene": [{"text": "HSP27", "start": 104, "end": 109}], "disease": [{"text": "HCC", "start": 333, "end": 336}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSP27", "start": 104, "end": 109}, "tail": {"text": "HCC", "start": 333, "end": 336}}]}}, "schema": []}
{"input": "These findings point to a potential role for 5-HT1A antagonists in treatment of cocaine abuse.", "output": {"entities": {"gene": [{"text": "5-HT1A", "start": 45, "end": 51}], "disease": [{"text": "cocaine abuse", "start": 80, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT1A", "start": 45, "end": 51}, "tail": {"text": "cocaine abuse", "start": 80, "end": 93}}]}}, "schema": []}
{"input": "A frequent subtype of CRC is defined by a deficiency in the mismatch repair (MMR) pathway, constantly found in combination with microsatellite instability (MSI), which not only contributes to the pathogenesis of a large proportion of CRC, but also controls the response to multiple drugs used to treat CRCs.", "output": {"entities": {"gene": [{"text": "MMR", "start": 77, "end": 80}], "disease": [{"text": "microsatellite instability", "start": 128, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We analyzed protein expression and promoter methylation of MLH1, MSH2 and MSH6 as well as microsatellite instability (MSI) and MMR gene mutations in a set of 96 low-and high-grade astrocytomas.", "output": {"entities": {"gene": [{"text": "MMR", "start": 127, "end": 130}], "disease": [{"text": "microsatellite instability", "start": 90, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Increased NFκB p50/p65 activity and expressions were observed in non proliferative diabetic retinopathy (NPDR) and proliferative diabetic retinopathy (PDR) subjects compared to type 2 diabetes mellitus without retinopathy (DNR) group.", "output": {"entities": {"gene": [{"text": "NFκB", "start": 10, "end": 14}], "disease": [{"text": "proliferative diabetic retinopathy", "start": 69, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of miR‑335 increased the protein expression of PAX6, whereas the upregulation of miR‑335 suppressed its expression in human glioma U251 and U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 155, "end": 158}], "disease": [{"text": "glioma", "start": 139, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Here we study the functional and biophysical characteristics of a PLB mutant associated with human dilated cardiomyopathy (DCM), with a deletion of arginine at position 14 (PLBR14Δ).", "output": {"entities": {"gene": [{"text": "PLB", "start": 66, "end": 69}], "disease": [{"text": "dilated cardiomyopathy", "start": 99, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Subsequent to PDGF-B infusion and in the course of anti-Thy1. 1-induced mesangioproliferative glomerulonephritis, relocalization of YB-1 into the cytoplasm was observed.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 132, "end": 136}], "disease": [{"text": "glomerulonephritis", "start": 94, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Addition of the Melia toosendan extract elicited a marked depigmenting effect on EDN1-stimulated pigmentation after 14 days of treatment, which was accompanied by a significant decrease in eumelanin content.", "output": {"entities": {"gene": [{"text": "EDN1", "start": 81, "end": 85}], "disease": [{"text": "pigmentation", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Moreover, karyotype analysis showed that MDM4 overexpression might lead to aneuploidy or polyploidy.", "output": {"entities": {"gene": [{"text": "MDM4", "start": 41, "end": 45}], "disease": [{"text": "polyploidy", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that there is a phosphodiesterase 3A-ICER positive-feedback loop leading to myocyte apoptosis and ongoing development of heart failure after myocardial infarction.", "output": {"entities": {"gene": [{"text": "ICER", "start": 56, "end": 60}], "disease": [{"text": "myocardial infarction", "start": 160, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ICER", "start": 56, "end": 60}, "tail": {"text": "myocardial infarction", "start": 160, "end": 181}}]}}, "schema": []}
{"input": "Our study experimentally supports a deficient regulation of CBS by SAM as a frequently found mechanism in CBS deficiency, which should be considered not only as a valuable diagnostic tool but also as a potential target for the development of new therapeutic approaches in classical homocystinuria.", "output": {"entities": {"gene": [{"text": "CBS", "start": 60, "end": 63}], "disease": [{"text": "CBS deficiency", "start": 106, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CBS", "start": 60, "end": 63}, "tail": {"text": "CBS deficiency", "start": 106, "end": 120}}]}}, "schema": []}
{"input": "ETV6/AML1 fusion was found in nine out of 16 (56%) cases with a cytogenetically visible chromosome 12 abnormality, but also in nine out of 29 patients (31%) without a chromosome 12 abnormality or patients with failed cytogenetics (four out of 11 patients, 36%), making this the most common cytogenetic abnormality in childhood ALL.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 0, "end": 4}], "disease": [{"text": "cytogenetic abnormality", "start": 290, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Phenylketonuria in U. S. blacks: molecular analysis of the phenylalanine hydroxylase gene.", "output": {"entities": {"gene": [{"text": "phenylalanine hydroxylase", "start": 59, "end": 84}], "disease": [{"text": "Phenylketonuria", "start": 0, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "phenylalanine hydroxylase", "start": 59, "end": 84}, "tail": {"text": "Phenylketonuria", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "Knockdown of individual Notch receptors revealed that Notch1 and Notch2 receptors differentially contributed to GBM cell growth, with Notch2 having a predominant role.", "output": {"entities": {"gene": [{"text": "Notch1", "start": 54, "end": 60}], "disease": [{"text": "GBM", "start": 112, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Notch1", "start": 54, "end": 60}, "tail": {"text": "GBM", "start": 112, "end": 115}}]}}, "schema": []}
{"input": "pathological grades 2/3) showed significantly lower VEGF, HIF-1 and EGFR gene expression levels than the non-responders (patients with insignificant tumour regression, i. e.", "output": {"entities": {"gene": [{"text": "EGFR gene", "start": 68, "end": 77}], "disease": [{"text": "regression", "start": 156, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Indeed, MALDI IMS revealed that the bioconverted metabolite leu-enkephalin-arg also correlated positively with severity of dyskinesia.", "output": {"entities": {"gene": [{"text": "leu-enkephalin", "start": 60, "end": 74}], "disease": [{"text": "dyskinesia", "start": 123, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "leu-enkephalin", "start": 60, "end": 74}, "tail": {"text": "dyskinesia", "start": 123, "end": 133}}]}}, "schema": []}
{"input": "The t (14; 18) chromosomal translocation, resulting in bcl-2-JH (immunoglobulin heavy chain gene joining segment) fusion gene, was detected in 7 (36. 8%) of 19 follicular small cleaved cell lymphomas and 6 (54. 5%) of 11 follicular mixed, small cleaved cell and large cell lymphomas.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 55, "end": 60}], "disease": [{"text": "chromosomal translocation", "start": 15, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Therefore, IL-28B may be useful as a tool for a novel multidisciplinary therapy against cancer, significantly potentiating innate and adaptive antitumor immune responses, especially when co-administrated with CDDP, which is currently the first choice chemotherapeutic agent against various tumors including HNSCCs.", "output": {"entities": {"gene": [{"text": "IL-28B", "start": 11, "end": 17}], "disease": [{"text": "HNSCC", "start": 307, "end": 312}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-28B", "start": 11, "end": 17}, "tail": {"text": "HNSCC", "start": 307, "end": 312}}]}}, "schema": []}
{"input": "OCT ranged from normal to cystoid edema and thickening of the outer retina-choroid complex.", "output": {"entities": {"gene": [{"text": "OCT", "start": 0, "end": 3}], "disease": [{"text": "edema", "start": 34, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The single CD44 gene codes for a large family of cell surface proteins by alternative splicing and severe abnormalities have been observed in the patterns of its expression in many types of human tumors using both protein and RNA-based analyses.", "output": {"entities": {"gene": [{"text": "CD44 gene", "start": 11, "end": 20}], "disease": [{"text": "abnormalities", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Hb Johnstown [beta109 (G11) Val--> Leu]: A high oxygen affinity variant associated with beta0-thalassemia.", "output": {"entities": {"gene": [{"text": "G11", "start": 23, "end": 26}], "disease": [{"text": "thalassemia", "start": 94, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Chemokine levels were determined by ELISA in (1) human bone marrow-derived MSCs stimulated by tumor conditioned media (Tumor CM) of breast tumor cells (MDA-MB-231 and MCF-7) at the end of MSC-to-CAF-conversion process; (2) Tumor CM-derived CAFs, patient CAFs and MSCs stimulated by TNF-α (and IL-1β).", "output": {"entities": {"gene": [{"text": "MSC", "start": 75, "end": 78}], "disease": [{"text": "breast tumor", "start": 132, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Consistent with a role for HIFs in liver fibrosis in cholestatic liver disease, nuclear HIF-1 & #945; protein was present in macrophages, hepatocytes, and fibroblasts in the livers from patients with primary biliary cirrhosis and primary sclerosing cholangitis.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 88, "end": 93}], "disease": [{"text": "sclerosing cholangitis", "start": 238, "end": 260}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIF-1", "start": 88, "end": 93}, "tail": {"text": "sclerosing cholangitis", "start": 238, "end": 260}}]}}, "schema": []}
{"input": "In infants with non-detectable electroretinogram (ERG), along with severe congenital visual dysfunction or blindness and central pigment epithelium atrophy with pigment clumping resembling scarring due to chorioretinitis, LCA due to NMNAT1 mutations should be considered.", "output": {"entities": {"gene": [{"text": "NMNAT1", "start": 233, "end": 239}], "disease": [{"text": "atrophy", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Finally, in HGSNAT gene, we found the splicesite mutation c. 234 + 1G & gt; A that had already been reported as relatively frequent in MPS IIIC patients from countries surrounding the basin of the Mediterranean sea.", "output": {"entities": {"gene": [{"text": "HGSNAT", "start": 12, "end": 18}], "disease": [{"text": "MPS IIIC", "start": 135, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGSNAT", "start": 12, "end": 18}, "tail": {"text": "MPS IIIC", "start": 135, "end": 143}}]}}, "schema": []}
{"input": "We showed that angiogenesis and osteogenesis can be promoted by a VEGF165-GAM that is an appropriate tool to induce bone healing in atrophic nonunions.", "output": {"entities": {"gene": [{"text": "GAM", "start": 74, "end": 77}], "disease": [{"text": "atrophic", "start": 132, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "One of the SNPs, rs8033037, in exon 15 showed a significant correlation (P = 0. 0061) with the adult height, suggesting that FBN1 is one of the' stature genes' of normal individuals.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 125, "end": 129}], "disease": [{"text": "height", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "In HCV-infected liver, CYP2A6, CYP3A4, and CYP2B1 were overexpressed in hepatocytes with hemosiderin pigmentation.", "output": {"entities": {"gene": [{"text": "CYP3A4", "start": 31, "end": 37}], "disease": [{"text": "HCV", "start": 3, "end": 6}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP3A4", "start": 31, "end": 37}, "tail": {"text": "HCV", "start": 3, "end": 6}}]}}, "schema": []}
{"input": "Here we show that, unlike the models mentioned above, a loss of Muc1 in MMTV-c-Neu mice (MMTV-c-Neu/Muc1 (-/-)) altered neither mammary tumor onset nor progression.", "output": {"entities": {"gene": [{"text": "Muc1", "start": 64, "end": 68}], "disease": [{"text": "mammary tumor", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Subject-specific profiles of PSA and serum CLU levels during treatment were characterized using statistical modeling to compute subject-specific summary measures; these measures were analyzed for relationship to survival using proportional hazard regression.", "output": {"entities": {"gene": [{"text": "CLU", "start": 43, "end": 46}], "disease": [{"text": "regression", "start": 247, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to assess the bone quality and metabolism and its correlation with insulin sensitivity in subjects heterozygous for a null mutation in the GHRHR.", "output": {"entities": {"gene": [{"text": "GHRHR", "start": 171, "end": 176}], "disease": [{"text": "insulin sensitivity", "start": 99, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In hippocampus, neurons in the CA1 region are more susceptible to ischemia-induced neuronal death than neurons in the CA3 region, and in response to transient forebrain ischemia a family of calcium-dependent receptors for alpha-latrotoxin is differentially expressed in the two regions.", "output": {"entities": {"gene": [{"text": "CA3", "start": 118, "end": 121}], "disease": [{"text": "ischemia", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Our data provide the first evidence that mer, presumably through activation by its ligand Gas6, participates in regulation of platelet function in vitro and platelet-dependent thrombosis in vivo.", "output": {"entities": {"gene": [{"text": "Gas6", "start": 90, "end": 94}], "disease": [{"text": "thrombosis", "start": 176, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gas6", "start": 90, "end": 94}, "tail": {"text": "thrombosis", "start": 176, "end": 186}}]}}, "schema": []}
{"input": "Our data suggest that the t (6; 14) translocation may be extremely uncommon in FL and that a deregulated expression of cyclin D3, possibly due to epigenetic mechanisms, may be involved in the pathogenesis of high-grade tumors.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 119, "end": 128}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "MCHR1 antagonists might find an additional usage in the treatment of anxiety and depression disorders.", "output": {"entities": {"gene": [{"text": "MCHR1", "start": 0, "end": 5}], "disease": [{"text": "depression", "start": 81, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCHR1", "start": 0, "end": 5}, "tail": {"text": "depression", "start": 81, "end": 91}}]}}, "schema": []}
{"input": "In both cohorts, a significant interaction was observed between HLA-DRB1 * 15 and obesity, regardless of HLA-A * 02 status.", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 105, "end": 110}], "disease": [{"text": "obesity", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "However, VEGF was hardly induced after hypoxia in Tg mice, whereas Wt mice showed an approximate nine-fold increase.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 9, "end": 13}], "disease": [{"text": "hypoxia", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "These associations remained statistically significant for CpG sites in CTNNA2, KLK7, NPY2R, ZNF132 and KCNK17 in 20 non-smoking women after adjustment for tumor stage and age.", "output": {"entities": {"gene": [{"text": "NPY2R", "start": 85, "end": 90}], "disease": [{"text": "smoking", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The secretion of IL-6 by BMSCs was completely inhibited by 10 (-9) mol/L PACAP, which also attenuated the phosphorylation of both p42/44 and p38 mitogen-activated protein kinases (MAPK) as well as nuclear factor-kappaB (NF-kappaB) activation in response to the adhesion of multiple myeloma cells to BMSCs, whereas the inhibition of p42/44 MAPK signaling attenuated PACAP action.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 73, "end": 78}], "disease": [{"text": "adhesion", "start": 261, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "MFG-E8 augmented melanoma cell resistance to apoptosis, triggered an epithelial-to-mesenchymal transition (EMT), and stimulated invasion and immune suppression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 107, "end": 110}], "disease": [{"text": "immune suppression", "start": 141, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.", "output": {"entities": {"gene": [{"text": "semaphorin 3D", "start": 40, "end": 53}], "disease": [{"text": "Hirschsprung disease", "start": 111, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "semaphorin 3D", "start": 40, "end": 53}, "tail": {"text": "Hirschsprung disease", "start": 111, "end": 131}}]}}, "schema": []}
{"input": "Recurrent deletions, including 9p21. 3 (CDKN2A, CKDN2B, and MTAP), 11p13 (CD44), 12p13. 2 (ETV6), and patient-specific abnormalities were identified.", "output": {"entities": {"gene": [{"text": "CD44", "start": 74, "end": 78}], "disease": [{"text": "abnormalities", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Understanding the role of BSP and OPN in tumor progression, altered pathophysiology of bone microenvironment, and tumor metastasis to bone will likely result in development of better diagnostic approaches and therapeutic regimens for osteotropic malignant diseases.", "output": {"entities": {"gene": [{"text": "BSP", "start": 26, "end": 29}], "disease": [{"text": "tumor progression", "start": 41, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Inhibiting estrogen responses in breast cancer cells using a fusion protein encoding estrogen receptor-alpha and the transcriptional repressor PLZF.", "output": {"entities": {"gene": [{"text": "PLZF", "start": 143, "end": 147}], "disease": [{"text": "breast cancer", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.", "output": {"entities": {"gene": [{"text": "ALDH7A1", "start": 126, "end": 133}], "disease": [{"text": "pyridoxine-dependent epilepsy", "start": 63, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALDH7A1", "start": 126, "end": 133}, "tail": {"text": "pyridoxine-dependent epilepsy", "start": 63, "end": 92}}]}}, "schema": []}
{"input": "Recent genetic studies demonstrate that genes encoding the beta-and gamma-subunits of ENaC, a renal cell-specific isoform of the Na +-K +-2Cl-cotransporter, and alpha3-, alpha1-, and beta2-subunits of the Na +-K + pump are localized within quantitative trait loci (QTL) for elevated blood pressure as well as for enhanced heart-to-body weight ratio, proteinuria, phosphate excretion, and stroke latency.", "output": {"entities": {"gene": [{"text": "beta2", "start": 183, "end": 188}], "disease": [{"text": "stroke", "start": 388, "end": 394}]}, "relations": {}}, "schema": []}
{"input": "Multiple Endocrine Neoplasia (MEN) 2A is an inherited disease characterized by the development of medullary thyroid carcinoma (MTC), pheochromocytoma (PHCH) and hyperparathyroidism (HPT).", "output": {"entities": {"gene": [{"text": "HPT", "start": 182, "end": 185}], "disease": [{"text": "pheochromocytoma", "start": 133, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: CYB5A, which has a role in stearyl-CoA-desaturase activity, and RNF10, with an unknown role in weight regulating pathways, associated with adiposity and nominally increased the risk for T2D in American Indians.", "output": {"entities": {"gene": [{"text": "CYB5A", "start": 13, "end": 18}], "disease": [{"text": "weight", "start": 108, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The present study showed that, in a panel of myeloid leukaemia cell lines, basal level of SPHK1 correlated with the degree of kinase inhibition by SKI.", "output": {"entities": {"gene": [{"text": "SPHK1", "start": 90, "end": 95}], "disease": [{"text": "myeloid leukaemia", "start": 45, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Since the role of this gene in senescence is limited, we have investigated the potential role of NDRG2 in human lens epithelial cells (HLECs), a paradigm implicated in age-related cataract.", "output": {"entities": {"gene": [{"text": "NDRG2", "start": 97, "end": 102}], "disease": [{"text": "cataract", "start": 180, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDRG2", "start": 97, "end": 102}, "tail": {"text": "cataract", "start": 180, "end": 188}}]}}, "schema": []}
{"input": "The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 33, "end": 52}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 59, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "This study provides evidence that MUC1 is overexpressed by hypoxia and contributes to hypoxia-driven angiogenesis.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 34, "end": 38}], "disease": [{"text": "hypoxia", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The diagnosis of the post-stroke dementia (PSD) was established according to DSM-IV criteria.", "output": {"entities": {"gene": [{"text": "PSD", "start": 43, "end": 46}], "disease": [{"text": "stroke", "start": 26, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: Heparanase is upregulated and associated with the VEGF expression in hypoxia-induced retinal diseases.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 63, "end": 67}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Nested RT-PCR was employed to detect the mRNA expression of AFP in the peripheral blood, and PCR-ELISA was used to measure the telomerase activity of peripheral blood mononuclear cells (PBMCs) in patients with HCC, benign hepatic tumors, chronic liver diseases and healthy subjects.", "output": {"entities": {"gene": [{"text": "HCC", "start": 210, "end": 213}], "disease": [{"text": "liver diseases", "start": 246, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Since human hepatocellular carcinoma (HCC) cells are under oxidative stress in hypoxic conditions, we tested if CBR1 is upregulated by hypoxia inducible factor (HIF)-1α, helps tumor growth under hypoxia, and renders chemoresistance to cisplatin and doxorubicin in HCC.", "output": {"entities": {"gene": [{"text": "CBR1", "start": 112, "end": 116}], "disease": [{"text": "hypoxia", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "NCAN encodes neurocan, a brain-specific chondroitin sulfate proteoglycan that is thought to influence neuronal adhesion and migration.", "output": {"entities": {"gene": [{"text": "neurocan", "start": 13, "end": 21}], "disease": [{"text": "adhesion", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G & gt; T) in the HBG2 gene promoter.", "output": {"entities": {"gene": [{"text": "HBG2", "start": 133, "end": 137}], "disease": [{"text": "hereditary persistence of fetal hemoglobin", "start": 35, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HBG2", "start": 133, "end": 137}, "tail": {"text": "hereditary persistence of fetal hemoglobin", "start": 35, "end": 77}}]}}, "schema": []}
{"input": "Our findings provide evidence that the massive neurodegeneration in early age of FAD patients could be a consequence of an increased vulnerability of neurons by mitochondrial abnormalities resulting in activation of different apoptotic pathways as a consequence to elevated oxidative stress levels.", "output": {"entities": {"gene": [{"text": "FAD", "start": 81, "end": 84}], "disease": [{"text": "mitochondrial abnormalities", "start": 161, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "RT-PCR and real-time PCR was used to measure the expression of POU5F1P1 relative to the expression of HPRT1 in cell lines, prostatic carcinoma and carcinoma surrounding prostatic tissue.", "output": {"entities": {"gene": [{"text": "HPRT1", "start": 102, "end": 107}], "disease": [{"text": "carcinoma", "start": 133, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Decreased cell growth was not caused by cell death as BEL exposure did not alter nuclear morphology or increase annexin V (apoptotic cell marker) or propidium iodide (necrotic cell marker) staining after 48 h. Decreased growth correlated to a G (1)/G (0) arrest in LNCaP cells and aG (2)/M arrest in PC-3 cells.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 112, "end": 121}], "disease": [{"text": "necrotic", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Whenever Amsterdam criteria are not fulfilled, the currently recommended laboratory screening strategies involve microsatellite instability testing and immunohistochemistry staining of the tumor for the major MMR proteins.", "output": {"entities": {"gene": [{"text": "MMR", "start": 209, "end": 212}], "disease": [{"text": "microsatellite instability", "start": 113, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We also report that breast tumors expressing LMW-E have a higher proportion of CD44 (hi)/CD24 (lo) tumor cells as compared with tumors expressing only full-length cyclin E. In order to explore how LMW-E enriches cancer stem cells in breast tumors, we conducted a protein microarray analysis that identified the histone acetyltransferase (HAT) Hbo1 as a novel cyclin E/CDK2 substrate.", "output": {"entities": {"gene": [{"text": "HAT", "start": 338, "end": 341}], "disease": [{"text": "breast tumors", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "We provide evidence that approximately 27% of ERBB2-positive human breast cancer specimens display high expression of HES1, phospho-S6RP, and GLUT1.", "output": {"entities": {"gene": [{"text": "HES1", "start": 118, "end": 122}], "disease": [{"text": "breast cancer", "start": 67, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HES1", "start": 118, "end": 122}, "tail": {"text": "breast cancer", "start": 67, "end": 80}}]}}, "schema": []}
{"input": "These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing Fabry disease, permit precise heterozygote detection and prenatal diagnosis, and help delineate phenotype-genotype correlations in this disease. & lt;/AB", "output": {"entities": {"gene": [{"text": "alpha-Gal A", "start": 67, "end": 78}], "disease": [{"text": "Fabry disease", "start": 92, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-Gal A", "start": 67, "end": 78}, "tail": {"text": "Fabry disease", "start": 92, "end": 105}}]}}, "schema": []}
{"input": "Alveolar soft part sarcoma and pediatric renal cell carcinoma share a similar chromosomal abnormality, t (X; 17) (p11. 2; q25).", "output": {"entities": {"gene": [{"text": "p11", "start": 114, "end": 117}], "disease": [{"text": "chromosomal abnormality", "start": 78, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Adrenomedullin (ADM) is an angiogenic factor that has also been shown to be a mitogen and a hypoxia survival factor for tumour cells.", "output": {"entities": {"gene": [{"text": "ADM", "start": 16, "end": 19}], "disease": [{"text": "hypoxia", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Differential gene expression of IL-18 and FGF-2 was validated on a subset of samples by quantitative PCR and by IHC, using an independent tissue array of 90 cores of 20 normal ovarian surface epithelia and 70 EOCs representing different grades and pathologies of ovarian disease.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 32, "end": 37}], "disease": [{"text": "ovarian disease", "start": 263, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that CSE-induced ROS generation was mediated through the TLR4/MyD88/TRAF6/c-Src/NADPH oxidase pathway, in turn initiated the activation of MAPKs and NF-kappaB, and ultimately induced COX-2/PGE (2)/IL-6-dependent airway inflammation.", "output": {"entities": {"gene": [{"text": "CSE", "start": 31, "end": 34}], "disease": [{"text": "inflammation", "start": 245, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "An underlying genetic defect was identified in 26 of 43 patients (60. 5%), the majority of which were found in the RPS19 gene (12 of 43, 27. 9%) with 1 patient carrying a mutation in a novel DBA candidate gene, RPL9.", "output": {"entities": {"gene": [{"text": "RPL9", "start": 211, "end": 215}], "disease": [{"text": "DBA", "start": 191, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RPL9", "start": 211, "end": 215}, "tail": {"text": "DBA", "start": 191, "end": 194}}]}}, "schema": []}
{"input": "In STGD1, the scotopic 15-Hz flicker ERG may reveal subtle abnormalities at different sites within the rod system that remain undetected by standard ERG techniques.", "output": {"entities": {"gene": [{"text": "ERG", "start": 37, "end": 40}], "disease": [{"text": "abnormalities", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Allelic losses at 1p36 and 19q13 in gliomas: correlation with histologic classification, definition of a 150-kb minimal deleted region on 1p36, and evaluation of CAMTA1 as a candidate tumor suppressor gene.", "output": {"entities": {"gene": [{"text": "CAMTA1", "start": 162, "end": 168}], "disease": [{"text": "gliomas", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "In a comparison of gene expression profile in unsorted bone marrow (BM) samples from patients with multiple myeloma (MM), acute leukemia, and diffuse large B-cell lymphoma infiltrating the BM, the leading myeloma distinguishing gene was GPRC5D.", "output": {"entities": {"gene": [{"text": "GPRC5D", "start": 237, "end": 243}], "disease": [{"text": "acute leukemia", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Skin and visceral neoplasms were tested for microsatellite instability and immunohistochemical status of mismatch repair (MMR), APC and MYH proteins.", "output": {"entities": {"gene": [{"text": "MMR", "start": 122, "end": 125}], "disease": [{"text": "microsatellite instability", "start": 44, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The most frequent 12p13 translocation is the t (12; 21) (p13; q22), which recombines TEL with the AML1 gene on chromosome 21 and is frequently associated with deletion of the untranslocated TEL allele.", "output": {"entities": {"gene": [{"text": "AML1", "start": 98, "end": 102}], "disease": [{"text": "translocation", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Matriptase-2 mutations have been reported in several patients with iron-refractory iron deficiency anemia.", "output": {"entities": {"gene": [{"text": "Matriptase-2", "start": 0, "end": 12}], "disease": [{"text": "iron-refractory iron deficiency anemia", "start": 67, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Matriptase-2", "start": 0, "end": 12}, "tail": {"text": "iron-refractory iron deficiency anemia", "start": 67, "end": 105}}]}}, "schema": []}
{"input": "Staining of mutant IDH1 was positive in nine neoplastic lesions (3 diffuse astrocytomas, 2 anaplastic astrocytomas, and 1 oligodendroglioma, oligoastrocytoma, anaplastic oligodendroglioma, and glioblastoma); it was negative in all ten non-neoplastic lesions.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 19, "end": 23}], "disease": [{"text": "non-neoplastic", "start": 235, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "We found (i) a statistically significant increase in the frequency of the functional GSTM1 allele in high-grade pediatric astrocytomas (p < 0. 002), (ii) a significant increase in the frequency of the rare GSTP1 variant Val114/Val114 in pediatric astrocytomas (p < 0. 002), and (iii) a significant increase in the frequency of the rare GSTP1 Val114/Val114 genotype among pediatric tumors showing microsatellite instability (MSI) due to defects in mismatch repair (MMR) proteins (p = 0. 003).", "output": {"entities": {"gene": [{"text": "MMR", "start": 464, "end": 467}], "disease": [{"text": "microsatellite instability", "start": 396, "end": 422}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence-in-situ-hybridisation (FISH) was used to determine the BCL2-and BCL6-translocation status of 102 FL and these were compared to morphological and immunohistochemical parameters.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 68, "end": 72}], "disease": [{"text": "translocation", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In this study, we reported the effects of disulfiram, a clinically used anti-alcoholism drug, on tumor invasion suppression, as well as its effects on the activity of MMP-2 and MMP-9 in human osteosarcoma cells (U2OS).", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 177, "end": 182}], "disease": [{"text": "alcoholism", "start": 77, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 177, "end": 182}, "tail": {"text": "alcoholism", "start": 77, "end": 87}}]}}, "schema": []}
{"input": "Given the role of Wnt signalling during chondrogenesis and in maintaining the integrity of the long lived articular chondrocytes, we conclude from our results that the reduced Sfrp1 expression in STR/ort mice not only leads to an increased activation of the Wnt/β-catenin signalling early in life but also renders the articular cartilage prone to premature ageing and to the development of OA.", "output": {"entities": {"gene": [{"text": "STR", "start": 196, "end": 199}], "disease": [{"text": "premature ageing", "start": 347, "end": 363}]}, "relations": {}}, "schema": []}
{"input": "Neurodegeneration in mice resulting from loss of functional selenoprotein P or its receptor apolipoprotein E receptor 2.", "output": {"entities": {"gene": [{"text": "selenoprotein P", "start": 60, "end": 75}], "disease": [{"text": "Neurodegeneration", "start": 0, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "selenoprotein P", "start": 60, "end": 75}, "tail": {"text": "Neurodegeneration", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "Genes for sonic hedgehog (SHH), TNF-receptor-associated-factor 3 (TRAF3), rhoGTP-ase-activating protein 4 (ARHGAP4), deleted in colorectal carcinoma (DCC), cadherins 12 and 13 (CDH12 and 13), teratocarcinoma-derived growth-factor-1 (TDGF1), and transforming growth-factor-beta1 (TGFB1) were underexpressed in all tumors.", "output": {"entities": {"gene": [{"text": "DCC", "start": 150, "end": 153}], "disease": [{"text": "teratocarcinoma", "start": 192, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.", "output": {"entities": {"gene": [{"text": "atp1a3", "start": 58, "end": 64}], "disease": [{"text": "Rapid-onset dystonia-parkinsonism", "start": 0, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "atp1a3", "start": 58, "end": 64}, "tail": {"text": "Rapid-onset dystonia-parkinsonism", "start": 0, "end": 33}}]}}, "schema": []}
{"input": "Because HSP20 proteins were barely detectable in HCT-116 cells (a human colorectal cancer cell line), recombinant adenovirus encoding HSP20 (Ad-HSP20) was used to induce HSP20 overexpression in HCT-116 cells.", "output": {"entities": {"gene": [{"text": "HSP20", "start": 8, "end": 13}], "disease": [{"text": "adenovirus", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of MCAK has been correlated with aggressive forms of carcinoma, resulting in poor prognosis of colorectal cancer.", "output": {"entities": {"gene": [{"text": "MCAK", "start": 18, "end": 22}], "disease": [{"text": "carcinoma", "start": 68, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Although bcl-2 has been shown to be involved in the development of follicular lymphoma via a chromosomal translocation t (14; 18), little is known about its function in non-hematolymphoid neoplasms.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 9, "end": 14}], "disease": [{"text": "chromosomal translocation", "start": 93, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The present study provides evidence that nucleotides 2, 181-2, 190 of the bovine GLUT1 mRNA 3'-UTR forms a complex with brain tumor cytosolic proteins that serves to increase GLUT1 gene expression at the posttranscriptional level.", "output": {"entities": {"gene": [{"text": "UTR", "start": 95, "end": 98}], "disease": [{"text": "brain tumor", "start": 120, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In contrast to VEGF, Ang1 is down regulated by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 15, "end": 19}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that the B7-H1/PD-1 axis contributes to immune suppression in human HCC, with blockade of this pathway carrying important therapeutic implications.", "output": {"entities": {"gene": [{"text": "HCC", "start": 86, "end": 89}], "disease": [{"text": "immune suppression", "start": 58, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The FISH and RT-PCR assays developed in this study can serve as diagnostic adjuncts for the identification of this novel C11orf95-MKL2 fusion oncogene in chondroid lipoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 4, "end": 8}], "disease": [{"text": "chondroid lipoma", "start": 154, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Two single nucleotide polymorphisms in the ET-1 gene (EDN1) have been reported to be associated with blood pressure (BP).", "output": {"entities": {"gene": [{"text": "EDN1", "start": 54, "end": 58}], "disease": [{"text": "blood pressure", "start": 101, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In polymyositis, SSB-positive myonuclei were observed in regenerating fibers and muscle fibers in the vicinity of inflammatory infiltrates, suggesting that the increase of SSB is due to muscle fiber regeneration following necrosis and inflammation.", "output": {"entities": {"gene": [{"text": "SSB", "start": 17, "end": 20}], "disease": [{"text": "polymyositis", "start": 3, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "All FTLD-tau and most cases with increased HNE-positive bands had marked astrocytosis as determined by glial fibrillary acidic protein (GFAP) immunohistochemistry and increased GFAP expression on Western blotting; 2 FTLD cases with tau-negative ubiquitin-immunoreactive inclusions and with increased GFAP expression did not have increased HNE adducts.", "output": {"entities": {"gene": [{"text": "HNE", "start": 43, "end": 46}], "disease": [{"text": "astrocytosis", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "PML/RARα and PLZF/RARα were analyzed for the ability to form high-molecular-weight complexes, the protein stability and the potential to induce a leukemic phenotype in the presence of the interfering peptides.", "output": {"entities": {"gene": [{"text": "PLZF", "start": 13, "end": 17}], "disease": [{"text": "weight", "start": 76, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In a sample of 245 nuclear families (n = 1074) originating from the same geographical region as the families revealing the linkage, SNP and microsatellite association analyses of the four regional candidate genes, GRM3, RELN, SEMA3A and VGF, revealed no significant association to the clinical diagnosis of schizophrenia.", "output": {"entities": {"gene": [{"text": "SEMA3A", "start": 226, "end": 232}], "disease": [{"text": "schizophrenia", "start": 307, "end": 320}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEMA3A", "start": 226, "end": 232}, "tail": {"text": "schizophrenia", "start": 307, "end": 320}}]}}, "schema": []}
{"input": "Both STZ-induced diabetes and insulin-induced hypoglycemia promote a significant increase in TBARS levels and a decrease in glutathione disulfide reductase activity.", "output": {"entities": {"gene": [{"text": "glutathione disulfide reductase", "start": 124, "end": 155}], "disease": [{"text": "hypoglycemia", "start": 46, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glutathione disulfide reductase", "start": 124, "end": 155}, "tail": {"text": "hypoglycemia", "start": 46, "end": 58}}]}}, "schema": []}
{"input": "We have previously reported findings on GH1 gene mutations in 28 russian patients with severe congenital IGHD (-3. 22 +/-1. 2 height sDs at the age of 1yr); five heterozygous dominant negative splice site mutations in intron 2, intron 3, and exon 4 of the GH1 gene were identified in 32. 1% of the cohort.", "output": {"entities": {"gene": [{"text": "GH1 gene", "start": 40, "end": 48}], "disease": [{"text": "height", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The epithelial-mesenchymal transition (EMT) is known to be associated with tumor progression, invasion and metastasis in colorectal cancer (CRC).", "output": {"entities": {"gene": [{"text": "EMT", "start": 39, "end": 42}], "disease": [{"text": "tumor progression", "start": 75, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Because imatinib could also inhibit the activity of KIT, a 145-kD transmembrane glycoprotein, and because gastrointestinal stromal tumors (GISTs), the most common mesenchymal tumors of the digestive tract, are characterized by expression of a gain-of-function mutation in KIT, imatinib was used in therapeutic trials of GISTs beginning in 1999.", "output": {"entities": {"gene": [{"text": "transmembrane glycoprotein", "start": 66, "end": 92}], "disease": [{"text": "gastrointestinal stromal tumors", "start": 106, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Familial and sporadic cases affected bymutations in KVLQT1, HERG, and KCNE1 can nowbe genetically screened to identify individuals at risk of developing this disorder.", "output": {"entities": {"gene": [{"text": "KVLQT1", "start": 52, "end": 58}], "disease": [{"text": "sporadic", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "NAC1, a member of the POZ/BTB transcription factor family, exhibited increased mRNA levels in the nucleus accumbens of the rat weeks after cocaine use.", "output": {"entities": {"gene": [{"text": "NAC1", "start": 0, "end": 4}], "disease": [{"text": "cocaine use", "start": 139, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NAC1", "start": 0, "end": 4}, "tail": {"text": "cocaine use", "start": 139, "end": 150}}]}}, "schema": []}
{"input": "The FAK-Y861 and/or-Y925 phosphorylations led to a subsequently FAK translocation out of lipid domains.", "output": {"entities": {"gene": [{"text": "FAK", "start": 4, "end": 7}], "disease": [{"text": "translocation", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe a CML patient in lymphoid blast crisis associated with a new chromosomal abnormality identified, dic (7; 12) (p12. 21; p12. 2) and i (12) (q10) using classical cytogenetics and spectral karyotype analysis.", "output": {"entities": {"gene": [{"text": "q10", "start": 157, "end": 160}], "disease": [{"text": "blast crisis", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In view of the clinical similarities between polyarticular osteoarthritis (POA) with metacarpophalangeal (MCP) joint involvement and the arthropathy that occurs in hereditary haemochromatosis (HH), it was hypothesized that osteochondral damage in both disorders may be due to localized iron overload.", "output": {"entities": {"gene": [{"text": "MCP", "start": 106, "end": 109}], "disease": [{"text": "iron overload", "start": 286, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Inhibitory effect of prolactin on the development of fatty liver induced by ACTH in thrat.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 76, "end": 80}], "disease": [{"text": "fatty liver", "start": 53, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 76, "end": 80}, "tail": {"text": "fatty liver", "start": 53, "end": 64}}]}}, "schema": []}
{"input": "The somatic hit inactivating the second allele of the APC gene is located in the mutation cluster region of the gene; this is not a random event since it depends on the position of the germline mutation.", "output": {"entities": {"gene": [{"text": "APC gene", "start": 54, "end": 62}], "disease": [{"text": "hit", "start": 12, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Carbon monoxide ameliorates chronic murine colitis through a heme oxygenase 1-dependent pathway.", "output": {"entities": {"gene": [{"text": "heme oxygenase 1", "start": 61, "end": 77}], "disease": [{"text": "colitis", "start": 43, "end": 50}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "heme oxygenase 1", "start": 61, "end": 77}, "tail": {"text": "colitis", "start": 43, "end": 50}}]}}, "schema": []}
{"input": "Taken together, our study implicates BCL2L1 and DLC1 as potential druggable targets for specific subsets of GC cases.", "output": {"entities": {"gene": [{"text": "BCL2L1", "start": 37, "end": 43}], "disease": [{"text": "GC", "start": 108, "end": 110}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "BCL2L1", "start": 37, "end": 43}, "tail": {"text": "GC", "start": 108, "end": 110}}]}}, "schema": []}
{"input": "Four strains demonstrated RDS that was less pronounced than in most AT cells: one was from a patient with Nijmegen breakage syndrome, one was from a patient without ataxia but with choreiform movement disorder, telangiectasia, and elevated concentrations of alpha-fetoprotein in the blood, and two were from AT patients.", "output": {"entities": {"gene": [{"text": "alpha-fetoprotein", "start": 258, "end": 275}], "disease": [{"text": "telangiectasia", "start": 211, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "A third FA-derived cell line, FA-AML1, carried a translocation with ectopic localization of 3q26 including EVI1.", "output": {"entities": {"gene": [{"text": "AML1", "start": 33, "end": 37}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The odds ratio (OR) for being a carrier of FTO rs9939609 according to (1) one unit alteration in z-scores for BMI, height and LBM at given ages and (2) longitudinal changes in BMI and height z-scores were assessed by logistic regression.", "output": {"entities": {"gene": [{"text": "FTO", "start": 43, "end": 46}], "disease": [{"text": "height", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "A patient with treatment-related acute myeloid leukemia presented a t (3; 11) (p11; p15) as the only cytogenetic abnormality.", "output": {"entities": {"gene": [{"text": "p11", "start": 79, "end": 82}], "disease": [{"text": "cytogenetic abnormality", "start": 101, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Samples of venous blood were collected from 1634 patients with stroke, including cerebral thrombosis, lacunar cerebral infarction, and cerebral hemorrhage confirmed by CT or MRI, and sex-, and age-matched 1171 controls without cerebrovascular diseases.", "output": {"entities": {"gene": [{"text": "MRI", "start": 174, "end": 177}], "disease": [{"text": "cerebrovascular diseases", "start": 227, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Four genes with a major role in HDL-C and TG metabolism APOA1, APOC2, APOC-III and LPL were sequenced in 2385 participants with mixed dyslipidemia in a randomized, double-blind, active-controlled study comparing therapy with FA alone, in combination with statins, or statin alone.", "output": {"entities": {"gene": [{"text": "APOC2", "start": 63, "end": 68}], "disease": [{"text": "blind", "start": 171, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "We investigated the relevant genomic region of the keratin 8 gene in 80 patients with familial pancreatitis without a cationic trypsinogen (PRSS1) gene mutation from 52 different families, 21 patients with familial hereditary pancreatitis and a PRSS1 mutation from 20 different families, 126 patients with sporadic pancreatitis without a PRSS1 mutation, 61 patients with alcoholic pancreatitis and 271 controls by direct DNA sequencing.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 140, "end": 145}], "disease": [{"text": "sporadic", "start": 306, "end": 314}]}, "relations": {}}, "schema": []}
{"input": "Adding MRI to annual mammography screening improves early breast cancer detection in women with familial risk or BRCA1/2 mutation, but breast cancer specific metastasis free survival (MFS) remains unknown.", "output": {"entities": {"gene": [{"text": "MRI", "start": 7, "end": 10}], "disease": [{"text": "breast cancer", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "No other statistically significant difference was found for any of the HLA antigens examined either in HCC patients as a whole group or in the subgroups according to sex, course of illness, AFP status, alcohol consumption, liver cirrhosis or blood groups.", "output": {"entities": {"gene": [{"text": "AFP", "start": 190, "end": 193}], "disease": [{"text": "alcohol consumption", "start": 202, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Genome-wide association study using microsatellite markers suggested SLC23A3, CNPPD1, and FAM134A genes as candidates for schizophrenia susceptibility in the Japanese population.", "output": {"entities": {"gene": [{"text": "CNPPD1", "start": 78, "end": 84}], "disease": [{"text": "schizophrenia", "start": 122, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNPPD1", "start": 78, "end": 84}, "tail": {"text": "schizophrenia", "start": 122, "end": 135}}]}}, "schema": []}
{"input": "Angiogenesis is induced by soluble factors such as vascular endothelial growth factor (VEGF) released from tumor cells in hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 87, "end": 91}], "disease": [{"text": "hypoxia", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "We report the effects of uroguanylin-mediated activation of the GC-C/cGMP pathway in vitro on extracellular cGMP transport and in vivo in rat models of inflammation-and stress-induced visceral hypersensitivity.", "output": {"entities": {"gene": [{"text": "uroguanylin", "start": 25, "end": 36}], "disease": [{"text": "hypersensitivity", "start": 193, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 89, "end": 94}], "disease": [{"text": "infertility", "start": 13, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "We found that breast tumors which were both estrogen receptor-negative and lymph node positive were associated with high YB-1 expression (P = 0. 017).", "output": {"entities": {"gene": [{"text": "YB-1", "start": 121, "end": 125}], "disease": [{"text": "breast tumors", "start": 14, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "YB-1", "start": 121, "end": 125}, "tail": {"text": "breast tumors", "start": 14, "end": 27}}]}}, "schema": []}
{"input": "Using array-comparative genomic hybridization, we found a complex karyotype without the characteristic chromosomal aberrations accompanying cyclin D1 translocation in mantle cell lymphoma; instead, there was monoallelic deletion of AKT interacting protein and glycogen synthase kinase-3 β genes, both involved in the AKT/glycogen synthase kinase-3 β cascade-controlling nuclear levels of cyclin D1.", "output": {"entities": {"gene": [{"text": "AKT", "start": 232, "end": 235}], "disease": [{"text": "translocation", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We show that (i) in the choroid plexus carcinoma, the germline mutation was detected in a homozygous state due to copy-neutral LOH/uniparental disomy, (ii) in the secondary AML, a complex karyotype led to loss of the wild-type TP53 allele, (iii) in the Wilms tumor, the somatic mutation c. 814G > A led to compound heterozygosity.", "output": {"entities": {"gene": [{"text": "TP53", "start": 227, "end": 231}], "disease": [{"text": "uniparental disomy", "start": 131, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "These strategies facilitate comprehensive analysis of ABCC6 for mutations in PXE.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 54, "end": 59}], "disease": [{"text": "PXE", "start": 77, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 54, "end": 59}, "tail": {"text": "PXE", "start": 77, "end": 80}}]}}, "schema": []}
{"input": "Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of human malignant autosomal recessive osteopetrosis (ARO), a rare inherited bone disease with increased bone density owing to a failure in bone resorption.", "output": {"entities": {"gene": [{"text": "proton pump", "start": 69, "end": 80}], "disease": [{"text": "bone density", "start": 230, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "These results provide evidence that IGF pathway polymorphisms have functional effects on growth and central obesity and indicate that genotype-phenotype relationships are ethnic specific.", "output": {"entities": {"gene": [{"text": "IGF", "start": 36, "end": 39}], "disease": [{"text": "central obesity", "start": 100, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We studied gene-environment interactions between CETP SNPs and dietary fat intake, adherence to the Mediterranean diet, alcohol consumption, smoking, obesity, and diabetes on HDL-C in 4, 210 high cardiovascular risk subjects from a Mediterranean population.", "output": {"entities": {"gene": [{"text": "CETP", "start": 49, "end": 53}], "disease": [{"text": "alcohol consumption", "start": 120, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Insulin increased protein kinase B/Akt translocation to the the plasma membrane about twofold [(p < 0. 03) in non-diabetic cells but this effect was impaired in diabetic cells (approximately 30%; p > 0. 1)].", "output": {"entities": {"gene": [{"text": "protein kinase B", "start": 18, "end": 34}], "disease": [{"text": "translocation", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Intracellular accumulation of HIF1alpha protein was detected as early as 30 min of post-hypoxia, followed by the increase of mRNA for vascular endothelial growth factor (VEGF) and nuclear accumulation of the ID1-2 transcription factors by 4 h. In hypoxic SH-SY5Y NB cells, real-time PCR analysis showed that the genes involved in maintenance of cell-cell and cell-matrix interactions (i. e.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 170, "end": 174}], "disease": [{"text": "hypoxic", "start": 247, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "We recently identified intriguing alterations in the FGF pathway in a novel model of bladder carcinoma that consists of a parental cell line (TSU-Pr1/T24) and two sublines with increasing metastatic potential (TSU-Pr1-B1 and TSU-Pr1-B2), which were derived successively through in vivo cycling.", "output": {"entities": {"gene": [{"text": "Pr1", "start": 146, "end": 149}], "disease": [{"text": "bladder carcinoma", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Cblb-deficiency was unique among these four in precipitating rapid clinical autoimmune disease when combined with Aire-deficiency, resulting in autoimmune exocrine pancreatitis with median age of survival of only 25 d. Massive lymphocytic infiltration selectively destroyed most of the exocrine acinar cells of the pancreas and submandibular salivary gland, and CD4 (+) and CD8 (+) subsets were necessary and sufficient to transfer the disease.", "output": {"entities": {"gene": [{"text": "CD4", "start": 362, "end": 365}], "disease": [{"text": "lymphocytic infiltration", "start": 227, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "PEITC treatment also significantly reduced the hypoxia-induced secretion of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 76, "end": 80}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "With in situ hybridization and Southern blot analysis of somatic cell hybrid DNA, the human insulin receptor gene was mapped to the distal short arm of chromosome 19 (bands p13. 2----p13. 3), a site involved in a nonrandom translocation in pre-B-cell acute leukemia.", "output": {"entities": {"gene": [{"text": "insulin receptor gene", "start": 92, "end": 113}], "disease": [{"text": "translocation", "start": 223, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "and Gemini 0097 [1alpha, 25-dihydroxy-20R-21 (3-trideuteromethyl-3-hydroxy-4, 4, 4-trideuterobutyl)-23-yne-26, 27-hexafluoro-19-nor-cholecalciferol] administration inhibited by 60% the NMU-induced mammary tumor burden compared with the NMU-treated control group, but these compounds were devoid of hypercalcemia toxicity.", "output": {"entities": {"gene": [{"text": "NMU", "start": 185, "end": 188}], "disease": [{"text": "hypercalcemia", "start": 298, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "Of the remaining 127 index patients, 40 (31%) had 6q24 abnormalities, 43 (34%) had mutations in KCNJ11, 31 (24%) had mutations in ABCC8, and 13 (10%) had mutations in INS.", "output": {"entities": {"gene": [{"text": "ABCC8", "start": 130, "end": 135}], "disease": [{"text": "abnormalities", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The telomere length in 34 leukemia patients versus 20 normal controls was compared by using Flow-FISH, and the relationship between telomere length and therapeutic effect and prognosis was analyzed preliminarily.", "output": {"entities": {"gene": [{"text": "FISH", "start": 97, "end": 101}], "disease": [{"text": "leukemia", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemically, the cyst-lining epithelia were almost negative for mucin core protein (MUC) 1, MUC2, and MUC6, and showed only focal staining for MUC5AC.", "output": {"entities": {"gene": [{"text": "MUC2", "start": 102, "end": 106}], "disease": [{"text": "cyst", "start": 27, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Inflammation-mediated genomic instability: roles of activation-induced cytidine deaminase in carcinogenesis.", "output": {"entities": {"gene": [{"text": "activation-induced cytidine deaminase", "start": 52, "end": 89}], "disease": [{"text": "genomic instability", "start": 22, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "A single nucleotide polymorphism (SNP) in the Taq1A site near the DRD2 gene has been associated in several studies with smoking behaviour.", "output": {"entities": {"gene": [{"text": "DRD2 gene", "start": 66, "end": 75}], "disease": [{"text": "smoking", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Thus, AF9Q34 encodes a novel RASGAP gene that appears to be deregulated as a result of the translocation.", "output": {"entities": {"gene": [{"text": "AF9Q34", "start": 6, "end": 12}], "disease": [{"text": "translocation", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In line with the significant correlations found at mRNA level, elevated Cx43 protein levels were linked with significantly improved breast cancer outcome, offering Cx43 protein detection as an independent prognostic marker stronger than vascular invasion or necrosis.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 72, "end": 76}], "disease": [{"text": "necrosis", "start": 258, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.", "output": {"entities": {"gene": [{"text": "Paraplegin", "start": 0, "end": 10}], "disease": [{"text": "sporadic", "start": 24, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Our observations suggest that PIK3CA and AKT1 are CS susceptibility genes.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 41, "end": 45}], "disease": [{"text": "CS", "start": 50, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AKT1", "start": 41, "end": 45}, "tail": {"text": "CS", "start": 50, "end": 52}}]}}, "schema": []}
{"input": "Taken together, these data suggest that EWS/FLI and NR0B1 physically interact, coordinately modulate gene expression, and mediate the transformed phenotype of Ewing' s sarcoma.", "output": {"entities": {"gene": [{"text": "NR0B1", "start": 52, "end": 57}], "disease": [{"text": "sarcoma", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In this study, 1, 430 blood samples from either symptomatic children or asymptomatic carriers were collected from 14 sites throughout the country between 1999 and 2003 for the analysis of dihydrofolate reductase (dhfr) sequence.", "output": {"entities": {"gene": [{"text": "dihydrofolate reductase", "start": 188, "end": 211}], "disease": [{"text": "asymptomatic", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Therefore the FISH assay in tissue was found to be very sensitive in detection of IGH/BCL2 translocation and was helpful in diagnosis of follicular lymphoma or in clarification of the cell origin of lymphoma when karyotype analysis was not available.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 86, "end": 90}], "disease": [{"text": "translocation", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected.", "output": {"entities": {"gene": [{"text": "PDHA1 gene", "start": 30, "end": 40}], "disease": [{"text": "asymptomatic", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate whether reappearance of polymerase chain reaction (PCR) positivity for the Bcl-2/IgH translocation following a phase of molecular remission in autografted follicular lymphoma (FL) patients is always associated with reappearance of the original neoplastic clone.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 113, "end": 118}], "disease": [{"text": "translocation", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "It is in this context that we previously demonstrated that under hypoxia, bcl-2 protein promotes HIF-1/Vascular Endothelial Growth Factor (VEGF)-mediated tumour angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 139, "end": 143}], "disease": [{"text": "hypoxia", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "However, BIM deletion polymorphism, line of treatment, EGFR genotype, and smoking were not predictive of PFS for EGFR TKIs.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 55, "end": 59}], "disease": [{"text": "smoking", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In cases of TGCT and PVNS carrying this translocation, it is present in a minority of the intratumoral cells, leading to CSF1 expression only in these cells, whereas the majority of cells express CSF1R but not CSF1, suggesting a tumor-landscaping effect with aberrant CSF1 expression in the neoplastic cells, leading to the abnormal accumulation of nonneoplastic cells that form a tumorous mass.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 121, "end": 125}], "disease": [{"text": "translocation", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Antisense oligonucleotides (ASs) to proliferating cell nuclear antigen (PCNA) and Cdc2 kinase (Cdc2 k) can arrest cell cycle progression and inhibit neointimal hyperplasia.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 72, "end": 76}], "disease": [{"text": "hyperplasia", "start": 160, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Elevation of SSAO activity is observed in atherosclerosis, diabetes mellitus and obesity.", "output": {"entities": {"gene": [{"text": "SSAO", "start": 13, "end": 17}], "disease": [{"text": "diabetes mellitus", "start": 59, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SSAO", "start": 13, "end": 17}, "tail": {"text": "diabetes mellitus", "start": 59, "end": 76}}]}}, "schema": []}
{"input": "Furthermore, differences were observed in genes contributing to fatty acid, cholesterol and triglyceride metabolism (FATP2, ELOVL6, PNPLA3, SREBF1) and in genes involved in regulating lipolysis (ANGPTL4) between the insulin-resistant and-sensitive subjects especially during hyperinsulinemia.", "output": {"entities": {"gene": [{"text": "FATP2", "start": 117, "end": 122}], "disease": [{"text": "hyperinsulinemia", "start": 275, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "Expression of the bcl-2 oncogene product and chromosomal translocation t (14; 18) in Hodgkin' s disease.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 18, "end": 23}], "disease": [{"text": "chromosomal translocation", "start": 45, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The Schizophrenia and Bipolar Disorder associated BRD1 gene is regulated upon chronic restraint stress.", "output": {"entities": {"gene": [{"text": "BRD1", "start": 50, "end": 54}], "disease": [{"text": "Bipolar Disorder", "start": 22, "end": 38}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRD1", "start": 50, "end": 54}, "tail": {"text": "Bipolar Disorder", "start": 22, "end": 38}}]}}, "schema": []}
{"input": "Eighty-six regions from 16 MSI-positive sporadic colorectal carcinomas were examined for mutations in repeat nucleotide sequences of the tumour suppressor genes transforming growth factor beta type II receptor (TGFBRII), insulin-like growth factor II receptor (IGFIIR), and BAX, and the mismatch repair genes MSH3 and MSH6.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 318, "end": 322}], "disease": [{"text": "sporadic", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Susceptibility to ankylosing spondylitis: evidence for the role of ERAP1, TGFb1 and TLR9 gene polymorphisms.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 67, "end": 72}], "disease": [{"text": "spondylitis", "start": 29, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The importance of PAX3 during human embryonal development is readily seen in Waardenburg patients, who present a dominant inherited syndrome consisting mainly of craniofacial abnormalities, pigmentation deficiencies, and deafness, consecutive to PAX3 mutations.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 18, "end": 22}], "disease": [{"text": "pigmentation", "start": 190, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Although allelic heterogeneity at the BTK locus may partly explain clinical variability in families with XLA, compensatory and redundant mechanisms involved in B-cell development must play a role in the phenotypic diversity of the disease.", "output": {"entities": {"gene": [{"text": "BTK", "start": 38, "end": 41}], "disease": [{"text": "XLA", "start": 105, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BTK", "start": 38, "end": 41}, "tail": {"text": "XLA", "start": 105, "end": 108}}]}}, "schema": []}
{"input": "Taking into account that another metal ions transporter gene, SLC39A3, is associated to bipolar disorder, our findings reveal a role for brain metal homeostasis in psychosis.", "output": {"entities": {"gene": [{"text": "SLC39A3", "start": 62, "end": 69}], "disease": [{"text": "psychosis", "start": 164, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC39A3", "start": 62, "end": 69}, "tail": {"text": "psychosis", "start": 164, "end": 173}}]}}, "schema": []}
{"input": "The prognosis of AML-MRC patients with myelodysplastic syndrome (MDS)-related cytogenetics sole was similar to those with history of MDS or myelodysplastic/myeloproliferative neoplasm (MDS/MPN).", "output": {"entities": {"gene": [{"text": "MRC", "start": 21, "end": 24}], "disease": [{"text": "myelodysplastic/myeloproliferative neoplasm", "start": 140, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "T-cell prolymphocytic leukemia (T-PLL) is an aggressive post-thymic T-cell malignancy characterized by the recurrent inv (14) (q11q32)/t (14; 14) (q11; q32) or t (X; 14) (q28; q11) leading to activation of either the TCL1 or MTCP1 gene, respectively.", "output": {"entities": {"gene": [{"text": "MTCP1 gene", "start": 225, "end": 235}], "disease": [{"text": "malignancy", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We phenotyped Pet-1 KO mice for fear conditioning and extinction, and on a battery of assays for anxiety-and depression-related behaviors.", "output": {"entities": {"gene": [{"text": "Pet-1", "start": 14, "end": 19}], "disease": [{"text": "depression", "start": 109, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pet-1", "start": 14, "end": 19}, "tail": {"text": "depression", "start": 109, "end": 119}}]}}, "schema": []}
{"input": "The IRS1 T allele was associated with lower insulin resistance in both the SOS and the MDC studies.", "output": {"entities": {"gene": [{"text": "MDC", "start": 87, "end": 90}], "disease": [{"text": "insulin resistance", "start": 44, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In a London clinic cohort, the HREM was the most common mutation in familial ALS +/-FTD: C9ORF72 29/112 (26%), SOD1 27/112 (24%), TARDBP 1/112 (1%) and FUS 4/112 (4%) and detected in 13/216 (6%) of unselected sporadic ALS cases but was rare in controls (3/856, 0. 3%).", "output": {"entities": {"gene": [{"text": "FUS", "start": 152, "end": 155}], "disease": [{"text": "sporadic", "start": 209, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "This result, combined with the mapping of the HOXA locus to human chromosome 7p15, suggested that one of the HOXA genes might be involved in the t (7; 11) (p15; p15) translocation found in some human myeloid leukaemia patients.", "output": {"entities": {"gene": [{"text": "HOXA", "start": 46, "end": 50}], "disease": [{"text": "myeloid leukaemia", "start": 200, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "When gene expression was analyzed on a custom cDNA array that contained 2304 known genes, infection with ARHI adenovirus up-regulated 15 genes relative to control cells infected with LacZ adenovirus.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 105, "end": 109}], "disease": [{"text": "adenovirus", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "To investigate fibrodysplasia ossificans progressiva (FOP), a rare genetic disease leading to extraskeletal bone formation through endochondral ossification, gene-corrected (rescued) iPSC clones (resFOP-iPSC) were generated from patient-derived iPSC (FOP-iPSC) as genetically matched controls, and the stepwise induction method of mesenchymal stromal cells (iMSCs) through neural crest cell (NCC) lineage was used to recapitulate the disease phenotype.", "output": {"entities": {"gene": [{"text": "NCC", "start": 392, "end": 395}], "disease": [{"text": "fibrodysplasia ossificans progressiva", "start": 15, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that FASN inhibition with orlistat significantly reduces the number of spontaneous mediastinal lymph node metastases following the implantation of B16-F10 mouse melanoma cells in the peritoneal cavity of C57BL/6 mice.", "output": {"entities": {"gene": [{"text": "F10", "start": 176, "end": 179}], "disease": [{"text": "lymph node metastases", "start": 120, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Factors other than mild impairment of CYP21 contribute to the variability of the clinical phenotype in hyperandrogenic states including acne.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 38, "end": 43}], "disease": [{"text": "mild", "start": 19, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "In contrast, LVDP recovery and infarct size were unchanged in Tie2-CYP2J2 Tr and Tie2-sEH Tr hearts.", "output": {"entities": {"gene": [{"text": "Tie2", "start": 62, "end": 66}], "disease": [{"text": "infarct", "start": 31, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "These findings identify COL11A1 as a locus for fibrochondrogenesis and indicate that there might be phenotypic manifestations among carriers.", "output": {"entities": {"gene": [{"text": "COL11A1", "start": 24, "end": 31}], "disease": [{"text": "fibrochondrogenesis", "start": 47, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL11A1", "start": 24, "end": 31}, "tail": {"text": "fibrochondrogenesis", "start": 47, "end": 66}}]}}, "schema": []}
{"input": "These results suggested that hMSH2 and hPMS1 may be useful as CD4 + helper T cell antigens for immunotherapy of pancreatic cancer patients and that serum IgG antibodies may be useful for diagnosis of patients with pancreatic ductal adenocarcinoma and DM/PM.", "output": {"entities": {"gene": [{"text": "CD4", "start": 62, "end": 65}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 214, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry analysis demonstrated that ginkgolide B diminished P-selectin, PF4, RANTES, and CD40L expression in aortic plaque in ApoE (-/-) mice.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 101, "end": 106}], "disease": [{"text": "plaque", "start": 128, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Ucn2 has marked and beneficial hemodynamic, hormonal, and renal effects in experimental HF.", "output": {"entities": {"gene": [{"text": "Ucn2", "start": 0, "end": 4}], "disease": [{"text": "HF", "start": 88, "end": 90}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Ucn2", "start": 0, "end": 4}, "tail": {"text": "HF", "start": 88, "end": 90}}]}}, "schema": []}
{"input": "OBJECTIVE: The objective of the study was to determine the frequency and nature of LHX3 mutations in patients with isolated GH deficiency or combined pituitary hormone deficiency (CPHD) and characterize the molecular consequences of mutations.", "output": {"entities": {"gene": [{"text": "LHX3", "start": 83, "end": 87}], "disease": [{"text": "pituitary hormone deficiency", "start": 150, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "The data show that in CRF (a) the mRNA of hepatic lipase is downregulated, and hepatic lipase production, activity and release are impaired, (b) that this is due to the state of secondary hyperparathyroidism of CRF since both acute and chronic excess of PTH were associated with these abnormalities, (c) and that prevention of excess PTH by PTX of CRF rats or blocking the effect of PTH by treatment with verapamil corrected the derangement in hepatic lipase metabolism.", "output": {"entities": {"gene": [{"text": "hepatic lipase", "start": 42, "end": 56}], "disease": [{"text": "abnormalities", "start": 285, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "While no specific mutations in BRCA1/2 have been reported in malignant peripheral nerve sheath tumors (MPNSTs), MPNST cells could be effectively targeted with a PARP inhibitor to drive cells to synthetic lethality due to their complex karyotype and high level of inherent genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 31, "end": 36}], "disease": [{"text": "genomic instability", "start": 272, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "Variant phenotypes associated with PRRT2 mutations, found in 36. 0% of the affected cases, included febrile convulsions, epilepsy, infantile non-convulsive seizures (INCS) and nocturnal convulsions (NC).", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 35, "end": 40}], "disease": [{"text": "convulsive seizures", "start": 145, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Three different erythropoietic porphyrias (EP) have been described: erythropoietic protoporphyria (EPP, MIM 177000) the most frequent, congenital erythropoietic porphyria (CEP, MIM 263700), and the very rare hepatoerythropoietic porphyria (HEP, MIM 176100).", "output": {"entities": {"gene": [{"text": "MIM", "start": 104, "end": 107}], "disease": [{"text": "erythropoietic protoporphyria", "start": 68, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Mutation in SULT2B1 leads to an ARCI phenotype via increased proliferation of human keratinocytes, thickening of epithelial layers, and altered epidermal cholesterol metabolism.", "output": {"entities": {"gene": [{"text": "SULT2B1", "start": 12, "end": 19}], "disease": [{"text": "ARCI", "start": 32, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SULT2B1", "start": 12, "end": 19}, "tail": {"text": "ARCI", "start": 32, "end": 36}}]}}, "schema": []}
{"input": "Participants with the GSTM1 null (GSTM1-0) genotype and > or = 20 pack-years of smoking had the highest mean levels of CRP, fibrinogen, von Willebrand factor, ICAM-1, and VCAM-1 and lowest mean levels of albumin compared to other combinations of genotype and smoking.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 22, "end": 27}], "disease": [{"text": "fibrinogen", "start": 124, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Prior work has tried to correlate the polymorphisms with post-stroke depression (PSD), the results nevertheless remain indefinitive.", "output": {"entities": {"gene": [{"text": "PSD", "start": 81, "end": 84}], "disease": [{"text": "stroke", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In primary ovarian cancers, CGIs of GPR150 (in 4 of 15 cancers), ITGA8 (2/15), PRTFDC1 (1/15), and HOXD11 (1/15) were methylated.", "output": {"entities": {"gene": [{"text": "PRTFDC1", "start": 79, "end": 86}], "disease": [{"text": "ovarian cancers", "start": 11, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRTFDC1", "start": 79, "end": 86}, "tail": {"text": "ovarian cancers", "start": 11, "end": 26}}]}}, "schema": []}
{"input": "To present, however, the possible involvement of Cbl-b in multiple sclerosis (MS), an autoimmune demyelinating disease mediated by T-helper 1 (Th1) cells is still unclear.", "output": {"entities": {"gene": [{"text": "Cbl-b", "start": 49, "end": 54}], "disease": [{"text": "demyelinating disease", "start": 97, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "DNA restriction fragment length polymorphisms of the human debrisoquine 4-hydroxylase gene locus (CYP2D6), and the metabolic phenotype for debrisoquine have been studied in a group of healthy volunteers, a group of lung cancer patients and two control groups (chronic obstructive pulmonary disease patients and patients with cancers at sites other than the lung).", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 98, "end": 104}], "disease": [{"text": "chronic obstructive pulmonary disease", "start": 260, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.", "output": {"entities": {"gene": [{"text": "hHb3", "start": 48, "end": 52}], "disease": [{"text": "monilethrix", "start": 72, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hHb3", "start": 48, "end": 52}, "tail": {"text": "monilethrix", "start": 72, "end": 83}}]}}, "schema": []}
{"input": "Recently, BCL-2/J (H) translocation was detected in peripheral blood lymphocytes from more than 50% of healthy white individuals.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 10, "end": 15}], "disease": [{"text": "translocation", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We explored whether polymorphisms of the beta (2) AR and ADCY6 genes (ADRB2 and ADCY6, respectively) affect RBC adhesion to laminin.", "output": {"entities": {"gene": [{"text": "ADCY6", "start": 57, "end": 62}], "disease": [{"text": "adhesion", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Stimulation with HRG induced phosphorylation of ErbB3 and metastatic properties including MMP-9 expression, invasion, adhesion and experimental lung metastasis in vivo.", "output": {"entities": {"gene": [{"text": "HRG", "start": 17, "end": 20}], "disease": [{"text": "adhesion", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We recently reported depression-like behavior in the forced swimming test in PACAP deficient mice.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 77, "end": 82}], "disease": [{"text": "depression", "start": 21, "end": 31}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PACAP", "start": 77, "end": 82}, "tail": {"text": "depression", "start": 21, "end": 31}}]}}, "schema": []}
{"input": "Screening MRI is recommended for women with an approximately 20-25% or greater lifetime risk of breast cancer, including women with a strong family history of breast or ovarian cancer and women who were treated for Hodgkin disease.", "output": {"entities": {"gene": [{"text": "MRI", "start": 10, "end": 13}], "disease": [{"text": "breast cancer", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Prognostic effects of low or high CCR7 and FOXP3 expression were evaluated by Cox regression and Kaplan-Meier analysis, as well as the correlation between CCR7 positive score and intratumoral FOXP3 (+) cell number in a longitudinal assessment.", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 43, "end": 48}], "disease": [{"text": "regression", "start": 82, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "To explore the spectrum of USH2A disease-causing mutations among Scandinavian USH2 cases, patients from 118 unrelated families of which 27 previously had been found to carry mutations in exons 1-21 were subjected to extensive DNA sequence analysis of the full size USH2A gene.", "output": {"entities": {"gene": [{"text": "USH2A", "start": 27, "end": 32}], "disease": [{"text": "USH2A", "start": 265, "end": 270}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USH2A", "start": 27, "end": 32}, "tail": {"text": "USH2A", "start": 265, "end": 270}}]}}, "schema": []}
{"input": "In addition, mice lacking the Egr1 gene show a defect in prostate tumorigenesis.", "output": {"entities": {"gene": [{"text": "Egr1 gene", "start": 30, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The cellular origin of IL6 in primary and metastatic prostate cancer was examined in formalin-fixed, paraffin-embedded tissues using a highly sensitive and specific chromogenic in situ hybridization (CISH) assay that underwent extensive analytical validation.", "output": {"entities": {"gene": [{"text": "CISH", "start": 200, "end": 204}], "disease": [{"text": "metastatic prostate cancer", "start": 42, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "On the basis of the controls with cancer-free liver diseases, a significantly increased risk of HCC was found in all the genetic models.", "output": {"entities": {"gene": [{"text": "HCC", "start": 96, "end": 99}], "disease": [{"text": "liver diseases", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Sixty-six patients with bipolar disorder, 27 first degree relatives of these patients and 56 healthy volunteers were screened for mutations and polymorphisms in GDNF gene.", "output": {"entities": {"gene": [{"text": "GDNF", "start": 161, "end": 165}], "disease": [{"text": "bipolar disorder", "start": 24, "end": 40}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GDNF", "start": 161, "end": 165}, "tail": {"text": "bipolar disorder", "start": 24, "end": 40}}]}}, "schema": []}
{"input": "TEM of MCF-7 as well as induction of VE-cad tyrosine phosphorylation and dissociation of β-catenin from the VE-cad complex by MCF-7 cells were lower than in MDA-MB-231 cells.", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 89, "end": 98}], "disease": [{"text": "cad", "start": 40, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "However, although GLP-1 receptor agonists are known to produce modest but statistically significant weight loss in patients with diabetes mellitus, our knowledge of how endogenous GLP-1 regulates food intake and body weight remains limited.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 18, "end": 23}], "disease": [{"text": "body weight", "start": 212, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "TFPI-2 was expressed in luminal, FSS-exposed SMCs together with caspase-3 in the rat carotid neointima after balloon injury.", "output": {"entities": {"gene": [{"text": "TFPI-2", "start": 0, "end": 6}], "disease": [{"text": "neointima", "start": 93, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Epileptic rats showed decreased cortical thickness, and diffuse gliosis was observed with GFAP antibody.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 90, "end": 94}], "disease": [{"text": "gliosis", "start": 64, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GFAP", "start": 90, "end": 94}, "tail": {"text": "gliosis", "start": 64, "end": 71}}]}}, "schema": []}
{"input": "Of the two IGF ligands, IGF-I interacts exclusively with IGF1R, whereas IGF-II recognizes an additional receptor (XR), because the growth retardation of embryos lacking both IGR1R and IGF-II (30% of normal birthweight) is more severe than that manifested in either class of single Igf1r or Igf2 null mutants (45 and 60% of normal, respectively).", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 24, "end": 29}], "disease": [{"text": "birthweight", "start": 206, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "The results of this study suggest that unique HMGCL gene mutations exist in Taiwanese HL deficiency patients.", "output": {"entities": {"gene": [{"text": "HMGCL", "start": 46, "end": 51}], "disease": [{"text": "HL deficiency", "start": 86, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HMGCL", "start": 46, "end": 51}, "tail": {"text": "HL deficiency", "start": 86, "end": 99}}]}}, "schema": []}
{"input": "Lopinavir-induced cytosolic translocation of HuR and TNF-alpha and IL-6 synthesis was attenuated by specific chemical inhibitor of MEK (PD98058) or over-expression of dominant negative mutant of MEK1.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 195, "end": 199}], "disease": [{"text": "translocation", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values & lt; 0. 0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children.", "output": {"entities": {"gene": [{"text": "VIP", "start": 27, "end": 30}], "disease": [{"text": "mental retardation", "start": 198, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VIP", "start": 27, "end": 30}, "tail": {"text": "mental retardation", "start": 198, "end": 216}}]}}, "schema": []}
{"input": "Both FOXE1 and NKX2-1 were associated with the increased risk of sporadic Japanese PTC.", "output": {"entities": {"gene": [{"text": "NKX2-1", "start": 15, "end": 21}], "disease": [{"text": "PTC", "start": 83, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NKX2-1", "start": 15, "end": 21}, "tail": {"text": "PTC", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "Magnetic resonance imaging (MRI) and ultrasound may improve the ability to detect breast cancer at an early stage.", "output": {"entities": {"gene": [{"text": "MRI", "start": 28, "end": 31}], "disease": [{"text": "breast cancer", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Finally, we found that short hairpin RNA (shRNA)-based knockdown of several genes amplified in dedifferentiated liposarcoma, including CDK4 and YEATS4, decreased cell proliferation.", "output": {"entities": {"gene": [{"text": "CDK4", "start": 135, "end": 139}], "disease": [{"text": "dedifferentiated liposarcoma", "start": 95, "end": 123}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CDK4", "start": 135, "end": 139}, "tail": {"text": "dedifferentiated liposarcoma", "start": 95, "end": 123}}]}}, "schema": []}
{"input": "Among these identified proteins, 33 proteins including keratin 17 (KRT17), biliverdin reductase B (BLVRB), proteasome activator subunit 1 (PSME1), manganese superoxide dismutase (MnSOD), high-mobility group box-1 (HMGB1), heat shock protein 70 (HSP70), peroxiredoxin (PRDX1), keratin 13 (KRT13), and so on were overexpressed, and 14 proteins including cystatin B (CSTB), tropomyosin 2 (TPM2), annexin 1 (ANX1), transgelin (TAGLN), keratin 19 (KRT19), stratifin (SFN), and so on were down-expressed in ESCC.", "output": {"entities": {"gene": [{"text": "PRDX1", "start": 268, "end": 273}], "disease": [{"text": "ESCC", "start": 501, "end": 505}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRDX1", "start": 268, "end": 273}, "tail": {"text": "ESCC", "start": 501, "end": 505}}]}}, "schema": []}
{"input": "We found that chronic intermittent ethanol exposure (CIE) did not produce tolerance [loss of righting reflex (LORR)] or withdrawal-anxiety in C57BL/6J, GluN2A or PSD-95 knockout mice assayed 2-3 days later.", "output": {"entities": {"gene": [{"text": "PSD-95", "start": 162, "end": 168}], "disease": [{"text": "anxiety", "start": 131, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Monoallelic ATR gene targeting in MLH1-deficient HCT 116 colon carcinoma cells resulted in hypersensitivity to genotoxic stress accompanied by dramatic increases in fragile site instability, and chromosomal amplifications and rearrangements.", "output": {"entities": {"gene": [{"text": "ATR gene", "start": 12, "end": 20}], "disease": [{"text": "hypersensitivity", "start": 91, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "ClC-7 is a chloride-proton exchanger localized in lysosomes and in the resorption lacuna in osteoclasts where it is essential for bone resorption.", "output": {"entities": {"gene": [{"text": "ClC-7", "start": 0, "end": 5}], "disease": [{"text": "bone resorption", "start": 130, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of clear cell sarcoma with translocation (1; 6) (p32. 3; q21).", "output": {"entities": {"gene": [{"text": "p32", "start": 68, "end": 71}], "disease": [{"text": "clear cell sarcoma", "start": 22, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, Notch2 (Q2319X) mice exhibit cancellous and cortical bone osteopenia, enhanced osteoclastogenesis, and increased bone resorption.", "output": {"entities": {"gene": [{"text": "Notch2", "start": 15, "end": 21}], "disease": [{"text": "bone resorption", "start": 128, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The frequency of TAP2 * 0201 was significantly higher in young adult patients with HCV-related liver cirrhosis than in HCV carriers with normal ALT (P < 0. 05), and tended to be higher than in uninfected normal subjects (P = 0. 05).", "output": {"entities": {"gene": [{"text": "TAP2", "start": 17, "end": 21}], "disease": [{"text": "liver cirrhosis", "start": 95, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Erythropoietin receptor expression and correlation to tamoxifen response and prognosis in breast cancer.", "output": {"entities": {"gene": [{"text": "Erythropoietin receptor", "start": 0, "end": 23}], "disease": [{"text": "breast cancer", "start": 90, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Erythropoietin receptor", "start": 0, "end": 23}, "tail": {"text": "breast cancer", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "Previously we demonstrated that both hypoxia inducible factor-1 (HIF-1) and bone morphogenetic protein-4 (BMP4) up-regulate transient receptor potential canonical (TRPC) 1 and TRPC6, resulting in increased basal intracellular Ca (2 +) concentration ([Ca (2 +)] i) in pulmonary arterial smooth muscle cells (PASMCs), driving development of chronic hypoxia (CH)-induced pulmonary hypertension (CHPH).", "output": {"entities": {"gene": [{"text": "BMP4", "start": 106, "end": 110}], "disease": [{"text": "pulmonary hypertension", "start": 368, "end": 390}]}, "relations": {}}, "schema": []}
{"input": "Most human follicular B-cell lymphomas are associated with t (14; 18) chromosome translocation that joins the bcl-2 gene with the IgH locus.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 110, "end": 120}], "disease": [{"text": "chromosome translocation", "start": 70, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Four hours after seawater inhalation, histological changes, contents of TNF-α, IL-1 β and IL-10, and the expression of Cx43 in lungs were detected.", "output": {"entities": {"gene": [{"text": "TNF", "start": 72, "end": 75}], "disease": [{"text": "inhalation", "start": 26, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "VEGF-A expression by UM cells is mainly controlled by hypoxia and involves the HIF-1alpha pathway, thus indicating an important role for the tumor cell environment.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 0, "end": 6}], "disease": [{"text": "hypoxia", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Further, the relation between breast cancer risk and SHBG rs6259 was found to vary by body mass index (weight (kg)/height (m) (2)) (P for interaction = 0. 003).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 53, "end": 57}], "disease": [{"text": "height", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVE: The objective of this study was to evaluate the mutational spectrum of NLRP7 and KHDC3L (C6orf221) in women with sporadic and recurrent androgenetic complete hydatidiform moles (AnCHM) and biparental hydatidiform moles (BiHM) to address the hypothesis that autosomal recessive mutations in these genes are only or primarily associated with BiHM.", "output": {"entities": {"gene": [{"text": "NLRP7", "start": 82, "end": 87}], "disease": [{"text": "sporadic", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Further correlations revealed that 8 genes might play important role in pathogenesis of glial tumors, while changes in GP2, KCNG2 and KIR3DL3 should be considered as passenger mutations, consequence of high level of genomic instability.", "output": {"entities": {"gene": [{"text": "GP2", "start": 119, "end": 122}], "disease": [{"text": "genomic instability", "start": 216, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION: The results describe a novel function of Bcl-2 in EMT induction, provide insight into tumor progression, and implicate the Bcl-2/Twist1 complex as a potential target for developing chemotherapeutics.", "output": {"entities": {"gene": [{"text": "EMT", "start": 62, "end": 65}], "disease": [{"text": "tumor progression", "start": 98, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We conclude that PAF induces VEGF gene expression in human astrocytes, and the PAF-induced increase in the expression of VEGF may modulate nervous tissue injury due to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 29, "end": 33}], "disease": [{"text": "hypoxia", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Here we report that this translocation juxtaposes the AML1 gene with a novel gene, named MTG8, on chromosome 8, resulting in the synthesis of an AML1-MTG8 fusion transcript.", "output": {"entities": {"gene": [{"text": "AML1", "start": 54, "end": 58}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Effects of ectopic GPNMB overexpression on cell proliferation, invasion, and tumorigenesis were determined by (3) H-thymidine incorporation, matrigel invasion, soft agar cloning assays, and murine xenograft study.", "output": {"entities": {"gene": [{"text": "GPNMB", "start": 19, "end": 24}], "disease": [{"text": "tumorigenesis", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The CNVs of highest interest comprised or disrupted strong candidate or confirmed genes for epileptic and other neurodevelopmental disorders, including BRWD3, GRIN2A, KCNC3, PRKCE, PRRT2, SHANK1, and TSPAN7.", "output": {"entities": {"gene": [{"text": "TSPAN7", "start": 200, "end": 206}], "disease": [{"text": "neurodevelopmental disorders", "start": 112, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Showing moderate hearing loss with asymptomatic variable vestibular dysfunction and no retinal degeneration, the DFNA11 phenotype is mildest among phenotypes caused by MYO7A mutations.", "output": {"entities": {"gene": [{"text": "MYO7A", "start": 168, "end": 173}], "disease": [{"text": "vestibular dysfunction", "start": 57, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Beclin-1 and LC3 expression were significantly correlated with T categories, differentiation and lymph node metastasis.", "output": {"entities": {"gene": [{"text": "LC3", "start": 13, "end": 16}], "disease": [{"text": "lymph node metastasis", "start": 97, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "There was an increase in Mn-and Cu-Zn-SOD activity in SAH, MV, M, and Turner' s syndrome.", "output": {"entities": {"gene": [{"text": "SOD", "start": 38, "end": 41}], "disease": [{"text": "SAH", "start": 54, "end": 57}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD", "start": 38, "end": 41}, "tail": {"text": "SAH", "start": 54, "end": 57}}]}}, "schema": []}
{"input": "Retinoic acid induces leukemia cell G1 arrest and transition into differentiation by inhibiting cyclin-dependent kinase-activating kinase binding and phosphorylation of PML/RARalpha.", "output": {"entities": {"gene": [{"text": "cyclin-dependent kinase-activating kinase", "start": 96, "end": 137}], "disease": [{"text": "leukemia", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: It is possible that upregulation of HIF-1/VEGF is involved in the enhancement of MMP-9 expression under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 55, "end": 59}], "disease": [{"text": "hypoxic", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Our data therefore support a model that deficiency in dkc1 and nola1 in the H/ACA RNP complex likely contributes to the hematopoietic phenotype through p53 activation associated with rRNA processing defects rather than telomerase deficiency during the initial stage of DC pathogenesis.", "output": {"entities": {"gene": [{"text": "nola1", "start": 63, "end": 68}], "disease": [{"text": "DC", "start": 269, "end": 271}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nola1", "start": 63, "end": 68}, "tail": {"text": "DC", "start": 269, "end": 271}}]}}, "schema": []}
{"input": "We sequenced the CHD7 gene in 110 individuals who had received the clinical diagnosis of CHARGE syndrome, and we detected mutations in 64 (58%).", "output": {"entities": {"gene": [{"text": "CHD7", "start": 17, "end": 21}], "disease": [{"text": "CHARGE syndrome", "start": 89, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHD7", "start": 17, "end": 21}, "tail": {"text": "CHARGE syndrome", "start": 89, "end": 104}}]}}, "schema": []}
{"input": "In addition to the previously reported symptoms of severe runting, abnormalities of liver nuclei and greatly reduced lifespan (which appeared less severe in the truncation mutant), both types of ERCC1-mutant mouse exhibited an absence of subcutaneous fat, early onset of ferritin deposition in the spleen, kidney malfunction, gross abnormalities of ploidy and cytoplasmic invaginations in nuclei of liver and kidney, and compromised NER and cross-link repair.", "output": {"entities": {"gene": [{"text": "ERCC1", "start": 195, "end": 200}], "disease": [{"text": "absence of subcutaneous fat", "start": 227, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica. Some proteins can mislocate in the TAs.", "output": {"entities": {"gene": [{"text": "SCN4A", "start": 78, "end": 83}], "disease": [{"text": "paralysis periodica paramyotonica", "start": 87, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN4A", "start": 78, "end": 83}, "tail": {"text": "paralysis periodica paramyotonica", "start": 87, "end": 120}}]}}, "schema": []}
{"input": "Therefore, a defect of mRNA stabilization could be responsible for the resistance of UM384 cells to TPA-induced differentiation, suggesting a possible role for the post-transcriptional regulation in the leukemogenesis.", "output": {"entities": {"gene": [{"text": "TPA", "start": 100, "end": 103}], "disease": [{"text": "leukemogenesis", "start": 203, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "In the Roscommon Family Study, the risk in relatives of schizophrenic vs. control probands was significantly increased for psychotic affective illness (PAI), but not for non-psychotic affective illness (NPAI) or alcoholism (ALC).", "output": {"entities": {"gene": [{"text": "ALC", "start": 224, "end": 227}], "disease": [{"text": "psychotic", "start": 123, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We establish herein that cell contact-mediated nTreg regulatory function is inhibited by inflammation, especially in the presence of the complement C3b receptor (CD46).", "output": {"entities": {"gene": [{"text": "CD46", "start": 162, "end": 166}], "disease": [{"text": "inflammation", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Therefore, AA in children may have abnormalities at SCF/c-kit signal transduction levels.", "output": {"entities": {"gene": [{"text": "SCF", "start": 52, "end": 55}], "disease": [{"text": "abnormalities", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Here we describe identification of the causative gene in autosomal-dominant partial epilepsy with auditory features (ADPEAF, MIM 600512), a rare form of idiopathic lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances.", "output": {"entities": {"gene": [{"text": "MIM", "start": 125, "end": 128}], "disease": [{"text": "temporal lobe epilepsy", "start": 172, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Antitumor effects of PLGA nanoparticles encapsulating the human PNAS-4 gene combined with cisplatin in ovarian cancer.", "output": {"entities": {"gene": [{"text": "PNAS-4", "start": 64, "end": 70}], "disease": [{"text": "ovarian cancer", "start": 103, "end": 117}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PNAS-4", "start": 64, "end": 70}, "tail": {"text": "ovarian cancer", "start": 103, "end": 117}}]}}, "schema": []}
{"input": "The synthesis of VEGF is regulated by hypoxia-mediated control of gene transcription, alternative mRNA splicing and proteolytic processing.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Among the analysis of the hypermethylation status of 158 lung tumors, XPC hypermethylation is more common in nonsmokers (39 of 94, 41%) than in smokers (14 of 64, 22%; P = 0. 010).", "output": {"entities": {"gene": [{"text": "XPC", "start": 70, "end": 73}], "disease": [{"text": "lung tumors", "start": 57, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XPC", "start": 70, "end": 73}, "tail": {"text": "lung tumors", "start": 57, "end": 68}}]}}, "schema": []}
{"input": "CLIP-PCR, by use of dried blood spots with a pooling strategy, efficiently offers a highly sensitive and high-throughput approach to detect asymptomatic submicroscopic infections with reduced cost and labor, making it an ideal tool for large-scale malaria surveillance in elimination settings.", "output": {"entities": {"gene": [{"text": "CLIP", "start": 0, "end": 4}], "disease": [{"text": "asymptomatic", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Sphingosine kinase 1 (SK1) is a key regulator of the dynamic ceramide/sphingosine 1-phosphate rheostat balance and important in the pathological cancer genesis, progression, and metastasis processes.", "output": {"entities": {"gene": [{"text": "SK1", "start": 22, "end": 25}], "disease": [{"text": "metastasis", "start": 178, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these observations suggest that (a) stress associated with the withdrawal symptoms are sufficient enough to induce breakdown of the BBB function, and (b) modulation of serotonin 5-HT2c receptors may have some protective influence on the stress symptoms and the BBB disruption.", "output": {"entities": {"gene": [{"text": "5-HT2c", "start": 194, "end": 200}], "disease": [{"text": "withdrawal symptoms", "start": 79, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT2c", "start": 194, "end": 200}, "tail": {"text": "withdrawal symptoms", "start": 79, "end": 98}}]}}, "schema": []}
{"input": "Changes in oligodendroglia-related genes reported in SZ, BD and MDD appear to display considerable similarities (particularly decreased expression of MAG, ERBB, TF, PLP1, MOG, MOBP, MOG), while changes in cocaine abuse and alcoholism are more diverse.", "output": {"entities": {"gene": [{"text": "PLP1", "start": 165, "end": 169}], "disease": [{"text": "cocaine abuse", "start": 205, "end": 218}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLP1", "start": 165, "end": 169}, "tail": {"text": "cocaine abuse", "start": 205, "end": 218}}]}}, "schema": []}
{"input": "All male TGR developed significant albuminuria starting at 8 to 15 wk of age; systolic BP was not elevated.", "output": {"entities": {"gene": [{"text": "TGR", "start": 9, "end": 12}], "disease": [{"text": "albuminuria", "start": 35, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "In this model, VIP treatment failed to correct many of the genotypic abnormalities, and, in parallel, incompletely corrected the phenotypic changes as well.", "output": {"entities": {"gene": [{"text": "VIP", "start": 15, "end": 18}], "disease": [{"text": "abnormalities", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Systemic primary carnitine deficiency is an autosomal recessive disorder of the carnitine cycle caused by mutations in the SLC22A5 gene that encodes the carnitine transporter, organic cation transporter.", "output": {"entities": {"gene": [{"text": "SLC22A5", "start": 123, "end": 130}], "disease": [{"text": "Systemic primary carnitine deficiency", "start": 0, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC22A5", "start": 123, "end": 130}, "tail": {"text": "Systemic primary carnitine deficiency", "start": 0, "end": 37}}]}}, "schema": []}
{"input": "In this study, the possible relation of the expression pattern of arginine methyltransferase 1 and colon cancer progression is investigated.", "output": {"entities": {"gene": [{"text": "methyltransferase 1", "start": 75, "end": 94}], "disease": [{"text": "colon cancer", "start": 99, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that the up-regulation of TMPRSS2 gene and the down-regulation of KLK11 gene in advanced and more aggressive tumors may open the feasibility of being used as biomarkers distinguishing the tumor aggressiveness as well as novel prognostic indicators for PCa.", "output": {"entities": {"gene": [{"text": "KLK11 gene", "start": 86, "end": 96}], "disease": [{"text": "aggressiveness", "start": 214, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "In this animal model, hydrocephalus formation is specifically induced during a critical time period of early postnatal development, in which IKK/NF-κB-induced neuroinflammation interferes with ependymal ciliogenesis.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 145, "end": 150}], "disease": [{"text": "hydrocephalus", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "In family 2, immunohistochemistry analysis showed isolated loss of PMS2 expression in all tumours in the affected patients, including rhabdomyosarcoma itself and the surrounding normal tissue.", "output": {"entities": {"gene": [{"text": "PMS2", "start": 67, "end": 71}], "disease": [{"text": "rhabdomyosarcoma", "start": 134, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PMS2", "start": 67, "end": 71}, "tail": {"text": "rhabdomyosarcoma", "start": 134, "end": 150}}]}}, "schema": []}
{"input": "Moreover, flow cytometry may be a new convenient and valuable tool for analyzing the AQP9 status of APL patients compared to current methods such as western blotting.", "output": {"entities": {"gene": [{"text": "AQP9", "start": 85, "end": 89}], "disease": [{"text": "APL", "start": 100, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AQP9", "start": 85, "end": 89}, "tail": {"text": "APL", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.", "output": {"entities": {"gene": [{"text": "adenylyl cyclase 5", "start": 109, "end": 127}], "disease": [{"text": "familial dyskinesia and facial myokymia", "start": 19, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "adenylyl cyclase 5", "start": 109, "end": 127}, "tail": {"text": "familial dyskinesia and facial myokymia", "start": 19, "end": 58}}]}}, "schema": []}
{"input": "Classification and regression tree analysis demonstrated a higher-order interaction between smoking status, ADH1B, FLJ13089, and FLJ35784 in HNSCC risk.", "output": {"entities": {"gene": [{"text": "ADH1B", "start": 108, "end": 113}], "disease": [{"text": "regression", "start": 19, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Recent cytogenetic and molecular analyses have shown that most LGFMSs have a characteristic chromosomal abnormality, t (7; 16) (q33; p11), resulting in the FUS-CREB3L2 fusion gene.", "output": {"entities": {"gene": [{"text": "p11", "start": 133, "end": 136}], "disease": [{"text": "chromosomal abnormality", "start": 92, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We have demonstrated that low OSM levels are a potential indicator of neonatal jaundice and the need for phototherapy.", "output": {"entities": {"gene": [{"text": "OSM", "start": 30, "end": 33}], "disease": [{"text": "neonatal jaundice", "start": 70, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The investigation compared 37 men who were family history positive for alcoholism with 37 family history negative controls on postinfusion levels of cortisol, prolactin, and growth hormone following 0. 12 and 0. 20 mg/kg of diazepam given IV over 7 minutes.", "output": {"entities": {"gene": [{"text": "growth hormone", "start": 174, "end": 188}], "disease": [{"text": "alcoholism", "start": 71, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "growth hormone", "start": 174, "end": 188}, "tail": {"text": "alcoholism", "start": 71, "end": 81}}]}}, "schema": []}
{"input": "Raising the gammaglobulin concentration to approximately 40 mg/ml plasma in the rats almost totally blunted the rise in serum EPO levels despite a fall of the hematocrit to 20%.", "output": {"entities": {"gene": [{"text": "EPO", "start": 126, "end": 129}], "disease": [{"text": "fall", "start": 147, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the adhesion of the human fibrosarcoma cell line, HT-1080, transfected with glial fibrillary acidic protein (GFAP) to a variety of extracellular matrix macromolecules (ECM) including collagen type IV, laminin, and fibronectin.", "output": {"entities": {"gene": [{"text": "ECM", "start": 189, "end": 192}], "disease": [{"text": "fibrosarcoma", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Novel small leucine-rich repeat protein podocan is a negative regulator of migration and proliferation of smooth muscle cells, modulates neointima formation, and is expressed in human atheroma.", "output": {"entities": {"gene": [{"text": "podocan", "start": 40, "end": 47}], "disease": [{"text": "neointima formation", "start": 137, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome.", "output": {"entities": {"gene": [{"text": "CCDC8", "start": 45, "end": 50}], "disease": [{"text": "3-M syndrome", "start": 65, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC8", "start": 45, "end": 50}, "tail": {"text": "3-M syndrome", "start": 65, "end": 77}}]}}, "schema": []}
{"input": "The girls, who showed mild virilization in relation to their CYP21 genotype, had inherited the AR gene mutation from their father, who showed no symptoms of androgen insensitivity.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 61, "end": 66}], "disease": [{"text": "mild", "start": 22, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate that the polymorphisms rs3027898 and rs1059702 of IRAK1 gene are associated with SLE in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "IRAK1", "start": 71, "end": 76}], "disease": [{"text": "SLE", "start": 102, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IRAK1", "start": 71, "end": 76}, "tail": {"text": "SLE", "start": 102, "end": 105}}]}}, "schema": []}
{"input": "Here, we unveil a cascade of events involving peroxisome proliferator-activated receptor (PPAR) β/δ and the oncogene Src, which promotes the development of ultraviolet (UV)-induced skin cancer in mice.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 90, "end": 94}], "disease": [{"text": "skin cancer", "start": 181, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The data indicate that Raf-1/MEK/ERK participates in crosstalk with 4EBP1, which represents a novel pathway interaction leading to increased protein synthesis, cell growth, and kidney tumor formation.", "output": {"entities": {"gene": [{"text": "ERK", "start": 33, "end": 36}], "disease": [{"text": "kidney tumor", "start": 177, "end": 189}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK", "start": 33, "end": 36}, "tail": {"text": "kidney tumor", "start": 177, "end": 189}}]}}, "schema": []}
{"input": "This review aims to summarize recent research findings on lipocalin 2 (LCN2), a newly identified biomarker and a potential therapeutic target for breast cancer, and the possible mechanisms underlying its role in tumorigenesis and metastasis.", "output": {"entities": {"gene": [{"text": "LCN2", "start": 71, "end": 75}], "disease": [{"text": "tumorigenesis", "start": 212, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "To elucidate possible roles of angiopoietins and VEGF in the development of hypoxic pulmonary hypertension (PH), changes in the expression of angiogenic factors were examined.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxic", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia-inducible factor-dependent induction of netrin-1 dampens inflammation caused by hypoxia.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 48, "end": 56}], "disease": [{"text": "hypoxia", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Reducing RFX1 in CD4 (+) T cells is sufficient to cause lupus-like T and B cell hyperactivity, whereas overexpressing RFX1 suppresses T cell reactivity.", "output": {"entities": {"gene": [{"text": "CD4", "start": 17, "end": 20}], "disease": [{"text": "hyperactivity", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "After further molecular screening of individuals with SCN, we identified 19 additional affected individuals with homozygous HAX1 mutations, including three belonging to the original pedigree described by Kostmann.", "output": {"entities": {"gene": [{"text": "HAX1", "start": 124, "end": 128}], "disease": [{"text": "SCN", "start": 54, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HAX1", "start": 124, "end": 128}, "tail": {"text": "SCN", "start": 54, "end": 57}}]}}, "schema": []}
{"input": "ABC294640 caused similar autophagic responses in PC-3 prostate and MDA-MB-231 breast adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 49, "end": 53}], "disease": [{"text": "breast adenocarcinoma", "start": 78, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The association between the AGRP Ala67Thr or the NPY Leu7Pro polymorphisms and indicators of body fatness (baseline leptin levels, body mass index (BMI) values and prevalence of overweight) are investigated in 582 participants of two large cohorts in The Netherlands (total 18 500 adult men and women), aged 20-40 years whose weight remained relatively constant or whose weight increased substantially (range 5. 5-47 kg) during a mean follow-up of 7 years.", "output": {"entities": {"gene": [{"text": "NPY", "start": 49, "end": 52}], "disease": [{"text": "weight", "start": 182, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "The genes encoding for tumor necrosis factor-alpha (TNF-alpha), epidermal growth factor receptor (EGFR) and the vitamin D receptor (VDR) are colocalized to inflammatory bowel disease-associated linkage regions on chromosomes 6, 7 and 12.", "output": {"entities": {"gene": [{"text": "VDR", "start": 132, "end": 135}], "disease": [{"text": "bowel disease", "start": 169, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "In vivo treatment of mice with ongoing experimental autoimmune encephalomyelitis (EAE; a mouse model of multiple sclerosis) diminishes paralysis and progression of the disease and reduces IL-17A-secreting CD4 (+) T cells in the periphery and central nervous system (CNS).", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 188, "end": 194}], "disease": [{"text": "paralysis", "start": 135, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "There were significant decreases in the DR3, 5, 6, 8 group (DR5, DR6, or DR8) antigen frequencies in patients with retinal perivasculitis, high intraocular pressure (or secondary glaucoma), and optic nerve and/or macular lesion.", "output": {"entities": {"gene": [{"text": "DR5", "start": 60, "end": 63}], "disease": [{"text": "secondary glaucoma", "start": 169, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "We propose an alternative hypothesis and suggest that the translocation of another gene, c-sis, may be more important.", "output": {"entities": {"gene": [{"text": "gene, c-sis", "start": 83, "end": 94}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Pachyonychia congenita (PC) is a rare genodermatosis caused by mutations in any of the four genes KRT6A, KRT6B, KRT16, or KRT17, which can lead to dystrophic, thickened nails and focal palmoplantar keratoderma, among other manifestations.", "output": {"entities": {"gene": [{"text": "KRT17", "start": 122, "end": 127}], "disease": [{"text": "genodermatosis", "start": 38, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Tnfa signaling through tnfr2 protects skin against oxidative stress-induced inflammation.", "output": {"entities": {"gene": [{"text": "tnfr2", "start": 23, "end": 28}], "disease": [{"text": "inflammation", "start": 76, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Stereological investigation of adrenal glands from another set of PEPCK-IGF-II transgenic mice and controls (6-month-old males) demonstrated that the increase in adrenal weight in transgenic mice is mainly caused by a 50% increase in the number of zona fasciculata cells, whereas cell volume and zonation of transgenic adrenal glands remained unchanged.", "output": {"entities": {"gene": [{"text": "PEPCK", "start": 66, "end": 71}], "disease": [{"text": "weight", "start": 170, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Development of acute lymphoblastic leukemia and myeloproliferative disorder in transgenic mice expressing p210bcr/abl: a novel transgenic model for human Ph1-positive leukemias.", "output": {"entities": {"gene": [{"text": "Ph1", "start": 154, "end": 157}], "disease": [{"text": "myeloproliferative disorder", "start": 48, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "multidrug resistance-associated protein 1 (MRP1)] is a membrane-bound pump excreting a variety of xenobiotics from the cell, and thus ABCC1 may play an important role in smoking-related lung function loss and development of chronic obstructive pulmonary disease (COPD).", "output": {"entities": {"gene": [{"text": "ABCC1", "start": 134, "end": 139}], "disease": [{"text": "smoking", "start": 170, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.", "output": {"entities": {"gene": [{"text": "beta-glucuronidase", "start": 26, "end": 44}], "disease": [{"text": "mucopolysaccharidosis type VII", "start": 70, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-glucuronidase", "start": 26, "end": 44}, "tail": {"text": "mucopolysaccharidosis type VII", "start": 70, "end": 100}}]}}, "schema": []}
{"input": "Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR).", "output": {"entities": {"gene": [{"text": "RNASEH2C", "start": 129, "end": 137}], "disease": [{"text": "inflammatory disorder", "start": 39, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Lysinuric Protein Intolerance (LPI, MIM 222700) is a recessive aminoaciduria caused by defective cationic amino acid transport in epithelial cells of intestine and kidney.", "output": {"entities": {"gene": [{"text": "MIM", "start": 36, "end": 39}], "disease": [{"text": "aminoaciduria", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Based on these results, we propose that miR-145, as an important regulator of SOX2, carries crucial roles in laryngeal SCC tumorigenesis.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 78, "end": 82}], "disease": [{"text": "tumorigenesis", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In streptozotocin (STZ)-induced diabetic rats, mesangial and glomerular hypertrophy and an increase in the glomerular filtration rate (GFR) and albuminuria were observed after 12 weeks of STZ injection.", "output": {"entities": {"gene": [{"text": "STZ", "start": 19, "end": 22}], "disease": [{"text": "albuminuria", "start": 144, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "AMY plaques sometimes colocalized with Abeta (x-42) deposits, but they did not colocalize with Abeta (x-40) plaque cores in either SAD or FAD brains.", "output": {"entities": {"gene": [{"text": "AMY", "start": 0, "end": 3}], "disease": [{"text": "plaque", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Cyclin D3 immunoreactivity in follicular lymphoma is independent of the t (6; 14) (p21. 1; q32. 3) translocation or cyclin D3 gene amplification and is correlated with histologic grade and Ki-67 labeling index.", "output": {"entities": {"gene": [{"text": "Cyclin D3", "start": 0, "end": 9}], "disease": [{"text": "translocation", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Higher CD4 (+) IL-10 (-) IFN-γ (+) T cells frequencies and production of proinflammatory cytokines (including TNF and IL-2) at recruitment (first antenatal visit) had a protective association with birth weight and future (delivery) P. falciparum infection, respectively.", "output": {"entities": {"gene": [{"text": "CD4", "start": 7, "end": 10}], "disease": [{"text": "birth weight", "start": 197, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Association results in humans indicate pleiotropic effects for SNPs within or surrounding CNTN4 on obesity, lipids and blood pressure traits and for SNPs near IL5RA, TRNT1, CRBN, and LRRN1 on central obesity and blood pressure.", "output": {"entities": {"gene": [{"text": "CRBN", "start": 173, "end": 177}], "disease": [{"text": "central obesity", "start": 192, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Further, tumorigenesis in Dcn (-/-) mice was associated with disruption of intestinal maturation, including decreased cell differentiation and increased proliferation, which were linked to the downregulation of p21 (WAF1/cip1), p27 (kip1), intestinal trefoil factor and E-cadherin and to the upregulation of beta-catenin signaling.", "output": {"entities": {"gene": [{"text": "intestinal trefoil factor", "start": 240, "end": 265}], "disease": [{"text": "tumorigenesis", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "The expression of ROCK1 was markedly upregulated in glioma tissues, as well as in U87 and U251 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 82, "end": 85}], "disease": [{"text": "glioma", "start": 52, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "However, only very recently has the gene for MPS IIIC (heparin acetyl CoA: alpha-glucosaminide N-acetyltransferase, or HGSNAT) been identified.", "output": {"entities": {"gene": [{"text": "HGSNAT", "start": 119, "end": 125}], "disease": [{"text": "MPS IIIC", "start": 45, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGSNAT", "start": 119, "end": 125}, "tail": {"text": "MPS IIIC", "start": 45, "end": 53}}]}}, "schema": []}
{"input": "The methylation status of exon 1 of the BCSG1 gene in breast cancer, and matched non-neoplastic adjacent and benign lesion tissues was extensively examined using methylation-specific PCR analysis.", "output": {"entities": {"gene": [{"text": "BCSG1", "start": 40, "end": 45}], "disease": [{"text": "non-neoplastic", "start": 81, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Characterization of Potocki-Lupski syndrome (dup (17) (p11. 2p11. 2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.", "output": {"entities": {"gene": [{"text": "p11", "start": 55, "end": 58}], "disease": [{"text": "autism", "start": 145, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The development of HNPCC is associated with defects in DNA mismatch repair (MMR) pathway resulting in microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 76, "end": 79}], "disease": [{"text": "microsatellite instability", "start": 102, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of hypoxia-induced angiogenesis by cigarette smoke exposure: impairment of the HIF-1alpha/VEGF pathway.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 101, "end": 105}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "These findings extend the body of evidence implicating mutations in the ARS (component B) gene in Mal de Meleda.", "output": {"entities": {"gene": [{"text": "ARS (component B", "start": 72, "end": 88}], "disease": [{"text": "Mal de Meleda", "start": 98, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARS (component B", "start": 72, "end": 88}, "tail": {"text": "Mal de Meleda", "start": 98, "end": 111}}]}}, "schema": []}
{"input": "The effects of NO donors on the expression of proteins associated with PEM metabolism, including thymidylate synthase (TS), reduced folate carrier 1 (RFC1), folylpolyglutamate synthase (FPGS), γ-glutamyl hydrolase (GGH) and multidrug resistance-related protein (MRP) 5, and the effects of cyclic guanosine mono-phosphate (cGMP) signaling on these proteins were examined in A549 cells.", "output": {"entities": {"gene": [{"text": "PEM", "start": 71, "end": 74}], "disease": [{"text": "mono", "start": 306, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "However, the role of Cd36 in blood pressure regulation remains controversial due to inconsistent blood pressure effects that were observed with transgenic expression of Cd36 on the SHR background.", "output": {"entities": {"gene": [{"text": "Cd36", "start": 21, "end": 25}], "disease": [{"text": "blood pressure", "start": 29, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Lafora disease (progressive myoclonus epilepsy of Lafora type) is an autosomal recessive neurodegenerative disorder resulting from defects in the EPM2A gene.", "output": {"entities": {"gene": [{"text": "EPM2A", "start": 146, "end": 151}], "disease": [{"text": "Lafora disease", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPM2A", "start": 146, "end": 151}, "tail": {"text": "Lafora disease", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "pcDNA3. 0 carrying murine IL-4 or IL-10 cDNA was encapsulated with LipofectAMINE 2000 and intraperitoneally injected into mice with TNBS-induced colitis.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 26, "end": 30}], "disease": [{"text": "colitis", "start": 145, "end": 152}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-4", "start": 26, "end": 30}, "tail": {"text": "colitis", "start": 145, "end": 152}}]}}, "schema": []}
{"input": "The mTORC1-inhibitor everolimus shows limited efficacy in treating patients with gastro-entero-pancreatic or pulmonary neuroendocrine tumors (NETs), and poor outcome in patients with malignant pheochromocytoma or hepatic carcinoma.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 4, "end": 10}], "disease": [{"text": "malignant pheochromocytoma", "start": 183, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "To further assess the role of TR1 in the malignancy process, we used RNA interference technology to decrease its expression in mouse lung carcinoma (LLC1) cells.", "output": {"entities": {"gene": [{"text": "LLC1", "start": 149, "end": 153}], "disease": [{"text": "malignancy", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "AT1-R staining was found in macrophage-rich areas, and AT1-R mRNA was detected in plaque macrophages isolated with anti-CD14 immunobeads.", "output": {"entities": {"gene": [{"text": "CD14", "start": 120, "end": 124}], "disease": [{"text": "plaque", "start": 82, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The present study evaluates association between SPP1 polymorphisms and SLE in a large cohort of 1141 unrelated SLE patients [707 European-American (EA) and 434 African-American (AA)], and 2009 unrelated controls (1309 EA and 700 AA).", "output": {"entities": {"gene": [{"text": "SPP1", "start": 48, "end": 52}], "disease": [{"text": "SLE", "start": 71, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPP1", "start": 48, "end": 52}, "tail": {"text": "SLE", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "VEGF synthesis in visceral adipose tissue is inefficient being not followed by angiogenesis to counterbalance tissue hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "VEGF-C might be involved in the deep lymphatic dissemination and progression of melanoma metastasis.", "output": {"entities": {"gene": [{"text": "VEGF-C", "start": 0, "end": 6}], "disease": [{"text": "melanoma", "start": 80, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VEGF-C", "start": 0, "end": 6}, "tail": {"text": "melanoma", "start": 80, "end": 88}}]}}, "schema": []}
{"input": "Many of the genes upregulated in USPC were found to represent adhesion molecules, secreted proteins and oncogenes, such as L1 cell adhesion molecule, claudin-3 and claudin-4, kallikrein 6 (protease M) and kallikrein 10 (NES1), interleukin-6 and c-erbB2.", "output": {"entities": {"gene": [{"text": "claudin-3", "start": 150, "end": 159}], "disease": [{"text": "adhesion", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Other outcomes were very PTB, low-birthweight (LBW), very LBW, small for gestational age and perinatal mortality.", "output": {"entities": {"gene": [{"text": "PTB", "start": 25, "end": 28}], "disease": [{"text": "small for gestational age", "start": 63, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "CRMP2B and ARPC5 may participate in CNS injury mediated by hypothyroidism by inducing neurite outgrowth inhibition and cytoskeletal protein disorganization.", "output": {"entities": {"gene": [{"text": "ARPC5", "start": 11, "end": 16}], "disease": [{"text": "hypothyroidism", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Clinically, NF1 is characterized by café-au-lait (CAL) spots, neurofibromas, freckling of the axillary or inguinal region, Lisch nodules, optic nerve glioma, and bone dysplasias.", "output": {"entities": {"gene": [{"text": "CAL", "start": 50, "end": 53}], "disease": [{"text": "freckling", "start": 77, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Renal carcinoma cells lacking wild-type pVHL were found to produce mRNAs encoding VEGF/VPF, the glucose transporter GLUT1, and the platelet-derived growth factor B chain under both normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VPF", "start": 87, "end": 90}], "disease": [{"text": "hypoxic", "start": 194, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Methylation status by using methylation-specific polymerase chain reaction (MS-PCR) and protein expression by using immunohistochemistry for p16 INK4A and MGMT genes were performed in cervical squamous intraepithelial neoplasms (CIN), invasive squamous cell carcinomas (SCC), adenocarcinomas and non-neoplastic cervices.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 155, "end": 159}], "disease": [{"text": "non-neoplastic", "start": 296, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "To determine the role of HPP1 in ulcerative colitis (UC)-associated carcinogenesis, the prevalence of HPP1 methylation was investigated in three different histological stages of UC-associated carcinogenesis (non-neoplastic UC colon, dysplasia, and carcinoma).", "output": {"entities": {"gene": [{"text": "HPP1", "start": 25, "end": 29}], "disease": [{"text": "non-neoplastic", "start": 208, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest miR-424 plays distinct roles in tumor progression, potentially facilitating earlier, but repressing later, stages of metastasis by regulating an EMT-MET axis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 168, "end": 171}], "disease": [{"text": "tumor progression", "start": 55, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "A total of 37 RER proteins (25 unique in arginine-induced, 6 unique in caerulein-induced and 6 common in both models of AP) showed significant changes during AP including translational regulators and digestive enzymes, whereas only mild changes were found in some ER chaperones.", "output": {"entities": {"gene": [{"text": "RER", "start": 14, "end": 17}], "disease": [{"text": "mild", "start": 232, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "A mutation in the glycine-rich cornified envelope protein loricrin has recently been reported in Vohwinkel' s keratoderma (honeycomb keratoderma with pseudoainhum), in a pedigree amongst whom ichthyosis was also a feature.", "output": {"entities": {"gene": [{"text": "envelope protein", "start": 41, "end": 57}], "disease": [{"text": "ichthyosis", "start": 192, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the promoter methylation status of FBLN-3 gene in non-small cell lung carcinoma (NSCLC) by methylation-specific PCR and analyzed its correlation with clinicopathological factors.", "output": {"entities": {"gene": [{"text": "FBLN", "start": 73, "end": 77}], "disease": [{"text": "non-small cell lung carcinoma", "start": 88, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.", "output": {"entities": {"gene": [{"text": "MIM", "start": 146, "end": 149}], "disease": [{"text": "insulin-dependent diabetes mellitus", "start": 338, "end": 373}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in human atheroma cultures, TLR7 activation selectively suppressed the production of key proatherogenic factors such as monocyte chemoattractant protein-1 and tumor necrosis factor without affecting IL-10.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor", "start": 169, "end": 190}], "disease": [{"text": "atheroma", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The aims of this study were to examine the differences in expression of E-cadherin, claudin 4, and ZO-1 proteins according to the pathological and clinical features of advanced gastric cancer.", "output": {"entities": {"gene": [{"text": "ZO-1", "start": 99, "end": 103}], "disease": [{"text": "gastric cancer", "start": 177, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "MSC marker CD73 was expressed around the granulomas of ITB alone and was completely absent in the Crohn' s.", "output": {"entities": {"gene": [{"text": "MSC", "start": 0, "end": 3}], "disease": [{"text": "granulomas", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Finally, individuals with PH1 at the level of the AGXT genotype might remain asymptomatic and undiagnosed for many years.", "output": {"entities": {"gene": [{"text": "AGXT", "start": 50, "end": 54}], "disease": [{"text": "asymptomatic", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Chemerin induces insulin resistance in the skeletal muscle in vivo.", "output": {"entities": {"gene": [{"text": "Chemerin", "start": 0, "end": 8}], "disease": [{"text": "insulin resistance", "start": 17, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show that microsatellite instability (MSI) in colorectal cancer cells deficient for a subset of the human mismatch repair (MMR) genes (hMLH1, hMSH2, and hMSH6), is markedly reduced during exposure to aspirin or sulindac [or Clinoril, which is chemically related to indomethacin (Indocin)].", "output": {"entities": {"gene": [{"text": "MMR", "start": 141, "end": 144}], "disease": [{"text": "microsatellite instability", "start": 28, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have suggested that one of these proteins, the regulator of G-protein signaling 2 (RGS2), plays an important part in anxiety and/or aggressive behavior.", "output": {"entities": {"gene": [{"text": "RGS2", "start": 98, "end": 102}], "disease": [{"text": "aggressive behavior", "start": 147, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "However, our data suggest that IFN-alpha induces additional cytogenetic abnormalities even in the chronic phase through its immune-modulating effects and that these unusual cytogenetic abnormalities do not alter the history of CML.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 31, "end": 40}], "disease": [{"text": "cytogenetic abnormalities", "start": 60, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "This review will discuss the role of MPO in tumour progression and provide an overview of its part in tumour metastasis and ulcer.", "output": {"entities": {"gene": [{"text": "MPO", "start": 37, "end": 40}], "disease": [{"text": "ulcer", "start": 124, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Importantly, we find that in response to beta-adrenergic receptor stimulation, Epac1 activates Ras and induces adult cardiomyocyte hypertrophy in a cAMP-dependent but protein kinase A-independent manner.", "output": {"entities": {"gene": [{"text": "beta-adrenergic receptor", "start": 41, "end": 65}], "disease": [{"text": "cardiomyocyte hypertrophy", "start": 117, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Analysis of cyclin dependent kinase activity following Adp27 infections showed decreased Cdk2 and cyclin B1-Cdc2 activity at lower viral doses when compared with AdWAF1.", "output": {"entities": {"gene": [{"text": "Cdk2", "start": 89, "end": 93}], "disease": [{"text": "infections", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The immunomodulatory effect of MDP-Ab immunoconjugate on peripheral blood dendritic cells (PBDCs) from children with acute lymphoblastic leukemia (ALL) exhibited upregulated expression of HLA-DR, co-stimulatory marker (CD80 and CD86) and maturity marker (CD83), increased cytokine secretion (interleukin-12, IL-12) and enhanced autostimulatory activity.", "output": {"entities": {"gene": [{"text": "MDP", "start": 31, "end": 34}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 117, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Together, these data suggest that PTHrP expression and osteolysis in vivo in human breast cancer cells is driven at least in part by Gli2.", "output": {"entities": {"gene": [{"text": "Gli2", "start": 133, "end": 137}], "disease": [{"text": "osteolysis", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In this study we examined the expression levels of COMT mRNA using quantitative RT-PCR in 60 post mortem cerebellum samples derived from individuals with schizophrenia, bipolar disorder, depression, and no history of psychopathology.", "output": {"entities": {"gene": [{"text": "COMT", "start": 51, "end": 55}], "disease": [{"text": "bipolar disorder, depression", "start": 169, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COMT", "start": 51, "end": 55}, "tail": {"text": "bipolar disorder, depression", "start": 169, "end": 197}}]}}, "schema": []}
{"input": "To assess the role of elongin B/C, Rbx1 and HIF-1alpha in RCC tumorigenesis we (a) mapped the genes to chromosomes 8q (cen) (elongin C), 16p13. 3 (elongin B) and 22q11. 2 (Rbx1) by FISH, monochromosomal somatic cell hybrid panel screening and in silico GenBank homology searching; (b) determined the genomic organisation of elongin C (by direct sequencing of PAC clones), Rbx1 and elongin B (by GenBank homology searching); and (c) performed mutation analysis of exons comprising the coding regions of elongins B, C and Rbx1 and the oxygen-dependent degradation domain of HIF-1alpha by SSCP screening and direct sequencing in 35 sporadic clear cell RCC samples without VHL gene inactivation and in 13 individuals with familial non-VHL clear cell RCC.", "output": {"entities": {"gene": [{"text": "elongin B", "start": 22, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "DAB2, a predicted target gene of miR-106b, was inhibited by TGF-β1 partly through miR-106b and was involved in TGF-β1-induced cervical cancer cell migration.", "output": {"entities": {"gene": [{"text": "DAB2", "start": 0, "end": 4}], "disease": [{"text": "cervical cancer", "start": 126, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Genome-wide significant interactions were detected in ARIC for systolic blood pressure between PLEKHA7 (a known GWAS locus for blood pressure) and GPR180 (which plays a role in vascular remodelling), and also for triglycerides as local interactions within the 11q23. 3 region (replicated significantly in NFBC1966), which notably harbours several loci (BUD13, ZNF259 and APOA5) contributing to triglyceride levels.", "output": {"entities": {"gene": [{"text": "GPR180", "start": 147, "end": 153}], "disease": [{"text": "blood pressure", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Moreover, resveratrol and GPE also strongly activated nuclear factor-erythroid 2-related factor 2 (Nrf2) to attenuate oxidative stress and improve insulin sensitivity in the liver and muscle of CML-injected C57BL/6 mice and resulted in reduced blood glucose levels.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 99, "end": 103}], "disease": [{"text": "insulin sensitivity", "start": 147, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Tumor testing using microsatellite instability (MSI), immunohistochemistry (IHC) for mismatch-repair (MMR) protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases.", "output": {"entities": {"gene": [{"text": "MMR", "start": 102, "end": 105}], "disease": [{"text": "microsatellite instability", "start": 20, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Ghrelin is an upstream regulator of the orexigenic peptides NPY and AgRP and acts as a natural antagonist to leptin' s effects on NPY/AgRP-expressing neurons, resulting in an increase in feeding and body weight.", "output": {"entities": {"gene": [{"text": "NPY", "start": 60, "end": 63}], "disease": [{"text": "body weight", "start": 199, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Indeed, we observed a significant reduction of NMDA-induced field excitatory postsynaptic potential depression in the hippocampus of Tau mice together with a reduced phosphorylation of NR2B at the Y1472, known to be critical for NMDAR function.", "output": {"entities": {"gene": [{"text": "NR2B", "start": 185, "end": 189}], "disease": [{"text": "depression", "start": 100, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR2B", "start": 185, "end": 189}, "tail": {"text": "depression", "start": 100, "end": 110}}]}}, "schema": []}
{"input": "It has previously been demonstrated that susceptibility to pemphigus vulgaris is associated with human leukocyte antigen (HLA)-DR4 serologic specificity among Ashkenase Jews, and with DR4 as well as DR6 (DR14) in other ethnic groups.", "output": {"entities": {"gene": [{"text": "DR6", "start": 199, "end": 202}], "disease": [{"text": "pemphigus vulgaris", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In searching for candidate genes for bipolar disorder on chromosome 18q21, a novel gene homologous to NEDD4 (Neural precursor cells expressed developmentally down-regulated) was identified using exon trapping and cDNA cloning.", "output": {"entities": {"gene": [{"text": "NEDD4", "start": 102, "end": 107}], "disease": [{"text": "bipolar disorder", "start": 37, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NEDD4", "start": 102, "end": 107}, "tail": {"text": "bipolar disorder", "start": 37, "end": 53}}]}}, "schema": []}
{"input": "We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls.", "output": {"entities": {"gene": [{"text": "ATRN", "start": 132, "end": 136}], "disease": [{"text": "skin color", "start": 182, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the somatic mutations in 89 cutaneous neurofibromas derived from three unrelated NF1 patients with high tumor burden, by loss of heterozygosity (LOH) analysis of the NF1, TP53, RB1, and CDKN2A genes, by assessing microsatellite instability (MSI), by direct sequencing of the NF1, TP53, and several mismatch repair (MMR) genes and by multiplex ligation-dependent probe amplification of the NF1 and TP53 genes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 332, "end": 335}], "disease": [{"text": "microsatellite instability", "start": 230, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "These novel transactive response DNA-binding protein 43 transgenic mice mimic several characteristics of human amyotrophic lateral sclerosis-frontotemporal lobar degeneration and they should provide valuable animal models for testing therapeutic approaches.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 33, "end": 52}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 111, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The aim of our study was to analyze the methylation frequency of tumor suppressor genes, P14, P15, and P73, and a mismatch repair gene (O6MGMT) in HCV related chronic liver disease and HCC to identify candidate epigenetic biomarkers for HCC prediction.", "output": {"entities": {"gene": [{"text": "P15", "start": 94, "end": 97}], "disease": [{"text": "chronic liver disease", "start": 159, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these findings suggest that AST exerts anti-carcinogenic activity in colon cancer cells through modulation of mTOR signaling and downregulation of COX-2, which together reduce VEGF level in tumor cells that could potentially suppress angiogenesis.", "output": {"entities": {"gene": [{"text": "AST", "start": 44, "end": 47}], "disease": [{"text": "colon cancer", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Impaired MMR activity can lead to microsatellite instability (MSI) in tumor tissues.", "output": {"entities": {"gene": [{"text": "MMR", "start": 9, "end": 12}], "disease": [{"text": "microsatellite instability", "start": 34, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "This study provides evidence that the TNF-α polymorphism at-308 and an atopic history impact the severity of irritation and recovery from exposure and response to treatment for common hand skin products in both chronic irritant hand dermatitis and normal skin.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 38, "end": 43}], "disease": [{"text": "atopic", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Thus, germ-line mutations of the RET gene may contribute either to developmental anomalies in HSCR or to inherited predisposition to cancer in MEN 2A.", "output": {"entities": {"gene": [{"text": "RET", "start": 33, "end": 36}], "disease": [{"text": "HSCR", "start": 94, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 33, "end": 36}, "tail": {"text": "HSCR", "start": 94, "end": 98}}]}}, "schema": []}
{"input": "In this study the effect of overexpressing ADAM17 in cell migration, viability, adhesion and proliferation was comprehensively appraised in vitro.", "output": {"entities": {"gene": [{"text": "ADAM17", "start": 43, "end": 49}], "disease": [{"text": "adhesion", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III.", "output": {"entities": {"gene": [{"text": "HPD", "start": 103, "end": 106}], "disease": [{"text": "tyrosinemia type III", "start": 227, "end": 247}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HPD", "start": 103, "end": 106}, "tail": {"text": "tyrosinemia type III", "start": 227, "end": 247}}]}}, "schema": []}
{"input": "Associations with canonical pathways previously shown to be involved in AD were also observed, such as dehydrogenases 1A (ADH1A), ADH7, aldehyde dehydrogenases 3B2 (ALDH3B2) and cytochrome P450 2A13.", "output": {"entities": {"gene": [{"text": "cytochrome P450 2A13", "start": 178, "end": 198}], "disease": [{"text": "AD", "start": 72, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cytochrome P450 2A13", "start": 178, "end": 198}, "tail": {"text": "AD", "start": 72, "end": 74}}]}}, "schema": []}
{"input": "RACK1 predicted poor prognosis in ESCC, promoted tumor progression, and was involved in EMT of ESCC.", "output": {"entities": {"gene": [{"text": "EMT", "start": 88, "end": 91}], "disease": [{"text": "tumor progression", "start": 49, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Edaravone moderately suppressed the expression of VEGF mRNA and protein in astrocytes under hypoxia in time-and concentration-dependent manners.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 50, "end": 54}], "disease": [{"text": "hypoxia", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We analyzed data from 451 pre-and early perimenopausal participants of the ancillary SWAN Mammographic Density study for whom we had complete information regarding mammographic density, genotypes, and covariates.", "output": {"entities": {"gene": [{"text": "SWAN", "start": 85, "end": 89}], "disease": [{"text": "mammographic density", "start": 164, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Drug-resistance mutations (DRAM) are frequently selected in patients with virological failure defined as viral load (pVL) above 500 copies/ml (c/mL), but few resistance data are available at low-level viremia (LLV).", "output": {"entities": {"gene": [{"text": "DRAM", "start": 27, "end": 31}], "disease": [{"text": "viremia", "start": 201, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the role of SOX2 in gastric tumorigenesis, SOX2 transcriptional activity was blocked in AZ-521 cells.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 25, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Melittin inhibits tumor cell metastasis by reducing cell motility and migration via the suppression of Rac1-dependent pathway, suggesting that melittin is a potential therapeutic agent for HCC.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 103, "end": 107}], "disease": [{"text": "HCC", "start": 189, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rac1", "start": 103, "end": 107}, "tail": {"text": "HCC", "start": 189, "end": 192}}]}}, "schema": []}
{"input": "The present study investigated variation in the promoter region of the serotonin transporter gene (5-HTTLPR) as a moderator of the stress-aggression association at the transition to adulthood.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 71, "end": 92}], "disease": [{"text": "aggression", "start": 138, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "The beta4 subunit was found to be significantly overexpressed in cancer specimens at both the protein and transcript levels.", "output": {"entities": {"gene": [{"text": "beta4", "start": 4, "end": 9}], "disease": [{"text": "cancer", "start": 65, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The frequencies of expression of human leukocyte antigen class I antigen and intercellular adhesion molecule 1 on the hepatocyte membrane of the asymptomatic carrier group were significantly less than those of the chronic hepatitis group (64% vs. 100% P < 0. 05, 29% vs. 71% P < 0. 05, respectively), although there was no significant difference in the serum HCV-RNA titer between the two groups (10 (6. 4 +/-1. 1) vs. 10 (6. 5 +/-0. 7) copies/mL).", "output": {"entities": {"gene": [{"text": "intercellular adhesion molecule 1", "start": 77, "end": 110}], "disease": [{"text": "asymptomatic", "start": 145, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "EGFR somatic mutations in lung tumors: radon exposure and passive smoking in former-and never-smoking U. S. women.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "After 6 weeks DOCA, Gas 6 (-/-) mice developed similar telemetric blood pressure elevations compared to wild-type mice but were protected from cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "Gas 6", "start": 20, "end": 25}], "disease": [{"text": "cardiac hypertrophy", "start": 143, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gas 6", "start": 20, "end": 25}, "tail": {"text": "cardiac hypertrophy", "start": 143, "end": 162}}]}}, "schema": []}
{"input": "Our study aimed to confirm the contribution of MYH9 and environmental factors to nonsyndromic orofacial cleft risk in western Han Chinese.", "output": {"entities": {"gene": [{"text": "MYH9", "start": 47, "end": 51}], "disease": [{"text": "orofacial cleft", "start": 94, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "CTGF protein is significantly increased in complicated compared with fibrous plaques and may enhance monocyte migration into atherosclerotic lesions, thus contributing to atherogenesis.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 0, "end": 4}], "disease": [{"text": "atherogenesis", "start": 171, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Implementing this systematic approach, we: (i) discovered 177 putative SZ risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain.", "output": {"entities": {"gene": [{"text": "SFRS1", "start": 369, "end": 374}], "disease": [{"text": "SZ", "start": 71, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SFRS1", "start": 369, "end": 374}, "tail": {"text": "SZ", "start": 71, "end": 73}}]}}, "schema": []}
{"input": "Urine albumin levels or microalbuminuria (albuminuria > or = 15 microg/min) did not differ by TGF-beta-1 genotypes, but both parameters were more frequent in ACE D/D homozygotes.", "output": {"entities": {"gene": [{"text": "ACE", "start": 158, "end": 161}], "disease": [{"text": "microalbuminuria", "start": 24, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Tissue samples were investigated for bcl-2 chromosomal translocation t (14; 18) by polymerase chain reaction (PCR) together with detection of bcl-2 protein expression by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 37, "end": 42}], "disease": [{"text": "chromosomal translocation", "start": 43, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The cumulative findings from these experiments show that coexpression of the HRG ligand contributes to activation of ErbB-2/Erb-3 in mouse mammary tumor cells in an autocrine or paracrine fashion.", "output": {"entities": {"gene": [{"text": "HRG", "start": 77, "end": 80}], "disease": [{"text": "mammary tumor", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "TDI is known to cause respiratory symptoms and diseases.", "output": {"entities": {"gene": [{"text": "TDI", "start": 0, "end": 3}], "disease": [{"text": "respiratory symptoms", "start": 22, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Here we identify mutations in one such element, a regulatory alternative exon of SNRPB as the cause of cerebro-costo-mandibular syndrome.", "output": {"entities": {"gene": [{"text": "SNRPB", "start": 81, "end": 86}], "disease": [{"text": "cerebro-costo-mandibular syndrome", "start": 103, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SNRPB", "start": 81, "end": 86}, "tail": {"text": "cerebro-costo-mandibular syndrome", "start": 103, "end": 136}}]}}, "schema": []}
{"input": "To assess a role for SOX2 in tumorigenesis, a panel of NSCLC cell lines with activating EGFR mutations was assessed for SOX2 expression.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 21, "end": 25}], "disease": [{"text": "tumorigenesis", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "We recruited 174 subjects hospitalized for HCC (84% males; mean age: 64 years) and 118 patients hospitalized for non-liver diseases in Brescia, northern Italy, as controls (94% males; mean age: 66 years).", "output": {"entities": {"gene": [{"text": "HCC", "start": 43, "end": 46}], "disease": [{"text": "liver diseases", "start": 117, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, chemerin serum level positively correlated with blood pressure, body mass index, and serum insulin and was negatively correlated with serum eNOS.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 13, "end": 21}], "disease": [{"text": "body mass index", "start": 77, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Among the 55 NCCAH patients, 54. 5% were homozygous for mild CYP21A2 mutations, 41. 8% were compound heterozygotes for one mild and one severe CYP21A2 gene mutations, and 3. 6% had two severe CYP21A2 gene mutations.", "output": {"entities": {"gene": [{"text": "CYP21A2 gene", "start": 143, "end": 155}], "disease": [{"text": "mild", "start": 56, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Gene expression of VEGF and hypoxia-inducible factor (HIF)-1alpha were studied in BRECs, with or without E2, under normoxia and hypoxia (1% O2).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 19, "end": 23}], "disease": [{"text": "hypoxia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "To explore the possibility that VG5Q, and specifically E133K, is implicated in other mosaic overgrowth syndromes.", "output": {"entities": {"gene": [{"text": "VG5Q", "start": 32, "end": 36}], "disease": [{"text": "overgrowth", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In HCC cell lines, the AKT-mammalian target of rapamycin complex 1-ribosomal protein S6 pathway promoted lipogenesis via transcriptional and post-transcriptional mechanisms that included inhibition of fatty acid synthase ubiquitination by the USP2a de-ubiquitinase and disruption of the SREBP1 and SREBP2 degradation complexes.", "output": {"entities": {"gene": [{"text": "ribosomal protein S6", "start": 67, "end": 87}], "disease": [{"text": "HCC", "start": 3, "end": 6}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ribosomal protein S6", "start": 67, "end": 87}, "tail": {"text": "HCC", "start": 3, "end": 6}}]}}, "schema": []}
{"input": "Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene.", "output": {"entities": {"gene": [{"text": "luteinizing hormone beta-subunit", "start": 49, "end": 81}], "disease": [{"text": "Hypogonadism", "start": 0, "end": 12}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "luteinizing hormone beta-subunit", "start": 49, "end": 81}, "tail": {"text": "Hypogonadism", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "We show that aspects of the phenotype such as motor neuron degeneration relate precisely to the relative expression of eEF1A1 and eEF1A2, whereas the immune system abnormalities are likely to result from a stress response.", "output": {"entities": {"gene": [{"text": "eEF1A2", "start": 130, "end": 136}], "disease": [{"text": "abnormalities", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In addition, a missense mutation in the endothelin-B receptor (EDNRB) gene on chromosome 13q22 was found in an inbred Mennonite kindred affected by HSCR and associated abnormalities, demonstrating the involvement of EDNRB in HSCR pathogenesis.", "output": {"entities": {"gene": [{"text": "EDNRB", "start": 63, "end": 68}], "disease": [{"text": "abnormalities", "start": 168, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5' untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue.", "output": {"entities": {"gene": [{"text": "UTR", "start": 168, "end": 171}], "disease": [{"text": "osteogenesis imperfecta", "start": 34, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The patient had sensorineural hearing loss with evidence of bilateral hypoplastic cochleas on imaging, another feature which has been reported in the previous cases of WABS.", "output": {"entities": {"gene": [{"text": "WABS", "start": 168, "end": 172}], "disease": [{"text": "sensorineural hearing loss", "start": 16, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "During hypoxia, HIF-1alpha acts as the primary transcription factor functioning to activate multiple target genes, including vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 161, "end": 165}], "disease": [{"text": "hypoxia", "start": 7, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "The induction of VEGF by IGF-II was additively increased by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.", "output": {"entities": {"gene": [{"text": "CFAP221", "start": 38, "end": 45}], "disease": [{"text": "primary ciliary dyskinesia", "start": 60, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFAP221", "start": 38, "end": 45}, "tail": {"text": "primary ciliary dyskinesia", "start": 60, "end": 86}}]}}, "schema": []}
{"input": "Since IAPP may cause insulin resistance, its overproduction may contribute to the diabetes that occurs in these patients.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 6, "end": 10}], "disease": [{"text": "insulin resistance", "start": 21, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "CFH plays a role in inflammation, which is causal to both diseases and both are highly prevalent in old age.", "output": {"entities": {"gene": [{"text": "CFH", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 20, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "This study compared the MCV of 522 cancer-free Japanese men with his risk of ESCC as defined using drinking, smoking, dietary habits and aldehyde dehydrogenase-2 (ALDH2) genotype in a previous case-control study of ESCC involving them as control subjects.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 163, "end": 168}], "disease": [{"text": "smoking", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical staining for 8-oxoG and OGG1 were performed in HCC and non-neoplastic tissues.", "output": {"entities": {"gene": [{"text": "HCC", "start": 67, "end": 70}], "disease": [{"text": "non-neoplastic", "start": 75, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "It was suggested that HCPT could inhibit the expression of HIF-1alpha protein and downstream VEGF gene in hypoxic SiHa cells in a dose-dependent manner, and the inhibitory effect was not related with HCPT cytotoxicity.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 93, "end": 97}], "disease": [{"text": "hypoxic", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We carried out a case-control association community based study, genotyping 12 polymorphisms of TLR2, TLR4, TLR6 and TLR9 genes in 90 patients with confirmed pulmonary TB and 90 unrelated exposed but asymptomatic household contacts.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 102, "end": 106}], "disease": [{"text": "asymptomatic", "start": 200, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Using a combination of human B lymphoid leukemia cells and mouse models, we now show that AID expression can be harnessed for antileukemic effect, after inhibition of the RAD51 homologous recombination (HR) factor with 4, 4'-diisothiocyanatostilbene-2-2'-disulfonic acid (DIDS).", "output": {"entities": {"gene": [{"text": "AID", "start": 90, "end": 93}], "disease": [{"text": "lymphoid leukemia", "start": 31, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AID", "start": 90, "end": 93}, "tail": {"text": "lymphoid leukemia", "start": 31, "end": 48}}]}}, "schema": []}
{"input": "Nitric oxide causes anoikis through attenuation of E-cadherin and activation of caspase-3 in human gastric carcinoma AZ-521 cells infected with Mycoplasma hyorhinis.", "output": {"entities": {"gene": [{"text": "caspase-3", "start": 80, "end": 89}], "disease": [{"text": "Mycoplasma", "start": 144, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caspase-3", "start": 80, "end": 89}, "tail": {"text": "Mycoplasma", "start": 144, "end": 154}}]}}, "schema": []}
{"input": "Through this translocation, one of the SYT genes, SYT4 on chromosome 18, is fused to one of the SSX genes on chromosome X. SYT4-SSX1 is the most common fusion subtype, present in approximately two thirds of the cases, followed by SYT4-SSX2 and, very rarely, SYT4-SSX4.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 235, "end": 239}], "disease": [{"text": "translocation", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "This study found that mutations could be identified in about 85% CCD patients, even if only the C-terminal-encoding region of RYR1 was screened.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 126, "end": 130}], "disease": [{"text": "CCD", "start": 65, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 126, "end": 130}, "tail": {"text": "CCD", "start": 65, "end": 68}}]}}, "schema": []}
{"input": "These data indicate that the increments in food intake in hyperthyroidism could be mediated, at least in some extent, by a decreased expression, at the paraventricular nucleus of the hypothalamus, of the anorexigenic cocaine-and amphetamine-regulated transcript peptides.", "output": {"entities": {"gene": [{"text": "cocaine-and amphetamine-regulated transcript", "start": 217, "end": 261}], "disease": [{"text": "hyperthyroidism", "start": 58, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cocaine-and amphetamine-regulated transcript", "start": 217, "end": 261}, "tail": {"text": "hyperthyroidism", "start": 58, "end": 73}}]}}, "schema": []}
{"input": "The coding region of TNFR1 was sequenced in 2 individuals with TRAPS (the propositus and her grandfather) and in 3 clinically unaffected relatives.", "output": {"entities": {"gene": [{"text": "TNFR1", "start": 21, "end": 26}], "disease": [{"text": "TRAPS", "start": 63, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFR1", "start": 21, "end": 26}, "tail": {"text": "TRAPS", "start": 63, "end": 68}}]}}, "schema": []}
{"input": "Filamin A mutations have been reported in all families and in approximately 20% of sporadic patients.", "output": {"entities": {"gene": [{"text": "Filamin A", "start": 0, "end": 9}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Moreover, knockdown of Ang1 in EVI1 (high) leukemia cells promoted cell cycle progression and down-regulated the CDK inhibitor p18 (INK4c).", "output": {"entities": {"gene": [{"text": "Ang1", "start": 23, "end": 27}], "disease": [{"text": "leukemia", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Similarly, both the BRCA1 and BRCA2 family status (P ≤ 0. 03) and the IGFBP-3 diplotypes GCA/GCG (P = 0. 007) and GCG/CCG (P = 0. 002) were significantly associated with lower IGFBP-3 levels, adjusted for age, weight, OC use, and other IGFBP diplotypes.", "output": {"entities": {"gene": [{"text": "GCG", "start": 93, "end": 96}], "disease": [{"text": "weight", "start": 210, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "In GBM primary cell cultures, tumor cells with nuclear localization of N-CoR demonstrate an undifferentiated phenotype, but are subject to astroglial differentiation upon exposure to agents promoting phosphorylation of N-CoR and its subsequent translocation to the cytoplasm.", "output": {"entities": {"gene": [{"text": "N-CoR", "start": 71, "end": 76}], "disease": [{"text": "translocation", "start": 244, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "In our immunohistochemical analysis, performed on 89 primary and metastatic central nervous system tumors, we found that CRX is strongly expressed by normal pineal tissue as well as by pineal parenchymal tumors.", "output": {"entities": {"gene": [{"text": "CRX", "start": 121, "end": 124}], "disease": [{"text": "central nervous system tumors", "start": 76, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We investigated polymorphisms of the histamine H1 (HRH1) and muscarinic acetylcholine receptor M3 (CHRM3) receptor genes for an association with body mass index (BMI) and glycated hemoglobin (HbA1c).", "output": {"entities": {"gene": [{"text": "CHRM3", "start": 99, "end": 104}], "disease": [{"text": "body mass index", "start": 145, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The protein ENH is a cytoplasmic sequestration factor for Id2 in normal and tumor cells from the nervous system.", "output": {"entities": {"gene": [{"text": "Id2", "start": 58, "end": 61}], "disease": [{"text": "nervous system", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "It demonstrated that apoM expression was significantly positively correlated to the placental weight, fetal birth weight, pregestational body mass index (BMI), weight gain during pregnancy, maternal weight, maternal BMI and the mRNA levels of IGF-IR as well as IGF-IIR.", "output": {"entities": {"gene": [{"text": "IGF", "start": 243, "end": 246}], "disease": [{"text": "birth weight", "start": 108, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We conclude that genetic variation in 5HTR2C may be associated with HPA axis activation and stimulated by emotional stress, and also with both psychological and physiological endophenotypes that increase the risk of cardiovascular disease and type-2 diabetes.", "output": {"entities": {"gene": [{"text": "HPA", "start": 68, "end": 71}], "disease": [{"text": "emotional stress", "start": 106, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In classic interstitial cystitis samples nonulcerative portions demonstrated a significant increase in the expression of TRPA1, TRPM2 and 8, TRPV1 and 2, ASIC1, NGF and CXCL9, and a significant decrease in UPK3A and TRPV4.", "output": {"entities": {"gene": [{"text": "TRPM2", "start": 128, "end": 133}], "disease": [{"text": "interstitial cystitis", "start": 11, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Analysis of human corneal scar tissue and transforming growth factor (TGF)-β1-induced corneal myofibroblasts showed a 13-and 4-fold increase of miR-145, respectively, compared with healthy cornea and nonstimulated fibroblasts (p < 0. 01).", "output": {"entities": {"gene": [{"text": "miR-145", "start": 144, "end": 151}], "disease": [{"text": "corneal scar", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "However, combined analysis of the angiotensin I-converting enzyme gene I/D polymorphism and angiotensinogen gene M235T polymorphism genotypes suggested an association with left ventricular mass (g m (-2)) (P = 0. 023).", "output": {"entities": {"gene": [{"text": "angiotensin I-converting enzyme", "start": 34, "end": 65}], "disease": [{"text": "left ventricular mass", "start": 172, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Specificity experiments showed the ability of the rbp2 qPCR assay to detect low-levels of P. ovale in the presence of additional malaria parasite species, including P. falciparum, P. vivax, and P. malariae.", "output": {"entities": {"gene": [{"text": "rbp2", "start": 50, "end": 54}], "disease": [{"text": "malaria", "start": 129, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Hyperparathyroidism (HPT) is a common endocrine disorder with incompletely understood etiology, characterized by enlarged hyperactive parathyroid glands and increased serum concentrations of parathyroid hormone and ionized calcium.", "output": {"entities": {"gene": [{"text": "HPT", "start": 21, "end": 24}], "disease": [{"text": "hyperactive", "start": 122, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In this study, we carried out the first screening of GLE1 in ALS patients (173 familial and 760 sporadic) and identified 2 deleterious mutations (1 splice site and 1 nonsense mutation) and 1 missense mutation.", "output": {"entities": {"gene": [{"text": "GLE1", "start": 53, "end": 57}], "disease": [{"text": "sporadic", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Five inborn errors affecting folate transport and metabolism have been well studied: hereditary folate malabsorption, caused by mutations in the gene encoding the proton-coupled folate transporter (SLC46A1); glutamate formiminotransferase deficiency, caused by mutations in the FTCD gene; methylenetetrahydrofolate reductase deficiency, caused by mutations in the MTHFR gene; and functional methionine synthase deficiency, either as the result of mutations affecting methionine synthase itself (cblG, caused by mutations in the MTR gene) or affecting the accessory protein methionine synthase reductase (cblE, caused by mutations in the MTRR gene).", "output": {"entities": {"gene": [{"text": "MTHFR gene", "start": 364, "end": 374}], "disease": [{"text": "glutamate formiminotransferase deficiency", "start": 208, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "Here we show that melanoma cells favor the expression of MITF mRNA with shorter 3'-UTR.", "output": {"entities": {"gene": [{"text": "UTR", "start": 83, "end": 86}], "disease": [{"text": "melanoma", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1).", "output": {"entities": {"gene": [{"text": "SWI", "start": 166, "end": 169}], "disease": [{"text": "emphysema", "start": 21, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Up-regulated expression of MICA and proinflammatory cytokines in skin biopsies from patients with seborrhoeic dermatitis.", "output": {"entities": {"gene": [{"text": "MICA", "start": 27, "end": 31}], "disease": [{"text": "seborrhoeic dermatitis", "start": 98, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The purpose of our study was to evaluate the expression and correlation of heparanase and VEGF in hypoxia-induced retinal neovascularization.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 90, "end": 94}], "disease": [{"text": "hypoxia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Finally, PAFR antagonist PCA4248 inhibited the development of A375SM lung metastasis in nude mice.", "output": {"entities": {"gene": [{"text": "PAFR", "start": 9, "end": 13}], "disease": [{"text": "lung metastasis", "start": 69, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The Ct-OATP1B3 functional expression in colon cancer cells was then examined by Western blotting and transport analyses.", "output": {"entities": {"gene": [{"text": "OATP1B3", "start": 7, "end": 14}], "disease": [{"text": "colon cancer", "start": 40, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OATP1B3", "start": 7, "end": 14}, "tail": {"text": "colon cancer", "start": 40, "end": 52}}]}}, "schema": []}
{"input": "Involvement of NMDAR2A tyrosine phosphorylation in depression-related behaviour.", "output": {"entities": {"gene": [{"text": "NMDAR2A", "start": 15, "end": 22}], "disease": [{"text": "depression", "start": 51, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NMDAR2A", "start": 15, "end": 22}, "tail": {"text": "depression", "start": 51, "end": 61}}]}}, "schema": []}
{"input": "A novel stable polyalanine [poly (A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly (A)-harbouring transcription factors depends on a critical repeat length?", "output": {"entities": {"gene": [{"text": "HOXA13", "start": 55, "end": 61}], "disease": [{"text": "hand-foot-genital syndrome", "start": 83, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXA13", "start": 55, "end": 61}, "tail": {"text": "hand-foot-genital syndrome", "start": 83, "end": 109}}]}}, "schema": []}
{"input": "The incidence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC) and hyperparathyroidism (HPT) in the 37 MEN2A patients was 91. 9, 56. 8 and 10. 8%, respectively; the onset of MTC in MEN2A patients was earlier than that of PCC and HPT.", "output": {"entities": {"gene": [{"text": "HPT", "start": 100, "end": 103}], "disease": [{"text": "pheochromocytoma", "start": 52, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Our results show a loss of anxiety-related behavior and a loss of aversion in the CPA model in beta2 KO mice, whereas alpha7 and alpha5 KO mice displayed a loss of nicotine withdrawal-induced hyperalgesia and a reduction in somatic signs, respectively.", "output": {"entities": {"gene": [{"text": "beta2", "start": 95, "end": 100}], "disease": [{"text": "nicotine withdrawal", "start": 164, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "This study was conducted to determine the frequency of genetic instability [defined as microsatellite instability (MSI)] and to evaluate the sensitivity/specificity of immunohistochemistry in predicting the deficiency in MMR genes in renal cortical tumors.", "output": {"entities": {"gene": [{"text": "MMR", "start": 221, "end": 224}], "disease": [{"text": "microsatellite instability", "start": 87, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.", "output": {"entities": {"gene": [{"text": "PVRL1", "start": 13, "end": 18}], "disease": [{"text": "cleft lip", "start": 48, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PVRL1", "start": 13, "end": 18}, "tail": {"text": "cleft lip", "start": 48, "end": 57}}]}}, "schema": []}
{"input": "We found no correlation between LRP levels and either presence of the disease or cognitive decline.", "output": {"entities": {"gene": [{"text": "LRP", "start": 32, "end": 35}], "disease": [{"text": "cognitive decline", "start": 81, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We show that kindlin-3 regulates c-Myc protein expression in the human chronic myeloid leukemia cell line K562.", "output": {"entities": {"gene": [{"text": "kindlin-3", "start": 13, "end": 22}], "disease": [{"text": "chronic myeloid leukemia", "start": 71, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Chloride-proton exchange by the lysosomal anion transporter ClC-7/Ostm1 is of pivotal importance for the physiology of lysosomes and bone resorption.", "output": {"entities": {"gene": [{"text": "ClC-7", "start": 60, "end": 65}], "disease": [{"text": "bone resorption", "start": 133, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Similarly, inhibition of smoke-induced MUC1-N glycosylation using adenoviral shRNA directed against N-acetyl-galactosaminyl transferase-6 (GALNT6, an enzyme that controls the initiating step of O-glycosylation) successfully suppressed MUC1-C/p120ctn interaction, prevented E-cad degradation and maintained cellular polarity in response to smoke.", "output": {"entities": {"gene": [{"text": "GALNT6", "start": 139, "end": 145}], "disease": [{"text": "cad", "start": 275, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "By activating specific receptors (likely AM2) and the PI3K/Akt/GSK3beta signaling pathway, AM could play a significant role in long-lasting heat hypersensitivity and inflammatory heat hyperalgesia.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 54, "end": 58}], "disease": [{"text": "hypersensitivity", "start": 145, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "To examine the involvement of DcR3 in the immune evasions of virus-associated lymphoma, we analyzed the amplification and expression of DcR3, using dot blot and in situ hybridization (ISH), in 45 cases, which included 17 cases with Epstein-Barr virus (EBV)-associated lymphoma (seven pyothorax-associated B-cell lymphomas (PAL); ten natural killer lymphoma (NKL)), seven cases with adult T-cell leukemia lymphoma (ATLL), 13 Hodgkin' s disease (eight EBV-associated cases; five non-EBV-associated cases), and eight control cases (three reactive lymphadenopathy; five non-EBV-associated-B-cell lymphoma).", "output": {"entities": {"gene": [{"text": "DcR3", "start": 30, "end": 34}], "disease": [{"text": "pyothorax", "start": 284, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "The presence of dyskinetic movements in individuals with acquired microcephaly could be a manifestation of periventricular nodular heterotopia due to ARFGEF2 mutation.", "output": {"entities": {"gene": [{"text": "ARFGEF2", "start": 150, "end": 157}], "disease": [{"text": "periventricular nodular heterotopia", "start": 107, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARFGEF2", "start": 150, "end": 157}, "tail": {"text": "periventricular nodular heterotopia", "start": 107, "end": 142}}]}}, "schema": []}
{"input": "We show that melanoma cells cross-present, in an alpha v beta3-dependent manner, an antigen derived from secreted matrix metalloproteinase-2 (MMP-2) to human leukocyte antigen A * 0201-restricted T cells.", "output": {"entities": {"gene": [{"text": "beta3", "start": 57, "end": 62}], "disease": [{"text": "melanoma", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Several mutations in a gene encoding a glucose transporter, GLUT2, have recently been reported in patients with FBS.", "output": {"entities": {"gene": [{"text": "GLUT2", "start": 60, "end": 65}], "disease": [{"text": "FBS", "start": 112, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT2", "start": 60, "end": 65}, "tail": {"text": "FBS", "start": 112, "end": 115}}]}}, "schema": []}
{"input": "It seems therefore, that the development of oral squamous cell carcinoma leads to polarization of cytokine gene expression that is skewed towards the Th1-like response in the early stage.", "output": {"entities": {"gene": [{"text": "Th1-like", "start": 150, "end": 158}], "disease": [{"text": "squamous cell carcinoma", "start": 49, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION: The IL-32β-VEGF-STAT3 pathway represents an additional pathway that mediates the migration and invasion of breast cancer cells under the conditions of normoxia and hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 23, "end": 27}], "disease": [{"text": "hypoxia", "start": 176, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "The TFG sequence is fused to the 3' end of NTRK1, generating the TRK-T3 fusion transcript found in papillary thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "TFG", "start": 4, "end": 7}], "disease": [{"text": "papillary thyroid carcinoma", "start": 99, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TFG", "start": 4, "end": 7}, "tail": {"text": "papillary thyroid carcinoma", "start": 99, "end": 126}}]}}, "schema": []}
{"input": "In conclusion, SLC7A10 had no apparent degree of association with schizophrenia as a candidate susceptibility gene in the disease per se.", "output": {"entities": {"gene": [{"text": "SLC7A10", "start": 15, "end": 22}], "disease": [{"text": "schizophrenia", "start": 66, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC7A10", "start": 15, "end": 22}, "tail": {"text": "schizophrenia", "start": 66, "end": 79}}]}}, "schema": []}
{"input": "Immunochemical staining of two glioma cell lines, U251 and U87, indicated intrinsic differences in JMJD3 expression levels that were reflected in changes in cell phenotype and variations associated with cellular senescence, including senescence-associated β-galactosidase (SA-β-gal) activity and the senescence-associated secretory phenotype (SASP).", "output": {"entities": {"gene": [{"text": "U87", "start": 59, "end": 62}], "disease": [{"text": "glioma", "start": 31, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Since the haplotype of the minor alleles PLIN1-4, PLIN5-7 and PLIN6, was related to body-weight regulation at a lower level of body-weight in the men as well in the women we conclude that the PLIN1-4, 6, and 5-7 locus appears as a genetic influencer of obesity risk in humans.", "output": {"entities": {"gene": [{"text": "PLIN5", "start": 50, "end": 55}], "disease": [{"text": "weight", "start": 89, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We found that both clarithromycin and dexamethasone up-regulated the production of anti-inflammatory mediators (Clara cell 10-kDa protein and interleukin (IL)-10), whereas down-regulated the production of Th2 response and eosinophilia promoting molecules (thymic stromal lymphopoietin, IL-25, IL-33, CD80, CD86, OX40 ligand, programmed cell death ligand 1, CCL17, CCL22, CCL11, CCL5, IL-5, IL-13, and eosinophilic cationic protein) and Th1 response and neutrophilia promoting molecules (CXCL8, CXCL5, CXCL10, CXCL9, interferon-γ, and IL-12), from sinonasal mucosa from distinct phenotypic CRS.", "output": {"entities": {"gene": [{"text": "IL-25", "start": 286, "end": 291}], "disease": [{"text": "neutrophilia", "start": 453, "end": 465}]}, "relations": {}}, "schema": []}
{"input": "The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor.", "output": {"entities": {"gene": [{"text": "nerve growth factor receptor", "start": 162, "end": 190}], "disease": [{"text": "sensory disorder", "start": 58, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Mammary tumors in mice conditionally mutant for Brca1 exhibit gross genomic instability and centrosome amplification yet display a recurring distribution of genomic imbalances that is similar to human breast cancer.", "output": {"entities": {"gene": [{"text": "Brca1", "start": 48, "end": 53}], "disease": [{"text": "genomic instability", "start": 68, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Although the biophysical models and biochemical signaling pathways behind cell electrotaxis have been investigated in numerous normal cells and cancer cells, the molecular signaling mechanisms in CL1 lung adenocarcinoma cells have not been identified.", "output": {"entities": {"gene": [{"text": "CL1", "start": 196, "end": 199}], "disease": [{"text": "lung adenocarcinoma", "start": 200, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the frequency of the Asn386Ser allele that contained Ser386 in glioma patients was not statistically different from its frequency in individuals without disease, and no significant association was observed between the PCAF polymorphisms and the presence or absence of p53 mutations in the tumors.", "output": {"entities": {"gene": [{"text": "PCAF", "start": 228, "end": 232}], "disease": [{"text": "glioma", "start": 73, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patients (61 familial and 73 sporadic) and identified causal mutations in three novel genes (PMVK, MVD, and FDPS) in addition to MVK in the mevalonate pathway.", "output": {"entities": {"gene": [{"text": "FDPS", "start": 221, "end": 225}], "disease": [{"text": "sporadic", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Multifactor dimensionality reduction (MDR) analysis revealed two-way and three-way interactions between CD3EAP rs735482 and smoking and between NFKB1 rs28362491, PPP1R13L rs1970764, and smoking.", "output": {"entities": {"gene": [{"text": "CD3EAP", "start": 104, "end": 110}], "disease": [{"text": "smoking", "start": 124, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "TCL1B is overexpressed in ERalpha-positive compared with ERalpha-negative breast cancers and in lung metastasis-free breast cancers.", "output": {"entities": {"gene": [{"text": "TCL1B", "start": 0, "end": 5}], "disease": [{"text": "metastasis", "start": 101, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TCL1B", "start": 0, "end": 5}, "tail": {"text": "metastasis", "start": 101, "end": 111}}]}}, "schema": []}
{"input": "We found that hypoxia, but not UVR, up-regulates VEGF mRNA expression and protein release in these melanoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Clinically, calf muscle atrophy and pes cavus are features that are highly suggestive of DNM2-CNM among all CNMs.", "output": {"entities": {"gene": [{"text": "DNM2", "start": 89, "end": 93}], "disease": [{"text": "muscle atrophy", "start": 17, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "In addition to uric acid, XOR products may comprise reactive oxygen and nitrogen species that have many biologic effects, including inflammation, endothelial dysfunction, and cytotoxicity, as well as mutagenesis and induction of proliferation.", "output": {"entities": {"gene": [{"text": "XOR", "start": 26, "end": 29}], "disease": [{"text": "inflammation", "start": 132, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "HLA-DR1 (46%) and DR6 (20%) seemed more common in ulcerative colitis than in controls.", "output": {"entities": {"gene": [{"text": "DR6", "start": 18, "end": 21}], "disease": [{"text": "ulcerative colitis", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Integration of the 2B4 endodomain into T-cell receptor zeta chimeric receptors significantly enhanced all aspects of the NK cell activation response to antigen-expressing leukemia or neuroblastoma cells, including CD25 up-regulation, secretion of IFN-gamma and tumor necrosis factor-alpha, release of cytolytic granules, and growth inhibition, and overcame NK cell resistance of autologous leukemia cells while maintaining antigen specificity.", "output": {"entities": {"gene": [{"text": "2B4", "start": 19, "end": 22}], "disease": [{"text": "neuroblastoma", "start": 183, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "In total, in 13 patients with hypochromia and inclusion bodies (IBs) the α-globin gene cluster was analyzed and in 13 patients with increased fetal hemoglobin levels with or without hypochromia the β-globin gene cluster was examined.", "output": {"entities": {"gene": [{"text": "β-globin", "start": 198, "end": 206}], "disease": [{"text": "hypochromia", "start": 30, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "However, inhibition of the expression of VEGF, but not of FGF-2, affects also vessel maturation and functionality, leading to tumor hypoxia and necrosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 41, "end": 45}], "disease": [{"text": "necrosis", "start": 144, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Linkage disequilibrium between the polymorphism and ischaemic heart disease was tested using the combined transmission disequilibrium test (TDT)/sib-TDT (cTDT) and pedigree disequilibrium test (PDT).", "output": {"entities": {"gene": [{"text": "TDT", "start": 140, "end": 143}], "disease": [{"text": "ischaemic heart disease", "start": 52, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.", "output": {"entities": {"gene": [{"text": "ANKH", "start": 111, "end": 115}], "disease": [{"text": "mild", "start": 65, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Stable re-expression of functional CXCL12 in ligand null cells increased orthotopic primary tumor growth in the mammary fat-pad model of tumorigenesis.", "output": {"entities": {"gene": [{"text": "CXCL12", "start": 35, "end": 41}], "disease": [{"text": "tumorigenesis", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "There is evidence of a prominent role of Src in tumor progression-related events such as the epithelial-mesenchymal transition (EMT) and the development of metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 128, "end": 131}], "disease": [{"text": "tumor progression", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Both FOXE1 and NKX2-1 were associated with the increased risk of sporadic Japanese PTC.", "output": {"entities": {"gene": [{"text": "FOXE1", "start": 5, "end": 10}], "disease": [{"text": "PTC", "start": 83, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXE1", "start": 5, "end": 10}, "tail": {"text": "PTC", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "In this group of infantile NPHP patients, mutations of NPHP3 were prevalent, whereas mutation of NPHP2 was absent.", "output": {"entities": {"gene": [{"text": "NPHP3", "start": 55, "end": 60}], "disease": [{"text": "NPHP", "start": 27, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NPHP3", "start": 55, "end": 60}, "tail": {"text": "NPHP", "start": 27, "end": 31}}]}}, "schema": []}
{"input": "Of particular interest is therapy for KS, breast cancer, melanoma, and other cancers in which integrin alpha (v) beta3 is expressed on both angiogenic endothelial cells and tumor cells, which would allow a dual antiangiogenic and antitumor strike with a single drug.", "output": {"entities": {"gene": [{"text": "beta3", "start": 113, "end": 118}], "disease": [{"text": "melanoma", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Recently, GRP has been implicated in several psychiatric conditions, in the maintenance of circadian rhythm, in spinal transmission of the itch sensation, and in inflammation and wound repair.", "output": {"entities": {"gene": [{"text": "GRP", "start": 10, "end": 13}], "disease": [{"text": "circadian rhythm", "start": 91, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We identified three novel and one previously described GJA1 mutation in two large ODDD families and two sporadic ODDD cases.", "output": {"entities": {"gene": [{"text": "GJA1", "start": 55, "end": 59}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Two common polymorphisms (LTalphaNcoI and TNFalpha-308) in the TNF gene complex were studied in 600 subjects from 131 Italian families with atopic asthmatic children.", "output": {"entities": {"gene": [{"text": "TNF gene", "start": 63, "end": 71}], "disease": [{"text": "atopic", "start": 140, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "A goiter-developmental model incorporating genetic (MIF SNP rs755622) and environmental risk factors (gender, radioiodine treatment, thyroid gland surgery and vitiligo) significantly increased the prediction accuracy.", "output": {"entities": {"gene": [{"text": "MIF", "start": 52, "end": 55}], "disease": [{"text": "goiter", "start": 2, "end": 8}]}, "relations": {}}, "schema": []}
{"input": "Serum hTERT mRNA showed higher values in patients with HCC than those with chronic liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 55, "end": 58}], "disease": [{"text": "liver diseases", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Spectral karyotyping (SKY) analysis modified this interpretation to a 3-way translocation involving chromosomes 8, 17, and 21 and identified a masked type of variant t (8; 21) (q22; q22) translocation.", "output": {"entities": {"gene": [{"text": "SKY", "start": 22, "end": 25}], "disease": [{"text": "translocation", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Schwannomatosis (MIM 162091) is a condition predisposing to the development of central and peripheral schwannomas; most cases are sporadic without a clear family history but a few families with a clear autosomal dominant pattern of transmission have been described.", "output": {"entities": {"gene": [{"text": "MIM", "start": 17, "end": 20}], "disease": [{"text": "schwannomas", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of Bcl-xl by hepatocyte growth factor in human mesothelioma cells involves ETS transcription factors.", "output": {"entities": {"gene": [{"text": "Bcl-xl", "start": 17, "end": 23}], "disease": [{"text": "mesothelioma", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Our results confirm that HANAC syndrome is a distinct clinical entity within the COL4A1-related disorders, which is characterized by systemic involvement and usually asymptomatic brain disease.", "output": {"entities": {"gene": [{"text": "COL4A1", "start": 81, "end": 87}], "disease": [{"text": "HANAC syndrome", "start": 25, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL4A1", "start": 81, "end": 87}, "tail": {"text": "HANAC syndrome", "start": 25, "end": 39}}]}}, "schema": []}
{"input": "Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.", "output": {"entities": {"gene": [{"text": "SPATA16", "start": 23, "end": 30}], "disease": [{"text": "globozoospermia", "start": 76, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPATA16", "start": 23, "end": 30}, "tail": {"text": "globozoospermia", "start": 76, "end": 91}}]}}, "schema": []}
{"input": "Here we show that Mtmr13 loss leads to axonal degeneration in sciatic nerves of older mice.", "output": {"entities": {"gene": [{"text": "Mtmr13", "start": 18, "end": 24}], "disease": [{"text": "axonal degeneration", "start": 39, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.", "output": {"entities": {"gene": [{"text": "ATP-binding cassette 1", "start": 37, "end": 59}], "disease": [{"text": "tangier disease", "start": 68, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP-binding cassette 1", "start": 37, "end": 59}, "tail": {"text": "tangier disease", "start": 68, "end": 83}}]}}, "schema": []}
{"input": "In addition, this SNP was significantly and positively associated with increased body mass index (BMI), BMI z-score, weight, waist circumference, plasma γ-glutamyl transpeptidase and plasma active plasminogen activator inhibitor 1.", "output": {"entities": {"gene": [{"text": "plasminogen activator inhibitor 1", "start": 197, "end": 230}], "disease": [{"text": "weight", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis that is caused by mutations in the VPS13A gene.", "output": {"entities": {"gene": [{"text": "VPS13A gene", "start": 179, "end": 190}], "disease": [{"text": "neurodegeneration", "start": 91, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Recently, exercise testing has been shown to uncover epsilon waves in asymptomatic patients carrying mutations in the PKP2 gene.", "output": {"entities": {"gene": [{"text": "PKP2 gene", "start": 118, "end": 127}], "disease": [{"text": "asymptomatic", "start": 70, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Several LAAs are expressed in CML and therefore are candidate structures for specific immunotherapies: bcr-abl (100%), G250 (24%), hTERT (53%), MPP11 (91%), NEWREN60 (94%), PRAME (62%), Proteinase3 (71%), RHAMM/CD168 (83%), and WT1 (53%), but not BAGE, MAGE-A1, SSX2, or NY-ESO-1.", "output": {"entities": {"gene": [{"text": "G250", "start": 119, "end": 123}], "disease": [{"text": "CML", "start": 30, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "G250", "start": 119, "end": 123}, "tail": {"text": "CML", "start": 30, "end": 33}}]}}, "schema": []}
{"input": "This gene fusion is caused by tandem duplication on 17q23 and appears to be an indicator of local genomic instability altering the expression of oncogenic components such as MIR21 and RPS6KB1.", "output": {"entities": {"gene": [{"text": "MIR21", "start": 174, "end": 179}], "disease": [{"text": "genomic instability", "start": 98, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.", "output": {"entities": {"gene": [{"text": "NDUFB11", "start": 13, "end": 20}], "disease": [{"text": "microphthalmia with linear skin defects syndrome", "start": 99, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDUFB11", "start": 13, "end": 20}, "tail": {"text": "microphthalmia with linear skin defects syndrome", "start": 99, "end": 147}}]}}, "schema": []}
{"input": "In conclusion, in vitro most pancreatic ductal carcinomas show a distinct VEGF related angiogenic potential, as demonstrated by 2-and 3-D endothelial cell proliferation, which may be promoted by severe hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 74, "end": 78}], "disease": [{"text": "hypoxia", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "In the NEWMOOD cohort polymorphisms of the genes of the serotonin transporter, 5-HT1A, 5-HT1B and 5-HT2A and endocannabinoid CB1 receptors, tryptophan hydroxylase, CREB1, BDNF and GIRK provide evidence for the involvement of these genes in the development of depression.", "output": {"entities": {"gene": [{"text": "5-HT1B", "start": 87, "end": 93}], "disease": [{"text": "depression", "start": 259, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT1B", "start": 87, "end": 93}, "tail": {"text": "depression", "start": 259, "end": 269}}]}}, "schema": []}
{"input": "These data suggest that the suppressive effect of PGDS on the lung injury could be partly mediated by edema formation and inhibition of genes involved in the fibrotic change.", "output": {"entities": {"gene": [{"text": "PGDS", "start": 50, "end": 54}], "disease": [{"text": "edema", "start": 102, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "PKR-mediated apoptosis in CFS individuals may contribute to the pathogenesis and the fatigue symptomatology associated with CFS.", "output": {"entities": {"gene": [{"text": "PKR", "start": 0, "end": 3}], "disease": [{"text": "fatigue", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The expression of VEGF and Glut1, which are known HIF-dependent genes, is also strongly induced under hypoxic conditions in gastric and pancreatic cancer cell lines.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 18, "end": 22}], "disease": [{"text": "hypoxic", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB.", "output": {"entities": {"gene": [{"text": "CHKB", "start": 146, "end": 150}], "disease": [{"text": "Proximal myopathy with focal depletion of mitochondria", "start": 0, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHKB", "start": 146, "end": 150}, "tail": {"text": "Proximal myopathy with focal depletion of mitochondria", "start": 0, "end": 54}}]}}, "schema": []}
{"input": "Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann' s thrombasthenia.", "output": {"entities": {"gene": [{"text": "GPIIb", "start": 29, "end": 34}], "disease": [{"text": "Glanzmann' s thrombasthenia", "start": 64, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPIIb", "start": 29, "end": 34}, "tail": {"text": "Glanzmann' s thrombasthenia", "start": 64, "end": 91}}]}}, "schema": []}
{"input": "Because AMPK is implicated in myocardial ischemia-reperfusion (I-R) injury, we reasoned that CRBN might play a role in the pathology of myocardial I-R through regulation of AMPK activity.", "output": {"entities": {"gene": [{"text": "CRBN", "start": 93, "end": 97}], "disease": [{"text": "myocardial ischemia", "start": 30, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Two AIM cases (5%) were negative for p16 and positive for Ki-67 in the area adjacent to an ulcer, representing regeneration.", "output": {"entities": {"gene": [{"text": "AIM", "start": 4, "end": 7}], "disease": [{"text": "ulcer", "start": 91, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to test whether increased lipolysis and FFA levels induced by insulin withdrawal are accompanied by increased adipose tissue (AT) contents of adipose triglyceride lipase (ATGL) and/or altered intracellular ATGL regulation.", "output": {"entities": {"gene": [{"text": "ATGL", "start": 189, "end": 193}], "disease": [{"text": "increased adipose tissue", "start": 118, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Hemangioblastomas are highly vascular tumors of the central nervous system that overexpress the hypoxia-inducible gene, vascular endothelial growth factor (VEGF), as a consequence of mutational inactivation of the von Hippel-Lindau tumor suppressor gene (VHL).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 156, "end": 160}], "disease": [{"text": "hypoxia", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We further show that transgenic mice overexpressing the RCAN1-1L protein exhibit accumulation of hyperphosphorylated tau protein (AT8 antibody), an early precursor to the formation of neurofibrillary tangles and neurodegeneration of the kind seen in Alzheimer disease.", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 56, "end": 61}], "disease": [{"text": "neurodegeneration", "start": 212, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Integrin chains, in particular beta4, can promote invasion in other cancers.", "output": {"entities": {"gene": [{"text": "beta4", "start": 31, "end": 36}], "disease": [{"text": "cancers", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In investigating genotype-phenotype correlations, we screened five Japanese families with PMD for PLP gene mutations and compared their clinical manifestations.", "output": {"entities": {"gene": [{"text": "PLP", "start": 98, "end": 101}], "disease": [{"text": "PMD", "start": 90, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLP", "start": 98, "end": 101}, "tail": {"text": "PMD", "start": 90, "end": 93}}]}}, "schema": []}
{"input": "To understand the role of telomere dynamics in the development of hepatocellular carcinoma (HCC), we examined the length of terminal restriction fragment (TRF), as an indicator for telomere length, in HCC and surrounding tissues with chronic active hepatitis (CAH) or liver cirrhosis (LC).", "output": {"entities": {"gene": [{"text": "TRF", "start": 155, "end": 158}], "disease": [{"text": "chronic active hepatitis", "start": 234, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "This study was conducted to determine the prognostic significance of the human papillomavirus (HPV) genotype using the HPV DNA chip (HDC) test and the HPV viral load by the hybrid capture II assay (HC2) in FIGO stage IB-IIA cervical cancer undergoing radical hysterectomy.", "output": {"entities": {"gene": [{"text": "HC2", "start": 198, "end": 201}], "disease": [{"text": "viral load", "start": 155, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We investigated mechanisms contributing to R5 envelope glycoprotein (Env)-mediated cellular apoptosis by constructing a panel of retroviral vectors engineered to co-express GFP and R5 Envs derived from two HIV-1-infected subjects spanning asymptomatic (Early, E-R5 Envs) to late stages of infection (Late, L-R5 Envs).", "output": {"entities": {"gene": [{"text": "envelope glycoprotein", "start": 46, "end": 67}], "disease": [{"text": "asymptomatic", "start": 239, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.", "output": {"entities": {"gene": [{"text": "FUS", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Analyzing the risk of variant LIG4 Ile658Val genotypes for cervical carcinoma of different histologic types or HPV infection status, we found striking similarities between the squamous cell carcinoma group and the HPV-positive group and the overall carcinoma.", "output": {"entities": {"gene": [{"text": "LIG4", "start": 30, "end": 34}], "disease": [{"text": "carcinoma", "start": 68, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) translocation (MBR bcl-2-JH) and IgH rearrangement (FR3/JH) were detected by polymerase chain reaction (PCR) in peripheral mononuclear cells.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 34, "end": 39}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The t (12; 21) translocation that generates the ETV6-RUNX1 (TEL-AML1) fusion gene, is the most common chromosomal rearrangement in childhood cancer and is exclusively associated with B-cell precursor acute lymphoblastic leukemia (BCP-ALL).", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 53, "end": 58}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "F. prausnitzii, B. longum and F. prausnitzii supernatant clearly facilitated the induction of IL-10 and TGF-β1, while induced relatively mild production of IL-12p70 in both cellular and animal models.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 94, "end": 99}], "disease": [{"text": "mild", "start": 137, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "RNA expression levels of CDC2L1, CDC2L2, CCNL1, CCNL2, CSNK2A1, CSNK2A2, and CSNK2B genes in breast cancer subtypes were analyzed.", "output": {"entities": {"gene": [{"text": "CCNL2", "start": 48, "end": 53}], "disease": [{"text": "breast cancer", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Recent analyses of autosomal dominant Char syndrome, which includes, with variable penetrance, patent ductus arteriosus as well as craniofacial and hand malformations, have shown that the syndrome is caused by mutations in the TFAP2B transcription factor gene.", "output": {"entities": {"gene": [{"text": "TFAP2B", "start": 227, "end": 233}], "disease": [{"text": "malformations", "start": 153, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "This preliminary report suggests that DNA ploidy does not appear to provide any additional information concerning responsiveness to IL-2 based immunotherapy beyond that obtained by performance status and pretreatment weight in this patient population.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 132, "end": 136}], "disease": [{"text": "weight", "start": 217, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "In total, our findings indicate that cisplatin and doxorubicin can repress hypoxic induction of VEGF expression by inhibiting HIF-1 through different mechanisms.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 96, "end": 100}], "disease": [{"text": "hypoxic", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Using a dual adenovirus system, we have reexpressed ARHI in ovarian cancer and breast cancer cells that have lost ARHI expression.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 52, "end": 56}], "disease": [{"text": "adenovirus", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "To study the in vivo role of CCR7 in a novel model of pulmonary fibrosis, 1. 0 x 10 (6) primary fibroblasts grown from idiopathic pulmonary fibrosis/usual interstitial pneumonia, nonspecific interstitial pneumonia, or histologically normal biopsies were injected intravenously into C. B-17 severe combined immunodeficiency (SCID)/beige (bg) mice.", "output": {"entities": {"gene": [{"text": "CCR7", "start": 29, "end": 33}], "disease": [{"text": "severe combined immunodeficiency", "start": 290, "end": 322}]}, "relations": {}}, "schema": []}
{"input": "YY1 immunoreactivity in human colon tumor samples was found more intense in poorly differentiated tumors than in moderately and well differentiated colon cancers and lower expression levels tended to be associated with shorter survival.", "output": {"entities": {"gene": [{"text": "YY1", "start": 0, "end": 3}], "disease": [{"text": "colon tumor", "start": 30, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Study in xenografted mice further showed that CD24 (-) CD44 (+) Grp78 (+) cells exhibited highest tumorigenesis, compared with CD24 (-) CD44 (+) CD24 (+) CD44 (+) or the parental cells.", "output": {"entities": {"gene": [{"text": "CD24", "start": 46, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100), Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (' Döhle-like' bodies).", "output": {"entities": {"gene": [{"text": "MIM", "start": 76, "end": 79}], "disease": [{"text": "platelet disorders", "start": 30, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, concurrent CXCR4 + and BCL2 translocation showed dismal outcomes resembling but independent of MYC/BCL2 double-hit DLBCL.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 36, "end": 40}], "disease": [{"text": "translocation", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 145, "end": 150}], "disease": [{"text": "Dejerine-Sottas disease", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 145, "end": 150}, "tail": {"text": "Dejerine-Sottas disease", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "We then analyzed metallothionein, RCAS1, CD25, CD4, and CD68 in a sampling of 50 nasal polyps using the immunohistochemistry method.", "output": {"entities": {"gene": [{"text": "CD4", "start": 47, "end": 50}], "disease": [{"text": "nasal polyps", "start": 81, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Adolescents with early signs of diabetic angiopathy have defective IAP and activity, which are not modified by vitamin E.", "output": {"entities": {"gene": [{"text": "IAP", "start": 67, "end": 70}], "disease": [{"text": "diabetic angiopathy", "start": 32, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The hallmarks of Lynch syndrome (LS) include a positive family history of colorectal cancer (CRC), germline mutations in the DNA mismatch repair (MMR) genes, tumours with high microsatellite instability (MSI-H) and loss of MMR protein expression.", "output": {"entities": {"gene": [{"text": "MMR", "start": 146, "end": 149}], "disease": [{"text": "microsatellite instability", "start": 176, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Dopaminergic neuronal loss, reduced neurite complexity and autophagic abnormalities in transgenic mice expressing G2019S mutant LRRK2.", "output": {"entities": {"gene": [{"text": "LRRK2", "start": 128, "end": 133}], "disease": [{"text": "abnormalities", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We show here that the members of the mixed lineage kinase (MLK) family (including MLK1, MLK2, MLK3, and dual leucine zipper-bearing kinase (DLK)) are expressed in FaO rat hepatoma cells and are likely to act between p38 and TGF-beta receptor kinase in death signaling.", "output": {"entities": {"gene": [{"text": "leucine zipper-bearing kinase", "start": 109, "end": 138}], "disease": [{"text": "hepatoma", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.", "output": {"entities": {"gene": [{"text": "CPT1A", "start": 518, "end": 523}], "disease": [{"text": "CRF", "start": 0, "end": 3}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CPT1A", "start": 518, "end": 523}, "tail": {"text": "CRF", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "VZV recombinants with mutations preventing ORF11 protein binding to ORF9 protein had no effect on 6-day growth kinetics based on plaque numbers, but plaque sizes were reduced in vitro.", "output": {"entities": {"gene": [{"text": "ORF9", "start": 68, "end": 72}], "disease": [{"text": "plaque", "start": 129, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Treatment with hrACE2 increased plasma ACE2 activity, normalized blood pressure, and reduced the urinary albumin excretion in Akita Ins2 (WT/C96Y) mice in association with a decreased glomerular mesangial matrix expansion and normalization of increased alpha-smooth muscle actin and collagen III expression.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 259, "end": 278}], "disease": [{"text": "blood pressure", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we constructed a new B7-H3 deficient mouse strain (B7-H3 KO) and evaluated the functions of B7-H3 in the regulation of Th1, Th2, and Th17 subsets in experimental autoimmune encephalomyelitis (EAE), experimental asthma, and collagen-induced arthritis (CIA); these mouse models were used to predict human immune responses in multiple sclerosis, asthma, and rheumatoid arthritis, respectively.", "output": {"entities": {"gene": [{"text": "Th1", "start": 130, "end": 133}], "disease": [{"text": "asthma", "start": 222, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 49, "end": 55}], "disease": [{"text": "spondyloepimetaphyseal dysplasia, Strudwick type", "start": 65, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 49, "end": 55}, "tail": {"text": "spondyloepimetaphyseal dysplasia, Strudwick type", "start": 65, "end": 113}}]}}, "schema": []}
{"input": "We screened a family with inherited ATS for the mutation in KCNJ2, using direct DNA sequencing.", "output": {"entities": {"gene": [{"text": "KCNJ2", "start": 60, "end": 65}], "disease": [{"text": "ATS", "start": 36, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ2", "start": 60, "end": 65}, "tail": {"text": "ATS", "start": 36, "end": 39}}]}}, "schema": []}
{"input": "The effects of olmesartan or nifedipine on blood pressure (BP), bladder blood flow (BBF), urodynamic parameters, tissue levels of malondialdehyde (MDA), nuclear factor erythroid 2-related factor 2 (Nrf2), and nerve growth factor (NGF) were measured in the bladder.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 198, "end": 202}], "disease": [{"text": "blood pressure", "start": 43, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "A mutation in the c-fos gene associated with congenital generalized lipodystrophy.", "output": {"entities": {"gene": [{"text": "c-fos", "start": 18, "end": 23}], "disease": [{"text": "congenital generalized lipodystrophy", "start": 45, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "c-fos", "start": 18, "end": 23}, "tail": {"text": "congenital generalized lipodystrophy", "start": 45, "end": 81}}]}}, "schema": []}
{"input": "To evaluate the impact of dihydrofolate reductase (DHFR) and reduced folate carrier (RFC) genes on methotrexate (MTX) resistance in osteosarcoma cells in relation to retinoblastoma (RB1) gene status.", "output": {"entities": {"gene": [{"text": "MTX", "start": 113, "end": 116}], "disease": [{"text": "retinoblastoma", "start": 166, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "We suggest that high levels of DEFAS, DEFA6 (key elements in adenoma formation), MMP7 (marker of colon cancer onset and progression to metastasis), SPP1 (marker of progression) and IL8 could be used to diagnose an early stage colon cancer and to evaluate the prognostic of progression for colon tumors.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 148, "end": 152}], "disease": [{"text": "metastasis", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Similarly, OCT2 (& #8764; 2-fold) and OCT3 (& #8764; 3-fold) showed increased protein expression in the kidneys of obese patients compared with those of nonobese individuals.", "output": {"entities": {"gene": [{"text": "OCT3", "start": 38, "end": 42}], "disease": [{"text": "obese", "start": 115, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OCT3", "start": 38, "end": 42}, "tail": {"text": "obese", "start": 115, "end": 120}}]}}, "schema": []}
{"input": "Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 57, "end": 62}], "disease": [{"text": "hyper-IgE syndrome", "start": 69, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STAT3", "start": 57, "end": 62}, "tail": {"text": "hyper-IgE syndrome", "start": 69, "end": 87}}]}}, "schema": []}
{"input": "Coadministration of roscovitine and ABT-737 untethers Bak from Mcl-1 and Bcl-xL, respectively, triggering Bak activation and Bax translocation.", "output": {"entities": {"gene": [{"text": "Mcl-1", "start": 63, "end": 68}], "disease": [{"text": "translocation", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Fifteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients.", "output": {"entities": {"gene": [{"text": "ALDOB", "start": 47, "end": 52}], "disease": [{"text": "HFI", "start": 78, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALDOB", "start": 47, "end": 52}, "tail": {"text": "HFI", "start": 78, "end": 81}}]}}, "schema": []}
{"input": "The insulin resistance atherosclerosis study (IRAS) objectives, design, and recruitment results.", "output": {"entities": {"gene": [{"text": "IRAS", "start": 46, "end": 50}], "disease": [{"text": "insulin resistance", "start": 4, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "We found that HCC and adjacent non-neoplastic cirrhotic tissue have considerable overlap in gene expression patterns compared to normal liver.", "output": {"entities": {"gene": [{"text": "HCC", "start": 14, "end": 17}], "disease": [{"text": "non-neoplastic", "start": 31, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "In a double-blind clinical trial, 50 healthy volunteers were evaluated for minimal erythema dose of UVB irradiation, MED (J/cm2), skin types were assigned, and internal standard-controlled polymerase chain reaction (PCR) was used to identify their GST T1 and GST M1 genotypes.", "output": {"entities": {"gene": [{"text": "GST", "start": 248, "end": 251}], "disease": [{"text": "blind", "start": 12, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The results obtained indicate that alpha6beta1 is necessary for VEGF expression because the ability of hypoxia to activate HIF-1 and to stimulate VEGF transcription in MDA-MB-435 cells is dependent on alpha6beta1 expression by a mechanism that involves protein kinase C-alpha.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 64, "end": 68}], "disease": [{"text": "hypoxia", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Severe Meesmann' s epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.", "output": {"entities": {"gene": [{"text": "keratin 12", "start": 118, "end": 128}], "disease": [{"text": "Meesmann' s epithelial corneal dystrophy", "start": 7, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 12", "start": 118, "end": 128}, "tail": {"text": "Meesmann' s epithelial corneal dystrophy", "start": 7, "end": 47}}]}}, "schema": []}
{"input": "Inflammation in the respiratory tract of PM10sum-treated mice has been confirmed in BALf and lung parenchyma by increased PMNs percentage, increased ET-1, MPO and cytokines levels.", "output": {"entities": {"gene": [{"text": "MPO", "start": 155, "end": 158}], "disease": [{"text": "Inflammation", "start": 0, "end": 12}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MPO", "start": 155, "end": 158}, "tail": {"text": "Inflammation", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "Premitotic destruction of PLK1 disrupts centrosome separation, causing mitotic spindle asymmetry, merotelic microtubule-kinetochore attachments, lagging chromosomes, and aneuploidy.", "output": {"entities": {"gene": [{"text": "PLK1", "start": 26, "end": 30}], "disease": [{"text": "aneuploidy", "start": 170, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "t (14: 18) (q32: q21)/IGH-BCL2 was detected in 50 of 71 (70%) cases and the presence of the translocation was not associated with the poor performance of IGH assays.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 26, "end": 30}], "disease": [{"text": "translocation", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Sequencing demonstrated mutation in the NH2-terminal ATPase domain of HSC70 in 2 of 15 sporadic breast carcinomas examined.", "output": {"entities": {"gene": [{"text": "HSC70", "start": 70, "end": 75}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Transgenic mice overexpressing OCZF (OCZF-Tg) under the control of the cathepsin K promoter were generated, and bone mineral density and bone histomorphometric features were determined by peripheral quantitative computed tomography, calcein double-labeling, and specific staining for osteoclasts and osteoblasts.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 71, "end": 82}], "disease": [{"text": "bone mineral density", "start": 112, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Ad-mda7 does not alter cell surface Her-2/neu levels, but the combination of Ad-mda7 + Herceptin results in increased expression of cell surface E-cadherin with concomitant translocation of beta-catenin from the nucleus to the cell membrane.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 145, "end": 155}], "disease": [{"text": "translocation", "start": 173, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.", "output": {"entities": {"gene": [{"text": "NOTCH2", "start": 89, "end": 95}], "disease": [{"text": "Hajdu-Cheney syndrome", "start": 4, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOTCH2", "start": 89, "end": 95}, "tail": {"text": "Hajdu-Cheney syndrome", "start": 4, "end": 25}}]}}, "schema": []}
{"input": "However, patients with autism/ASP, who had taken EPA supplements, had significantly reduced PLA2 concentrations compared to unsupplemented patients with classical autism or ASP.", "output": {"entities": {"gene": [{"text": "ASP", "start": 30, "end": 33}], "disease": [{"text": "autism", "start": 23, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "On the basis of the gene expression data, the IL6 gene was identified as a potential candidate for tacrine transaminitis susceptibility.", "output": {"entities": {"gene": [{"text": "IL6 gene", "start": 46, "end": 54}], "disease": [{"text": "transaminitis", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.", "output": {"entities": {"gene": [{"text": "GNE", "start": 61, "end": 64}], "disease": [{"text": "Distal myopathy with rimmed vacuoles", "start": 0, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNE", "start": 61, "end": 64}, "tail": {"text": "Distal myopathy with rimmed vacuoles", "start": 0, "end": 36}}]}}, "schema": []}
{"input": "Loss of Fhit protein activity causes replication stress through reduced Thymidine Kinase 1 expression, increased DNA breaks, and global genome instability in normal and cancer cells.", "output": {"entities": {"gene": [{"text": "Thymidine Kinase 1", "start": 72, "end": 90}], "disease": [{"text": "genome instability", "start": 136, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We describe a female subject (DGAP100) with a 46, X, t (X; 5) (p11. 3; q35. 3) inv (5) (q35. 3q35. 1) dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate.", "output": {"entities": {"gene": [{"text": "p11", "start": 63, "end": 66}], "disease": [{"text": "hypotonia", "start": 142, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "GHRHR P9 together with 4 GH1 SNP genotypes contributed to 6 · 2% of height-SDS variation in the entire 308 NAHC.", "output": {"entities": {"gene": [{"text": "GH1", "start": 25, "end": 28}], "disease": [{"text": "height", "start": 68, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In this report, we determined how VEGF expression and release from these melanoma cell lines were affected by the following important factors associated with melanoma initiation and progression: hypoxia, UVR, activated Ras, dominant negative p53, and culture conditions mimicking radial growth phase melanoma (monolayer culture) and vertical growth phase melanoma (spheroid culture).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 34, "end": 38}], "disease": [{"text": "hypoxia", "start": 195, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "The parameters of disease activity index (DAI), percentage of positive serum anti-dsDNA antibodies, proteinuria and hematuria, and frequency of glomerular thrombi were all higher in patients with-592 AC/CC genotypes than those with AA genotype.", "output": {"entities": {"gene": [{"text": "DAI", "start": 42, "end": 45}], "disease": [{"text": "hematuria", "start": 116, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "At 12 h after dose intake, the regression model predicted a 5. 1-fold higher olanzapine plasma level in a non-smoking female patient who did not carry the UGT1A4 142T > G SNP compared to a smoking man treated with the same dose but heterozygous for UGT1A4 142T > G SNP.", "output": {"entities": {"gene": [{"text": "UGT1A4", "start": 155, "end": 161}], "disease": [{"text": "regression", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.", "output": {"entities": {"gene": [{"text": "PIK3R1", "start": 8, "end": 14}], "disease": [{"text": "recurrent sinopulmonary infections", "start": 37, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that Bcl-2 and Bcl-xL antisense treatment facilitates apoptosis in mesothelioma cells and suggest the use of Bcl-2/Bcl-xL bispecific antisense treatment in combination with cisplatin or gemcitabine for therapy of malignant pleural mesothelioma.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 39, "end": 45}], "disease": [{"text": "mesothelioma", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "However, during the preclinical and clinical trials of S1P1 modulators, the undesired activation of S1P3, a subtype of sphingosine 1-phosphate (S1P) receptors family, by S1P1 modulators often results in bradycardia in patients.", "output": {"entities": {"gene": [{"text": "S1P3", "start": 100, "end": 104}], "disease": [{"text": "bradycardia", "start": 203, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "The expression of 4 thyroid tissue-specific genes [Na +/I-symporter (NIS), thyroid peroxidase (TPO), thyroglobulin (Tg), TSH receptor (TSH-R)] as well as of the glucose transporter type 1 (Glut1) gene was analyzed in 90 human thyroid tissues Messenger ribonucleic acids were extracted from 43 thyroid carcinomas (38 papillary and 5 follicular), 24 cold adenomas, 5 Graves' thyroid tissues, 8 toxic adenomas, and 5 hyperplastic thyroid tissues; 5 normal thyroid tissues were used as reference.", "output": {"entities": {"gene": [{"text": "Glut1", "start": 189, "end": 194}], "disease": [{"text": "cold", "start": 348, "end": 352}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that NO-ASA profoundly inhibits both the expression and enzymatic activity of NOS2 and suggest that these effects may represent an important mechanism for the colon cancer chemopreventive effect of NO-ASA.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 102, "end": 106}], "disease": [{"text": "colon cancer", "start": 183, "end": 195}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS2", "start": 102, "end": 106}, "tail": {"text": "colon cancer", "start": 183, "end": 195}}]}}, "schema": []}
{"input": "Tumor Necrosis Factor Receptor Super Family 6 gene (TNFRSF6), also known as FAS, encodes the Fas antigen, a cell surface receptor mediating cell apoptosis, situated on chromosome 10q located near the region of linkage to sporadic Alzheimer' s disease (sAD).", "output": {"entities": {"gene": [{"text": "Fas antigen", "start": 93, "end": 104}], "disease": [{"text": "sporadic", "start": 221, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "The caspase recruitment domain gene CARD15/NOD2, encoding a cellular receptor involved in an NF-kappaB-mediated pathway of innate immunity, was first identified as a major susceptibility gene for Crohn' s disease (CD), and more recently, as responsible for Blau syndrome (BS), a rare autosomal-dominant trait characterized by arthritis, uveitis, skin rash and granulomatous inflammation.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 93, "end": 102}], "disease": [{"text": "uveitis", "start": 337, "end": 344}]}, "relations": {}}, "schema": []}
{"input": "Previous studies suggest that the effects of EGR1 on tumorigenesis are critically dependent on the cellular context.", "output": {"entities": {"gene": [{"text": "EGR1", "start": 45, "end": 49}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "CD97 was expressed by 44 of 50 gastric, 14 of 18 pancreatic, and 10 of 13 esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "CD97", "start": 0, "end": 4}], "disease": [{"text": "esophageal", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Primary monophasic synovial sarcoma of the duodenum with SYT/SSX2 type of translocation.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 61, "end": 65}], "disease": [{"text": "translocation", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein.", "output": {"entities": {"gene": [{"text": "RNA binding protein", "start": 68, "end": 87}], "disease": [{"text": "sarcoma", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that UCP2 and UCP4 have a modest but important involvement in the genetic etiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 26, "end": 30}], "disease": [{"text": "schizophrenia", "start": 107, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "UCP2", "start": 26, "end": 30}, "tail": {"text": "schizophrenia", "start": 107, "end": 120}}]}}, "schema": []}
{"input": "We identify 2 groups of PVNS and TGCT cases by the presence of CSF1 translocation and CSF1 expression.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 63, "end": 67}], "disease": [{"text": "translocation", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we found that GluK4 is a key mediator of excitotoxic neurodegeneration: GluK4 knockout mice showed robust neuroprotection in the CA3 region of the hippocampus following intrahippocampal injection of kainate and widespread neuroprotection throughout the hippocampus following hypoxia-ischemia.", "output": {"entities": {"gene": [{"text": "CA3", "start": 142, "end": 145}], "disease": [{"text": "ischemia", "start": 296, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "Serum samples collected from HCCLM3-R metastatic HCC tumor model at specific stages of metastasis (1 wk, 3 wks and 6 wks) were subjected to iTRAQ labeling followed by 2DLC-ESI-MS/MS analysis.", "output": {"entities": {"gene": [{"text": "ESI", "start": 172, "end": 175}], "disease": [{"text": "metastasis", "start": 87, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "These include BCL1/cyclin D1 translocation in mantle cell lymphoma, BCL2 in follicular lymphoma and BCL6 in diffuse large B-cell lymphoma.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 68, "end": 72}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 67, "end": 71}], "disease": [{"text": "Muir-Torre syndrome", "start": 80, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLH1", "start": 67, "end": 71}, "tail": {"text": "Muir-Torre syndrome", "start": 80, "end": 99}}]}}, "schema": []}
{"input": "The poliovirus receptor related-1 (PVRL1) gene encodes nectin-1, a cell-cell adhesion molecule (OMIM #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (CLPED1, OMIM #225000).", "output": {"entities": {"gene": [{"text": "poliovirus receptor", "start": 4, "end": 23}], "disease": [{"text": "ectodermal dysplasia", "start": 172, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Deletion of Gly723 in the insulin receptor substrate-1 of a patient with noninsulin-dependent diabetes mellitus.", "output": {"entities": {"gene": [{"text": "insulin receptor substrate-1", "start": 26, "end": 54}], "disease": [{"text": "noninsulin-dependent diabetes mellitus", "start": 73, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor substrate-1", "start": 26, "end": 54}, "tail": {"text": "noninsulin-dependent diabetes mellitus", "start": 73, "end": 111}}]}}, "schema": []}
{"input": "A polymorphism in the SLC30A8 gene is associated with susceptibility to type 2 diabetes, although the molecular mechanism through which this phenotype is manifest is incompletely understood.", "output": {"entities": {"gene": [{"text": "SLC30A8", "start": 22, "end": 29}], "disease": [{"text": "type 2 diabetes", "start": 72, "end": 87}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SLC30A8", "start": 22, "end": 29}, "tail": {"text": "type 2 diabetes", "start": 72, "end": 87}}]}}, "schema": []}
{"input": "Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 51, "end": 69}], "disease": [{"text": "multiple endocrine neoplasia type 2B", "start": 73, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 51, "end": 69}, "tail": {"text": "multiple endocrine neoplasia type 2B", "start": 73, "end": 109}}]}}, "schema": []}
{"input": "Duarte galactosemia is a mild to asymptomatic condition that results from partial impairment of galactose-1-phosphate uridylyltransferase (GALT).", "output": {"entities": {"gene": [{"text": "galactose-1-phosphate uridylyltransferase", "start": 96, "end": 137}], "disease": [{"text": "mild", "start": 25, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate further that knocking down Cat-1 from NIH3T3 fibroblasts expressing an activated form of Cdc42 (Cdc42 F28L), or from the human cervical carcinoma (HeLa) cell line, inhibits the ability of these cells to form colonies in soft agar, an in vitro measure of tumorgenicity.", "output": {"entities": {"gene": [{"text": "Cat-1", "start": 42, "end": 47}], "disease": [{"text": "cervical carcinoma", "start": 142, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "This suggests similarities in the mechanisms promoting genomic instability for BRCA1-and BRCA2-associated tumours, possibly relating to deficiency in DNA repair through homologous recombination.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 79, "end": 84}], "disease": [{"text": "genomic instability", "start": 55, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Insulin-induced gene 2 involvement in human adipocyte metabolism and body weight regulation.", "output": {"entities": {"gene": [{"text": "Insulin-induced gene 2", "start": 0, "end": 22}], "disease": [{"text": "body weight", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to expand these searches by looking for mutations in the death domains of FAS, FADD, TNFR, TRADD, and RIP, in the promoter region of FAS, and in the protease domain of caspase 10, in a larger variety of hematological malignancies, some of which express an apoptosis-resistant phenotype.", "output": {"entities": {"gene": [{"text": "FADD", "start": 91, "end": 95}], "disease": [{"text": "hematological malignancies", "start": 215, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 38, "end": 42}], "disease": [{"text": "dominant optic atrophy", "start": 56, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 38, "end": 42}, "tail": {"text": "dominant optic atrophy", "start": 56, "end": 78}}]}}, "schema": []}
{"input": "In addition, the NCCT genotype was a significant predictor of blood pressure, with homozygous mutant family members having significantly lower age-and gender-adjusted systolic and diastolic blood pressures than those of their wild-type relatives.", "output": {"entities": {"gene": [{"text": "NCCT", "start": 17, "end": 21}], "disease": [{"text": "blood pressure", "start": 62, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The frequency of pes cavus, scoliosis, axonal sensory neuropathy and areflexia increased with the size of GAA1, whereas some signs such as sphincter disturbances, cerebellar atrophy on MRI, amyotrophy, dysarthria and decreased vibration sense were associated with increased duration of the disease.", "output": {"entities": {"gene": [{"text": "GAA1", "start": 106, "end": 110}], "disease": [{"text": "amyotrophy", "start": 190, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "In infants with Down syndrome, concentrations of IL-8 levels were higher than in controls, whether or not corrected for total protein; NT-3 and CGRP were lower and VIP higher.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 49, "end": 53}], "disease": [{"text": "Down syndrome", "start": 16, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-8", "start": 49, "end": 53}, "tail": {"text": "Down syndrome", "start": 16, "end": 29}}]}}, "schema": []}
{"input": "Among the components of metabolic syndrome, subjects with high waist circumference or decreased high-density lipoprotein cholesterol had significantly increased serum AGF (271. 92 vs 313. 68 ng/mL, P =. 013; 271. 01 vs 310. 58 ng/mL, P =. 023, respectively).", "output": {"entities": {"gene": [{"text": "AGF", "start": 167, "end": 170}], "disease": [{"text": "waist circumference", "start": 63, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was therefore to examine the impact of G72 rs746187 and DAAO rs2111902 genotypes on brain function in schizophrenia, bipolar disorder and healthy volunteers.", "output": {"entities": {"gene": [{"text": "DAAO", "start": 78, "end": 82}], "disease": [{"text": "bipolar disorder", "start": 139, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DAAO", "start": 78, "end": 82}, "tail": {"text": "bipolar disorder", "start": 139, "end": 155}}]}}, "schema": []}
{"input": "Our results show that PDT-induced necrosis is dependent on RIP3, which forms aggregates and colocalizes with RIP1 following photosensitization.", "output": {"entities": {"gene": [{"text": "RIP3", "start": 59, "end": 63}], "disease": [{"text": "photosensitization", "start": 124, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Somatization was evaluated using the respective subscale of the Symptom Checklist SCL-90-R. Six monoaminergic genes were identified showing an involvement in pain perception and somatization according to the literature: COMT, HTR2A, SLC6A2, SLC6A4, DRD4, and TPH1.", "output": {"entities": {"gene": [{"text": "DRD4", "start": 249, "end": 253}], "disease": [{"text": "somatization", "start": 178, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) chromosomal translocation of human follicular lymphoma recombines the candidate transforming gene bcl-2, located at 18q21, with the immunoglobulin (Ig) H-chain joining region (JH) at 14q32.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 113, "end": 118}], "disease": [{"text": "chromosomal translocation", "start": 15, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "To evaluate FOXP3 polymorphisms (rs3761549, rs3761548, rs2232368, rs2232366, and rs2280883) in a group of infertile women with and without endometriosis and controls.", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 12, "end": 17}], "disease": [{"text": "infertile", "start": 106, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Seven cases of large cell lymphoma (LCL) developing simultaneously or secondarily to lymphocyte-predominant Hodgkin' s disease (nodular paragranuloma [NP]) were investigated for the presence of Epstein-Barr virus genomic material and the chromosomal translocation t (14; 18) involving the major breakpoint region of the bcl-2 gene using the polymerase chain reaction on paraffin-embedded material.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 320, "end": 330}], "disease": [{"text": "chromosomal translocation", "start": 238, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that excitatory afferent signals from the peripheral vestibular receptors, resulting from acute hypotension, release glutamate into postsynaptic neurons in the vestibular nuclei and the excitatory signals are transmitted through the GluR1 subunit of the AMPA receptors and the NR2B subunits of the NMDA receptors in the vestibular system.", "output": {"entities": {"gene": [{"text": "GluR1", "start": 255, "end": 260}], "disease": [{"text": "hypotension", "start": 118, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GluR1", "start": 255, "end": 260}, "tail": {"text": "hypotension", "start": 118, "end": 129}}]}}, "schema": []}
{"input": "Clinical, colposcopic and morphological evaluation of the localization of VIN and vulvar carcinoma stage I concomitant with intraepithelial neoplasia in other parts of the lower genital tract.", "output": {"entities": {"gene": [{"text": "VIN", "start": 74, "end": 77}], "disease": [{"text": "intraepithelial neoplasia", "start": 124, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of the inducible 70-kDa heat shock protein (HSP70) in skeletal muscle atrophy and subsequent recovery, soleus (SOL) and extensor digitorum longus (EDL) muscles from overexpressing HSP70 transgenic mice were immobilized for 7 days and subsequently released from immobilization and evaluated after 7 days.", "output": {"entities": {"gene": [{"text": "EDL", "start": 171, "end": 174}], "disease": [{"text": "skeletal muscle atrophy", "start": 78, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice.", "output": {"entities": {"gene": [{"text": "Prop1", "start": 58, "end": 63}], "disease": [{"text": "respiratory distress syndrome", "start": 25, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Ex vivo analysis of human T lymphotropic virus type 1-specific CD4 + cells by use of a major histocompatibility complex class II tetramer composed of a neurological disease-susceptibility allele and its immunodominant peptide.", "output": {"entities": {"gene": [{"text": "CD4", "start": 63, "end": 66}], "disease": [{"text": "neurological disease", "start": 152, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Our results show that Amerindians do not have association of PPAR-γ2 Ala12 and obesity; the latter was measured by waist circumference values after taken specific Amerindian normal waist parameters.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 61, "end": 65}], "disease": [{"text": "waist circumference", "start": 115, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: Within the hypoxic perinecrotic tumor area, the apoptotic fraction of endothelial cells was positively correlated with VEGFA expression (p < 0. 001).", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 128, "end": 133}], "disease": [{"text": "hypoxic", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare condition that sometimes predisposes to renal cancer.", "output": {"entities": {"gene": [{"text": "MIM", "start": 59, "end": 62}], "disease": [{"text": "uterine leiomyomata", "start": 23, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Western analysis performed on cellular fractions of resting cells and of TPA-activated cells revealed abundant expression of classical PKC-alpha (cPKC-alpha), cPKC-betaII, and atypical PKC-zeta isoforms and identified a sustained translocation of cPKC-alpha and cPKC-betaII from the cytosolic compartment to membranes.", "output": {"entities": {"gene": [{"text": "PKC-zeta", "start": 185, "end": 193}], "disease": [{"text": "translocation", "start": 230, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Increased concentrations in S100A8 (Calgranulin A), salivary proline-rich peptide P-C, and lysozyme C were detected in BALFs of asymptomatic smokers when compared to nonsmokers, whereas salivary proline-rich peptide P-D and Clara cell phospholipid-binding protein (CC10) were reduced in their concentration.", "output": {"entities": {"gene": [{"text": "Calgranulin A", "start": 36, "end": 49}], "disease": [{"text": "asymptomatic", "start": 128, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "High-molecular-weight splice variants of the CD44 transmembrane protein family have been implicated in tumorigenesis and metastasis formation.", "output": {"entities": {"gene": [{"text": "CD44", "start": 45, "end": 49}], "disease": [{"text": "weight", "start": 15, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we observed evidence that DDB2 functions as a barrier for EMT induced by hypoxia and TGF-β.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 95, "end": 100}], "disease": [{"text": "hypoxia", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The objective of the present study is to compare molecular analysis of angiogenetic factors with microvessel density (MVD) in bladder carcinoma.", "output": {"entities": {"gene": [{"text": "MVD", "start": 118, "end": 121}], "disease": [{"text": "bladder carcinoma", "start": 126, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We did not detect MEN 2 associated RET mutations in any family, but missense VHL gene mutations (V155L and R238W) were identified in two kindreds with no clinical evidence of VHL disease.", "output": {"entities": {"gene": [{"text": "VHL", "start": 77, "end": 80}], "disease": [{"text": "VHL", "start": 175, "end": 178}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VHL", "start": 77, "end": 80}, "tail": {"text": "VHL", "start": 175, "end": 178}}]}}, "schema": []}
{"input": "We conclude that mutations in EFNB1 cause CFNS.", "output": {"entities": {"gene": [{"text": "EFNB1", "start": 30, "end": 35}], "disease": [{"text": "CFNS", "start": 42, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFNB1", "start": 30, "end": 35}, "tail": {"text": "CFNS", "start": 42, "end": 46}}]}}, "schema": []}
{"input": "Gene-gene and gene-sex epistatic interactions of MiR146a, IRF5, IKZF1, ETS1 and IL21 in systemic lupus erythematosus.", "output": {"entities": {"gene": [{"text": "ETS1", "start": 71, "end": 75}], "disease": [{"text": "systemic lupus erythematosus", "start": 88, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ETS1", "start": 71, "end": 75}, "tail": {"text": "systemic lupus erythematosus", "start": 88, "end": 116}}]}}, "schema": []}
{"input": "We evaluated associations between smoking and incident colorectal cancer, overall and by microsatellite instability (MSI) phenotype (MSI-high vs MSI-low or microsatellite stable), CpG island methylator phenotype (CIMP positive or CIMP negative), and BRAF mutation status (BRAF mutation positive or BRAF mutation negative), among 37 399 participants in a population-based cohort study (the Iowa Women' s Health Study).", "output": {"entities": {"gene": [{"text": "BRAF", "start": 250, "end": 254}], "disease": [{"text": "smoking", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We conducted a population-based study to investigate the relationship between candidate genes for obesity (UCP1, UCP2, ADRA2B, ADRB3, LEPR, VDR and ESR1) and adiposity measures (body mass index, body fat percentage, weight, waist circumference and waist-hip ratio) in terms of individual gene and gene x gene interaction in models unadjusted and adjusted for covariates (age, years since menopause, educational level and total energy intake).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 134, "end": 138}], "disease": [{"text": "weight", "start": 216, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1.", "output": {"entities": {"gene": [{"text": "SAMHD1", "start": 141, "end": 147}], "disease": [{"text": "chilblain lupus", "start": 9, "end": 24}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SAMHD1", "start": 141, "end": 147}, "tail": {"text": "chilblain lupus", "start": 9, "end": 24}}]}}, "schema": []}
{"input": "The RNA-binding motif (RRM) gene on Y chromosome (RBMY), encoding a male germ cell-specific RNA-binding protein associated with spermatogenesis, was found inserted by hepatitis B virus (HBV) DNA in one childhood hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 92, "end": 111}], "disease": [{"text": "childhood hepatocellular carcinoma", "start": 202, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Novel role of IL-13 in fibrosis induced by nonalcoholic steatohepatitis and its amelioration by IL-13R-directed cytotoxin in a rat model.", "output": {"entities": {"gene": [{"text": "IL-13R", "start": 96, "end": 102}], "disease": [{"text": "fibrosis", "start": 23, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Recent investigations suggest a link between aggression in people with intellectual disabilities the functionality of the serotonin transporter.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 122, "end": 143}], "disease": [{"text": "aggression", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we found the mRNA level of hypoxia-inducible factors 1α (HIF-1α) (1. 54 ± 0. 13 fold in PC-3, p = 0. 002, 1. 62 ± 0. 12 fold in LNCaP, p = 0. 001) and HIF-1β (1. 67 ± 0. 23 fold in PC-3, p = 0. 007; 1. 75 ± 0. 26 fold in LNCaP, p = 0. 008) were upregulated in prostate cancer bone metastasis PC-3 and LNCaP cell lines in response to hypoxia, and revealed that the regulation of VEGF by HIF-1α and HIF-1β was possibly mediated by the activation of phosphatidylinositol 3-kinase pathway.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 391, "end": 395}], "disease": [{"text": "hypoxia", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In non-neoplastic mucosa, maspin was expressed in cytoplasm and cell membrane of foveolar epithelia, fundic glandular cells and pyloric glandular cells.", "output": {"entities": {"gene": [{"text": "maspin", "start": 26, "end": 32}], "disease": [{"text": "non-neoplastic", "start": 3, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "SNAP-23 and VAMP-3 contribute to the release of IL-6 and TNFα from a human synovial sarcoma cell line.", "output": {"entities": {"gene": [{"text": "SNAP", "start": 0, "end": 4}], "disease": [{"text": "synovial sarcoma", "start": 75, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that a human X-chromosomal neurological disorder characterized by intellectual disability and microcephaly is caused by a missense mutation in eIF2γ (encoded by EIF2S3), the core subunit of the heterotrimeric eIF2 complex.", "output": {"entities": {"gene": [{"text": "eIF2", "start": 157, "end": 161}], "disease": [{"text": "neurological disorder", "start": 41, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Two weeks after the aneurysm induction procedure, ETBR was rarely detected in anterior cerebral artery-olfactory artery bifurcations, but it was weakly expressed in experimental cerebral aneurysms at 1 month after the procedure, and markedly expressed at 3 months.", "output": {"entities": {"gene": [{"text": "ETBR", "start": 50, "end": 54}], "disease": [{"text": "aneurysm", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The impact of MRP was tested in vivo in a murine MSU crystal-induced peritonitis model.", "output": {"entities": {"gene": [{"text": "MRP", "start": 14, "end": 17}], "disease": [{"text": "peritonitis", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Compared with control group, the mRNA expressions of VEGF and Flk-1, and the density of neovascularization in the border area of infarct myocardium were increased in MI group and G-CSF group, whereas those in G-CSF group were significantly augmented compared with MI group (P < 0. 05).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 53, "end": 57}], "disease": [{"text": "infarct", "start": 129, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Variegate porphyria (VP) is a low-penetrance, autosomal dominant disorder characterized clinically by skin lesions and acute neurovisceral attacks that occur separately or together.", "output": {"entities": {"gene": [{"text": "Variegate porphyria", "start": 0, "end": 19}], "disease": [{"text": "VP", "start": 21, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Variegate porphyria", "start": 0, "end": 19}, "tail": {"text": "VP", "start": 21, "end": 23}}]}}, "schema": []}
{"input": "Laboratory and anthropometric measurements were included FBG, OGTT, HbA1C, lipid Profile, fasting serum visfatin, fasting serum insulin, weight, height, Body Mass Index (BMI) and waist hip ratio (WHR).", "output": {"entities": {"gene": [{"text": "visfatin", "start": 104, "end": 112}], "disease": [{"text": "waist hip ratio", "start": 179, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data suggest that hijacking of the proangiogenic property of Hey1 by LANA is an important strategy utilized by KSHV to achieve pathologic angiogenesis and that Hey1 is a potential therapeutic target in Kaposi sarcoma.", "output": {"entities": {"gene": [{"text": "Hey1", "start": 81, "end": 85}], "disease": [{"text": "pathologic angiogenesis", "start": 147, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The genes involved in the translocation t (1; 2) (p13; q37) were recently identified: the colony-stimulating factor-1 (CSF1 or M-CSF1) at 1p13 and the collagen type VI alpha-3 (COL6A3) at 2q37.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 119, "end": 123}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "To better interpret the results, we also studied four other experimental groups: the turpentine oil-induced acute-phase response (AP group), AP group followed by GdCl3 administration (AP/Gd group), CCl4-induced cirrhosis (CCl4 group) and normal group.", "output": {"entities": {"gene": [{"text": "CCl4", "start": 198, "end": 202}], "disease": [{"text": "acute-phase response", "start": 108, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Moreover, all female heterozygotes had clinical and ERG abnormalities.", "output": {"entities": {"gene": [{"text": "ERG", "start": 52, "end": 55}], "disease": [{"text": "abnormalities", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The effect of APS on glomerulonephritis rats induced by cationic Bovine Serum Albumin (C-BSA) was evaluated by flow cytometry using Nuclear Transcription Factor-kappaB (NF-kappaB) as marker.", "output": {"entities": {"gene": [{"text": "Serum Albumin", "start": 72, "end": 85}], "disease": [{"text": "glomerulonephritis", "start": 21, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Serum Albumin", "start": 72, "end": 85}, "tail": {"text": "glomerulonephritis", "start": 21, "end": 39}}]}}, "schema": []}
{"input": "Overall, the results appear to sustain the importance of the FSL rats as an animal model of depression in view of the impairment of NPY genes and the ability of fluoxetine treatment to normalize NPY-related gene expression selectively in this strain.", "output": {"entities": {"gene": [{"text": "NPY", "start": 132, "end": 135}], "disease": [{"text": "depression", "start": 92, "end": 102}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NPY", "start": 132, "end": 135}, "tail": {"text": "depression", "start": 92, "end": 102}}]}}, "schema": []}
{"input": "Moreover, reintroduction of LOXL1 and LOXL4 genes into human bladder cancer cells leads to a decrease of colony formation ability.", "output": {"entities": {"gene": [{"text": "LOXL4", "start": 38, "end": 43}], "disease": [{"text": "bladder cancer", "start": 61, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LOXL4", "start": 38, "end": 43}, "tail": {"text": "bladder cancer", "start": 61, "end": 75}}]}}, "schema": []}
{"input": "In addition, the GATA4/GATA6 double heterozygous mutant embryo model displayed a spectrum of cardiovascular malformations similar to those seen in human CDH and nitrofen-induced animal models, including ventricular and aortopulmonary septal defects and thin ventricular myocardium.", "output": {"entities": {"gene": [{"text": "GATA4", "start": 17, "end": 22}], "disease": [{"text": "aortopulmonary septal defects", "start": 219, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Here, we studied the ATP1A2 FHM2 gene in a young girl with episodes of both very severe and transient neurological symptoms that were triggered by mild head trauma as well as permanent mental retardation.", "output": {"entities": {"gene": [{"text": "ATP1A2", "start": 21, "end": 27}], "disease": [{"text": "mild", "start": 147, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Correlation and factor analyses revealed that mRNA levels for genes that did exhibit differential expression in schizophrenia (MAG, CNP, SOX10, CLDN11, and PMP2), as opposed to those that did not (MOBP and MBP), loaded on separate factors.", "output": {"entities": {"gene": [{"text": "PMP2", "start": 156, "end": 160}], "disease": [{"text": "schizophrenia", "start": 112, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PMP2", "start": 156, "end": 160}, "tail": {"text": "schizophrenia", "start": 112, "end": 125}}]}}, "schema": []}
{"input": "CA9 and CA12 mRNA levels were analyzed by semi-quantitative RT-PCR in comparison with VEGF as an indicator of hypoxia that uncouples the pVHL control.", "output": {"entities": {"gene": [{"text": "CA12", "start": 8, "end": 12}], "disease": [{"text": "hypoxia", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that a combination treatment of UCMS-IFN-beta cells and 5-FU is a potentially effective therapeutic procedure for breast cancer.", "output": {"entities": {"gene": [{"text": "IFN-beta", "start": 60, "end": 68}], "disease": [{"text": "breast cancer", "start": 137, "end": 150}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IFN-beta", "start": 60, "end": 68}, "tail": {"text": "breast cancer", "start": 137, "end": 150}}]}}, "schema": []}
{"input": "The mean TRF length tended to decrease as the mucosa underwent chronic atrophy gastritis, intestinal metaplasia, dysplasia and into gastric cancer.", "output": {"entities": {"gene": [{"text": "TRF", "start": 9, "end": 12}], "disease": [{"text": "intestinal metaplasia", "start": 90, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "GRAIL-overexpressing T cells were intravenously injected in mice with DSS-induced colitis.", "output": {"entities": {"gene": [{"text": "GRAIL", "start": 0, "end": 5}], "disease": [{"text": "colitis", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Moreover, Plac8 deficiency significantly inhibited tumor formation in genetically engineered mouse models of pancreatic cancer.", "output": {"entities": {"gene": [{"text": "Plac8", "start": 10, "end": 15}], "disease": [{"text": "pancreatic cancer", "start": 109, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The results of the micronucleus test indicated that the mean micronuclei rate (MNR) and mean micronucleated cells rate (MCR) in the cancer patients prior to radiotherapy were 12. 46 and 11. 29 per thousand, respectively, which were significantly higher than those (6. 65 and 5. 96 per thousand) in controls (P < 0. 01).", "output": {"entities": {"gene": [{"text": "MNR", "start": 79, "end": 82}], "disease": [{"text": "cancer", "start": 132, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "For the first time, we demonstrate that 4-AAQB significantly suppress Atg-5 and Atg-7 expression with decreased autophagic flux in ovarian cancer cells via inhibition of the PI3K/Akt/mTOR/p70S6K signaling pathway.", "output": {"entities": {"gene": [{"text": "Atg-5", "start": 70, "end": 75}], "disease": [{"text": "ovarian cancer", "start": 131, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Atg-5", "start": 70, "end": 75}, "tail": {"text": "ovarian cancer", "start": 131, "end": 145}}]}}, "schema": []}
{"input": "There was weak evidence to implicate the following: IL13, IFNGR2, EDN1, and VDR in asthma; IL18, TBXA2R, IFNGR2, and VDR in atopy; TLR9, TBXA2R, VDR, NOD2, and STAT6 in airway hyperresponsiveness; TLR10, IFNGR2, STAT6, VDR, and NPSR1 in atopic asthma.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 150, "end": 154}], "disease": [{"text": "atopy", "start": 124, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "However, AdipoR1 and AdipoR2 proteins were lower in monocytes of T2D compared to normal-weight donors.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 21, "end": 28}], "disease": [{"text": "weight", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Comparisons of MRG expression in cells growing in vitro with those seen in tumors generated by the same lines in vivo showed that the levels of activity of these genes are influenced by the surrounding environment.", "output": {"entities": {"gene": [{"text": "MRG", "start": 15, "end": 18}], "disease": [{"text": "tumors", "start": 75, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the difference of expression of IDO and dysfunctional activation of IDO in villi may play an important role in unexplained recurrent miscarriage.", "output": {"entities": {"gene": [{"text": "IDO", "start": 57, "end": 60}], "disease": [{"text": "recurrent miscarriage", "start": 148, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "In addition, DSG1 deficiency was associated with increased expression of a number of genes encoding allergy-related cytokines.", "output": {"entities": {"gene": [{"text": "DSG1", "start": 13, "end": 17}], "disease": [{"text": "allergy", "start": 100, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DSG1", "start": 13, "end": 17}, "tail": {"text": "allergy", "start": 100, "end": 107}}]}}, "schema": []}
{"input": "We attempted to address these questions by evaluating amplification of Her-2/neu in benign, premalignant, and malignant lesions using fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 170, "end": 174}], "disease": [{"text": "premalignant", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We investigated the effects of calmodulin (CaM) antagonists, trifluoperazine (TFP) and tamoxifen (TMX), on TRA-8-induced apoptosis and tumorigenesis of TRA-8-resistant pancreatic cancer cells, and underlying mechanisms.", "output": {"entities": {"gene": [{"text": "TFP", "start": 78, "end": 81}], "disease": [{"text": "tumorigenesis", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59.", "output": {"entities": {"gene": [{"text": "CD59", "start": 0, "end": 4}], "disease": [{"text": "CD59 deficiency", "start": 0, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD59", "start": 0, "end": 4}, "tail": {"text": "CD59 deficiency", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "Recently, fibrillin-1 (FBN1) was reported to play an important role in maintaining the physiological arterial stiffness of essential hypertension (EH).", "output": {"entities": {"gene": [{"text": "FBN1", "start": 23, "end": 27}], "disease": [{"text": "arterial stiffness", "start": 101, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "At day 10, Smad6 increased dramatically, Smad2, Smad3, and Smad4 remained elevated while Smad1 and Smad5 decreased in the fracture callus.", "output": {"entities": {"gene": [{"text": "Smad5", "start": 99, "end": 104}], "disease": [{"text": "callus", "start": 131, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The gene Disrupted-In-Schizophrenia-1 (DISC1) has been indicated as a determinant of psychopathology, including affective disorders, and shown to influence prefrontal cortex (PFC) and hippocampus functioning, regions of major interest for affective disorders.", "output": {"entities": {"gene": [{"text": "PFC", "start": 175, "end": 178}], "disease": [{"text": "affective disorders", "start": 112, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Inducing cell proliferation inhibition and apoptosis via silencing Dicer, Drosha, and Exportin 5 in urothelial carcinoma of the bladder.", "output": {"entities": {"gene": [{"text": "Exportin 5", "start": 86, "end": 96}], "disease": [{"text": "carcinoma of the bladder", "start": 111, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Inhibitory effect of prolactin on the development of fatty liver induced by ACTH in thrat.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 76, "end": 80}], "disease": [{"text": "fatty liver", "start": 53, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 76, "end": 80}, "tail": {"text": "fatty liver", "start": 53, "end": 64}}]}}, "schema": []}
{"input": "In order to clarify the role of periostin in neovascularization, we examined the effect of periostin in angiogenic potentials of human endothelial colony forming cells (ECFCs) in vitro and in an ischemic limb animal model.", "output": {"entities": {"gene": [{"text": "periostin", "start": 32, "end": 41}], "disease": [{"text": "neovascularization", "start": 45, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4.", "output": {"entities": {"gene": [{"text": "FIG4", "start": 150, "end": 154}], "disease": [{"text": "Charcot-Marie-Tooth disease type 4J", "start": 0, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FIG4", "start": 150, "end": 154}, "tail": {"text": "Charcot-Marie-Tooth disease type 4J", "start": 0, "end": 35}}]}}, "schema": []}
{"input": "Steady-state levels of VEGF mRNA were inducible in CD3 + T cells by hypoxia, a known inducer of VEGF mRNA accumulation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 23, "end": 27}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Our findings provided evidence that the SNP rs2071504 in the exon of POLR2A gene would not only confer a decreased risk of gastric cancer, but also influence lymph node metastasis and TMN stage of gastric cancer in the Chinese population.", "output": {"entities": {"gene": [{"text": "POLR2A gene", "start": 69, "end": 80}], "disease": [{"text": "lymph node metastasis", "start": 158, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Macrophages infiltrating granulation and adjacent disc tissues express ADAMTS-4, suggesting its involvement in herniated disc regression.", "output": {"entities": {"gene": [{"text": "ADAMTS-4", "start": 71, "end": 79}], "disease": [{"text": "regression", "start": 126, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, antagonists of 5-HT (2B) receptors might represent novel therapeutics for sympathetic overstimulation-dependent heart failure.", "output": {"entities": {"gene": [{"text": "5-HT (2B", "start": 28, "end": 36}], "disease": [{"text": "heart failure", "start": 125, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (2B", "start": 28, "end": 36}, "tail": {"text": "heart failure", "start": 125, "end": 138}}]}}, "schema": []}
{"input": "In hypoleptinemic diabetic rats with 4. 5-fold higher blood glucose and 15% lower body weight than controls, GALP mRNA levels in the ARC were decreased by 90%, while NPY mRNA levels were increased 9-fold (n = 5, p < 0. 001).", "output": {"entities": {"gene": [{"text": "NPY", "start": 166, "end": 169}], "disease": [{"text": "body weight", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "On multivariate analysis, neuropathy following d4T exposure was associated with increasing age, increasing height, and TNFA-1031 * 2 (model p = 0. 0009).", "output": {"entities": {"gene": [{"text": "TNFA", "start": 119, "end": 123}], "disease": [{"text": "height", "start": 107, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "CTC genomic signatures clustered into two groups independent of subtype: a dormancy-related signature with 16 MCRs (AKT2, PTEN, CADM2); and a tumor-aggressiveness related signature with 358 MCRs (ANGPTL4, BSG, MIR-373).", "output": {"entities": {"gene": [{"text": "PTEN", "start": 122, "end": 126}], "disease": [{"text": "aggressiveness", "start": 148, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we observe that hypoxia and reoxygenation, a component of ischemia, effectively induces apoptosis in the cardiac myocytes from neonatal rats and it concomitantly leads to induction of GADD153, an apoptosis-related gene.", "output": {"entities": {"gene": [{"text": "GADD153", "start": 206, "end": 213}], "disease": [{"text": "ischemia", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "SLC4A1", "start": 262, "end": 268}], "disease": [{"text": "diabetes", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In vitro studies using the Reed-Sternberg cell lines L428 and KM-H2 were also performed in both normoxia and hypoxia and VEGF protein production was assessed by flow cytometry (FACS), immunoassay of cell culture supernatant, and RT-PCR.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 121, "end": 125}], "disease": [{"text": "hypoxia", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "IgG antibodies against KU-MEL-1 were detected in the sera from 9 of 26 melanoma patients and from some patients with other cancers, including brain tumor, esophageal cancer, colon cancer, and chronic myelogenous leukemia, but were not detected in sera from 30 healthy individuals.", "output": {"entities": {"gene": [{"text": "KU-MEL-1", "start": 23, "end": 31}], "disease": [{"text": "esophageal cancer", "start": 155, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In addition to β-catenin, immunoreactivity for phosphorylated SMAD2/3 (indicative of active TGFβ signaling) and COX2 was significantly increased in desmoid tumors compared with healing scar and quiescent fibrous tissue.", "output": {"entities": {"gene": [{"text": "SMAD2", "start": 62, "end": 67}], "disease": [{"text": "desmoid tumors", "start": 148, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Stable transfection of the U87 cell line with either a plasmid for over-expression of human ADAM17, or a siRNA to ADAM17 was employed in this study to establish high-or low-ADAM17 expression in glioma cells, respectively.", "output": {"entities": {"gene": [{"text": "U87", "start": 27, "end": 30}], "disease": [{"text": "glioma", "start": 194, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Hypoxic-ischemic injury, which mimics stroke, has been shown to result in changes in connexins (Cxs), however, changes in Cxs have not been studied in the P10 hypoxia model.", "output": {"entities": {"gene": [{"text": "P10", "start": 155, "end": 158}], "disease": [{"text": "hypoxia", "start": 159, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "In this study, we elucidate some of the molecular mechanisms behind sporadic pheochromocytoma by performing a comprehensive analysis of copy number alterations, gene expression, promoter methylation and somatic mutations in the genes RET, VHL, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, KIF1Bβ, TMEM127 and MAX, which have been associated with hereditary pheochromocytoma or paraganglioma.", "output": {"entities": {"gene": [{"text": "MAX", "start": 301, "end": 304}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 0, "end": 5}], "disease": [{"text": "BFNIS", "start": 36, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN2A", "start": 0, "end": 5}, "tail": {"text": "BFNIS", "start": 36, "end": 41}}]}}, "schema": []}
{"input": "Our study therefore identifies POPDC1 as a disease gene causing a very rare autosomal recessive cardiac arrhythmia and LGMD, expanding the genetic causes of this heterogeneous group of inherited rare diseases.", "output": {"entities": {"gene": [{"text": "POPDC1", "start": 31, "end": 37}], "disease": [{"text": "LGMD", "start": 119, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POPDC1", "start": 31, "end": 37}, "tail": {"text": "LGMD", "start": 119, "end": 123}}]}}, "schema": []}
{"input": "De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.", "output": {"entities": {"gene": [{"text": "WDR37", "start": 20, "end": 25}], "disease": [{"text": "Colobomas", "start": 56, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WDR37", "start": 20, "end": 25}, "tail": {"text": "Colobomas", "start": 56, "end": 65}}]}}, "schema": []}
{"input": "Hb Johnstown [beta109 (G11) Val--> Leu], a high oxygen affinity hemoglobin (Hb) variant associated with beta0-thalassemia (thal) [IVS-I-1 (G--> A)], was identified in an 8-year-old girl referred to our laboratory because of erythrocytosis and a left-shifted oxygen dissociation curve (ODC).", "output": {"entities": {"gene": [{"text": "G11", "start": 23, "end": 26}], "disease": [{"text": "thalassemia", "start": 110, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The mRNA levels of AdipoR1 and AdipoR2 were evaluated by quantitative reverse transcription polymerase chain reaction (RT-PCR) and immunohistochemical staining in 67 gastric cancer tissues and their normal counterparts.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 31, "end": 38}], "disease": [{"text": "gastric cancer", "start": 166, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "The aneuploid changes detected at early stages of MYH-driven tumorigenesis may underlie accelerated tumor progression, increased cancer risk, and poor prognosis in MAP.", "output": {"entities": {"gene": [{"text": "MYH", "start": 50, "end": 53}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The frequency of hypotension associated with streptokinase was significantly higher than that with alteplase.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 99, "end": 108}], "disease": [{"text": "hypotension", "start": 17, "end": 28}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alteplase", "start": 99, "end": 108}, "tail": {"text": "hypotension", "start": 17, "end": 28}}]}}, "schema": []}
{"input": "Despite its implied tumour suppressor (TSG) functions, its exact role in carcinogenesis remains unclear as CYGB upregulation is also associated with tumour hypoxia and aggressiveness.", "output": {"entities": {"gene": [{"text": "CYGB", "start": 107, "end": 111}], "disease": [{"text": "aggressiveness", "start": 168, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Mutation altering the miR-184 seed region causes familial keratoconus with cataract.", "output": {"entities": {"gene": [{"text": "miR-184", "start": 22, "end": 29}], "disease": [{"text": "familial keratoconus with cataract", "start": 49, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "miR-184", "start": 22, "end": 29}, "tail": {"text": "familial keratoconus with cataract", "start": 49, "end": 83}}]}}, "schema": []}
{"input": "The present study was aimed at investigating 1) the putative translocation of IGF-IR and the related insulin receptor (IR) to the nucleus in breast cancer cells, 2) the impact of IGF-IR and IR levels on IGF-IR biosynthesis in estrogen receptor (ER)-positive and ER-depleted breast cancer cells, and 3) the potential transcription factor role of IGF-IR in the specific context of IGF-IR gene regulation.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 101, "end": 117}], "disease": [{"text": "translocation", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We investigated these families for any indication of predisposition to colorectal cancer or other HNPCC spectrum cancers by means of detailed questionnaires, interviews, and examination of EXO1-null skin leiomyomata for microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "EXO1", "start": 189, "end": 193}], "disease": [{"text": "microsatellite instability", "start": 220, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Low gene expression of bone morphogenetic protein 7 in brainstem astrocytes in major depression.", "output": {"entities": {"gene": [{"text": "bone morphogenetic protein 7", "start": 23, "end": 51}], "disease": [{"text": "major depression", "start": 79, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bone morphogenetic protein 7", "start": 23, "end": 51}, "tail": {"text": "major depression", "start": 79, "end": 95}}]}}, "schema": []}
{"input": "We demonstrated that Ad-IL-24 induced significant growth inhibition and apoptosis, upregulated the expression of P21, P27, and Bax, downregulated Bcl-2 expression, and activated caspase-3 in Hep-2 laryngeal tumor cells, while it exerted no direct effect on the in vitro proliferation of WI-38 normal diploid cells.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 146, "end": 151}], "disease": [{"text": "laryngeal tumor", "start": 197, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of patients for Lynch syndrome includes assessment of age and family cancer history as well as testing for microsatellite instability and alterations in mismatch repair (MMR) genes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 181, "end": 184}], "disease": [{"text": "microsatellite instability", "start": 118, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Developmental, malignancy-related, and cross-species analysis of eosinophil, mast cell, and basophil siglec-8 expression.", "output": {"entities": {"gene": [{"text": "siglec-8", "start": 101, "end": 109}], "disease": [{"text": "malignancy", "start": 15, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the association of genetic polymorphisms in vascular endothelial growth factor (VEGF), transforming growth factor beta (TGF-β), and interferon γ (IFN-γ) genes, which may be responsible for the hypoxia-induced VEGF-mediated neovascularization pathway for the pathogenesis of PDR.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 158, "end": 163}], "disease": [{"text": "hypoxia", "start": 231, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "A study was undertaken to analyse systematically the clinical presentation, pulmonary function, diagnostic imaging, pathological features and outcomes of children with ABCA3 mutations.", "output": {"entities": {"gene": [{"text": "ABCA3", "start": 168, "end": 173}], "disease": [{"text": "pulmonary function", "start": 76, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The finding recapitulates the previously reported phenotype of nitric oxide synthase 1-deficient mice, which have achalasia.", "output": {"entities": {"gene": [{"text": "nitric oxide synthase 1", "start": 63, "end": 86}], "disease": [{"text": "achalasia", "start": 114, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "nitric oxide synthase 1", "start": 63, "end": 86}, "tail": {"text": "achalasia", "start": 114, "end": 123}}]}}, "schema": []}
{"input": "We examined the relationship between D40 expression and clinico-pathological characteristics of tumours in primary lung cancer.", "output": {"entities": {"gene": [{"text": "D40", "start": 37, "end": 40}], "disease": [{"text": "lung cancer", "start": 115, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Subarachnoid hemorrhage (SAH) causes secondary brain injury due to vasospasm and inflammation.", "output": {"entities": {"gene": [{"text": "SAH", "start": 25, "end": 28}], "disease": [{"text": "inflammation", "start": 81, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "While immunostaining intensity for HIF-1alpha and VEGF was significantly enhanced in 75% of PCa specimens when compared to matched benign specimens (p < 0. 0001), the CT genotype did not modulate the kinetics of HIF-1alpha protein expression in hypoxia in vitro, and was not associated with enhanced expression of hypoxic biomarkers.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 50, "end": 54}], "disease": [{"text": "hypoxic", "start": 314, "end": 321}]}, "relations": {}}, "schema": []}
{"input": "Besides monosomy 7 and large 7p abnormalities encompassing IKZF1, most IKZF1 alterations are short, intragenic deletions.", "output": {"entities": {"gene": [{"text": "IKZF1", "start": 59, "end": 64}], "disease": [{"text": "abnormalities", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "These observations suggest a role for Wnt-4 in the pathogenesis of renal fibrosis.", "output": {"entities": {"gene": [{"text": "Wnt-4", "start": 38, "end": 43}], "disease": [{"text": "renal fibrosis", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Here, we have studied the roles of the tumor suppressor gene p53 and the proto-oncogene c-Src in regulating the transcription of VPF/VEGF in breast cancer cell lines MCF-7 and MDA-MB 435 under both normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 133, "end": 137}], "disease": [{"text": "hypoxic", "start": 211, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "We conclude that block of SUR1 by glibenclamide may ameliorate several pathologic effects associated with inflammation that lead to cortical dysfunction after SAH.", "output": {"entities": {"gene": [{"text": "SAH", "start": 159, "end": 162}], "disease": [{"text": "inflammation", "start": 106, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In fact, blocking cyclooxygenase-2 with NS398 in hypoxic-1833 cells, not only HIF-1α decreased but also molecular-mechanism (s) upstream of the Hippo pathway were triggered: LATS-dependent TAZ phosphorylation seemed responsible for TAZ nucleus/cytoplasm translocation and degradation.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 78, "end": 84}], "disease": [{"text": "translocation", "start": 254, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Cole Disease Results from Mutations in ENPP1.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 39, "end": 44}], "disease": [{"text": "Cole Disease", "start": 0, "end": 12}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ENPP1", "start": 39, "end": 44}, "tail": {"text": "Cole Disease", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "To derive a precise estimation of the associations between the cytochrome P450 1B1 (CYP1B1) 4326C/G variants and prostate cancer (PCa) risk or aggressiveness, a meta-analysis was performed using all eligible published studies.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 84, "end": 90}], "disease": [{"text": "aggressiveness", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Genetic risk factors for sporadic neuroendocrine tumors (NET) are poorly understood.", "output": {"entities": {"gene": [{"text": "NET", "start": 57, "end": 60}], "disease": [{"text": "sporadic", "start": 25, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "It increased the plaque collagen and elastin contents, and reduced plasma angiotensin II levels and plaque macrophage infiltration and cathepsin S (CatS) protein.", "output": {"entities": {"gene": [{"text": "cathepsin S", "start": 135, "end": 146}], "disease": [{"text": "plaque", "start": 17, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "In this study, Bcl-2/adenovirus E1B 19-kDa-interacting protein 3 (BNIP3) is identified as a downstream transducer of the Ras/Raf/ERK signaling pathway to induce autophagy.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 66, "end": 71}], "disease": [{"text": "adenovirus", "start": 21, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The current study evaluated whether three previously reported AS-associated single-nucleotide polymorphisms (SNPs), rs6908425 T & gt; C in CDKAL1, rs11584383 T & gt; C near KIF21B, and rs11175593 C & gt; T near LRRK2/MUC19, have any genetic overlap across multiple autoimmune diseases including SAPHO syndrome, RA, AS, and SPA.", "output": {"entities": {"gene": [{"text": "CDKAL1", "start": 139, "end": 145}], "disease": [{"text": "SAPHO syndrome", "start": 295, "end": 309}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDKAL1", "start": 139, "end": 145}, "tail": {"text": "SAPHO syndrome", "start": 295, "end": 309}}]}}, "schema": []}
{"input": "In transient transfection assays, introduction of dominant-negative constructs for both MKK7 and SEK1 abolished hypoxia-induced AP-1 activation.", "output": {"entities": {"gene": [{"text": "MKK7", "start": 88, "end": 92}], "disease": [{"text": "hypoxia", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Circulating miR-21 levels are significantly increased in patients with severe IF/TA grade (IF/TA grade 3: 3. 0 & #177; 1. 0 vs lower grade of fibrosis: 1. 5 & #177; 1. 2; p & #8202; = & #8202; 0. 001).", "output": {"entities": {"gene": [{"text": "miR-21", "start": 12, "end": 18}], "disease": [{"text": "fibrosis", "start": 142, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-21", "start": 12, "end": 18}, "tail": {"text": "fibrosis", "start": 142, "end": 150}}]}}, "schema": []}
{"input": "Treatment of these patients with granulocyte colony-stimulating factor results in normalization of neutrophil chemotaxis against C5a and significant clearing of infections.", "output": {"entities": {"gene": [{"text": "C5a", "start": 129, "end": 132}], "disease": [{"text": "infections", "start": 161, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Thus, LKB1-mutant lung cancers have deficits in nucleotide metabolism that confer hypersensitivity to DTYMK inhibition, suggesting that DTYMK is a potential therapeutic target in this aggressive subset of tumors.", "output": {"entities": {"gene": [{"text": "DTYMK", "start": 102, "end": 107}], "disease": [{"text": "hypersensitivity", "start": 82, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The peritoneal damages, such as neoangiogenesis and submesothelial fibrosis, were significantly reduced in icodextrin-based PDF compared to high-glucose-based PDF.", "output": {"entities": {"gene": [{"text": "PDF", "start": 124, "end": 127}], "disease": [{"text": "fibrosis", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 18, "end": 24}], "disease": [{"text": "platyspondylic skeletal dysplasia, Torrance type", "start": 38, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 18, "end": 24}, "tail": {"text": "platyspondylic skeletal dysplasia, Torrance type", "start": 38, "end": 86}}]}}, "schema": []}
{"input": "Because p53, a tumor suppressor gene, has an important pathophysiologic role in the regulation of lung epithelial cell DNA damage responses, we hypothesized that p53 may be involved in the oxidative stress-mediated apoptosis induced by marijuana smoking.", "output": {"entities": {"gene": [{"text": "p53", "start": 8, "end": 11}], "disease": [{"text": "marijuana", "start": 236, "end": 245}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p53", "start": 8, "end": 11}, "tail": {"text": "marijuana", "start": 236, "end": 245}}]}}, "schema": []}
{"input": "Here, CYP1A1 polymorphisms were investigated in 134 infertile Caucasian men.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 6, "end": 12}], "disease": [{"text": "infertile", "start": 52, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Primary analyses included age, smoking, alcohol, parity, weighted GRS using 31 non-HLA alleles and 8 HLA-DRB1 alleles, and the HLA × smoking interaction.", "output": {"entities": {"gene": [{"text": "GRS", "start": 66, "end": 69}], "disease": [{"text": "smoking", "start": 31, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "This study was aimed at investigating the changes in neurochemical mechanisms such as lipid peroxidation levels, nitrite content, glutathione reduced (GSH) concentration, superoxide dismutase and catalase activities in the frontal cortex and the striatum of Wistar adult rats after seizures and SE induced by pilocarpine.", "output": {"entities": {"gene": [{"text": "catalase", "start": 196, "end": 204}], "disease": [{"text": "seizures", "start": 282, "end": 290}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 196, "end": 204}, "tail": {"text": "seizures", "start": 282, "end": 290}}]}}, "schema": []}
{"input": "That the incidence of follicular lymphoma and the previously reported frequency of BCL2 translocation are lower in Asians than in Caucasians implies a different molecular pathology.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 83, "end": 87}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We studied a series of 68 subjects diagnosed with childhood acute myeloid leukemia (AML) using conventional cytogenetics and fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR) to analyze mutations in FLT3 and NPM1 genes, and/or array comparative genomic hybridization (CGH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 161, "end": 165}], "disease": [{"text": "childhood acute myeloid leukemia", "start": 50, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Tumor cell-specific overexpression of EphB2 was detected in human cSCCs and in chemically induced mouse cSCCs with immunohistochemistry, whereas the expression of EphB2 was low in premalignant lesions and normal skin.", "output": {"entities": {"gene": [{"text": "EphB2", "start": 38, "end": 43}], "disease": [{"text": "premalignant", "start": 180, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, postmortem genetic testing of CAV3 was performed on genomic DNA isolated from frozen necropsy tissue on a population-based cohort of unrelated cases of SIDS (N = 134, 57 females, average age = 2. 7 months).", "output": {"entities": {"gene": [{"text": "CAV3", "start": 134, "end": 138}], "disease": [{"text": "SIDS", "start": 256, "end": 260}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CAV3", "start": 134, "end": 138}, "tail": {"text": "SIDS", "start": 256, "end": 260}}]}}, "schema": []}
{"input": "In animal studies that employ a transgenic adenocarcinoma of the mouse prostate (TRAMP), which is a model that mimics progressive forms of human prostatic disease, we observed that oral infusion of a polyphenolic fraction isolated from green tea (GTP) at a human achievable dose (equivalent to 6 cups of green tea/d) significantly inhibits PCa development and metastasis.", "output": {"entities": {"gene": [{"text": "TRAMP", "start": 81, "end": 86}], "disease": [{"text": "prostatic disease", "start": 145, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "As was the case in schizophrenia, no changes in NR3A expression were observed in the inferior temporal cortex in bipolar disorder.", "output": {"entities": {"gene": [{"text": "NR3A", "start": 48, "end": 52}], "disease": [{"text": "bipolar disorder", "start": 113, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR3A", "start": 48, "end": 52}, "tail": {"text": "bipolar disorder", "start": 113, "end": 129}}]}}, "schema": []}
{"input": "Although human and experimental acquired myasthenia gravis (MG) are prototypic antibody (Ab)-mediated autoimmune diseases, synthesis of the pathogenic anti-acetylcholine receptor (AChR) Abs, which are high affinity IgG, requires intervention of CD4 (+) T helper cells and their cytokines.", "output": {"entities": {"gene": [{"text": "CD4", "start": 245, "end": 248}], "disease": [{"text": "myasthenia gravis", "start": 41, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "In MDD, the expression of HDAC2 and-5 mRNA was increased in a depressive state, but not in a remissive state, compared to controls.", "output": {"entities": {"gene": [{"text": "HDAC2", "start": 26, "end": 31}], "disease": [{"text": "depressive state", "start": 62, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC2", "start": 26, "end": 31}, "tail": {"text": "depressive state", "start": 62, "end": 78}}]}}, "schema": []}
{"input": "Our study not only provides new clues to understand the role of mRNP biogenesis in preventing genome rearrangements and the mechanism of AID-mediated genome instability, but also shows that, once uracil residues are produced by AID-mediated deamination, these are processed into DSBs and chromosomal rearrangements by the general and conserved DNA repair functions present from yeast to human cells.", "output": {"entities": {"gene": [{"text": "AID", "start": 137, "end": 140}], "disease": [{"text": "genome instability", "start": 150, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "VWF and FVIII levels returned to baseline by day 14. rhIL-11 was well tolerated with less than grade-1 hypertension, hypokalaemia and fluid retention.", "output": {"entities": {"gene": [{"text": "VWF", "start": 0, "end": 3}], "disease": [{"text": "hypokalaemia", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Twenty-eight candidate genes were identified, including IGFBP-3, ADM, ANGPTL4, PLOD2, DSIPI, NDRG1, ENO2, HIG2 and BNIP3L, which are known to be hypoxia-inducible genes.", "output": {"entities": {"gene": [{"text": "ADM", "start": 65, "end": 68}], "disease": [{"text": "hypoxia", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We previously found that a long non-coding RNA, the plasmacytoma variant translocation 1 (PVT1), increases plasminogen activator inhibitor 1 (PAI-1) and transforming growth factor beta 1 (TGF-β1) in mesangial cells, the two main contributors to ECM accumulation in the glomeruli under hyperglycemic conditions, as well as fibronectin 1 (FN1), a major ECM component.", "output": {"entities": {"gene": [{"text": "plasminogen activator inhibitor 1", "start": 107, "end": 140}], "disease": [{"text": "plasmacytoma", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We identified a total of 9 angiogenic genes, including angiopoietin-like (ANGPTL) 4, ephrin (EFNA) 3, transforming growth factor (TGF) β1 and vascular endothelial growth factor (VEGF), to be upregulated in a HIF dependent manner in Caco-2 CRC cells in response to both hypoxia and the hypoxia mimetic dimethyloxallylglycine (DMOG).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 178, "end": 182}], "disease": [{"text": "hypoxia", "start": 269, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "The endocannabinoid system can exert beneficial effects on gastrointestinal inflammation, and cannabinoid receptor-2 (CB2) agonists may represent a new therapeutic approach in inflammatory bowel disease (IBD).", "output": {"entities": {"gene": [{"text": "CB2", "start": 118, "end": 121}], "disease": [{"text": "gastrointestinal inflammation", "start": 59, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Somatic NOD2 mosaicism in Blau syndrome.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 8, "end": 12}], "disease": [{"text": "Blau syndrome", "start": 26, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOD2", "start": 8, "end": 12}, "tail": {"text": "Blau syndrome", "start": 26, "end": 39}}]}}, "schema": []}
{"input": "Inherited variation in the complement factor H gene is a major risk factor for drusen in dry AMD.", "output": {"entities": {"gene": [{"text": "complement factor H gene", "start": 27, "end": 51}], "disease": [{"text": "dry", "start": 89, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In a laser-induced choroidal neovascularization (CNV) model of macular degeneration, Rap1b (-/-) mice exhibited larger CNV volumes compared to wild-type or Rap1a (-/-).", "output": {"entities": {"gene": [{"text": "Rap1a", "start": 156, "end": 161}], "disease": [{"text": "choroidal neovascularization", "start": 19, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In this study we analysed SUFU (human Suppressor of Fused), which acts as a negative regulator of both the Shh and Wnt signalling pathways and therefore represents a putative tumour suppressor gene, to find out if it is also involved in the pathogenesis of sporadic MBs.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 26, "end": 30}], "disease": [{"text": "sporadic", "start": 257, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "We analyzed differences in ASAH1, LASS4 and LASS6 on mRNA level between breast cancer subgroups using microarray data from 1581 tumor samples.", "output": {"entities": {"gene": [{"text": "LASS4", "start": 34, "end": 39}], "disease": [{"text": "tumor", "start": 128, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "To assess for the first time the possible contribution of latent transforming growth factor (TGF)-beta binding protein 2 (LTBP2), an extracellular matrix (ECM) protein that associates with fibrillin-1-containing microfibrils, to the etiology of primary open angle glaucoma (POAG) and pseudoexfoliation (PEX) syndrome.", "output": {"entities": {"gene": [{"text": "LTBP2", "start": 122, "end": 127}], "disease": [{"text": "pseudoexfoliation", "start": 284, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "Risk factors identified in our study may provide a better understanding of the etiological role of MYH9 and influence of environmental factors in nonsyndromic orofacial cleft incidence.", "output": {"entities": {"gene": [{"text": "MYH9", "start": 99, "end": 103}], "disease": [{"text": "orofacial cleft", "start": 159, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Mutations in cardiac MyBP-C are a major cause of hypertrophic cardiomyopathy (HCM), while mutations in skeletal MyBP-C have been implicated in a disease of skeletal muscle-distal arthrogryposis type 1 (DA-1).", "output": {"entities": {"gene": [{"text": "MyBP-C", "start": 21, "end": 27}], "disease": [{"text": "distal arthrogryposis type 1", "start": 172, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 70, "end": 76}], "disease": [{"text": "SK", "start": 28, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIK3CA", "start": 70, "end": 76}, "tail": {"text": "SK", "start": 28, "end": 30}}]}}, "schema": []}
{"input": "Circulating intercellular cell adhesion molecule-1, endothelin-1 and von Willebrand factor-markers of endothelial dysfunction in uncomplicated essential hypertension: the effect of treatment with ACE inhibitors.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 69, "end": 90}], "disease": [{"text": "essential hypertension", "start": 143, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that CRF receptor antagonists may be useful for the treatment of the disease states where CRF is elevated such as anxiety and depression, anorexia nervosa and stroke and that ligand inhibitors of CRF-BP may be used to elevate brain levels of' free' urocortin and other CRF-related peptides.", "output": {"entities": {"gene": [{"text": "urocortin", "start": 269, "end": 278}], "disease": [{"text": "depression", "start": 146, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "urocortin", "start": 269, "end": 278}, "tail": {"text": "depression", "start": 146, "end": 156}}]}}, "schema": []}
{"input": "Here we report a genetic locus associated with a human syndrome of coexistent generalized epilepsy and paroxysmal dyskinesia on chromosome 10q22 and show that a mutation of the alpha subunit of the BK channel causes this syndrome.", "output": {"entities": {"gene": [{"text": "BK channel", "start": 198, "end": 208}], "disease": [{"text": "generalized epilepsy and paroxysmal dyskinesia", "start": 78, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BK channel", "start": 198, "end": 208}, "tail": {"text": "generalized epilepsy and paroxysmal dyskinesia", "start": 78, "end": 124}}]}}, "schema": []}
{"input": "Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.", "output": {"entities": {"gene": [{"text": "COL7A1", "start": 24, "end": 30}], "disease": [{"text": "recessive dystrophic epidermolysis bullosa", "start": 82, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL7A1", "start": 24, "end": 30}, "tail": {"text": "recessive dystrophic epidermolysis bullosa", "start": 82, "end": 124}}]}}, "schema": []}
{"input": "STR-3 is also overexpressed by interdigitating stromal cells in primary epithelial malignancies.", "output": {"entities": {"gene": [{"text": "STR", "start": 0, "end": 3}], "disease": [{"text": "malignancies", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, MUC1 facilitates Hif1-α translocation to the nucleus.", "output": {"entities": {"gene": [{"text": "Hif1-α", "start": 30, "end": 36}], "disease": [{"text": "translocation", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that HDAC6-mediated reversible acetylation might contribute to maintain proper neuronal activity in serotonergic neurons, and also provide a new therapeutic target for depression.", "output": {"entities": {"gene": [{"text": "HDAC6", "start": 28, "end": 33}], "disease": [{"text": "depression", "start": 191, "end": 201}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC6", "start": 28, "end": 33}, "tail": {"text": "depression", "start": 191, "end": 201}}]}}, "schema": []}
{"input": "These results demonstrate a functional role for Klk6-PAR1 signaling in oligodendroglial pathophysiology and suggest that antagonists of PAR1 or its protease agonists may represent new modalities to moderate demyelination and to promote myelin regeneration in cases of CNS white matter injury or disease.", "output": {"entities": {"gene": [{"text": "Klk6", "start": 48, "end": 52}], "disease": [{"text": "demyelination", "start": 207, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "We sequenced NKX2-5 in 303 sporadic CHD patients and 38 families with at least two individuals with CHD.", "output": {"entities": {"gene": [{"text": "NKX2-5", "start": 13, "end": 19}], "disease": [{"text": "sporadic", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We tested for the association of IL17A SNPs with susceptibility to infection and clinical outcome of severe sepsis using two cohorts of European ancestry (derivation cohort, St Paul' s Hospital (SPH), n = 679; validation cohort, Vasopressin and Septic Shock Trial (VASST), n = 517).", "output": {"entities": {"gene": [{"text": "SPH", "start": 195, "end": 198}], "disease": [{"text": "severe sepsis", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S. H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., and Endou, H. (1999) Nat.", "output": {"entities": {"gene": [{"text": "Endou", "start": 271, "end": 276}], "disease": [{"text": "glaucoma", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The paracaspase MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1) is an intracellular signaling protein that plays a key role in innate and adaptive immunity.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 16, "end": 21}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "New discoveries include gene-based association of NSF with triglyceride levels and several genes (ACSM3, ERI2, IL18RAP, IL23RAP and NRG1) with left ventricular hypertrophy phenotypes.", "output": {"entities": {"gene": [{"text": "ERI2", "start": 105, "end": 109}], "disease": [{"text": "left ventricular hypertrophy", "start": 143, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Weak expression of FAK correlated with pelvic lymph node metastasis (P = 0. 026) and recurrent disease (P = 0. 013).", "output": {"entities": {"gene": [{"text": "FAK", "start": 19, "end": 22}], "disease": [{"text": "lymph node metastasis", "start": 46, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Functionally, TCF21 binds the promoter of the melanoma metastasis-suppressing gene, KiSS1, and enhances its gene expression through interaction with E12, a TCF3 isoform and with TCF12.", "output": {"entities": {"gene": [{"text": "E12", "start": 149, "end": 152}], "disease": [{"text": "melanoma", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Here, we examine the potential relationship between RasGRF1 expression and MMP production in RA, reactive arthritis, and inflammatory osteoarthritis synovial tissue and FLS.", "output": {"entities": {"gene": [{"text": "RasGRF1", "start": 52, "end": 59}], "disease": [{"text": "osteoarthritis", "start": 134, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "From the gene SYNPO, rs6579797 (MAF = 0. 032) shows significant associations with ABF (P =. 015) and schizophrenia (P =. 040), as well as jointly (P =. 0027).", "output": {"entities": {"gene": [{"text": "MAF", "start": 32, "end": 35}], "disease": [{"text": "schizophrenia", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.", "output": {"entities": {"gene": [{"text": "Pit-1", "start": 95, "end": 100}], "disease": [{"text": "pituitary hormone deficiency", "start": 32, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We report transiently increased retinal levels of BDNF, NT3, p75 (NTR), FGFR1 and HGFR and decreased levels of FGF9, HGF, TrkB, TrkC, FGFR4 and Thy1 following ischemia.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 50, "end": 54}], "disease": [{"text": "ischemia", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "For this purpose, androgen receptor (AR) and estrogen receptor (ER alpha and ER beta) expression was quantified in 12 clinically localized and 11 hormone-refractory sporadic prostate tumors, using real-time quantitative reverse transcription-PCR assays.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 18, "end": 35}], "disease": [{"text": "sporadic", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy.", "output": {"entities": {"gene": [{"text": "DMPK", "start": 35, "end": 39}], "disease": [{"text": "hypotension", "start": 108, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, Rac1 mediated phosphorylation of p38 mitogen-activated kinase in papilloma cells but not normal cells, and inhibition of p38 with the specific inhibitor SB202190 suppressed COX-2 expression in papilloma cells but had no effect on low-level COX-2 expression in normal cells.", "output": {"entities": {"gene": [{"text": "p38", "start": 47, "end": 50}], "disease": [{"text": "papilloma", "start": 79, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The promoter hypermethylation and expression of sFRP and WIF-1 genes in different stages of colorectal tumor and colorectal cancer cell lines were detected by methylation-specific PCR and reverse transcription PCR, respectively.", "output": {"entities": {"gene": [{"text": "WIF-1", "start": 57, "end": 62}], "disease": [{"text": "colorectal tumor", "start": 92, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WIF-1", "start": 57, "end": 62}, "tail": {"text": "colorectal tumor", "start": 92, "end": 108}}]}}, "schema": []}
{"input": "These findings suggest that fractalkine expression and CX3CR1-positive cell infiltration in diabetic kidneys might play an important role for progression of diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "fractalkine", "start": 28, "end": 39}], "disease": [{"text": "diabetic nephropathy", "start": 157, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Postischemic loss of VE-cadherin, occludin, and zona occludens-1 in SphK2-null mice with prior HPC suggests that SphK2-dependent protection of these adherens and tight junction proteins is compulsory for HPC to establish a vasculoprotective phenotype.", "output": {"entities": {"gene": [{"text": "occludin", "start": 34, "end": 42}], "disease": [{"text": "zona", "start": 48, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Common allelic variations have now been associated with bone density for the estrogen receptor, TGF beta receptor, and TGF beta 1, for the insulin-like growth factor-I pathway, for interleukin-4 and-6 and the interleukin-1 receptor antagonist, for calcitonin and the PTH receptors and for apolipoprotein E. Of considerable interest, chromosomal loci, notably 11q 12-13, have now been linked to bone phenotypes in human and mouse studies.", "output": {"entities": {"gene": [{"text": "PTH", "start": 267, "end": 270}], "disease": [{"text": "bone density", "start": 56, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Intact FHIT mRNA was not detected in two patients with acute myeloid leukemia (AML) and in one patient with chronic lymphocytic leukemia (CLL).", "output": {"entities": {"gene": [{"text": "FHIT", "start": 7, "end": 11}], "disease": [{"text": "chronic lymphocytic leukemia", "start": 108, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Further, tumorigenesis in Dcn (-/-) mice was associated with disruption of intestinal maturation, including decreased cell differentiation and increased proliferation, which were linked to the downregulation of p21 (WAF1/cip1), p27 (kip1), intestinal trefoil factor and E-cadherin and to the upregulation of beta-catenin signaling.", "output": {"entities": {"gene": [{"text": "p27", "start": 228, "end": 231}], "disease": [{"text": "tumorigenesis", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Methylation of GATA-4 and GATA-5 and development of sporadic gastric carcinomas.", "output": {"entities": {"gene": [{"text": "GATA", "start": 15, "end": 19}], "disease": [{"text": "sporadic", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "PTEN is a tumor suppressor commonly inactivated in prostate cancer that has been mechanistically linked to disease aggressiveness.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 0, "end": 4}], "disease": [{"text": "aggressiveness", "start": 115, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In the last 3 years, more than 15 missense and nonsense CARD9 mutations have been reported which associate with the development of a wide spectrum of fungal infections caused by a variety of fungal organisms.", "output": {"entities": {"gene": [{"text": "CARD9", "start": 56, "end": 61}], "disease": [{"text": "fungal infections", "start": 150, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Four pancreatic ductal adenocarcinoma cell lines (PancQGO-1, BxPC-3, MIAPaCa-2, CFPAC-1), 1 islet carcinoma cell line (QGP-1), and 1 adenosquamous carcinoma cell line (KP-3) were analyzed for CDX1 and CDX2 expression using real-time reverse transcription-polymerase chain reaction and Western blot analysis.", "output": {"entities": {"gene": [{"text": "CDX1", "start": 192, "end": 196}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 5, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B.", "output": {"entities": {"gene": [{"text": "FA) complementation group B", "start": 150, "end": 177}], "disease": [{"text": "VACTERL-H", "start": 50, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FA) complementation group B", "start": 150, "end": 177}, "tail": {"text": "VACTERL-H", "start": 50, "end": 59}}]}}, "schema": []}
{"input": "FOXM1 is overexpressed owing to gene amplification in basal-type breast cancer and diffuse large B-cell lymphoma (DLBCL), and it is transcriptionally upregulated owing to Hedgehog-GLI, hypoxia-HIF1α or YAP-TEAD signaling activation.", "output": {"entities": {"gene": [{"text": "YAP", "start": 202, "end": 205}], "disease": [{"text": "hypoxia", "start": 185, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The AML1 (RUNX1)-MTG8 (ETO) fusion transcription factor generated by the t (8; 21) translocation is believed to deregulate the expression of genes that are crucial for normal differentiation and proliferation of hematopoietic progenitors, resulting in acute myelogenous leukemia.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 10, "end": 15}], "disease": [{"text": "translocation", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "This study suggests that the germline mutation in one of the copies accompanied by loss or inactivation of the second copy of the NF1 gene and tumor suppressor gene (s) on 17p and 22q may be associated with the neoplastic transformation; abnormalities of other chromosomes may be related to progression of MPNST.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 130, "end": 138}], "disease": [{"text": "neoplastic transformation", "start": 211, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 72, "end": 79}], "disease": [{"text": "Benign paroxysmal torticollis of infancy", "start": 0, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 72, "end": 79}, "tail": {"text": "Benign paroxysmal torticollis of infancy", "start": 0, "end": 40}}]}}, "schema": []}
{"input": "The dynorphin/KOR system is a crucial neurochemical substrate underlying the pathologies of addictive diseases, affective disorders and other disease states.", "output": {"entities": {"gene": [{"text": "KOR", "start": 14, "end": 17}], "disease": [{"text": "affective disorders", "start": 112, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KOR", "start": 14, "end": 17}, "tail": {"text": "affective disorders", "start": 112, "end": 131}}]}}, "schema": []}
{"input": "Antibodies against RFC protein revealed a parallel change in RFC expression in both brush border and BLM surfaces during chronic alcoholism.", "output": {"entities": {"gene": [{"text": "RFC", "start": 19, "end": 22}], "disease": [{"text": "chronic alcoholism", "start": 121, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RFC", "start": 19, "end": 22}, "tail": {"text": "chronic alcoholism", "start": 121, "end": 139}}]}}, "schema": []}
{"input": "Recently, epithelial-mesenchymal transition (EMT) has attracted attention in studies of tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 45, "end": 48}], "disease": [{"text": "tumor progression", "start": 88, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We found that 10 micromol/L celecoxib reduced P-glycoprotein, Bcl-x (L), and Bcl-2 expression, and induced translocation of Bax from cytosol to mitochondria and cytochrome c release into cytosol in MDR-positive hepatocellular carcinoma cells.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 77, "end": 82}], "disease": [{"text": "translocation", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Expression of VEGF protein was greater at p14, when 30% avascular retina existed in the ROP model, compared with room air, when no avascular retina existed, and at p18, when intravitreous neovascularization existed in the model but not in room air (P <. 001 for both).", "output": {"entities": {"gene": [{"text": "p14", "start": 42, "end": 45}], "disease": [{"text": "neovascularization", "start": 188, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "The ORs of RUNX3 methylation were 16. 6 (95% CI = 6. 5-42. 4) for tumor tissues relative to tumor-adjacent tissues in patients with HCC, 67. 3 (95% CI = 13. 0-348. 5) for tumor tissues from patients with HCC relative to liver tissues from patients with non-neoplastic liver diseases, and 3. 26 (95% CI = 1. 54-6. 90) for tissues from patients with hepatitis C virus (HCV)-related HCC relative to liver tissues from patients with HCC unrelated to HCV.", "output": {"entities": {"gene": [{"text": "HCC", "start": 132, "end": 135}], "disease": [{"text": "liver diseases", "start": 268, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of lipocalin 2 impairs breast tumorigenesis and metastasis.", "output": {"entities": {"gene": [{"text": "lipocalin 2", "start": 14, "end": 25}], "disease": [{"text": "tumorigenesis", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Three patients carrying FOLR1 mutations developed progressive movement disturbance, psychomotor decline, and epilepsy and showed severely reduced folate concentrations in the cerebrospinal fluid (CSF).", "output": {"entities": {"gene": [{"text": "FOLR1", "start": 24, "end": 29}], "disease": [{"text": "epilepsy", "start": 109, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FOLR1", "start": 24, "end": 29}, "tail": {"text": "epilepsy", "start": 109, "end": 117}}]}}, "schema": []}
{"input": "C1D is a major autoantibody target in patients with the polymyositis-scleroderma overlap syndrome.", "output": {"entities": {"gene": [{"text": "C1D", "start": 0, "end": 3}], "disease": [{"text": "overlap syndrome", "start": 81, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Human corneal limbal epithelial cell clones stably expressing SLURP1 under the control of cytomegalovirus (CMV) promoter were generated using lentiviral vectors.", "output": {"entities": {"gene": [{"text": "SLURP1", "start": 62, "end": 68}], "disease": [{"text": "cytomegalovirus", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "VHL protein (pVHL) has a critical role in regulating proteasomal degradation of the HIF transcription factor, and VHL inactivation results in overexpression of many hypoxia-inducible mRNAs including vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 235, "end": 239}], "disease": [{"text": "hypoxia", "start": 165, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to test whether CACNA1E common variability affects beta cell function and/or insulin sensitivity in patients with newly diagnosed type 2 diabetes.", "output": {"entities": {"gene": [{"text": "CACNA1E", "start": 41, "end": 48}], "disease": [{"text": "insulin sensitivity", "start": 102, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "RMR values were compared by using both linear (analysis of covariance) and log-linear (analysis of covariance with log-transformed data) regression to control for differences in FM and FFM.", "output": {"entities": {"gene": [{"text": "FFM", "start": 185, "end": 188}], "disease": [{"text": "regression", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Therefore, TRPM7 may constitute a useful target for the treatment of liver fibrosis.", "output": {"entities": {"gene": [{"text": "TRPM7", "start": 11, "end": 16}], "disease": [{"text": "liver fibrosis", "start": 69, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPM7", "start": 11, "end": 16}, "tail": {"text": "liver fibrosis", "start": 69, "end": 83}}]}}, "schema": []}
{"input": "Better understanding of the pathogenesis of hemangioma by identification of the relevant factors involved in its regression such as clust/apoJ will result in the development of novel therapies for this condition and tumors that do not undergo spontaneous regression.", "output": {"entities": {"gene": [{"text": "apoJ", "start": 138, "end": 142}], "disease": [{"text": "regression", "start": 113, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "In order to characterize the desmoplastic response in thyroid cancers, we evaluated the expression pattern of three molecular markers of activated fibroblasts/myofibroblasts, namely, fibroblast activation protein alpha (FAPalpha), tenascin-C (Tn-C), and alpha-smooth muscle actin (alpha-SMA), as well as the endothelial markers endoglyx-1, CD34 and CD31 in a series of 28 metastatic and non-metastatic medullary thyroid cancers.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 260, "end": 279}], "disease": [{"text": "desmoplastic", "start": 29, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) chromosomal translocation of human follicular B-cell lymphoma juxtaposes the bcl-2 gene with the immunoglobulin heavy chain locus.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 92, "end": 102}], "disease": [{"text": "chromosomal translocation", "start": 15, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "SLC4A1", "start": 262, "end": 268}], "disease": [{"text": "body mass index", "start": 42, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4.", "output": {"entities": {"gene": [{"text": "MBD3", "start": 110, "end": 114}], "disease": [{"text": "autistic", "start": 17, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MBD3", "start": 110, "end": 114}, "tail": {"text": "autistic", "start": 17, "end": 25}}]}}, "schema": []}
{"input": "Fifty-four of the 67 carriers of NOD2 variants had NAID, which has a genotype profile that is somewhat different from Crohn' s disease.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 33, "end": 37}], "disease": [{"text": "NAID", "start": 51, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOD2", "start": 33, "end": 37}, "tail": {"text": "NAID", "start": 51, "end": 55}}]}}, "schema": []}
{"input": "Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).", "output": {"entities": {"gene": [{"text": "CYBB", "start": 86, "end": 90}], "disease": [{"text": "X-linked chronic granulomatous disease", "start": 46, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYBB", "start": 86, "end": 90}, "tail": {"text": "X-linked chronic granulomatous disease", "start": 46, "end": 84}}]}}, "schema": []}
{"input": "MEN2A represents more than 50% of all MEN2 cases, having a regular pattern with medullary thyroid carcinoma (MTC) incidence of 90-100%, bilateral pheochromocytoma (PCC) incidence of 40-50% and primary hyperparathyroidism (HPT) incidence of 10-25%.", "output": {"entities": {"gene": [{"text": "HPT", "start": 222, "end": 225}], "disease": [{"text": "pheochromocytoma", "start": 146, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that overexpression of HSCO suppresses p53-induced apoptosis by preventing nuclear localization of NF-kappa B during signaling and thus contributes to hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "HSCO", "start": 45, "end": 49}], "disease": [{"text": "hepatocarcinogenesis", "start": 173, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of an upstream growth factor signal prevents tumor growth of the U87 PTEN-deficient glioma to the same extent as re-introduction of PTEN.", "output": {"entities": {"gene": [{"text": "U87", "start": 76, "end": 79}], "disease": [{"text": "glioma", "start": 95, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These latter data provide indirect evidence that short-lived transacting factor (s) regulate transcription of the human bcl-2 gene in lymphoid cells with or without a t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 120, "end": 130}], "disease": [{"text": "translocation", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Our studies demonstrated that collagen XVIII and VEGF are expressed and responsive to ES in a limited number of SCC cell lines during normoxia but were most responsive when grown under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxic", "start": 185, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "We studied the expression of IDE protein in postmortem brains of patients with schizophrenia and controls because: (1) the gene encoding IDE is located on chromosome 10q23-q25, a gene locus linked to schizophrenia; (2) insulin resistance with brain insulin receptor deficits/receptor dysfunction was reported in schizophrenia; (3) the enzyme cleaves IGF-I and IGF-II which are implicated in the pathophysiology of the disease; and (4) brain gamma-endorphin levels, liberated from beta-endorphin exclusively by IDE, have been reported to be altered in schizophrenia.", "output": {"entities": {"gene": [{"text": "IGF-II", "start": 360, "end": 366}], "disease": [{"text": "insulin resistance", "start": 219, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Evidence for multiplicative interaction was found between combined NER genotypes and smoking dose (likelihood ratio test P = 0. 06), duration (P = 0. 09), time since cessation (P = 0. 02), age at initiation (P = 0. 04) and former smoking (P = 0. 03).", "output": {"entities": {"gene": [{"text": "NER", "start": 67, "end": 70}], "disease": [{"text": "smoking", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, CHD7 mutations were detected in a large proportion (64%) of cases diagnosed with CHARGE syndrome.", "output": {"entities": {"gene": [{"text": "CHD7", "start": 15, "end": 19}], "disease": [{"text": "CHARGE syndrome", "start": 96, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHD7", "start": 15, "end": 19}, "tail": {"text": "CHARGE syndrome", "start": 96, "end": 111}}]}}, "schema": []}
{"input": "Mean patient discomfort scores were 20% for MRC and 68% for colonoscopy, P = 0. 003.", "output": {"entities": {"gene": [{"text": "MRC", "start": 44, "end": 47}], "disease": [{"text": "discomfort", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The combined effect of smoking and alcohol intake affected risk, at high exposure level, for ERCC6 1230Pro carriers (OR = 0. 47, 95% CI 0. 22-0. 98) and RAD23B 249Val carriers (OR = 2. 6, 95% CI 1. 3-4. 9).", "output": {"entities": {"gene": [{"text": "RAD23B", "start": 153, "end": 159}], "disease": [{"text": "alcohol intake", "start": 35, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The I2020T LRRK2 TG mouse exhibited impaired locomotive ability accompanied by several dopaminergic neuron abnormalities.", "output": {"entities": {"gene": [{"text": "LRRK2", "start": 11, "end": 16}], "disease": [{"text": "abnormalities", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The expression of VEGF under hypoxic conditions requires transcription through activated hypoxia-inducible factor 1 (HIF-1), increased mRNA stability, and facilitated translation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 18, "end": 22}], "disease": [{"text": "hypoxic", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Analysis of surgical biopsy specimens showed the expression of RANKL (31%), RANK (38%), and OPG (19%) in primary carcinoma.", "output": {"entities": {"gene": [{"text": "RANK", "start": 63, "end": 67}], "disease": [{"text": "primary carcinoma", "start": 105, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Zebrafish morpholino studies of spag1 produced cilia-related phenotypes previously reported for PCD-causing mutations in genes encoding cytoplasmic proteins.", "output": {"entities": {"gene": [{"text": "spag1", "start": 32, "end": 37}], "disease": [{"text": "PCD", "start": 96, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "spag1", "start": 32, "end": 37}, "tail": {"text": "PCD", "start": 96, "end": 99}}]}}, "schema": []}
{"input": "Taken together, our findings suggest that AEG-1 contributes to glioma-induced neurodegeneration, a hallmark of this fatal tumor, through regulation of EAAT2 expression.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 42, "end": 47}], "disease": [{"text": "neurodegeneration", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We also examined the potential of IL-27 gene delivery by sonoporation to treat and reduce the growth of prostate cancer in vivo.", "output": {"entities": {"gene": [{"text": "IL-27", "start": 34, "end": 39}], "disease": [{"text": "prostate cancer", "start": 104, "end": 119}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-27", "start": 34, "end": 39}, "tail": {"text": "prostate cancer", "start": 104, "end": 119}}]}}, "schema": []}
{"input": "However, translocation (14; 18) (q32; q21) was not detected in any of the cases with BCL2 amplification.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 85, "end": 89}], "disease": [{"text": "translocation", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich' s ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system.", "output": {"entities": {"gene": [{"text": "MTP1", "start": 99, "end": 103}], "disease": [{"text": "neurodegeneration", "start": 208, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Hypobaric hypoxia induced increase in transvascular leakage of sodium fluorescein dye, lung water content, lavage total protein, albumin, VEGF levels, pro-inflammatory cytokine levels, tissue expression of cell adhesion molecules and NF-κB DNA binding activity were reduced significantly after hypoxic preconditioning with cobalt.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 138, "end": 142}], "disease": [{"text": "hypoxic", "start": 294, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "Autosomal dominant optic atrophy (ADOA, OMIM 165500), an inherited optic neuropathy that leads to retinal ganglion cell degeneration and reduced visual acuity during the early decades of life, is mainly associated with mutations in the OPA1 gene.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 236, "end": 240}], "disease": [{"text": "Autosomal dominant optic atrophy", "start": 0, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 236, "end": 240}, "tail": {"text": "Autosomal dominant optic atrophy", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "However, a proportion of Hsp47-expressing cells in plaque did not express type I procollagen, and this pattern could be reproduced in culture.", "output": {"entities": {"gene": [{"text": "Hsp47", "start": 25, "end": 30}], "disease": [{"text": "plaque", "start": 51, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Mismatch repair (MMR) status was accessed by testing tissue for microsatellite instability (MSI) and for hMLH1 and hMSH2 protein expression.", "output": {"entities": {"gene": [{"text": "MMR", "start": 17, "end": 20}], "disease": [{"text": "microsatellite instability", "start": 64, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4.", "output": {"entities": {"gene": [{"text": "RET", "start": 97, "end": 100}], "disease": [{"text": "Burkitt lymphomas", "start": 56, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RET", "start": 97, "end": 100}, "tail": {"text": "Burkitt lymphomas", "start": 56, "end": 73}}]}}, "schema": []}
{"input": "Our results point out that the overexpression of HMGA1P6 and HMGA1P7 could contribute to increase HMGA1 levels in human pituitary tumors, and then to pituitary tumorigenesis.", "output": {"entities": {"gene": [{"text": "HMGA1P6", "start": 49, "end": 56}], "disease": [{"text": "pituitary tumors", "start": 120, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "After 2 courses of chemotherapy the mean hemoglobin decrease was 1. 2 g/dL in the EPO group versus 2. 8 g/dL in the control group (P = 0. 037).", "output": {"entities": {"gene": [{"text": "EPO", "start": 82, "end": 85}], "disease": [{"text": "hemoglobin", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The three coactivators, TIF-2, SRC-1 and RAC3, are up-regulated in relapsed prostate cancer.", "output": {"entities": {"gene": [{"text": "SRC-1", "start": 31, "end": 36}], "disease": [{"text": "prostate cancer", "start": 76, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRC-1", "start": 31, "end": 36}, "tail": {"text": "prostate cancer", "start": 76, "end": 91}}]}}, "schema": []}
{"input": "These results indicate that delayed capacity for HSV-2 plaque formation is a more sensitive assay than HCR in the detection of cellular DNA-repair deficiency for XP and CS.", "output": {"entities": {"gene": [{"text": "HCR", "start": 103, "end": 106}], "disease": [{"text": "plaque", "start": 55, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Recent studies demonstrate that experimental and human brain tumors express an 80-kDa protein that reacts with a specific sequence around nucleotide 2, 200 within the GLUT1 mRNA 3'-UTR.", "output": {"entities": {"gene": [{"text": "UTR", "start": 181, "end": 184}], "disease": [{"text": "brain tumors", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of a GUCY2D mutation causing CACD and adds to our understanding of genotype-phenotype correlation in this heterogeneous group of choroidoretinal dystrophies.", "output": {"entities": {"gene": [{"text": "GUCY2D", "start": 30, "end": 36}], "disease": [{"text": "CACD", "start": 54, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GUCY2D", "start": 30, "end": 36}, "tail": {"text": "CACD", "start": 54, "end": 58}}]}}, "schema": []}
{"input": "Heterozygous GATA-2 germline mutations are associated with overlapping clinical manifestations termed GATA-2 deficiency, characterized by immunodeficiency and predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).", "output": {"entities": {"gene": [{"text": "GATA", "start": 13, "end": 17}], "disease": [{"text": "immunodeficiency", "start": 138, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Loss of Spartin or elevation of BMP signaling induces age-dependent progressive defects resembling hereditary spastic paraplegias, including motor dysfunction and brain neurodegeneration.", "output": {"entities": {"gene": [{"text": "Spartin", "start": 8, "end": 15}], "disease": [{"text": "neurodegeneration", "start": 169, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Recently, we have demonstrated the mitochondrial involvement in FASN inhibition-induced apoptosis in melanoma cells.", "output": {"entities": {"gene": [{"text": "FASN", "start": 64, "end": 68}], "disease": [{"text": "melanoma", "start": 101, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FASN", "start": 64, "end": 68}, "tail": {"text": "melanoma", "start": 101, "end": 109}}]}}, "schema": []}
{"input": "These findings suggest that ADAR2 overexpression causes enhanced pre-miR-10a and pri-miR-125a A-to-I editing, which alters mature miR-10a and miR-125a expression and may contribute to chordoma pathogenesis.", "output": {"entities": {"gene": [{"text": "ADAR2", "start": 28, "end": 33}], "disease": [{"text": "chordoma", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "To determine whether the variation in phenotypic severity is due to mutations retaining residual function, we extended mutational analysis of OCTN2 to four additional European families with primary carnitine deficiency.", "output": {"entities": {"gene": [{"text": "OCTN2", "start": 142, "end": 147}], "disease": [{"text": "carnitine deficiency", "start": 198, "end": 218}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCTN2", "start": 142, "end": 147}, "tail": {"text": "carnitine deficiency", "start": 198, "end": 218}}]}}, "schema": []}
{"input": "This study was carried out to investigate the effect of PTH levels on the circulating CD4 +, CD8 + T cell counts (%) in patients with chronic renal failure (CRF) on regular hemodialysis ((HD).", "output": {"entities": {"gene": [{"text": "CD4", "start": 86, "end": 89}], "disease": [{"text": "chronic renal failure", "start": 134, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "A range of EFTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date.", "output": {"entities": {"gene": [{"text": "EFTUD2", "start": 11, "end": 17}], "disease": [{"text": "MFDM", "start": 85, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFTUD2", "start": 11, "end": 17}, "tail": {"text": "MFDM", "start": 85, "end": 89}}]}}, "schema": []}
{"input": "Collectively, our results suggest that SREBP-2 plays a critical role in regulating osteoclastogenesis and contributes to breast cancer-induced osteolysis.", "output": {"entities": {"gene": [{"text": "SREBP-2", "start": 39, "end": 46}], "disease": [{"text": "breast cancer", "start": 121, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SREBP-2", "start": 39, "end": 46}, "tail": {"text": "breast cancer", "start": 121, "end": 134}}]}}, "schema": []}
{"input": "These observations suggest that the time frame for the translocation of DJ-1 from the cytoplasm to mitochondria and to the nucleus following oxidative stress is quite different and that dimerized DJ-1 in mitochondria is functional as an antioxidant not related to cysteine modification.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 72, "end": 76}], "disease": [{"text": "translocation", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Taking into account that another metal ions transporter gene, SLC39A3, is associated to bipolar disorder, our findings reveal a role for brain metal homeostasis in psychosis.", "output": {"entities": {"gene": [{"text": "SLC39A3", "start": 62, "end": 69}], "disease": [{"text": "psychosis", "start": 164, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC39A3", "start": 62, "end": 69}, "tail": {"text": "psychosis", "start": 164, "end": 173}}]}}, "schema": []}
{"input": "Mice lacking p16Ink4a were born with the expected mendelian distribution and exhibited normal development except for thymic hyperplasia.", "output": {"entities": {"gene": [{"text": "p16Ink4a", "start": 13, "end": 21}], "disease": [{"text": "thymic hyperplasia", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that lower birth weight and maternal smoking during pregnancy may interact with DRD5 and DAT1 (birth weight only) in influencing associated antisocial behavior symptoms (ODD and conduct disorder).", "output": {"entities": {"gene": [{"text": "DRD5", "start": 100, "end": 104}], "disease": [{"text": "antisocial behavior", "start": 160, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "A hematological screening for alpha-thal should be considered in patients with mild developmental delay and a suggestive phenotype of ATR-16 with microcytic hypochromic anemia and normal iron status.", "output": {"entities": {"gene": [{"text": "ATR", "start": 134, "end": 137}], "disease": [{"text": "microcytic hypochromic anemia", "start": 146, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate for the first time that stressing pancreatic ductal adenocarcinoma (PDA) cells by treatment with DNA-damaging anticancer agents (mitomycin C, oxaliplatin, cisplatin, carboplatin, and a PARP inhibitor) results in HuR' s translocation from the nucleus to the cytoplasm.", "output": {"entities": {"gene": [{"text": "HuR' s", "start": 233, "end": 239}], "disease": [{"text": "translocation", "start": 240, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that region-specific changes in PD and c-fos expression occur after withdrawal, while SERT mRNA expression is suppressed, similar to what has been reported in MDD.", "output": {"entities": {"gene": [{"text": "PD", "start": 52, "end": 54}], "disease": [{"text": "MDD", "start": 179, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PD", "start": 52, "end": 54}, "tail": {"text": "MDD", "start": 179, "end": 182}}]}}, "schema": []}
{"input": "Tubular proteinuria was assessed by measuring urinary retinol-binding protein (RBP), beta2-microglobulin (beta2M), alpha1-microglobulin (alpha1M), and albumin in 138 patients: 26 affected males and 24 female carriers of the X-linked syndrome \" Dent' s disease, \" 6 patients with other Fanconi syndromes, 17 with distal renal tubular acidosis (dRTA), 39 with glomerulonephritis (GN), and 26 with Chinese herbs nephropathy (CHN).", "output": {"entities": {"gene": [{"text": "CHN", "start": 422, "end": 425}], "disease": [{"text": "nephropathy", "start": 409, "end": 420}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to determine whether the presence of an exon 1 (G--> A) polymorphism at the SCARB1 gene modifies the insulin sensitivity to dietary fat.", "output": {"entities": {"gene": [{"text": "SCARB1 gene", "start": 88, "end": 99}], "disease": [{"text": "insulin sensitivity", "start": 113, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that pleomorphic adenoma cells produce VEGF in several functional forms for their own proliferation or differentiation, and that the VEGF expression is controlled by hypoxic circumstances of poorly vascularized pleomorphic adenomas.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 59, "end": 63}], "disease": [{"text": "hypoxic", "start": 186, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We conclude that under hypoxic conditions MCF-7 cells acquire a pro-inflammatory phenotype, and that solid human mammary carcinoma evidenced a similar activation of HIF-1alpha, NF-kappaB, and IR genes in malignant tumor cells as compared to the normal host tissues.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 177, "end": 186}], "disease": [{"text": "human mammary carcinoma", "start": 107, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Human serum CXCL9 levels were measured and correlated with CXCL9 variant and fibrosis severity.", "output": {"entities": {"gene": [{"text": "CXCL9", "start": 12, "end": 17}], "disease": [{"text": "fibrosis", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas JAK2 (V617F) heterozygosity is predominantly encountered in prefibrotic CIMF and essential thrombocythaemia but transition from hetero-to homozygosity with onset of fibrosis is rare.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 79, "end": 83}], "disease": [{"text": "fibrosis", "start": 244, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that the TDP1 mutation in SCAN1 abolishes the 3'-PG processing activity of the enzyme, and that there are no other enzymes in cell extracts capable of processing protruding 3'-PG termini.", "output": {"entities": {"gene": [{"text": "TDP1", "start": 29, "end": 33}], "disease": [{"text": "SCAN1", "start": 46, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TDP1", "start": 29, "end": 33}, "tail": {"text": "SCAN1", "start": 46, "end": 51}}]}}, "schema": []}
{"input": "We examined two models of induced autoimmune arthritis pristane-induced arthritis (PIA) and collagen-induced arthritis (CIA) as well as the anti-collagen-II antibody-induced arthritis (CAIA) model.", "output": {"entities": {"gene": [{"text": "CIA", "start": 120, "end": 123}], "disease": [{"text": "autoimmune arthritis", "start": 34, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Considerable myotube loss and atrophy of 15-day-differentiated DM1 myotubes indicated activated catabolic pathways, as confirmed by the presence of apoptotic (caspase-3 activation, cytochrome c release, chromatin fragmentation) and autophagic (P62/LC3) markers.", "output": {"entities": {"gene": [{"text": "P62", "start": 244, "end": 247}], "disease": [{"text": "atrophy", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Down-regulation of Kir4. 1 in the cerebral cortex of rats with liver failure and in cultured astrocytes treated with glutamine: Implications for astrocytic dysfunction in hepatic encephalopathy.", "output": {"entities": {"gene": [{"text": "Kir4. 1", "start": 19, "end": 26}], "disease": [{"text": "liver failure", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In both cases, IFN-alpha markedly inhibited IL-5 production while it induced mild upregulation of IL-4 and IL-10.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 107, "end": 112}], "disease": [{"text": "mild", "start": 77, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest a crucial role for BMI-1 in osteosarcoma pathogenesis.", "output": {"entities": {"gene": [{"text": "BMI-1", "start": 42, "end": 47}], "disease": [{"text": "osteosarcoma", "start": 51, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BMI-1", "start": 42, "end": 47}, "tail": {"text": "osteosarcoma", "start": 51, "end": 63}}]}}, "schema": []}
{"input": "Diploid NCOA3 signal counts were associated with longer adenoma recurrence-free surveillance (P = 0. 042).", "output": {"entities": {"gene": [{"text": "NCOA3", "start": 8, "end": 13}], "disease": [{"text": "adenoma", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Initial screening by Southern blot analysis showed amplification of S100A6, FLG and SPRR3 in several sarcomas and, in a first attempt to characterize the 1q21-q22 amplicon in more detail, we have now investigated the amplification status of these and 11 other markers in the region in 35 sarcoma samples.", "output": {"entities": {"gene": [{"text": "SPRR3", "start": 84, "end": 89}], "disease": [{"text": "sarcoma", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that Notch2 (+) pancreatic cancer stem-like cells had a close relationship with CAC.", "output": {"entities": {"gene": [{"text": "CAC", "start": 100, "end": 103}], "disease": [{"text": "pancreatic cancer", "start": 36, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Our results suggested that genetic variants on the E-cadherin gene may be involved in endometriosis-related infertility.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 51, "end": 61}], "disease": [{"text": "infertility", "start": 108, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Apolipoprotein C1 and apolipoprotein E are differentially expressed in atheroma of the carotid and femoral artery.", "output": {"entities": {"gene": [{"text": "Apolipoprotein C1", "start": 0, "end": 17}], "disease": [{"text": "atheroma", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Among the cognate genes, six including ALG8, DGKE, GNA12, KLF11, LRPAP1, and MMAB are related to multiple genetic diseases such as depressive disorder and Type-II diabetes.", "output": {"entities": {"gene": [{"text": "ALG8", "start": 39, "end": 43}], "disease": [{"text": "depressive disorder", "start": 131, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALG8", "start": 39, "end": 43}, "tail": {"text": "depressive disorder", "start": 131, "end": 150}}]}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "NRG1", "start": 192, "end": 196}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRG1", "start": 192, "end": 196}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Treatment of wild-type precursors with clustered soluble EphB2-Fc inhibited RANKL induced formation of multinucleated osteoclasts, and bone resorption pits.", "output": {"entities": {"gene": [{"text": "EphB2", "start": 57, "end": 62}], "disease": [{"text": "bone resorption", "start": 135, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Post-myocardial infarction ventricular remodeling is associated with the expression of a variety of factors including S100B that can potentially modulate myocyte apoptosis.", "output": {"entities": {"gene": [{"text": "S100B", "start": 118, "end": 123}], "disease": [{"text": "ventricular remodeling", "start": 27, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Loss of pVHL leads to an inappropriate accumulation of hypoxia-inducible mRNAs, such as the mRNA encoding vascular endothelial growth factor (VEGF), under normoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 142, "end": 146}], "disease": [{"text": "hypoxia", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In addition, we analyzed the signaling mechanism underlying the up-regulation of ICAM-1 and found that the siRNA-mediated depletion of BLT2 markedly suppressed the LPS-induced expression of ICAM-1 in MDA-MB-231 cells and the subsequent adhesion of these cells to THP-1 monocytes.", "output": {"entities": {"gene": [{"text": "BLT2", "start": 135, "end": 139}], "disease": [{"text": "adhesion", "start": 236, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "The EGFR SNPs have a cumulative effect on decreasing lung adenocarcinoma risk in never-smoking women with HRT use.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 4, "end": 8}], "disease": [{"text": "smoking", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The patients of the mutant group (Trp64/Arg64) had higher body mass index, weight, waist circumference, fat mass, waist-to-hip ratio, and C-reactive protein values than those of the wild-type group.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 138, "end": 156}], "disease": [{"text": "waist-to-hip ratio", "start": 114, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The function of AUTS2 is presently unknown, but it has been shown to be disrupted in monozygotic twins with autism and mental retardation, both carrying a translocation t (7; 20) (q11. 2; p11. 2) (de la Barra et al.", "output": {"entities": {"gene": [{"text": "p11", "start": 188, "end": 191}], "disease": [{"text": "autism", "start": 108, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "In [-] HSP72 or ICR, the body temperatures, cell ischemia content, and injury marker in the striatum were significantly higher, and the mean arterial pressure, striatal blood flow, and striatal PO2 concentration were significantly lower during heatstroke than in [+] HSP72.", "output": {"entities": {"gene": [{"text": "HSP72", "start": 7, "end": 12}], "disease": [{"text": "ischemia", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We did not detect 22q11 interstitial deletions associated with the DiGeorge syndrome among the 320 patients of our sample and we found no association between common PRODH polymorphisms and any of the psychotic disorders.", "output": {"entities": {"gene": [{"text": "PRODH", "start": 165, "end": 170}], "disease": [{"text": "psychotic disorders", "start": 200, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of SIRT2 in merlin/NF2-mutant Schwann cells triggers necrosis.", "output": {"entities": {"gene": [{"text": "SIRT2", "start": 14, "end": 19}], "disease": [{"text": "necrosis", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Localization of TRAIL (+) cells within the neovascular tufts of hyperoxia-exposed wild-type mice suggested TRAIL plays a role in oxygen-induced retinopathy.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 16, "end": 21}], "disease": [{"text": "retinopathy", "start": 144, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In searching for novel contributing gene products using Unigene cluster data mining, we found overrepresentation of expressed sequence tags corresponding to a previously uncharacterized gene (ZKSCAN3) in colorectal tumors.", "output": {"entities": {"gene": [{"text": "ZKSCAN3", "start": 192, "end": 199}], "disease": [{"text": "colorectal tumors", "start": 204, "end": 221}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZKSCAN3", "start": 192, "end": 199}, "tail": {"text": "colorectal tumors", "start": 204, "end": 221}}]}}, "schema": []}
{"input": "Rats vaccinated with scDEC-CD40 had significantly less proteinuria and renal injury than did rats receiving scControl-CD40 and were protected from developing Heymann nephritis.", "output": {"entities": {"gene": [{"text": "CD40", "start": 27, "end": 31}], "disease": [{"text": "proteinuria", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The relationship between germ-line mutations of hMSH2 and hMLH1, microsatellite instability (MSI), and loss of DNA mismatch repair (MMR) gene expression were studied to formulate an effective selection protocol for patients with suspected hereditary nonpolyposis colorectal cancer who should be offered genetic testing.", "output": {"entities": {"gene": [{"text": "MMR", "start": 132, "end": 135}], "disease": [{"text": "microsatellite instability", "start": 65, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In addition, Nrf2 KO mice show biomarkers of heart failure, such as elevated levels of & #946;-MHC, ANF, and BNP mRNA in the myocardium.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 13, "end": 17}], "disease": [{"text": "heart failure", "start": 45, "end": 58}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nrf2", "start": 13, "end": 17}, "tail": {"text": "heart failure", "start": 45, "end": 58}}]}}, "schema": []}
{"input": "Autophagy activities were increased dramatically in the ischemic brains 3-7 days postinjury from a rat model of neonatal cerebral hypoxia/ischemia as shown by increased punctate LC3 staining and BECN1 expression.", "output": {"entities": {"gene": [{"text": "LC3", "start": 178, "end": 181}], "disease": [{"text": "cerebral hypoxia", "start": 121, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "There is no evidence to suggest that PI4K2B is contributing to bipolar disorder in this family but a role for this gene in schizophrenia has not been excluded.", "output": {"entities": {"gene": [{"text": "PI4K2B", "start": 37, "end": 43}], "disease": [{"text": "schizophrenia", "start": 123, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PI4K2B", "start": 37, "end": 43}, "tail": {"text": "schizophrenia", "start": 123, "end": 136}}]}}, "schema": []}
{"input": "Polymerase chain reaction (PCR) was used to identify indolent NHL patients with the BCL2/IgH translocation which served as a marker of residual disease.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 84, "end": 88}], "disease": [{"text": "translocation", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Our study provides strong evidence that Gent inhibits reserpine-induced pain/depression dyad by downregulating GluN2B receptors in the amygdala.", "output": {"entities": {"gene": [{"text": "GluN2B", "start": 111, "end": 117}], "disease": [{"text": "depression", "start": 77, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GluN2B", "start": 111, "end": 117}, "tail": {"text": "depression", "start": 77, "end": 87}}]}}, "schema": []}
{"input": "Here, we showed that SOX7 expression was regulated by DNA hypermethylation in AML but not in acute lymphoblastic leukemia or normal bone marrow cells.", "output": {"entities": {"gene": [{"text": "SOX7", "start": 21, "end": 25}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 93, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Both studies revealed the involvement of KRT19 in the invasive phenotype by modulating collective and individual migration and cell/extra-cellular matrix adhesion properties.", "output": {"entities": {"gene": [{"text": "KRT19", "start": 41, "end": 46}], "disease": [{"text": "adhesion", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The mechanism of γ-H2AX on the angiogenic activity of HCC might go through EGFR/HIF-1α/VEGF pathways under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 87, "end": 91}], "disease": [{"text": "hypoxic", "start": 107, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The main features of AFAP are 100 or less colorectal adenomas with a tendency to rectal sparing, a delay in onset of adenomatosis and bowel symptoms of 20-25 years, a delay in onset of colorectal cancer (CRC) of 10-20 years and death from CRC of 15-20 years, and although the lifetime penetrance of CRC appears to be high, CRC does not seem to develop in nearly all affected patients.", "output": {"entities": {"gene": [{"text": "AFAP", "start": 21, "end": 25}], "disease": [{"text": "adenomatosis", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Microglial activation (evaluated by immunohistochemistry using ionized calcium-binding adapter molecule-1 (Iba1) antibody) coincided with DNA fragmentation and neurodegeneration in CA1 hippocampus and cortex (assessed by deoxynucleotidyltransferase-mediated dUTP nick-end labeling (TUNEL), Fluoro-Jade-B and Nissl stain).", "output": {"entities": {"gene": [{"text": "Iba1", "start": 107, "end": 111}], "disease": [{"text": "neurodegeneration", "start": 160, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Anti-CD54 and anti-CD11b were tested in rats with indomethacin-induced chronic ileitis.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 19, "end": 24}], "disease": [{"text": "ileitis", "start": 79, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD11b", "start": 19, "end": 24}, "tail": {"text": "ileitis", "start": 79, "end": 86}}]}}, "schema": []}
{"input": "Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene.", "output": {"entities": {"gene": [{"text": "VIPAR", "start": 158, "end": 163}], "disease": [{"text": "ARC) syndrome", "start": 46, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VIPAR", "start": 158, "end": 163}, "tail": {"text": "ARC) syndrome", "start": 46, "end": 59}}]}}, "schema": []}
{"input": "Our genetic and functional data indicate that DYNC1I2 dysfunction probably causes an autosomal-recessive microcephaly syndrome and highlight further the critical roles of the dynein-1 complex in neurodevelopment.", "output": {"entities": {"gene": [{"text": "DYNC1I2", "start": 46, "end": 53}], "disease": [{"text": "microcephaly", "start": 105, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DYNC1I2", "start": 46, "end": 53}, "tail": {"text": "microcephaly", "start": 105, "end": 117}}]}}, "schema": []}
{"input": "Low-weight (10 gm) mechanically evoked responses of WDR neurons were significantly (P < 0. 05) facilitated 28 days after MIA injection compared with the responses in saline-treated rats, and spinal cord levels of anandamide and 2-arachidonoyl glycerol (2-AG) were increased in MIA-treated rats.", "output": {"entities": {"gene": [{"text": "MIA", "start": 121, "end": 124}], "disease": [{"text": "weight", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Introduction of exogenous ENC1 increased the growth rate of HCT116 colon cancer cells in serum-depleted medium.", "output": {"entities": {"gene": [{"text": "ENC1", "start": 26, "end": 30}], "disease": [{"text": "colon cancer", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "After a systematic literature review, seven studies with a total of 302 cases of HCC and 250 cases of chronic liver diseases were included in the analysis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 81, "end": 84}], "disease": [{"text": "liver diseases", "start": 110, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Mucin1 (MUC1) is a transmembrane glycoprotein that plays a key role as an oncogene in the tumorigenesis of many human adenocarcinomas.", "output": {"entities": {"gene": [{"text": "transmembrane glycoprotein", "start": 19, "end": 45}], "disease": [{"text": "tumorigenesis", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, WDR4 is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to GAMOS, if mutated.", "output": {"entities": {"gene": [{"text": "WDR4", "start": 13, "end": 17}], "disease": [{"text": "GAMOS", "start": 108, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WDR4", "start": 13, "end": 17}, "tail": {"text": "GAMOS", "start": 108, "end": 113}}]}}, "schema": []}
{"input": "Gene involved in the 3q27 translocation associated with B-cell lymphoma, BCL5, encodes a Krüppel-like zinc-finger protein.", "output": {"entities": {"gene": [{"text": "BCL5", "start": 73, "end": 77}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to test whether these type 1 diabetes-associated IFIH1 polymorphisms are associated with the occurrence of enterovirus infection in the gut of healthy children, or influence the lack of association between gut enterovirus infection and islet autoimmunity. After testing of 46, 939 Norwegian newborns, 421 children carrying the high risk genotype for type 1 diabetes (HLA-DR4-DQ8/DR3-DQ2) as well as 375 children without this genotype were included for monthly fecal collections from 3 to 35 months of age, and genotyped for the IFIH1 polymorphisms.", "output": {"entities": {"gene": [{"text": "DQ2", "start": 395, "end": 398}], "disease": [{"text": "enterovirus infection", "start": 119, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "SH01-MSC treatment of Hmox1 (KO) animals, which develop right ventricular (RV) infarction under prolonged hypoxia, resulted in normal RV systolic pressure, significant reduction of RV hypertrophy and prevention of RV infarction.", "output": {"entities": {"gene": [{"text": "MSC", "start": 5, "end": 8}], "disease": [{"text": "infarction", "start": 79, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In cases with liver diseases but not HCC, the proportion of the types of GGT mRNA was nearly the same as that in normal livers.", "output": {"entities": {"gene": [{"text": "HCC", "start": 37, "end": 40}], "disease": [{"text": "liver diseases", "start": 14, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "In a large family with Reifenstein syndrome, we previously performed molecular analysis of the androgen receptor gene.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 95, "end": 112}], "disease": [{"text": "Reifenstein syndrome", "start": 23, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 95, "end": 112}, "tail": {"text": "Reifenstein syndrome", "start": 23, "end": 43}}]}}, "schema": []}
{"input": "The GRS linked to insulin sensitivity only nominally increased the risk of an early prescription redemption with an insulin drug by 39% (HR [95% C. I.]", "output": {"entities": {"gene": [{"text": "GRS", "start": 4, "end": 7}], "disease": [{"text": "insulin sensitivity", "start": 18, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We found that FUS, an RNA/DNA-binding protein that has been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration, is important for the DNA damage response (DDR).", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 26, "end": 45}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 70, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We show that primary nodal large B-cell lymphomas (LBCLs), and secondary cutaneous deposits from such lymphomas, abnormally express the BMI-1, RING1, and HPH1 PcG genes in cycling neoplastic cells.", "output": {"entities": {"gene": [{"text": "HPH1", "start": 154, "end": 158}], "disease": [{"text": "secondary", "start": 63, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "To identify genomic regions that are associated with BRCA1-and BRCA2-mutated breast cancers we compared aCGH data from 130 mouse Brca1Δ/Δ; p53Δ/Δ, Brca2Δ/Δ; p53Δ/Δ and p53Δ/Δ mammary tumor groups with 103 human BRCA1-mutated, BRCA2-mutated and non-hereditary breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 63, "end": 68}], "disease": [{"text": "mammary tumor", "start": 175, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "The cloning, mapping and expression of a novel gene, BRL, related to the AF10 leukaemia gene.", "output": {"entities": {"gene": [{"text": "BRL", "start": 53, "end": 56}], "disease": [{"text": "leukaemia", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that widely heterogeneous missense or nonsense mutations of the MANB gene are the molecular basis underlying alpha-mannosidosis.", "output": {"entities": {"gene": [{"text": "MANB", "start": 87, "end": 91}], "disease": [{"text": "alpha-mannosidosis", "start": 132, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MANB", "start": 87, "end": 91}, "tail": {"text": "alpha-mannosidosis", "start": 132, "end": 150}}]}}, "schema": []}
{"input": "Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis.", "output": {"entities": {"gene": [{"text": "PRKCSH", "start": 47, "end": 53}], "disease": [{"text": "PCLD", "start": 41, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRKCSH", "start": 47, "end": 53}, "tail": {"text": "PCLD", "start": 41, "end": 45}}]}}, "schema": []}
{"input": "Monocarboxylate transporter 8 (MCT8) is an essential thyroid hormone (TH) transporter as humans with MCT8 mutations have severe neurological and endocrine abnormalities.", "output": {"entities": {"gene": [{"text": "MCT8", "start": 31, "end": 35}], "disease": [{"text": "abnormalities", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We observed significant correlation with drusen baseline area and the GRS in the age-related eye disease study (AREDS) dataset (ρ = 0. 175, P = 0. 006).", "output": {"entities": {"gene": [{"text": "GRS", "start": 70, "end": 73}], "disease": [{"text": "eye disease", "start": 93, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Our findings establish lesions in NARS2 as a new cause for nonsyndromic hearing loss and Leigh syndrome.", "output": {"entities": {"gene": [{"text": "NARS2", "start": 34, "end": 39}], "disease": [{"text": "Leigh syndrome", "start": 89, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NARS2", "start": 34, "end": 39}, "tail": {"text": "Leigh syndrome", "start": 89, "end": 103}}]}}, "schema": []}
{"input": "P21 and P15 proteins mainly distributed in the interstitium of portal areas, the piece meal necrotic sites and the nuclei and cytoplasm of the hepatocytes.", "output": {"entities": {"gene": [{"text": "P21", "start": 0, "end": 3}], "disease": [{"text": "necrotic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The specific aim of this study was to investigate whether frameshift mutations of the MBD4 gene and the codon 346 polymorphism were associated with microsatellite instability (MSI) and the risk for gastrointestinal cancer.", "output": {"entities": {"gene": [{"text": "MBD4 gene", "start": 86, "end": 95}], "disease": [{"text": "microsatellite instability", "start": 148, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Kaplan-Meier analysis revealed that the 5-year survival rate of patients without lymph node metastasis; positive expression of Rictor, Beclin1, and LC3; and negative expression of Raptor and mTOR were higher than those with these characteristics.", "output": {"entities": {"gene": [{"text": "LC3", "start": 148, "end": 151}], "disease": [{"text": "lymph node metastasis", "start": 81, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The FTO gene is associated with the early onset of overweight in the Japanese population as well as in European populations.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 4, "end": 12}], "disease": [{"text": "overweight", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "CARD15 mutation frequencies were greater in affected sib pairs than in sporadic CD cases but actually decreased in families with three or more affected sibs, raising the possibility of genetic heterogeneity.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 0, "end": 6}], "disease": [{"text": "CD", "start": 80, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CARD15", "start": 0, "end": 6}, "tail": {"text": "CD", "start": 80, "end": 82}}]}}, "schema": []}
{"input": "We also demonstrate that GDNF/Luc-NSCs prevent the degeneration of striatal neurons in the excitotoxic mouse model of Huntington' s disease and reduce the amphetamine-induced rotational behavior in mice bearing unilateral lesions.", "output": {"entities": {"gene": [{"text": "GDNF", "start": 25, "end": 29}], "disease": [{"text": "Huntington' s disease", "start": 118, "end": 139}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GDNF", "start": 25, "end": 29}, "tail": {"text": "Huntington' s disease", "start": 118, "end": 139}}]}}, "schema": []}
{"input": "These data suggested that FBXL21 may be associated with schizophrenia in the Irish samples.", "output": {"entities": {"gene": [{"text": "FBXL21", "start": 26, "end": 32}], "disease": [{"text": "schizophrenia", "start": 56, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FBXL21", "start": 26, "end": 32}, "tail": {"text": "schizophrenia", "start": 56, "end": 69}}]}}, "schema": []}
{"input": "Interestingly, mutations in the CNNM2 gene cause familial dominant hypomagnesaemia (MIM: 607803), a rare human disorder characterized by renal and intestinal magnesium (Mg (2 +)) wasting, which may lead to symptoms of Mg (2 +) depletion such as tetany, seizures and cardiac arrhythmias.", "output": {"entities": {"gene": [{"text": "CNNM2", "start": 32, "end": 37}], "disease": [{"text": "cardiac arrhythmias", "start": 266, "end": 285}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNNM2", "start": 32, "end": 37}, "tail": {"text": "cardiac arrhythmias", "start": 266, "end": 285}}]}}, "schema": []}
{"input": "The expression of cdc2, cdk2, cyclin B1 and cyclin A polypeptides was detectable in all lines examined, and moderate variation in protein level does not provide evidence for any obvious abnormalities in the cancer cell lines studied.", "output": {"entities": {"gene": [{"text": "cdc2", "start": 18, "end": 22}], "disease": [{"text": "abnormalities", "start": 186, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Mortality was associated with undetectable levels of alpha/beta interferon (IFN-α/β) in serum, ∼ 50-and ∼ 10-fold increases in levels of IFN-γ and tumor necrosis factor (TNF), respectively, increased virus replication, edema, vasculitis, hemorrhage, fever followed by hypothermia, oliguria, thrombocytopenia, and raised hematocrits.", "output": {"entities": {"gene": [{"text": "IFN", "start": 76, "end": 79}], "disease": [{"text": "oliguria", "start": 281, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "Nucleotide binding and oligomerization domain-like receptor protein 7 (NLRP7) is a major gene responsible for recurrent HMs and recently mutations in this gene have also been shown in 13% of women with sporadic, non-recurrent moles.", "output": {"entities": {"gene": [{"text": "NLRP7", "start": 71, "end": 76}], "disease": [{"text": "sporadic", "start": 202, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported.", "output": {"entities": {"gene": [{"text": "NFIX", "start": 66, "end": 70}], "disease": [{"text": "Malan syndrome", "start": 39, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NFIX", "start": 66, "end": 70}, "tail": {"text": "Malan syndrome", "start": 39, "end": 53}}]}}, "schema": []}
{"input": "Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8-24 years.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 78, "end": 99}], "disease": [{"text": "aggression", "start": 62, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "This study supports a strong association between the mild to moderate myopia group and the HGF SNP rs3735520 and the HGF haplotypes rs2286194-rs3735520-rs17501108 and rs12536657-rs2286194, and a moderate association of the extreme high myopia with rs2286194.", "output": {"entities": {"gene": [{"text": "HGF", "start": 91, "end": 94}], "disease": [{"text": "moderate myopia", "start": 61, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Because neutrophil elastase has been shown to decrease endothelial production of prostacyclin by inhibiting NOS activity, we examined whether neutrophil elastase inhibitors reduce pulmonary vascular injury and hypotension by inhibiting the decrease in pulmonary endothelial production of prostacyclin in rats administered endotoxin.", "output": {"entities": {"gene": [{"text": "neutrophil elastase", "start": 8, "end": 27}], "disease": [{"text": "hypotension", "start": 210, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H + ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome.", "output": {"entities": {"gene": [{"text": "ATP6V0A2", "start": 44, "end": 52}], "disease": [{"text": "wrinkly skin syndrome", "start": 171, "end": 192}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP6V0A2", "start": 44, "end": 52}, "tail": {"text": "wrinkly skin syndrome", "start": 171, "end": 192}}]}}, "schema": []}
{"input": "Since Southern blot demonstrated that both alleles of JH were rearranged, this translocation was suggested to have occurred at the step of VH-DH, or DH-DHJH recombination, one step later than that of DH-JH recombination where the common pattern of bcl-2 rearrangement generally occurs.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 248, "end": 253}], "disease": [{"text": "translocation", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "A selective increase in the NR2B subunit was present in all cortical dysplasia, whereas the expression level of NR2A and NR2B subunits was significantly downregulated in all patients with heterotopia.", "output": {"entities": {"gene": [{"text": "NR2A", "start": 112, "end": 116}], "disease": [{"text": "heterotopia", "start": 188, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.", "output": {"entities": {"gene": [{"text": "GATA-2", "start": 28, "end": 34}], "disease": [{"text": "dendritic cell, monocyte, B and NK lymphoid deficiency", "start": 60, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATA-2", "start": 28, "end": 34}, "tail": {"text": "dendritic cell, monocyte, B and NK lymphoid deficiency", "start": 60, "end": 114}}]}}, "schema": []}
{"input": "Serum samples from 489 patients with B19-related symptoms and asymptomatic controls from three countries were studied.", "output": {"entities": {"gene": [{"text": "B19", "start": 37, "end": 40}], "disease": [{"text": "asymptomatic", "start": 62, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Hpse2 knockout mutants display a distended bladder (megacystis) phenotype and abnormal voiding behavior similar to that found in patients.", "output": {"entities": {"gene": [{"text": "Hpse2", "start": 0, "end": 5}], "disease": [{"text": "megacystis", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "DNA hypermethylation of RASSF1A, APC, cytoglobin, 3OST2, PRDM14, FAM19A4 and PHACTR3 was analysed in sputum samples from symptomatic lung cancer patients and controls (learning set: 73 cases, 86 controls; validation set: 159 cases, 154 controls) by quantitative methylation-specific PCR.", "output": {"entities": {"gene": [{"text": "PHACTR3", "start": 77, "end": 84}], "disease": [{"text": "lung cancer", "start": 133, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "NAP acts neuroprotectively in vivo after retinal ischemia and optic nerve crush, and may have potential in treating optic nerve diseases.", "output": {"entities": {"gene": [{"text": "NAP", "start": 0, "end": 3}], "disease": [{"text": "optic nerve diseases", "start": 116, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The expression of retinoic acid receptor alpha is increased in the granule cells of the dentate gyrus in schizophrenia.", "output": {"entities": {"gene": [{"text": "retinoic acid receptor alpha", "start": 18, "end": 46}], "disease": [{"text": "schizophrenia", "start": 105, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "retinoic acid receptor alpha", "start": 18, "end": 46}, "tail": {"text": "schizophrenia", "start": 105, "end": 118}}]}}, "schema": []}
{"input": "This translocation results in a fusion of the TEL/ETV6 and AML1 genes.", "output": {"entities": {"gene": [{"text": "AML1", "start": 59, "end": 63}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Tumor necrosis factor (TNF)-alpha caused insulin resistance on glucose uptake and GLUT4 translocation by impairing insulin stimulation of insulin receptor (IR) and IR substrate (IRS)-1 and IRS-2 tyrosine phosphorylation, IRS-associated phosphatidylinositol 3-kinase activation, and Akt phosphorylation.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 138, "end": 154}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In comparison with non-alcoholic steatohepatitis, in HCV-infected subjects IFN-alpha and-beta mRNA levels were significantly lower, whereas IFN-gamma, IFNAR-1, STAT1alpha IRF-1, and IL-18 mRNA were upregulated.", "output": {"entities": {"gene": [{"text": "IFNAR", "start": 151, "end": 156}], "disease": [{"text": "alcoholic steatohepatitis", "start": 23, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Reverse transcription PCR analysis of ESCC and matched normal esophageal tissues provided the first evidence that melanoma metastasis clone D (MEMD), a gene similar to oncostatin M receptor beta, and KIAA0471 gene products are upregulated in ESCCs.", "output": {"entities": {"gene": [{"text": "KIAA0471", "start": 200, "end": 208}], "disease": [{"text": "esophageal", "start": 62, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The protein and messenger RNA (mRNA) expression of AGK was analyzed in six cervical cancer cell lines and four paired early-stage CSCC specimens and normal cervical tissues (NCT), using Western blotting and real-time PCR (RT-PCR).", "output": {"entities": {"gene": [{"text": "AGK", "start": 51, "end": 54}], "disease": [{"text": "cervical cancer", "start": 75, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These results are very promising especially with regard to the skeletal phenotype but it is unclear whether ERT also has beneficial effects for craniosynostosis and in other affected tissues in HPP such as brain and kidney.", "output": {"entities": {"gene": [{"text": "HPP", "start": 194, "end": 197}], "disease": [{"text": "craniosynostosis", "start": 144, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Gastric carcinomas with DNA replication errors (RER phenotype) display a particular clinicopathologic profile and carry a putative favorable prognosis.", "output": {"entities": {"gene": [{"text": "RER", "start": 48, "end": 51}], "disease": [{"text": "carcinomas", "start": 8, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of TFF3 upregulated the mRNA expressions of VEGF and HIF-1a induced by hypoxia, and stable knockdown of TFF3 impaired the mRNA upregulations of VEGF and HIF-1a induced by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 59, "end": 63}], "disease": [{"text": "hypoxia", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrate the growth-promoting properties of periostin, and a possible role of targeting this protein as a therapeutic option in colorectal cancers.", "output": {"entities": {"gene": [{"text": "periostin", "start": 59, "end": 68}], "disease": [{"text": "colorectal cancers", "start": 143, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "periostin", "start": 59, "end": 68}, "tail": {"text": "colorectal cancers", "start": 143, "end": 161}}]}}, "schema": []}
{"input": "In the present study, we found that hypoxia-induced nuclear translocation and accumulation of YAP acted as a survival input to promote resistance to SN38 in HCC.", "output": {"entities": {"gene": [{"text": "YAP", "start": 94, "end": 97}], "disease": [{"text": "hypoxia", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.", "output": {"entities": {"gene": [{"text": "LPD", "start": 186, "end": 189}], "disease": [{"text": "mononucleosis", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Enforced HOXA1 expression in HaCAT cells was not capable of modulating other events related to tumorigenesis, including apoptosis, adhesion, invasion, EMT and anchorage-independent growth.", "output": {"entities": {"gene": [{"text": "HOXA1", "start": 9, "end": 14}], "disease": [{"text": "tumorigenesis", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The mean serum concentration of HE4 was significantly higher in serum samples of patients with both endometrial (99. 2 pM, P < 0. 001) and ovarian (1125. 4 pM, P < 0. 001) cancer but not with ovarian endometriomas (46. 0 pM) or other types of endometriosis (45. 5 pM) as compared with healthy controls (40. 5 pM).", "output": {"entities": {"gene": [{"text": "HE4", "start": 32, "end": 35}], "disease": [{"text": "endometriosis", "start": 243, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 17, "end": 21}], "disease": [{"text": "Waardenburg syndrome type 1", "start": 35, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX3", "start": 17, "end": 21}, "tail": {"text": "Waardenburg syndrome type 1", "start": 35, "end": 62}}]}}, "schema": []}
{"input": "We have identified three Japanese boys and one girl from four unrelated families with RS-SCID caused by a genomic exon 3 deletion of the Artemis gene, resulting in loss of exon 3 and skipping of exon 4.", "output": {"entities": {"gene": [{"text": "Artemis", "start": 137, "end": 144}], "disease": [{"text": "RS-SCID", "start": 86, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Artemis", "start": 137, "end": 144}, "tail": {"text": "RS-SCID", "start": 86, "end": 93}}]}}, "schema": []}
{"input": "Deficiency of BTK leads to a developmental block in B cell differentiation; hence, the patients essentially lack antibody-producing plasma cells and are susceptible to various infections.", "output": {"entities": {"gene": [{"text": "BTK", "start": 14, "end": 17}], "disease": [{"text": "infections", "start": 176, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that mutations that disrupt the interactions of IL-10 with its receptors (IL-10RA and IL-10RB) and α2-macroglobulin (A2M) may enhance inflammation and modulate anti-tumor immunity.", "output": {"entities": {"gene": [{"text": "A2M", "start": 137, "end": 140}], "disease": [{"text": "tumor immunity", "start": 185, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aimed to explore the expression of ZnT-8 in the development of T2DM.", "output": {"entities": {"gene": [{"text": "ZnT-8", "start": 53, "end": 58}], "disease": [{"text": "T2DM", "start": 81, "end": 85}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ZnT-8", "start": 53, "end": 58}, "tail": {"text": "T2DM", "start": 81, "end": 85}}]}}, "schema": []}
{"input": "Of 44 ascites specimens, the expression of BAGE, MAGE-1, MAGE-3, and GAGE-1/2 was recognized in 17 specimens (63%), 2 specimens (7%), 8 specimens (30%), and 8 specimens (30%) with histologically proven ovarian carcinoma, respectively.", "output": {"entities": {"gene": [{"text": "MAGE-3", "start": 57, "end": 63}], "disease": [{"text": "ascites", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "The alteration of LIMD1 was highest (50%) in the mild dysplastic lesions and did not change significantly during progression of tumor indicating its association with this stage of the disease.", "output": {"entities": {"gene": [{"text": "LIMD1", "start": 18, "end": 23}], "disease": [{"text": "mild", "start": 49, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Alterations of serotonin (5-HT) neurotransmission are implicated in post-stroke depression (PSD).", "output": {"entities": {"gene": [{"text": "PSD", "start": 92, "end": 95}], "disease": [{"text": "stroke", "start": 73, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.", "output": {"entities": {"gene": [{"text": "aggrecan", "start": 37, "end": 45}], "disease": [{"text": "SEMD aggrecan type", "start": 32, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "aggrecan", "start": 37, "end": 45}, "tail": {"text": "SEMD aggrecan type", "start": 32, "end": 50}}]}}, "schema": []}
{"input": "The hypoxia-inducible factor and vascular endothelial growth factor (HIF-VEGF) pathway in hypoxic conditions of the middle ear due to dysfunction of the eustachian tube is still unknown, but it is considered as one pathogenetic mechanism in otitis media.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 73, "end": 77}], "disease": [{"text": "hypoxic", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Our results may suggest the additive effect of ACE and CMA gene polymorphisms on the increase in left ventricular mass in NIDDM patients.", "output": {"entities": {"gene": [{"text": "ACE", "start": 47, "end": 50}], "disease": [{"text": "left ventricular mass", "start": 97, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "(U87-MG) and intracranial (SNB19) injections of Ad-uPAR-infected glioma cells did not produce tumors in nude mice.", "output": {"entities": {"gene": [{"text": "U87", "start": 1, "end": 4}], "disease": [{"text": "glioma", "start": 65, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Both WM115 and WM239 cells expressed VEGF and VEGFR2, the levels of which were modulated by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 37, "end": 41}], "disease": [{"text": "hypoxia", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "There was a significant decrease in the expression of transcripts for NR1 and NR2A subunits and SAP102 in bipolar disorder.", "output": {"entities": {"gene": [{"text": "SAP102", "start": 96, "end": 102}], "disease": [{"text": "bipolar disorder", "start": 106, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SAP102", "start": 96, "end": 102}, "tail": {"text": "bipolar disorder", "start": 106, "end": 122}}]}}, "schema": []}
{"input": "The genotype ss491228441TT and the minor allele ss491228441G of the IL10RA were more frequent in the group of asymptomatic children (P = 0. 006 and P = 0. 007, respectively).", "output": {"entities": {"gene": [{"text": "IL10RA", "start": 68, "end": 74}], "disease": [{"text": "asymptomatic", "start": 110, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Little is known about the roles of TF and PAR-2 in endometriosis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 42, "end": 45}], "disease": [{"text": "endometriosis", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "IL-1β (-31), IL-6 (-174,-572,-597), and IL-12B (3' + 1158) genotypes were analyzed with pyrosequencing and analyzed using a regression model for susceptibility (sterile, microbial keratitis, controls) and severity.", "output": {"entities": {"gene": [{"text": "IL-12B", "start": 40, "end": 46}], "disease": [{"text": "regression", "start": 124, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 65, "end": 70}], "disease": [{"text": "MCD", "start": 125, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 65, "end": 70}, "tail": {"text": "MCD", "start": 125, "end": 128}}]}}, "schema": []}
{"input": "Antisurvival and antiproliferative effects of EGFR-tk inhibition plus/minus irradiation were counteracted by adhesion to Fn relative to the control substratum, poly-L-lysine.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 46, "end": 50}], "disease": [{"text": "adhesion", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "GJA1 homozygous hypomorphic mutations can result in a phenotype in the HSS/ODDD spectrum.", "output": {"entities": {"gene": [{"text": "GJA1", "start": 0, "end": 4}], "disease": [{"text": "HSS", "start": 71, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJA1", "start": 0, "end": 4}, "tail": {"text": "HSS", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "Furthermore, the IFNA10 and IFNA4 mutants resulted in an impairment of the suppression of HCV RNA replication in HuH7 cells, and the administration of the recombinant IFN subtypes restored DSS-induced colonic inflammation through the upregulation of CD4 (+) Treg cells.", "output": {"entities": {"gene": [{"text": "IFNA4", "start": 28, "end": 33}], "disease": [{"text": "inflammation", "start": 209, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 95, "end": 99}], "disease": [{"text": "enlargement", "start": 34, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The laboratory diagnosis of ataxia-telangiectasia (A-T) currently relies upon measurement of serum alphafetoprotein (AFP) and cellular sensitivity to ionizing radiation.", "output": {"entities": {"gene": [{"text": "AFP", "start": 117, "end": 120}], "disease": [{"text": "telangiectasia", "start": 35, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In addition to its magnesium transporter function, TRPM7 has been implicated as a signaling kinase involved in vascular smooth muscle cell growth, apoptosis, adhesion, contraction, cytoskeletal organization, and migration, important processes involved in vascular remodeling associated with hypertension and other vascular diseases.", "output": {"entities": {"gene": [{"text": "TRPM7", "start": 51, "end": 56}], "disease": [{"text": "adhesion", "start": 158, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "We further find that giant ankyrin-G promotes GABAergic synapse stability through opposing endocytosis of GABAA receptors, and requires a newly described interaction with GABARAP, a GABAA receptor-associated protein.", "output": {"entities": {"gene": [{"text": "GABARAP", "start": 171, "end": 178}], "disease": [{"text": "giant", "start": 21, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We provide the first evidence of an abnormal activation of the Bcl-2/adenovirus E1B 19-kDa interacting protein 3 (BNip3) in cells expressing mutant Huntingtin.", "output": {"entities": {"gene": [{"text": "BNip3", "start": 114, "end": 119}], "disease": [{"text": "adenovirus", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "PERK silencing results in decreased glioma cell viability and ATP/lactate production upon low glucose stress, which is mediated by partially blocked AKT activation and subsequent inhibition of Hexokinase II (HK2)' s mitochondria translocation.", "output": {"entities": {"gene": [{"text": "AKT", "start": 149, "end": 152}], "disease": [{"text": "translocation", "start": 229, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "MT-ND1 gene expression was significantly increased in the BD group compared with the C group.", "output": {"entities": {"gene": [{"text": "MT-ND1", "start": 0, "end": 6}], "disease": [{"text": "BD", "start": 58, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MT-ND1", "start": 0, "end": 6}, "tail": {"text": "BD", "start": 58, "end": 60}}]}}, "schema": []}
{"input": "We identified heat shock protein 70 (HSP70) as a protein interactor of both wild type and Crohn mutant NOD2.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 103, "end": 107}], "disease": [{"text": "Crohn", "start": 90, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOD2", "start": 103, "end": 107}, "tail": {"text": "Crohn", "start": 90, "end": 95}}]}}, "schema": []}
{"input": "One NKX2-5 mutation-positive child from this family had HLHS, although no mutations were subsequently found in 18 patients with sporadic or familial HLHS.", "output": {"entities": {"gene": [{"text": "NKX2-5", "start": 4, "end": 10}], "disease": [{"text": "sporadic", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms of the gene encoding the serotonin transporter-specifically, length variation in the serotonin--transporter-linked polymorphic region (5-HTTLPR), a single-nucleotide polymorphism in the 5-HTTLPR (rs25531), and variable number of tandem repeats (VNTR) in the second intron 2 (STin2)--have been implicated in the development of post-stroke depression (PSD).", "output": {"entities": {"gene": [{"text": "PSD", "start": 364, "end": 367}], "disease": [{"text": "stroke", "start": 345, "end": 351}]}, "relations": {}}, "schema": []}
{"input": "The entire coding region of the RNF213 gene was sequenced in 204 patients with MMD, and corresponding variants were checked in 62 pairs of parents, 13 mothers and 4 fathers of the patients, and 283 normal controls. Clinical information was collected.", "output": {"entities": {"gene": [{"text": "RNF213", "start": 32, "end": 38}], "disease": [{"text": "MMD", "start": 79, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RNF213", "start": 32, "end": 38}, "tail": {"text": "MMD", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "Knockdown or inhibition of HIF-1α and NF-κB by small interfering RNA or specific small molecule inhibitors blocked IL-17A-mediated and hypoxia-mediated MMP2 and MMP9 expression, cell migration, and invasion.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 115, "end": 121}], "disease": [{"text": "hypoxia", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "To further elucidate the function of SOX2 in tumorigenesis of cancer cells, A549 cells were established with expression of luciferase and doxycycline-inducible shRNA targeting SOX2.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 37, "end": 41}], "disease": [{"text": "tumorigenesis", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Higher SLC6A4 promoter methylation status was independently associated with PSD both at 2 weeks and more prominently at 1 year after stroke, and was significantly associated with the worsening of depressive symptoms over one year.", "output": {"entities": {"gene": [{"text": "PSD", "start": 76, "end": 79}], "disease": [{"text": "depressive symptoms", "start": 196, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Since homozygous deletions have not previously been reported in RER (+) carcinomas at any genomic site, an extremely high rate of site-specific deletion must exist within the FRA3B-related FHIT gene.", "output": {"entities": {"gene": [{"text": "RER", "start": 64, "end": 67}], "disease": [{"text": "carcinomas", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Use of WSLP to deliver hypoxia-responsive driven expression of hVEGF to ischemic rabbit myocardium has proven to provide for even better expression in cardiovascular cells than Terplex and has demonstrated a significant reduction in infarct size (13 +/-4%, p < 0. 001) over constitutive VEGF expression (32 +/-7%, p = 0. 007) and sham-injected controls (48 +/-7%).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 64, "end": 68}], "disease": [{"text": "hypoxia", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "DDX1 is required for testicular tumorigenesis, partially through the transcriptional activation of 12p stem cell genes.", "output": {"entities": {"gene": [{"text": "DDX1", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Fully spread GATA-1 platelets incubated with fibrinogen coated gold (Fgn/Au) particles before or after fixation bound as many Fgn/Au particles as normal spread platelets and moved the Fgn/Au-GPIIb/IIIa complexes from peripheral margins to cell centers and into channels of the OCS as efficiently.", "output": {"entities": {"gene": [{"text": "GATA-1", "start": 13, "end": 19}], "disease": [{"text": "fibrinogen", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Several ocular abnormalities including retinal dysplasia, ERG abnormalities, and retinal detachments have been reported in patients with MEB.", "output": {"entities": {"gene": [{"text": "ERG", "start": 58, "end": 61}], "disease": [{"text": "abnormalities", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "In the present study, neuroblastoma cells from a 13-month-old infant boy born after intracytoplasmatic sperm injection were characterized by combining conventional cytogenetics, fluorescence in situ hybridization (FISH), comparative genomic hybridization, and quantitative polymerase chain reaction methods.", "output": {"entities": {"gene": [{"text": "FISH", "start": 214, "end": 218}], "disease": [{"text": "neuroblastoma", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "BAT represents a diagnostic test with 100% specificity in allergic patients with mastocytosis and these patients are better to be monitored for a longer period during IT.", "output": {"entities": {"gene": [{"text": "BAT", "start": 0, "end": 3}], "disease": [{"text": "mastocytosis", "start": 81, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "With strong basal promoter activity and induction under hypoxia, pRTP801-VEGF may be useful for gene therapy for ischemic disease.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 73, "end": 77}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of COX2 or the PGE (2) receptors EP2/EP4 in MDSCs suppressed expression of CXCR4 and MDSC responsiveness to CXCL12 or ovarian cancer ascites.", "output": {"entities": {"gene": [{"text": "EP4", "start": 48, "end": 51}], "disease": [{"text": "ascites", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR.", "output": {"entities": {"gene": [{"text": "SAT-1", "start": 14, "end": 19}], "disease": [{"text": "colon cancer", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that the NUP88-NUP98-RAE1-APC/CCDH1 axis contributes to aneuploidy and suggest that it may be deregulated in the initiating stages of a broad spectrum of human cancers.", "output": {"entities": {"gene": [{"text": "RAE1", "start": 48, "end": 52}], "disease": [{"text": "aneuploidy", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 43, "end": 47}], "disease": [{"text": "WS-I", "start": 68, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX3", "start": 43, "end": 47}, "tail": {"text": "WS-I", "start": 68, "end": 72}}]}}, "schema": []}
{"input": "Among women with high-grade serous ovarian cancer, BRCA2 mutation, but not BRCA1 deficiency, was associated with improved survival, improved chemotherapy response, and genome instability compared with BRCA wild-type.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 75, "end": 80}], "disease": [{"text": "genome instability", "start": 168, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "FUS/TLS (denoting fused in sarcoma/translocated in liposarcoma [MIM 137070]) codifies an RNA binding protein.", "output": {"entities": {"gene": [{"text": "RNA binding protein", "start": 89, "end": 108}], "disease": [{"text": "sarcoma", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Binding assays showed that CD36 was the most common adhesion partner of the parasite panel, followed by ICAM-1 and TSP-1, and that CD36 and ICAM-1 binding variants were highly predicted by adhesion domain sequence classification.", "output": {"entities": {"gene": [{"text": "TSP-1", "start": 115, "end": 120}], "disease": [{"text": "adhesion", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.", "output": {"entities": {"gene": [{"text": "NLRP7", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We used an enzyme-linked immunosorbent assay to measure VEGF secretion by transfected cells cultured in hypoxic (1% O2) or nonhypoxic (20% O2) conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 56, "end": 60}], "disease": [{"text": "hypoxic", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "To investigate the feasibility of NBS for Pompe disease in Japan, we obtained dried blood spots (DBSs) from 496 healthy Japanese controls, 29 Japanese patients with Pompe disease, and five obligate carriers, and assayed GAA activity under the following conditions: (1) total GAA measured at pH 3. 8, (2) GAA measured at pH 3. 8 in the presence of acarbose, and (3) neutral glucosidase activity (NAG) measured at pH 7. 0 without acarbose.", "output": {"entities": {"gene": [{"text": "GAA", "start": 220, "end": 223}], "disease": [{"text": "Pompe disease", "start": 42, "end": 55}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GAA", "start": 220, "end": 223}, "tail": {"text": "Pompe disease", "start": 42, "end": 55}}]}}, "schema": []}
{"input": "The expression and mono-ubiquitination of SMAD4 were also analyzed.", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 42, "end": 47}], "disease": [{"text": "mono", "start": 19, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We can speculate that these sequence variants (or others in perfect linkage disequilibrium) create a predisposition to high production of OPN, and that this in turn may confer susceptibility to SLE.", "output": {"entities": {"gene": [{"text": "OPN", "start": 138, "end": 141}], "disease": [{"text": "SLE", "start": 194, "end": 197}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPN", "start": 138, "end": 141}, "tail": {"text": "SLE", "start": 194, "end": 197}}]}}, "schema": []}
{"input": "The objective of the current study was to determine the promoter methylation status of GSTP1 and MDR1, which encode GST-pi and P-glycoprotein (Pgp), respectively, in patients with bronchioloalveolar carcinoma (BAC) and to investigate whether methyltransferase 1 (DNMT1)-mediated GSTP1 or MDR1 methylation are responsible for disease progression and prognosis in patients with BAC.", "output": {"entities": {"gene": [{"text": "methyltransferase 1", "start": 242, "end": 261}], "disease": [{"text": "bronchioloalveolar carcinoma", "start": 180, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "The translocation events occurred between exons 3 and 7 of the RUNX1 gene.", "output": {"entities": {"gene": [{"text": "RUNX1 gene", "start": 63, "end": 73}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Importantly, HUVEC migration and tube formation induced by supernatants from lung adenocarcinoma cells lacking either or both MIF and D-DT are substantially reduced when compared with normal supernatants.", "output": {"entities": {"gene": [{"text": "D-DT", "start": 134, "end": 138}], "disease": [{"text": "lung adenocarcinoma", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Hypermethylation of the RASSF1A [Ras association (RalGDS/AF-6) domain family member 1A] gene is frequently observed in hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "AF-6", "start": 57, "end": 61}], "disease": [{"text": "hepatocellular carcinoma", "start": 119, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Intraventricular administration of FSH, ACTH or prolactin caused hyperthermia, increased metabolism and/or cutaneous vasoconstriction.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 40, "end": 44}], "disease": [{"text": "hyperthermia", "start": 65, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 40, "end": 44}, "tail": {"text": "hyperthermia", "start": 65, "end": 77}}]}}, "schema": []}
{"input": "We report here that suppression of both EGFR and c-erbB-2 results in regression of aneuploidy and genomic imbalances in NIH: OVCAR-8 cells, restores a more normal phenotype, and results in a more normal gene expression profile.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 40, "end": 44}], "disease": [{"text": "regression", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "One showed growth retardation, craniofacial dysmorphism, syndactyly, developmental delay and a de novo deletion (~ 8. 5Mb) on chromosome 7q21. 13-q21. 3, including DLX5 and DLX6.", "output": {"entities": {"gene": [{"text": "DLX6", "start": 173, "end": 177}], "disease": [{"text": "syndactyly", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "When we used the median expression levels of the NER proteins in the controls as cutoff values, we found that a significantly increased risk of SCCHN was associated with low expression of XPA [odds ratio (OR), 2. 99; 95% confidence interval (CI), 1. 22-7. 47], XPC (OR, 2. 46; 95% CI, 1. 04-5. 87), XPD (OR, 3. 02; 95% CI, 1. 18-7. 76), and XPF (OR, 5. 29; 95% CI, 2. 01-13. 9), but not ERCC1 and XPG, after adjustment for age, sex, ethnicity, smoking, alcohol use, and sample storage time.", "output": {"entities": {"gene": [{"text": "NER", "start": 49, "end": 52}], "disease": [{"text": "smoking", "start": 444, "end": 451}]}, "relations": {}}, "schema": []}
{"input": "We observed several statistically significant interactions after adjustment for multiple comparisons, including interactions between our dietary oxidative balance score and CD40LG and TNFSF1A; between cigarette smoking and TLR1, TLR4, and TNF; between body mass index (BMI) among pre-menopausal women and TRAF2; and between regular use of aspirin/non-steroidal anti-inflammatory drugs and TLR3 and TRA2.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 229, "end": 233}], "disease": [{"text": "body mass index", "start": 252, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Analyses revealed that alleles G, T and C at the SNPs HSPA1A + 1911 C/G, HSPA1A + 438 C/T and HSPA1L + 2437 T/C, respectively, were associated with protection from serious hypersensitivity reactions to CBZ, with the associated alleles falling on a common haplotype.", "output": {"entities": {"gene": [{"text": "HSPA1A", "start": 54, "end": 60}], "disease": [{"text": "hypersensitivity reactions", "start": 172, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "We found that angiopoietin-like protein 2 (Angptl2) was secreted by adipose tissue and that its circulating level was closely related to adiposity, systemic insulin resistance, and inflammation in both mice and humans.", "output": {"entities": {"gene": [{"text": "Angptl2", "start": 43, "end": 50}], "disease": [{"text": "inflammation", "start": 181, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "DFSP often reveals a specific chromosome translocation, t (17; 22) (q22; q13), which results in the fusion of collagen 1 alpha 1 (COL1A1) gene and platelet-derived growth factor-B (PDGFB) gene.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 181, "end": 186}], "disease": [{"text": "chromosome translocation", "start": 30, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We constructed an IL-24/OSM bicistronic adenovirus and assessed its combined effect on A375 human melanoma cells in vitro and in vivo by detecting and comparing apoptosis in the bicistronic antioncogene group (Ad-IL-24-OSM) and in the IL-24 or OSM single antioncogene group.", "output": {"entities": {"gene": [{"text": "OSM", "start": 24, "end": 27}], "disease": [{"text": "melanoma", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The strongest and most significant inverse correlations between serum MBL and respiratory disease were found in patient group III and in 17 patients with multiple humoral and/or cellular abnormalities.", "output": {"entities": {"gene": [{"text": "MBL", "start": 70, "end": 73}], "disease": [{"text": "abnormalities", "start": 187, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Mutants of the mineralocorticoid receptor cannot explain the frequent syndrome of pre-eclampsia.", "output": {"entities": {"gene": [{"text": "mineralocorticoid receptor", "start": 15, "end": 41}], "disease": [{"text": "pre-eclampsia", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "These polymorphisms could also be associated with increased risk for disorders such as sepsis and necrotizing enterocolitis, which lead to renal hypoperfusion and ARF.", "output": {"entities": {"gene": [{"text": "ARF", "start": 163, "end": 166}], "disease": [{"text": "sepsis", "start": 87, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The genomic expression of 20 stroma-derived factors, including the androgen receptor (AR), growth factors (FGF2, FGF7, FGF10, HGF, TGFβ, PDGFB), protein implicated in invasion (MMP-2, MMP-9 and MMP-11), inflammation (IL-6, IL-17, STAT-3 and NFκB), stroma/epithelium interaction (CDH11, FAP, CXCL12 and CXCL14) and chaperones (HPA1A and HSF1), was evaluated in cultured fibroblasts both from BHP and prostate carcinomas (PCa).", "output": {"entities": {"gene": [{"text": "HSF1", "start": 336, "end": 340}], "disease": [{"text": "inflammation", "start": 203, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Four weeks after VEGF or CBD-VEGF was injected into the infarct border zone, cardiac function detected by echocardiography and hemodynamics was preserved in the CBD-VEGF group.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "infarct", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Further investigations revealed that knock-down of AGO2 by custom-made AGO2 siRNA in HEK-293 cells resulted in silencing of the expression of target genes vascular endothelial growth factor A and histone deacetylase 2, which are known to be involved in the development of myeloid leukaemia.", "output": {"entities": {"gene": [{"text": "histone deacetylase 2", "start": 196, "end": 217}], "disease": [{"text": "myeloid leukaemia", "start": 272, "end": 289}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "histone deacetylase 2", "start": 196, "end": 217}, "tail": {"text": "myeloid leukaemia", "start": 272, "end": 289}}]}}, "schema": []}
{"input": "Overexpression of Trx also caused a significant increase of VEGF in protein and RNA levels under normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 60, "end": 64}], "disease": [{"text": "hypoxic", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 55, "end": 59}], "disease": [{"text": "ADPEAF", "start": 83, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LGI1", "start": 55, "end": 59}, "tail": {"text": "ADPEAF", "start": 83, "end": 89}}]}}, "schema": []}
{"input": "CD39 decreased inflammation, organ damage, immune cell apoptosis, and bacterial load.", "output": {"entities": {"gene": [{"text": "CD39", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 15, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Not carrying at least 1 IGF1 (CA) 19 repeat allele and a high body mass index explained 8% and 14%, respectively, of the variation IGFBP3 levels.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 131, "end": 137}], "disease": [{"text": "body mass index", "start": 62, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Cox regression survival analysis indicated that an increased probability of death or new vascular events was found in patients with GCH1 3'-UTR + 243 C/T or T/T genotype compared with those with GCH1 3'-UTR C/C genotype (40. 6% vs 25. 5%), GCH1 3'-UTR + 243 C/T or T/T genotype relative to GCH1 3'-UTR C/C genotype was associated with the increased risk of death or vascular events even after adjustment for other risk factors (OR = 2. 171, 95% CI: 1. 066-4. 424, P = 0. 033).", "output": {"entities": {"gene": [{"text": "GCH1", "start": 132, "end": 136}], "disease": [{"text": "regression", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Here we show that p70 (S6K) functions in epithelial to mesenchymal transition (EMT) responsible for the acquisition of invasiveness during tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 79, "end": 82}], "disease": [{"text": "tumor progression", "start": 139, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The per-allele increase in body mass index ranged from 0. 16 units (BAT2) to 0. 38 units (SH2B1).", "output": {"entities": {"gene": [{"text": "BAT2", "start": 68, "end": 72}], "disease": [{"text": "body mass index", "start": 27, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "Androgen receptor", "start": 0, "end": 17}], "disease": [{"text": "androgen insensitivity syndrome", "start": 88, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Androgen receptor", "start": 0, "end": 17}, "tail": {"text": "androgen insensitivity syndrome", "start": 88, "end": 119}}]}}, "schema": []}
{"input": "Germ line and somatic mutations in MLH3 have been identified in a small fraction of colorectal cancers, but the role of MLH3 in colorectal cancer tumorigenesis remains controversial.", "output": {"entities": {"gene": [{"text": "MLH3", "start": 35, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Together with the previous identification of mutations in HARS2, encoding mitochondrial histidyl-tRNA synthetase, mutations in CLPP expose dysfunction of mitochondrial protein homeostasis as a cause of Perrault syndrome.", "output": {"entities": {"gene": [{"text": "CLPP", "start": 127, "end": 131}], "disease": [{"text": "Perrault syndrome", "start": 202, "end": 219}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLPP", "start": 127, "end": 131}, "tail": {"text": "Perrault syndrome", "start": 202, "end": 219}}]}}, "schema": []}
{"input": "The inductive effect of sustained endotoxemia relative to pair-fed controls could not be explained by differences in expression of GHR, SOCS-3, or CIS but coincided with normalized PEPCK and IGFBP-1 levels, suggesting better hepatic insulin sensitivity in these animals.", "output": {"entities": {"gene": [{"text": "SOCS-3", "start": 136, "end": 142}], "disease": [{"text": "insulin sensitivity", "start": 233, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "The frequency of factor V Leiden in SLE patients in comparable to that in the Dutch population (5%) and a risk factor for venous thrombosis (odds ratio 4. 9; CI 1. 2-19. 6), but not for arterial thrombosis.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 17, "end": 32}], "disease": [{"text": "arterial thrombosis", "start": 186, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "The authors examined the relation between long-term obesity and common mental disorders (CMD) by utilizing the known relation between fat mass and obesity-associated (FTO) genotype and body mass index (BMI; weight (kg)/height (m) (2)).", "output": {"entities": {"gene": [{"text": "FTO", "start": 167, "end": 170}], "disease": [{"text": "height", "start": 219, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry confirmed expression of c-myb in the lesional skin of the majority of CTCL patients with a tendency towards higher expression in SS (1. 86 +/-0. 5) versus MF (1. 2 +/-0. 7) while c-myb was absent from the lesional skin of patients with inflammatory skin diseases.", "output": {"entities": {"gene": [{"text": "c-myb", "start": 45, "end": 50}], "disease": [{"text": "skin diseases", "start": 270, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Their shared chromosomal deletion encompassed MN1, PITPNB and TTC28.", "output": {"entities": {"gene": [{"text": "MN1", "start": 46, "end": 49}], "disease": [{"text": "chromosomal deletion", "start": 13, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Overall, we found 52 different pathogenic PMS2 variants explaining 121 Lynch syndrome and nine CMMRD patients.", "output": {"entities": {"gene": [{"text": "PMS2", "start": 42, "end": 46}], "disease": [{"text": "CMMRD", "start": 95, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMS2", "start": 42, "end": 46}, "tail": {"text": "CMMRD", "start": 95, "end": 100}}]}}, "schema": []}
{"input": "Single nucleotide polymorphisms (SNPs) in the leptin receptor are associated with measures of body weight.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 46, "end": 61}], "disease": [{"text": "body weight", "start": 94, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The ACE genotype of all subjects was determined by PCR and correlated with left ventricular mass (LVM) indices.", "output": {"entities": {"gene": [{"text": "ACE", "start": 4, "end": 7}], "disease": [{"text": "left ventricular mass", "start": 75, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "These data confirm the influential role of the FTO gene in obesity in the French female population and, in addition, revealed the role of FTO in insulin resistance and MetS.", "output": {"entities": {"gene": [{"text": "FTO", "start": 47, "end": 50}], "disease": [{"text": "insulin resistance", "start": 145, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, deletion of PKM2 negatively impacted hypoxia-induced HIF-1α accumulation and promoter activity ultimately resulting in impaired secretion of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 154, "end": 158}], "disease": [{"text": "hypoxia", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Coding variants at hexa-allelic amino acid 13 of HLA-DRB1 explain independent SNP associations with follicular lymphoma risk.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 49, "end": 57}], "disease": [{"text": "follicular lymphoma", "start": 100, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HLA-DRB1", "start": 49, "end": 57}, "tail": {"text": "follicular lymphoma", "start": 100, "end": 119}}]}}, "schema": []}
{"input": "The association with GSTT1 was present among both smokers and nonsmokers, but was modified by body mass index, a recognized risk factor for RCC; among subjects in the lowest tertile of body mass index, the OR for GSTT1 null was 4. 8 (95% CI, 1. 8-13. 0).", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 21, "end": 26}], "disease": [{"text": "body mass index", "start": 94, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The CD44 (sol) transfected cells showed higher cell proliferation and clonal growth in vitro, confirmed by MTT and clonogenic assays respectively, when compared to the control cells.", "output": {"entities": {"gene": [{"text": "CD44", "start": 4, "end": 8}], "disease": [{"text": "sol", "start": 10, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "We postulate that the Rac2-MRC-cIII pathway triggers ROS-mediated genomic instability in LSCs and primitive LPCs, which could be targeted to prevent the relapse and malignant progression of CML.", "output": {"entities": {"gene": [{"text": "Rac2", "start": 22, "end": 26}], "disease": [{"text": "genomic instability", "start": 66, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The VEGF/PEDF ratio favored angiogenesis (> 1. 0) at P14 and P 18 when intravitreous neovascularization occurred in the ROP model.", "output": {"entities": {"gene": [{"text": "P14", "start": 53, "end": 56}], "disease": [{"text": "neovascularization", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Haemophilia A is the most common X-linked blood coagulation disorder; it is caused by deficiency of factor VIII activity (FVIII: C).", "output": {"entities": {"gene": [{"text": "FVIII", "start": 122, "end": 127}], "disease": [{"text": "Haemophilia A", "start": 0, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 122, "end": 127}, "tail": {"text": "Haemophilia A", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "A minimal difference in avascularity was observed at postnatal day 12 in the retinas of TRAIL (-/-) mice after hyperoxia-exposure compared with wild-type mice, suggesting that TRAIL does not play a major role in the vaso-obliterative phase of oxygen-induced retinopathy.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 88, "end": 93}], "disease": [{"text": "retinopathy", "start": 258, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "As uncontrolled expression of c-myc is known to induce apoptosis, we thought that polymorphism in the other myc gene, L-myc gene, which is structually similar to c-myc and reported to be expressed in the kidney, may have a role in the induction of apoptosis and thus have role in chronic renal failure.", "output": {"entities": {"gene": [{"text": "myc gene", "start": 108, "end": 116}], "disease": [{"text": "chronic renal failure", "start": 280, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia.", "output": {"entities": {"gene": [{"text": "AML1", "start": 40, "end": 44}], "disease": [{"text": "translocation", "start": 6, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "FACS analysis revealed Vbeta subset expansions of CD4 (+) and CD8 (+) T cells from the liver or bile duct remnant in all patients with biliary atresia and only 1 control.", "output": {"entities": {"gene": [{"text": "CD4", "start": 50, "end": 53}], "disease": [{"text": "biliary atresia", "start": 135, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In addition, the IL-17A and IL-17F polymorphisms can interact with smoking and drinking to enhance the risk of OSCC developing.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 17, "end": 23}], "disease": [{"text": "drinking", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Targeted knockdown of the death-associated protein kinase (DAPK) expression in the endometrial adenocarcinoma HHUA cells reportedly induces cell death by enhancing the tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-mediated apoptosis in an autocrine/paracrine manner.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 225, "end": 230}], "disease": [{"text": "endometrial adenocarcinoma", "start": 83, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha protein was detectable by immunohistochemistry in blood eosinophils of hypereosinophilic subjects, and purified blood eosinophils from three atopic donors exhibited cycloheximide-inhibitable spontaneous release of TNF-alpha in vitro.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 0, "end": 9}], "disease": [{"text": "atopic", "start": 151, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "However, many human melanoma cells do not express beta3 integrins.", "output": {"entities": {"gene": [{"text": "beta3", "start": 50, "end": 55}], "disease": [{"text": "melanoma", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "A recombinant adenovirus-5 vector containing a CMV promoter and wt-p53 cDNA, called Ad-p53, was established and transduced to ARO and ARO-N cells.", "output": {"entities": {"gene": [{"text": "ARO", "start": 126, "end": 129}], "disease": [{"text": "adenovirus", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Human: ten patients with heterozygous mutations in DSP without overt structural heart disease (DSP +) and 12 controls with supraventricular tachycardia were studied by high-density electrophysiological mapping of the right ventricle.", "output": {"entities": {"gene": [{"text": "DSP", "start": 51, "end": 54}], "disease": [{"text": "heart disease", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Recommended management options aimed toward maximizing safety and optimizing neurocognitive outcome include: (1) biannual then annual in-hospital comprehensive evaluation with (i) physiologic studies during awake and asleep states to assess ventilatory needs during varying levels of activity and concentration, in all stages of sleep, with spontaneous breathing, and with artificial ventilation, and to assess ventilatory responsiveness to physiologic challenges while awake and asleep, (ii) 72-hour Holter monitoring, (iii) echocardiogram, (iv) evaluation of ANS dysregulation across all organ systems affected by the ANS, and (v) formal neurocognitive assessment; (2) barium enema or manometry and/or full thickness rectal biopsy for patients with a history of constipation; and (3) imaging for neural crest tumors in individuals at greatest risk based on PHOX2B mutation.", "output": {"entities": {"gene": [{"text": "PHOX2B", "start": 859, "end": 865}], "disease": [{"text": "breathing", "start": 353, "end": 362}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to investigate the possible association between polymorphisms of HPA axis genes-CRHR1 (corticotrophin-releasing hormone receptor), NR3C1 (glucocorticoid receptor) and AVPR1B (arginine vasopressin receptor) and dimensions of bipolar disorder assessed by OPCRIT.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 200, "end": 220}], "disease": [{"text": "bipolar disorder", "start": 249, "end": 265}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "arginine vasopressin", "start": 200, "end": 220}, "tail": {"text": "bipolar disorder", "start": 249, "end": 265}}]}}, "schema": []}
{"input": "The findings reported here demonstrate that SN38 (the active metabolite of CPT-11) induces the tyrosine phosphorylation of EGFR within 5 min, followed by the induction of transcripts and/or proteins of the heparin-binding EGF-like growth factor, amphiregulin, transforming growth factor-alpha, and interlukin-8 (IL-8) in AGS gastric cancer cells.", "output": {"entities": {"gene": [{"text": "heparin-binding EGF-like growth factor", "start": 206, "end": 244}], "disease": [{"text": "gastric cancer", "start": 325, "end": 339}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "heparin-binding EGF-like growth factor", "start": 206, "end": 244}, "tail": {"text": "gastric cancer", "start": 325, "end": 339}}]}}, "schema": []}
{"input": "Here, we found reduced PDYN mRNA expression in the postmortem human amygdala nucleus of the periamygdaloid cortex (PAC) in both heroin abusers and MDD subjects.", "output": {"entities": {"gene": [{"text": "PDYN", "start": 23, "end": 27}], "disease": [{"text": "MDD", "start": 147, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDYN", "start": 23, "end": 27}, "tail": {"text": "MDD", "start": 147, "end": 150}}]}}, "schema": []}
{"input": "The effect of CXCR4 silencing on epithelial-mesenchymal transition related genes in glioma U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 91, "end": 94}], "disease": [{"text": "glioma", "start": 84, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Maspin showed a significantly increased expression in endometrial cancer samples compared with the control group and was up-regulated by a mean factor of 46. 54 (SE range, 2. 367-1160. 26; 95% confidence interval, 0. 515-15001, P < 0. 0001).", "output": {"entities": {"gene": [{"text": "Maspin", "start": 0, "end": 6}], "disease": [{"text": "endometrial cancer", "start": 54, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "p73 and p63 are new members of the p53 tumor suppressor family, which are becoming increasingly recognized as important players in human tumorigenesis.", "output": {"entities": {"gene": [{"text": "p63", "start": 8, "end": 11}], "disease": [{"text": "tumorigenesis", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "API2-MALT1 fusion and aneuploidy are common chromosomal abnormalities in MALT lymphoma.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 5, "end": 10}], "disease": [{"text": "aneuploidy", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We also confirmed the observations made with experimental mouse models: ESPL1-overexpressing luminal tumors showed complex genomic profiles and molecular features of chromosomal instability and loss of tumor suppressor genes (P53 and Rb).", "output": {"entities": {"gene": [{"text": "ESPL1", "start": 72, "end": 77}], "disease": [{"text": "chromosomal instability", "start": 166, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "To localize indoleamine 2, 3-dioxygenase (IDO) mRNA and protein and to undertake a functional study at the first trimester fetal-maternal interface in order to determine whether the distribution and function of IDO are related to recurrent spontaneous abortion (RSA).", "output": {"entities": {"gene": [{"text": "IDO", "start": 42, "end": 45}], "disease": [{"text": "spontaneous abortion", "start": 240, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we show that IL-1beta induces destruction of INS-1 insulinoma cells, while having no effect on a second insulinoma cell line RIN1046-38 and its engineered derivatives, and that this difference is correlated with a higher level of expression of manganese superoxide dismutase (MnSOD) in the latter cells.", "output": {"entities": {"gene": [{"text": "manganese superoxide dismutase", "start": 266, "end": 296}], "disease": [{"text": "insulinoma", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The leukemic fusion gene AML1-MDS1-EVI1 (AME) encodes a chimeric transcription factor that results from the t (3, 21) (q26; q22) translocation seen in patients with acute myeloid leukemia, with therapy-related myelodysplastic syndrome, or with chronic myeloid leukemia in blast crisis.", "output": {"entities": {"gene": [{"text": "AML1", "start": 25, "end": 29}], "disease": [{"text": "translocation", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Characterization of the t (14; 18) BCL2-IGH translocation in farmers occupationally exposed to pesticides.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 35, "end": 39}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We sought to investigate whether genetic variation in GSNOR is associated with childhood asthma and atopy.", "output": {"entities": {"gene": [{"text": "GSNOR", "start": 54, "end": 59}], "disease": [{"text": "atopy", "start": 100, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Positive association between EGFR mutation and age among never-smokers regardless of sex might indicate that EGFR mutation occurs cumulatively by unidentified internal/external factors other than smoking.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 29, "end": 33}], "disease": [{"text": "smoking", "start": 196, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Alterations in the CaR have been proposed to underlie the increases in Ca2 + set-point seen in primary hyperparathyroidism due to parathyroid adenoma.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 71, "end": 74}], "disease": [{"text": "adenoma", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Recently, alpha-synuclein (alpha-SYN) has been identified as the main component of Lewy bodies in sporadic PD, suggesting involvement in neurodegeneration via protein accumulation.", "output": {"entities": {"gene": [{"text": "SYN", "start": 33, "end": 36}], "disease": [{"text": "sporadic", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In addition, AML1 and CBFbeta are frequent targets for chromosomal translocation in human leukemia.", "output": {"entities": {"gene": [{"text": "AML1", "start": 13, "end": 17}], "disease": [{"text": "chromosomal translocation", "start": 55, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal analysis showed that As2O3 exposure caused chromosomal end-to-end fusion in human T-cell leukemia cells while downregulation of TRF2 was observed.", "output": {"entities": {"gene": [{"text": "TRF2", "start": 140, "end": 144}], "disease": [{"text": "human T-cell leukemia", "start": 88, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRF2", "start": 140, "end": 144}, "tail": {"text": "human T-cell leukemia", "start": 88, "end": 109}}]}}, "schema": []}
{"input": "Isolates of V. cholerae O1 from sporadic cases, on the other hand, appeared to be much more heterogeneous (five different REA patterns detected in the five isolates tested; Dice coefficient, 0. 31 to 0. 81) than those obtained during the two outbreaks.", "output": {"entities": {"gene": [{"text": "REA", "start": 122, "end": 125}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "This work demonstrates that JAK2 (V617F) is sufficient for polycythemia and fibrosis development and offers an in vivo model to assess novel therapeutic approaches for JAK2 (V617F)-positive pathologies.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 28, "end": 32}], "disease": [{"text": "fibrosis", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity.", "output": {"entities": {"gene": [{"text": "PLOD2", "start": 6, "end": 11}], "disease": [{"text": "BS", "start": 35, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLOD2", "start": 6, "end": 11}, "tail": {"text": "BS", "start": 35, "end": 37}}]}}, "schema": []}
{"input": "Our findings indicate that the activation of Notch1 is an important \" second hit \" for the transformation of E2A (-/-) T cell lymphomas and that Notch1 promotes survival through pre-TCR-dependent and-independent mechanisms.", "output": {"entities": {"gene": [{"text": "E2A", "start": 109, "end": 112}], "disease": [{"text": "hit", "start": 77, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Here, we report on, for the first time, a female patient with VACTERL association with a 21 base-pair deletion in the exon 1 triplet repeats of HOXD13, a sonic hedgehog (SHH) downstream target.", "output": {"entities": {"gene": [{"text": "HOXD13", "start": 144, "end": 150}], "disease": [{"text": "VACTERL association", "start": 62, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXD13", "start": 144, "end": 150}, "tail": {"text": "VACTERL association", "start": 62, "end": 81}}]}}, "schema": []}
{"input": "The purpose of this research was to test for association between polymorphisms in the circadian clock-related gene PERIOD2 (PER2) and attrition in patients prone to withdrawal from a behavioral weight-reduction program based on the Mediterranean diet.", "output": {"entities": {"gene": [{"text": "PER2", "start": 124, "end": 128}], "disease": [{"text": "weight", "start": 194, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Specific polymorphisms in the vitamin D receptor (VDR) gene have been associated with genetic susceptibility to inflammatory bowel disease (IBD) in different ethnic populations.", "output": {"entities": {"gene": [{"text": "VDR", "start": 50, "end": 53}], "disease": [{"text": "bowel disease", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In contrast, WIT002 or HET0016 decreased tumor volume, MVD, and spontaneous pulmonary metastasis occurrences.", "output": {"entities": {"gene": [{"text": "MVD", "start": 55, "end": 58}], "disease": [{"text": "pulmonary metastasis", "start": 76, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We found that S100A13 was expressed in melanocytic lesions; compared with benign nevi, S100A13 protein expression was significantly upregulated in melanomas (P = 0. 024), in which it correlated positively with the intensity of VEGF-A staining (P = 0. 041) and microvessel density (P = 0. 007).", "output": {"entities": {"gene": [{"text": "S100A13", "start": 14, "end": 21}], "disease": [{"text": "nevi", "start": 81, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Treatment of nude mice with anti-asialo GM (1) antibody temporally abrogated the growth retardation of AsPC-1/IL-21, but not AsPC-1/IL-23 tumors; however, the growth of AsPC-1/IL-21 tumors came to be retarded thereafter with the regeneration of natural killer (NK) cells.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 110, "end": 115}], "disease": [{"text": "growth retardation", "start": 81, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Regulation of anergy-related ubiquitin E3 ligase, GRAIL, in murine models of colitis and patients with Crohn' s disease.", "output": {"entities": {"gene": [{"text": "GRAIL", "start": 50, "end": 55}], "disease": [{"text": "colitis", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Transfection with the antagomir anti-miR-181a decreased VEGF protein by 27% in normoxia and 23% in hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 56, "end": 60}], "disease": [{"text": "hypoxia", "start": 99, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Soluble CD146 was measured by competitive enzyme-linked immunosorbent assay in synovial fluids of 3 healthy individuals and 7 cadavers (controls), as wells as in patients with traumatic joint injury (n = 10), osteoarthritis (OA; n = 10), psoriatic arthritis (PsA; n = 10), other non-RA polyarthritis (NRAP; n = 10), and RA (n = 31).", "output": {"entities": {"gene": [{"text": "NRAP", "start": 301, "end": 305}], "disease": [{"text": "polyarthritis", "start": 286, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Transfection of a sense TERE1 construct resulted in an 80-90% inhibition of cellular proliferation in two TCC cell lines and a lack of aneuploidy in the TERE1-transduced J82 cell line.", "output": {"entities": {"gene": [{"text": "TERE1", "start": 24, "end": 29}], "disease": [{"text": "aneuploidy", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Reduced SP4 and SP1 protein levels in the prefrontal cortex have been associated with bipolar disorder and schizophrenia, respectively, suggesting that both factors could be involved in the pathogenesis of disorders with psychotic features.", "output": {"entities": {"gene": [{"text": "SP1", "start": 16, "end": 19}], "disease": [{"text": "schizophrenia", "start": 107, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SP1", "start": 16, "end": 19}, "tail": {"text": "schizophrenia", "start": 107, "end": 120}}]}}, "schema": []}
{"input": "In mice injected with CB2-R targeted micelles, NER (plaque) can be best evaluated at 36-48 h post-injection.", "output": {"entities": {"gene": [{"text": "NER", "start": 47, "end": 50}], "disease": [{"text": "plaque", "start": 52, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We observed a family in which two boys were diagnosed with Alport syndrome, elliptocytosis, and mental retardation and carried a large deletion of the Xq22. 3-q23 region, encompassing the COL4A5 gene.", "output": {"entities": {"gene": [{"text": "COL4A5 gene", "start": 188, "end": 199}], "disease": [{"text": "elliptocytosis", "start": 76, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Significantly, depletion of JMJD2B impairs the estrogen-induced G (1)/S transition of the cell cycle in vitro and inhibits breast tumorigenesis in vivo.", "output": {"entities": {"gene": [{"text": "JMJD2B", "start": 28, "end": 34}], "disease": [{"text": "tumorigenesis", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "There was significant interaction in this association by BRAF mutation status (P =. 03): smoking was associated with shorter DFS in patients with BRAF wild-type (HR, 1. 36; 95% CI, 1. 11 to 1. 66) but not BRAF mutated (HR, 0. 80; 95% CI, 0. 50 to 1. 29) colon cancer.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 57, "end": 61}], "disease": [{"text": "smoking", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 0, "end": 6}], "disease": [{"text": "mulibrey nanism", "start": 20, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIM37", "start": 0, "end": 6}, "tail": {"text": "mulibrey nanism", "start": 20, "end": 35}}]}}, "schema": []}
{"input": "We analysed hepatic CB1 and CB2 mRNA expression, and the expression of genes involved in lipid metabolism in 72 MO women, subclassified by liver histology into MO with normal liver (NL, n = 16), simple steatosis (SS, n = 28), and nonalcoholic steatohepatitis (NASH, n = 28) by enzyme-linked immunosorbent assay and RT-PCR.", "output": {"entities": {"gene": [{"text": "CB2", "start": 28, "end": 31}], "disease": [{"text": "nonalcoholic steatohepatitis", "start": 230, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "HLA-A24-restricted and tumor-specific CTLs established from T cells infiltrating into lung adenocarcinoma recognized the two antigenic peptides encoded by a cyclophilin B gene, a family of genes for cyclophilins involved in T cell activation.", "output": {"entities": {"gene": [{"text": "cyclophilin B", "start": 157, "end": 170}], "disease": [{"text": "lung adenocarcinoma", "start": 86, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the overall expression of PPARG in EMC may be regulated in part by the balance between EWSR1/NR4A3 and NR4A3, and that PPARG may play a crucial role in the development of these tumours.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 114, "end": 119}], "disease": [{"text": "EMC", "start": 62, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EWSR1", "start": 114, "end": 119}, "tail": {"text": "EMC", "start": 62, "end": 65}}]}}, "schema": []}
{"input": "Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with \" tonotubular \" keratin.", "output": {"entities": {"gene": [{"text": "keratin 1", "start": 35, "end": 44}], "disease": [{"text": "epidermolytic palmoplantar keratoderma", "start": 52, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 1", "start": 35, "end": 44}, "tail": {"text": "epidermolytic palmoplantar keratoderma", "start": 52, "end": 90}}]}}, "schema": []}
{"input": "These results indicate that the smaller deletions contain the gene (s), most likely Rai1, causing craniofacial abnormalities and obesity.", "output": {"entities": {"gene": [{"text": "Rai1", "start": 84, "end": 88}], "disease": [{"text": "obesity", "start": 129, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rai1", "start": 84, "end": 88}, "tail": {"text": "obesity", "start": 129, "end": 136}}]}}, "schema": []}
{"input": "Eighteen (31%) advanced prostate cancers showed topoIIalpha overexpression; 12 (26%) showed TOP2A low-level amplification; 9 (16%) expressed HER2; and 6 (13%) showed HER2 low-level amplification.", "output": {"entities": {"gene": [{"text": "TOP2A", "start": 92, "end": 97}], "disease": [{"text": "prostate cancers", "start": 24, "end": 40}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TOP2A", "start": 92, "end": 97}, "tail": {"text": "prostate cancers", "start": 24, "end": 40}}]}}, "schema": []}
{"input": "Heterozygous PU. 1 mutations were reported in some patients with acute myeloid leukemia (AML), but not in AML with translocation t (8; 21), which gives rise to the fusion gene AML1-ETO.", "output": {"entities": {"gene": [{"text": "PU. 1", "start": 13, "end": 18}], "disease": [{"text": "translocation", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Human glioma U87 cells were used.", "output": {"entities": {"gene": [{"text": "U87", "start": 13, "end": 16}], "disease": [{"text": "glioma", "start": 6, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Taking into account that another metal ions transporter gene, SLC39A3, is associated to bipolar disorder, our findings reveal a role for brain metal homeostasis in psychosis.", "output": {"entities": {"gene": [{"text": "SLC39A3", "start": 62, "end": 69}], "disease": [{"text": "bipolar disorder", "start": 88, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC39A3", "start": 62, "end": 69}, "tail": {"text": "bipolar disorder", "start": 88, "end": 104}}]}}, "schema": []}
{"input": "DDX3 expression was investigated by immunohistochemistry in breast cancer in comparison with hypoxia related proteins HIF-1α, GLUT1, CAIX, EGFR, HER2, Akt1, FOXO4, p53, ERα, COMMD1, FER kinase, PIN1, E-cadherin, p21, p27, Transferrin receptor, FOXO3A, c-Met and Notch1.", "output": {"entities": {"gene": [{"text": "FOXO4", "start": 157, "end": 162}], "disease": [{"text": "breast cancer", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Comparison of clinical characteristics among narcolepsy with and without cataplexy and idiopathic hypersomnia without long sleep time, focusing on HLA-DRB1 (*) 1501/DQB1 (*) 0602 finding.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 147, "end": 155}], "disease": [{"text": "narcolepsy", "start": 45, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HLA-DRB1", "start": 147, "end": 155}, "tail": {"text": "narcolepsy", "start": 45, "end": 55}}]}}, "schema": []}
{"input": "Polymorphisms of serotonin transporter (5-HTT) and brain-derived neurotrophic factor (BDNF) have been investigated as candidate genes for post-stroke depression (PSD).", "output": {"entities": {"gene": [{"text": "PSD", "start": 162, "end": 165}], "disease": [{"text": "stroke", "start": 143, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "These data show a cross-talk between LPA and EGF limited to a branch of EGFR-mediated signaling, which may be explained by a LPA-induced, G (alphai)-protein-mediated translocation of PLCgamma-1 to EGFR in the absence of detectable tyrosine phosphorylation of both proteins.", "output": {"entities": {"gene": [{"text": "LPA", "start": 37, "end": 40}], "disease": [{"text": "translocation", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Importantly, the adult Progerin fish survived and remained fertile with relatively mild phenotypes only, but had shortened lifespan with obvious distortion of body shape.", "output": {"entities": {"gene": [{"text": "Progerin", "start": 23, "end": 31}], "disease": [{"text": "mild", "start": 83, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Transgenic models of insulin resistance (heterozygous insulin receptor substrate-1 knockout mice, A-ZIP/F-1 fatless mice, and animals overexpressing glutamine: fructose-6-phosphate amidotransferase) contained increased amounts of farnesylated p21Ras.", "output": {"entities": {"gene": [{"text": "ZIP", "start": 100, "end": 103}], "disease": [{"text": "insulin resistance", "start": 21, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In metastatic melanoma cell lines, PAF induced CREB and ATF-1 phosphorylation via a PAFR-mediated signal transduction mechanism that required pertussis toxin-insensitive Galphaq protein and adenylate cyclase activity and was antagonized by a cAMP-dependent protein kinase A and p38 MAPK inhibitors.", "output": {"entities": {"gene": [{"text": "CREB", "start": 47, "end": 51}], "disease": [{"text": "metastatic melanoma", "start": 3, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Here we show that expression of COX10 from a retroviral vector complements the COX deficiency in a patient with anemia and Leigh Syndrome, and in a patient with anemia, sensorineural deafness and fatal infantile hypertrophic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "COX10", "start": 32, "end": 37}], "disease": [{"text": "COX deficiency", "start": 79, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COX10", "start": 32, "end": 37}, "tail": {"text": "COX deficiency", "start": 79, "end": 93}}]}}, "schema": []}
{"input": "BPA is able to induce apoptosis in leukemia cells via caspase activation and involvement of both intrinsic and extrinsic pathways of apoptosis.", "output": {"entities": {"gene": [{"text": "BPA", "start": 0, "end": 3}], "disease": [{"text": "leukemia", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "ATX gene activity was significantly higher in undifferentiated anaplastic thyroid carcinoma cell lines (UTC) and tumor tissues as compared to follicular thyroid carcinoma (FTC) cell lines, FTC tissues or goiter tissues that were used as a control.", "output": {"entities": {"gene": [{"text": "ATX", "start": 0, "end": 3}], "disease": [{"text": "anaplastic thyroid carcinoma", "start": 63, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.", "output": {"entities": {"gene": [{"text": "SDHB", "start": 28, "end": 32}], "disease": [{"text": "mitochondrial complex II deficiency", "start": 79, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHB", "start": 28, "end": 32}, "tail": {"text": "mitochondrial complex II deficiency", "start": 79, "end": 114}}]}}, "schema": []}
{"input": "Promoter methylation of Reprimo was found in 79% of gastric cancers, 62% of gallbladder cancers, 57% of lymphomas, 56% of colorectal cancers, 40% of esophageal adenocarcinomas, 37% of breast cancers and 31% of leukemias.", "output": {"entities": {"gene": [{"text": "Reprimo", "start": 24, "end": 31}], "disease": [{"text": "leukemias", "start": 210, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Two non-responders with a fall in PA-APAs had very high CD8 levels.", "output": {"entities": {"gene": [{"text": "CD8", "start": 56, "end": 59}], "disease": [{"text": "fall", "start": 26, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Twelve normal skin specimens, 12 specimens of psoriasis, 21 specimens of bowenoid papulosis (BP), 16 specimens of Bowen' s disease (BD), 38 specimens of skin squamous cell carcinoma (SCC), and 11 specimens of basal cell carcinoma (BCC) were subjected to immunohistochemical staining for MCM5 and PCNA.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 296, "end": 300}], "disease": [{"text": "bowenoid papulosis", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, in multivariate analysis by Cox regression model, high NMHC IIA expression was confirmed to be an independent molecular marker (P = 0. 047), while grade (P = 0. 020) and clinical T stage (P = 0. 049) were also significant prognostic factors.", "output": {"entities": {"gene": [{"text": "NMHC IIA", "start": 68, "end": 76}], "disease": [{"text": "regression", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Fludarabine suppressed hypoxia-induced expression of VEGF and its receptor KDR.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 53, "end": 57}], "disease": [{"text": "hypoxia", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Apolipoprotein (APO) E genetic polymorphism plays an important role in lipid and lipoprotein metabolism, and has been shown to be associated with the risk of metabolic and cardio-cerebrovascular diseases and late-onset Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "APO", "start": 16, "end": 19}], "disease": [{"text": "cerebrovascular diseases", "start": 179, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Our finding confirms the report of SNRPB mutations in CCMS patients by Lynch et al.", "output": {"entities": {"gene": [{"text": "SNRPB", "start": 35, "end": 40}], "disease": [{"text": "CCMS", "start": 54, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SNRPB", "start": 35, "end": 40}, "tail": {"text": "CCMS", "start": 54, "end": 58}}]}}, "schema": []}
{"input": "Also, there was a significant association among decreased CD46 (+) cells with decreased CD4 (+) T cells, apoptosis mediator CD95 and increased CD8 (+) T cells that were protecting patients without emphysema or severe chronic obstructive pulmonary disease.", "output": {"entities": {"gene": [{"text": "CD4", "start": 58, "end": 61}], "disease": [{"text": "emphysema", "start": 197, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "A novel Golgi protein (GOLPH2)-regulated oncolytic adenovirus exhibits potent antitumor efficacy in hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "Golgi protein", "start": 8, "end": 21}], "disease": [{"text": "adenovirus", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "All individuals were evaluated for HFE mutations, complete blood count, coagulation, glucose, kidney function, liver function, viral hepatitis, C-reactive protein, interleukin 6, tumor necrosis factor α, and serum iron, ferritin, and transferrin saturation.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 144, "end": 162}], "disease": [{"text": "viral hepatitis", "start": 127, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "No abnormalities were found in the genes for Smad2, Smad3, Smad6, and Smad7.", "output": {"entities": {"gene": [{"text": "Smad6", "start": 59, "end": 64}], "disease": [{"text": "abnormalities", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Corticosteroid-binding globulin is a 383-amino acid glycoprotein that serves a hormone transport role and may have functions related to the stress response and inflammation.", "output": {"entities": {"gene": [{"text": "Corticosteroid-binding globulin", "start": 0, "end": 31}], "disease": [{"text": "inflammation", "start": 160, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Significant reductions in the biological activity of NODAL alleles are detected among patients with congenital heart defects (CHD), laterality anomalies (e. g.", "output": {"entities": {"gene": [{"text": "NODAL", "start": 53, "end": 58}], "disease": [{"text": "laterality", "start": 132, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We have examined a series of probands with EH in order to develop a catalog of mutations in keratin 10.", "output": {"entities": {"gene": [{"text": "keratin 10", "start": 92, "end": 102}], "disease": [{"text": "EH", "start": 43, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 10", "start": 92, "end": 102}, "tail": {"text": "EH", "start": 43, "end": 45}}]}}, "schema": []}
{"input": "The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple-helical domain of COL2A1.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 136, "end": 142}], "disease": [{"text": "height", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Cellular senescence-inhibited gene (CSIG) protein significantly prolongs the progression of replicative senescence, but its role in tumorigenesis is unclear.", "output": {"entities": {"gene": [{"text": "CSIG", "start": 36, "end": 40}], "disease": [{"text": "tumorigenesis", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "With slow-activity PON1 or PON192, urinary diethylphosphates (SigmaDEPs) were associated with lower birth weight and dimethylphosphates (SigmaDMPs) with shorter birth length.", "output": {"entities": {"gene": [{"text": "PON1", "start": 19, "end": 23}], "disease": [{"text": "birth weight", "start": 100, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PON1", "start": 19, "end": 23}, "tail": {"text": "birth weight", "start": 100, "end": 112}}]}}, "schema": []}
{"input": "The t (14; 18) translocation, found in most human follicular non-Hodgkin' s lymphomas (NHLs), juxtaposes the Bcl-2 oncogene at 18q21 with the immunoglobulin heavy chain locus at 14q32.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 109, "end": 114}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Nuclear factor-kappaB (NF-kappaB), a key transcription factor thought to play a major role in carcinogenesis, regulates many important signaling pathways involved in tumor promotion.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 23, "end": 32}], "disease": [{"text": "tumor promotion", "start": 166, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period.", "output": {"entities": {"gene": [{"text": "SRP", "start": 23, "end": 26}], "disease": [{"text": "malformations", "start": 232, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "The investigators constructed a recombinant adenovirus expressing human CD55 (AdCAGCD55).", "output": {"entities": {"gene": [{"text": "CD55", "start": 72, "end": 76}], "disease": [{"text": "adenovirus", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Myshkin mice (Myk/+) carry a heterozygous missense mutation in the neuronal Na (+), K (+)-ATPase & #945; 3 and model mania-related symptoms of bipolar disorder including increased activity, risk-taking behavior and reductions in sleep.", "output": {"entities": {"gene": [{"text": "ATPase", "start": 90, "end": 96}], "disease": [{"text": "mania", "start": 117, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATPase", "start": 90, "end": 96}, "tail": {"text": "mania", "start": 117, "end": 122}}]}}, "schema": []}
{"input": "MHC-class II gene analysis showed a significant increase of the HLA-DRB1 * 11 in the asthmatic patients compared with non-atopic controls (allele frequencies of 25. 6 vs 4. 4% P = 0. 0017, PC = 0. 02).", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 64, "end": 72}], "disease": [{"text": "atopic", "start": 122, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "In this study, whether miRNAs modulate tumorigenesis of gastric cancer cells through targeting MBP-1 was evaluated.", "output": {"entities": {"gene": [{"text": "MBP-1", "start": 95, "end": 100}], "disease": [{"text": "tumorigenesis", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "An increased risk of esophageal squamous-cell carcinoma was also associated with the FASL-844CC genotype (OR = 2. 06, 95% CI = 1. 64 to 2. 59; P <. 001) compared with the FASL-844CT or TT genotype.", "output": {"entities": {"gene": [{"text": "FASL", "start": 85, "end": 89}], "disease": [{"text": "esophageal", "start": 21, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The authors conducted a review and meta-analysis to evaluate the evidence for an association between F12-4C > T and 2 common thrombotic outcomes: venous thromboembolism and myocardial infarction, which are hypothesized to share some etiologic pathways.", "output": {"entities": {"gene": [{"text": "F12", "start": 101, "end": 104}], "disease": [{"text": "myocardial infarction", "start": 173, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "In this study, we studied the influence of omentin-1 on two types of human hepatocellular carcinoma cells: HepG2 and HuH-7 cells.", "output": {"entities": {"gene": [{"text": "omentin", "start": 43, "end": 50}], "disease": [{"text": "hepatocellular carcinoma", "start": 75, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "TSU-Pr1 and JCA-1 cells are derivatives of T24 bladder carcinoma cells and are not of prostatic origin.", "output": {"entities": {"gene": [{"text": "Pr1", "start": 4, "end": 7}], "disease": [{"text": "bladder carcinoma", "start": 47, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Although IL-1beta modulated the expression of various cytokines in cultured CECs, its absence in tear fluid and CIC samples suggests that IL-1beta does not play a modulatory role in moderate dry eye.", "output": {"entities": {"gene": [{"text": "CIC", "start": 112, "end": 115}], "disease": [{"text": "dry eye", "start": 191, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "BRCA1 deficiency exacerbates estrogen-induced DNA damage and genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "genomic instability", "start": 61, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that gene transfer technology into DCX-deficient glioblastoma cell lines, such as A172, U87, U251N, RG2, and 9L, with DCX cDNA significantly suppressed growth of these glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 102, "end": 105}], "disease": [{"text": "glioma", "start": 182, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "These data show that mutations in EZH2 cause Weaver syndrome.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 34, "end": 38}], "disease": [{"text": "Weaver syndrome", "start": 45, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EZH2", "start": 34, "end": 38}, "tail": {"text": "Weaver syndrome", "start": 45, "end": 60}}]}}, "schema": []}
{"input": "Decreased neutrophil adhesion to human cytomegalovirus-infected retinal pigment epithelial cells is mediated by virus-induced up-regulation of Fas ligand independent of neutrophil apoptosis.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 143, "end": 153}], "disease": [{"text": "adhesion", "start": 21, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.", "output": {"entities": {"gene": [{"text": "keratin 17", "start": 43, "end": 53}], "disease": [{"text": "pachyonychia congenita type 2", "start": 103, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 17", "start": 43, "end": 53}, "tail": {"text": "pachyonychia congenita type 2", "start": 103, "end": 132}}]}}, "schema": []}
{"input": "We therefore evidenced marked phenotypic differences in PCAF KO mice depending on the genetic background strain confirming that PCAF histone acetyltransferase is involved lifelong in the chromatin remodelling necessary for memory formation but differentially involved in anxiety and response to stress.", "output": {"entities": {"gene": [{"text": "PCAF", "start": 56, "end": 60}], "disease": [{"text": "anxiety", "start": 271, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "Our study aimed to investigate the association of 5-HTT gene polymorphism with different facets of aggression (BDHI) in females.", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 50, "end": 55}], "disease": [{"text": "aggression", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "CD4 (+), CD56 (+) DC2 malignancies constitute a novel disease entity, which has recently been shown to arise from a transformed lymphoid-related plasmacytoid dendritic cell (DC2).", "output": {"entities": {"gene": [{"text": "DC2", "start": 18, "end": 21}], "disease": [{"text": "malignancies", "start": 22, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "By using a pair of primers recognizing a 280-bp region within the 630-bp 5' PTI-1 sequence, reverse transcription-PCR detects PTI-1 expression in patient-derived prostate carcinomas but not in normal prostate or benign hypertrophic prostate tissue.", "output": {"entities": {"gene": [{"text": "PTI", "start": 76, "end": 79}], "disease": [{"text": "carcinomas", "start": 171, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "This, together with previously demonstrated inhibition of atlastin-1 of BMP pathway, further supports the role of this signaling cascade in axonal maintenance and axonal degeneration, which is seen in various types of HSP.", "output": {"entities": {"gene": [{"text": "atlastin", "start": 58, "end": 66}], "disease": [{"text": "axonal degeneration", "start": 163, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that expression levels of HATs, p300 and CBP [CREB (cAMP-response-element-binding protein)-binding protein] were decreased during chemical hepatocarcinogenesis, whereas expression of MOZ (monocytic leukaemia zinc-finger protein; MYST3)--a member of the MYST [MOZ, Ybf2/Sas3, Sas2 and TIP60 (Tat-interacting protein, 60 kDa)] acetyltransferase family--was induced.", "output": {"entities": {"gene": [{"text": "TIP60", "start": 305, "end": 310}], "disease": [{"text": "hepatocarcinogenesis", "start": 160, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 49, "end": 53}], "disease": [{"text": "central core disease", "start": 121, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 49, "end": 53}, "tail": {"text": "central core disease", "start": 121, "end": 141}}]}}, "schema": []}
{"input": "Negative or patchy staining (& lt; 50% cells) for CK7 and/or parvalbumin strongly favors the diagnosis of oncocytoma.", "output": {"entities": {"gene": [{"text": "parvalbumin", "start": 61, "end": 72}], "disease": [{"text": "oncocytoma", "start": 106, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "parvalbumin", "start": 61, "end": 72}, "tail": {"text": "oncocytoma", "start": 106, "end": 116}}]}}, "schema": []}
{"input": "In total 196 bladder cancer patients from the St.-Josefs-Hospital Dortmund-Hörde and 235 controls with benign urological diseases were assessed by questionnaire and genotyped for GSTM1, glutathione S-transferase T1 (GSTT1), and the N-acetyltransferase 2 (NAT2) tag SNP rs1495741.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 179, "end": 184}], "disease": [{"text": "urological diseases", "start": 110, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Sequencing of candidate genes LMNA, PPARG, AKT2, caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with familial partial lipodystrophy, revealed no genetic abnormalities, suggesting that this case may involve a novel gene.", "output": {"entities": {"gene": [{"text": "AKT2", "start": 43, "end": 47}], "disease": [{"text": "familial partial lipodystrophy", "start": 136, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKT2", "start": 43, "end": 47}, "tail": {"text": "familial partial lipodystrophy", "start": 136, "end": 166}}]}}, "schema": []}
{"input": "We analyzed the incidence of KRAS, BRAF and PIK3CA mutations, microsatellite instability (MSI) status and loss of the DNA repair proteins MLH1, MSH2, MSH6 and MGMT in a series of 89 SAC, 81 matched conventional carcinomas (CC) and 13 sporadic colorectal cancer showing histological and molecular features of high-level MSI (sMSI-H).", "output": {"entities": {"gene": [{"text": "MSH6", "start": 150, "end": 154}], "disease": [{"text": "sporadic", "start": 234, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "A novel promoter polymorphism in the human gene GNAS affects binding of transcription factor upstream stimulatory factor 1, Galphas protein expression and body weight regulation.", "output": {"entities": {"gene": [{"text": "upstream stimulatory factor 1", "start": 93, "end": 122}], "disease": [{"text": "body weight", "start": 155, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "In family ANA, candidate gene analysis excluded linkage to loci associated with aneurysm formation, including fibrillin-1, fibrillin-2, and type III procollagen, and chromosome 3p24. 2-p25.", "output": {"entities": {"gene": [{"text": "ANA", "start": 10, "end": 13}], "disease": [{"text": "aneurysm", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In eight cases with TCR delta deletion, however, a large number of polyclonal (presumably reactive) T cells were present and, in these lymphomas, the authors could not determine if TCR delta gene deletion occurred in the polyclonal T cells, the neoplastic cells, or both cell populations.", "output": {"entities": {"gene": [{"text": "TCR delta gene", "start": 181, "end": 195}], "disease": [{"text": "lymphomas", "start": 135, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "A significant association between the CYP2D6 genotype subgroup and the latency of chronic manganese poisoning was also found.", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 38, "end": 44}], "disease": [{"text": "manganese poisoning", "start": 90, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2D6", "start": 38, "end": 44}, "tail": {"text": "manganese poisoning", "start": 90, "end": 109}}]}}, "schema": []}
{"input": "It is associated with airway obstruction, increased airway hyper-responsiveness (AHR), and ongoing airway and lung inflammation dominated by CD8 lymphocytes and neutrophils.", "output": {"entities": {"gene": [{"text": "AHR", "start": 81, "end": 84}], "disease": [{"text": "airway obstruction", "start": 22, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Polyglutamine expansion in ATXN1 favours the formation of a particular protein complex containing RBM17, contributing to SCA1 neuropathology by means of a gain-of-function mechanism.", "output": {"entities": {"gene": [{"text": "RBM17", "start": 98, "end": 103}], "disease": [{"text": "SCA1", "start": 121, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RBM17", "start": 98, "end": 103}, "tail": {"text": "SCA1", "start": 121, "end": 125}}]}}, "schema": []}
{"input": "In 17 out of 25 adrenals, hyperplasia of adjacent ZG was observed with persistent expression of CYP11B2 that was extended to the entire ZG.", "output": {"entities": {"gene": [{"text": "CYP11B2", "start": 96, "end": 103}], "disease": [{"text": "hyperplasia", "start": 26, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Also, as telomerase production may be under the control of hTERT mRNA, the possibility is great that noncancerous liver tissue with chronic liver diseases acquires HCC when the hTERT mRNA is positive.", "output": {"entities": {"gene": [{"text": "HCC", "start": 164, "end": 167}], "disease": [{"text": "liver diseases", "start": 140, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "CA9 and CA12 mRNA levels were analyzed by semi-quantitative RT-PCR in comparison with VEGF as an indicator of hypoxia that uncouples the pVHL control.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 86, "end": 90}], "disease": [{"text": "hypoxia", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Seven of 12 HCC contained many microvessels intensely stained for GLUT 1, a phenomenon never observed in normal liver.", "output": {"entities": {"gene": [{"text": "GLUT 1", "start": 66, "end": 72}], "disease": [{"text": "HCC", "start": 12, "end": 15}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLUT 1", "start": 66, "end": 72}, "tail": {"text": "HCC", "start": 12, "end": 15}}]}}, "schema": []}
{"input": "These results suggest that reduced MTP activity is crucial to development of alcoholic fatty liver, while promotion of MTP activity by HGF might serve as a therapeutic measure against alcoholic liver steatosis.", "output": {"entities": {"gene": [{"text": "HGF", "start": 135, "end": 138}], "disease": [{"text": "alcoholic fatty liver", "start": 77, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Christensen, et al., Reducible poly (amido ethylenediamine) for hypoxia-inducible VEGF delivery, J Control Release, 118 (2), (2007) 254-261].", "output": {"entities": {"gene": [{"text": "VEGF", "start": 82, "end": 86}], "disease": [{"text": "hypoxia", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated the staining characteristics of PVNS/TGCT and reactive synovitides for CSF1 and CSF1R by in situ hybridization and immunohistochemistry on tissue microarrays and correlated these findings with the recently described translocation.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 99, "end": 103}], "disease": [{"text": "translocation", "start": 244, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "Sphingosylphosphorylcholine (SPC) is found at increased in the malignant ascites of tumor patients and induces perinuclear reorganization of keratin 8 (K8) filaments that contribute to the viscoelasticity of metastatic cancer cells.", "output": {"entities": {"gene": [{"text": "keratin 8", "start": 141, "end": 150}], "disease": [{"text": "malignant ascites", "start": 63, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In this study, the expression patterns of Dicer, Drosha, and Exportin 5 and the cell proliferation inhibition and apoptosis induced by silencing these genes in urothelial carcinoma of the bladder were determined.", "output": {"entities": {"gene": [{"text": "Exportin 5", "start": 61, "end": 71}], "disease": [{"text": "carcinoma of the bladder", "start": 171, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "VEGF 5'-flanking sequences mediated transcriptional activation of reporter gene expression in hypoxic Hep3B cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In tumor biopsy specimens from 32 HCV-positive NHL patients, bcl-2/IgH translocation was detected in 1 of 13 patients with MC syndrome (7. 7%) and 3 of 19 patients without MC syndrome (15. 8%).", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 61, "end": 66}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "An examination of the association between beta2 adrenergic receptor polymorphisms and multiple sclerosis.", "output": {"entities": {"gene": [{"text": "beta2", "start": 42, "end": 47}], "disease": [{"text": "multiple sclerosis", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Paraffin sections from pretreatment biopsies of 14 PCLBCLs of the head or trunk and nine PCLBCLs of the legs were investigated for expression of bcl-2 protein using immunohistochemistry, and for the presence of the 14; 18 translocation using polymerase chain reaction (PCR) amplification with primers against both the major breakpoint region (mbr) and the minor cluster region (mcr) of bcl-2.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 145, "end": 150}], "disease": [{"text": "translocation", "start": 222, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Conversely, rectal immunization with gD + CT elicited potent gD-specific cellular immune responses and protection against genital herpes infection through a MyD88-dependent manner.", "output": {"entities": {"gene": [{"text": "MyD88", "start": 157, "end": 162}], "disease": [{"text": "herpes infection", "start": 130, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "A rare case of a one-year-old child with Wilms' tumor, aniridia and glaucoma is described, in whom bone marrow chromosome analysis showed the presence of an interstitial microdeletion on the short arm of chromosome 11, presumably involving the p13 band.", "output": {"entities": {"gene": [{"text": "p13", "start": 244, "end": 247}], "disease": [{"text": "glaucoma", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Angiogenesis switch leads to the increased production of vascular endothelial growth factor (VEGF) following up-regulation of the hypoxia-inducible transcription factor.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 93, "end": 97}], "disease": [{"text": "hypoxia", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Despite the well-documented association between intra-amniotic infection/inflammation (IAI) and preterm birth, NGAL expression in the uterus has not previously been examined.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 111, "end": 115}], "disease": [{"text": "preterm birth", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In vivo, bG47Delta-dnFGFR was more efficacious than its nonexpressing parent bG47Delta-empty at inhibiting tumor growth and angiogenesis in both human U87 glioma and mouse 37-3-18-4 MPNST tumors in nude mice.", "output": {"entities": {"gene": [{"text": "U87", "start": 151, "end": 154}], "disease": [{"text": "glioma", "start": 155, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "While the implantation of a defibrillator appears warranted due to the inducibility at PES, the clinical follow-up provides indication that the class Ic agent propafenone could be effective to prevent episodes of paroxysmal atrial fibrillation.", "output": {"entities": {"gene": [{"text": "PES", "start": 87, "end": 90}], "disease": [{"text": "paroxysmal atrial fibrillation", "start": 213, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to examine the levels of adhesion molecules, high-sensitivity C-reactive protein (hs-CRP) and lipid spectrum of type 2 diabetic subjects with proven silent myocardial ischemia.", "output": {"entities": {"gene": [{"text": "CRP", "start": 110, "end": 113}], "disease": [{"text": "silent myocardial ischemia", "start": 174, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "However, the ratio between factor XI and C1-INA activity was significantly higher than in normal and urticaria patients.", "output": {"entities": {"gene": [{"text": "factor XI", "start": 27, "end": 36}], "disease": [{"text": "urticaria", "start": 101, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Heterogenous MSH6 loss is a result of microsatellite instability within MSH6 and occurs in sporadic and hereditary colorectal and endometrial carcinomas.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 13, "end": 17}], "disease": [{"text": "sporadic", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "On the basis of these results, we conclude that GADD45b may be increased in psychosis compensatory to its inability to access gene promoter regions.", "output": {"entities": {"gene": [{"text": "GADD45b", "start": 48, "end": 55}], "disease": [{"text": "psychosis", "start": 76, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GADD45b", "start": 48, "end": 55}, "tail": {"text": "psychosis", "start": 76, "end": 85}}]}}, "schema": []}
{"input": "This study did not suggest any relationship between GST variants and risks of glioma; the T1 null genotype may influence the susceptibility of meningioma, but larger studies are needed to substantiate this relationship.", "output": {"entities": {"gene": [{"text": "GST", "start": 52, "end": 55}], "disease": [{"text": "meningioma", "start": 143, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Treatment of IPF rats with adenoviral delivery of VEGF resulted in reduced endothelial apoptosis, increased vascularization, and improved PAP due to reduced remodeling but worsened PF.", "output": {"entities": {"gene": [{"text": "PAP", "start": 138, "end": 141}], "disease": [{"text": "vascularization", "start": 108, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Although the SUV for (18) F-FDG was significantly lower in endometrial hyperplasia than in carcinoma, a significant difference between high-risk and low-risk carcinoma was observed only in SUV for (18) F-FES.", "output": {"entities": {"gene": [{"text": "FES", "start": 204, "end": 207}], "disease": [{"text": "endometrial hyperplasia", "start": 59, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Wild-type rTMD23, but not rTMD23 (I425A), also markedly suppressed the PAR-1, the adhesion molecules expression, and the macrophage content in the carotid ligation model and ApoE-/-mice.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 71, "end": 76}], "disease": [{"text": "adhesion", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Here, we are providing an update on the molecular basis of ASLD by collecting all published (n & #160; = & #160; 67) as well as novel mutations (n & #160; = & #160; 67) of the ASL gene.", "output": {"entities": {"gene": [{"text": "ASL", "start": 59, "end": 62}], "disease": [{"text": "ASLD", "start": 59, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASL", "start": 59, "end": 62}, "tail": {"text": "ASLD", "start": 59, "end": 63}}]}}, "schema": []}
{"input": "Cox regression analysis did not demonstrate significant effects of any of the three genotypes on relapse to smoking: TPH1 (Reference AA; AC: hazard ratio (HR) 0. 99, 95% confidence interval (CI) 0. 78, 1. 24, p = 0. 90; CC: HR 0. 93, 95% CI 0. 73, 1. 18, p = 0. 55); 5-HTTLPR (Reference LL; SL: HR 1. 01, 95% CI 0. 85, 1. 20, p = 0. 90; SS: HR 1. 13, 95% CI 0. 91, 1. 39, p = 0. 27); HTR1A (Reference CC; CG: HR 1. 04, 95% CI 0. 86, 1. 25, p = 0. 70; GG: HR 1. 01, 95% CI 0. 82, 1. 24, p = 0. 93).", "output": {"entities": {"gene": [{"text": "TPH1", "start": 117, "end": 121}], "disease": [{"text": "smoking", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 48, "end": 53}], "disease": [{"text": "epidermal nevi", "start": 67, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 48, "end": 53}, "tail": {"text": "epidermal nevi", "start": 67, "end": 81}}]}}, "schema": []}
{"input": "SKY confirmed 10 and refined the interpretation of three balanced aberrations recognized by G-banding and identified another nine balanced aberrations, including a novel translocation involving the RUNX1 gene.", "output": {"entities": {"gene": [{"text": "RUNX1 gene", "start": 198, "end": 208}], "disease": [{"text": "translocation", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "We recently discovered that pheochromocytomas developing in rats affected by the MENX (multiple endocrine neoplasia-like) syndrome express at very high-level Sctr, encoding SR. We here report that SR are also highly abundant on the membranes of rat adrenal and extraadrenal pheochromocytoma, starting from early stages of tumor development, and are functional.", "output": {"entities": {"gene": [{"text": "Sctr", "start": 158, "end": 162}], "disease": [{"text": "multiple endocrine neoplasia", "start": 87, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.", "output": {"entities": {"gene": [{"text": "PSD-93", "start": 198, "end": 204}], "disease": [{"text": "bipolar disorder", "start": 85, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD-93", "start": 198, "end": 204}, "tail": {"text": "bipolar disorder", "start": 85, "end": 101}}]}}, "schema": []}
{"input": "Induction of VEGF expression might indicate relative hypoxia of the specimen due to insufficient vascularization.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 13, "end": 17}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Thus, even important for cardiac development, germline mutations in NKX2. 5 are rare in patients with sporadic CHD and genetic and/or pathophysiologic heterogeneity is likely for sporadic forms of CHD.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 68, "end": 75}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the RNA-and DNA-binding proteins, fused in sarcoma (FUS) and transactive response DNA-binding protein 43 kDa (TDP-43), are responsible for 5-10% of familial and 1% of sporadic ALS cases.", "output": {"entities": {"gene": [{"text": "FUS", "start": 65, "end": 68}], "disease": [{"text": "sporadic", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "As similar truncated RUNX1 proteins are generated by genetic aberrations including chromosomal translocations and point mutations, we used the t (1; 21) (p32; q22) chromosomal translocation as a model to explore whether C-terminally truncated RUNX1 proteins trigger effects similar to those induced by well-characterized leukemogenic RUNX1 fusion genes.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 21, "end": 26}], "disease": [{"text": "chromosomal translocation", "start": 83, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The VEGF (+) tumors contained large avascular cavities at days 11 and 21, which were replaced by basement membrane-lined channels at day 30.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 4, "end": 8}], "disease": [{"text": "cavities", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "These results implied that nucleostemin may play an important role in both tumorigenesis and transforming human embryonic bone marrow mesenchymal stem cells into F6 tumor cells.", "output": {"entities": {"gene": [{"text": "nucleostemin", "start": 27, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Both SAMP lyase and LSA are very good early indicators of hepatic tumor with SAMP lyase an earlier indicator of breast tumor than LSA.", "output": {"entities": {"gene": [{"text": "SAMP", "start": 5, "end": 9}], "disease": [{"text": "breast tumor", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "These results implicate anandamide and vascular CB1 receptors in the vasodilated state in advanced cirrhosis and indicate a novel approach for its management.", "output": {"entities": {"gene": [{"text": "CB1", "start": 48, "end": 51}], "disease": [{"text": "cirrhosis", "start": 99, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB1", "start": 48, "end": 51}, "tail": {"text": "cirrhosis", "start": 99, "end": 108}}]}}, "schema": []}
{"input": "In human leukemias, the RUNX1 gene is involved in various chromosomal translocation events that create oncogenic fusion proteins, at least some of which appear to function as dominant-negative inhibitors of the normal gene product.", "output": {"entities": {"gene": [{"text": "RUNX1 gene", "start": 24, "end": 34}], "disease": [{"text": "chromosomal translocation", "start": 58, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "PTEN (phosphatase and tensin homologue, deleted on chromosome 10) is a tumor suppressor with dual phosphatase activity and mutations of its gene, PTEN, have been associated with many sporadic cancers and heritable neoplasia syndromes, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.", "output": {"entities": {"gene": [{"text": "tensin", "start": 22, "end": 28}], "disease": [{"text": "sporadic", "start": 183, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Immunoprecipitation and immunoblot results showed that PP2 and MK801 significantly decreased the activation of Src, HPK1, MLK3, JNK3 and c-Jun, respectively, during ischemia/reperfusion.", "output": {"entities": {"gene": [{"text": "JNK3", "start": 128, "end": 132}], "disease": [{"text": "ischemia", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "While VEGF' s potential as a protective factor has been demonstrated in hypoxia-ischemia, in vitro excitotoxicity, and motor neuron degeneration, its role in seizure-induced cell loss has received little attention.", "output": {"entities": {"gene": [{"text": "VEGF' s", "start": 6, "end": 13}], "disease": [{"text": "hypoxia", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We identified two previously unrecognized JAK2 mutations and three previously unrecognized MPL mutations in JAK2 V617F-negative PV, erythrocytosis, and IMF patients.", "output": {"entities": {"gene": [{"text": "MPL", "start": 91, "end": 94}], "disease": [{"text": "erythrocytosis", "start": 132, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Ratios of 17. 5-/22-kDa GH1 transcripts in CLs from family members with the same IGHD II mutation correlated with differences in their height SD scores.", "output": {"entities": {"gene": [{"text": "GH1", "start": 24, "end": 27}], "disease": [{"text": "height", "start": 135, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Reflecting therapy standards, we applied in our in vitro model fractionated RT with a single dose of 2Gy and clinically relevant concentrations of CT. Not only the impact of RT and/or CT with TMZ and/or VPA on the clonogenic potential and cell cycle of the glioblastoma cell lines T98G, U251MG, and U87MG was analyzed, but also the resulting cell death forms and release of danger signals such as heat-shock protein70 (Hsp70) and high-mobility group protein B1 (HMGB1).", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 462, "end": 467}], "disease": [{"text": "shock", "start": 402, "end": 407}]}, "relations": {}}, "schema": []}
{"input": "Thus, mutations in the H3K36 trimethyltransferase SETD2 have been reported as a potential cause of MSI.", "output": {"entities": {"gene": [{"text": "SETD2", "start": 50, "end": 55}], "disease": [{"text": "MSI", "start": 99, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SETD2", "start": 50, "end": 55}, "tail": {"text": "MSI", "start": 99, "end": 102}}]}}, "schema": []}
{"input": "High GCS expression was significantly associated with poor differentiation (P = 0. 01), lymph node metastasis (P = 0. 004), recurrence/distant metastasis (P = 0. 006), and chemotherapy resistance (P = 0. 025).", "output": {"entities": {"gene": [{"text": "GCS", "start": 5, "end": 8}], "disease": [{"text": "lymph node metastasis", "start": 88, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Our data show that BDNF probably facilitates the tumorigenesis of lung SCC and ADC.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 19, "end": 23}], "disease": [{"text": "tumorigenesis", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We assessed the impact of LGI1 microrearrangements in a collection of ADLTE families and sporadic lateral temporal epilepsy (LTE) patients, and investigated novel ADLTE and LTE patients.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 26, "end": 30}], "disease": [{"text": "sporadic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "After adjusting age, gender, alcohol drinking, smoking, education, history of diabetes mellitus and primary hypertension, the analysis showed: (1) the ACT AT and TT genotypes increased the risk of cerebral hemorrhage (OR = 2. 33 and 2. 17 respectively, P < 0. 05), but were not associated with primary hypertension.", "output": {"entities": {"gene": [{"text": "ACT", "start": 151, "end": 154}], "disease": [{"text": "primary hypertension", "start": 100, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The same cortical areas displayed concomitant up-regulation of several glutamate and GABA (A) receptor subunits, of which GABA (A) alpha1 and GABA (A) beta3 showed selectivity for individuals who had died by suicide, indicating their potential utility as biomarkers of suicidality.", "output": {"entities": {"gene": [{"text": "beta3", "start": 151, "end": 156}], "disease": [{"text": "suicide", "start": 208, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Storage of RBC at-20 degrees C for 6 weeks resulted in significant reductions in highly unsaturated fatty acid levels in polar lipids of patients with regressive autism, compared to patients with classical autism or ASP, or controls.", "output": {"entities": {"gene": [{"text": "ASP", "start": 216, "end": 219}], "disease": [{"text": "autism", "start": 162, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that endogenous tPA plays an important role in heparin-produced cerebral hemorrhage via MMP9 induction and activation.", "output": {"entities": {"gene": [{"text": "tPA", "start": 37, "end": 40}], "disease": [{"text": "cerebral hemorrhage", "start": 85, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tPA", "start": 37, "end": 40}, "tail": {"text": "cerebral hemorrhage", "start": 85, "end": 104}}]}}, "schema": []}
{"input": "These results show that local factors, such as hypoxia, can regulate VEGF expression in the endometrium.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 69, "end": 73}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Pretreatment with diazepam blocked the seizures as well as the elevation of BDNF mRNA.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 76, "end": 80}], "disease": [{"text": "seizures", "start": 39, "end": 47}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "BDNF", "start": 76, "end": 80}, "tail": {"text": "seizures", "start": 39, "end": 47}}]}}, "schema": []}
{"input": "Therefore, targeting the TLR3 pathway may be a promising approach to preventing pathologic angiogenesis in RA.", "output": {"entities": {"gene": [{"text": "TLR3", "start": 25, "end": 29}], "disease": [{"text": "pathologic angiogenesis", "start": 80, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We genotyped the SLC22A4 and SLC22A5 variants and other polymorphisms across the risk haplotype in four populations of European origin, and applied regression-based haplotype analysis to over 1, 200 fully genotyped case-control pairs, modeling case/control status on the presence of one or more SNPs to test for conditional association and to identify risk haplotypes.", "output": {"entities": {"gene": [{"text": "SLC22A5", "start": 29, "end": 36}], "disease": [{"text": "regression", "start": 148, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "We found that FOXM1 was expressed in all of the melanoma cell lines, and was expressed in 49% of primary melanomas, 67% of metastatic melanomas and 10% of nevi by performing immunohistochemical staining.", "output": {"entities": {"gene": [{"text": "FOXM1", "start": 14, "end": 19}], "disease": [{"text": "nevi", "start": 155, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Media from hypoxic RPE cells was used to grow human umbilical vein endothelial cells (HUVECs).", "output": {"entities": {"gene": [{"text": "RPE", "start": 19, "end": 22}], "disease": [{"text": "hypoxic", "start": 11, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that the expression of STIM1 mRNA was significantly higher in human lung tumors than that in adjacent non-neoplastic lung tissues.", "output": {"entities": {"gene": [{"text": "STIM1", "start": 42, "end": 47}], "disease": [{"text": "lung tumors", "start": 87, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STIM1", "start": 42, "end": 47}, "tail": {"text": "lung tumors", "start": 87, "end": 98}}]}}, "schema": []}
{"input": "Among cases, promoter methylation of miR-137 was associated with female gender (OR = 5. 30, 95% CI: 1. 20-23. 44) and inversely associated with body mass index (BMI) (OR = 0. 88, 95% CI: 0. 77-0. 99).", "output": {"entities": {"gene": [{"text": "miR-137", "start": 37, "end": 44}], "disease": [{"text": "body mass index", "start": 144, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "RT-PCR and Western blot analyses of blast cell protein lysates suggest that approximately 50% of BII leukemias overexpress Ikaros 6 RNA and protein.", "output": {"entities": {"gene": [{"text": "BII", "start": 97, "end": 100}], "disease": [{"text": "leukemias", "start": 101, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Bcl-XL is an important antiapoptotic member of the Bcl-2 family and is overexpressed in several solid tumours, including mesothelioma.", "output": {"entities": {"gene": [{"text": "Bcl-XL", "start": 0, "end": 6}], "disease": [{"text": "mesothelioma", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Lentivirus mediated shRNA interference targeting MAT2B induces growth-inhibition and apoptosis in hepatocelluar carcinoma.", "output": {"entities": {"gene": [{"text": "MAT2B", "start": 49, "end": 54}], "disease": [{"text": "carcinoma", "start": 112, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Thus, production of the TEL/AML1 protein by translocation of human chromosome 12; 21 may contribute to leukemogenesis by the specific inhibition of AML1-dependent activation of myeloid promoters.", "output": {"entities": {"gene": [{"text": "AML1", "start": 28, "end": 32}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Glo1 is linked to healthy aging, obesity, diabetes and diabetic complications, chronic renal disease, cardiovascular disease, other disorders and multidrug resistance in cancer chemotherapy.", "output": {"entities": {"gene": [{"text": "Glo1", "start": 0, "end": 4}], "disease": [{"text": "cardiovascular disease", "start": 102, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We here report on eight patients from six independent families showing that mutations in the OPA1 gene can also be responsible for a syndromic form of DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external ophthalmoplegia and mitochondrial myopathy with cytochrome c oxidase negative and Ragged Red Fibres.", "output": {"entities": {"gene": [{"text": "OPA1 gene", "start": 93, "end": 102}], "disease": [{"text": "motor polyneuropathy", "start": 218, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Deletion of FHL2 protein by FHL2 small interfering RNA impaired VEGF production under hypoxia conditions, and also suppressed endothelial progenitor cell angiogenic functions, but these effects could be recovered by administration of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 64, "end": 68}], "disease": [{"text": "hypoxia", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia-selectivity of TPZ was also demonstrated by preferential downregulation of several important hypoxia-induced markers (HIF-1α, CA IX and VEGF) under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 144, "end": 148}], "disease": [{"text": "hypoxia", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Two members of a family who showed intrauterine and postnatal growth retardation, with increased serum IGF-I levels, demonstrated a substitution of arginine for glutamine at 481 (R481Q) in the IGF-IR.", "output": {"entities": {"gene": [{"text": "IGF", "start": 103, "end": 106}], "disease": [{"text": "postnatal growth retardation", "start": 52, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD.", "output": {"entities": {"gene": [{"text": "alpha-Gal A", "start": 138, "end": 149}], "disease": [{"text": "FD", "start": 212, "end": 214}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-Gal A", "start": 138, "end": 149}, "tail": {"text": "FD", "start": 212, "end": 214}}]}}, "schema": []}
{"input": "Hereditary nonpolyposis colorectal cancer (HNPCC) (Amsterdam criteria) is often caused by mutations in mismatch repair (MMR) genes, and tumors of patients with HNPCC show microsatellite instability (MSI-high phenotype).", "output": {"entities": {"gene": [{"text": "MMR", "start": 120, "end": 123}], "disease": [{"text": "microsatellite instability", "start": 171, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Histological analysis of 143 endarterectomized human carotid atherosclerotic plaques revealed that ATG16L1 was expressed in areas surrounding the necrotic core and the shoulder regions.", "output": {"entities": {"gene": [{"text": "ATG16L1", "start": 99, "end": 106}], "disease": [{"text": "necrotic", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6 and 8 months provides further confirmation that this gene is not specifically associated with BFNIS and is also involved in families with a delayed age of onset.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 30, "end": 35}], "disease": [{"text": "BFNIS", "start": 196, "end": 201}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN2A", "start": 30, "end": 35}, "tail": {"text": "BFNIS", "start": 196, "end": 201}}]}}, "schema": []}
{"input": "The IL23/IL17 pathway is pivotal in the development of chronic mucosal inflammation seen in Crohn' s disease (CD).", "output": {"entities": {"gene": [{"text": "IL17", "start": 9, "end": 13}], "disease": [{"text": "mucosal inflammation", "start": 63, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the oncogene rearrangements involving BCL2 and MYC in the leukemia cells of a patient with an aggressive prolymphocytic leukemia that had an abnormal karyotype including a t (14; 18) translocation and a chromosome 17q +.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 55, "end": 59}], "disease": [{"text": "translocation", "start": 200, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Gene-targeted HSL-deficient (HSL-/-) male mice are infertile, have a 2-fold reduction in testicular mass, a 2-fold elevation of the ratio of esterified to free cholesterol in testis, and unique morphological abnormalities in round and elongating spermatids.", "output": {"entities": {"gene": [{"text": "HSL", "start": 14, "end": 17}], "disease": [{"text": "infertile", "start": 51, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Here, we identify homozygous nonsense and missense mutations in the orphan gene C20orf72 in three families with a mitochondrial syndrome characterized by external ophthalmoplegia, emaciation and respiratory failure.", "output": {"entities": {"gene": [{"text": "C20orf72", "start": 80, "end": 88}], "disease": [{"text": "ophthalmoplegia", "start": 163, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C20orf72", "start": 80, "end": 88}, "tail": {"text": "ophthalmoplegia", "start": 163, "end": 178}}]}}, "schema": []}
{"input": "A de novo missense mutation (Arg359Trp) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS.", "output": {"entities": {"gene": [{"text": "EGR2", "start": 98, "end": 102}], "disease": [{"text": "DSS", "start": 204, "end": 207}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EGR2", "start": 98, "end": 102}, "tail": {"text": "DSS", "start": 204, "end": 207}}]}}, "schema": []}
{"input": "Local infusion of DKK1 in rats caused neuronal cell death and astrocytosis in the CA1 region of the hippocampus and death of cholinergic neurons in the nucleus basalis magnocellularis.", "output": {"entities": {"gene": [{"text": "CA1", "start": 82, "end": 85}], "disease": [{"text": "astrocytosis", "start": 62, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Alternatively, PKC-eta translocation to the p/c fraction was induced slowly, taking more than 5 min, and was reduced to approximately half-maximum at 30 min, whereas PKC-zeta translocation reached a maximum at 30 s, rapidly returning to baseline by 5 min after PV-IgG stimulation.", "output": {"entities": {"gene": [{"text": "PKC-zeta", "start": 166, "end": 174}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The purpose of the present study was to determine whether TMP influences the migratory ability of a human ovarian carcinoma cell line (SKOV3) via regulation of IL-8 expression in vitro.", "output": {"entities": {"gene": [{"text": "TMP", "start": 58, "end": 61}], "disease": [{"text": "ovarian carcinoma", "start": 106, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Epidermal growth factor receptor inhibition promotes desmosome assembly and strengthens intercellular adhesion in squamous cell carcinoma cells.", "output": {"entities": {"gene": [{"text": "Epidermal growth factor receptor", "start": 0, "end": 32}], "disease": [{"text": "adhesion", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Further experiments demonstrated strongly reduced adhesion of colony-forming cells from ICSBP (-/-) bone marrow to fibronectin.", "output": {"entities": {"gene": [{"text": "ICSBP", "start": 88, "end": 93}], "disease": [{"text": "adhesion", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.", "output": {"entities": {"gene": [{"text": "WDR11", "start": 0, "end": 5}], "disease": [{"text": "Kallmann syndrome", "start": 126, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WDR11", "start": 0, "end": 5}, "tail": {"text": "Kallmann syndrome", "start": 126, "end": 143}}]}}, "schema": []}
{"input": "The aim of the study was to define the genetic defect in a new case of bilateral PHEO and multiple PGLs associated with congenital polycythemia.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 99, "end": 103}], "disease": [{"text": "polycythemia", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Moreover, NGAL is required for BCR-ABL-induced tumorigenesis.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 10, "end": 14}], "disease": [{"text": "tumorigenesis", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Family-based transmission disequilibrium test (TDT) and case-control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences.", "output": {"entities": {"gene": [{"text": "TDT", "start": 47, "end": 50}], "disease": [{"text": "respiratory distress syndrome", "start": 151, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Here we show that mutations in the transforming growth factor-& #946; (TGF-& #946;) ligand Growth Differentiation Factor 6, which specifies the dorso-ventral retinal axis, contribute to Leber congenital amaurosis.", "output": {"entities": {"gene": [{"text": "Growth Differentiation Factor 6", "start": 91, "end": 122}], "disease": [{"text": "Leber congenital amaurosis", "start": 186, "end": 212}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Growth Differentiation Factor 6", "start": 91, "end": 122}, "tail": {"text": "Leber congenital amaurosis", "start": 186, "end": 212}}]}}, "schema": []}
{"input": "Point mutations in the RUNX1/AML1 gene are also observed in specific subtypes of AML, in addition to RUNX1 being the most frequent target for chromosomal translocation in AML.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 23, "end": 28}], "disease": [{"text": "chromosomal translocation", "start": 142, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The role of Reg IV gene and its encoding product in gastric carcinogenesis.", "output": {"entities": {"gene": [{"text": "IV gene", "start": 16, "end": 23}], "disease": [{"text": "carcinogenesis", "start": 60, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The CARD15 2936insC mutation and TLR4 896 A > G polymorphism in African Americans and risk of preterm premature rupture of membranes (PPROM).", "output": {"entities": {"gene": [{"text": "CARD15", "start": 4, "end": 10}], "disease": [{"text": "preterm premature rupture of membranes", "start": 94, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Necrotizing fasciitis (NF) is a rapidly progressive, life-threatening soft-tissue infection that is traditionally caused by group A Streptococcus (GAS) or mixed aerobic/anaerobic bacteria.", "output": {"entities": {"gene": [{"text": "GAS", "start": 147, "end": 150}], "disease": [{"text": "rapidly progressive", "start": 32, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Vacuolar protein sorting 4B (VPS4B), a member of ATPase family proteins, reportedly possesses multiple biological functions, such as regulating the development of breast cancer and non-small-cell lung cancer, participating in Parkinson' s disease, and modulating neuronal apoptosis after cerebral ischemia.", "output": {"entities": {"gene": [{"text": "VPS4B", "start": 29, "end": 34}], "disease": [{"text": "lung cancer", "start": 196, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Role of xanthine oxidase activation and reduced glutathione depletion in rhinovirus induction of inflammation in respiratory epithelial cells.", "output": {"entities": {"gene": [{"text": "xanthine oxidase", "start": 8, "end": 24}], "disease": [{"text": "inflammation", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that HCN1 protein could be a potential target for treatment of anxiety and depression disorders.", "output": {"entities": {"gene": [{"text": "HCN1", "start": 25, "end": 29}], "disease": [{"text": "depression", "start": 95, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HCN1", "start": 25, "end": 29}, "tail": {"text": "depression", "start": 95, "end": 105}}]}}, "schema": []}
{"input": "In vivo, changes observed in p66 +/+ mice after 6-week exposure to ethanol in the drinking water, including elevated serum alanine aminotransferase (ALT), liver swelling and evident liver steatosis, were significantly attenuated in p66-/-mutant mice.", "output": {"entities": {"gene": [{"text": "p66", "start": 29, "end": 32}], "disease": [{"text": "liver steatosis", "start": 182, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of MDM2, p53, and NCAM proteins in human radiation-induced skin ulcers.", "output": {"entities": {"gene": [{"text": "p53", "start": 24, "end": 27}], "disease": [{"text": "skin ulcers", "start": 74, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that liposomal delivery of HSP72 inhibits ischemia-induced renal tubular cell apoptosis by preventing NF-kappaB activation and subsequent TNF-alpha production.", "output": {"entities": {"gene": [{"text": "HSP72", "start": 50, "end": 55}], "disease": [{"text": "ischemia", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Eighty-four patients (all but 2 followed up for 8. 8 +/-5. 7 years) with ASP (57 with adrenal tumors, 27 with extra-adrenal, multiple, malignant, or recurrent tumors) were screened for the major susceptibility genes for phaeochromocytoma (RET, VHL, SDHD, and SDHB).", "output": {"entities": {"gene": [{"text": "VHL", "start": 244, "end": 247}], "disease": [{"text": "phaeochromocytoma", "start": 220, "end": 237}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VHL", "start": 244, "end": 247}, "tail": {"text": "phaeochromocytoma", "start": 220, "end": 237}}]}}, "schema": []}
{"input": "Primary epithelioid sarcoma of bone: report of a unique case, with immunohistochemical and fluorescent in situ hybridization confirmation of INI1 deletion.", "output": {"entities": {"gene": [{"text": "INI1", "start": 141, "end": 145}], "disease": [{"text": "sarcoma of bone", "start": 20, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "MRI is specifically not recommended for screening women at average risk for breast cancer.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "breast cancer", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In invasive breast cancer, expression of DDX3 was correlated with overexpression of HIF-1α and many other hypoxia related proteins, pointing to a distinct role for DDX3 under hypoxic conditions and supporting the oncogenic role of DDX3 which could have clinical implication for current development of DDX3 inhibitors.", "output": {"entities": {"gene": [{"text": "DDX3", "start": 41, "end": 45}], "disease": [{"text": "hypoxic", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, this aberrant splicing of PS2 was also observed in the brains of bipolar disorder and schizophrenia.", "output": {"entities": {"gene": [{"text": "PS2", "start": 41, "end": 44}], "disease": [{"text": "bipolar disorder", "start": 80, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PS2", "start": 41, "end": 44}, "tail": {"text": "bipolar disorder", "start": 80, "end": 96}}]}}, "schema": []}
{"input": "According to the grade of endometrial cancer cell differentiation, H19 showed increased frequency and level of expression in the epithelium from well to moderately and poorly differentiated tissues.", "output": {"entities": {"gene": [{"text": "H19", "start": 67, "end": 70}], "disease": [{"text": "endometrial cancer", "start": 26, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.", "output": {"entities": {"gene": [{"text": "MAX", "start": 0, "end": 3}], "disease": [{"text": "pheochromocytoma", "start": 44, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAX", "start": 0, "end": 3}, "tail": {"text": "pheochromocytoma", "start": 44, "end": 60}}]}}, "schema": []}
{"input": "When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN-Lom (MIM 601455), HMSN-Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168).", "output": {"entities": {"gene": [{"text": "MIM", "start": 168, "end": 171}], "disease": [{"text": "facial dysmorphism", "start": 234, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 124, "end": 129}], "disease": [{"text": "major depression", "start": 75, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR1", "start": 124, "end": 129}, "tail": {"text": "major depression", "start": 75, "end": 91}}]}}, "schema": []}
{"input": "After serum shock, both types of cells showed clear circadian expressions of Bmal1, Cry1, Cry2, Per1, Per2, Per3 and Rev-erbα mRNA; meanwhile the Clock mRNA show a rhythmic expression in plaque-derived SMCs but not in normal carotid VSMCs.", "output": {"entities": {"gene": [{"text": "Cry1", "start": 84, "end": 88}], "disease": [{"text": "plaque", "start": 187, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "This is the first deletion event observed in a GNE allele and expands the molecular pathogenesis of autosomal-recessive h-IBM.", "output": {"entities": {"gene": [{"text": "GNE", "start": 47, "end": 50}], "disease": [{"text": "h-IBM", "start": 120, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNE", "start": 47, "end": 50}, "tail": {"text": "h-IBM", "start": 120, "end": 125}}]}}, "schema": []}
{"input": "Together, our data suggest that Bmi-1 plays an important role in glioma angiogenesis and therefore could represent a potential target for anti-angiogenic therapy against the disease.", "output": {"entities": {"gene": [{"text": "Bmi-1", "start": 32, "end": 37}], "disease": [{"text": "glioma", "start": 65, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bmi-1", "start": 32, "end": 37}, "tail": {"text": "glioma", "start": 65, "end": 71}}]}}, "schema": []}
{"input": "By analyzing the clinical data of our patients along with those recently described in the literature, we confirm that there is a common, recognizable phenotype associated with MED13L haploinsufficiency, which includes intellectual disability and a distinctive facial appearance.", "output": {"entities": {"gene": [{"text": "MED13L", "start": 176, "end": 182}], "disease": [{"text": "facial appearance", "start": 260, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that NT may interact with the mu-opioid receptors at the LC, resulting in the suppression of fentanyl-induced muscular rigidity in the rat.", "output": {"entities": {"gene": [{"text": "NT", "start": 27, "end": 29}], "disease": [{"text": "muscular rigidity", "start": 132, "end": 149}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NT", "start": 27, "end": 29}, "tail": {"text": "muscular rigidity", "start": 132, "end": 149}}]}}, "schema": []}
{"input": "Thus, based on its likely involvement as a TSG in neuroblastomas, gliomas, and many common adult tumors, CHD5 may play an important developmental role in many other tissues besides the nervous system and testis.", "output": {"entities": {"gene": [{"text": "TSG", "start": 43, "end": 46}], "disease": [{"text": "nervous system", "start": 185, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Variants of the DRD2 gene have also been associated with cocaine, nicotine and opioid dependence, obesity and gambling.", "output": {"entities": {"gene": [{"text": "DRD2 gene", "start": 16, "end": 25}], "disease": [{"text": "gambling", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Our purposes were (1) to determine if there is hypoxia-regulated microRNA overexpressed in chondrosarcoma; (2) if that contributes to increased VEGF expression; and (3) can VEGF expression be inhibited with a specific antagomir?", "output": {"entities": {"gene": [{"text": "VEGF", "start": 144, "end": 148}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "A patient whose leukaemic cells carried the rare t (7; 11) (p15; p15) was diagnosed as having acute myelomonocytic leukaemia (AML-M4), and supports the association of this specific translocation with forms of acute myeloid leukaemia showing differentiation.", "output": {"entities": {"gene": [{"text": "p15", "start": 60, "end": 63}], "disease": [{"text": "acute myelomonocytic leukaemia", "start": 94, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Alterations in the CaR have been proposed to underlie the increases in Ca2 + set-point seen in primary hyperparathyroidism due to parathyroid adenoma.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 71, "end": 74}], "disease": [{"text": "primary hyperparathyroidism", "start": 95, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In cerebral heterotopia, the NR2A and NR2B downregulation was accompanied by less evident reduction of the SAP97 and PSD-95 proteins of the MAGUK family, thus suggesting that NMDA impairment was associated with altered molecular structure of the postsynaptic membrane.", "output": {"entities": {"gene": [{"text": "NR2A", "start": 29, "end": 33}], "disease": [{"text": "heterotopia", "start": 12, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Mel-18 negatively regulated the HIF-1α expression and its target gene VEGF transcription during both normoxia and hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 70, "end": 74}], "disease": [{"text": "hypoxia", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "BNP levels in patients with unstable angina and myocardial infarction were significantly increased with respect to the group with stable angina (P < 0. 01).", "output": {"entities": {"gene": [{"text": "BNP", "start": 0, "end": 3}], "disease": [{"text": "unstable angina", "start": 28, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Because hypoxia is a major stimulus for VEGF production, we examined the effects of LY294002, a selective PI3K inhibitor, on hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha expression and on endogenous VEGF responses to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 40, "end": 44}], "disease": [{"text": "hypoxia", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Here, we tested the hypothesis that single nucleotide polymorphisms (SNP) within COMT and BDNF genes are associated with dysphagia in older adults.", "output": {"entities": {"gene": [{"text": "COMT", "start": 81, "end": 85}], "disease": [{"text": "dysphagia", "start": 121, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "None of the cell lines examined demonstrated chromosomal translocation or rearrangement at the major breakpoint-cluster region (MBR) of the bcl-2 gene using either Southern blot or polymerase chain reaction (PCR) analyses.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 140, "end": 150}], "disease": [{"text": "chromosomal translocation", "start": 45, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.", "output": {"entities": {"gene": [{"text": "FERMT3", "start": 106, "end": 112}], "disease": [{"text": "leukocyte adhesion deficiency type III", "start": 42, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FERMT3", "start": 106, "end": 112}, "tail": {"text": "leukocyte adhesion deficiency type III", "start": 42, "end": 80}}]}}, "schema": []}
{"input": "Tyrosinase expression was evaluated together with standard cytology and ICC (anti-S100, HMB-45 and Melan-A antibodies) in biological fluid samples collected from 17 melanoma patients according to the site of metastatic involvement or clinical suspicion (eight cerebrospinal fluid (CSF) samples; three pleural effusions; four ascites; one bile sample, one pericardial effusion); 17 samples collected from patients with non-melanoma metastatic cancer were used as controls.", "output": {"entities": {"gene": [{"text": "Melan-A", "start": 99, "end": 106}], "disease": [{"text": "ascites", "start": 325, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "Together with ILK expression and Akt activation, these molecules could be involved in hippocampal neuroprotection in epilepsy.", "output": {"entities": {"gene": [{"text": "ILK", "start": 14, "end": 17}], "disease": [{"text": "epilepsy", "start": 117, "end": 125}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ILK", "start": 14, "end": 17}, "tail": {"text": "epilepsy", "start": 117, "end": 125}}]}}, "schema": []}
{"input": "In this study, serum samples from 164 patients with acute hepatitis of various aetiologies, from 34 asymptomatic hepatitis B virus carriers and from 202 healthy adults were tested for TTV DNA by the semiconserved nested polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "TTV", "start": 184, "end": 187}], "disease": [{"text": "asymptomatic", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We carried out an immunohistochemical examination of DNMT1 in both HCC and paired non-neoplastic liver tissues from Chinese subjects.", "output": {"entities": {"gene": [{"text": "HCC", "start": 67, "end": 70}], "disease": [{"text": "non-neoplastic", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "As the incidence of 13q-, time of development and prognostic impact in MGUS patients is still under debate, we decided to perform serial sequential conventional cytogenetics (CC) and metaphase/interphase fluorescence in situ hybridization (FISH) analyses on bone marrow mononuclear cells obtained from 18 asymptomatic, untreated MGUS patients.", "output": {"entities": {"gene": [{"text": "FISH", "start": 240, "end": 244}], "disease": [{"text": "asymptomatic", "start": 305, "end": 317}]}, "relations": {}}, "schema": []}
{"input": "The frequency of TT, TC, and CC genotypes of CYP1A1 polymorphism in the controls were 42. 5%, 45. 5%, and 12%, respectively, while those in the infertile men were 38. 7%, 48%, and 13. 3%.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 45, "end": 51}], "disease": [{"text": "infertile", "start": 144, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.", "output": {"entities": {"gene": [{"text": "IQCB1", "start": 41, "end": 46}], "disease": [{"text": "Leber congenital amaurosis", "start": 92, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IQCB1", "start": 41, "end": 46}, "tail": {"text": "Leber congenital amaurosis", "start": 92, "end": 118}}]}}, "schema": []}
{"input": "The homozygous C677T mutation in the MTHFR gene is associated with multiple small-artery occlusions, but not with single small-artery occlusion.", "output": {"entities": {"gene": [{"text": "MTHFR gene", "start": 37, "end": 47}], "disease": [{"text": "artery occlusion", "start": 82, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Microarray-based global gene expression analysis was performed on five poorly differentiated HCC cell lines compared with non-neoplastic hepatic controls and a set of three cholangiolar carcinoma (CC) cell lines.", "output": {"entities": {"gene": [{"text": "HCC", "start": 93, "end": 96}], "disease": [{"text": "non-neoplastic", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "B2M-deficient cases encompassed most of the nodular sclerosis subtype cases and only a minority of mixed cellularity cases, suggesting that B2M deficiency determines the tumor microenvironment and may define a major subset of cHL that has more uniform clinical and morphologic features.", "output": {"entities": {"gene": [{"text": "B2M", "start": 0, "end": 3}], "disease": [{"text": "nodular sclerosis", "start": 44, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Carriers of BRCA1 mutations showed significantly greater mean frequencies of induced chromosome breaks per cell than did healthy noncarrier relatives (0. 58 versus 0. 39; P & lt; 10 (-4)).", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 12, "end": 17}], "disease": [{"text": "chromosome breaks", "start": 85, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRCA1", "start": 12, "end": 17}, "tail": {"text": "chromosome breaks", "start": 85, "end": 102}}]}}, "schema": []}
{"input": "Taken together, these results suggest that elevated MyD88 may facilitate HCC metastasis by promoting EMT properties and tumor-initiating capabilities via PI3-K/Akt pathway.", "output": {"entities": {"gene": [{"text": "PI3", "start": 154, "end": 157}], "disease": [{"text": "metastasis", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Identification of gene variants in NOS3, ET-1 and RAS that confer risk and protection against microangiopathy in type 2 diabetic obese subjects.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 35, "end": 39}], "disease": [{"text": "microangiopathy", "start": 94, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Our study shows previously unidentified germline variants in SEMA4A predisposing to FCCTX, which has implications for surveillance strategies of patients and their families.", "output": {"entities": {"gene": [{"text": "SEMA4A", "start": 61, "end": 67}], "disease": [{"text": "FCCTX", "start": 84, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEMA4A", "start": 61, "end": 67}, "tail": {"text": "FCCTX", "start": 84, "end": 89}}]}}, "schema": []}
{"input": "These up-regulation phenomena were also observed in glioma U251 and U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 68, "end": 71}], "disease": [{"text": "glioma", "start": 52, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The genes superoxide dismutase (SOD2) and NAD (P) H: quinone oxidoreductase 1 (NQO1) are involved in inflammation and oxidative stress.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 79, "end": 83}], "disease": [{"text": "inflammation", "start": 101, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Decreased EGFR mutation rate with increased smoking dose was observed, with 48. 0% (82 of 171) in never smokers, 23. 1% (15 of 65) in former smokers, and 11. 4% (10 of 88) in current smokers.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 10, "end": 14}], "disease": [{"text": "smoking", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "IL1RAP was also overexpressed on HSCs of patients with normal karyotype AML and high-risk myelodysplastic syndrome, suggesting a pervasive role in different disease subtypes.", "output": {"entities": {"gene": [{"text": "IL1RAP", "start": 0, "end": 6}], "disease": [{"text": "myelodysplastic syndrome", "start": 90, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Taken together, mutations in CTLA4 resulting in CTLA-4 haploinsufficiency or impaired ligand binding result in disrupted T and B cell homeostasis and a complex immune dysregulation syndrome.", "output": {"entities": {"gene": [{"text": "CTLA4", "start": 29, "end": 34}], "disease": [{"text": "CTLA-4 haploinsufficiency", "start": 48, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTLA4", "start": 29, "end": 34}, "tail": {"text": "CTLA-4 haploinsufficiency", "start": 48, "end": 73}}]}}, "schema": []}
{"input": "The authors report a novel GFAP mutation in a patient with juvenile Alexander disease.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 27, "end": 31}], "disease": [{"text": "Alexander disease", "start": 68, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 27, "end": 31}, "tail": {"text": "Alexander disease", "start": 68, "end": 85}}]}}, "schema": []}
{"input": "Although mutations in HCN4 have been previously linked to bradycardia, our study provides the first evidence to our knowledge that mutations in this ion channel gene also may be associated with structural abnormalities of the myocardium.", "output": {"entities": {"gene": [{"text": "HCN4", "start": 22, "end": 26}], "disease": [{"text": "abnormalities", "start": 205, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "We also suggest that models analyzing long-term RCAN1 gene overexpression may help us to understand the molecular mechanisms of neurodegeneration in diseases such as Alzheimer disease, Down syndrome, and possibly others.", "output": {"entities": {"gene": [{"text": "RCAN1 gene", "start": 48, "end": 58}], "disease": [{"text": "neurodegeneration", "start": 128, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined changes in matrix metalloproteinase (MMP) inhibitors, such as the tissue inhibitors of metalloproteinase (TIMP)-1, TIMP-2 and RECK, in response to irradiation in Panc-1 pancreatic cancer cells.", "output": {"entities": {"gene": [{"text": "RECK", "start": 153, "end": 157}], "disease": [{"text": "pancreatic cancer", "start": 196, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Individuals of the investigated kindreds who were heterozygous for a SLC34A3 mutation frequently showed hypercalciuria, often in association with mild hypophosphatemia and/or elevations in 1, 25-dihydroxyvitamin D levels.", "output": {"entities": {"gene": [{"text": "SLC34A3", "start": 69, "end": 76}], "disease": [{"text": "mild", "start": 146, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in genes involved in the oxidative stress response may partially explain the documented heterogeneous associations between traffic-related air pollution (TRAP) exposure and asthma and allergies in children.", "output": {"entities": {"gene": [{"text": "TRAP", "start": 168, "end": 172}], "disease": [{"text": "asthma", "start": 187, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Racial differences in the association between body mass index and serum IGF1, IGF2, and IGFBP3.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 88, "end": 94}], "disease": [{"text": "body mass index", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The histology was compatible with alveolar rhabdomyosarcoma, but immunohistochemistry showed that the tumor cells were negative for desmin, alpha-smooth muscle actin and alpha-Sr-1, but were positive for CD56, vimentin and myogenin.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 146, "end": 165}], "disease": [{"text": "alveolar rhabdomyosarcoma", "start": 34, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.", "output": {"entities": {"gene": [{"text": "MKS3", "start": 33, "end": 37}], "disease": [{"text": "Joubert syndrome", "start": 53, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MKS3", "start": 33, "end": 37}, "tail": {"text": "Joubert syndrome", "start": 53, "end": 69}}]}}, "schema": []}
{"input": "Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.", "output": {"entities": {"gene": [{"text": "RAG1", "start": 19, "end": 23}], "disease": [{"text": "Omenn syndrome", "start": 88, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAG1", "start": 19, "end": 23}, "tail": {"text": "Omenn syndrome", "start": 88, "end": 102}}]}}, "schema": []}
{"input": "The expression of CCN2, IQSEC, RSPO1, DNAJC15, RIPK2, IL13RA2, IRS1, and IRS2 genes in blood of obese boys with insulin resistance.", "output": {"entities": {"gene": [{"text": "CCN2", "start": 18, "end": 22}], "disease": [{"text": "insulin resistance", "start": 112, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Multiple genes showed significant evidence of differential methylation, several appearing in both ulcerative colitis and Crohn' s disease comparisons including THRAP2, FANCC, GBGT1, DOK2, TNFSF4, TNFSF12, and FUT7.", "output": {"entities": {"gene": [{"text": "FUT7", "start": 209, "end": 213}], "disease": [{"text": "ulcerative colitis", "start": 98, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "These tumors displayed similar degrees of extensive necrosis and vascular proliferation, with VEGF expression consistently seen in tumor cells around necrotic areas.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 94, "end": 98}], "disease": [{"text": "necrotic", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Cell-cell contact dissociation was analyzed in vitro with biovolume measurements of isolated acini after incubation with purified S100A8/A9 heterodimers, and in vivo as measurement of Evans Blue extravasation after intravenous application of S100A8/A9.", "output": {"entities": {"gene": [{"text": "S100A8", "start": 130, "end": 136}], "disease": [{"text": "dissociation", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "AND-34/BCAR3 differs from other NSP homologs in induction of anti-estrogen resistance, cyclin D1 promoter activation and altered breast cancer cell morphology.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 87, "end": 96}], "disease": [{"text": "estrogen resistance", "start": 66, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations in HOXB13 and prostate-cancer risk.", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 22, "end": 28}], "disease": [{"text": "prostate-cancer", "start": 33, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXB13", "start": 22, "end": 28}, "tail": {"text": "prostate-cancer", "start": 33, "end": 48}}]}}, "schema": []}
{"input": "Myelin-oligodendrocyte-glycoprotein (MOG)-induced experimental autoimmune encephalomyelitis (EAE) induced in DA (RT1 (av1)) rats resembles multiple sclerosis (MS) in many aspects since central nervous system (CNS) pathology shows inflammation, demyelination and axonal loss.", "output": {"entities": {"gene": [{"text": "MOG", "start": 37, "end": 40}], "disease": [{"text": "inflammation", "start": 230, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "In addition, alpha1 (IV) NC1 inhibited hypoxia-induced expression of hypoxia-inducible factor 1alpha and VEGF in ECs cultured on type IV collagen by inhibiting ERK1/2 and p38 activation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 105, "end": 109}], "disease": [{"text": "hypoxia", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Association study of genetic variants in PLA2G4A, PLCG1, LAT, SYK, and TNFRS11A genes in NSAIDs-induced urticaria and/or angioedema patients.", "output": {"entities": {"gene": [{"text": "LAT", "start": 57, "end": 60}], "disease": [{"text": "angioedema", "start": 121, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Frequent promoter hypermethylation of BRCA2, CDH13, MSH6, PAX5, PAX6 and WT1 in ductal carcinoma in situ and invasive breast cancer.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 52, "end": 56}], "disease": [{"text": "invasive breast cancer", "start": 109, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "An inhibitor of phosphorylation of Erk-1/2 blocked the increase of VEGF expression and promoter activity induced by serum starvation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 67, "end": 71}], "disease": [{"text": "starvation", "start": 122, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Together, these findings suggest that CFH influences AMD risk by modulating oxidative stress, inflammation, and abnormal angiogenesis.", "output": {"entities": {"gene": [{"text": "CFH", "start": 38, "end": 41}], "disease": [{"text": "inflammation", "start": 94, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In this study, aberrant methylation in the SHP1 gene promoter was detected in many B-cell leukemia/lymphoma cell lines as well as in patient specimens, including diffuse large B-cell lymphoma (methylation frequency 93%), MALT lymphoma (82%), mantle cell lymphoma (75%), plasmacytoma (100%) and follicular lymphoma (96%) by methylation-specific PCR, bisulfite sequencing, and restriction enzyme-mediated PCR analyses.", "output": {"entities": {"gene": [{"text": "SHP1", "start": 43, "end": 47}], "disease": [{"text": "mantle cell lymphoma", "start": 242, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Mithramycin, an inhibitor of SP-1, at 1-10 nM inhibited activation of the VEGF gene by bFGF or TNF-alpha but not that by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 74, "end": 78}], "disease": [{"text": "hypoxia", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "(1) Expressions of TLR4, levels of TNF-& #945; and MMP-9 were increased and the rate was rising from the control group, to SAP group and then to ACS group.", "output": {"entities": {"gene": [{"text": "TNF", "start": 35, "end": 38}], "disease": [{"text": "SAP", "start": 123, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 35, "end": 38}, "tail": {"text": "SAP", "start": 123, "end": 126}}]}}, "schema": []}
{"input": "We hypothesized that leptin deficiency, despite obesity, would inhibit carcinogenesis in leptin-null ob/ob mice and tested this hypothesis in two models: (a) two-stage skin carcinogenesis initiated by 7, 12-dimethylbenz (a) anthracene and promoted by phorbol 12-myristate 13-acetate (PMA) and (b) p53 deficiency.", "output": {"entities": {"gene": [{"text": "p53", "start": 297, "end": 300}], "disease": [{"text": "leptin deficiency", "start": 21, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the usefulness of LAMP for diagnosing central nervous system infection with herpes simplex virus (HSV), we compared the LAMP method with real-time PCR, using samples that were previously tested by nested PCR.", "output": {"entities": {"gene": [{"text": "LAMP", "start": 30, "end": 34}], "disease": [{"text": "central nervous system infection", "start": 50, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.", "output": {"entities": {"gene": [{"text": "IL-17RC", "start": 10, "end": 17}], "disease": [{"text": "chronic mucocutaneous candidiasis", "start": 46, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IL-17RC", "start": 10, "end": 17}, "tail": {"text": "chronic mucocutaneous candidiasis", "start": 46, "end": 79}}]}}, "schema": []}
{"input": "Expression of HOXB genes is significantly different in acute myeloid leukemia with a partial tandem duplication of MLL vs. a MLL translocation: a cross-laboratory study.", "output": {"entities": {"gene": [{"text": "HOXB", "start": 14, "end": 18}], "disease": [{"text": "translocation", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In 42 healthy Japanese non-smoking men, we investigated the relationship between the MN frequency levels and genetic polymorphisms in three different genes: aldehyde dehydrogenase 2 (ALDH2), X-ray repair cross-complementing group 1 (XRCC1) and excision repair cross-complementing group 2 (ERCC2).", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 183, "end": 188}], "disease": [{"text": "smoking", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "[Analysis of insertion-deletion polymorphism in serotonin transporter gene in men of different ethnic appurtenance with acute alcoholic psychosis].", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 48, "end": 69}], "disease": [{"text": "alcoholic psychosis", "start": 126, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The number of observed cases of Pneumocystis carinii pneumonia (PCP), toxoplasmosis, Mycobacterium avium complex (MAC) and cryptosporidiosis reported as a first ADI was substantially fewer in people heterozygous for the CCR5-Delta32 mutation than for those without the mutation, despite similar age, CD4 T-cell count at AIDS diagnosis, year of AIDS diagnosis and receipt of antiretroviral treatment.", "output": {"entities": {"gene": [{"text": "MAC", "start": 114, "end": 117}], "disease": [{"text": "toxoplasmosis", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Our results decipher the mechanism through which HIC1 deficiency induce ESCC cells to undergo EMT and promote tumor progression and metastasis through activation of EphA2 signaling pathway.", "output": {"entities": {"gene": [{"text": "EMT", "start": 94, "end": 97}], "disease": [{"text": "tumor progression", "start": 110, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "However, the function of TR2 in prostate and prostate cancer and the relationship between TR2 and AR in the prostate cancer is unclear.", "output": {"entities": {"gene": [{"text": "TR2", "start": 25, "end": 28}], "disease": [{"text": "prostate cancer", "start": 45, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In sections of liver infected with hepatitis B virus (HBV) or hepatitis C virus (HCV), the expression of CYP2A6 was markedly increased in hepatocytes immediately adjacent to areas of fibrosis and inflammation.", "output": {"entities": {"gene": [{"text": "CYP2A6", "start": 105, "end": 111}], "disease": [{"text": "hepatitis B", "start": 35, "end": 46}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2A6", "start": 105, "end": 111}, "tail": {"text": "hepatitis B", "start": 35, "end": 46}}]}}, "schema": []}
{"input": "Cells containing IFN-gamma mRNA were detected mainly inside sarcoid granulomas, whereas cells containing IL-2 mRNA were randomly distributed.", "output": {"entities": {"gene": [{"text": "IFN", "start": 17, "end": 20}], "disease": [{"text": "granulomas", "start": 68, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The capacity of cyclin D1 to enhance gene amplification may contribute to the process of genomic instability during tumor development.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 16, "end": 25}], "disease": [{"text": "genomic instability", "start": 89, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cyclin D1", "start": 16, "end": 25}, "tail": {"text": "genomic instability", "start": 89, "end": 108}}]}}, "schema": []}
{"input": "These results indicated that defects of the MTP gene are the proximal cause of ABL.", "output": {"entities": {"gene": [{"text": "MTP", "start": 44, "end": 47}], "disease": [{"text": "ABL", "start": 79, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTP", "start": 44, "end": 47}, "tail": {"text": "ABL", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "To investigate the role of IL-18 in BSA glomerulonephritis, we used IL-18R-deficient C57BL/6 mice.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 27, "end": 32}], "disease": [{"text": "glomerulonephritis", "start": 40, "end": 58}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-18", "start": 27, "end": 32}, "tail": {"text": "glomerulonephritis", "start": 40, "end": 58}}]}}, "schema": []}
{"input": "D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome.", "output": {"entities": {"gene": [{"text": "GJB2", "start": 17, "end": 21}], "disease": [{"text": "Vohwinkel syndrome", "start": 62, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJB2", "start": 17, "end": 21}, "tail": {"text": "Vohwinkel syndrome", "start": 62, "end": 80}}]}}, "schema": []}
{"input": "We investigated the effect of K5 combined with the 131I radiation positive feedback effect (Egr1-NIS) for treating malignant U87 glioma cells using a lentiviral vector.", "output": {"entities": {"gene": [{"text": "U87", "start": 125, "end": 128}], "disease": [{"text": "glioma", "start": 129, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Cytotoxicity assays showed that the resistance of the osteosarcoma cell lines to etoposide correlated with PXR protein expression levels and activation of P450 3A4 and could be prevented by ketoconazole.", "output": {"entities": {"gene": [{"text": "PXR", "start": 107, "end": 110}], "disease": [{"text": "osteosarcoma", "start": 54, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PXR", "start": 107, "end": 110}, "tail": {"text": "osteosarcoma", "start": 54, "end": 66}}]}}, "schema": []}
{"input": "The objective of this study was to describe a multiple endocrine neoplasia type 1 (MEN1) family characterized by primary hyperparathyroidism, in association with acromegaly because of ectopic growth hormone-releasing hormone (GHRH) secretion by a pancreatic neuroendocrine tumor in a young man and with a bronchial carcinoid in his mother.", "output": {"entities": {"gene": [{"text": "GHRH", "start": 226, "end": 230}], "disease": [{"text": "primary hyperparathyroidism", "start": 113, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that WISP1 present within the tumor microenvironment stimulates melanoma invasion and metastasis by promoting an EMT-like process.", "output": {"entities": {"gene": [{"text": "WISP1", "start": 26, "end": 31}], "disease": [{"text": "metastasis", "start": 107, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WISP1", "start": 26, "end": 31}, "tail": {"text": "metastasis", "start": 107, "end": 117}}]}}, "schema": []}
{"input": "Mice with a cardiomyocyte-restricted deletion of signal transducer and activator of transcription-3 (STAT3, CKO) develop PPCM.", "output": {"entities": {"gene": [{"text": "signal transducer and activator of transcription-3", "start": 49, "end": 99}], "disease": [{"text": "PPCM", "start": 121, "end": 125}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "signal transducer and activator of transcription-3", "start": 49, "end": 99}, "tail": {"text": "PPCM", "start": 121, "end": 125}}]}}, "schema": []}
{"input": "A new experimental concept that encompasses the vasoactive intestinal peptide/pituitary adenylate cyclase activating peptide (PACAP) family of receptors by demonstrating the anti-inflammatory effects of the PACAP receptor 1 (PAC1R) in a murine model of allergic asthma is described.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 126, "end": 131}], "disease": [{"text": "asthma", "start": 262, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "In all cases where the ABCB4 genotyping confirms the diagnosis of LPAC syndrome in young adults, long-term curative or prophylactic therapy with ursodeoxycholic acid (UDCA) should be initiated early to prevent the occurrence or recurrence of the syndrome and its complications.", "output": {"entities": {"gene": [{"text": "ABCB4", "start": 23, "end": 28}], "disease": [{"text": "LPAC", "start": 66, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCB4", "start": 23, "end": 28}, "tail": {"text": "LPAC", "start": 66, "end": 70}}]}}, "schema": []}
{"input": "The lack of spontaneous puberty seems related both with gonadotropin deficiency, as suggested by hormonal data and MRI of the pituitary region, and with gonadal dysgenesis, due to the X/autosome translocation, involving the critical region of the X chromosome essential for normal ovarian function.", "output": {"entities": {"gene": [{"text": "MRI", "start": 115, "end": 118}], "disease": [{"text": "translocation", "start": 195, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "The 39-year-old white male proband, with amaurosis fugax and transient ischemic attacks (TIA), was found to be a compound heterozygote for FVL and PTG mutations.", "output": {"entities": {"gene": [{"text": "PTG", "start": 147, "end": 150}], "disease": [{"text": "transient ischemic attacks", "start": 61, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanone induces retinoic acid receptor β hypermethylation through DNA methyltransferase 1 accumulation in esophageal squamous epithelial cells.", "output": {"entities": {"gene": [{"text": "DNA methyltransferase 1", "start": 105, "end": 128}], "disease": [{"text": "esophageal", "start": 145, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In particular, a reduction of hypoxia-induced VEGF secretion was observed after 4625 treatment, and the conditioned medium (CM) of bcl-2 overexpressing clones treated with 4625 and exposed to hypoxic conditions resulted in decreased endothelial cell proliferation when compared to CM of untreated control cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 46, "end": 50}], "disease": [{"text": "hypoxic", "start": 192, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxic conditions, cells with decreased Src activity had a < 2-fold increase in VEGF expression, whereas parental cells had a > 50-fold increase.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 87, "end": 91}], "disease": [{"text": "hypoxic", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 21, "end": 38}], "disease": [{"text": "androgen insensitivity syndrome", "start": 106, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 21, "end": 38}, "tail": {"text": "androgen insensitivity syndrome", "start": 106, "end": 137}}]}}, "schema": []}
{"input": "A third new translocation was identified in two patients using SKY and G-banding as der (7) t (7; 7) (p15 approximately 22; q22 approximately 32).", "output": {"entities": {"gene": [{"text": "SKY", "start": 63, "end": 66}], "disease": [{"text": "translocation", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The tight-skin (TSK/+) mouse, a genetic model of systemic sclerosis (SSc), develops cutaneous fibrosis and defects in pulmonary architecture.", "output": {"entities": {"gene": [{"text": "TSK", "start": 16, "end": 19}], "disease": [{"text": "fibrosis", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "MS identified four upregulated spots: aspartyl tRNA synthetase glutathione synthetase, interleukin-1 receptor-associated kinase-4 (IRAK4), and breast carcinoma amplified sequence-1 and one downregulated spot: optineurin.", "output": {"entities": {"gene": [{"text": "glutathione synthetase", "start": 63, "end": 85}], "disease": [{"text": "breast carcinoma", "start": 143, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Experimental goblet cell hyperplasia caused by ovalbumin sensitization, interleukin 4 (IL4), IL13 and targeted deletion of the gene encoding surfactant protein C (SP-C), was associated with either absent or decreased expression of Foxa2 in airway epithelial cells.", "output": {"entities": {"gene": [{"text": "Foxa2", "start": 231, "end": 236}], "disease": [{"text": "hyperplasia", "start": 25, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Clusterin (CLU) is a ubiquitous multifunctional factor involved in neoplastic transformation.", "output": {"entities": {"gene": [{"text": "CLU", "start": 11, "end": 14}], "disease": [{"text": "neoplastic transformation", "start": 67, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys-Dietz syndrome (type I) and in 12 probands presenting with vascular Ehlers-Danlos syndrome (Loeys-Dietz syndrome type II).", "output": {"entities": {"gene": [{"text": "TGFBR2", "start": 33, "end": 39}], "disease": [{"text": "Loeys-Dietz syndrome", "start": 69, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBR2", "start": 33, "end": 39}, "tail": {"text": "Loeys-Dietz syndrome", "start": 69, "end": 89}}]}}, "schema": []}
{"input": "Retinal vascularization was investigated in flatmount preparations after concanavalin A labeling of endothelial cells on days P6, P14, P17, and P20.", "output": {"entities": {"gene": [{"text": "P17", "start": 135, "end": 138}], "disease": [{"text": "vascularization", "start": 8, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Simultaneous staining for CD62E and FISH analysis showed that cells with endothelial characteristics belonged to the leukemia.", "output": {"entities": {"gene": [{"text": "FISH", "start": 36, "end": 40}], "disease": [{"text": "leukemia", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxia, retinal pigment epithelial (RPE) cells can secret more transforming growth factor-β2 (TGF-β2), which is determined to induce epithelial-mesenchymal transition (EMT) at certain concentrations.", "output": {"entities": {"gene": [{"text": "RPE", "start": 43, "end": 46}], "disease": [{"text": "hypoxia", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "The connection between polyQ expansion in Htt (exp) and MSN neurodegeneration remains elusive.", "output": {"entities": {"gene": [{"text": "MSN", "start": 56, "end": 59}], "disease": [{"text": "neurodegeneration", "start": 60, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "It is also well-established that during the latter stages of HIV-1 infection, an increase in the production and nuclear export of unspliced viral mRNA is indispensible for efficient HIV-1 replication and that the presence of ASF/SF2 leads to excessive viral pre-mRNA splicing and a reduction of unspliced mRNA, while the presence of SRp55 inhibits viral pre-mRNA splicing and aids in the generation and translation of unspliced HIV-1 mRNAs.", "output": {"entities": {"gene": [{"text": "SRp55", "start": 333, "end": 338}], "disease": [{"text": "aids", "start": 376, "end": 380}]}, "relations": {}}, "schema": []}
{"input": "This translocation results in rearrangements of the SYT gene in 18q11 and one of the SSX1, SSX2, or SSX4 genes in Xp11, creating a SYT/SSX1, SYT/SSX2, or SYT/SSX4 chimeric gene.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 91, "end": 95}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Most patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985), causing a change from lysine to glutamate at position 304 (K304E) in the mature MCAD.", "output": {"entities": {"gene": [{"text": "MCAD", "start": 19, "end": 23}], "disease": [{"text": "MCAD deficiency", "start": 19, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCAD", "start": 19, "end": 23}, "tail": {"text": "MCAD deficiency", "start": 19, "end": 34}}]}}, "schema": []}
{"input": "In the present study, we show that each of these transcription factors is robustly expressed in adult dopamine neurons in human midbrain, and that cocaine abuse is associated with a significant decrease in the abundance of Nurr1 and Pitx3 in these cells.", "output": {"entities": {"gene": [{"text": "Pitx3", "start": 233, "end": 238}], "disease": [{"text": "cocaine abuse", "start": 147, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pitx3", "start": 233, "end": 238}, "tail": {"text": "cocaine abuse", "start": 147, "end": 160}}]}}, "schema": []}
{"input": "We also demonstrated that Pyk2 plays a crucial role in ROS generation during hypoxic stress and that this Pyk2-dependent generation of ROS is necessary for the activation of hypoxia-inducible factor-1α, a key molecule in the pathogenesis of hypoxia-induced PH.", "output": {"entities": {"gene": [{"text": "Pyk2", "start": 26, "end": 30}], "disease": [{"text": "hypoxia", "start": 174, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We investigated the prevalence of common polymorphisms that have been associated with diseases, such as atherosclerosis (ALOX5), hypertension (CYP3A5, AGT, GNB3), diabetes (CAPN10, TCF7L2, PTPN22), prostate cancer (DG8S737, rs1447295), Hirschsprung disease (RET), and age-related macular degeneration (CFH, LOC387715).", "output": {"entities": {"gene": [{"text": "PTPN22", "start": 189, "end": 195}], "disease": [{"text": "age-related macular degeneration", "start": 268, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, gene expression analyses established the ability of DKK2 to differentially regulate genes such as CXCR4, PTHrP, RUNX2, and TGFβ1 that are associated with homing, invasion, and growth of cancer cells in bone tissue as well as genes important for osteolysis, including HIF1α, JAG1, IL6, and VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 302, "end": 306}], "disease": [{"text": "osteolysis", "start": 258, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "While investigating the above finding, we found that expression of CYP26A1, a major retinoic acid catabolic enzyme, was up-regulated in Apc (MIN) mouse adenomas, human FAP adenomas, human sporadic colon carcinomas, and in the intestine of apc (mcr) mutant zebrafish embryos.", "output": {"entities": {"gene": [{"text": "CYP26A1", "start": 67, "end": 74}], "disease": [{"text": "sporadic", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "The GLI2 coding region of patients with isolated GH deficiency (IGHD) or combined pituitary hormone deficiency was amplified by PCR using intronic primers and sequenced.", "output": {"entities": {"gene": [{"text": "GLI2", "start": 4, "end": 8}], "disease": [{"text": "pituitary hormone deficiency", "start": 82, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "This adhesion mechanism of DPPIV is mediated by immobilized and soluble fibronectin.", "output": {"entities": {"gene": [{"text": "DPPIV", "start": 27, "end": 32}], "disease": [{"text": "adhesion", "start": 5, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "We present a hypertensive child with a co-existence of polyarteritis nodosa, anti-phospholipid antibodies (aPL), methylenetetrahydrofolate reductase (MTHFR) mutation and increased lipoprotein a level.", "output": {"entities": {"gene": [{"text": "MTHFR", "start": 150, "end": 155}], "disease": [{"text": "polyarteritis nodosa", "start": 55, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The A----T mutation in codon 61 (AAG----TAG) resulted in the creation of a stop codon and thus in beta (0)-thalassemia.", "output": {"entities": {"gene": [{"text": "TAG", "start": 40, "end": 43}], "disease": [{"text": "thalassemia", "start": 107, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Loss of LKB1 expression reduces the latency of ErbB2-mediated mammary gland tumorigenesis, promoting changes in metabolic pathways.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 8, "end": 12}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The results suggest an altered ECM turnover in the endometrium of patients with fertility disorders prior to implantation.", "output": {"entities": {"gene": [{"text": "ECM", "start": 31, "end": 34}], "disease": [{"text": "fertility disorders", "start": 80, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The specificity of CK7 and CK20 (CK7/20) expression patterns in patients with IM-associated gastric adenocarcinoma, which is distinct epidemiologically from BE/Barrett adenocarcinoma, has not been evaluated.", "output": {"entities": {"gene": [{"text": "CK20", "start": 27, "end": 31}], "disease": [{"text": "gastric adenocarcinoma", "start": 92, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The present study showed that, in a panel of myeloid leukaemia cell lines, basal level of SPHK1 correlated with the degree of kinase inhibition by SKI.", "output": {"entities": {"gene": [{"text": "SKI", "start": 147, "end": 150}], "disease": [{"text": "myeloid leukaemia", "start": 45, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the DNA sequences of BCKDHA, BCKDHB and DBT genes for mutations in a Chinese newborn with the classic form of MSUD and predicted the associated conformational changes using molecular modeling.", "output": {"entities": {"gene": [{"text": "BCKDHB", "start": 60, "end": 66}], "disease": [{"text": "MSUD", "start": 141, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCKDHB", "start": 60, "end": 66}, "tail": {"text": "MSUD", "start": 141, "end": 145}}]}}, "schema": []}
{"input": "The association of pemphigus vulgaris with the HLA serotypes, DR4 and DRw6, and with the DQ-beta chain alleles, DQw1 and DQw3, suggests that there is a genetic predisposition to this disease.", "output": {"entities": {"gene": [{"text": "DR4", "start": 62, "end": 65}], "disease": [{"text": "pemphigus vulgaris", "start": 19, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "GRAIL-expressing T cells expressed regulatory T cell markers and showed suppressive effects in murine DSS-induced colitis.", "output": {"entities": {"gene": [{"text": "GRAIL", "start": 0, "end": 5}], "disease": [{"text": "colitis", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The FISH results were systematically analyzed among groups, based on histologic diagnosis, cytologic finding, HR-HPV viral load, and age status.", "output": {"entities": {"gene": [{"text": "FISH", "start": 4, "end": 8}], "disease": [{"text": "viral load", "start": 117, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the contribution of gene expression to the dysregulated cytokine levels, we studied platelet PDGF-A, PDGF-B, TGFbeta1, and bFGF mRNA in ET patients before and during anagrelide treatment.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 105, "end": 111}], "disease": [{"text": "ET", "start": 148, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDGF-A", "start": 105, "end": 111}, "tail": {"text": "ET", "start": 148, "end": 150}}]}}, "schema": []}
{"input": "The present study estimated the basal epithelial cell growth fraction using a standard immunohistological method for the detection of nuclear PCNA from 20 Nepalese patients with OSF as 31. 8 per cent compared with 7. 6 per cent for oral mucosa from 43 normal subjects (p < 0. 001) and 39. 4 per cent for 44 patients with oral cancer.", "output": {"entities": {"gene": [{"text": "OSF", "start": 178, "end": 181}], "disease": [{"text": "oral cancer", "start": 321, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "Overall, these results demonstrate a Knudson tumor suppressor role for SH2B3 in the pathogenesis of ALL and highlight a possible link between genetic predisposition factors in the pathogenesis of autoimmunity and leukemogenesis.", "output": {"entities": {"gene": [{"text": "SH2B3", "start": 71, "end": 76}], "disease": [{"text": "ALL", "start": 100, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SH2B3", "start": 71, "end": 76}, "tail": {"text": "ALL", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "Hypomorphic mutation in one allele of ribosomal protein l24 gene (Rpl24) is responsible for the Belly Spot and Tail (Bst) mouse, which suffers from defects of the eye, skeleton, and coat pigmentation.", "output": {"entities": {"gene": [{"text": "Rpl24", "start": 66, "end": 71}], "disease": [{"text": "pigmentation", "start": 187, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "These characteristics of DPP-IV may predispose patients with coronary artery disease (CAD) to plaque rupture and thus to myocardial infarction.", "output": {"entities": {"gene": [{"text": "DPP", "start": 25, "end": 28}], "disease": [{"text": "coronary artery disease", "start": 61, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The number of preretinal nuclei in hyperoxia-treated mice was reduced by 66% (P < 0. 05) in EphrinB2-injected eyes, whereas EphB4 treatment yielded a 69% reduction (P < 0. 05), compared with control injections.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 124, "end": 129}], "disease": [{"text": "hyperoxia", "start": 35, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.", "output": {"entities": {"gene": [{"text": "SPTAN1", "start": 55, "end": 61}], "disease": [{"text": "pontocerebellar atrophy", "start": 93, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "A positive association of FTO and ADIPOQ gene variants with pancreatic cancer may be limited to persons who are overweight.", "output": {"entities": {"gene": [{"text": "FTO", "start": 26, "end": 29}], "disease": [{"text": "overweight", "start": 112, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Recent GWAS showed the importance of ERAP1 and ERAP2 in several autoimmune diseases, including ankylosing spondylitis, insulin-dependent diabetes mellitus, psoriasis, multiple sclerosis, Crohn' s disease.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 37, "end": 42}], "disease": [{"text": "spondylitis", "start": 106, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "PTEN (phosphatase and tensin homologue deleted on chromosome ten) is a tumor suppressor gene implicated in a wide variety of human cancers, including glioblastoma.", "output": {"entities": {"gene": [{"text": "tensin", "start": 22, "end": 28}], "disease": [{"text": "glioblastoma", "start": 150, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "In patients with MEN 1: 1) levels of intact PTH (i-PTH) gradually increased with age, which accelerated over 40 years; 2) compared to the steep rise in i-PTH levels in aged patients, increase in serum calcium or decrease of serum inorganic phosphate concentration was relatively mild, and 3) the high concentrations of i-PTH in aged patients were not due to renal insufficiency.", "output": {"entities": {"gene": [{"text": "PTH", "start": 44, "end": 47}], "disease": [{"text": "mild", "start": 279, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "We describe two novel chromosomal translocations in two cases of leukemia in which these translocations were further characterized as the sole acquired karyotypic abnormality by mutliplex fluorescence in situ hybridization (M-FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 226, "end": 230}], "disease": [{"text": "leukemia", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "A recently identified germline mutation G84E in HOXB13 was shown to increase the risk of prostate cancer.", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 48, "end": 54}], "disease": [{"text": "prostate cancer", "start": 89, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXB13", "start": 48, "end": 54}, "tail": {"text": "prostate cancer", "start": 89, "end": 104}}]}}, "schema": []}
{"input": "Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.", "output": {"entities": {"gene": [{"text": "SMARCAD1", "start": 78, "end": 86}], "disease": [{"text": "Basan syndrome", "start": 127, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCAD1", "start": 78, "end": 86}, "tail": {"text": "Basan syndrome", "start": 127, "end": 141}}]}}, "schema": []}
{"input": "In the three related patients with microhydranencephaly that we had reported previously, we identified a homozygous deletion that encompasses NDE1 exon 2 containing the initiation codon.", "output": {"entities": {"gene": [{"text": "NDE1", "start": 142, "end": 146}], "disease": [{"text": "microhydranencephaly", "start": 35, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDE1", "start": 142, "end": 146}, "tail": {"text": "microhydranencephaly", "start": 35, "end": 55}}]}}, "schema": []}
{"input": "We found (i) a statistically significant increase in the frequency of the functional GSTM1 allele in high-grade pediatric astrocytomas (p < 0. 002), (ii) a significant increase in the frequency of the rare GSTP1 variant Val114/Val114 in pediatric astrocytomas (p < 0. 002), and (iii) a significant increase in the frequency of the rare GSTP1 Val114/Val114 genotype among pediatric tumors showing microsatellite instability (MSI) due to defects in mismatch repair (MMR) proteins (p = 0. 003).", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 206, "end": 211}], "disease": [{"text": "microsatellite instability", "start": 396, "end": 422}]}, "relations": {}}, "schema": []}
{"input": "Using 98 formalin-fixed, paraffin-embedded samples obtained from patients with esophageal cancer who had received preoperative chemotherapy followed by surgery, we measured expression levels of several miRNAs that are considered to be involved in the regulation of stem cell function (e. g., let-7a, let-7g, miR-21, miR-134, miR-145, miR-155, miR-200c, miR-203, and miR-296) by real-time reverse transcriptase PCR.", "output": {"entities": {"gene": [{"text": "miR-200c", "start": 343, "end": 351}], "disease": [{"text": "esophageal cancer", "start": 79, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-200c", "start": 343, "end": 351}, "tail": {"text": "esophageal cancer", "start": 79, "end": 96}}]}}, "schema": []}
{"input": "We developed an isopropyl-beta-D-thiogalactopyranoside-inducible COX-2 gene expression system in human lung adenocarcinoma CL1. 0 cells.", "output": {"entities": {"gene": [{"text": "CL1", "start": 123, "end": 126}], "disease": [{"text": "lung adenocarcinoma", "start": 103, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Thus, we hypothesize that spinal MMP-9 may contribute to the development of morphine dependence primarily through neuronal activation and interaction with NR1 and NR2B receptors via integrin-beta1 and NO pathways.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 33, "end": 38}], "disease": [{"text": "morphine dependence", "start": 76, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 33, "end": 38}, "tail": {"text": "morphine dependence", "start": 76, "end": 95}}]}}, "schema": []}
{"input": "Four different genes were exclusively upregulated in sarcoidosis: fatty acid binding protein 4 (FABP4), B-MYB, and two EST' s.", "output": {"entities": {"gene": [{"text": "B-MYB", "start": 104, "end": 109}], "disease": [{"text": "sarcoidosis", "start": 53, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "One of the genes suggested to play an important role in the pathophysiology of bipolar disorder (BPD) is PDLIM5, which encodes LIM domain protein.", "output": {"entities": {"gene": [{"text": "LIM domain protein", "start": 127, "end": 145}], "disease": [{"text": "bipolar disorder", "start": 79, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LIM domain protein", "start": 127, "end": 145}, "tail": {"text": "bipolar disorder", "start": 79, "end": 95}}]}}, "schema": []}
{"input": "Transforming growth factor-beta receptor antagonism attenuates myocardial fibrosis in mice with cardiac-restricted overexpression of tumor necrosis factor.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor", "start": 133, "end": 154}], "disease": [{"text": "fibrosis", "start": 74, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor", "start": 133, "end": 154}, "tail": {"text": "fibrosis", "start": 74, "end": 82}}]}}, "schema": []}
{"input": "Here we further investigated the role of NCX in the etiology of seizures by quantifying the effects of KB-R7943 and SN-6, potent inhibitors of the reverse mode of NCX subtypes 3 (NCX3) and 1 (NCX1), respectively, on the occurrence of acute seizures and status epilepticus induced by intraperitoneal administration of pilocarpine, a muscarinic acetylcholine receptor agonist.", "output": {"entities": {"gene": [{"text": "NCX3", "start": 179, "end": 183}], "disease": [{"text": "status epilepticus", "start": 253, "end": 271}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NCX3", "start": 179, "end": 183}, "tail": {"text": "status epilepticus", "start": 253, "end": 271}}]}}, "schema": []}
{"input": "Mutations in the USH2A gene, located on 1q41, were recently shown to be responsible for Usher syndrome type IIa.", "output": {"entities": {"gene": [{"text": "USH2A", "start": 17, "end": 22}], "disease": [{"text": "Usher syndrome type IIa", "start": 88, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USH2A", "start": 17, "end": 22}, "tail": {"text": "Usher syndrome type IIa", "start": 88, "end": 111}}]}}, "schema": []}
{"input": "In addition, blockade of PAR1 by RWJ 56110, a selective PAR1 antagonist, fully abolished the effect of thrombin on HT-29 cell migration and adhesion.", "output": {"entities": {"gene": [{"text": "PAR1", "start": 25, "end": 29}], "disease": [{"text": "adhesion", "start": 140, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that GZF1 mutations cause a phenotype of severe myopia and significant articular involvement not previously described in Larsen syndrome.", "output": {"entities": {"gene": [{"text": "GZF1", "start": 25, "end": 29}], "disease": [{"text": "Larsen syndrome", "start": 141, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GZF1", "start": 25, "end": 29}, "tail": {"text": "Larsen syndrome", "start": 141, "end": 156}}]}}, "schema": []}
{"input": "Rats reinjected with anti-megalin develop heavy proteinuria a few days later, concomitant with c-mip overproduction in podocytes.", "output": {"entities": {"gene": [{"text": "megalin", "start": 26, "end": 33}], "disease": [{"text": "heavy proteinuria", "start": 42, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "There are evidences from several cytology experiments showing that MYT1 is associated with carcinoma.", "output": {"entities": {"gene": [{"text": "MYT1", "start": 67, "end": 71}], "disease": [{"text": "carcinoma", "start": 91, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Interferon-γ inducible protein 16 (IFI16), a multifunctional protein, has roles in anti-proliferation, autophagy, cell senescence, anti-inflammation, and DNA sensor to trigger innate immunity.", "output": {"entities": {"gene": [{"text": "IFI16", "start": 35, "end": 40}], "disease": [{"text": "inflammation", "start": 136, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, MSE analysis of human pancreatic juice may provide useful information for selection of treatment for pancreatic neoplasms.", "output": {"entities": {"gene": [{"text": "MSE", "start": 15, "end": 18}], "disease": [{"text": "pancreatic neoplasms", "start": 116, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In carcinoma cells depressed expression of BAX, presence in the cytosol of procaspase-3 and absence in this fraction of cytochrome c have been found.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 120, "end": 132}], "disease": [{"text": "carcinoma", "start": 3, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "The E280K mutation in exon 7 of the PAH gene is a cause of phenylketonuria.", "output": {"entities": {"gene": [{"text": "PAH", "start": 36, "end": 39}], "disease": [{"text": "phenylketonuria", "start": 59, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAH", "start": 36, "end": 39}, "tail": {"text": "phenylketonuria", "start": 59, "end": 74}}]}}, "schema": []}
{"input": "WDR4 maps between PDE9A and NDUFV3, a region where several genetic disorders, including a form of manic-depressive psychosis, also map, and seven sequence variants observed in the WDR4 gene could be used in association studies.", "output": {"entities": {"gene": [{"text": "NDUFV3", "start": 28, "end": 34}], "disease": [{"text": "manic-depressive psychosis", "start": 98, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDUFV3", "start": 28, "end": 34}, "tail": {"text": "manic-depressive psychosis", "start": 98, "end": 124}}]}}, "schema": []}
{"input": "Mutations in AARS were previously associated with an autosomal-dominant inherited form of axonal neuropathy, Charcot-Marie-Tooth disease type 2N (CMT2N).", "output": {"entities": {"gene": [{"text": "AARS", "start": 13, "end": 17}], "disease": [{"text": "axonal neuropathy", "start": 90, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.", "output": {"entities": {"gene": [{"text": "KCNN4", "start": 33, "end": 38}], "disease": [{"text": "hereditary xerocytosis", "start": 60, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNN4", "start": 33, "end": 38}, "tail": {"text": "hereditary xerocytosis", "start": 60, "end": 82}}]}}, "schema": []}
{"input": "VEGF was synergistically up-regulated by hypoxia and AGE-HSA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "How the new fusion gene contributes to tumorigenesis is unknown, but the finding of an EWSR1 rearrangement suggests that this, possibly even the EWSR1-ZNF444, is a defining pathogenetic feature of at least a subset of these tumors.", "output": {"entities": {"gene": [{"text": "ZNF444", "start": 151, "end": 157}], "disease": [{"text": "tumorigenesis", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The primary objective of this study was to assess the effects of HCS on both the invasion of pancreatic cancer cells in vitro and on the progression of liver metastasis in vivo in this study.", "output": {"entities": {"gene": [{"text": "HCS", "start": 65, "end": 68}], "disease": [{"text": "liver metastasis", "start": 152, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "A panel of seven human EGFR wild-type NSCLC cell lines was characterized for their sensitivity to sequential treatment with cisplatin and erlotinib, and the results were correlated with CHFR.", "output": {"entities": {"gene": [{"text": "CHFR", "start": 186, "end": 190}], "disease": [{"text": "NSCLC", "start": 38, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHFR", "start": 186, "end": 190}, "tail": {"text": "NSCLC", "start": 38, "end": 43}}]}}, "schema": []}
{"input": "A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 37, "end": 42}], "disease": [{"text": "occipital horn syndrome", "start": 87, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7A", "start": 37, "end": 42}, "tail": {"text": "occipital horn syndrome", "start": 87, "end": 110}}]}}, "schema": []}
{"input": "There was suggestively significant correlation between visfatin level and body mass index (r =-0. 17 P = 0. 07) and waist-hip ratio (r = 0. 16 P = 0. 08) in male subjects, but not in female subjects.", "output": {"entities": {"gene": [{"text": "visfatin", "start": 55, "end": 63}], "disease": [{"text": "waist-hip ratio", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of EGF receptor and its ligands, AREG, EREG, and HB-EGF in oral lichen planus.", "output": {"entities": {"gene": [{"text": "AREG", "start": 47, "end": 51}], "disease": [{"text": "oral lichen planus", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "These results indicated that TNFAIP3 is a susceptibility gene to SLE both in the Caucasian and Asian populations.", "output": {"entities": {"gene": [{"text": "TNFAIP3", "start": 29, "end": 36}], "disease": [{"text": "SLE", "start": 65, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFAIP3", "start": 29, "end": 36}, "tail": {"text": "SLE", "start": 65, "end": 68}}]}}, "schema": []}
{"input": "Rett syndrome is frequently caused by a mutation in methyl-CpG-binding protein (MECP2) gene, localized on chromosome Xq28, whereas Angelman syndrome is frequently caused by different genetic anomalies at chromosome 15q11-q13 (deletions, uniparental disomy, imprinting center mutations, ubiquitin E3 ligase [UBE3A] gene mutations).", "output": {"entities": {"gene": [{"text": "MECP2", "start": 80, "end": 85}], "disease": [{"text": "uniparental disomy", "start": 237, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Specifically, MRI analysis revealed that the rats in the MSC-BDNF group exhibited more significant recovery from ischemia after 7 and 14 days.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 61, "end": 65}], "disease": [{"text": "ischemia", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "And the inhibitor of HIF-1α is a novel promising therapeutic agent for human SCI-induced edema in the future.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 21, "end": 27}], "disease": [{"text": "edema", "start": 89, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In cystic fibrosis (CF) children, we investigated the predictive impact of glutathione S-transferases (GST) activity and genotypes P1, M1 and T1, and antioxidant levels on stage-severity of Pseudomonas aeruginosa lung infection.", "output": {"entities": {"gene": [{"text": "GST", "start": 103, "end": 106}], "disease": [{"text": "lung infection", "start": 213, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.", "output": {"entities": {"gene": [{"text": "RAB11B", "start": 69, "end": 75}], "disease": [{"text": "Intellectual Disability", "start": 82, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAB11B", "start": 69, "end": 75}, "tail": {"text": "Intellectual Disability", "start": 82, "end": 105}}]}}, "schema": []}
{"input": "The breakpoint of this translocation has been cloned and characterized, and fusion transcript AML1/ETO has been identified.", "output": {"entities": {"gene": [{"text": "AML1", "start": 94, "end": 98}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "CAR and PXR are involved in the development of certain diseases, including diabetes, metabolic syndrome and obesity.", "output": {"entities": {"gene": [{"text": "CAR", "start": 0, "end": 3}], "disease": [{"text": "obesity", "start": 108, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAR", "start": 0, "end": 3}, "tail": {"text": "obesity", "start": 108, "end": 115}}]}}, "schema": []}
{"input": "Finally, we demonstrate reduced POMGnT1 enzymatic activity in transgenic knock-in mice carrying the retrotransposal insertion in the fukutin gene, the prevalent mutation in FCMD.", "output": {"entities": {"gene": [{"text": "fukutin", "start": 133, "end": 140}], "disease": [{"text": "FCMD", "start": 173, "end": 177}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fukutin", "start": 133, "end": 140}, "tail": {"text": "FCMD", "start": 173, "end": 177}}]}}, "schema": []}
{"input": "This raises the question as to whether there is a subset of patients with skin cancer or AK lesions that are highly/more susceptible to local reactions caused by cyclo-oxygenase-2 (COX-2) inhibitors and peroxisome proliferator-activated receptor (PPAR) agonists?", "output": {"entities": {"gene": [{"text": "PPAR", "start": 247, "end": 251}], "disease": [{"text": "skin cancer", "start": 74, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The role of the erythrocyte anion exchanger, band 3 protein (AE1), in the adhesion of Plasmodium falciparum-infected erythrocytes to CD36 and thrombospondin (TSP) was studied.", "output": {"entities": {"gene": [{"text": "TSP", "start": 158, "end": 161}], "disease": [{"text": "adhesion", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Further studies revealed that inhibition of Sp1 expression, TGF-β/Smad3-dependent renal fibrosis, NF-κB-driven renal inflammation, and T-bet/Th1-mediated immune response may be mechanisms associated with miR-29b treatment in db/db mice.", "output": {"entities": {"gene": [{"text": "T-bet", "start": 135, "end": 140}], "disease": [{"text": "renal fibrosis", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Elevated SP-1 transcription factor expression and activity drives basal and hypoxia-induced vascular endothelial growth factor (VEGF) expression in non-small cell lung cancer.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 128, "end": 132}], "disease": [{"text": "hypoxia", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The serotonin transporter gene (SLC6A4, MIM 182138) is a candidate gene in autistic disorder based on neurochemical, neuroendocrine studies and the efficacy of potent serotonin transporter inhibitors in reducing ritualistic behaviors and related aggression.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 4, "end": 25}], "disease": [{"text": "aggression", "start": 246, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "Based on the clinical data, we analyzed the clinical value of varied NER genes and smoking in 219 bladder cancers by the Kaplan-Meier method and Cox proportional hazards regression.", "output": {"entities": {"gene": [{"text": "NER", "start": 69, "end": 72}], "disease": [{"text": "regression", "start": 170, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the RNA binding protein fused in sarcoma/translated in liposarcoma (FUS/TLS) cause amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "RNA binding protein", "start": 17, "end": 36}], "disease": [{"text": "sarcoma", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The findings reported here demonstrate that SN38 (the active metabolite of CPT-11) induces the tyrosine phosphorylation of EGFR within 5 min, followed by the induction of transcripts and/or proteins of the heparin-binding EGF-like growth factor, amphiregulin, transforming growth factor-alpha, and interlukin-8 (IL-8) in AGS gastric cancer cells.", "output": {"entities": {"gene": [{"text": "transforming growth factor-alpha", "start": 260, "end": 292}], "disease": [{"text": "gastric cancer", "start": 325, "end": 339}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "transforming growth factor-alpha", "start": 260, "end": 292}, "tail": {"text": "gastric cancer", "start": 325, "end": 339}}]}}, "schema": []}
{"input": "Here we report single strand conformation polymorphism (SSCP) screening for nine of the most frequent RYR1 mutations using genomic DNA isolated from MHS patients.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 102, "end": 106}], "disease": [{"text": "MHS", "start": 149, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 102, "end": 106}, "tail": {"text": "MHS", "start": 149, "end": 152}}]}}, "schema": []}
{"input": "The present study was designed to investigate the expression of IL-13 gene in the epithelial compartment of the nasal mucosa of patients with perennial allergic rhinitis (PAR) to house dust mite, comparing it with that in the nasal epithelial compartment of chronic infectious rhinitis (CIR) patients and normal volunteers (NV).", "output": {"entities": {"gene": [{"text": "PAR", "start": 171, "end": 174}], "disease": [{"text": "infectious rhinitis", "start": 266, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "The expression of E-cadherin, claudin 4, and ZO-1 was analyzed immuno-histochemically using formalin-fixed, paraffin-embedded tissues obtained from 49 patients who underwent radical resection for advanced gastric cancer.", "output": {"entities": {"gene": [{"text": "ZO-1", "start": 45, "end": 49}], "disease": [{"text": "gastric cancer", "start": 205, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "SH2B3 (LNK) mutations from myeloproliferative neoplasms patients have mild loss of function against wild type JAK2 and JAK2 V617F.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 110, "end": 114}], "disease": [{"text": "mild", "start": 70, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We identified missense mutations and single-codon in-frame deletions in STAT3 in 50 familial and sporadic cases of the hyper-IgE syndrome.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 72, "end": 77}], "disease": [{"text": "hyper-IgE syndrome", "start": 119, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STAT3", "start": 72, "end": 77}, "tail": {"text": "hyper-IgE syndrome", "start": 119, "end": 137}}]}}, "schema": []}
{"input": "In tissue from the second collection, levels of PS2V were markedly elevated in some BP and SZ cases, but there was no overall difference between diagnostic groups.", "output": {"entities": {"gene": [{"text": "PS2V", "start": 48, "end": 52}], "disease": [{"text": "BP", "start": 84, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PS2V", "start": 48, "end": 52}, "tail": {"text": "BP", "start": 84, "end": 86}}]}}, "schema": []}
{"input": "The sarcomas displayed compensatory activation of PERK or phospho-eIF2α independent upregulation of ATF4 in order to maintain ISR signaling, indicating that this pathway is critical for tumorigenesis.", "output": {"entities": {"gene": [{"text": "PERK", "start": 50, "end": 54}], "disease": [{"text": "sarcomas", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Part of the K2e gene was amplified by polymerase chain reaction using genomic DNA from affected and unaffected individuals from two IBS families.", "output": {"entities": {"gene": [{"text": "K2e", "start": 12, "end": 15}], "disease": [{"text": "IBS", "start": 132, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K2e", "start": 12, "end": 15}, "tail": {"text": "IBS", "start": 132, "end": 135}}]}}, "schema": []}
{"input": "Postmortem analysis of sporadic ALS cases also revealed cytoplasmic mislocalization of EWSR1.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 87, "end": 92}], "disease": [{"text": "sporadic", "start": 23, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The effect of lithium, a drug used to treat BP, was also evaluated for its ability to attenuate Nr2e1 (frc/frc) behavioral and neural stem cell-proliferation phenotypes.", "output": {"entities": {"gene": [{"text": "Nr2e1", "start": 96, "end": 101}], "disease": [{"text": "BP", "start": 44, "end": 46}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nr2e1", "start": 96, "end": 101}, "tail": {"text": "BP", "start": 44, "end": 46}}]}}, "schema": []}
{"input": "Three genes (FLJ32642, MTSG1, and PCM1) had a significantly (P < 0. 001, P < 0. 004, and P < 0. 001) lower expression in primary ovarian carcinoma compared with controls (ovarian tissues and cysts).", "output": {"entities": {"gene": [{"text": "PCM1", "start": 34, "end": 38}], "disease": [{"text": "cysts", "start": 191, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Toward that end, we have constructed an oncolytic adenovirus, Ad. dcn, and a nonreplicating adenovirus, Ad (E1-). dcn, both containing the human decorin gene.", "output": {"entities": {"gene": [{"text": "decorin gene", "start": 145, "end": 157}], "disease": [{"text": "adenovirus", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We treated esophageal cancer cells with BPDE before performing methylation-specific polymerase chain reaction (MSP) to find that BPDE induced methylation of the RAR-beta2 gene promoter.", "output": {"entities": {"gene": [{"text": "MSP", "start": 111, "end": 114}], "disease": [{"text": "esophageal cancer", "start": 11, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The mutation in the sulfite oxidase gene responsible for sulfite oxidase deficiency in a 5-year-old girl was identified by sequence analysis of cDNA obtained from fibroblast mRNA to be a guanine to adenine transition at nucleotide 479 resulting in the amino acid substitution of Arg-160 to Gln.", "output": {"entities": {"gene": [{"text": "sulfite oxidase", "start": 20, "end": 35}], "disease": [{"text": "sulfite oxidase deficiency", "start": 57, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sulfite oxidase", "start": 20, "end": 35}, "tail": {"text": "sulfite oxidase deficiency", "start": 57, "end": 83}}]}}, "schema": []}
{"input": "One SNP, rs1121980, and a haplotype of three SNPs in FTO that contains this SNP, might be important in the progression of insulin resistance in Japanese subjects.", "output": {"entities": {"gene": [{"text": "FTO", "start": 53, "end": 56}], "disease": [{"text": "insulin resistance", "start": 122, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Cyclooxygenase-2 inducing Mcl-1-dependent survival mechanism in human lung adenocarcinoma CL1. 0 cells. Involvement of phosphatidylinositol 3-kinase/Akt pathway.", "output": {"entities": {"gene": [{"text": "CL1", "start": 90, "end": 93}], "disease": [{"text": "lung adenocarcinoma", "start": 70, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA.", "output": {"entities": {"gene": [{"text": "POU3F3", "start": 127, "end": 133}], "disease": [{"text": "OA", "start": 242, "end": 244}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POU3F3", "start": 127, "end": 133}, "tail": {"text": "OA", "start": 242, "end": 244}}]}}, "schema": []}
{"input": "To investigate the role of lncRNA MEG3 in the development of cervical cancer, we examined MEG3 expression in 18 pairs of cervical cancer and matched adjacent non-neoplastic tissues.", "output": {"entities": {"gene": [{"text": "MEG3", "start": 34, "end": 38}], "disease": [{"text": "non-neoplastic", "start": 158, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "As well as extending the evidence that glutamatergic abnormalities have a key role in the disorder, this finding draws attention to the behavioural phenotype of Gria1 knockout mice.", "output": {"entities": {"gene": [{"text": "Gria1", "start": 161, "end": 166}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In addition, we demonstrate that while stress increased NMDA NR2B-mediated synaptic transmission, known to be implicated in depression, Reelin overexpression significantly reduced it.", "output": {"entities": {"gene": [{"text": "NR2B", "start": 61, "end": 65}], "disease": [{"text": "depression", "start": 124, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR2B", "start": 61, "end": 65}, "tail": {"text": "depression", "start": 124, "end": 134}}]}}, "schema": []}
{"input": "These results suggest that follicular cells newly express PKR during thyroid carcinogenesis, that PKR is more expressed in papillary carcinoma than in nonpapillary carcinoma, that PKR expression may be associated with high vascular invasion and satellite nodules, and that PKR expression is linked to low cell proliferative activity.", "output": {"entities": {"gene": [{"text": "PKR", "start": 58, "end": 61}], "disease": [{"text": "carcinoma", "start": 133, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.", "output": {"entities": {"gene": [{"text": "angiotensin II receptor type 1", "start": 234, "end": 264}], "disease": [{"text": "renal tubular dysgenesis", "start": 31, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "angiotensin II receptor type 1", "start": 234, "end": 264}, "tail": {"text": "renal tubular dysgenesis", "start": 31, "end": 55}}]}}, "schema": []}
{"input": "Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.", "output": {"entities": {"gene": [{"text": "GALNT3", "start": 19, "end": 25}], "disease": [{"text": "hyperphosphatemic familial tumoral calcinosis", "start": 34, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALNT3", "start": 19, "end": 25}, "tail": {"text": "hyperphosphatemic familial tumoral calcinosis", "start": 34, "end": 79}}]}}, "schema": []}
{"input": "Antioxidant enzymes GSR, SOD1, SOD2, and CAT gene variants and bone mineral density values in postmenopausal women: a genetic association analysis.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 31, "end": 35}], "disease": [{"text": "bone mineral density", "start": 63, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "One such gene target is the bcl-2/immunoglobulin heavy chain (IgH) translocation found in a majority of cases of follicular lymphoma.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 28, "end": 33}], "disease": [{"text": "translocation", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The present findings suggest that the COMT and ALDH3 combination may be the most common type involved in predisposing to schizophrenia.", "output": {"entities": {"gene": [{"text": "ALDH3", "start": 47, "end": 52}], "disease": [{"text": "schizophrenia", "start": 121, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALDH3", "start": 47, "end": 52}, "tail": {"text": "schizophrenia", "start": 121, "end": 134}}]}}, "schema": []}
{"input": "Thus absence or inactivation of pVHL leads to constitutive HIF-1 and HIF-2 expression, which activates transcription of VEGF and other hypoxia-inducible mRNAs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 120, "end": 124}], "disease": [{"text": "hypoxia", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Rats were sacrificed 7 days later, their lymph nodes were collected for evaluation of cellular immunity to beta2GPI and their hearts were removed for assessment of infarct size and for immunohistochemical stains for iNOS and TGF-beta.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 225, "end": 233}], "disease": [{"text": "infarct", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "We related GH1 LCR/promoter SNPs to height, serum insulin-like growth factor 1 (IGF-I) levels and response to GH treatment.", "output": {"entities": {"gene": [{"text": "GH1", "start": 11, "end": 14}], "disease": [{"text": "height", "start": 36, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Moderate weight reduction did not change gene expression levels of GIPR in subcutaneous fat.", "output": {"entities": {"gene": [{"text": "GIPR", "start": 67, "end": 71}], "disease": [{"text": "weight reduction", "start": 9, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "QPD is the first bleeding disorder to be associated with a gene duplication event and a PLAU mutation.", "output": {"entities": {"gene": [{"text": "PLAU", "start": 88, "end": 92}], "disease": [{"text": "QPD", "start": 0, "end": 3}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLAU", "start": 88, "end": 92}, "tail": {"text": "QPD", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "The MTA1 gene has been identified as metastasis-associated gene and has been seen to correlate with the degree of invasion and lymphatic metastasis in gastric, colorectal, and esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "MTA1 gene", "start": 4, "end": 13}], "disease": [{"text": "esophageal", "start": 176, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate here that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by impaired renal acid secretion resulting in metabolic acidosis.", "output": {"entities": {"gene": [{"text": "proton pump", "start": 83, "end": 94}], "disease": [{"text": "metabolic acidosis", "start": 245, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that i) increased flux of cholesterol from HDL into the liver via SR-BI as a result of phospholipase modification of the HDL particle translates neither into increased biliary and fecal sterol output nor into increased gallstone formation, and ii) increased sPLA2 expression in patients with cholesterol gallstones might be a consequence rather than the underlying cause of the disease.", "output": {"entities": {"gene": [{"text": "SR-BI", "start": 89, "end": 94}], "disease": [{"text": "cholesterol gallstones", "start": 315, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).", "output": {"entities": {"gene": [{"text": "ADAR gene", "start": 29, "end": 38}], "disease": [{"text": "sporadic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Virus-mediated shRNA knockdown of prodynorphin in the rat nucleus accumbens attenuates depression-like behavior and cocaine locomotor sensitization.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 34, "end": 46}], "disease": [{"text": "depression", "start": 87, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 34, "end": 46}, "tail": {"text": "depression", "start": 87, "end": 97}}]}}, "schema": []}
{"input": "Sftpc (-/-) mice showed LPS-induced airway goblet cell hyperplasia with increased detection of Sam pointed Ets domain and FoxA3 transcription factors.", "output": {"entities": {"gene": [{"text": "FoxA3", "start": 122, "end": 127}], "disease": [{"text": "hyperplasia", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Prolonged treatment with immunosuppressants including azathioprine (Aza), a thiopurine prodrug, has been suggested as a risk factor for the development of late onset leukemias/lymphomas displaying a microsatellite instability (MSI) phenotype, the hallmark of a defective MMR system.", "output": {"entities": {"gene": [{"text": "MMR", "start": 271, "end": 274}], "disease": [{"text": "microsatellite instability", "start": 199, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "BAY11-7082, a specific inhibitor of NF-κB, reversed the suppression of serum starvation-induced apoptosis by TNF-α.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 109, "end": 114}], "disease": [{"text": "starvation", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Phosphoenolpyruvate carboxykinase (Pck1) helps regulate the triglyceride/fatty acid cycle and development of insulin resistance in mice.", "output": {"entities": {"gene": [{"text": "Pck1", "start": 35, "end": 39}], "disease": [{"text": "insulin resistance", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In a multivariate Cox regression model, EGFR exon 19 deletion was independently predictive of longer PFS (p = 0. 02).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 40, "end": 44}], "disease": [{"text": "regression", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The effect of GSTM1, GSTT1, GSTP1 and GSTA1 gene polymorphisms on predicting overall and specific cardiovascular outcomes (myocardial infarction, MI or stroke) was analyzed using Cox regression model, and differences in survival were determined by Kaplan-Meier.", "output": {"entities": {"gene": [{"text": "GSTA1 gene", "start": 38, "end": 48}], "disease": [{"text": "regression", "start": 183, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Although it is too early to predict the future cognitive performance of the two infant patients with contiguous gene deletions of OPHN1-EFNB1-PJA1, mild learning disabilities have been recognized in the older, third patient.", "output": {"entities": {"gene": [{"text": "PJA1", "start": 142, "end": 146}], "disease": [{"text": "mild", "start": 148, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "MBD4 mutations are rare in gastric carcinomas with microsatellite instability.", "output": {"entities": {"gene": [{"text": "MBD4", "start": 0, "end": 4}], "disease": [{"text": "microsatellite instability", "start": 51, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Elevated levels of the vasocontrictor peptide endothelin-1 have been demonstrated in various pathological conditions that are characterized by sodium retention and/or renal vasoconstriction, such as heart failure, hepatorenal syndrome, renal failure and during administration of cyclosporin and radiocontrast.", "output": {"entities": {"gene": [{"text": "endothelin-1", "start": 46, "end": 58}], "disease": [{"text": "syndrome, renal failure", "start": 226, "end": 249}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "endothelin-1", "start": 46, "end": 58}, "tail": {"text": "syndrome, renal failure", "start": 226, "end": 249}}]}}, "schema": []}
{"input": "Anti-PIT-1 (pituitary-specific transcription factor 1) antibody syndrome is a novel clinical entity that presents an acquired combined pituitary hormone deficiency characterized by a specific defect in growth hormone, prolactin, and thyroid-stimulating hormone.", "output": {"entities": {"gene": [{"text": "pituitary-specific transcription factor 1", "start": 12, "end": 53}], "disease": [{"text": "pituitary hormone deficiency", "start": 135, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In 180 HCC patients who were admitted to Asahikawa Medical College Hospital from 1987 to 1995, 10 patients (6%) had HCC associated with pure alcoholic liver disease (Al-HCC), whereas the HCC in 165 patients was associated with chronic viral liver diseases, in 2 with primary biliary cirrhosis, in 1 each with coexistence of the hepatitis C virus infection and hemochromatosis, and in 2 with cirrhosis of unknown origin.", "output": {"entities": {"gene": [{"text": "HCC", "start": 7, "end": 10}], "disease": [{"text": "liver diseases", "start": 241, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "We show by immunostaining that netrin-1 and Unc5b are expressed in macrophages in hypoxia-rich regions of human and mouse plaques.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 31, "end": 39}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "No experimental evidence has been demonstrated regarding HFD-mediated tumor progression including EMT in CRC so far.", "output": {"entities": {"gene": [{"text": "EMT", "start": 98, "end": 101}], "disease": [{"text": "tumor progression", "start": 70, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "By profiling 108 colorectal samples using exon arrays, we identified nine genes (TCF12, OSBPL1A, TRAK1, ANK3, CHEK1, UGP2, LMO7, ACSL5, and SCIN) showing tumor-specific alternative TSS usage in both adenoma and cancer samples relative to normal mucosa.", "output": {"entities": {"gene": [{"text": "CHEK1", "start": 110, "end": 115}], "disease": [{"text": "adenoma", "start": 199, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to investigate associations between MAOA and MAOB polymorphisms and personality traits of positive and negative emotionality in healthy volunteers, to elucidate mechanisms underlying personality and the risk for depression.", "output": {"entities": {"gene": [{"text": "MAOB", "start": 62, "end": 66}], "disease": [{"text": "personality traits", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Clinical features of the MEN 2A syndrome include medullary thyroid carcinoma (MTC) and/or C-cell hyperplasia (CCH) in almost all affected individuals, pheochromocytoma (approximately 50%) and hyperparathyroidism (HPT) (15-30%).", "output": {"entities": {"gene": [{"text": "HPT", "start": 213, "end": 216}], "disease": [{"text": "medullary thyroid carcinoma", "start": 49, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Combinatorial therapeutic viral delivery of miR-551a and miR-483-5p through single-dose adeno-associated viral (AAV) delivery significantly suppressed colon cancer metastasis, as did CKB inhibition with a small-molecule inhibitor.", "output": {"entities": {"gene": [{"text": "CKB", "start": 183, "end": 186}], "disease": [{"text": "metastasis", "start": 164, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "When we fed the sialic acid precursor N-acetyl-D-mannosamine (ManNAc) to NPHS2-Angptl4 transgenic rats it increased the sialylation of Angptl4 and decreased albuminuria by more than 40%.", "output": {"entities": {"gene": [{"text": "Angptl4", "start": 79, "end": 86}], "disease": [{"text": "albuminuria", "start": 157, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "After multivariate analysis, (adjusting for age, eGFR, baseline mean arterial pressure, contemporary CMR heart rate, total cholesterol, high sensitive C-reactive protein, body mass index and gender) GG genotype was associated with a worse LVEF, and increased LV end-diastolic and systolic index (p = 0. 004, 0. 049 and 0. 009 respectively).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 151, "end": 169}], "disease": [{"text": "heart rate", "start": 105, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The region contains two genes, AHI1 and C6orf217, and both genes-as well as the neighbouring phosphodiesterase 7B (PDE7B)-may be considered candidates for involvement in the genetic aetiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "C6orf217", "start": 40, "end": 48}], "disease": [{"text": "schizophrenia", "start": 195, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C6orf217", "start": 40, "end": 48}, "tail": {"text": "schizophrenia", "start": 195, "end": 208}}]}}, "schema": []}
{"input": "CHD7 deficiency in \" Looper \", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.", "output": {"entities": {"gene": [{"text": "CHD7", "start": 0, "end": 4}], "disease": [{"text": "otosclerosis", "start": 102, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The predictive values of the HPV results in LBC by the different tests for presence of CIN2-3 in follow-up biopsies, and regression in subsequent cones, was assessed.", "output": {"entities": {"gene": [{"text": "LBC", "start": 44, "end": 47}], "disease": [{"text": "regression", "start": 121, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Our result provides the first evidence that PARG inhibitors can ameliorate ischemic brain damage in vivo, in support of PARG as a new therapeutic target for treating ischemia injury.", "output": {"entities": {"gene": [{"text": "PARG", "start": 44, "end": 48}], "disease": [{"text": "ischemia", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking the tumor necrosis factor-alpha receptor 2 (TNFR2) gene fed a high-fat diet gain less weight and display reduced leptin and insulin levels.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor-alpha receptor", "start": 17, "end": 53}], "disease": [{"text": "weight", "start": 99, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In our study, we assessed the expression of DEC1 in 1p aberrant oligodendroglial neoplasms and its association with necrosis and expression of hypoxia-inducible factor 1alpha (HIF-1alpha), carbonic anhydrase-9 (CA9), and vascular endothelial growth factor-mRNA (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 262, "end": 266}], "disease": [{"text": "necrosis", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We conclude that FISH is a practical, useful and reliable method over Southern especially for analysis of N-myc amplification in neuroblastoma, and simultaneous cohybridization with a specific chromosome probe is of great value in predicting the prognosis of patients.", "output": {"entities": {"gene": [{"text": "FISH", "start": 17, "end": 21}], "disease": [{"text": "neuroblastoma", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of NGF is known to mediate inflammation of bladder in this model.", "output": {"entities": {"gene": [{"text": "NGF", "start": 18, "end": 21}], "disease": [{"text": "inflammation of bladder", "start": 42, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NGF", "start": 18, "end": 21}, "tail": {"text": "inflammation of bladder", "start": 42, "end": 65}}]}}, "schema": []}
{"input": "Under hypoxic conditions, induction of CTGF by TGF-beta was repressed.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 47, "end": 55}], "disease": [{"text": "hypoxic", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Compared with the sporadic mismatch repair-defective cohort, MSH6 cases had a lower prevalence of tumor-infiltrating lymphocytes and Crohn-like reactions.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 61, "end": 65}], "disease": [{"text": "sporadic", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "There were no differences in gene expression of EP300, KAT2B, CREBBP, or HDACs 1, 2 and 3 in blood monocytes from subjects with asthma or inflammatory phenotypes of asthma.", "output": {"entities": {"gene": [{"text": "EP300", "start": 48, "end": 53}], "disease": [{"text": "asthma", "start": 128, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 15, "end": 31}], "disease": [{"text": "blind", "start": 181, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Since cardiac hormone-sensitive lipase (HSL) is activated in diabetic mice, we sought to explore a pathophysiological function of cardiac HSL in the development of diabetic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "HSL", "start": 40, "end": 43}], "disease": [{"text": "diabetic cardiomyopathy", "start": 164, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Forced expression of BCAR4 in human ZR-75-1 and MCF7 breast cancer cells resulted in cell proliferation in the absence of estrogen and in the presence of various antiestrogens.", "output": {"entities": {"gene": [{"text": "BCAR4", "start": 21, "end": 26}], "disease": [{"text": "breast cancer", "start": 53, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCAR4", "start": 21, "end": 26}, "tail": {"text": "breast cancer", "start": 53, "end": 66}}]}}, "schema": []}
{"input": "In most human follicular lymphomas, the chromosome translocation t (14; 18) occurs within two breakpoint clustering regions on chromosome 18, the major one at the 3' untranslated region of the bcl-2 gene and the minor one at 3' of the gene.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 193, "end": 203}], "disease": [{"text": "chromosome translocation", "start": 40, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrated the contribution of MIF to the pathogenesis of dengue and pointed to a possible beneficial role of neutralizing MIF as an adjunctive therapeutic approach to treat the severe forms of the disease.", "output": {"entities": {"gene": [{"text": "MIF", "start": 47, "end": 50}], "disease": [{"text": "dengue", "start": 74, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "A de novo balanced translocation t (7; 12) (p21. 2; p12. 3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 123, "end": 128}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Of a total of 20 individuals with mutations in the RYR1 gene, 14 were part of a group of 47 MH susceptible (MHS) patients, 4 of 34 individuals diagnosed as MH equivocal (MHE), and 2 were patients diagnosed with minicore myopathy and CCD, respectively.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 51, "end": 55}], "disease": [{"text": "MHS", "start": 108, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 51, "end": 55}, "tail": {"text": "MHS", "start": 108, "end": 111}}]}}, "schema": []}
{"input": "To establish changes in phototransduction in diabetes, the effects of high glucose on rhodopsin kinase (RK) and transducin (G (t)), as well as recoverin, were examined in the retina of STZ-induced diabetic rats.", "output": {"entities": {"gene": [{"text": "rhodopsin kinase", "start": 86, "end": 102}], "disease": [{"text": "diabetes", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Our findings, combined with evidence from preclinical and animal studies, suggest that HOMER1 plays a role in the etiology of major depression and that the genetic variation affects depression via the dysregulation of cognitive and motivational processes.", "output": {"entities": {"gene": [{"text": "HOMER1", "start": 87, "end": 93}], "disease": [{"text": "major depression", "start": 126, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOMER1", "start": 87, "end": 93}, "tail": {"text": "major depression", "start": 126, "end": 142}}]}}, "schema": []}
{"input": "In vivo therapeutic antitumor efficacy of replication-defective adenovirus (E1 and E3 deleted adenovirus serotype 5) encoding human FIR cDNA (Ad-FIR) was demonstrated in the tumor xenograft model of human esophageal squamous cancer cells, TE-2.", "output": {"entities": {"gene": [{"text": "FIR", "start": 132, "end": 135}], "disease": [{"text": "esophageal", "start": 205, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "In this study, SAK expression was evaluated in a series of sporadic human colorectal cancer specimens (n = 74) and compared with that of PLK.", "output": {"entities": {"gene": [{"text": "PLK", "start": 137, "end": 140}], "disease": [{"text": "sporadic", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome.", "output": {"entities": {"gene": [{"text": "Factor H", "start": 0, "end": 8}], "disease": [{"text": "hemolysis, elevated liver enzymes, and low platelet count", "start": 77, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Factor H", "start": 0, "end": 8}, "tail": {"text": "hemolysis, elevated liver enzymes, and low platelet count", "start": 77, "end": 134}}]}}, "schema": []}
{"input": "We analyzed genetic factors, including 14 single nucleotide polymorphisms (SNPs), environmental risk factors (body mass index, age at menarche, pregnancy, age at first birth, breastfeeding, family history of breast cancer, age at menopause, use of hormone replacement therapy, alcohol intake, and smoking), serum hormones and growth factors (estradiol, testosterone, prolactin, insulin-like growth factor 1 [IGF1] and IGF binding protein 3 [IGFBP3]), and mammographic density in 913 women with breast cancer and 278 disease-free controls.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 408, "end": 412}], "disease": [{"text": "mammographic density", "start": 455, "end": 475}]}, "relations": {}}, "schema": []}
{"input": "In vitro, IL-20 expression increased in hypoxic HaCaT, HEK293 cells, chondrocytes, monocytes, and glioblastoma cells.", "output": {"entities": {"gene": [{"text": "IL-20", "start": 10, "end": 15}], "disease": [{"text": "hypoxic", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Human breast carcinoma cells transfected with the gene encoding a c-myc promoter-binding protein (MBP-1) inhibits tumors in nude mice.", "output": {"entities": {"gene": [{"text": "myc promoter-binding protein", "start": 68, "end": 96}], "disease": [{"text": "tumors", "start": 114, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "However, viral p24 or RNA remained almost always detectable in tissue despite full suppression of HIV-1 RNA in plasma, and increased even after short-term rebounds in plasma viral load.", "output": {"entities": {"gene": [{"text": "p24", "start": 15, "end": 18}], "disease": [{"text": "viral load", "start": 174, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "131 HA-TTR patients from a single referral centre presented at onset five major clinical syndromes: (1) the typical \" Portuguese variant \" axonal polyneuropathy with dissociated (syringomyelic like) sensory loss and autonomic dysfunction; (2) bilateral carpal tunnel syndrome; (3) restless leg syndrome with impotence and unexplained loss of weight; (4) pure motor neuropathy without autonomic abnormalities; (5) recurrent small brain or spinal cord ischemia or haemorrhages with leptomeningeal amyloid deposition (and late superficial siderosis of the central nervous system) and vitreous deposits.", "output": {"entities": {"gene": [{"text": "TTR", "start": 7, "end": 10}], "disease": [{"text": "spinal cord ischemia", "start": 438, "end": 458}]}, "relations": {}}, "schema": []}
{"input": "An international randomized, double-blind, placebo-controlled study was conducted in patients with completely resected IB to IIIA NSCLC whose tumors expressed EGFR protein by immunohistochemistry or EGFR amplification by fluorescence in situ hybridization.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 159, "end": 163}], "disease": [{"text": "blind", "start": 36, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "ARF induced by Cr (6 +) provoked augment in the sodium and glucose urinary looses, increases in occludin quantity (6. 6-and 15-fold on days 2 and 7, respectively) and the mislocation of cln-2.", "output": {"entities": {"gene": [{"text": "occludin", "start": 96, "end": 104}], "disease": [{"text": "ARF", "start": 0, "end": 3}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "occludin", "start": 96, "end": 104}, "tail": {"text": "ARF", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Maternal plasma leptin levels, placental leptin receptor abundance, fetal number, fetal weight, and placental weight were determined.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 41, "end": 56}], "disease": [{"text": "weight", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We report the biochemical characterization of six missense mutations TTP (1) that are found in human AVED patients.", "output": {"entities": {"gene": [{"text": "TTP (1", "start": 69, "end": 75}], "disease": [{"text": "AVED", "start": 101, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTP (1", "start": 69, "end": 75}, "tail": {"text": "AVED", "start": 101, "end": 105}}]}}, "schema": []}
{"input": "We hypothesized that Fox expression is altered in the lungs of the nitrofen-induced CDH rat model and investigated the expression of FoxF1, FoxC2, and FoxO1.", "output": {"entities": {"gene": [{"text": "FoxF1", "start": 133, "end": 138}], "disease": [{"text": "CDH", "start": 84, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FoxF1", "start": 133, "end": 138}, "tail": {"text": "CDH", "start": 84, "end": 87}}]}}, "schema": []}
{"input": "Altered influence of CCK-B/gastrin receptors on HDC expression in ECL cells after neoplastic transformation.", "output": {"entities": {"gene": [{"text": "HDC", "start": 48, "end": 51}], "disease": [{"text": "neoplastic transformation", "start": 82, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the T1521C polymorphism in the GABRA6 gene is associated with specific personality characteristics as well as a marked attenuation in hormonal and blood pressure responses to psychological stress.", "output": {"entities": {"gene": [{"text": "GABRA6 gene", "start": 58, "end": 69}], "disease": [{"text": "blood pressure", "start": 174, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "All bone marrow biopsies of JAK2 (V617F)-mutated CMML showed increased erythropoiesis, a marked myeloid and megakaryocytic hyperplasia with occasionally clustered megakaryocytes, and a mild or moderate (grade 1 or 2) fibrosis; six cases showed an increased number of dilated sinusoids and reactive lymphoid nodules.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 28, "end": 32}], "disease": [{"text": "fibrosis", "start": 217, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "HIF expression was colocalized with regional up-regulation of the hypoxia-inducible genes heme oxygenase-1 and vascular endothelial growth factor (VEGF), and was followed by capillary and tubular proliferation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 147, "end": 151}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of GRP78 and GRP94 are markers for aggressive behavior and poor prognosis in gastric carcinomas.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 18, "end": 23}], "disease": [{"text": "carcinomas", "start": 100, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "We screened 150 women with endometriosis for a polymorphism in a let-7 microRNA (miRNA) binding site in the 3'-UTR of KRAS and detected a KRAS variant allele in 31% of women with endometriosis as opposed to 5% of a large diverse control population.", "output": {"entities": {"gene": [{"text": "UTR", "start": 111, "end": 114}], "disease": [{"text": "endometriosis", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Co-existence of renovascular hypertension, polyarteritis nodosa, antiphospholipid syndrome and methylenetetrahydrofolate reductase mutation.", "output": {"entities": {"gene": [{"text": "methylenetetrahydrofolate reductase", "start": 95, "end": 130}], "disease": [{"text": "polyarteritis nodosa", "start": 43, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "NDP gene mutations in 14 French families with Norrie disease.", "output": {"entities": {"gene": [{"text": "NDP", "start": 0, "end": 3}], "disease": [{"text": "Norrie disease", "start": 46, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDP", "start": 0, "end": 3}, "tail": {"text": "Norrie disease", "start": 46, "end": 60}}]}}, "schema": []}
{"input": "Sequence analysis of the NBS1 gene was performed from PCR products amplified from the DNA of 12 extracranial ML or RT-PCR products amplified from cDNA of 8 primary central nervous system lymphoma.", "output": {"entities": {"gene": [{"text": "NBS1", "start": 25, "end": 29}], "disease": [{"text": "primary central nervous system lymphoma", "start": 156, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Screening of 12 Turkish families with apparently autosomal recessive nonsyndromic sensorineural deafness without GJB2 and mtDNA m. 1555A & gt; G mutations for 11 previously mapped recessive deafness loci showed a family in which hearing loss cosegregated with the DFNB9 (OTOF) locus.", "output": {"entities": {"gene": [{"text": "DFNB9", "start": 264, "end": 269}], "disease": [{"text": "OTOF", "start": 271, "end": 275}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DFNB9", "start": 264, "end": 269}, "tail": {"text": "OTOF", "start": 271, "end": 275}}]}}, "schema": []}
{"input": "In addition, three children with iron refractory iron deficiency anemia, and one sibling with iron responsive iron deficiency anemia were also examined for polymorphisms or sporadic mutations in TMPRSS6.", "output": {"entities": {"gene": [{"text": "TMPRSS6", "start": 195, "end": 202}], "disease": [{"text": "sporadic", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Vandetanib alone caused regression in EGFR + but not EGFR-tumors and RT therapy alone was similar in both tumor types.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 38, "end": 42}], "disease": [{"text": "regression", "start": 24, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "These then accumulate in the nucleus and bind to short DNA sequences called hypoxia-response elements (HREs) near or in such oxygen-sensitive genes as that encoding the pro-angiogenic factor vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 227, "end": 231}], "disease": [{"text": "hypoxia", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In the present study, an adenovirus expressing a triple mutant (TM) of FKHRL1, which cannot be phosphorylated by Akt, was assessed for its ability to induce apoptosis in melanoma cells.", "output": {"entities": {"gene": [{"text": "FKHRL1", "start": 71, "end": 77}], "disease": [{"text": "adenovirus", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Hence, IL-17F may have a crucial role in allergic airway inflammation, and have important therapeutic implications in asthma.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 7, "end": 13}], "disease": [{"text": "inflammation", "start": 57, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The mRNA levels of growth arrest-DNA damage inducible 34 (gadd34), gadd45, and gadd153 genes were, contrary to expectation, not higher in the Se-treated carcinomas than in the gavage or diet restriction control groups.", "output": {"entities": {"gene": [{"text": "gadd34", "start": 58, "end": 64}], "disease": [{"text": "carcinomas", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Our group has observed a lower plasma glucose level in diabetic subjects carrying the low activity ACP1 phenotypes A and BA, and a positive association between these genotypes and body mass index (BMI).", "output": {"entities": {"gene": [{"text": "ACP1", "start": 99, "end": 103}], "disease": [{"text": "body mass index", "start": 180, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "The analysis of nuclear candidate genes revealed mutations in NDUF8 (patient with nystagmus), TULP1 (patient with optic neuropathy, nystagmus and retinopathy) and RP2 (patient with retinopathy) genes.", "output": {"entities": {"gene": [{"text": "RP2", "start": 163, "end": 166}], "disease": [{"text": "optic neuropathy", "start": 114, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetically, synovial sarcoma (SS) is characterized by the translocation t (X; 18) (p11. 2; q11. 2), resulting in a fusion between the SYT gene on chromosome 18 and SSX1 or SSX2 on the X chromosome and the formation of new chimeric genes, SYT-SSX1 or SYT-SSX2.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 177, "end": 181}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "HIF-1alpha was not expressed in benign breast tissue, whereas it was significantly expressed in DH, ADH, DCIS, and IDC (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 0, "end": 10}], "disease": [{"text": "ADH", "start": 100, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIF-1alpha", "start": 0, "end": 10}, "tail": {"text": "ADH", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "Alterations in DNA mismatch repair (MMR) proteins result in microsatellite instability (MSI), increased mutation accumulation at target genes and cancer development.", "output": {"entities": {"gene": [{"text": "MMR", "start": 36, "end": 39}], "disease": [{"text": "microsatellite instability", "start": 60, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The FISH method clearly demonstrated that all patients with the TEL/AML1 fusion had subpopulations of leukemic cells with deletion of the normal TEL allele, which is significant for understanding the progression of leukemia with t (12; 21).", "output": {"entities": {"gene": [{"text": "FISH", "start": 4, "end": 8}], "disease": [{"text": "leukemia", "start": 215, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "In human and experimental models of arterial PH, the Fox protein FoxO1 was found to be downregulated.", "output": {"entities": {"gene": [{"text": "FoxO1", "start": 65, "end": 70}], "disease": [{"text": "PH", "start": 45, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FoxO1", "start": 65, "end": 70}, "tail": {"text": "PH", "start": 45, "end": 47}}]}}, "schema": []}
{"input": "An IL-7 splicing-defect lymphopenia mouse model revealed by genome-wide mutagenesis.", "output": {"entities": {"gene": [{"text": "IL-7", "start": 3, "end": 7}], "disease": [{"text": "lymphopenia", "start": 24, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-7", "start": 3, "end": 7}, "tail": {"text": "lymphopenia", "start": 24, "end": 35}}]}}, "schema": []}
{"input": "Disorders that disturb ubiquitin regulatory signaling include at least two subtypes of Fanconi anemia, the BRCA1 and BRCA2 forms of breast and ovarian cancer susceptibility, incontinentia pigmenti, and cylindromatosis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 117, "end": 122}], "disease": [{"text": "incontinentia pigmenti", "start": 174, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "In sera obtained from 32 patients with different forms of neurological symptoms due to focal cerebral ischemia, secretagogin levels ranged from 3 to 236 pg/ml, with highest levels observed on days 2 and 3 after infarction.", "output": {"entities": {"gene": [{"text": "secretagogin", "start": 112, "end": 124}], "disease": [{"text": "infarction", "start": 211, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Combined pituitary hormone deficiency in this patient is caused by loss of POU1F1 function by two novel mechanisms, namely aberrant splicing (IVS1 + 3nt (A > G) and protein instability (R265W).", "output": {"entities": {"gene": [{"text": "POU1F1", "start": 75, "end": 81}], "disease": [{"text": "pituitary hormone deficiency", "start": 9, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In contrast to the results in a group of 30 RF-positive RA patients, the percentage of patients having at least one of the susceptibility alleles (HLA DR1 or HLA-DR4) was not significantly higher in patients with RF-negative, ANA-positive arthritis than in controls.", "output": {"entities": {"gene": [{"text": "DR1", "start": 151, "end": 154}], "disease": [{"text": "arthritis", "start": 239, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.", "output": {"entities": {"gene": [{"text": "IFT27", "start": 0, "end": 5}], "disease": [{"text": "Bardet-Biedl syndrome", "start": 102, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT27", "start": 0, "end": 5}, "tail": {"text": "Bardet-Biedl syndrome", "start": 102, "end": 123}}]}}, "schema": []}
{"input": "We enrolled 109 consecutive patients with left ventricular systolic dysfunction [left ventricular ejection fraction (LVEF) 32 ± 10%; 86% males; age 65 ± 13 years (mean ± standard deviation)] on optimized adrenergic and renin-angiotensin-aldosterone system (RAAS) antagonism, undergoing clinical and neuroendocrine characterization, and genotyping for six polymorphisms in key RAAS-regulating genes [angiotensinogen (AGT M235T), angiotensin-converting enzyme (ACE-240A > T and I/D), angiotensin II type I receptor (AGTR1 1166A > C), aldosterone synthase (CYP11B2-344C > T) and renin (REN rs7539596)].", "output": {"entities": {"gene": [{"text": "AGTR1", "start": 514, "end": 519}], "disease": [{"text": "left ventricular systolic dysfunction", "start": 42, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Thus a more complete understanding of the functional consequences of androgen receptor mutations may provide a more rational basis for gender assignment in PAIS.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 69, "end": 86}], "disease": [{"text": "PAIS", "start": 156, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 69, "end": 86}, "tail": {"text": "PAIS", "start": 156, "end": 160}}]}}, "schema": []}
{"input": "Stepwise regression indicated three independent signals for BAK1 and TERT, two for SPRY4 and one each for DMRT1, ATF7IP and KITLG.", "output": {"entities": {"gene": [{"text": "SPRY4", "start": 83, "end": 88}], "disease": [{"text": "regression", "start": 9, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Drp1 stabilizes p53 on the mitochondria to trigger necrosis under oxidative stress conditions in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "Drp1", "start": 0, "end": 4}], "disease": [{"text": "necrosis", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Changes in epigenetic regulation of CD4 + T lymphocytesin biliary atresia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 36, "end": 39}], "disease": [{"text": "biliary atresia", "start": 58, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "GDNF is overexpressed in glioblastoma cell lines and human gliomas.", "output": {"entities": {"gene": [{"text": "GDNF", "start": 0, "end": 4}], "disease": [{"text": "gliomas", "start": 59, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GDNF", "start": 0, "end": 4}, "tail": {"text": "gliomas", "start": 59, "end": 66}}]}}, "schema": []}
{"input": "As CRBP1 regulates intracellular retinoic acid (vitamin A) homeostasis, which is involved in morphogenesis, and cellular proliferation and differentiation, the loss of CRBP1 could cause tumorigenesis in BC.", "output": {"entities": {"gene": [{"text": "CRBP1", "start": 3, "end": 8}], "disease": [{"text": "tumorigenesis", "start": 186, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.", "output": {"entities": {"gene": [{"text": "FOXI1", "start": 62, "end": 67}], "disease": [{"text": "Deafness", "start": 13, "end": 21}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FOXI1", "start": 62, "end": 67}, "tail": {"text": "Deafness", "start": 13, "end": 21}}]}}, "schema": []}
{"input": "Four double cortex/X-linked lissencephaly families and three sporadic double cortex patients show independent doublecortin mutations, at least one of them a de novo mutation.", "output": {"entities": {"gene": [{"text": "doublecortin", "start": 110, "end": 122}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The mRNA levels of OGT and MGEA5 genes were determined in 106 squamous cell laryngeal cancer (SCLC) cases and 73 non-cancerous adjacent laryngeal mucosa (NCLM) controls using quantitative real-time PCR.", "output": {"entities": {"gene": [{"text": "MGEA5", "start": 27, "end": 32}], "disease": [{"text": "laryngeal cancer", "start": 76, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Roles of p63 in epidermal development and tumorigenesis.", "output": {"entities": {"gene": [{"text": "p63", "start": 9, "end": 12}], "disease": [{"text": "tumorigenesis", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to assess the c-fos gene and protein expression in pelvic endometriotic implants in comparison to normal endometrium from infertile women.", "output": {"entities": {"gene": [{"text": "fos gene", "start": 49, "end": 57}], "disease": [{"text": "infertile", "start": 155, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In this study we examine the in vivo formation of the Apaf-1/cytochrome c complex and activation of caspase-9 following limbic seizures in the rat.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 61, "end": 73}], "disease": [{"text": "seizures", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Thirty genes, including tumor suppressors or candidates (for example, VHL, RBSP3/CTDSPL, ITGA9, LRRC3B, ALDH1L1, EPHB1) and genes previously unknown as cancer-associated (ABHD5, C3orf77, PRL32, LOC285375, FGD5 and others), showed methylation/deletion in 21-44% of tumors.", "output": {"entities": {"gene": [{"text": "C3orf77", "start": 178, "end": 185}], "disease": [{"text": "cancer", "start": 152, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "This study explored the polymorphisms of TIM3 gene in 535 patients with HBV-related liver diseases including 213 chronic hepatitis, 178 cirrhosis and 144 HCC, 72 HBV infection resolvers and 182 healthy controls and analyzed the effects of these polymorphisms on the disease susceptibility and HCC traits.", "output": {"entities": {"gene": [{"text": "HCC", "start": 154, "end": 157}], "disease": [{"text": "liver diseases", "start": 84, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We describe the development and use of a sensitive reverse transcription-PCR (RT-PCR) procedure to detect novel estrogen-regulated gene expression in small clinical breast cancer samples, in which such study would be extremely difficult by any other molecular or immunocytochemical means.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 112, "end": 135}], "disease": [{"text": "breast cancer", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "No influence of FVL and/or ABO (H) on ante-natal bleeding or intra-partum or postpartum haemorrhage was observed.", "output": {"entities": {"gene": [{"text": "ABO", "start": 27, "end": 30}], "disease": [{"text": "postpartum haemorrhage", "start": 77, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Consistently, the expression levels of IL-17 and IL-21 genes, one of the signature genes for Th17 cells, were significantly up-regulated after hypoxia exposure in the lungs of mice treated with control antibody but not in the lungs of mice treated with MR16-1.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 39, "end": 44}], "disease": [{"text": "hypoxia", "start": 143, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Nuclear localization of N-CoR is a feature of undifferentiated neural stem cells and cytoplasmic translocation of N-CoR leads to astrocytic differentiation.", "output": {"entities": {"gene": [{"text": "N-CoR", "start": 24, "end": 29}], "disease": [{"text": "translocation", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Glioblastoma multiforme expressed higher levels of Angl, but not to the same degree as pseudopalisading astrocytoma cells around necrotic and hypoxic zones expressed VEGF, as shown in previous studies.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 166, "end": 170}], "disease": [{"text": "hypoxic", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "S1P4) and SK1 in cancer, where high expression of these proteins in ER negative breast cancer patient tumours is linked with poor prognosis.", "output": {"entities": {"gene": [{"text": "S1P4", "start": 0, "end": 4}], "disease": [{"text": "cancer", "start": 17, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that in hypoxic pancreatic tumors PKM2 interferes both with NF-κB/p65 and HIF-1α activation that ultimately triggers VEGF-A secretion and subsequent blood vessel formation.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 136, "end": 142}], "disease": [{"text": "hypoxic", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of hypoxia-inducible genes VEGFA, FLT1, VEGFC, HMOX1, and TIE2 was significant in donor airways relative to native airways (all P < 0. 05).", "output": {"entities": {"gene": [{"text": "VEGFC", "start": 54, "end": 59}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "CYBB mutation analysis in X-linked chronic granulomatous disease.", "output": {"entities": {"gene": [{"text": "CYBB", "start": 0, "end": 4}], "disease": [{"text": "X-linked chronic granulomatous disease", "start": 26, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYBB", "start": 0, "end": 4}, "tail": {"text": "X-linked chronic granulomatous disease", "start": 26, "end": 64}}]}}, "schema": []}
{"input": "These results demonstrate biochemical abnormalities of alpha-synuclein, and increased oxidative stress damage and oxidative stress responses in the frontal cortex in PD linked with G2019S LRRK2 mutation not related with the presence of cortical LBs and in the absence of apparent cognitive deficits.", "output": {"entities": {"gene": [{"text": "LRRK2", "start": 188, "end": 193}], "disease": [{"text": "abnormalities", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Transgenic mice (TG) with cardiac specific over-expression of Hsp27 and their wild type littermates (WT) were challenged with doxorubicin (25 mg/kg, IP) to induce HF.", "output": {"entities": {"gene": [{"text": "Hsp27", "start": 62, "end": 67}], "disease": [{"text": "HF", "start": 163, "end": 165}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Hsp27", "start": 62, "end": 67}, "tail": {"text": "HF", "start": 163, "end": 165}}]}}, "schema": []}
{"input": "To stimulate adjuvant-autoantigen fusion protein biosynthesis in the gut mucosae, the authors evaluated oral inoculation of juvenile non-obese diabetic (NOD) mice with recombinant vaccinia virus (rVV) expressing fusion genes encoding CTB linked to the pancreatic islet autoantigens proinsulin (INS) and a 55-kDa C-terminal peptide from glutamate decarboxylase (GAD55).", "output": {"entities": {"gene": [{"text": "CTB", "start": 234, "end": 237}], "disease": [{"text": "obese", "start": 137, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "HDAC1 and HDAC5 protein levels were elevated in lungs from human idiopathic pulmonary arterial hypertension and in lungs and right ventricles from rats exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "HDAC1", "start": 0, "end": 5}], "disease": [{"text": "idiopathic pulmonary arterial hypertension", "start": 65, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC1", "start": 0, "end": 5}, "tail": {"text": "idiopathic pulmonary arterial hypertension", "start": 65, "end": 107}}]}}, "schema": []}
{"input": "The aim of the present study was to evaluate associations between mismatch repair (MMR) status and clinicopathological characteristics and prognosis using immunohistochemistry (IHC) and microsatellite instability (MSI) analyses in a prospective cohort of a large number of accumulated samples.", "output": {"entities": {"gene": [{"text": "MMR", "start": 83, "end": 86}], "disease": [{"text": "microsatellite instability", "start": 186, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Loss of LKB1 and p53 synergizes to alter fallopian tube epithelial phenotype and high-grade serous tumorigenesis.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 8, "end": 12}], "disease": [{"text": "tumorigenesis", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Intravital microscopy analysis showed that leukocyte rolling and adhesion on vascular endothelium was reduced in MMP8 knockout mice.", "output": {"entities": {"gene": [{"text": "MMP8", "start": 113, "end": 117}], "disease": [{"text": "adhesion", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Seven SNPs, spanning about 38 kb, in intron 9 of CTNNA3 were found to show multiple-hit association with LOAD in females, and exhibited more significant association on Mantel-Haenszel test (allelic P-values (MH-F) = 0. 000005945-0. 0007658).", "output": {"entities": {"gene": [{"text": "CTNNA3", "start": 49, "end": 55}], "disease": [{"text": "hit", "start": 84, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We first identified MFG-E8 downregulation in invasive lesions in transgenic mammary tumor models, which were confirmed in LCM-isolated human invasive ductal carcinomas compared with patient-matched normal tissues.", "output": {"entities": {"gene": [{"text": "MFG-E8", "start": 20, "end": 26}], "disease": [{"text": "mammary tumor", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The present study investigated the relationship between the specific polymorphisms of MAO-A, COMT, DRD2, DRD3 and personality traits in Japanese women using a novel genotyping method involving electrochemical DNA array (ECA) chip analysis.", "output": {"entities": {"gene": [{"text": "COMT", "start": 93, "end": 97}], "disease": [{"text": "personality traits", "start": 114, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Therefore, in terms of atherogenesis, apo A-II alters the intermediate HDL metabolism in opposing ways by increasing (LCAT, SR-BI) or decreasing (HL, CETP) the atherogenicity of lipid metabolism.", "output": {"entities": {"gene": [{"text": "SR-BI", "start": 124, "end": 129}], "disease": [{"text": "atherogenesis", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The plasma levels of protein Z were measured using a commercially available enzyme-linked immunosorbent assay in 33 patients with ischemic colitis, 13 patients with diverticulitis, and 33 healthy controls.", "output": {"entities": {"gene": [{"text": "protein Z", "start": 21, "end": 30}], "disease": [{"text": "ischemic colitis", "start": 130, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "PAX2: a reliable marker for nephrogenic adenoma.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 0, "end": 4}], "disease": [{"text": "nephrogenic adenoma", "start": 28, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that if BCL2 deregulation does indeed occur in MM, a mechanism other than translocation must be involved in most cases.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 30, "end": 34}], "disease": [{"text": "translocation", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The V22G mutation of Unc119 represents a novel genetic defect in ICL.", "output": {"entities": {"gene": [{"text": "Unc119", "start": 21, "end": 27}], "disease": [{"text": "ICL", "start": 65, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Unc119", "start": 21, "end": 27}, "tail": {"text": "ICL", "start": 65, "end": 68}}]}}, "schema": []}
{"input": "MicroRNA-30c-2 * expressed in ovarian cancer cells suppresses growth factor-induced cellular proliferation and downregulates the oncogene BCL9.", "output": {"entities": {"gene": [{"text": "BCL9", "start": 138, "end": 142}], "disease": [{"text": "ovarian cancer", "start": 30, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCL9", "start": 138, "end": 142}, "tail": {"text": "ovarian cancer", "start": 30, "end": 44}}]}}, "schema": []}
{"input": "In SCCHN disruption of the TP53 gene and overrepresentation of certain p63 isoforms has been seen, indicating that this could lead to neoplastic transformation.", "output": {"entities": {"gene": [{"text": "p63", "start": 71, "end": 74}], "disease": [{"text": "neoplastic transformation", "start": 134, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Moreover, concerning the stage of the coexisted liver diseases, in NBNC CLD, LC patients with HCC is 19 of 26 (73. 1%), on the other hand, LC patients without HCC is 16 of 34 (47. 1%).", "output": {"entities": {"gene": [{"text": "HCC", "start": 94, "end": 97}], "disease": [{"text": "liver diseases", "start": 48, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Here, we have identified an epileptic encephalopathy additionally featuring cerebral calcifications and coarse facial features caused by recessive loss-of-function mutations in DENND5A.", "output": {"entities": {"gene": [{"text": "DENND5A", "start": 177, "end": 184}], "disease": [{"text": "epileptic encephalopathy", "start": 28, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DENND5A", "start": 177, "end": 184}, "tail": {"text": "epileptic encephalopathy", "start": 28, "end": 52}}]}}, "schema": []}
{"input": "Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, motor disorders, and mental disorders.", "output": {"entities": {"gene": [{"text": "NDP", "start": 36, "end": 39}], "disease": [{"text": "motor disorders", "start": 191, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.", "output": {"entities": {"gene": [{"text": "CCDC151", "start": 0, "end": 7}], "disease": [{"text": "primary ciliary dyskinesia", "start": 24, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC151", "start": 0, "end": 7}, "tail": {"text": "primary ciliary dyskinesia", "start": 24, "end": 50}}]}}, "schema": []}
{"input": "We found that radixin shRNA caused down-regulation of radixin in PANC-1 cells, associated with inhibition of pancreatic cancer cell proliferation, survival, adhesion and invasive potential in vitro.", "output": {"entities": {"gene": [{"text": "radixin", "start": 14, "end": 21}], "disease": [{"text": "adhesion", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "In light of our recent findings and to investigate the potential interaction between Wnt and ILK proteins during mammary tumor formation and progression, we established a transgenic mouse model that expresses both Wnt and ILK in mammary epithelial cells.", "output": {"entities": {"gene": [{"text": "ILK", "start": 93, "end": 96}], "disease": [{"text": "mammary tumor", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study is to examine rs4680 (COMT) and rs6265 (BDNF) as genetic markers of anxiety, ADHD, and tics.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 61, "end": 65}], "disease": [{"text": "tics", "start": 108, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Compound C, an inhibitor of AMPK, suppressed the expressions of AM and VEGF which had already been enhanced under glucose-deprived hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 71, "end": 75}], "disease": [{"text": "hypoxic", "start": 131, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "There are synergistic joint interactions of ATM genotyping with smoking, alcohol drinking, and betel quid chewing.", "output": {"entities": {"gene": [{"text": "ATM", "start": 44, "end": 47}], "disease": [{"text": "alcohol drinking", "start": 73, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "As shown previously in other cell types, mRNA levels for vascular endothelial growth factor (VEGF) and glucose transporter 1 (GLUT-1) were up-regulated by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 93, "end": 97}], "disease": [{"text": "hypoxia", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "We investigated 12 neuroblastoma patients for MYCN amplification and chromosome 2 aneusomy by fluorescence in situ hybridization (FISH) and results were correlated with conventional cytogenetics.", "output": {"entities": {"gene": [{"text": "FISH", "start": 130, "end": 134}], "disease": [{"text": "neuroblastoma", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear.", "output": {"entities": {"gene": [{"text": "cytoskeletal protein", "start": 145, "end": 165}], "disease": [{"text": "congenital cataract", "start": 310, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "Frequencies of-2548G > A LEP (rs7799039), Q223R (rs1137101) and K656N (rs8129183) LEPR, and-11377C > G (rs266729) and-11426A > G (rs16861194) ADIPOQ polymorphisms were analyzed by restriction fragment length polymorphism in 101 obese (standard deviation score [SDS]-body mass index [BMI] > 2) and 67 normal-weight (SDS-BMI <-1 + 1 >) children.", "output": {"entities": {"gene": [{"text": "ADIPOQ", "start": 142, "end": 148}], "disease": [{"text": "weight", "start": 307, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Several studies claim that prothrombin 20210GA and factor V Leiden mutations are related to arterial thrombosis.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 51, "end": 66}], "disease": [{"text": "arterial thrombosis", "start": 92, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "At 4 weeks after SE, SRIF1-family (SSTR 2A, SSTR2B, and SSTR5) immunoreactivity was increased only in neuropil.", "output": {"entities": {"gene": [{"text": "SSTR5", "start": 56, "end": 61}], "disease": [{"text": "SE", "start": 17, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SSTR5", "start": 56, "end": 61}, "tail": {"text": "SE", "start": 17, "end": 19}}]}}, "schema": []}
{"input": "The goal of the present study was to identify the intracellular mediators responsible for the IGF-I anti-atrophic action in GC-induced muscle atrophy.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 94, "end": 99}], "disease": [{"text": "muscle atrophy", "start": 135, "end": 149}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGF-I", "start": 94, "end": 99}, "tail": {"text": "muscle atrophy", "start": 135, "end": 149}}]}}, "schema": []}
{"input": "Patients having the rs1974226 GG genotype were more susceptible to Gram-positive infection, compared to AG/AA genotype in the two cohorts of severe sepsis (SPH, P = 0. 0036, odds ratio (OR) 2. 19, 95% confidence interval (CI) 1. 28-3. 72; VASST, P = 0. 011, OR 1. 95, 95% CI 1. 16-3. 27) and in the subgroup having lung infection (P = 0. 017, OR 1. 90, 95% CI 1. 12-3. 21).", "output": {"entities": {"gene": [{"text": "SPH", "start": 156, "end": 159}], "disease": [{"text": "severe sepsis", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.", "output": {"entities": {"gene": [{"text": "PSD95", "start": 40, "end": 45}], "disease": [{"text": "bipolar disorder", "start": 73, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD95", "start": 40, "end": 45}, "tail": {"text": "bipolar disorder", "start": 73, "end": 89}}]}}, "schema": []}
{"input": "Cardiac-specific overexpression of MED13 or pharmacologic inhibition of miR-208a in mice confers resistance to high-fat diet-induced obesity and improves systemic insulin sensitivity and glucose tolerance.", "output": {"entities": {"gene": [{"text": "MED13", "start": 35, "end": 40}], "disease": [{"text": "insulin sensitivity", "start": 163, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "We also find that Fgd1 is expressed in human prostate and breast cancer as opposed to normal tissue and that expression levels matched tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "Fgd1", "start": 18, "end": 22}], "disease": [{"text": "aggressiveness", "start": 141, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Using real-time quantitative PCR and in situ hybridization, we showed that the expression of DLL4 was up-regulated within the vasculature of clear cell-renal cell carcinoma almost 9-fold more than normal kidney and was correlated with the expression of vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "DLL4", "start": 93, "end": 97}], "disease": [{"text": "renal cell carcinoma", "start": 152, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we were able to reproduce previously found associations between PPP1R13L and CD3EAP polymorphisms and lung cancer risk in an increased study group, and we found interactions between NFKB1 rs28362491-PPP1R13L rs1970764 and smoking duration and between CD3EAP rs735482 and smoking duration.", "output": {"entities": {"gene": [{"text": "CD3EAP", "start": 92, "end": 98}], "disease": [{"text": "smoking", "start": 237, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "LIPH expression was also observed less frequently in the squamous lung cancer tissue samples.", "output": {"entities": {"gene": [{"text": "LIPH", "start": 0, "end": 4}], "disease": [{"text": "lung cancer", "start": 66, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "This study examined the association of demographic, clinical and biological factors (IL-1alpha, IL-1beta, IL-1RA, IL-6, TNF-alpha, IFN-gamma, LIF, IGF-I, APOE genotype) with the presence and severity of delirium.", "output": {"entities": {"gene": [{"text": "LIF", "start": 142, "end": 145}], "disease": [{"text": "delirium", "start": 203, "end": 211}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LIF", "start": 142, "end": 145}, "tail": {"text": "delirium", "start": 203, "end": 211}}]}}, "schema": []}
{"input": "The mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) were lower in Group I. Globin analysis in 30 of these subjects showed that 20 had four, eight had three, and two had two alpha-globin genes.", "output": {"entities": {"gene": [{"text": "MCH", "start": 68, "end": 71}], "disease": [{"text": "mean corpuscular volume", "start": 4, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Second, four of these genes (GNL3, MAT1A, SKA3, and ZMYM5) harbored SNPs associated with aggressive tumorigenesis in the PLCO/CGEMS GWAS of 1172 PC patients.", "output": {"entities": {"gene": [{"text": "GNL3", "start": 29, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "WAY-202196, a selective estrogen receptor-beta agonist, protects against death in experimental septic shock.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 24, "end": 41}], "disease": [{"text": "septic shock", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.", "output": {"entities": {"gene": [{"text": "NDP", "start": 26, "end": 29}], "disease": [{"text": "Norrie disease", "start": 76, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDP", "start": 26, "end": 29}, "tail": {"text": "Norrie disease", "start": 76, "end": 90}}]}}, "schema": []}
{"input": "Each A allele of FTO was associated with 0. 35 +/-0. 13 kg more fat mass at 13 y and each 1 kJ/g DED at 10 y was associated with 0. 16 +/-0. 06 kg more fat mass at age 13 y, after controlling for misreporting of energy intake, gender, puberty, overweight status at 10 y, maternal education, TV watching, and physical activity.", "output": {"entities": {"gene": [{"text": "FTO", "start": 17, "end": 20}], "disease": [{"text": "overweight", "start": 244, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "In cultured neonatal cardiac myocytes, adenovirus-mediated Phactr1 overexpression for 48 hours markedly increased the skeletal α-actin to cardiac α-actin ratio, this being associated with an enhanced DNA binding activity of serum response factor.", "output": {"entities": {"gene": [{"text": "serum response factor", "start": 224, "end": 245}], "disease": [{"text": "adenovirus", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "FISH analyses for alterations in chromosomes 1, 2, 3, and 11 define high-risk groups in neuroblastoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "neuroblastoma", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "To test for a position effect on 18p11 sequences translocated to 21p11, we performed quantitative RT-PCR to measure the expression of the candidate gene C18orf1 in translocation carriers, but found no significant differences from controls in lymphoblastoid cells.", "output": {"entities": {"gene": [{"text": "C18orf1", "start": 153, "end": 160}], "disease": [{"text": "translocation", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "CYP2E1-dependent and leptin-mediated hepatic CD57 expression on CD8 + T cells aid progression of environment-linked nonalcoholic steatohepatitis.", "output": {"entities": {"gene": [{"text": "CD57", "start": 45, "end": 49}], "disease": [{"text": "nonalcoholic steatohepatitis", "start": 116, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD57", "start": 45, "end": 49}, "tail": {"text": "nonalcoholic steatohepatitis", "start": 116, "end": 144}}]}}, "schema": []}
{"input": "Humans with ankyrin-B mutations display varying degrees of cardiac dysfunction including bradycardia, sinus arrhythmia, idiopathic ventricular fibrillation, catecholaminergic polymorphic ventricular tachycardia, and risk of sudden death.", "output": {"entities": {"gene": [{"text": "ankyrin-B", "start": 12, "end": 21}], "disease": [{"text": "idiopathic ventricular fibrillation", "start": 120, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The single LGI1 mutation identified in this study is a novel missense variant (NM_005097. 2: c. 1013T > C; p. Phe338Ser) observed de novo in a sporadic patient.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 11, "end": 15}], "disease": [{"text": "sporadic", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Significant higher expression (P < 0. 05) of Interferon-gamma, IL-12, IL-23 and GM-CSF were found in Inc-stimulated CD4 enriched cervical cells of CT-positive fertile women and contrastingly high IL-1 Beta, IL-4, IL-5, IL-6 and IL-10 levels were found in CT-positive infertile women.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 219, "end": 223}], "disease": [{"text": "infertile", "start": 267, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "When autocrine activation was induced with HGF-expressing adenovirus, E-cadherin and Desmoglein 1 were decreased in melanocytes, WM164 and WM35.", "output": {"entities": {"gene": [{"text": "Desmoglein 1", "start": 85, "end": 97}], "disease": [{"text": "adenovirus", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The expression of MUC4, a high-molecular-weight and highly glycosylated protein, has been studied in many cancers.", "output": {"entities": {"gene": [{"text": "MUC4", "start": 18, "end": 22}], "disease": [{"text": "weight", "start": 41, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In infected cells, poly (ADP-ribose) polymerase 1 (PARP-1), a DNA repair enzyme that also regulates HMGB1 translocation, was found to be cleaved into fragments that correspond to a necrosis like pattern of PARP-1 degradation.", "output": {"entities": {"gene": [{"text": "DNA repair enzyme", "start": 62, "end": 79}], "disease": [{"text": "necrosis", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Females with the MECP2 mutations exhibit a broad spectrum of clinical presentations ranging from classical Rett syndrome to asymptomatic carriers, which can be explained by differences in X chromosome inactivation (XCI).", "output": {"entities": {"gene": [{"text": "MECP2", "start": 17, "end": 22}], "disease": [{"text": "asymptomatic", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Here, we report a de novo heterozygous mutation in NALCN affecting a conserved residue (p. R1181Q) in a girl with ID, episodic and persistent ataxia, and arthrogryposis.", "output": {"entities": {"gene": [{"text": "NALCN", "start": 51, "end": 56}], "disease": [{"text": "ataxia", "start": 142, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Influence of genistein on c-Jun, c-Fos and Fos-B of AP-1 subunits expression in skin keratinocytes, fibroblasts and keloid fibroblasts cultured in vitro.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 52, "end": 56}], "disease": [{"text": "keloid", "start": 116, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In vitro induction of myeloid leukemia-specific CD4 and CD8 T cells by CD40 ligand-activated B cells gene modified to express primary granule proteins.", "output": {"entities": {"gene": [{"text": "CD4", "start": 48, "end": 51}], "disease": [{"text": "myeloid leukemia", "start": 22, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of RLIP76 expression in U87 and U251 glioma cell lines by stable transfection of a targeted siRNA suppressed anchorage-independent growth and enhanced apoptosis in vitro.", "output": {"entities": {"gene": [{"text": "U87", "start": 35, "end": 38}], "disease": [{"text": "glioma", "start": 48, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Two novel mutations (HBG1: c.-250C & gt; T and HBG2: c.-250C & gt; T) associated with hereditary persistence of fetal hemoglobin.", "output": {"entities": {"gene": [{"text": "HBG1", "start": 21, "end": 25}], "disease": [{"text": "hereditary persistence of fetal hemoglobin", "start": 86, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HBG1", "start": 21, "end": 25}, "tail": {"text": "hereditary persistence of fetal hemoglobin", "start": 86, "end": 128}}]}}, "schema": []}
{"input": "BRCA1-associated protein-1 (BAP1) mutations cause a new cancer syndrome, with a high rate of malignant mesothelioma (MM).", "output": {"entities": {"gene": [{"text": "BRCA1-associated protein", "start": 0, "end": 24}], "disease": [{"text": "malignant mesothelioma", "start": 93, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that mammary epithelial disruption of ILK results in a profound block in mammary tumor induction.", "output": {"entities": {"gene": [{"text": "ILK", "start": 52, "end": 55}], "disease": [{"text": "mammary tumor", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "X-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin.", "output": {"entities": {"gene": [{"text": "phosphoinositide lipid phosphatase", "start": 127, "end": 161}], "disease": [{"text": "neuromuscular disease", "start": 47, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In vitro, C5aR on leukocytes is required for effective transendothelial migration but not adhesion.", "output": {"entities": {"gene": [{"text": "C5aR", "start": 10, "end": 14}], "disease": [{"text": "adhesion", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "A discriminant function of four miRNAs (miR-140-5p, miR-423-5p, miR-195, and miR-126) was specific for T2D with an accuracy of 89. 2% (P & lt; 0. 0001).", "output": {"entities": {"gene": [{"text": "miR-195", "start": 64, "end": 71}], "disease": [{"text": "T2D", "start": 103, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-195", "start": 64, "end": 71}, "tail": {"text": "T2D", "start": 103, "end": 106}}]}}, "schema": []}
{"input": "Myelin transcription factor 1-like (MYT1L) is a member of the myelin transcription factor 1 (MYT1) gene family, and the neural specific, zinc-finger-containing, DNA-binding protein that it encodes plays a role in the development of the nervous system.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 161, "end": 180}], "disease": [{"text": "nervous system", "start": 236, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the poor response of patients with CD34 + leukemia cells could be at least partially due to less chemotherapy-induced apoptosis resulting from protection by SCF as an adjuvant mechanism for drug resistance in myeloid leukemia.", "output": {"entities": {"gene": [{"text": "SCF", "start": 184, "end": 187}], "disease": [{"text": "leukemia", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In a Chinese cohort consisting of 2013 sporadic PD patients and 1971 controls, we investigated the modification of the two Asian-specific LRRK2 variants, G2385R and R1628P, by variants of five other PD-associated genes/loci (SNCA, MAPT, GBA, BST1, PARK16).", "output": {"entities": {"gene": [{"text": "PARK16", "start": 248, "end": 254}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Mice were given paracetamol (600 mg/kg) enterally 2 days after adenovirus-mediated gene transfer of EC-SOD (2 x 10 (9) pfu).", "output": {"entities": {"gene": [{"text": "EC-SOD", "start": 100, "end": 106}], "disease": [{"text": "adenovirus", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Recently, genetic disruption of COX-1, the other isoform, was shown to decrease the number of intestinal polyps and prostaglandin E (2) levels in intestinal mucosa, like the case with COX-2 gene disruption, in Min mice.", "output": {"entities": {"gene": [{"text": "COX-1", "start": 32, "end": 37}], "disease": [{"text": "intestinal polyps", "start": 94, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-1", "start": 32, "end": 37}, "tail": {"text": "intestinal polyps", "start": 94, "end": 111}}]}}, "schema": []}
{"input": "RALA and RALB GTPases lie downstream of RAS and are implicated in RAS-mediated tumorigenesis.", "output": {"entities": {"gene": [{"text": "RALA", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Potential of reduction in total tumor volume measured with 3D-MRI as a prognostic factor for locally-advanced breast cancer patients treated with primary chemotherapy.", "output": {"entities": {"gene": [{"text": "MRI", "start": 62, "end": 65}], "disease": [{"text": "breast cancer", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these recent data suggest that increased HIF-1 activity provides a molecular basis for VEGF-induced angiogenesis and other adaptations of cancer cells to hypoxia that are critical for establishment of a primary tumor and its progression to the lethal phenotype.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 103, "end": 107}], "disease": [{"text": "hypoxia", "start": 170, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "FUsed in sarcoma (FUS) is a multifunctional DNA/RNA-binding protein that possesses diverse roles, such as RNA splicing, RNA transport, DNA repair, translation, and transcription.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 48, "end": 67}], "disease": [{"text": "sarcoma", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "We detected hypoxia-inducible factor 1alpha (HIF-1alpha)-dependent induction of expression of the gene encoding netrin-1 (Ntn1) in hypoxic epithelia.", "output": {"entities": {"gene": [{"text": "Ntn1", "start": 122, "end": 126}], "disease": [{"text": "hypoxic", "start": 131, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "A significant correlation was found between the ACE mRNA gene expression and the mean blood pressure, serum creatinine, blood urea nitrogen and 24-h urinary protein.", "output": {"entities": {"gene": [{"text": "ACE", "start": 48, "end": 51}], "disease": [{"text": "mean blood pressure", "start": 81, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that hypoxia reduced vascular endothelial growth factor C (VEGF-C) transcription and cap-dependent translation via the upregulation of hypophosphorylated 4E-binding protein 1 (4E-BP1).", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor C", "start": 35, "end": 71}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "As a result, BRCA1 mutations often result in defective DNA repair, genomic instability and sensitivity to DNA damaging agents.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 13, "end": 18}], "disease": [{"text": "genomic instability", "start": 67, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The novel partner gene was identified as HCMOGT-1 using 5'-rapid amplification of cDNA ends; fluorescence in situ hybridization and reverse transcriptase-PCR analyses confirmed that the translocation resulted in PDGFRB/HCMOGT-1 fusion.", "output": {"entities": {"gene": [{"text": "HCMOGT-1", "start": 41, "end": 49}], "disease": [{"text": "translocation", "start": 186, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Although the presence of RET mutations in group I families is sufficient to explain HSCR inheritance, a genome scan reveals a new susceptibility locus on 9q31 exclusively in group II families.", "output": {"entities": {"gene": [{"text": "RET", "start": 25, "end": 28}], "disease": [{"text": "HSCR", "start": 84, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 25, "end": 28}, "tail": {"text": "HSCR", "start": 84, "end": 88}}]}}, "schema": []}
{"input": "Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 27, "end": 48}], "disease": [{"text": "Fabry disease", "start": 79, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 27, "end": 48}, "tail": {"text": "Fabry disease", "start": 79, "end": 92}}]}}, "schema": []}
{"input": "In this study, the presence of T/A mutation at position-874 in IFN-gamma gene was assessed in patients with latent autoimmune diabetes of adults (LADA), in patients with type 2 diabetes and in healthy individuals.", "output": {"entities": {"gene": [{"text": "IFN", "start": 63, "end": 66}], "disease": [{"text": "latent autoimmune diabetes of adults", "start": 108, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "IL-28B rs12979860 C/T polymorphism T allele is more prevalent in patients with viral cirrhosis due to HCV in comparison to other aetiologies and to patients with mild chronic hepatitis C. Among OLT patients, carriage of this allele seems to augment the risk of developing HCC.", "output": {"entities": {"gene": [{"text": "IL-28B", "start": 0, "end": 6}], "disease": [{"text": "mild", "start": 162, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "To explore the association between the genetic variant of E-cadherin gene and endometriosis-related infertility.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 58, "end": 68}], "disease": [{"text": "infertility", "start": 100, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "As expected, a progressive increase of mutant allele burden was observed from essential thrombocythemia (ET) to polycythemia vera (PV) and primary myelofibrosis (PMF) to secondary myelofibrosis (SMF).", "output": {"entities": {"gene": [{"text": "SMF", "start": 195, "end": 198}], "disease": [{"text": "polycythemia vera", "start": 112, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Our previous studies demonstrated that mutant KRAS alleles can interact with hypoxia to induce vascular endothelial growth factor (VEGF) in colon cancer.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 131, "end": 135}], "disease": [{"text": "hypoxia", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "To observe the expressions of mRNA and protein for the CCR2 in cerebral tissue with experimental hypoxic-ischemic brain damage (HIBD) to newborn rat.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 55, "end": 59}], "disease": [{"text": "hypoxic", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "As the clinical diagnosis was LAEB, DSP mutation analysis was performed.", "output": {"entities": {"gene": [{"text": "DSP", "start": 36, "end": 39}], "disease": [{"text": "LAEB", "start": 30, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DSP", "start": 36, "end": 39}, "tail": {"text": "LAEB", "start": 30, "end": 34}}]}}, "schema": []}
{"input": "Next, we used ultraviolet (UV) and serum starvation-induced apoptosis models to investigate whether NS suppression or up-regulation affects HCC cell apoptosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 140, "end": 143}], "disease": [{"text": "starvation", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "By activating specific receptors (likely AM2) and the PI3K/Akt/GSK3beta signaling pathway, AM could play a significant role in long-lasting heat hypersensitivity and inflammatory heat hyperalgesia.", "output": {"entities": {"gene": [{"text": "AM2", "start": 41, "end": 44}], "disease": [{"text": "hyperalgesia", "start": 184, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Placental expression of AQP9 related to expression of the phospholipase ENPP2 which was positively associated with infant birth weight (coefficient estimate: 0. 28; 95% CI: 0. 09-0. 47).", "output": {"entities": {"gene": [{"text": "ENPP2", "start": 72, "end": 77}], "disease": [{"text": "birth weight", "start": 122, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ENPP2", "start": 72, "end": 77}, "tail": {"text": "birth weight", "start": 122, "end": 134}}]}}, "schema": []}
{"input": "In minimal change nephrotic syndrome, a relationship with HLA-DR3, DR7, DR3/7 and DQ2 was found.", "output": {"entities": {"gene": [{"text": "DR3", "start": 62, "end": 65}], "disease": [{"text": "minimal change nephrotic syndrome", "start": 3, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Annual MRI and mammography is recommended for BRCA1/2 mutation carriers to reduce breast cancer mortality.", "output": {"entities": {"gene": [{"text": "MRI", "start": 7, "end": 10}], "disease": [{"text": "breast cancer", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "However, advanced plaques in SMP8/Apoe (-/-) mice displayed several features of plaque stability, including increased fibrous cap area, α-smooth muscle actin-positive SMC and collagen content, and reduced necrotic cores.", "output": {"entities": {"gene": [{"text": "SMC", "start": 167, "end": 170}], "disease": [{"text": "plaque", "start": 18, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Subsequently, we generated an adenovirus containing the HMGA2 gene in the antisense orientation (Ad-A2as) to study the effect of HMGA2 protein suppression in ALT cells.", "output": {"entities": {"gene": [{"text": "HMGA2 gene", "start": 56, "end": 66}], "disease": [{"text": "adenovirus", "start": 30, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "These data provide initial guidelines for the timing of prophylactic thyroidectomy in asymptomatic carriers of RET gene mutations.", "output": {"entities": {"gene": [{"text": "RET gene", "start": 111, "end": 119}], "disease": [{"text": "asymptomatic", "start": 86, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The interaction of platelets with leukocytes is mainly determined by the proteins encoded by six genes: P-Selectin (SELP encodes CD62P) on the thrombocyte binding to P-Selectin-Glycoprotein-Ligand-1 (PSGL1) on the leukocyte, intracellular-adhesion-molecule 2 (ICAM2) interacting with Integrin alpha M (ITGAM) and Glycoprotein 1b-alpha (GP1BA) binding to Integrin alpha L (ITGAL).", "output": {"entities": {"gene": [{"text": "GP1BA", "start": 336, "end": 341}], "disease": [{"text": "adhesion", "start": 239, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "The function of MR1 is unknown, but the 2 mutations identified in the 4 families with PNKD studied to date are predicted to disrupt the amino terminal alpha-helix suggesting that this region of the gene is critical for proper gene function under stressful conditions.", "output": {"entities": {"gene": [{"text": "MR1", "start": 16, "end": 19}], "disease": [{"text": "PNKD", "start": 86, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MR1", "start": 16, "end": 19}, "tail": {"text": "PNKD", "start": 86, "end": 90}}]}}, "schema": []}
{"input": "Results from our family-based and case-control association study suggest that there is no association between the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia.", "output": {"entities": {"gene": [{"text": "SMARCA2", "start": 155, "end": 162}], "disease": [{"text": "schizophrenia", "start": 167, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMARCA2", "start": 155, "end": 162}, "tail": {"text": "schizophrenia", "start": 167, "end": 180}}]}}, "schema": []}
{"input": "However, when Pemt (-/-) mice were fed a choline-deficient diet steatohepatitis and liver failure developed after 3 days.", "output": {"entities": {"gene": [{"text": "Pemt", "start": 14, "end": 18}], "disease": [{"text": "liver failure", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Activation-induced cytidine deaminase in antibody diversification and chromosome translocation.", "output": {"entities": {"gene": [{"text": "Activation-induced cytidine deaminase", "start": 0, "end": 37}], "disease": [{"text": "chromosome translocation", "start": 70, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Mutational analyses of epidermal growth factor receptor and downstream pathways in adrenocortical carcinoma.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 23, "end": 55}], "disease": [{"text": "adrenocortical carcinoma", "start": 83, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "epidermal growth factor receptor", "start": 23, "end": 55}, "tail": {"text": "adrenocortical carcinoma", "start": 83, "end": 107}}]}}, "schema": []}
{"input": "FSTL1, AV722783, SLC15A1, DDX17, ORC2L and PKMYT1 were found to be potential ccRCC metastasis-associated novel genes, according to expression patterns in cultures and tumor tissues.", "output": {"entities": {"gene": [{"text": "ORC2L", "start": 33, "end": 38}], "disease": [{"text": "tumor", "start": 167, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "This study evaluates the possible role of two described bi-allelic polymorphisms in the TNF locus [a G to A transition at position-308 in the 5'-promoter region of the TNF-alpha gene and an NcoI restriction fragment length polymorphism (RFLP) in the first intron (+ 252A/G) of the LT-alpha (TNF-beta) gene] in atopic diseases in a Czech population.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 168, "end": 177}], "disease": [{"text": "atopic", "start": 310, "end": 316}]}, "relations": {}}, "schema": []}
{"input": "Expression of histamine and histamine receptors (H1R, H2R) was analysed on protein level (immunohistochemistry/immunofluorescence (IF)) as well as mRNA level (reverse transcription-PCR (RT-PCR) in surgical specimen of patients (n = 101) having undergone resection for sigmoid diverticulits (n = 57 complicated diverticulitis/n = 44 non-complicated diverticulitis).", "output": {"entities": {"gene": [{"text": "H1R", "start": 49, "end": 52}], "disease": [{"text": "diverticulitis", "start": 310, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "To investigate in vivo inner and outer retinal microstructure and effects of structural abnormalities on visual function in patients with retinal degeneration caused by ABCA4 mutations (ABCA4-RD).", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 169, "end": 174}], "disease": [{"text": "retinal degeneration", "start": 138, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The term HNPCC has also been applied to clinical scenarios in which CRCs with DNA microsatellite instability are diagnosed but in which there is no vertical transmission of an altered DNA mismatch repair (MMR) gene.", "output": {"entities": {"gene": [{"text": "MMR", "start": 205, "end": 208}], "disease": [{"text": "microsatellite instability", "start": 82, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Melatonin attenuates oxidative stress and the associated memory impairment induced by klotho deficiency via signaling interaction between the MT2 receptor and ERK-and Nrf2-related antioxidant potential.", "output": {"entities": {"gene": [{"text": "klotho", "start": 86, "end": 92}], "disease": [{"text": "memory impairment", "start": 57, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "klotho", "start": 86, "end": 92}, "tail": {"text": "memory impairment", "start": 57, "end": 74}}]}}, "schema": []}
{"input": "We found that hsp90alpha is secreted in exosomes in invasive cancer cells and it contributes to their invasive nature.", "output": {"entities": {"gene": [{"text": "hsp90alpha", "start": 14, "end": 24}], "disease": [{"text": "invasive cancer", "start": 52, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We characterized the contribution of the local hypoxic environment to VEGF and OPN production by monocytic cells recruited to the synovium in JIA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 70, "end": 74}], "disease": [{"text": "hypoxic", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Whether TRAF1 polymorphisms confer increased risk for primary biliary cirrhosis (PBC), an autoimmune liver disease which can co-exist with RA, is unknown.", "output": {"entities": {"gene": [{"text": "TRAF1", "start": 8, "end": 13}], "disease": [{"text": "primary biliary cirrhosis", "start": 54, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Patients with recurrent fungal infections in the absence of known immunodeficiencies should be analyzed for CARD9 gene mutations as the cause of fungal infection predisposition.", "output": {"entities": {"gene": [{"text": "CARD9 gene", "start": 108, "end": 118}], "disease": [{"text": "fungal infection", "start": 24, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Here, we have analyzed four MDM families for mutations in SLURP-1.", "output": {"entities": {"gene": [{"text": "SLURP-1", "start": 58, "end": 65}], "disease": [{"text": "MDM", "start": 28, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLURP-1", "start": 58, "end": 65}, "tail": {"text": "MDM", "start": 28, "end": 31}}]}}, "schema": []}
{"input": "Hcrtr1 and 2 signaling differentially regulates depression-like behaviors.", "output": {"entities": {"gene": [{"text": "Hcrtr1", "start": 0, "end": 6}], "disease": [{"text": "depression", "start": 48, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hcrtr1", "start": 0, "end": 6}, "tail": {"text": "depression", "start": 48, "end": 58}}]}}, "schema": []}
{"input": "This study aimed to compare the EGFR and KRAS genotyping methods developed by the IFCT/ERMETIC2 network platforms in two blind panels: 25 samples of serial dilutions of cell line DNA (20 centers) and 74 FFPE lung tumor samples (10 centers).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 32, "end": 36}], "disease": [{"text": "blind", "start": 121, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Both mRNA and protein expression levels of CK7 appear significantly higher in chromophobe RCC compared to oncocytoma (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "CK7", "start": 43, "end": 46}], "disease": [{"text": "oncocytoma", "start": 106, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CK7", "start": 43, "end": 46}, "tail": {"text": "oncocytoma", "start": 106, "end": 116}}]}}, "schema": []}
{"input": "Successful self-cleavage of 2A-peptide induced synergistic antitumor effect in the liver of H-ras12V, the HCC model mice, by simultaneous activation of LETM1 (Leucine zipper/EF hand-containing transmembrane-1) and CTMP (carboxyl-terminal modulator protein).", "output": {"entities": {"gene": [{"text": "LETM1", "start": 152, "end": 157}], "disease": [{"text": "HCC", "start": 106, "end": 109}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "LETM1", "start": 152, "end": 157}, "tail": {"text": "HCC", "start": 106, "end": 109}}]}}, "schema": []}
{"input": "By using FISH and long-range PCR approaches, we have precisely mapped the breakpoints associated with this translocation in a gene-free region in chromosome 3 and in the third intron of the ZNF407 gene in chromosome18.", "output": {"entities": {"gene": [{"text": "ZNF407 gene", "start": 190, "end": 201}], "disease": [{"text": "translocation", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The dissociation between loss of expression of APC and accumulation of beta-catenin in the nucleus suggests that inactivation of both alleles of the APC gene may not be required for beta-catenin nuclear accumulation in colonic adenomas.", "output": {"entities": {"gene": [{"text": "APC gene", "start": 149, "end": 157}], "disease": [{"text": "dissociation", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "After acute hypoxia at P10, Cx30 protein levels were increased at 30min after reoxygenation, at P11 and at P14, and then returned to control levels.", "output": {"entities": {"gene": [{"text": "P10", "start": 23, "end": 26}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 121, "end": 126}], "disease": [{"text": "retinal degeneration", "start": 68, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Combining two novel anticancer agents, kallistatin targeting tumoral vascularization and meloxicam targeting cell proliferation and apoptosis, warrants investigation as a therapeutic strategy to combat HCC.", "output": {"entities": {"gene": [{"text": "kallistatin", "start": 39, "end": 50}], "disease": [{"text": "HCC", "start": 202, "end": 205}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "kallistatin", "start": 39, "end": 50}, "tail": {"text": "HCC", "start": 202, "end": 205}}]}}, "schema": []}
{"input": "Disruption of these protein products is responsible for cognitive dysfunction, electroretinogram (ERG) abnormalities and behavioural disorders in Duchenne muscular dystrophy (DMD).", "output": {"entities": {"gene": [{"text": "ERG", "start": 98, "end": 101}], "disease": [{"text": "abnormalities", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Arr3 displayed a robust translocation to agonist-stimulated GLP-1R but not to GIPR.", "output": {"entities": {"gene": [{"text": "GLP-1R", "start": 60, "end": 66}], "disease": [{"text": "translocation", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined the inhibitory effects of apelin on transforming growth factor-β1 (TGF-β1)-induced EMT in HK-2 cells, and evaluated its therapeutic efficacy in mice with complete unilateral ureteral obstruction (UUO).", "output": {"entities": {"gene": [{"text": "EMT", "start": 110, "end": 113}], "disease": [{"text": "ureteral obstruction", "start": 201, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT), an important process during embryonic development, is reportedly exploited during tumour progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumour progression", "start": 123, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "We sought evidence of EBV infection in thymuses from patients with myasthenia gravis (MG), an autoimmune disease characterized by intrathymic B-cell activation.", "output": {"entities": {"gene": [{"text": "B-cell activation", "start": 142, "end": 159}], "disease": [{"text": "myasthenia gravis", "start": 67, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "It is perhaps more likely that a phenotype identical to HGPPS can be caused by abnormalities in ROBO3 splice variant expression, by mutations of a gene other than ROBO3, or by some environmental or epigenetic factor (s) inhibiting the action of ROBO3 or its protein product in the developing brainstem.", "output": {"entities": {"gene": [{"text": "ROBO3", "start": 96, "end": 101}], "disease": [{"text": "abnormalities", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "LOUCY cells revealed chromosomal deletion at 5q31, which targets the downstream regulatory region of the PRD homeobox gene PITX1, removing a STAT1 binding site.", "output": {"entities": {"gene": [{"text": "PRD", "start": 105, "end": 108}], "disease": [{"text": "chromosomal deletion", "start": 21, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the expression level of FOXC2 and microvessel density (MVD) were detected by indirect double-labeled immunofluorescence and laser scanning confocal microscopy in cervix tissue samples, 86 of cervical carcinoma, 54 of cervical intraepithelial neoplasia (CIN), and 30 of normal cervix as controls.", "output": {"entities": {"gene": [{"text": "MVD", "start": 68, "end": 71}], "disease": [{"text": "cervical intraepithelial neoplasia", "start": 230, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 16, "end": 20}], "disease": [{"text": "non-small cell lung cancer", "start": 102, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCNH", "start": 16, "end": 20}, "tail": {"text": "non-small cell lung cancer", "start": 102, "end": 128}}]}}, "schema": []}
{"input": "Our data show that TOD is caused by this single recurrent mutation in the FLNA gene.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 74, "end": 78}], "disease": [{"text": "TOD", "start": 19, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLNA", "start": 74, "end": 78}, "tail": {"text": "TOD", "start": 19, "end": 22}}]}}, "schema": []}
{"input": "Longer term elevation of RCAN1-1L levels (for at least 16 months), however, can lead to the first signs of neurodegeneration.", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 25, "end": 30}], "disease": [{"text": "neurodegeneration", "start": 107, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Impaired intercellular adhesion and epidermal blistering also occur in individuals with pemphigus (which is due to autoantibodies directed against desmosomal proteins) and in patients with Darier disease (DD, MIM 124200), which is caused by mutations in a gene encoding a sarco/endoplasmic reticulum (ER)-Golgi calcium pump.", "output": {"entities": {"gene": [{"text": "MIM", "start": 209, "end": 212}], "disease": [{"text": "adhesion", "start": 23, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "High levels of cyclin D1 mRNA (cyclin D1/TBP [TATA box binding protein] ratio > 95) were found exclusively in the presence of a t (11; 14) translocation (11/48 cases; P <. 00001).", "output": {"entities": {"gene": [{"text": "TBP", "start": 41, "end": 44}], "disease": [{"text": "translocation", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.", "output": {"entities": {"gene": [{"text": "PMVK", "start": 24, "end": 28}], "disease": [{"text": "Linear Porokeratosis", "start": 50, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PMVK", "start": 24, "end": 28}, "tail": {"text": "Linear Porokeratosis", "start": 50, "end": 70}}]}}, "schema": []}
{"input": "The pregnancy complications preeclampsia, gestational hypertension, small for gestational age infants (SGA) and pre-term birth (PTB) affect approximately 21% of all pregnancies.", "output": {"entities": {"gene": [{"text": "PTB", "start": 128, "end": 131}], "disease": [{"text": "small for gestational age", "start": 68, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate for the first time that 5-HT2B receptors are essential for isoproterenol-induced cardiac hypertrophy, which involves the regulation of interleukin-6, interleukin-1beta, and tumor necrosis factor-alpha cytokine production by cardiac fibroblasts.", "output": {"entities": {"gene": [{"text": "5-HT2B", "start": 48, "end": 54}], "disease": [{"text": "cardiac hypertrophy", "start": 105, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT2B", "start": 48, "end": 54}, "tail": {"text": "cardiac hypertrophy", "start": 105, "end": 124}}]}}, "schema": []}
{"input": "The association between pancreatitis and the-308G > A and-238G > A polymorphisms in TNF-α gene has been analyzed in several studies, but results have been inconsistent.", "output": {"entities": {"gene": [{"text": "α gene", "start": 88, "end": 94}], "disease": [{"text": "pancreatitis", "start": 24, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.", "output": {"entities": {"gene": [{"text": "AP3D1", "start": 13, "end": 18}], "disease": [{"text": "seizures", "start": 56, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AP3D1", "start": 13, "end": 18}, "tail": {"text": "seizures", "start": 56, "end": 64}}]}}, "schema": []}
{"input": "This protein has been attributed many cellular functions, including energy generation, stress response, carcinogenesis and involvement in neurodegenerative diseases, which is well documented by many names it has been given (CSA, MOT, MOT2, GRP75, PBP74, GRP-75, HSPA9B, MGC4500, MTHSP75, and mortalin).", "output": {"entities": {"gene": [{"text": "GRP", "start": 240, "end": 243}], "disease": [{"text": "neurodegenerative diseases", "start": 138, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Common peroneal nerve palsy following TNF-based isolated limb perfusion for irresectable extremity desmoid tumor.", "output": {"entities": {"gene": [{"text": "TNF", "start": 38, "end": 41}], "disease": [{"text": "desmoid tumor", "start": 99, "end": 112}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TNF", "start": 38, "end": 41}, "tail": {"text": "desmoid tumor", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "We investigate effects on neuropeptide Y (NPY) and calcitonin gene-related peptide (CGRP) like immunoreactivity (LI) in 10 brain regions as these neuropeptides are affected by antidepressants and are altered in cerebrospinal fluid of depressed patients.", "output": {"entities": {"gene": [{"text": "calcitonin", "start": 51, "end": 61}], "disease": [{"text": "depressed", "start": 234, "end": 243}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "calcitonin", "start": 51, "end": 61}, "tail": {"text": "depressed", "start": 234, "end": 243}}]}}, "schema": []}
{"input": "Collectively, our data suggests that the novel adipokine omentin-1 may contribute to the therapeutic strategy for hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "omentin", "start": 57, "end": 64}], "disease": [{"text": "hepatocellular carcinoma", "start": 114, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxic conditions, VEGF increased Dll4 expression in the tumor vasculature.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 26, "end": 30}], "disease": [{"text": "hypoxic", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that RET and EDNRB mutations have a role in the aetiology of some sporadically occurring HSCR.", "output": {"entities": {"gene": [{"text": "RET", "start": 23, "end": 26}], "disease": [{"text": "HSCR", "start": 107, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 23, "end": 26}, "tail": {"text": "HSCR", "start": 107, "end": 111}}]}}, "schema": []}
{"input": "Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by recurrent episodes of fever accompanied with lymphadenopathy, abdominal distress, joint involvement and skin lesions.", "output": {"entities": {"gene": [{"text": "MIM", "start": 62, "end": 65}], "disease": [{"text": "skin lesions", "start": 257, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "The severity of tubular atrophy, tubular casts, and interstitial fibrosis increased significantly in Nr4a1 (-/-) rats and was accompanied by a large increase in immune cell infiltration, predominantly macrophages and to a lesser extent T cells and B cells.", "output": {"entities": {"gene": [{"text": "Nr4a1", "start": 101, "end": 106}], "disease": [{"text": "tubular atrophy", "start": 16, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "We also found that some myeloma cell lines (XG-4, XG-6, and XG-7) an fresh myeloma cells from 3 of 6 patients produced an autocrine IL-10 and that these cells constitutively expressed LIFR.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 184, "end": 188}], "disease": [{"text": "myeloma", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "CDG Ie is caused by a deficiency of dolichol-phosphate-mannose synthase 1 (DPM1), an enzyme involved in N-glycan assembly in the endoplasmic reticulum.", "output": {"entities": {"gene": [{"text": "DPM1", "start": 75, "end": 79}], "disease": [{"text": "CDG Ie", "start": 0, "end": 6}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DPM1", "start": 75, "end": 79}, "tail": {"text": "CDG Ie", "start": 0, "end": 6}}]}}, "schema": []}
{"input": "Circulating WISP1 and WISP1 subcutaneous adipose tissue expression were regulated by weight changes in humans and mice.", "output": {"entities": {"gene": [{"text": "WISP1", "start": 12, "end": 17}], "disease": [{"text": "weight changes", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 95, "end": 100}], "disease": [{"text": "retinal degeneration", "start": 225, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "We used recombinant sgp130Fc protein and recently generated transgenic mice expressing high levels of sgp130Fc to discriminate between classic and trans-signaling in vivo, and demonstrated that IL-6 trans-signaling is critically involved in generation and maintenance of several inflammatory and autoimmune diseases including chronic inflammatory bowel disease, rheumatoid arthritis, peritonitis and asthma, as well as inflammation-induced colon cancer.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 194, "end": 198}], "disease": [{"text": "peritonitis", "start": 384, "end": 395}]}, "relations": {}}, "schema": []}
{"input": "Herein we have examined whether the promoter methylation of DAPK gene or down-modulation of DAPK is associated with gastric atrophy.", "output": {"entities": {"gene": [{"text": "DAPK", "start": 60, "end": 64}], "disease": [{"text": "gastric atrophy", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Tumor cell migration is increased through the sequential induction of HIF-1α and VEGF under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 81, "end": 85}], "disease": [{"text": "hypoxic", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Expression of autophagosome marker LC3B-II and mitochondria-specific autophagy, mitophagy, regulator Park2, were significantly increased in the retinas of Abca4 (-/-) Rdh8 (-/-) mice after light exposure, suggesting involvement of autophagy and mitophagy in the pathogenesis of light-induced retinal degeneration.", "output": {"entities": {"gene": [{"text": "Abca4", "start": 155, "end": 160}], "disease": [{"text": "retinal degeneration", "start": 292, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "In some cases they arise from low-grade follicular lymphomas carrying the t (14; 18) translocation, an event that leads to the overexpression of the BCL-2 gene product.", "output": {"entities": {"gene": [{"text": "BCL-2 gene", "start": 149, "end": 159}], "disease": [{"text": "translocation", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "There was hyperprolactinemia with pituitary microadenoma in sella MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 66, "end": 69}], "disease": [{"text": "hyperprolactinemia", "start": 10, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The amphotropic retroviral vector TFG-hIL4-Neo-Tk was then used to infect human primary glioma cultures and skin-derived fibroblasts.", "output": {"entities": {"gene": [{"text": "TFG", "start": 34, "end": 37}], "disease": [{"text": "glioma", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Glucocorticoid (GC) sensitivity depends on glucocorticoid receptor (GR) and heat shock proteins (Hsps).", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 43, "end": 66}], "disease": [{"text": "shock", "start": 81, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We propose a novel mechanism whereby homozygous expression of the LonP1-P761L variant leads to PDH deficiency and energy metabolism dysfunction, which promotes severe neurologic impairment and neurodegeneration.", "output": {"entities": {"gene": [{"text": "LonP1", "start": 66, "end": 71}], "disease": [{"text": "PDH deficiency", "start": 95, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LonP1", "start": 66, "end": 71}, "tail": {"text": "PDH deficiency", "start": 95, "end": 109}}]}}, "schema": []}
{"input": "Attachment of invasive breast cancer cells (MDA-MB-231) to human umbilical vein endothelial cells induced tyrosine phosphorylation of VE-cad, dissociation of β-catenin from VE-cad, and retraction of endothelial cells.", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 158, "end": 167}], "disease": [{"text": "cad", "start": 137, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "MELAS syndrome in a patient with a point mutation in MTTS1.", "output": {"entities": {"gene": [{"text": "MTTS1", "start": 53, "end": 58}], "disease": [{"text": "MELAS syndrome", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTTS1", "start": 53, "end": 58}, "tail": {"text": "MELAS syndrome", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "In this study, we examined cell migration, adhesion (a step in migration), and Matrigel invasion of U87 and LN229 glioma cells when their mitochondria were inhibited with sodium azide or limited by 1% O (2).", "output": {"entities": {"gene": [{"text": "U87", "start": 100, "end": 103}], "disease": [{"text": "glioma", "start": 114, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Recombinant IL-6, but not IL-10, TNF-alpha, and IFN-alpha, stimulated the secretion of IL-10 by colon tumor cells.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 48, "end": 57}], "disease": [{"text": "colon tumor", "start": 96, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "It also decreased cytochrome c release into the cytoplasm and reduced upregulation of p53 and Bax after ischemia.", "output": {"entities": {"gene": [{"text": "p53", "start": 86, "end": 89}], "disease": [{"text": "ischemia", "start": 104, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p53", "start": 86, "end": 89}, "tail": {"text": "ischemia", "start": 104, "end": 112}}]}}, "schema": []}
{"input": "TIMP4-deficient mice, however, showed exacerbated diastolic dysfunction, sustained elevation of membrane-type 1 MMP activity, and worsened myocardial hypertrophy and fibrosis.", "output": {"entities": {"gene": [{"text": "TIMP4", "start": 0, "end": 5}], "disease": [{"text": "hypertrophy", "start": 150, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Diagnosis of a poorly differentiated synovial sarcoma was offered and confirmed with a positive t (X; 18) SYT-SSX2 translocation.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 110, "end": 114}], "disease": [{"text": "translocation", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "PTEN (phosphatase/tensin homolog on chromosome 10)-induced putative kinase 1 (PINK1), a putative kinase that is mutated in autosomal recessive forms of PD, is also implicated in sporadic cases of the disease.", "output": {"entities": {"gene": [{"text": "tensin", "start": 18, "end": 24}], "disease": [{"text": "sporadic", "start": 178, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Conformational studies at mild acidic pH and moderate guanidium concentrations showed the formation of a molten-globule-like unfolding intermediate in all three variants, which do not reactivate to the native state and strongly interact with Hsc70 and Hsp90 chaperones.", "output": {"entities": {"gene": [{"text": "Hsc70", "start": 242, "end": 247}], "disease": [{"text": "mild", "start": 26, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "An association study was performed to elucidate the role of the serotonin transporter (5-HTT) gene as a susceptibility factor for autism as treatment of patients with antidepressant drugs which selectively target 5-HTT reduced autistic or concomitant symptoms, such as repetitive behavior and aggression, and ameliorate language use.", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 87, "end": 92}], "disease": [{"text": "aggression", "start": 293, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "We aimed to evaluate association of cholesteryl ester transfer protein (CETP) and apolipoprotein (APO) E gene variants with asymptomatic obesity.", "output": {"entities": {"gene": [{"text": "APO", "start": 98, "end": 101}], "disease": [{"text": "obesity", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that beta-cell proliferation occurs in adult obese humans in an attempt to expand beta-cell mass to compensate for insulin resistance, and that the FoxM1 transcriptional program plays a key role in this process.", "output": {"entities": {"gene": [{"text": "FoxM1", "start": 165, "end": 170}], "disease": [{"text": "insulin resistance", "start": 132, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these studies suggest that in addition to the p42/p44 MAPK pathway, other signaling pathways are also important for PR transcriptional activity in breast cancer cells.", "output": {"entities": {"gene": [{"text": "p42", "start": 60, "end": 63}], "disease": [{"text": "breast cancer", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "In the NEWMOOD cohort polymorphisms of the genes of the serotonin transporter, 5-HT1A, 5-HT1B and 5-HT2A and endocannabinoid CB1 receptors, tryptophan hydroxylase, CREB1, BDNF and GIRK provide evidence for the involvement of these genes in the development of depression.", "output": {"entities": {"gene": [{"text": "5-HT1B", "start": 87, "end": 93}], "disease": [{"text": "depression", "start": 259, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT1B", "start": 87, "end": 93}, "tail": {"text": "depression", "start": 259, "end": 269}}]}}, "schema": []}
{"input": "Indeed, recent work has shown that loss of PD-L1 signalling in the gut breaks CD8 (+) T cell tolerance to self antigen and leads to severe autoimmune enteritis.", "output": {"entities": {"gene": [{"text": "PD-L1", "start": 43, "end": 48}], "disease": [{"text": "enteritis", "start": 150, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Plasma ACTH did not increase after hemorrhage 30 min or 4 days after NTS lesions when compared with the other groups (sham, sham with hexamethonium, and missed lesion) and to prelesion controls.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 7, "end": 11}], "disease": [{"text": "hemorrhage", "start": 35, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 7, "end": 11}, "tail": {"text": "hemorrhage", "start": 35, "end": 45}}]}}, "schema": []}
{"input": "A male child with metabolic acidosis was diagnosed as having dihydrolipoamide dehydrogenase (E3) deficiency.", "output": {"entities": {"gene": [{"text": "dihydrolipoamide dehydrogenase", "start": 61, "end": 91}], "disease": [{"text": "E3) deficiency", "start": 93, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dihydrolipoamide dehydrogenase", "start": 61, "end": 91}, "tail": {"text": "E3) deficiency", "start": 93, "end": 107}}]}}, "schema": []}
{"input": "In Ewing' s sarcoma family tumors (ESFTs), the proto-oncogene EWS that encodes an RNA-binding protein is fused by chromosomal translocation to the gene encoding one of the E-twenty six (ETS) family of transcription factors, most commonly friend leukemia virus integration 1 (FLI-1).", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 82, "end": 101}], "disease": [{"text": "chromosomal translocation", "start": 114, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Impairment of the Pin1/E2F1 axis in the anti-proliferative effect of bortezomib in hepatocellular carcinoma cells.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 18, "end": 22}], "disease": [{"text": "hepatocellular carcinoma", "start": 83, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Thus, molecular mimicry between a pathogen and neurons can induce a CD8 T cell-mediated neurological disease, with its severity being influenced by the frequency of specific CD8 T cells, and its induction, but not its symptomatic phase, requiring the intracerebral presence of the pathogen.", "output": {"entities": {"gene": [{"text": "CD8", "start": 68, "end": 71}], "disease": [{"text": "neurological disease", "start": 88, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Therefore, using the expression of suppressors of cytokine signaling (SOCS)-1 and-3 as indices of gp130 signal transduction, we performed a detailed in situ hybridization seizure time-course study in the adult rat hippocampus.", "output": {"entities": {"gene": [{"text": "SOCS", "start": 70, "end": 74}], "disease": [{"text": "seizure", "start": 171, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Of the 45 rats, 24 with-dp/dtmax & lt; or = 700 mmHg/s (1 mmHg = 0. 133 kPa) developing diabetic cardiomyopathy were grouped as follows: 7 treated with double distilled H2O (ip) were included in control group 2 (con2); other 8 treated with AT2 agonist (CGP42112A, ip) were included in experimental group1 (exp); 9 treated with astragalus (po) constituted experimental group 2 (exp2).", "output": {"entities": {"gene": [{"text": "AT2", "start": 240, "end": 243}], "disease": [{"text": "diabetic cardiomyopathy", "start": 88, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AT2", "start": 240, "end": 243}, "tail": {"text": "diabetic cardiomyopathy", "start": 88, "end": 111}}]}}, "schema": []}
{"input": "Gene expression analysis revealed that CDK6 mRNA expression is higher than normal cerebellum in fifteen out of sixteen medulloblastoma patient samples.", "output": {"entities": {"gene": [{"text": "CDK6", "start": 39, "end": 43}], "disease": [{"text": "medulloblastoma", "start": 119, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDK6", "start": 39, "end": 43}, "tail": {"text": "medulloblastoma", "start": 119, "end": 134}}]}}, "schema": []}
{"input": "We identified 5 RS-SCID patients without RAG gene mutations, 4 of them with Artemis gene mutations.", "output": {"entities": {"gene": [{"text": "Artemis", "start": 76, "end": 83}], "disease": [{"text": "RS-SCID", "start": 16, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Artemis", "start": 76, "end": 83}, "tail": {"text": "RS-SCID", "start": 16, "end": 23}}]}}, "schema": []}
{"input": "However, the prevalence of heterozygous NCC mutations and their association with blood pressure in children have not yet been studied.", "output": {"entities": {"gene": [{"text": "NCC", "start": 40, "end": 43}], "disease": [{"text": "blood pressure", "start": 81, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Here we show the consequences of germline final-exon-truncating mutations in REST for organismal development and the association with the HGF phenotype.", "output": {"entities": {"gene": [{"text": "REST", "start": 77, "end": 81}], "disease": [{"text": "HGF", "start": 138, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "REST", "start": 77, "end": 81}, "tail": {"text": "HGF", "start": 138, "end": 141}}]}}, "schema": []}
{"input": "Multiplex sequencing for EZH2, CD79B, and MYD88 mutations using archival cytospin preparations from B-cell non-Hodgkin lymphoma aspirates previously tested for MYC rearrangement and IGH/BCL2 translocation.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 186, "end": 190}], "disease": [{"text": "translocation", "start": 191, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the defective hematopoiesis observed in patients with DBA associated with ribosomal protein haploinsufficiency could be partially overcome by increasing GATA1 protein levels.", "output": {"entities": {"gene": [{"text": "GATA1", "start": 163, "end": 168}], "disease": [{"text": "DBA", "start": 64, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATA1", "start": 163, "end": 168}, "tail": {"text": "DBA", "start": 64, "end": 67}}]}}, "schema": []}
{"input": "Finally, we demonstrate that VEGF up-regulation may occur at the RNA level since no gene amplification is observed; conversely, in in vitro models such as the embryonal stem cell line NTERA-2 and the choricarcinoma JEG-3 cell line, VEGF (but not PIGF) mRNA expression is regulated by hypoxic stress.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 29, "end": 33}], "disease": [{"text": "hypoxic", "start": 284, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.", "output": {"entities": {"gene": [{"text": "KCNJ2", "start": 0, "end": 5}], "disease": [{"text": "Andersen syndrome", "start": 26, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ2", "start": 0, "end": 5}, "tail": {"text": "Andersen syndrome", "start": 26, "end": 43}}]}}, "schema": []}
{"input": "Similar to VEGF, EG-VEGF possesses a HIF-1 binding site, and its expression is induced by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 11, "end": 15}], "disease": [{"text": "hypoxia", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Treatment of AβPPLon mice with E64d, a cysteine protease inhibitor of CatB, also reduced brain pGlu-Aβ (3-42), flAβ (1-40/42), and pGlu-Aβ plaque load.", "output": {"entities": {"gene": [{"text": "CatB", "start": 70, "end": 74}], "disease": [{"text": "plaque", "start": 139, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, Ednrb-null rats in the LE and F344 genetic background did not show these abnormalities.", "output": {"entities": {"gene": [{"text": "Ednrb", "start": 15, "end": 20}], "disease": [{"text": "abnormalities", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The fusion oncoproteins in many other translocation-associated sarcomas incorporate transcription factors from the ATF/cAMP response element binding or E26 families, which potentially form heterodimers with ATF2 to regulate transcription.", "output": {"entities": {"gene": [{"text": "ATF2", "start": 207, "end": 211}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the TBC1D24 gene were first reported in an Italian family with a unique epileptic phenotype consisting of drug-responsive, early-onset idiopathic myoclonic seizures.", "output": {"entities": {"gene": [{"text": "TBC1D24 gene", "start": 17, "end": 29}], "disease": [{"text": "myoclonic seizures", "start": 159, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In contrast, combined IL6/VEGF knockdown not only showed enhanced reduction of tumor growth and angiogenesis but also significantly prevented invasion of residual tumor cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 26, "end": 30}], "disease": [{"text": "residual tumor", "start": 154, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We found that AAV-mediated overexpression of NPY in the DMH of lean rats increased food intake and body weight, and exacerbated high-fat diet-induced obesity.", "output": {"entities": {"gene": [{"text": "NPY", "start": 45, "end": 48}], "disease": [{"text": "body weight", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "This intricacy confers an ability to integrate a variety of stimuli, thereby regulating NCC transport activity and ultimately blood pressure.", "output": {"entities": {"gene": [{"text": "NCC", "start": 88, "end": 91}], "disease": [{"text": "blood pressure", "start": 126, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Antibodies against galactosyl ceramide (galactocerebroside, or GalC) inhibited viral internalization and infection in two CD4-negative cell lines derived from the nervous system: U373-MG and SK-N-MC.", "output": {"entities": {"gene": [{"text": "CD4", "start": 122, "end": 125}], "disease": [{"text": "nervous system", "start": 163, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the CFH Y402H polymorphism associates with inflammation, visual impairment, and cardiovascular mortality in the elderly population at large.", "output": {"entities": {"gene": [{"text": "CFH", "start": 21, "end": 24}], "disease": [{"text": "inflammation", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In this study, using immunohistochemistry and a microsatellite instability assay, we analyzed the incidence of MMR gene abnormalities in 79 sebaceous lesions from 70 patients, 26 of whom also had an extracutaneous visceral neoplasm.", "output": {"entities": {"gene": [{"text": "MMR", "start": 111, "end": 114}], "disease": [{"text": "microsatellite instability", "start": 48, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "BIK interactive total feedback terms included mitochondrial envelope, endomembrane system, integral to membrane, Golgi apparatus, cytoplasm, nucleus, cytosol, intracellular signaling cascade, mitochondrion, extracellular space, inflammation, immune response, apoptosis, cell differentiation, cell cycle, regulation of cell cycle, cell proliferation, estrogen-responsive protein Efp controls cell cycle and breast tumors growth, induction or regulation of apoptosis based on integrative GO, KEGG, GenMAPP, BioCarta and disease databases in low normal adjacent tissues of lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "BIK", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 228, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "The combination of cytogenetic, FISH, and molecular analysis provides a highly sensitive strategy for detection of 11q23/MLL gene rearrangements in childhood M4-M5 leukemias.", "output": {"entities": {"gene": [{"text": "FISH", "start": 32, "end": 36}], "disease": [{"text": "leukemias", "start": 164, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Reduced thrombosis in Klkb1-/-mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor.", "output": {"entities": {"gene": [{"text": "Sirt1", "start": 88, "end": 93}], "disease": [{"text": "thrombosis", "start": 8, "end": 18}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Sirt1", "start": 88, "end": 93}, "tail": {"text": "thrombosis", "start": 8, "end": 18}}]}}, "schema": []}
{"input": "We propose the following clinical diagnostic criteria for AFAP: a dominant mode of inheritance of colorectal adenomatosis and < 100 colorectal adenomas at age 25 or older.", "output": {"entities": {"gene": [{"text": "AFAP", "start": 58, "end": 62}], "disease": [{"text": "adenomatosis", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "For the VHL gene we found increased MetI in tumors as compared with normal adrenals (57% vs. 27%; P < 0. 001), in malignant vs. benign tumors (63% vs. 55%; P < 0. 05), and in PGL vs. PCC (66% vs. 55%; P < 0. 0005).", "output": {"entities": {"gene": [{"text": "VHL gene", "start": 8, "end": 16}], "disease": [{"text": "benign tumors", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Even in these risk groups, the cost-benefit ratio of selective screening is unfavorable, as today at most 70% of the hereditary thrombophilias can be diagnosed by laboratory analysis, and only very few of the patients will actually experience a thrombotic event: only 3 of 1000 carriers of APC-resistance will suffer from thrombosis during oral contraception.", "output": {"entities": {"gene": [{"text": "APC-resistance", "start": 290, "end": 304}], "disease": [{"text": "thrombotic", "start": 245, "end": 255}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APC-resistance", "start": 290, "end": 304}, "tail": {"text": "thrombotic", "start": 245, "end": 255}}]}}, "schema": []}
{"input": "The results showed that, compared with benign liver diseases and healthy controls, the levels of serum miR-182 and miR-331-3p were significantly increased in HCC patients, both P < 0. 001.", "output": {"entities": {"gene": [{"text": "HCC", "start": 158, "end": 161}], "disease": [{"text": "liver diseases", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD/AML, MIM 601399) is an autosomal dominant disorder characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukaemia (AML).", "output": {"entities": {"gene": [{"text": "MIM", "start": 88, "end": 91}], "disease": [{"text": "platelet disorder", "start": 9, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "An imbalance between cysteine proteases and the cysteine protease inhibitor cystatin C (CST3) may exacerbate vascular remodeling through degradation of extracellular matrix proteins.", "output": {"entities": {"gene": [{"text": "CST3", "start": 88, "end": 92}], "disease": [{"text": "vascular remodeling", "start": 109, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Serum Fetuin-A was higher in NAFLD patients than in controls (P < 0 · 0001), independently of age, sex, BMI, insulin resistance, dyslipidemia, adiponectin, PNPLA3 I148M and ALT levels (OR 1 · 006 95% CI 1 · 003-1 · 11; P = 0 · 003).", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 156, "end": 162}], "disease": [{"text": "insulin resistance", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Moreover, VEGF165 blocks SNP-induced Bcl-2 down-regulation as well as SNP-induced Bax translocation from the cytosol to the mitochondria.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 37, "end": 42}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb) and a low mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) value.", "output": {"entities": {"gene": [{"text": "MCH", "start": 152, "end": 155}], "disease": [{"text": "mean corpuscular volume", "start": 97, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate the clinical usefulness of a panel of beta2 integrins (CD11a, CD11b and CD11c) in accurate prediction of AML-M3, and recommend inclusion of this immunophenotypic analysis to identify patients who require ATRA therapy.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 77, "end": 82}], "disease": [{"text": "AML-M3", "start": 120, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD11b", "start": 77, "end": 82}, "tail": {"text": "AML-M3", "start": 120, "end": 126}}]}}, "schema": []}
{"input": "Enhanced genomic instability has been recently reported in normal cells derived from BRCA1/2 mutation carriers when placed in vitro in non-physiological stress conditions.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 85, "end": 90}], "disease": [{"text": "genomic instability", "start": 9, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The reduction in CFH amount or its complement-modulating activity may lead to inadequate control of complement-driven inflammation at the outer retina.", "output": {"entities": {"gene": [{"text": "CFH", "start": 17, "end": 20}], "disease": [{"text": "inflammation", "start": 118, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We report mutations in the coding region of PAX8 in two sporadic patients and one familial case of TD.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 44, "end": 48}], "disease": [{"text": "sporadic", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "These results suggest, but do not prove, that PPARGC1 participates in blood pressure control, and sequence substitutions at its gene locus confer an increased risk of hypertension to a substantial proportion of men.", "output": {"entities": {"gene": [{"text": "PPARGC1", "start": 46, "end": 53}], "disease": [{"text": "blood pressure", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Czech dysplasia is caused by a specific missense mutation (R275C, c. 823C & gt; T) in the triple helical domain of the COL2A1 gene.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 119, "end": 125}], "disease": [{"text": "Czech dysplasia", "start": 0, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 119, "end": 125}, "tail": {"text": "Czech dysplasia", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "The t (8; 21) chromosomal translocation in acute myelogenous leukemia modifies intranuclear targeting of the AML1/CBFalpha2 transcription factor.", "output": {"entities": {"gene": [{"text": "AML1", "start": 109, "end": 113}], "disease": [{"text": "chromosomal translocation", "start": 14, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Transgenic mice expressing alpha (2A)-adrenoceptors under control of the dopamine beta-hydroxylase (Dbh) promoter were generated and crossed with mice carrying a constitutive deletion in the alpha (2A)-and alpha (2C)-adrenoceptor genes. alpha (2AC)-deficient mice showed increased norepinephrine plasma levels, cardiac hypertrophy, and fibrosis at baseline.", "output": {"entities": {"gene": [{"text": "alpha (2C)-adrenoceptor", "start": 206, "end": 229}], "disease": [{"text": "cardiac hypertrophy", "start": 311, "end": 330}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha (2C)-adrenoceptor", "start": 206, "end": 229}, "tail": {"text": "cardiac hypertrophy", "start": 311, "end": 330}}]}}, "schema": []}
{"input": "We have taken advantage of the hamster strain CHF147 that displays progressive cardiomyopathy leading to heart failure to test whether stimulation of a hypertrophic pathway could delay the process of dilatation. Six month old CHF147 hamsters were treated with IGF-1 so that we could compare the efficacy of systemic administration of human recombinant IGF-1 protein (rh IGF-1) at low dose to that of direct myocardial injections of a plasmid DNA containing IGF-1 cDNA (pCMV-IGF1). IGF-1 treatment did not induce a significant variation of ventricle mass, but preserved left ventricular (LV) wall thickness and delayed dilatation of cardiac cavities when compared to non-treated hamsters.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 474, "end": 478}], "disease": [{"text": "cavities", "start": 640, "end": 648}]}, "relations": {}}, "schema": []}
{"input": "Herein, we investigate the role in vivo of TNF-alpha signalling through c-Jun N-terminal kinase (JNK) 1 in destructive arthritis.", "output": {"entities": {"gene": [{"text": "JNK", "start": 97, "end": 100}], "disease": [{"text": "destructive arthritis", "start": 107, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "A multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) assay for both major forms of BCR-ABL was compared with fluorescence in situ hybridization (FISH), karyotyping, and Southern blotting for disease monitoring in 37 follow-up bone marrow samples from 32 patients with Ph1-positive leukemia.", "output": {"entities": {"gene": [{"text": "FISH", "start": 161, "end": 165}], "disease": [{"text": "leukemia", "start": 297, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "Peripheral expression of ApoE mRNA was lower in the PSD group than the control stroke group (p < 0. 701) while serum ApoE was higher than in the control stroke group (p < 0. 05), possibly reflecting a feedback reduction in expression.", "output": {"entities": {"gene": [{"text": "PSD", "start": 52, "end": 55}], "disease": [{"text": "stroke", "start": 79, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "To address this question, we conducted a study to examine effects of FTO tag SNPs on censored age of overweight in the longitudinal Bogalusa Heart Study (BHS) cohort, which began in 1973-1974.", "output": {"entities": {"gene": [{"text": "FTO", "start": 69, "end": 72}], "disease": [{"text": "overweight", "start": 101, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We have analysed the p53 status in non-progressive and progressive chronic B-cell leukemia (B-CLL) by ELISA, immunoprecipitation, FACS and cDNA sequencing in relation to in vitro proliferation in response to Staphylococcus aureus strain Cowan I (SAC) and IL-2.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 255, "end": 259}], "disease": [{"text": "non-progressive", "start": 35, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We conclude that MUTYH suppresses spontaneous tumorigenesis in mammals, thus providing experimental evidence for the association between biallelic germ-line MUTYH mutations and a recessive form of human hereditary colorectal adenoma and carcinoma.", "output": {"entities": {"gene": [{"text": "MUTYH", "start": 17, "end": 22}], "disease": [{"text": "tumorigenesis", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Anemia, however, did not appear to influence EPOR expression on leukemic cells, although children with ETV6/RUNX1-positive leukemias had a lower median hemoglobin than controls.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 103, "end": 107}], "disease": [{"text": "hemoglobin", "start": 152, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons.", "output": {"entities": {"gene": [{"text": "NF-E2", "start": 78, "end": 83}], "disease": [{"text": "translocation", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "However, mutation screening by dHPLC and Southern blot analysis of another sporadic case with MMEP failed to detect any point mutations or deletions in the SNX3 coding sequence.", "output": {"entities": {"gene": [{"text": "SNX3", "start": 156, "end": 160}], "disease": [{"text": "MMEP", "start": 94, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SNX3", "start": 156, "end": 160}, "tail": {"text": "MMEP", "start": 94, "end": 98}}]}}, "schema": []}
{"input": "In this randomised, double-blind, placebo-controlled, phase 3 trial, we recruited women with HER2-positive, trastuzumab-resistant, advanced breast carcinoma who had previously received taxane therapy.", "output": {"entities": {"gene": [{"text": "HER2", "start": 93, "end": 97}], "disease": [{"text": "blind", "start": 27, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "These data raise the possibility that integrin-mediated adhesion to interstitial matrix proteins during metastasis differentially regulates the nuclear/cytoplasmic translocation and DNA binding of Twist1, activating N-cadherin transcription.", "output": {"entities": {"gene": [{"text": "Twist1", "start": 197, "end": 203}], "disease": [{"text": "translocation", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "METHODS: Using Fra-1-overexpressing MCF7 [weakly invasive, estrogen receptor (ER)-positive] and MDA MB231 (strongly invasive, ER-negative) cells, we performed dynamic cell flow adhesion assays on surfaces coated with E-selectin or with human pulmonary microvascular endothelial cells.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 59, "end": 76}], "disease": [{"text": "adhesion", "start": 177, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia.", "output": {"entities": {"gene": [{"text": "LHRH", "start": 53, "end": 57}], "disease": [{"text": "tachycardia", "start": 71, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LHRH", "start": 53, "end": 57}, "tail": {"text": "tachycardia", "start": 71, "end": 82}}]}}, "schema": []}
{"input": "Of the HLA-TNF haplotypes analysed, the infrequent allele (A) of TNFalpha238 was in strong linkage disequilibrium with HLA-A1 (P corrected: Pc = 0. 001), B17 (Pc < 0. 0001) and DR7 (Pc = 0. 01) in control subjects and with B17 (Pc < 0. 0001) in pulmonary tuberculosis.", "output": {"entities": {"gene": [{"text": "B17", "start": 154, "end": 157}], "disease": [{"text": "pulmonary tuberculosis", "start": 245, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "To identify the role of apoptosis in brain tumor cell death, we investigated macromolecular (RNA and protein) synthesis and activity in the central to peripheral region of benign [desmoplastic infantile ganglioglioma (DIG) and transitional meningioma (TMG)] and malignant [ependymoma (END), anaplastic astrocytoma (APA), and glioblastoma multiforme (GBM)] brain tumors derived from five patients who had not received previously radiotherapy or chemotherapy.", "output": {"entities": {"gene": [{"text": "END", "start": 285, "end": 288}], "disease": [{"text": "anaplastic astrocytoma", "start": 291, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Since the mutation produces a change in the predicted flexibility of the AGA polypeptide chain and removes an intramolecular S-S bridge, it most probably explains the deficient enzyme activity found in cells and tissues of AGU patients.", "output": {"entities": {"gene": [{"text": "AGA", "start": 73, "end": 76}], "disease": [{"text": "AGU", "start": 223, "end": 226}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGA", "start": 73, "end": 76}, "tail": {"text": "AGU", "start": 223, "end": 226}}]}}, "schema": []}
{"input": "Nevertheless, the cytogenetic and FISH findings indicate that CD79a, despite its specificity for B-cell differentiation, represented the aberrant presence of a B-cell antigen in leukemias of distinct myeloid linage.", "output": {"entities": {"gene": [{"text": "FISH", "start": 34, "end": 38}], "disease": [{"text": "leukemias", "start": 178, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "In addition, homozygous missense mutations in carbonic anhydrase-related protein VIII (CARP), which suppresses the ability of IP3 to bind to IP3R1, cause a recessively inherited ataxia with mild cognitive impairment with/without quadrupedal gait.", "output": {"entities": {"gene": [{"text": "CARP", "start": 87, "end": 91}], "disease": [{"text": "mild cognitive impairment", "start": 190, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "We assessed whether the risk alleles in TCF7L2, CDKAL1, HHEX, SLC30A8, IGF2BP2, CDKN2A/2B, JAZF1, and WFS1 reduce insulin secretion in an additive manner and whether their impact is influenced by insulin sensitivity.", "output": {"entities": {"gene": [{"text": "IGF2BP2", "start": 71, "end": 78}], "disease": [{"text": "insulin sensitivity", "start": 196, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Target genes of miR-122, including cyclin G1, a disintegrin and metalloprotease (ADAM) 10, serum response factor, insulin-like growth factor-1 receptor, ADAM17, transcription factor CUTL1, the embryonic isoform of pyruvate kinase (Pkm2), Wnt1, pituitary tumor-transforming gene 1 binding factor, Cut-like homeobox 1, and c-myc, are involved in hepatocarcinogenesis, epithelial mesenchymal transition, and angiogenesis.", "output": {"entities": {"gene": [{"text": "CUTL1", "start": 182, "end": 187}], "disease": [{"text": "hepatocarcinogenesis", "start": 344, "end": 364}]}, "relations": {}}, "schema": []}
{"input": "Of 93 patients with primary aldosteronism seen during a 20 year period, 52 had an aldosterone-producing adenoma (APA) removed (five more await surgery), 14 had bilateral adrenal hyperplasia (BAH), three had glucocorticoid-suppressible hyperaldosteronism (GSH), one had adrenal carcinoma and 18 are yet to be categorized.", "output": {"entities": {"gene": [{"text": "BAH", "start": 191, "end": 194}], "disease": [{"text": "primary aldosteronism", "start": 20, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "IL-9 and IL-9 receptor expression in airway epithelial cells and bronchoalveolar lavage cells obtained at bronchoscopy of healthy (n = 9) and mild intermittent asthmatic individuals (n = 7) were studied by Northern analyses and reverse-transcription polymerase chain reaction technique.", "output": {"entities": {"gene": [{"text": "IL-9", "start": 0, "end": 4}], "disease": [{"text": "mild", "start": 142, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "It is suggested that the whole-cell pertussis present in DTP vaccine, acting as an excessive stimulus in these patients, produced symptoms reminiscent of biologic responses to circulating proinflammatory monokines such as IL-1beta, TNF-alpha, and IL-6 because earlier it was reported that in vitro the whole-cell vaccine induced significantly more such cytokine production than did the acellular pertussis or diphtheria-tetanus-only vaccine.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 247, "end": 251}], "disease": [{"text": "tetanus", "start": 420, "end": 427}]}, "relations": {}}, "schema": []}
{"input": "BRCA1 mutations cause homologous recombination (HR)-mediated DNA repair deficiency, genomic instability, and DNA-damaging agent hypersensitivity.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "genomic instability", "start": 84, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We previously reported that a T-786--> C polymorphism in the 5'-flanking region of the endothelial nitric oxide synthase gene and smoking were independently associated with coronary spasm; however, the interaction between this polymorphism and smoking remains to be elucidated.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 87, "end": 120}], "disease": [{"text": "smoking", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Here we analyze hypoxic signaling through MAPK kinases to AP-1/c-Jun in the HT29 colon adenocarcinoma cell line, and observe activation of stress-activated pathways mediated predominantly by SEK1 and MKK7.", "output": {"entities": {"gene": [{"text": "MKK7", "start": 200, "end": 204}], "disease": [{"text": "hypoxic", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Carotid atherosclerosis (CA) is one of the most common causes of stroke, and recent studies suggest that pathways initiated by the interaction of the plasma vitamin K-dependent protein GAS6 with the tyrosine kinase receptors TYRO3, AXL and MERTK (TAM) may have a relevant role in atherogenesis.", "output": {"entities": {"gene": [{"text": "MERTK", "start": 240, "end": 245}], "disease": [{"text": "atherogenesis", "start": 280, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Even in the rabbit ischemia model, cotransfection of HGF plasmid with the prostacyclin synthase gene demonstrated a further increase in angiogenic activity compared with HGF alone.", "output": {"entities": {"gene": [{"text": "HGF", "start": 53, "end": 56}], "disease": [{"text": "ischemia", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The magnitude of BK-induced hypotension was significantly attenuated in all rats treated with Hoe 140. 4.", "output": {"entities": {"gene": [{"text": "BK", "start": 17, "end": 19}], "disease": [{"text": "hypotension", "start": 28, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BK", "start": 17, "end": 19}, "tail": {"text": "hypotension", "start": 28, "end": 39}}]}}, "schema": []}
{"input": "The translocation partner of all BCL2 rearrangements was IGH, with IGH-BCL2 fusion in 63% of LG tumours and 18% of HG tumours.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 33, "end": 37}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "No additional mutations in CNGA2 were identified in a cohort of 31 non-related ICA individuals.", "output": {"entities": {"gene": [{"text": "CNGA2", "start": 27, "end": 32}], "disease": [{"text": "ICA", "start": 79, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CNGA2", "start": 27, "end": 32}, "tail": {"text": "ICA", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "Also, a significantly larger proportion of subjects in the schizophrenia group had elevated FAS receptor expression in the DLPFC relative to unaffected controls.", "output": {"entities": {"gene": [{"text": "FAS", "start": 92, "end": 95}], "disease": [{"text": "schizophrenia", "start": 59, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FAS", "start": 92, "end": 95}, "tail": {"text": "schizophrenia", "start": 59, "end": 72}}]}}, "schema": []}
{"input": "This mutation prevents hepatitis B e antigen production by introducing a TAG stop codon and has been associated with severe chronic and fulminant hepatitis.", "output": {"entities": {"gene": [{"text": "TAG", "start": 73, "end": 76}], "disease": [{"text": "fulminant hepatitis", "start": 136, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of endothelial nitric oxide synthase and caveolin-1 in the aorta of rats with isoproterenol-induced cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "caveolin-1", "start": 62, "end": 72}], "disease": [{"text": "cardiac hypertrophy", "start": 121, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caveolin-1", "start": 62, "end": 72}, "tail": {"text": "cardiac hypertrophy", "start": 121, "end": 140}}]}}, "schema": []}
{"input": "Moreover, the correlation between TS, DPD and TP expression and cytotoxicity of 5-fluorouracil was evaluated in Colo 320, HT-29, CaCo-2 and SW620 human CRC cell lines.", "output": {"entities": {"gene": [{"text": "TP", "start": 46, "end": 48}], "disease": [{"text": "CRC", "start": 152, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TP", "start": 46, "end": 48}, "tail": {"text": "CRC", "start": 152, "end": 155}}]}}, "schema": []}
{"input": "Accumulation of CD4 + lymphocytes in leptomeninges and perivascular spaces was a prominent feature in RE specimens resected within a year of seizure onset.", "output": {"entities": {"gene": [{"text": "CD4", "start": 16, "end": 19}], "disease": [{"text": "seizure", "start": 141, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We propose that ARB is the null phenotype of bestrophin-1 in humans.", "output": {"entities": {"gene": [{"text": "bestrophin-1", "start": 45, "end": 57}], "disease": [{"text": "ARB", "start": 16, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "bestrophin-1", "start": 45, "end": 57}, "tail": {"text": "ARB", "start": 16, "end": 19}}]}}, "schema": []}
{"input": "MED1 mutations have been associated with microsatellite instability and accelerated colorectal cancer (CRC) tumorigenesis.", "output": {"entities": {"gene": [{"text": "MED1", "start": 0, "end": 4}], "disease": [{"text": "microsatellite instability", "start": 41, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The homozygous variants of hOGG1 G2657A, APEX1 D148E and XRCC1 R194W polymorphisms all showed a weak but significant effect on overall survival as demonstrated by either log rank test or multivariate COX regression after adjusting for other potential confounders.", "output": {"entities": {"gene": [{"text": "hOGG1", "start": 27, "end": 32}], "disease": [{"text": "regression", "start": 204, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein.", "output": {"entities": {"gene": [{"text": "coagulation factor VIII", "start": 68, "end": 91}], "disease": [{"text": "hemophilia A", "start": 21, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor VIII", "start": 68, "end": 91}, "tail": {"text": "hemophilia A", "start": 21, "end": 33}}]}}, "schema": []}
{"input": "METHODS AND RESULTS: By whole-exome sequencing, we identified a homozygous WWOX nonsense mutation, p. Arg54 *, in a girl from a consanguineous family with a severe syndrome of growth retardation, microcephaly, epileptic seizures, retinopathy and early death, a phenotype highly similar to the abormalities reported in lde/lde rats with a spontaneous functional null mutation of Wwox.", "output": {"entities": {"gene": [{"text": "Wwox", "start": 378, "end": 382}], "disease": [{"text": "growth retardation", "start": 176, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that impaired hyperemia by SP during acid challenge of the gastric mucosa may be mediated by a mast cell-dependent mechanism involving the release of proteases from mast cells.", "output": {"entities": {"gene": [{"text": "SP", "start": 46, "end": 48}], "disease": [{"text": "hyperemia", "start": 33, "end": 42}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SP", "start": 46, "end": 48}, "tail": {"text": "hyperemia", "start": 33, "end": 42}}]}}, "schema": []}
{"input": "The overexpression of miR-126 in CD4 + T cells from healthy donors caused the demethylation and up-regulation of genes encoding CD11a and CD70, thereby causing T cell and B cell hyperactivity.", "output": {"entities": {"gene": [{"text": "CD4", "start": 33, "end": 36}], "disease": [{"text": "hyperactivity", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Association of endothelial nitric oxide synthase polymorphism G894T with functional outcome in acute stroke patients.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 15, "end": 48}], "disease": [{"text": "acute stroke", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 26, "end": 31}], "disease": [{"text": "pituitary hormone deficiency", "start": 38, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCNQ1", "start": 26, "end": 31}, "tail": {"text": "pituitary hormone deficiency", "start": 38, "end": 66}}]}}, "schema": []}
{"input": "Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene.", "output": {"entities": {"gene": [{"text": "prion protein", "start": 203, "end": 216}], "disease": [{"text": "CJD", "start": 83, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "prion protein", "start": 203, "end": 216}, "tail": {"text": "CJD", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "Denaturing high-performance liquid chromatography and direct sequencing of polymerase-chain-reaction products amplified from 10 genetically independent patients with USH2C and 156 other patients with USH2 identified four isoform-specific VLGR1 mutations (Q2301X, I2906FS, M2931FS, and T6244X) from three families with USH2C, as well as two sporadic cases.", "output": {"entities": {"gene": [{"text": "USH2", "start": 166, "end": 170}], "disease": [{"text": "sporadic", "start": 340, "end": 348}]}, "relations": {}}, "schema": []}
{"input": "Sequence analysis of germ-line DNA from MEN 2B patients revealed the existence of the same point mutation in the RET protooncogene in 34 unrelated individuals.", "output": {"entities": {"gene": [{"text": "RET", "start": 113, "end": 116}], "disease": [{"text": "MEN 2B", "start": 40, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 113, "end": 116}, "tail": {"text": "MEN 2B", "start": 40, "end": 46}}]}}, "schema": []}
{"input": "NR0B1 is required for the oncogenic phenotype mediated by EWS/FLI in Ewing' s sarcoma.", "output": {"entities": {"gene": [{"text": "NR0B1", "start": 0, "end": 5}], "disease": [{"text": "sarcoma", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the exon 19 of EGFR gene were higher in female, non-smoking and adenocarcinoma patients.", "output": {"entities": {"gene": [{"text": "EGFR gene", "start": 28, "end": 37}], "disease": [{"text": "smoking", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We investigated the genetic polymorphisms of CYP1A1, CYP2E1 and GSTM1 in Japanese esophageal cancer patients (n = 53) with a histological diagnosis of squamous-cell carcinoma, to determine whether susceptibility to esophageal cancer is associated with these polymorphisms.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 64, "end": 69}], "disease": [{"text": "carcinoma", "start": 165, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "A total of 180 CF' s patients were included in this study, which investigated polymorphisms in GCLC and GST genes (GCLC-129C > T and-3506A > G; GSTM1 and GSTT1 genes deletion, and GSTP1 * + 313A > G) by PCR and PCR-RFLP associating to clinical variables of CF severity, including variables of sex, clinical scores [Shwachman-Kulczycki, Kanga e Bhalla (BS)], body mass index, patient age, age for diagnosis, first clinical symptoms, first colonization by Pseudomonas aeruginosa, sputum' s microorganisms, hemoglobin oxygen saturation in the blood, spirometry and comorbidities.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 154, "end": 159}], "disease": [{"text": "body mass index", "start": 358, "end": 373}]}, "relations": {}}, "schema": []}
{"input": "We sequenced all of the 15 exons of FUS in 10 familial ALS pedigrees, exons 5, 6, 14, and 15 in 210 patients with sporadic ALS and 151 healthy controls.", "output": {"entities": {"gene": [{"text": "FUS", "start": 36, "end": 39}], "disease": [{"text": "sporadic", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Our results support the hypothesis that CYP1A1 protects against hyperoxic lung injury by decreasing oxidative stress.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 40, "end": 46}], "disease": [{"text": "lung injury", "start": 74, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A1", "start": 40, "end": 46}, "tail": {"text": "lung injury", "start": 74, "end": 85}}]}}, "schema": []}
{"input": "These results suggest that LRRK2 and tau do not interact to exacerbate behavioral, biochemical or pathological abnormalities in neurodegeneration and that LRRK2 and tau exert their pathogenic effects through independent mechanisms.", "output": {"entities": {"gene": [{"text": "LRRK2", "start": 27, "end": 32}], "disease": [{"text": "abnormalities", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "With STP, GTCS were reduced more than 50% in 14 of 23 patients (61%), including 2 who became seizure-free, in the early period.", "output": {"entities": {"gene": [{"text": "STP", "start": 5, "end": 8}], "disease": [{"text": "seizure", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Chromosome analysis of the bone marrow showed 49, XX, der (1; 7) (q10; p10), + 8, + 19, + 21 in therapy-related myelodysplastic syndrome with additional chromosomes 8, and 12 and two additional chromosomes 21 in acute leukemia.", "output": {"entities": {"gene": [{"text": "q10", "start": 66, "end": 69}], "disease": [{"text": "acute leukemia", "start": 212, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Forced activation of Nrf2 by adenoviral over-expression of Nrf2 inhibited the increased ERK activity and recovered the blunted insulin sensitivity on glucose uptake in cardiomyocytes that were chronically treated with H (2) O (2).", "output": {"entities": {"gene": [{"text": "ERK", "start": 88, "end": 91}], "disease": [{"text": "insulin sensitivity", "start": 127, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Mcl-1 down-regulation potentiates ABT-737 lethality by cooperatively inducing Bak activation and Bax translocation.", "output": {"entities": {"gene": [{"text": "Mcl-1", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.", "output": {"entities": {"gene": [{"text": "HSAS", "start": 101, "end": 105}], "disease": [{"text": "MASA syndrome", "start": 82, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSAS", "start": 101, "end": 105}, "tail": {"text": "MASA syndrome", "start": 82, "end": 95}}]}}, "schema": []}
{"input": "Immunohistochemical analysis for CD31, SDF-1, and CXCR4 was performed on mouse eyes 2 weeks after the initiation of laser rupture of Bruch' s membrane, a choroidal neovascularization (CNV) model.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 50, "end": 55}], "disease": [{"text": "choroidal neovascularization", "start": 154, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "IKBKAP", "start": 222, "end": 228}], "disease": [{"text": "hyperlipidemia", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "ERLIN2 is preferably expressed in human breast cancer cells or hepatoma cells and is inducible by insulin signalling or when cells are cultured in lipoprotein-deficient medium.", "output": {"entities": {"gene": [{"text": "ERLIN2", "start": 0, "end": 6}], "disease": [{"text": "hepatoma", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "As increased mRNA expression of LI-cadherin was associated with distant metastasis and lymphatic invasion especially in the biopsy specimen of advanced gastric cancer before surgery, it may provide useful preoperative information on tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "LI-cadherin", "start": 32, "end": 43}], "disease": [{"text": "aggressiveness", "start": 239, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "The results for NTRK3 as well as the authors' previous finding for association to brain-derived neurotrophic factor in this sample support synaptic plasticity as a mechanism contributing to mood disorders that begin during childhood and adolescence and specifically implicate the NTRK3 gene as a contributing factor in the 15q-linked region.", "output": {"entities": {"gene": [{"text": "NTRK3", "start": 16, "end": 21}], "disease": [{"text": "mood disorders", "start": 190, "end": 204}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NTRK3", "start": 16, "end": 21}, "tail": {"text": "mood disorders", "start": 190, "end": 204}}]}}, "schema": []}
{"input": "Rapid detection of 17p11. 2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.", "output": {"entities": {"gene": [{"text": "FISH", "start": 46, "end": 50}], "disease": [{"text": "peripheral neuropathies", "start": 145, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The GDF-5 gene is one of the few growth factor genes that have been found to be associated with IDD thus far; moreover, the GDF-5 gene defects lead to collagen and proteoglycan abnormalities in discs in mice, suggesting that GDF-5 contributes to the structural and functional maintenance of the IVD.", "output": {"entities": {"gene": [{"text": "IVD", "start": 295, "end": 298}], "disease": [{"text": "abnormalities", "start": 177, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "In mice, it induces serum amyloid A, potentiates the induction by IL-1 of corticosterone and IL-6, and causes body weight loss and B cell hyperplasia with serum IgG and IgM increase.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 93, "end": 97}], "disease": [{"text": "hyperplasia", "start": 138, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "These findings provide further evidence that mutation of HRPT2 is associated with the formation of parathyroid tumors in HPT-JT syndrome.", "output": {"entities": {"gene": [{"text": "HRPT2", "start": 57, "end": 62}], "disease": [{"text": "HPT-JT", "start": 121, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRPT2", "start": 57, "end": 62}, "tail": {"text": "HPT-JT", "start": 121, "end": 127}}]}}, "schema": []}
{"input": "Furthermore, oxidative stress induces nucleocytoplasmic translocation of PDX-1 through activation of the c-Jun N-terminal kinase (JNK) pathway, which leads to suppression of insulin gene expression.", "output": {"entities": {"gene": [{"text": "PDX-1", "start": 73, "end": 78}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We initially examined Endoglin and Hydroxy-nonenal-(HNE)-modified proteins in the placentas and amnion obtained from women with pre-eclampsia (n = 8), and healthy controls (n = 8) by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "HNE", "start": 52, "end": 55}], "disease": [{"text": "pre-eclampsia", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "However, BIM deletion polymorphism, line of treatment, EGFR genotype, and smoking were not predictive of PFS for EGFR TKIs.", "output": {"entities": {"gene": [{"text": "BIM", "start": 9, "end": 12}], "disease": [{"text": "smoking", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We show that xerosis and hyperkeratosis on the dorsal aspects of the hands and fingers, as well as palmar hyperlinearity, should alert the clinician about a possible inherited barrier abnormality of the skin resulting from FLG mutations.", "output": {"entities": {"gene": [{"text": "FLG", "start": 223, "end": 226}], "disease": [{"text": "xerosis", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Herein, the levels of five serum miRNAs, namely, miR-182, miR-331-3p, miR-197, miR-492, and miR-581, were detected in 103 HCC patients, 95 benign liver diseases, and 40 healthy controls using real-time PCR technique.", "output": {"entities": {"gene": [{"text": "HCC", "start": 122, "end": 125}], "disease": [{"text": "liver diseases", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Cardiac-specific ablation of ARNT leads to lipotoxicity and cardiomyopathy.", "output": {"entities": {"gene": [{"text": "ARNT", "start": 29, "end": 33}], "disease": [{"text": "cardiomyopathy", "start": 60, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Recent genome-wide association study also demonstrated that CDH7 was significant associated with bipolar disorder.", "output": {"entities": {"gene": [{"text": "CDH7", "start": 60, "end": 64}], "disease": [{"text": "bipolar disorder", "start": 97, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH7", "start": 60, "end": 64}, "tail": {"text": "bipolar disorder", "start": 97, "end": 113}}]}}, "schema": []}
{"input": "These results suggest the possible contribution of DSCAM gene in bipolar disorder, and warrant further investigations.", "output": {"entities": {"gene": [{"text": "DSCAM", "start": 51, "end": 56}], "disease": [{"text": "bipolar disorder", "start": 65, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DSCAM", "start": 51, "end": 56}, "tail": {"text": "bipolar disorder", "start": 65, "end": 81}}]}}, "schema": []}
{"input": "MTS is related to hereditary non-polyposis colorectal cancer (HNPCC), a syndrome with germline mutations in the mismatch repair (MMR) gene (s), leading to microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 129, "end": 132}], "disease": [{"text": "microsatellite instability", "start": 155, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Among 20 colon cancer cell lines, hypermethylation was subsequently identified for three of four analyzed genes, ADAMTS1 (85%), CRABP1 (90%), and NR3C1 (35%).", "output": {"entities": {"gene": [{"text": "CRABP1", "start": 128, "end": 134}], "disease": [{"text": "colon cancer", "start": 9, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Each novel missense mutation occurred at a highly conserved residue, no other candidate mutation was detected on screening the entire coding region of the FVIII gene and they were not detected in a screen of individuals without haemophilia A.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 155, "end": 160}], "disease": [{"text": "haemophilia A", "start": 228, "end": 241}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 155, "end": 160}, "tail": {"text": "haemophilia A", "start": 228, "end": 241}}]}}, "schema": []}
{"input": "We evaluated the performance of a multiprobe FISH (fluorescence in situ hybridization) assay for noninvasive detection of upper urinary tract transitional cell carcinoma (UUT-TCC) in patients with asymptomatic hematuria and negative urine cytology.", "output": {"entities": {"gene": [{"text": "FISH", "start": 45, "end": 49}], "disease": [{"text": "asymptomatic", "start": 197, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "All dual-translocation FLs were CD10 +/BCL6 +/BCL2 +/MUM1-, and the DLBCLs demonstrated \" activated \" germinal center (CD10 +/BCL6 +/MUM1 +) and non-germinal center (CD10-/BCL6 +/MUM1 +) phenotypes.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 46, "end": 50}], "disease": [{"text": "translocation", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Hepatic steady-state NTCP mRNA levels in a group of 23 pre-and postportoenterostomy biliary atresia patients were inversely related to total bilirubin, indicating that extrahepatic bile duct obstruction leads to down-regulation of NTCP mRNA levels, similar to that observed in rat common bile duct ligation.", "output": {"entities": {"gene": [{"text": "NTCP", "start": 21, "end": 25}], "disease": [{"text": "biliary atresia", "start": 84, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Thus, we sought to determine the effects of polymorphisms in COMT and functionally related pain genes in the COMT pathway (estrogen receptor 1 [ESR1], guanosine-5-triphosphate cyclohydrolase 1 [GCH1], methylenetetrahydrofolate reductase [MTHFR]) on COMT enzymatic activity, musculoskeletal pain, and pain-related intermediate phenotypes among TMD cases and healthy control subjects.", "output": {"entities": {"gene": [{"text": "GCH1", "start": 194, "end": 198}], "disease": [{"text": "musculoskeletal pain", "start": 274, "end": 294}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GCH1", "start": 194, "end": 198}, "tail": {"text": "musculoskeletal pain", "start": 274, "end": 294}}]}}, "schema": []}
{"input": "Literature search was conducted on PubMed using combinations of the following terms: ABC transporters, ATP binding cassette transporter proteins, inflammatory bowel disease, ulcerative, colitis, Crohn' s disease, colorectal cancer, colitis, intestinal inflammation, intestinal carcinogenesis, ABCB1/P-glycoprotein (P-gp/CD243/MDR1), ABCC2/multidrug resistance protein 2 (MRP2) and ABCG2/breast cancer resistance protein (BCRP), Abcb1/Mdr1a, abcc2/Mrp2, abcg2/Bcrp, knock-out mice, tight junction, membrane lipid function.", "output": {"entities": {"gene": [{"text": "Mrp2", "start": 447, "end": 451}], "disease": [{"text": "inflammatory bowel disease", "start": 146, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Importantly, inhibition of JNK2 led to a decrease of Notch-2 expression and suppressed the CD133 (+)/Nestin (+) cell population in patient-derived primary glioma cells.", "output": {"entities": {"gene": [{"text": "JNK2", "start": 27, "end": 31}], "disease": [{"text": "glioma", "start": 155, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of LIF in cholangiocarcinoma, we evaluated the expression of LIF and its receptor (LIFR) in human samples.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 107, "end": 111}], "disease": [{"text": "cholangiocarcinoma", "start": 34, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that Tax1 and Tax2 could promote innate immunity in the extracellular environment during HTLV-1 and HTLV-2 infections via CC-chemokine ligands and receptors.", "output": {"entities": {"gene": [{"text": "Tax1", "start": 27, "end": 31}], "disease": [{"text": "infections", "start": 129, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We sequenced SEPN1 in five unrelated CFTD patients with scoliosis and respiratory muscle weakness and screened an additional 22 CFTD patients for abnormalities in SEPN1 by Western blotting and restriction digest for the 943G--> A mutation.", "output": {"entities": {"gene": [{"text": "SEPN1", "start": 13, "end": 18}], "disease": [{"text": "abnormalities", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "A mutation in the 5' untranslated region (UTR) of CDKN2A generates a novel upstream initiation codon that abrogates expression of p16, and a common polymorphism in the 3' UTR is associated with increasing familial risk of melanoma.", "output": {"entities": {"gene": [{"text": "UTR", "start": 42, "end": 45}], "disease": [{"text": "melanoma", "start": 222, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "It is reported that PAR-2 expression is significantly increased in human renal cell carcinoma (RCC) tissue compared with the adjacent non-neoplastic kidney tissue.", "output": {"entities": {"gene": [{"text": "PAR", "start": 20, "end": 23}], "disease": [{"text": "non-neoplastic", "start": 134, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We searched for mutations in the ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in 65 myelodysplastic syndromes (MDSs) and 64 acute myeloid leukemias (AMLs) without balanced translocation or complex karyotype.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 87, "end": 92}], "disease": [{"text": "translocation", "start": 207, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge, the present study is the first to demonstrate that impaired peripheral nerve IR signaling, as indicated by decreased phosphorylated: total IR protein ratio, coincides with early mechanical hyperalgesia and thermal hypoalgesia in STZ-diabetic rats.", "output": {"entities": {"gene": [{"text": "IR", "start": 95, "end": 97}], "disease": [{"text": "mechanical hyperalgesia", "start": 196, "end": 219}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IR", "start": 95, "end": 97}, "tail": {"text": "mechanical hyperalgesia", "start": 196, "end": 219}}]}}, "schema": []}
{"input": "Gain-and loss-of-function studies in A431 SCC cells demonstrate T-cad-controlled responsiveness to EGF with respect to pharmacological inhibition of EGFR and to diverse signaling and functional events of the EGFR activation cascade (EGFR phosphorylation, internalization, nuclear translocation, cell retraction/de-adhesion, motility, invasion, integrin β1, and Rho small GTPases such as RhoA, Rac1, and Cdc42 activation).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 149, "end": 153}], "disease": [{"text": "adhesion", "start": 314, "end": 322}]}, "relations": {}}, "schema": []}
{"input": "The 8; 21 chromosomal translocation involves the AML1 gene on chromosome 21 and the ETO gene on chromosome 8 and results in the transcription of a chimeric message.", "output": {"entities": {"gene": [{"text": "AML1", "start": 49, "end": 53}], "disease": [{"text": "chromosomal translocation", "start": 10, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Mutations in BRAF and KRAS differentially distinguish serrated versus non-serrated hyperplastic aberrant crypt foci in humans.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 13, "end": 17}], "disease": [{"text": "aberrant crypt foci", "start": 96, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "There was a trend toward a stronger protective effect of SNPs at the PARK16 locus in sporadic PD compared to familial cases and in older compared to younger subjects.", "output": {"entities": {"gene": [{"text": "PARK16", "start": 69, "end": 75}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Our results support functional interactions between cisplatin and ATP7B but argue against the active transport through the copper translocation pathway as a mechanism of drug resistance.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 66, "end": 71}], "disease": [{"text": "translocation", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "RNAi significantly suppresses expression of VEGF induced by hypoxia in human corneal epithelial cells in vitro.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 44, "end": 48}], "disease": [{"text": "hypoxia", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.", "output": {"entities": {"gene": [{"text": "myomaker", "start": 51, "end": 59}], "disease": [{"text": "Carey-Fineman-Ziter syndrome", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myomaker", "start": 51, "end": 59}, "tail": {"text": "Carey-Fineman-Ziter syndrome", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "Our observations expand the range of OCRL1 mutations that cause Lowe syndrome, and will be useful for genetic counseling in these two families.", "output": {"entities": {"gene": [{"text": "OCRL1", "start": 37, "end": 42}], "disease": [{"text": "Lowe syndrome", "start": 64, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCRL1", "start": 37, "end": 42}, "tail": {"text": "Lowe syndrome", "start": 64, "end": 77}}]}}, "schema": []}
{"input": "Preferential inactivation of the X chromosome with the mutated MECP2 gene is found in mildly symptomatic or asymptomatic carrier females.", "output": {"entities": {"gene": [{"text": "MECP2 gene", "start": 63, "end": 73}], "disease": [{"text": "asymptomatic", "start": 108, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The highest risk of thrombosis was carried by the simultaneous presence of lupus anticoagulant (LA) and anti-cardiolipin (aCL) [relative risk (RR) = 4. 03, 95% confidence interval (CI) 2. 06-7. 86] or anti-beta2-glycoprotein I antibodies (abeta2-GPI) (RR = 5. 10, 95% CI 2. 58-10. 1).", "output": {"entities": {"gene": [{"text": "GPI", "start": 246, "end": 249}], "disease": [{"text": "lupus anticoagulant", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.", "output": {"entities": {"gene": [{"text": "TSR2", "start": 105, "end": 109}], "disease": [{"text": "Diamond-Blackfan anemia", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSR2", "start": 105, "end": 109}, "tail": {"text": "Diamond-Blackfan anemia", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "Two mesothelioma (M14K, M38K) and one non-neoplastic mesothelial cell line (MET-5A) were studied for eNOS mRNA expression by reverse transcriptase-polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "MET", "start": 76, "end": 79}], "disease": [{"text": "non-neoplastic", "start": 38, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Of the up-regulated genes, 40% were implicated in cell cycle regulation and apoptosis and included cyclin G1 and cyclin I, p21-activated kinase-1 (PAK-1), p53, retinoblastoma like-2 [Rb2 (p130)], insulin-like growth factor binding protein-5 (IGFBP5) and caspases.", "output": {"entities": {"gene": [{"text": "cyclin I", "start": 113, "end": 121}], "disease": [{"text": "retinoblastoma", "start": 160, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Factor V Leiden presents not a major role as risk factor for arterial thrombosis, while it is present in 18% of Caucasian patients with venous thrombosis.", "output": {"entities": {"gene": [{"text": "Factor V Leiden", "start": 0, "end": 15}], "disease": [{"text": "arterial thrombosis", "start": 61, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Hepatocyte IKKbeta/NF-kappaB inhibits tumor promotion and progression by preventing oxidative stress-driven STAT3 activation.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 19, "end": 28}], "disease": [{"text": "tumor promotion", "start": 38, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The t (12; 21) (p13; q22) ETV6-RUNX1 gene fusion is one of the most common chromosomal translocation in childhood acute lymphoblastic leukemia (ALL).", "output": {"entities": {"gene": [{"text": "RUNX1 gene", "start": 31, "end": 41}], "disease": [{"text": "chromosomal translocation", "start": 75, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridisation (FISH) was used to study 60 cases with leukaemic presentation of MCL, to determine the frequency, clinical correlations and prognostic impact of a panel of molecular cytogenetic abnormalities: 17p13 (TP53 locus), 13q14, 12 p11. 1-q11 (centromere), 6q21 and 11q23.", "output": {"entities": {"gene": [{"text": "p11", "start": 258, "end": 261}], "disease": [{"text": "cytogenetic abnormalities", "start": 201, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Expression of proapoptotic Bax, antiapoptotic Bcl-2 and Bcl-xL, nuclear proliferation protein MiB-1, and hypoxia-inducible factor 1alpha (Hif-1alpha) in peri-ischemic areas of the embolized angiofibromas was also assessed.", "output": {"entities": {"gene": [{"text": "MiB-1", "start": 94, "end": 99}], "disease": [{"text": "angiofibromas", "start": 190, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for age, sex, stage, pack-years of smoking, and histologic subtype, the MMP-12 1082A/G polymorphism remained significantly associated with survival outcomes [adjusted HR (AHR) for OS, 1. 94; 95% CI, 1. 28-2. 97, P = 0. 002; AHR for RFS, 1. 61; 95% CI, 1. 07-2. 41, P = 0. 02].", "output": {"entities": {"gene": [{"text": "AHR", "start": 187, "end": 190}], "disease": [{"text": "smoking", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Conditioned medium from the intermittent hypoxia-exposed neuroblastoma cells was found to enhance osteoclastogenesis, up-regulate the mRNAs of osteoclast marker genes including TRAP, CaSR and cathepsin K and induce the activation of ERK, JNK, and p38 in RAW 264. 7 cells.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 192, "end": 203}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.", "output": {"entities": {"gene": [{"text": "VHL", "start": 17, "end": 20}], "disease": [{"text": "VHL", "start": 92, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VHL", "start": 17, "end": 20}, "tail": {"text": "VHL", "start": 92, "end": 95}}]}}, "schema": []}
{"input": "Prodynorphin, the precursor of the dynorphin opioid peptides, has been shown to play an important role in several aspects of human diseases and complex traits, e. g., drug abuse, epilepsy, and mood disorders.", "output": {"entities": {"gene": [{"text": "Prodynorphin", "start": 0, "end": 12}], "disease": [{"text": "mood disorders", "start": 193, "end": 207}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Prodynorphin", "start": 0, "end": 12}, "tail": {"text": "mood disorders", "start": 193, "end": 207}}]}}, "schema": []}
{"input": "Since this discrepancy may be due to the removal of calcium during purification, we have expressed wild-type COMP and the most common mutant form found in pseudoachondroplasia, MUT3, using a mammalian expression system and have purified both proteins in the presence of calcium.", "output": {"entities": {"gene": [{"text": "COMP", "start": 109, "end": 113}], "disease": [{"text": "pseudoachondroplasia", "start": 155, "end": 175}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COMP", "start": 109, "end": 113}, "tail": {"text": "pseudoachondroplasia", "start": 155, "end": 175}}]}}, "schema": []}
{"input": "In conclusion, DRD3 gene polymorphism is unlikely to play a substantial role in conferring susceptibility to DAT, but it may be involved in the development of paranoid and delusional ideation during the course of mild DAT.", "output": {"entities": {"gene": [{"text": "DRD3 gene", "start": 15, "end": 24}], "disease": [{"text": "mild", "start": 213, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate the clinical usefulness of a panel of beta2 integrins (CD11a, CD11b and CD11c) in accurate prediction of AML-M3, and recommend inclusion of this immunophenotypic analysis to identify patients who require ATRA therapy.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 70, "end": 75}], "disease": [{"text": "AML-M3", "start": 120, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD11a", "start": 70, "end": 75}, "tail": {"text": "AML-M3", "start": 120, "end": 126}}]}}, "schema": []}
{"input": "Functional studies of ECCL fibroblast cell lines show increased levels of phosphorylated FGFRs and phosphorylated FRS2, a direct substrate of FGFR1, as well as constitutive activation of RAS-MAPK signaling.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 142, "end": 147}], "disease": [{"text": "ECCL", "start": 22, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR1", "start": 142, "end": 147}, "tail": {"text": "ECCL", "start": 22, "end": 26}}]}}, "schema": []}
{"input": "A total of four single nucleotide polymorphisms (SNPs) in the genes UCP1, UCP2, UCP3, and ADRB1 were examined for association with obesity and insulin sensitivity (HOMA (IR)) in obese (n = 292) and healthy non-obese (n = 481) females.", "output": {"entities": {"gene": [{"text": "ADRB1", "start": 90, "end": 95}], "disease": [{"text": "insulin sensitivity", "start": 143, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Antenatal dexamethasone suppresses tumor necrosis factor-alpha expression in hypoplastic lung in nitrofen-induced diaphragmatic hernia in rats.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor-alpha", "start": 35, "end": 62}], "disease": [{"text": "diaphragmatic hernia", "start": 114, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor-alpha", "start": 35, "end": 62}, "tail": {"text": "diaphragmatic hernia", "start": 114, "end": 134}}]}}, "schema": []}
{"input": "CD4 + T cells of either Th1 or Th2 type also have regulatory functions in human P. falciparum malaria.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "falciparum malaria", "start": 83, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "A chromosomal translocation t (14; 18) was demonstrated by comigration of rearranged bcl-2 and JH sequences in one of these two cases.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 85, "end": 90}], "disease": [{"text": "chromosomal translocation", "start": 2, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We have found that the probability of the privileged conformations of hPPO can be correlated very well with the k (cat)/K (m) of PPO (correlation coefficient, R (2) & gt; 0. 9), and the catalytic activity of 44 clinically reported VP-causing mutants can be accurately predicted.", "output": {"entities": {"gene": [{"text": "PPO", "start": 71, "end": 74}], "disease": [{"text": "VP", "start": 231, "end": 233}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PPO", "start": 71, "end": 74}, "tail": {"text": "VP", "start": 231, "end": 233}}]}}, "schema": []}
{"input": "In this study, we characterized the high-risk neuroblastoma association at the BRCA1-related locus, BARD1, showing that disease-associated variations correlate with increased expression of the oncogenically activated isoform, BARD1β.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 79, "end": 84}], "disease": [{"text": "high-risk neuroblastoma", "start": 36, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "IGF-1 and the chemical hypoxia agent, cobalt chloride, each stimulated VEGF secretion and VEGF promoter activation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 71, "end": 75}], "disease": [{"text": "hypoxia", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Kynurenine Signaling Increases DNA Polymerase Kappa Expression and Promotes Genomic Instability in Glioblastoma Cells.", "output": {"entities": {"gene": [{"text": "DNA Polymerase Kappa", "start": 31, "end": 51}], "disease": [{"text": "Glioblastoma", "start": 99, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNA Polymerase Kappa", "start": 31, "end": 51}, "tail": {"text": "Glioblastoma", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "While we do not find a relationship with CAG and GGN repeats haplotypes and male infertility, we report for the first time a unique and wider distribution of the GGN allele in the Nigerian population which is significantly different from the Caucasian population.", "output": {"entities": {"gene": [{"text": "GGN", "start": 49, "end": 52}], "disease": [{"text": "male infertility", "start": 76, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "It has been described that in contrast to p53, p63 seems not to be associated with tumor predisposition, as neither p63 knockout mouse models nor germline p63 mutations are related to an increased risk of tumorigenesis.", "output": {"entities": {"gene": [{"text": "p63", "start": 47, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 205, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "To ascertain the molecular background of combined pituitary hormone deficiency, screening for mutations in the pituitary-specific transcription factor (Pit-1/GHF-1) gene (PIT1) was performed on a cohort of 15 children from Russia with combined growth hormone (GH)/prolactin (Prl)/thyroid-stimulating hormone (TSH) deficiency.", "output": {"entities": {"gene": [{"text": "PIT1", "start": 171, "end": 175}], "disease": [{"text": "pituitary hormone deficiency", "start": 50, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Biallelic loss-of-function mutations in WNT1 result in a recessive clinical picture that includes bone fragility with a moderately severe and progressive presentation that is not easily distinguished from dominant OI type III.", "output": {"entities": {"gene": [{"text": "WNT1", "start": 40, "end": 44}], "disease": [{"text": "OI type III", "start": 214, "end": 225}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT1", "start": 40, "end": 44}, "tail": {"text": "OI type III", "start": 214, "end": 225}}]}}, "schema": []}
{"input": "To determine whether polymorphisms in the FOXP3 gene are associated with preeclampsia.", "output": {"entities": {"gene": [{"text": "FOXP3 gene", "start": 42, "end": 52}], "disease": [{"text": "preeclampsia", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Their features are compared with those of previously reported patients with KBG syndrome aiding in the delineation of neurocognitive phenotype associated to ANKRD11 mutations.", "output": {"entities": {"gene": [{"text": "ANKRD11", "start": 157, "end": 164}], "disease": [{"text": "KBG syndrome", "start": 76, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ANKRD11", "start": 157, "end": 164}, "tail": {"text": "KBG syndrome", "start": 76, "end": 88}}]}}, "schema": []}
{"input": "Furthermore, in HSV infection, the production of inflammatory cytokines is closely correlated with the pathogenesis of herpetic keratitis, and IFN-gamma plays an important role in enhancing viral clearance from the cornea and trigeminal ganglions.", "output": {"entities": {"gene": [{"text": "IFN", "start": 143, "end": 146}], "disease": [{"text": "herpetic keratitis", "start": 119, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "In this study, we tested whether the status of PTEN determined fate of the cell by examining PTEN-deficient U87, U251, and U373, and PTEN-proficient LN18 and LN428 glioma cells after exposure to IR.", "output": {"entities": {"gene": [{"text": "U87", "start": 108, "end": 111}], "disease": [{"text": "glioma", "start": 164, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic dissection (TAAD) and patent ductus arteriosus (PDA) and mapped the disease locus to 16p12. 2-p13. 13 (ref.", "output": {"entities": {"gene": [{"text": "p13", "start": 184, "end": 187}], "disease": [{"text": "patent ductus arteriosus", "start": 112, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study is to perform the molecular analysis of HESX1, PROP1, POU1F1, and CTNNB1 genes and evaluate a panel of miRNA expression in craniopharyngioma.", "output": {"entities": {"gene": [{"text": "HESX1", "start": 68, "end": 73}], "disease": [{"text": "craniopharyngioma", "start": 151, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The major goal of the present study was to determine whether endogenous HRG causes autocrine/paracrine activation of ErbB-2/ErbB-3 and contributes to the proliferation of mammary epithelial tumor cells.", "output": {"entities": {"gene": [{"text": "HRG", "start": 72, "end": 75}], "disease": [{"text": "epithelial tumor", "start": 179, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Megakaryocyte analysis of a follow-up of eight individual cases with sequential biopsies, however, showed that progression to homozygosity of V617F mutated JAK2 and onset of manifest fibrosis appeared to be independent events.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 156, "end": 160}], "disease": [{"text": "fibrosis", "start": 183, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We report the first point mutation in desmin cosegregating with an autosomal dominant form of desmin-related myopathy.", "output": {"entities": {"gene": [{"text": "desmin", "start": 38, "end": 44}], "disease": [{"text": "desmin-related myopathy", "start": 94, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "desmin", "start": 38, "end": 44}, "tail": {"text": "desmin-related myopathy", "start": 94, "end": 117}}]}}, "schema": []}
{"input": "Recurrent VTE was not increased in the presence of factor V Leiden (hazard ratio [HR], 0. 7; 95% CI, 0. 2-2. 6); the 20210G > A prothrombin gene mutation (HR, 0); antithrombin deficiency (HR, 0); elevated factor VIII (HR, 0. 7; 95% CI, 0. 1-5. 4); elevated factor XI (HR, 0. 7; 95% CI, 0. 1-5. 0), or elevated homocysteine (HR, 0. 7; 95% CI, 0. 1-5. 3), but showed a trend to an increase with an antiphospholipid antibody (HR, 2. 9; 95% CI, 0. 8-10. 5).", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 205, "end": 216}], "disease": [{"text": "prothrombin gene mutation", "start": 128, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the transmission incidence of systemic TTR amyloidosis after DLT with a complete clinical, neurological, and pathological assessment.", "output": {"entities": {"gene": [{"text": "DLT", "start": 99, "end": 102}], "disease": [{"text": "amyloidosis", "start": 81, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxia, dexamethasone treatment inhibited HIF-1α protein level and its downstream gene, VEGF mRNA level in the colon cancer cell lines, HCT116 and HT29.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 95, "end": 99}], "disease": [{"text": "hypoxia", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that UNC5D forms a positive feedback loop with p53 and E2F1 to promote NGF dependence-mediated PCD during NB regression.", "output": {"entities": {"gene": [{"text": "E2F1", "start": 72, "end": 76}], "disease": [{"text": "regression", "start": 126, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We used whole-exome sequencing of a parent-offspring trio to identify the cause of early infantile epileptic encephalopathy in a boy with neonatal seizures, movement disorders, and multiple congenital anomalies who died at the age of 17 months because of respiratory illness and identified a de novo heterozygous missense mutation (c. 3979A > G; p. Ile1327Val) in SCN8A (voltage-gated sodium-channel type VIII alpha subunit) gene.", "output": {"entities": {"gene": [{"text": "VIII", "start": 405, "end": 409}], "disease": [{"text": "neonatal seizures", "start": 138, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Reporter and chromatin immunoprecipitation assays identified a previously unrecognized nuclear factor-κB (NF-κB) response element in the TERT promoter, to which NF-κB is recruited during inflammation.", "output": {"entities": {"gene": [{"text": "TERT", "start": 137, "end": 141}], "disease": [{"text": "inflammation", "start": 187, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria.", "output": {"entities": {"gene": [{"text": "SLC4A11", "start": 0, "end": 7}], "disease": [{"text": "corneal endothelial dystrophy", "start": 46, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC4A11", "start": 0, "end": 7}, "tail": {"text": "corneal endothelial dystrophy", "start": 46, "end": 75}}]}}, "schema": []}
{"input": "The non-steroidal anti-inflammatory drugs (NSAIDs) interfere with hypoxia-induced HIF-1α accumulation, VEGF gene activation and angiogenesis through upregulation of von Hippel-Lindau (VHL) tumor suppressor, which activates degradation of HIF-1α protein.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 103, "end": 107}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.", "output": {"entities": {"gene": [{"text": "TBK1", "start": 13, "end": 17}], "disease": [{"text": "herpes simplex encephalitis", "start": 62, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBK1", "start": 13, "end": 17}, "tail": {"text": "herpes simplex encephalitis", "start": 62, "end": 89}}]}}, "schema": []}
{"input": "Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.", "output": {"entities": {"gene": [{"text": "VEGFR3", "start": 71, "end": 77}], "disease": [{"text": "Congenital hereditary lymphedema", "start": 0, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VEGFR3", "start": 71, "end": 77}, "tail": {"text": "Congenital hereditary lymphedema", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "Serum total ADP (T-ADP) levels and its oligomers were measured in EMs during headache-free periods and CDH sufferers at baseline level of pain, as compared with healthy control subjects using ELISA.", "output": {"entities": {"gene": [{"text": "ADP", "start": 12, "end": 15}], "disease": [{"text": "headache", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "At the northern blot mRNA level, 8/15 (53%) megakaryocytic and 3/11 (27%) erythroid leukemia cell lines expressed MPL mRNA; except for one positive monocytic cell line, the remaining 78 pre B-cell, B-cell, plasma cell, T-cell, NK cell, myeloid, monocytic and Hodgkin/anaplastic large cell lymphoma (ALCL)-derived cell lines were negative.", "output": {"entities": {"gene": [{"text": "MPL", "start": 114, "end": 117}], "disease": [{"text": "anaplastic large cell lymphoma", "start": 267, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "In a meta-analysis adjusted for age, sex, smoking, and eigenvectors of population variation, two loci achieved genome-wide significance: 7p21 (P = 2. 4 × 10 (-19)), near AHR, and 15q24 (P = 5. 2 × 10 (-14)), between CYP1A1 and CYP1A2.", "output": {"entities": {"gene": [{"text": "AHR", "start": 170, "end": 173}], "disease": [{"text": "smoking", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "FLNA mutations were found in 100% of familial cases with X-linked PNH (10 families: 8 with classical bilateral PNH, 1 with EDS and 1 with unilateral PH) and in 26% of sporadic patients with classical bilateral PNH.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "NPL regression interaction and ordered subset analysis (OSA) suggested that the evidence for linkage to ESRD significantly increased with higher body mass index (BMI) at 13q33. 3 (LOD = 4. 94 in 61% of families with the highest BMI).", "output": {"entities": {"gene": [{"text": "NPL", "start": 0, "end": 3}], "disease": [{"text": "regression", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "In order to gain insight into the etiology of the observed dramatic increase in Mfs following antineoplastic therapy, we investigated the prevalence of microsatellite instability (MSI), reflective of a defect in DNA mismatch repair (MMR), in children with ALL at diagnosis, during and after chemotherapy and compared them with healthy age-matched controls.", "output": {"entities": {"gene": [{"text": "MMR", "start": 233, "end": 236}], "disease": [{"text": "microsatellite instability", "start": 152, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Because ischemic hypoxia is often followed by reperfusion and reactive oxygen intermediate (ROI) generation, we examined the potential role of ROI in the control of VEGF gene expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 165, "end": 169}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Tetrandrine induces cell death in SAS human oral cancer cells through caspase activation-dependent apoptosis and LC3-I and LC3-II activation-dependent autophagy.", "output": {"entities": {"gene": [{"text": "SAS", "start": 34, "end": 37}], "disease": [{"text": "oral cancer", "start": 44, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "These data provide a novel link between Hsp10/Hsp60 and cardiac protection in doxorubicin cardiomyopathy.", "output": {"entities": {"gene": [{"text": "Hsp60", "start": 46, "end": 51}], "disease": [{"text": "cardiomyopathy", "start": 90, "end": 104}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Hsp60", "start": 46, "end": 51}, "tail": {"text": "cardiomyopathy", "start": 90, "end": 104}}]}}, "schema": []}
{"input": "Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.", "output": {"entities": {"gene": [{"text": "GPIbα", "start": 79, "end": 84}], "disease": [{"text": "adhesion", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that specific genetic variants in a subset of glutamatergic (GRIN2B) and polyaminergic (ODC1) neurosystem genes may be of importance in certain suicidal subjects.", "output": {"entities": {"gene": [{"text": "GRIN2B", "start": 81, "end": 87}], "disease": [{"text": "suicidal", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "An association study of four non-synonymous variants (three found in ADAM22, one in KCNA4) in a population of 104 non-familial lateral temporal epilepsy cases did not show any modification of susceptibility to this disorder.", "output": {"entities": {"gene": [{"text": "KCNA4", "start": 84, "end": 89}], "disease": [{"text": "lateral temporal epilepsy", "start": 127, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Recently, Fgf9-knockout mice exhibited male-to-female sex reversal, demonstrating a novel function for FGF9 in testicular development.", "output": {"entities": {"gene": [{"text": "FGF9", "start": 103, "end": 107}], "disease": [{"text": "sex reversal", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In sarcomas, hypoxia-induced protein biomarkers such as Hypoxia Inducible Factor-1a (HIF-1a), vascular endothelial growth factor (VEGF), and Erythropoietin (Epo) have been previously reported in only a few studies.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 130, "end": 134}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "These data provide first evidence that accelerated ClC-7/Ostm1 gating per se is deleterious, highlighting a physiological importance of the slow voltage-activation of ClC-7/Ostm1 in lysosomal function and bone resorption.", "output": {"entities": {"gene": [{"text": "ClC-7", "start": 51, "end": 56}], "disease": [{"text": "bone resorption", "start": 205, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetic studies point to potential risk loci of psychotic depression shared with schizoaffective disorder (1q42, 22q11, 19p13), depression, bipolar disorder, and schizophrenia (6p, 8p22, 10p13-12, 10p14, 13q13-14, 13q32, 18p, 22q11-13) and several vulnerability genes possibly contributing to an increased risk of psychotic symptoms in depression (eg, BDNF, DBH, DTNBP1, DRD2, DRD4, GSK-3beta, MAO-A).", "output": {"entities": {"gene": [{"text": "MAO-A", "start": 404, "end": 409}], "disease": [{"text": "depression, bipolar disorder", "start": 138, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAO-A", "start": 404, "end": 409}, "tail": {"text": "depression, bipolar disorder", "start": 138, "end": 166}}]}}, "schema": []}
{"input": "The expression of IQGAP1 and RhoC in gastric cancer tissues and cell lines was detected by Western blotting.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 29, "end": 33}], "disease": [{"text": "gastric cancer", "start": 37, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In this review, we discuss newly discovered functions of Roquin-1 in the immune system and inflammation, and in disease manifestation, and discuss avenues of further research.", "output": {"entities": {"gene": [{"text": "Roquin", "start": 57, "end": 63}], "disease": [{"text": "inflammation", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Mutating cysteine 106, 53, or 46 had no impact on the translocation of DJ-1 to mitochondria.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 71, "end": 75}], "disease": [{"text": "translocation", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In slow infections caused by scrapie and other unconventional agents, and in Alzheimer' s disease (AD), the formation of neuritic plaques and the increase in astrocytes and astrocyte-specific protein, glial fibrillary acidic protein (GFAP), are pathological changes common to both conditions.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 234, "end": 238}], "disease": [{"text": "infections", "start": 8, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Recently, NAA10 germline variants were found in patients with the X-linked lethal Ogden syndrome, and in other familial or de novo cases with variable degrees of developmental delay, intellectual disability (ID) and cardiac anomalies.", "output": {"entities": {"gene": [{"text": "NAA10", "start": 10, "end": 15}], "disease": [{"text": "Ogden syndrome", "start": 82, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NAA10", "start": 10, "end": 15}, "tail": {"text": "Ogden syndrome", "start": 82, "end": 96}}]}}, "schema": []}
{"input": "U87-LXSN glioma cells expressing wild-type p53 were relatively resistant to gamma-radiation.", "output": {"entities": {"gene": [{"text": "U87", "start": 0, "end": 3}], "disease": [{"text": "glioma", "start": 9, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Subsequent real-time PCR has shown that mRNA for muscleblind protein 1 (MBNL1) and protocadherin 17 (PCDH17) are increased in BA 46 from subjects with schizophrenia of short, but not long, duration.", "output": {"entities": {"gene": [{"text": "MBNL1", "start": 72, "end": 77}], "disease": [{"text": "schizophrenia", "start": 151, "end": 164}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MBNL1", "start": 72, "end": 77}, "tail": {"text": "schizophrenia", "start": 151, "end": 164}}]}}, "schema": []}
{"input": "We found abundant GATA-4 expression in both types of liver tumors in children, whereas it was absent in adult hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "GATA", "start": 18, "end": 22}], "disease": [{"text": "adult hepatocellular carcinoma", "start": 104, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2).", "output": {"entities": {"gene": [{"text": "EFCAB11", "start": 163, "end": 170}], "disease": [{"text": "schizophrenia", "start": 104, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EFCAB11", "start": 163, "end": 170}, "tail": {"text": "schizophrenia", "start": 104, "end": 117}}]}}, "schema": []}
{"input": "We found that activation of Epac2, a PKA-independent cAMP target and Rap guanine-nucleotide exchange factor (GEF), in cultured rat cortical neurons induced spine shrinkage, increased spine motility, removed synaptic GluR2/3-containing AMPA receptors and depressed excitatory transmission, whereas its inhibition promoted spine enlargement and stabilization.", "output": {"entities": {"gene": [{"text": "Epac2", "start": 28, "end": 33}], "disease": [{"text": "enlargement", "start": 327, "end": 338}]}, "relations": {}}, "schema": []}
{"input": "However, PU. 1 translocation into the nucleus was significantly higher in CF monocytes than in controls, suggesting a role for this transcription factor in the control of TREM-1 expression.", "output": {"entities": {"gene": [{"text": "PU. 1", "start": 9, "end": 14}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Spectral karyotyping (SKY) and fluorescence in situ hybridization analysis clearly demonstrated the presence of a balanced translocation between chromosomes 8 and 14 [t (8; 14) (q24; q32)] in the complex aberrations involving chromosome 3.", "output": {"entities": {"gene": [{"text": "SKY", "start": 22, "end": 25}], "disease": [{"text": "translocation", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Recently, the chromosomal translocation 3; 21, leading to the fusion gene AML1/MDS1/EVI1 (AME), was observed in an ET patient.", "output": {"entities": {"gene": [{"text": "AML1", "start": 74, "end": 78}], "disease": [{"text": "chromosomal translocation", "start": 14, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "It is possible that hypoxia itself led to the upregulation of VEGF in tubular epithelia and vascular smooth muscle cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 62, "end": 66}], "disease": [{"text": "hypoxia", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, mice with germline knockout of Lgr6 are predisposed to SCC development, through a mechanism that includes compensatory upregulation of Lgr5.", "output": {"entities": {"gene": [{"text": "Lgr6", "start": 45, "end": 49}], "disease": [{"text": "SCC", "start": 69, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Lgr6", "start": 45, "end": 49}, "tail": {"text": "SCC", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "All regions of hyperplasia showed moderate or strong CYP1B1 immunoreactivity.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 53, "end": 59}], "disease": [{"text": "hyperplasia", "start": 15, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, in PENK KO mice, we did not detect anxiety and depression-related behavioral changes after the CMS procedure, and even measured a decreased hormonal stress response.", "output": {"entities": {"gene": [{"text": "PENK", "start": 17, "end": 21}], "disease": [{"text": "depression", "start": 61, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PENK", "start": 17, "end": 21}, "tail": {"text": "depression", "start": 61, "end": 71}}]}}, "schema": []}
{"input": "Overexpression of miR-539 inhibited HCC cell viability and colony formation in vitro and impaired tumorigenesis of HCC cells in vivo.", "output": {"entities": {"gene": [{"text": "miR-539", "start": 18, "end": 25}], "disease": [{"text": "HCC", "start": 36, "end": 39}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-539", "start": 18, "end": 25}, "tail": {"text": "HCC", "start": 36, "end": 39}}]}}, "schema": []}
{"input": "It was then revised to monophasic synovial sarcoma due to discovery of the characteristic chromosomal translocation (X; 18) (p11. 2; q11. 2).", "output": {"entities": {"gene": [{"text": "p11", "start": 125, "end": 128}], "disease": [{"text": "monophasic synovial sarcoma", "start": 23, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Detection of specific chromosomal aberrations in urine using BCA-1 (oligo-CGH-array) enhances diagnostic sensitivity and predicts the aggressiveness of non-muscle-invasive bladder transitional cell carcinoma.", "output": {"entities": {"gene": [{"text": "BCA-1", "start": 61, "end": 66}], "disease": [{"text": "chromosomal aberrations", "start": 22, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The association between the AGRP Ala67Thr or the NPY Leu7Pro polymorphisms and indicators of body fatness (baseline leptin levels, body mass index (BMI) values and prevalence of overweight) are investigated in 582 participants of two large cohorts in The Netherlands (total 18 500 adult men and women), aged 20-40 years whose weight remained relatively constant or whose weight increased substantially (range 5. 5-47 kg) during a mean follow-up of 7 years.", "output": {"entities": {"gene": [{"text": "NPY", "start": 49, "end": 52}], "disease": [{"text": "body mass index", "start": 131, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "By two-dimensional gel electrophoresis (2-DE) analyses and mass spectroscopic identification, 10 protein spots were found significantly changed in pancreatic carcinoma and 5 proteins including cyclin I, Rab GDP dissociation inhibitor beta (GDI2), alpha-1 antitrypsin precursor, Haptoglobin precursor, and Serotransferrin precursor were successfully identified.", "output": {"entities": {"gene": [{"text": "GDI2", "start": 240, "end": 244}], "disease": [{"text": "pancreatic carcinoma", "start": 147, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis demonstrated widespread up-regulation of the hypoxic response pathway as a mechanism of enhanced VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 126, "end": 130}], "disease": [{"text": "hypoxic", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Mutations in LMAN1 (also called ERGIC-53) result in combined deficiency of factor V and factor VIII (F5F8D), an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins.", "output": {"entities": {"gene": [{"text": "F5F8D", "start": 101, "end": 106}], "disease": [{"text": "combined deficiency of factor V and factor VIII", "start": 52, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "F5F8D", "start": 101, "end": 106}, "tail": {"text": "combined deficiency of factor V and factor VIII", "start": 52, "end": 99}}]}}, "schema": []}
{"input": "Our finding that disruption of PHF21A by translocations in the PSS region is associated with ID adds to the growing list of ID-associated genes that emphasize the critical role of transcriptional regulation and chromatin remodeling in normal brain development and cognitive function.", "output": {"entities": {"gene": [{"text": "PHF21A", "start": 31, "end": 37}], "disease": [{"text": "PSS", "start": 63, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PHF21A", "start": 31, "end": 37}, "tail": {"text": "PSS", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "PTN knockdown was performed using small interfering (si) RNA, and the effects on retinal pigment epithelium (RPE) cells and human umbilical vascular endothelia cells (HUVECs) were observed in vitro under hyperglycemic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "RPE", "start": 109, "end": 112}], "disease": [{"text": "hypoxic", "start": 222, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Inversely, the expression of eNOS protein was markedly reduced in ARF rats as opposed to control rats.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 29, "end": 33}], "disease": [{"text": "ARF", "start": 66, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "eNOS", "start": 29, "end": 33}, "tail": {"text": "ARF", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "No sign of CNTF-induced toxicity was observed; however, depression occurred in three subjects after removal of the last capsule, which may have correlated with the lack of any future therapeutic option.", "output": {"entities": {"gene": [{"text": "CNTF", "start": 11, "end": 15}], "disease": [{"text": "depression", "start": 56, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNTF", "start": 11, "end": 15}, "tail": {"text": "depression", "start": 56, "end": 66}}]}}, "schema": []}
{"input": "In contrast, the missense mutations found in our four TAM-affected families induced constitutive STIM1 clustering, indicating that Ca (2 +) sensing was impaired.", "output": {"entities": {"gene": [{"text": "STIM1", "start": 97, "end": 102}], "disease": [{"text": "TAM", "start": 54, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STIM1", "start": 97, "end": 102}, "tail": {"text": "TAM", "start": 54, "end": 57}}]}}, "schema": []}
{"input": "VEGF and HIF-1 expression was high in glioma cell lines even under normoxia, and increased after exposure to hypoxia or growth factor stimulation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Thus, isolated congenital macrodactyly is caused by somatic activation of the PI3K/AKT cell-signaling pathway and is genetically and biochemically related to other overgrowth syndromes.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 78, "end": 82}], "disease": [{"text": "congenital macrodactyly", "start": 15, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PI3K", "start": 78, "end": 82}, "tail": {"text": "congenital macrodactyly", "start": 15, "end": 38}}]}}, "schema": []}
{"input": "The localization of the DRD5 gene to 4p15. 1-p15. 33 suggests the possibility that cis-position effects could be responsible for the altered D1-type dopamine receptor number observed in HD tissues or that the DRD5 gene could be a candidate for some of the abnormalities associated with the Wolf-Hirschhorn syndrome.", "output": {"entities": {"gene": [{"text": "DRD5 gene", "start": 24, "end": 33}], "disease": [{"text": "abnormalities", "start": 256, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that IL-17F produced by CD4 (+) T cells causes the inflammation in psoriasis partly through induction of IL-6 in keratinocytes.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 26, "end": 32}], "disease": [{"text": "inflammation", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Studies of the newly discovered galanin family peptide,' galanin-like peptide' (GALP), highlight the likely role of galanin peptides and receptors in the physiological coupling of body weight, adiposity and reproductive function.", "output": {"entities": {"gene": [{"text": "GALP", "start": 80, "end": 84}], "disease": [{"text": "body weight", "start": 180, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "By additional screening of an M-D cohort, we identified co-segregation of RELN variants in two families (Thr1904Met, Ile1217Met) and identified two sporadic RELN mutation carriers (Pro1703Arg, Leu411Ile).", "output": {"entities": {"gene": [{"text": "RELN", "start": 74, "end": 78}], "disease": [{"text": "sporadic", "start": 148, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "There were significant intergroup differences in the allelic frequencies of 5-HTTLPR/rs25531 (SA, LA, and LG) (P < 0. 05) and in the combined frequencies of lower-expressing alleles (SA and LG) and higher-expressing alleles (LA) (P < 0. 025) between subjects with PSD and nondepressed stroke.", "output": {"entities": {"gene": [{"text": "PSD", "start": 264, "end": 267}], "disease": [{"text": "stroke", "start": 285, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "Functional loss of expression of breast cancer susceptibility gene 1 (BRCA1) has been implicated in genomic instability and cancer progression.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 70, "end": 75}], "disease": [{"text": "genomic instability", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Notably, these results were phenocopied by partial knockdown of STAT1 in a human prostate cancer cell line (PC3), suggesting that this pathway may play an important role in mediating the effects of IL-11 under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 64, "end": 69}], "disease": [{"text": "hypoxic", "start": 210, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "TRMT11", "start": 33, "end": 39}], "disease": [{"text": "colon cancer", "start": 88, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRMT11", "start": 33, "end": 39}, "tail": {"text": "colon cancer", "start": 88, "end": 100}}]}}, "schema": []}
{"input": "Here we perform single-strand conformation polymorphism (SSCP) analysis of FLN1 throughout its entire coding region in six PH pedigrees, 31 sporadic female PH patients and 24 sporadic male PH patients.", "output": {"entities": {"gene": [{"text": "FLN1", "start": 75, "end": 79}], "disease": [{"text": "sporadic", "start": 140, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "On the basis of direct comparison of the mutations linked to either cold-aggravated pain or pain insensitivity, we propose a model in which the physiological consequence of a mutation, that is, augmented versus absent pain, is critically dependent on the type of NaV1. 9 hyperactivity.", "output": {"entities": {"gene": [{"text": "NaV1. 9", "start": 263, "end": 270}], "disease": [{"text": "cold", "start": 68, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Four MRI records were available, which revealed 2 patients with cochlear nerve aplasia and 1 patient with Chiari 1 malformation.", "output": {"entities": {"gene": [{"text": "MRI", "start": 5, "end": 8}], "disease": [{"text": "aplasia", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Notably, HIC1, IRF7, ASC, RIPK3, RASSF1A, FABP3, PRKCDBP, and PAX3 genes were hypermethylated in most lung cancer cell lines examined.", "output": {"entities": {"gene": [{"text": "FABP3", "start": 42, "end": 47}], "disease": [{"text": "lung cancer", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "These results implicate hypoxic stress as a modulator of SMN2 exon 7 splicing in disease progression and a coordinated regulation by hnRNP A1 and Sam68 as modifiers of hypoxia-induced skipping of SMN exon 7.", "output": {"entities": {"gene": [{"text": "SMN", "start": 57, "end": 60}], "disease": [{"text": "hypoxia", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Among the various tumor types observed in Ctip (+/-) heterozygous mice, large lymphomas are prevalent.", "output": {"entities": {"gene": [{"text": "Ctip", "start": 42, "end": 46}], "disease": [{"text": "lymphomas", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "THe Xba I (-) allele of GLUT1 gene might be taken as a genetic marker of NIDDM with diabetic nephropathy and this genetic susceptibility appears to be associated with the insulin resistance in patients with NIDDM.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 24, "end": 29}], "disease": [{"text": "insulin resistance", "start": 171, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "This is the second cryptic RUNX1 translocation in hematologic malignancies and the first in AML.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 27, "end": 32}], "disease": [{"text": "translocation", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "However, in eutopic endometrium with endometriosis, PAR-2 expression only in secretory phase was higher than its cycle-matched normal controls.", "output": {"entities": {"gene": [{"text": "PAR", "start": 52, "end": 55}], "disease": [{"text": "endometriosis", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Bcl-2-associated translocation also was detected in three cases (cases 1, 2, and 4).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Both rgs2 +/-and rgs2-/-mice exhibited a strong hypertensive phenotype, renovascular abnormalities, persistent constriction of the resistance vasculature, and prolonged response of the vasculature to vasoconstrictors in vivo.", "output": {"entities": {"gene": [{"text": "rgs2", "start": 5, "end": 9}], "disease": [{"text": "renovascular", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "To screen other hypoxia-inducible angiogenic genes for association with SALS, we selected 112 tagging single nucleotide polymorphisms (tgSNPs) that captured the common genetic variation across 16 VEGF-like and eight ANG-like hypoxia-inducible genes.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 196, "end": 200}], "disease": [{"text": "hypoxia", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Frequent aberrant DNA methylation of ABCB1, FOXC1, PPP2R2B and PTEN in ductal carcinoma in situ and early invasive breast cancer.", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 37, "end": 42}], "disease": [{"text": "ductal carcinoma in situ", "start": 71, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.", "output": {"entities": {"gene": [{"text": "protoporphyrinogen oxidase", "start": 43, "end": 69}], "disease": [{"text": "variegate porphyria", "start": 104, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "protoporphyrinogen oxidase", "start": 43, "end": 69}, "tail": {"text": "variegate porphyria", "start": 104, "end": 123}}]}}, "schema": []}
{"input": "The subjects investigated were 22 patients infected only with HCV, 44 cases of schistosomal hepatic fibrosis (SHF) who were either co-infected with HCV (22) or HCV-free (22), and 22 apparently healthy, schistosome-free and HCV-free controls.", "output": {"entities": {"gene": [{"text": "SHF", "start": 110, "end": 113}], "disease": [{"text": "hepatic fibrosis", "start": 92, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In leukemia cells, when endogenous HMGB1 increased starvation-induced autophagy, this reaction was inhibited by the suppression of HMGB1.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 35, "end": 40}], "disease": [{"text": "starvation", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Treatment of surgical bleeding in patients with FXI deficiency is reviewed with emphasis on the combined use of recombinant activated factor VII (rFVIIa; NovoSeven (R), Novo Nordisk, Bagsvaerd, Denmark) and the antifibrinolytic agent, tranexamic acid.", "output": {"entities": {"gene": [{"text": "FXI", "start": 48, "end": 51}], "disease": [{"text": "bleeding", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "We studied expressions of hypoxia-inducible transcription factor-1 alpha (HIF-1 alpha), an activator of the VEGF gene, and VEGF by reverse transcriptase-polymerase chain reaction, Western blotting, and immunostaining.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 108, "end": 112}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "When cells were stimulated with tumor necrosis factor-α (or high glucose), C242T p22 (phox) significantly inhibited tumor necrosis factor-α-induced Nox2 maturation, O2 (.-) production, mitogen-activated protein kinases and nuclear factor κB activation, and inflammation (all P < 0. 05).", "output": {"entities": {"gene": [{"text": "p22", "start": 81, "end": 84}], "disease": [{"text": "inflammation", "start": 257, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "An additional role of MYO7A in the RPE is indicated by the requirement for it in the light-dependent translocation of the ER (endoplasmic reticulum)-associated visual cycle enzyme RPE65 and normal functioning of the visual retinoid cycle.", "output": {"entities": {"gene": [{"text": "RPE", "start": 35, "end": 38}], "disease": [{"text": "translocation", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "FISH in paraffin tissue sections revealed a rearrangement of CCND1 (11q13) in the oncocytoma cells.", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "oncocytoma", "start": 82, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Since Ishikawa cells express the putative ADM-receptor CRLR-RAMP2 the production and secretion of ADM with the consecutive upregulation of Bcl-2 could establish an autocrine/paracrine mechanism rescuing malignant cells from hypoxic cell death.", "output": {"entities": {"gene": [{"text": "ADM", "start": 42, "end": 45}], "disease": [{"text": "hypoxic", "start": 224, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "RAGE protein expression was highly upregulated in primary melanomas compared to benign nevi in the two TMA (p < 0. 001 and p = 0. 005) as well as in sun-exposed melanomas (p = 0. 046).", "output": {"entities": {"gene": [{"text": "RAGE", "start": 0, "end": 4}], "disease": [{"text": "nevi", "start": 87, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We have improved the definition of the phenotype in males with anophthalmia linked to the ANOP1 locus, as microcephaly, ocular colobomas, and severe renal malformations have not been described in families linked to ANOP1.", "output": {"entities": {"gene": [{"text": "ANOP1", "start": 90, "end": 95}], "disease": [{"text": "malformations", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Among them, expression of adrenomedullin (ADM) was an interesting target because it is highly induced by hypoxia.", "output": {"entities": {"gene": [{"text": "ADM", "start": 42, "end": 45}], "disease": [{"text": "hypoxia", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Ataxin-2 also co-localized with FUS in sporadic and FUS-linked familial ALS patient motor neurons, co-precipitated with FUS in ALS spinal cord lysates, and co-localized with FUS in the ER-Golgi compartments in neuronal cell lines.", "output": {"entities": {"gene": [{"text": "FUS", "start": 32, "end": 35}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "To determine whether factor V Leiden is associated with thrombotic events in patients with heparin-induced thrombocytopenia (HIT), we evaluated 165 patients with serologically confirmed HIT for the presence of factor V Leiden and determined the incidence of venous or arterial thrombosis during the period of HIT.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 21, "end": 36}], "disease": [{"text": "arterial thrombosis", "start": 268, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "Glutathione-S-transferase pull-down experiments, co-immunoprecipitations, immunofluorescence microscopy, site-directed mutagenesis, and biosynthetic labeling experiments were performed to characterize the interaction between COMMD1 and ATP7B and the effects of WD causing mutations.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 236, "end": 241}], "disease": [{"text": "WD", "start": 261, "end": 263}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 236, "end": 241}, "tail": {"text": "WD", "start": 261, "end": 263}}]}}, "schema": []}
{"input": "Drug-induced hepatotoxicity test using gamma-glutamylcysteine synthetase knockdown rat.", "output": {"entities": {"gene": [{"text": "gamma-glutamylcysteine synthetase", "start": 39, "end": 72}], "disease": [{"text": "Drug-induced hepatotoxicity", "start": 0, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gamma-glutamylcysteine synthetase", "start": 39, "end": 72}, "tail": {"text": "Drug-induced hepatotoxicity", "start": 0, "end": 27}}]}}, "schema": []}
{"input": "A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410--& gt; Val) leads to enzyme inactivation and familial chylomicronemia.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 54, "end": 72}], "disease": [{"text": "familial chylomicronemia", "start": 126, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 54, "end": 72}, "tail": {"text": "familial chylomicronemia", "start": 126, "end": 150}}]}}, "schema": []}
{"input": "Our data suggest that miR-221 may contribute to the development of the insulin resistance that typically accompanies obesity, by affecting PPAR signalling pathways and by directly downregulating ADIPOR1 and ETS1.", "output": {"entities": {"gene": [{"text": "ETS1", "start": 207, "end": 211}], "disease": [{"text": "insulin resistance", "start": 71, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Several mutations spread across the ADAMTS13 gene have been identified in association with a deficiency of VWF-cleaving proteinase activity in patients with congenital TTP.", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 36, "end": 44}], "disease": [{"text": "congenital TTP", "start": 157, "end": 171}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS13", "start": 36, "end": 44}, "tail": {"text": "congenital TTP", "start": 157, "end": 171}}]}}, "schema": []}
{"input": "p53 mutation, cyclin overexpression (especially in intestinal type), microsatellite instability, down regulation of E-cadherin (especially in diffuse type), and telomerase reactivation are some prominent examples.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 116, "end": 126}], "disease": [{"text": "microsatellite instability", "start": 69, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The ALG1 mannosyltransferase defect described here represents a novel type of CDG, which should be referred to as CDG-Ik.", "output": {"entities": {"gene": [{"text": "ALG1", "start": 4, "end": 8}], "disease": [{"text": "CDG-Ik", "start": 114, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALG1", "start": 4, "end": 8}, "tail": {"text": "CDG-Ik", "start": 114, "end": 120}}]}}, "schema": []}
{"input": "Furthermore, signal pathway studies demonstrated that ConA induces signal transducer and activator of transcription 3 (STAT3) phosphorylation to trigger MIF upregulation, which in turn promotes Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3)-dependent autophagy.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 245, "end": 250}], "disease": [{"text": "adenovirus", "start": 200, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "The VEGF-D-expressing MCF-7 and MDA-MB-231 lines displayed resistance to apoptosis induced by hypoxia, staurosporin and cycloheximide.", "output": {"entities": {"gene": [{"text": "VEGF-D", "start": 4, "end": 10}], "disease": [{"text": "hypoxia", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Multivariate analysis showed that age, depth of invasion, lymphatic invasion, lymph node metastasis, Union Internationale Contre le Cancer staging, and Lauren classification (P <. 05), but not GRP78 and GRP94 expression, were independent prognostic factors for carcinomas (P >. 05).", "output": {"entities": {"gene": [{"text": "GRP78", "start": 193, "end": 198}], "disease": [{"text": "carcinomas", "start": 261, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, homozygous loss-of-function mutations of GLUT9 cause a total defect of uric acid absorption, leading to severe renal hypouricemia complicated by nephrolithiasis and exercise-induced acute renal failure.", "output": {"entities": {"gene": [{"text": "GLUT9", "start": 56, "end": 61}], "disease": [{"text": "renal hypouricemia", "start": 126, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT9", "start": 56, "end": 61}, "tail": {"text": "renal hypouricemia", "start": 126, "end": 144}}]}}, "schema": []}
{"input": "This report describes a long noncoding RNA (lncRNA) that is induced by cigarette smoke extract (CSE) and experiments utilizing lncRNAs to integrate inflammation with the epithelial-mesenchymal transition (EMT) in human bronchial epithelial (HBE) cells.", "output": {"entities": {"gene": [{"text": "CSE", "start": 96, "end": 99}], "disease": [{"text": "inflammation", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Although E-cadherin downregulation is a major event during EMT and tumor progression, E-cadherin reduction is probably not sufficient for full invasiveness.", "output": {"entities": {"gene": [{"text": "EMT", "start": 59, "end": 62}], "disease": [{"text": "tumor progression", "start": 67, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We investigated the effects of human recombinant HGF (hrHGF) on the selective neuronal cell death in the hippocampal CA1 region after transient forebrain ischemia in rats and explored the nature of the intracellular signaling pathway for the protection against this neuronal injury.", "output": {"entities": {"gene": [{"text": "HGF", "start": 49, "end": 52}], "disease": [{"text": "ischemia", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Our study points to the critical role of the WW domain in the function of the PQBP1 protein and provides an insight into the molecular mechanism that underlies the X chromosome-linked mental retardation entities classified globally as Renpenning syndrome.", "output": {"entities": {"gene": [{"text": "PQBP1", "start": 78, "end": 83}], "disease": [{"text": "Renpenning syndrome", "start": 235, "end": 254}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PQBP1", "start": 78, "end": 83}, "tail": {"text": "Renpenning syndrome", "start": 235, "end": 254}}]}}, "schema": []}
{"input": "High epiregulin expression in human U87 glioma cells relies on IRE1α and promotes autocrine growth through EGF receptor.", "output": {"entities": {"gene": [{"text": "U87", "start": 36, "end": 39}], "disease": [{"text": "glioma", "start": 40, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.", "output": {"entities": {"gene": [{"text": "CASK", "start": 13, "end": 17}], "disease": [{"text": "hypoplasia of the brainstem", "start": 87, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Here we present evidence that under hypoxia-mimicking conditions p53 acetylation is reduced to a greater extent at K320 site targeted by P300/CBP-associated factor (PCAF) than at K382 site targeted by p300/CBP.", "output": {"entities": {"gene": [{"text": "PCAF", "start": 165, "end": 169}], "disease": [{"text": "hypoxia", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Low levels of VEGF were detected by ELISA in the culture media of unstimulated cells; this was enhanced up to 7-fold by hypoxic stimulation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 14, "end": 18}], "disease": [{"text": "hypoxic", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Variant ICK affects cell processes that help explain microdysgenesis and polyspike networks observed on EEG in juvenile myoclonic epilepsy.", "output": {"entities": {"gene": [{"text": "ICK", "start": 8, "end": 11}], "disease": [{"text": "juvenile myoclonic epilepsy", "start": 111, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ICK", "start": 8, "end": 11}, "tail": {"text": "juvenile myoclonic epilepsy", "start": 111, "end": 138}}]}}, "schema": []}
{"input": "Serum concentrations of IL-2, IL-4, IL-10, and IL-12 were measured in patients with DCM (WHO criteria), relatives with asymptomatic left ventricular enlargement (LVE), patients with ischaemic heart failure (IHD), and healthy controls.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 36, "end": 41}], "disease": [{"text": "asymptomatic", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The apelin/APJ system may be involved in the development of retinal neovascularization of ROP.", "output": {"entities": {"gene": [{"text": "APJ", "start": 11, "end": 14}], "disease": [{"text": "retinal neovascularization", "start": 60, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that multiple amplification targets, including PMP22, TOP3A, and MAPK7 or genes close to these candidate oncogenes, may be present in 17p11. 2 approximately p12 and thus contribute to osteosarcoma tumorigenesis.", "output": {"entities": {"gene": [{"text": "MAPK7", "start": 86, "end": 91}], "disease": [{"text": "tumorigenesis", "start": 218, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Notably, 5-aza-CdR hypersensitivity is associated with markedly abundant expression of the pluripotency-associated DNA methyltransferase 3B (DNMT3B) compared with somatic tumor cells.", "output": {"entities": {"gene": [{"text": "DNMT3B", "start": 141, "end": 147}], "disease": [{"text": "hypersensitivity", "start": 19, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "The aim of this paper was to study the molecular mechanisms by which bcl-2 increases hypoxia-induced vascular endothelial growth factor (VEGF) expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 137, "end": 141}], "disease": [{"text": "hypoxia", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Consistent with these findings, treatment with anti-MIF immunoglogulin G (IgG) antibodies reduced bacterial loads and improved survival in a mouse model of pneumococcal pneumonia and sepsis.", "output": {"entities": {"gene": [{"text": "MIF", "start": 52, "end": 55}], "disease": [{"text": "pneumococcal pneumonia", "start": 156, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of BCL-2/J (H) translocation in Japanese adults appeared to be significantly lower than that in German adults.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 18, "end": 23}], "disease": [{"text": "translocation", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The 15 exons of FUS/TLS were sequenced in an initial cohort of 42 familial ALS (FALS) and 117 sporadic ALS (SALS) cases.", "output": {"entities": {"gene": [{"text": "TLS", "start": 20, "end": 23}], "disease": [{"text": "sporadic", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "However, the influence of hypoxia in the formation of such a tumoral VEGF/VEGFR loop is not completely understood.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 69, "end": 73}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Genetic factors are implicated, including DNA mismatch repair (MMR) deficiency manifested as tumor microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 63, "end": 66}], "disease": [{"text": "microsatellite instability", "start": 99, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Affinity purification showed N-Ras to be the predominant activated isoform of Ras in two independent neurofibrosarcoma cell lines from NF1 patients (lines ST88-14 and NF90-8).", "output": {"entities": {"gene": [{"text": "N-Ras", "start": 29, "end": 34}], "disease": [{"text": "neurofibrosarcoma", "start": 101, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "N-Ras", "start": 29, "end": 34}, "tail": {"text": "neurofibrosarcoma", "start": 101, "end": 118}}]}}, "schema": []}
{"input": "In MYCN-amplified neuroblastoma cells we did not observe any significant change in the number of MYCN copies after cisplatin treatment, whereas MYCN-non-amplified SK-N-AS cells revealed during cisplatin treatment an increased number of MYCN gene copies caused by 2p gain in the majority of cells by FISH.", "output": {"entities": {"gene": [{"text": "FISH", "start": 299, "end": 303}], "disease": [{"text": "neuroblastoma", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs).", "output": {"entities": {"gene": [{"text": "NOD2", "start": 98, "end": 102}], "disease": [{"text": "CD", "start": 84, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOD2", "start": 98, "end": 102}, "tail": {"text": "CD", "start": 84, "end": 86}}]}}, "schema": []}
{"input": "Functional experiments were then used to link these genes into a regulatory pathway. ResultsWe report the first mutations of the PLAG1 gene in humans, as well as new mutations in HMGA2 and IGF2 in six sporadic and/or familial cases of SRS.", "output": {"entities": {"gene": [{"text": "PLAG1", "start": 129, "end": 134}], "disease": [{"text": "SRS", "start": 235, "end": 238}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLAG1", "start": 129, "end": 134}, "tail": {"text": "SRS", "start": 235, "end": 238}}]}}, "schema": []}
{"input": "Twenty neuroblastoma samples were analyzed with morphologic cytogenetics, and each of them was compared with MYCN amplification status by Southern blot and fluorescent in situ hybridization (FISH) with a genomic probe.", "output": {"entities": {"gene": [{"text": "FISH", "start": 191, "end": 195}], "disease": [{"text": "neuroblastoma", "start": 7, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Patients with brain metastases, showing low Kv10. 1 expression, had a significantly longer overall survival compared to those patients with high Kv10. 1 expression.", "output": {"entities": {"gene": [{"text": "Kv10. 1", "start": 145, "end": 152}], "disease": [{"text": "brain metastases", "start": 14, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "This anti-tumor activity was linked to a significant increase in tumor necrotic area (p < 0. 02) and trends for decreased proliferation, increased apoptosis, decreased HIF-1alpha and lower tumor MVD (p = n. s.).", "output": {"entities": {"gene": [{"text": "MVD", "start": 195, "end": 198}], "disease": [{"text": "necrotic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "They propose that BRCA1 heterozygosity is associated with increased genomic instability, which accelerates the mutation rate of other critical genes, including the second copy of BRCA1.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 18, "end": 23}], "disease": [{"text": "genomic instability", "start": 68, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Chorea-acanthocytosis (ChAc), a lethal disease caused by defective chorein, is characterized by neurodegeneration and erythrocyte acanthocytosis.", "output": {"entities": {"gene": [{"text": "chorein", "start": 67, "end": 74}], "disease": [{"text": "neurodegeneration", "start": 96, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Two diplotype groups, carrying the haplotypes composed of the DDX5 SNP and 2 neighboring POLG2 SNPs were also significantly associated with an increased risk of advanced fibrosis and had comparable or better risk estimates.", "output": {"entities": {"gene": [{"text": "DDX5", "start": 62, "end": 66}], "disease": [{"text": "fibrosis", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the ACE2 T allele confers a high risk for hypertension and reduced antihypertensive response to ACE inhibitors.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 21, "end": 25}], "disease": [{"text": "hypertension", "start": 59, "end": 71}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACE2", "start": 21, "end": 25}, "tail": {"text": "hypertension", "start": 59, "end": 71}}]}}, "schema": []}
{"input": "These findings suggest the possible role of ADM and SEPX1 as biomarkers of schizophrenia.", "output": {"entities": {"gene": [{"text": "ADM", "start": 44, "end": 47}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADM", "start": 44, "end": 47}, "tail": {"text": "schizophrenia", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "We have performed genome-wide and targeted DNA copy number profiling and resequencing in early-onset and familial polyposis/CRC patients, and show that deletions affecting the open reading frame of the tumour suppressor gene FOCAD are recurrent and significantly enriched in CRC patients compared with unaffected controls.", "output": {"entities": {"gene": [{"text": "FOCAD", "start": 225, "end": 230}], "disease": [{"text": "familial polyposis", "start": 105, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Tissue hypoxia is a characteristic feature of malignant tumors and healing wounds, conditions that are associated with angiogenesis and with increased expression of vascular permeability factor (VPF; also called vascular endothelial growth factor, VEGF), a selective endothelial cell mitogen inducing microvascular hyperpermeability in vivo.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 248, "end": 252}], "disease": [{"text": "hypoxia", "start": 7, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Does sperm morphology play a significant role in increased sex chromosomal disomy? A comparison between patients with teratozoospermia and OAT by FISH.", "output": {"entities": {"gene": [{"text": "FISH", "start": 146, "end": 150}], "disease": [{"text": "teratozoospermia", "start": 118, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that suppression of miR-7 expression is important for maintaining the undifferentiated status of gastric epithelial cells, and thus contributes to gastric tumorigenesis.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 42, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 177, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The expressions of MAGE-1, MAGE-3, GAGE1-6, GAGE1-2 and BAGE mRNA in 33 surgically resected HCC samples and 26 of their corresponding non-cancerous samples (11 liver cirrhosis and 15 chronic hepatitis) were studied by a reverse-transcription polymerase chain reaction, and were compared with clinicopathological parameters.", "output": {"entities": {"gene": [{"text": "BAGE", "start": 56, "end": 60}], "disease": [{"text": "chronic hepatitis", "start": 183, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Two groups: the synchronized swimming and non-athlete control,-were examined to study the possible modulation effect of sport on the association between 5-HTT gene polymorphism and aggression.", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 153, "end": 158}], "disease": [{"text": "aggression", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).", "output": {"entities": {"gene": [{"text": "FLVCR2", "start": 13, "end": 19}], "disease": [{"text": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome", "start": 40, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLVCR2", "start": 13, "end": 19}, "tail": {"text": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome", "start": 40, "end": 108}}]}}, "schema": []}
{"input": "In family ANF, however, FAA was not linked to any locus previously associated with aneurysm formation, including fibrillin-1 and FAA1.", "output": {"entities": {"gene": [{"text": "ANF", "start": 10, "end": 13}], "disease": [{"text": "aneurysm", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that the CCK promoter STR is unlikely to have a major genetic effect on the development of mood disorders in the Japanese population.", "output": {"entities": {"gene": [{"text": "STR", "start": 41, "end": 44}], "disease": [{"text": "mood disorders", "start": 110, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "This study aims to investigate the renoprotective effect of recombinant human erythropoietin (rhEPO) treatment could preserve tubular epithelial cell regeneration and ameliorate renal fibrosis by dual inhibition of stress-induced senescence and EMT in unilateral ureteric obstruction (UUO) mouse model.", "output": {"entities": {"gene": [{"text": "EMT", "start": 245, "end": 248}], "disease": [{"text": "ureteric obstruction", "start": 263, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Four genetic variants, the 102T allele of HTR2A, the 825T allele of GNB3, the 23Cys allele of HTR2C, and the 64Arg/Arg genotype of ADRB3, were significantly associated with olanzapine-induced weight gain.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 42, "end": 47}], "disease": [{"text": "weight gain", "start": 192, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "A significant correlation between BAL CCL5, CCL11, and IL-5 levels and eosinophils in patients with pulmonary fibrosis due to SM gas inhalation has been demonstrated, suggesting that these C-C chemokines and IL-5 contribute to the recruitment of eosinophils cells in the lung in these victims.", "output": {"entities": {"gene": [{"text": "CCL5", "start": 38, "end": 42}], "disease": [{"text": "pulmonary fibrosis", "start": 100, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCL5", "start": 38, "end": 42}, "tail": {"text": "pulmonary fibrosis", "start": 100, "end": 118}}]}}, "schema": []}
{"input": "We investigated the association between the HIF-1 alpha polymorphisms and the incidence and progression of transitional cell carcinoma of the bladder, and the relationship between the polymorphisms and the tissue vascular endothelial growth factor (VEGF) level or microvessel density (MVD).", "output": {"entities": {"gene": [{"text": "MVD", "start": 285, "end": 288}], "disease": [{"text": "transitional cell carcinoma of the bladder", "start": 107, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "While atrial and brain natriuretic peptides (ANP, BNP) were immediately considered cardiac hormones and their role was well-characterized and defined in predicting risk in cardiovascular disease, evidence indicating the role of C-type natriuretic peptide (CNP) in cardiovascular regulation was slow to emerge until about 8 years ago.", "output": {"entities": {"gene": [{"text": "CNP", "start": 256, "end": 259}], "disease": [{"text": "cardiovascular disease", "start": 172, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Following IGFBP-4 treatment, tumour showed large necrotic areas, significantly increased numbers of apoptotic cells (36. 67 +/-7. 36 vs 7. 07 +/-1. 91, P < 0. 01 vs control), decreased cells undergoing mitosis (2. 31 +/-0. 32 vs 3. 61 +/-0. 27, P < 0. 01 vs control) and higher expression of IGFBP-4 (P < 0. 05 vs control).", "output": {"entities": {"gene": [{"text": "IGFBP-4", "start": 10, "end": 17}], "disease": [{"text": "necrotic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "To determine the frequency and timing of hypermethylation during multistep gastric carcinogenesis, non-neoplastic gastric mucosa (n = 118), adenomas (n = 61), and carcinomas (n = 64) were analyzed for their p16, human Mut L homologue 1 (hMLH1), death-associated protein (DAP)-kinase, thromobospondin-1 (THBS1), and tissue inhibitor of metalloproteinase 3 (TIMP-3) methylation status using methylation-specific PCR.", "output": {"entities": {"gene": [{"text": "tissue inhibitor of metalloproteinase 3", "start": 315, "end": 354}], "disease": [{"text": "non-neoplastic", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Prenatally pesticide exposed children carrying the PON1 192R-allele had higher abdominal circumference, body fat content, BMI Z-scores, blood pressure, and serum concentrations of leptin and IGF-I at school age than unexposed children.", "output": {"entities": {"gene": [{"text": "PON1", "start": 51, "end": 55}], "disease": [{"text": "blood pressure", "start": 136, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "However, mutational analysis studies did not detect any germ-line CAPN1 DNA sequence abnormalities in 47 unrelated MEN1 patients and the results therefore exclude CAPN1 as the MEN1 gene.", "output": {"entities": {"gene": [{"text": "MEN1 gene", "start": 176, "end": 185}], "disease": [{"text": "abnormalities", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Although STR-3 could be induced in normal pulmonary fibroblasts with growth factors (basic fibroblast growth factor and platelet-derived growth factor) and/or 12-O-tetradecanoylphorbol-13-acetate, STR-3 induction was inhibited by all-trans retinoic acid, a commonly used chemopreventive agent for aerodigestive tract malignancies.", "output": {"entities": {"gene": [{"text": "STR", "start": 9, "end": 12}], "disease": [{"text": "malignancies", "start": 317, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "The translocation, which involves the AML1 gene on chromosome 21 and the ETO gene on chromosome 8, generates an AML1-ETO fusion transcription factor.", "output": {"entities": {"gene": [{"text": "AML1", "start": 38, "end": 42}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "In liver biopsy specimens from patients with active cirrhosis of various etiologies, CB2 receptors were expressed in nonparenchymal cells located within and at the edge of fibrous septa in smooth muscle alpha-actin-positive cells.", "output": {"entities": {"gene": [{"text": "CB2", "start": 85, "end": 88}], "disease": [{"text": "cirrhosis", "start": 52, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB2", "start": 85, "end": 88}, "tail": {"text": "cirrhosis", "start": 52, "end": 61}}]}}, "schema": []}
{"input": "Coaction of stress and serotonin transporter genotype in predicting aggression at the transition to adulthood.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 23, "end": 44}], "disease": [{"text": "aggression", "start": 68, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "PTTG overexpression disrupts mitosis and causes aneuploidy in single live cells and PTTG modulates p53 activity and p53 also mediates DNA damage-induced inhibition of PTTG transcription.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 0, "end": 4}], "disease": [{"text": "aneuploidy", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "However, hypoxia did not further increase the secreted VEGF level of the TTF-1 (+) lung cancer cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 55, "end": 59}], "disease": [{"text": "hypoxia", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "IL-2 has been also implicated in the stimulation of osteoclast activity in bone resorption.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 0, "end": 4}], "disease": [{"text": "bone resorption", "start": 75, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "However, the pathological significance of BCL-2/IgH translocation, which is characteristic in FL, in newly diagnosed cases of this disease is not well understood.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 42, "end": 47}], "disease": [{"text": "translocation", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Similar modifications were seen in the RAD51 promoter, which is also downregulated by hypoxia, whereas exactly opposite changes were seen in the promoter of the hypoxia-inducible gene VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 184, "end": 188}], "disease": [{"text": "hypoxia", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "None of these genes was expressed in 1 case of benign, localized Castleman' s disease (CD), and only viral IL-6 and viral Cyclin-D were transcribed in 2 cases of benign lymphadenopathies with giant germinal center hyperplasia and increased vascularity.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 107, "end": 111}], "disease": [{"text": "hyperplasia", "start": 214, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "None of the patients had serological evidence of infectious hepatitis, and none had increased levels of carcinoembryonic antigen.", "output": {"entities": {"gene": [{"text": "carcinoembryonic antigen", "start": 104, "end": 128}], "disease": [{"text": "infectious hepatitis", "start": 49, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We further show that miR-223 is a negative regulator of the Roquin ubiquitin ligase, Roquin curtails IL-17A synthesis, and the 3' untranslated region of Roquin is a target for miR-223, thus defining a molecular pathway by which IL-10 modulates IL-17-mediated inflammation.", "output": {"entities": {"gene": [{"text": "Roquin", "start": 60, "end": 66}], "disease": [{"text": "inflammation", "start": 259, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "Epidermal growth factor receptor (EGFR) has been shown to play important roles in regulating diverse biological processes, including cell growth, differentiation, apoptosis, adhesion, and migration.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 34, "end": 38}], "disease": [{"text": "adhesion", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "We thus cannot exclude a possible role of NBN in the tumorigenesis of a certain type of astrocytic tumors.", "output": {"entities": {"gene": [{"text": "NBN", "start": 42, "end": 45}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Neuregulin-1 (NRG1) is a potential therapeutic agent for the treatment of doxorubicin (Dox)-induced heart failure.", "output": {"entities": {"gene": [{"text": "Neuregulin-1", "start": 0, "end": 12}], "disease": [{"text": "heart failure", "start": 100, "end": 113}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Neuregulin-1", "start": 0, "end": 12}, "tail": {"text": "heart failure", "start": 100, "end": 113}}]}}, "schema": []}
{"input": "For a restricted subset of individuals diagnosed with schizophrenia, the expression of dysfunctional NGR variants may contribute to increased disease risk.", "output": {"entities": {"gene": [{"text": "NGR", "start": 101, "end": 104}], "disease": [{"text": "schizophrenia", "start": 54, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NGR", "start": 101, "end": 104}, "tail": {"text": "schizophrenia", "start": 54, "end": 67}}]}}, "schema": []}
{"input": "Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.", "output": {"entities": {"gene": [{"text": "FTL", "start": 42, "end": 45}], "disease": [{"text": "Neuroferritinopathy", "start": 0, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FTL", "start": 42, "end": 45}, "tail": {"text": "Neuroferritinopathy", "start": 0, "end": 19}}]}}, "schema": []}
{"input": "HNPCC is caused by germline mismatch repair (MMR) gene mutations and the genetic analysis of HNPCC therefore includes assessment of microsatellite instability (MSI) and immunohistochemical MMR protein expression in the tumor tissue.", "output": {"entities": {"gene": [{"text": "MMR", "start": 45, "end": 48}], "disease": [{"text": "microsatellite instability", "start": 132, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Thus, the aim of the study was to analyze the role of the Lys109Arg LEPR gene polymorphism on inflammatory (leptin and IL-6) and stress (cortisol) markers in obese subjects who followed a hypocaloric diet designed to lose weight.", "output": {"entities": {"gene": [{"text": "LEPR gene", "start": 68, "end": 77}], "disease": [{"text": "weight", "start": 222, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "To investigate the effects of lithium (Li) and prostaglandin A1 (PGA1) on the expression of heat shock factor 1 (HSF-1), heat shock proteins (HSP), and apoptosis protease activating factor-1 (Apaf-1) induced by permanent focal ischemia in rats.", "output": {"entities": {"gene": [{"text": "Apaf-1", "start": 192, "end": 198}], "disease": [{"text": "shock", "start": 97, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Finally, we show that netrin-1 protects macrophages from apoptosis under hypoxic conditions in a HIF-1α-dependent manner.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 22, "end": 30}], "disease": [{"text": "hypoxic", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Individuals with SIK1 mutations had short survival in cases with neonatal epilepsy onset, and an autism plus developmental syndrome after infantile spasms in others.", "output": {"entities": {"gene": [{"text": "SIK1", "start": 17, "end": 21}], "disease": [{"text": "infantile spasms", "start": 138, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SIK1", "start": 17, "end": 21}, "tail": {"text": "infantile spasms", "start": 138, "end": 154}}]}}, "schema": []}
{"input": "To investigate the clinical application of fluorescence in situ hybridization (FISH) for assessing chromosome disorders of embryos in preimplantation diagnosis of carriers with der (15) t (Y; 15) (q12; p11) translocations.", "output": {"entities": {"gene": [{"text": "p11", "start": 202, "end": 205}], "disease": [{"text": "chromosome disorders", "start": 99, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Subsequently, using western blotting and qRT-PCR, the expression of LGR5 was assessed in three glioma cell lines U87, U118 and U251.", "output": {"entities": {"gene": [{"text": "U87", "start": 113, "end": 116}], "disease": [{"text": "glioma", "start": 95, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Our present study provided the first line of direct evidence suggesting that the CHRM5 gene combined with the CHRNA7 gene may be linked to schizophrenia.", "output": {"entities": {"gene": [{"text": "CHRM5", "start": 81, "end": 86}], "disease": [{"text": "schizophrenia", "start": 139, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRM5", "start": 81, "end": 86}, "tail": {"text": "schizophrenia", "start": 139, "end": 152}}]}}, "schema": []}
{"input": "VEGF and hypoxia increased Ets-1 expression in cultured bovine retinal endothelial cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "To clarify the role of CDX2 in colorectal carcinogenesis, we determined its genomic structure, and searched for mutations of CDX2 in 49 sporadic colorectal carcinomas and ten hereditary non-polyposis colorectal cancers (HNPCC) without microsatellite instability.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 23, "end": 27}], "disease": [{"text": "microsatellite instability", "start": 235, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "In this study, the functional variants in genes involved in the hypoxia signaling pathway, hypoxia-inducible factor-1α (HIF1A) 1772C > T, 1790G > A, and vascular endothelial growth factor (VEGFA)-634G > C, were analyzed in search of the associations specific to abdominal aortic aneurysm (AAA) development.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 189, "end": 194}], "disease": [{"text": "hypoxia", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The results provide the first clear experimental demonstration that alterations that markedly reduce SPINK1 expression are associated with classic hereditary pancreatitis.", "output": {"entities": {"gene": [{"text": "SPINK1", "start": 101, "end": 107}], "disease": [{"text": "hereditary pancreatitis", "start": 147, "end": 170}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPINK1", "start": 101, "end": 107}, "tail": {"text": "hereditary pancreatitis", "start": 147, "end": 170}}]}}, "schema": []}
{"input": "We demonstrate that pre-treatment of estrogen receptor negative MDA-MB-231 breast cancer cells containing ectopically expressed HA-tagged sphingosine 1-phosphate receptor-2 (S1P2) with the sphingosine kinase 1/2 inhibitor SKi (2-(p-hydroxyanilino)-4-(p-chlorophenyl) thiazole) or the sphingosine kinase 2 selective inhibitor (R)-FTY720 methyl ether (ROMe) or sphingosine kinase 2 siRNA induced the translocation of HA-tagged S1P2 and Y416 phosphorylated c-Src to the nucleus of these cells.", "output": {"entities": {"gene": [{"text": "sphingosine kinase 1", "start": 189, "end": 209}], "disease": [{"text": "translocation", "start": 398, "end": 411}]}, "relations": {}}, "schema": []}
{"input": "The FTO-rs9939609 minor allele increased risk of obesity by 1. 25-fold/allele (p = 9. 0 × 10 (-19)), overweight by 1. 13-fold/allele (p = 1. 0 × 10 (-11)) and type 2 diabetes by 1. 15-fold/allele (p = 5. 5 × 10 (-8)).", "output": {"entities": {"gene": [{"text": "FTO", "start": 4, "end": 7}], "disease": [{"text": "overweight", "start": 101, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, PROX1 reexpression suppressed the malignant phenotypes of thyroid carcinoma cells, such as proliferation, motility, adhesion, invasion, anchorage-independent growth, and polyploidy.", "output": {"entities": {"gene": [{"text": "PROX1", "start": 13, "end": 18}], "disease": [{"text": "polyploidy", "start": 183, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Of 13 candidate genes, TICAM1, HIST3H3, CA1, CA3, PTPRZ1, and IL27RA are associated with fibrosis.", "output": {"entities": {"gene": [{"text": "IL27RA", "start": 62, "end": 68}], "disease": [{"text": "fibrosis", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The diabetic control rats (N = 6) presented a significant increase in blood glucose, sorbitol dehydrogenase, glycosylated hemoglobin and lipid peroxidation markers such as thiobarbituric acid reactive substances (TBARS) and hydroperoxides, and a significant decrease in plasma insulin and antioxidant enzymes such as glutathione peroxidase (GPx), glutathione-S-transferase (GST) and reduced glutathione (GSH) compared to normal rats (N = 6).", "output": {"entities": {"gene": [{"text": "sorbitol dehydrogenase", "start": 85, "end": 107}], "disease": [{"text": "hemoglobin", "start": 122, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "CTC amount reflects the aggressiveness of tumors, therefore their detection can be used to determine the prognosis and treatment of cancer patients. The aim of this study was to evaluate human chorionic gonadotropin beta subunit (CGB) and gonadoliberin type 1 (GNRH1) expression as markers of tumor cells circulating in peripheral blood of gynecological cancer patients, indicating the metastatic spread of tumor.", "output": {"entities": {"gene": [{"text": "GNRH1", "start": 261, "end": 266}], "disease": [{"text": "aggressiveness", "start": 24, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to investigate the presence of a B and T cell immune response directed against the glycine-rich cell wall protein (GRP) in patients with different autoimmune disorders and with food allergy.", "output": {"entities": {"gene": [{"text": "GRP", "start": 133, "end": 136}], "disease": [{"text": "autoimmune disorders", "start": 165, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p. Glu117Val and p. Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations.", "output": {"entities": {"gene": [{"text": "TWIST1", "start": 240, "end": 246}], "disease": [{"text": "Sweeney-Cox syndrome", "start": 41, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TWIST1", "start": 240, "end": 246}, "tail": {"text": "Sweeney-Cox syndrome", "start": 41, "end": 61}}]}}, "schema": []}
{"input": "EMT plays an essential role in tumor progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 0, "end": 3}], "disease": [{"text": "tumor progression", "start": 31, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "One family contains a pair of DNA-confirmed, monozygotic twins with narcolepsy who are discordant for cataplexy and have the HLA DR14 (Dw9)/DQB1 * 0503 and DR4 (Dw4)/DQB1 * 0302 haplotypes.", "output": {"entities": {"gene": [{"text": "DR4", "start": 156, "end": 159}], "disease": [{"text": "narcolepsy", "start": 68, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.", "output": {"entities": {"gene": [{"text": "UBIAD1", "start": 18, "end": 24}], "disease": [{"text": "Schnyder corneal dystrophy", "start": 59, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBIAD1", "start": 18, "end": 24}, "tail": {"text": "Schnyder corneal dystrophy", "start": 59, "end": 85}}]}}, "schema": []}
{"input": "The focal presence of p53 + cells was seen in a wide range of low and high grade lymphomas, including lymphadenitis and reactive tonsils.", "output": {"entities": {"gene": [{"text": "p53", "start": 22, "end": 25}], "disease": [{"text": "lymphadenitis", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, human metastatic BC cells that failed to activate STAT3 downstream of EGFR did display robust STAT3 activity upon adhesion to FN.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 83, "end": 87}], "disease": [{"text": "adhesion", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Increase in JAK2 (V617F) alleles during follow-up could not be linked to fibrosis or blastic progression but was related to polycythemic transformation in ET.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 12, "end": 16}], "disease": [{"text": "fibrosis", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: Trophoblast HBEGF, TGFA, and EGF were significantly reduced in preeclampsia compared to PTL and SGA, while p110/EGFR accumulated significantly on the surface of the chorionic villi (p < 0. 05).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 121, "end": 125}], "disease": [{"text": "preeclampsia", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Based on these results we conclude that the RCC-associated t (6; 11) (p21; q13) translocation leads to a dramatic transcriptional and translational upregulation of TFEB due to promoter substitution, thereby severely unbalancing the nuclear ratios of the MITF/TFE subfamily members.", "output": {"entities": {"gene": [{"text": "MITF", "start": 254, "end": 258}], "disease": [{"text": "translocation", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "A similar mutational analysis was also performed on nine acute monocytic/monoblastic leukemia cases, which did not identify any BRAF somatic mutations.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 128, "end": 132}], "disease": [{"text": "acute monocytic/monoblastic leukemia", "start": 57, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "These data indicate the critical involvement of Smad1 in mesangial matrix expansion in the early phase of diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 48, "end": 53}], "disease": [{"text": "diabetic nephropathy", "start": 106, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Expression profiling for cancer stem cell-related genes suggested that FoxQ1 may negatively regulate the expression of Dachshund homolog 1 (DACH1), whose expression is lost in invasive breast cancer.", "output": {"entities": {"gene": [{"text": "FoxQ1", "start": 71, "end": 76}], "disease": [{"text": "breast cancer", "start": 185, "end": 198}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FoxQ1", "start": 71, "end": 76}, "tail": {"text": "breast cancer", "start": 185, "end": 198}}]}}, "schema": []}
{"input": "The aim of the study was to understand the association between IL-21 polymorphisms and ischemic stroke, and the effects of these polymorphisms on gene expression.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 63, "end": 68}], "disease": [{"text": "ischemic stroke", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Deafness/dystonia syndrome thus may be caused by decreased levels of Tim23 in the mitochondrial inner membrane in affected tissues.", "output": {"entities": {"gene": [{"text": "Tim23", "start": 69, "end": 74}], "disease": [{"text": "dystonia", "start": 9, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Comparing these data against a common control dataset derived from 1, 500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3.", "output": {"entities": {"gene": [{"text": "ARTS1", "start": 257, "end": 262}], "disease": [{"text": "spondylitis", "start": 244, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to elucidate the expression and mechanism of LRP1 in hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "LRP1", "start": 71, "end": 75}], "disease": [{"text": "hepatocellular carcinoma", "start": 79, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "DLTs were grade 3 elevated liver function tests (LFT), grade 3 fatigue, grade 3 encephalopathy, grade 3 diarrhea, and grade 3 diarrhea with grade 3 stomatitis; all DLTs were reversible.", "output": {"entities": {"gene": [{"text": "LFT", "start": 49, "end": 52}], "disease": [{"text": "stomatitis", "start": 148, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Serum levels of soluble CD30 improve International Prognostic Score in predicting the outcome of advanced Hodgkin' s lymphoma.", "output": {"entities": {"gene": [{"text": "CD30", "start": 24, "end": 28}], "disease": [{"text": "Hodgkin' s lymphoma", "start": 106, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD30", "start": 24, "end": 28}, "tail": {"text": "Hodgkin' s lymphoma", "start": 106, "end": 125}}]}}, "schema": []}
{"input": "The aim was to investigate upstream and downstream components of NIK transduction pathway in normal (NP), benign prostatic hyperplasia (BPH), prostatic intraepithelial neoplasia (PIN) and prostatic carcinoma (PC).", "output": {"entities": {"gene": [{"text": "NIK", "start": 65, "end": 68}], "disease": [{"text": "benign prostatic hyperplasia", "start": 106, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that MALT1 translocations are not restricted to indolent-appearing lymphomas, provide further evidence that API2-MALT1 and IGH-MALT1 translocations exhibit biologic differences, have implications regarding the pathogenesis of some extranodal DLBCL, and emphasize that a t (14; 18) (q32; q21) cannot be assumed to reflect a BCL2 translocation.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 347, "end": 351}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Nevertheless, the association between NTM lymphadenitis and 3953C > T, a polymorphism previously linked to periodontitis, supports our hypothesis that oral exposure to mycobacteria during eruption of teeth plays a role in the etiology of cervical NTM lymphadenitis.", "output": {"entities": {"gene": [{"text": "NTM", "start": 38, "end": 41}], "disease": [{"text": "periodontitis", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "In this study, we analyzed the effects of hypoxia, a common feature of solid tumors and a major drive to tumor angiogenesis, and of PA, a tryptophan catabolite produced under inflammatory conditions and endowed with several biologic properties, on the production of the angiogenic activator VEGF by advanced-stage human NB cell lines.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 291, "end": 295}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "mRNA and protein levels of complex I subunits NDUFV1, NDUFV2 and NADUFS1, were assessed in striatal and lateral cerebellar hemisphere postmortem specimens and analyzed together with our previous data from prefrontal and parieto-occipital cortices specimens of patients with schizophrenia, bipolar disorder, major depression and healthy subjects.", "output": {"entities": {"gene": [{"text": "NDUFV1", "start": 46, "end": 52}], "disease": [{"text": "major depression", "start": 307, "end": 323}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDUFV1", "start": 46, "end": 52}, "tail": {"text": "major depression", "start": 307, "end": 323}}]}}, "schema": []}
{"input": "Novel genes associated with SLE susceptibility included two transcription factors (EHF and MED1), two components of the NF-κB pathway (RASSF2 and RNF114), one gene involved in adhesion and endothelial migration (CNTN6) and two genes involved in antigen presentation (BIN1 and SEC61G).", "output": {"entities": {"gene": [{"text": "EHF", "start": 83, "end": 86}], "disease": [{"text": "adhesion", "start": 176, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Since all those proteins are downstream phosphorylation targets of PKC activity, these findings indicate that the Melia toosendan extract attenuates the EDN1-stimulated pigmentation by preferentially inhibiting PKC activity within melanocytes.", "output": {"entities": {"gene": [{"text": "EDN1", "start": 153, "end": 157}], "disease": [{"text": "pigmentation", "start": 169, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We suggest that the macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus.", "output": {"entities": {"gene": [{"text": "RDH5", "start": 55, "end": 59}], "disease": [{"text": "fundus albipunctatus", "start": 102, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDH5", "start": 55, "end": 59}, "tail": {"text": "fundus albipunctatus", "start": 102, "end": 122}}]}}, "schema": []}
{"input": "The increased expression of c-JUN was dependent on ATF2 and on activation of the MEK-ERK and JNK arms of the MAPK signaling pathways.", "output": {"entities": {"gene": [{"text": "c-JUN", "start": 28, "end": 33}], "disease": [{"text": "arms", "start": 97, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "A 47-bp sequence located 985 to 939 bp 5' to the VEGF transcription initiation site mediated hypoxia-inducible reporter gene expression directed by a simian virus 40 promoter element that was otherwise minimally responsive to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "To further evaluate the role of MSR1 in prostate cancer susceptibility, at Johns Hopkins Hospital, we studied five common variants of MSR1 in 301 patients with non-HPC who underwent prostate cancer treatment and in 250 control subjects who participated in prostate cancer-screening programs and had normal digital rectal examination and PSA levels (< 4 ng/ml).", "output": {"entities": {"gene": [{"text": "PSA", "start": 337, "end": 340}], "disease": [{"text": "prostate cancer susceptibility", "start": 40, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Factors that impair the availability of functional apolipoproteins or the activities of ABCA1 and ABCG1 could, therefore, strongly influence atherogenesis.", "output": {"entities": {"gene": [{"text": "ABCG1", "start": 98, "end": 103}], "disease": [{"text": "atherogenesis", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The results revealed that carriers of the 223Q alleles of LEPR had significantly higher body weight (P = 0. 0009) and BMI (P = 0. 0022) than non-carriers (i. e., 223R homozygotes); furthermore, the 223Q carriers also had a signiWcantly higher risk of obesity in comparison to non-carriers (P = 0. 0222).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 58, "end": 62}], "disease": [{"text": "body weight", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Here, we studied the expression of the ten-eleven translocation (TET) gene family and activation-induced deaminase/apolipoprotein B mRNA-editing enzymes (AID/APOBEC) in the inferior parietal lobule (IPL) (BA39-40) and the cerebellum of psychotic (PSY) patients, depressed (DEP) patients and nonpsychiatric (CTR) subjects obtained from the Stanley Foundation Neuropathology Consortium Medical Research Institute.", "output": {"entities": {"gene": [{"text": "AID", "start": 154, "end": 157}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The complexity of the chromosome aberrations reflect the advanced stage of this chondrosarcoma; we suggest a possible involvement of the EXT1 gene located on chromosome 8.", "output": {"entities": {"gene": [{"text": "EXT1 gene", "start": 137, "end": 146}], "disease": [{"text": "chromosome aberrations", "start": 22, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study is to the determine the profiles of cell cycle genes and a new candidate oncogene of URG4/URGCP which play role in leukemia, establishing the association between the early prognosis of cancer and the quantitation of genetic changes, and bringing a molecular approach to definite diagnosis.", "output": {"entities": {"gene": [{"text": "URGCP", "start": 111, "end": 116}], "disease": [{"text": "leukemia", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "A total of 201 patients with self-healing cutaneous leishmaniasis (SCL) and 92 asymptomatic infected controls (AIC) from Fars province as well as 58 patients with chronic cutaneous leishmaniasis (CCL) and their 688 normal controls (normal Iranian population or NIP) who were collected from the different areas of Iran were included in the study.", "output": {"entities": {"gene": [{"text": "NIP", "start": 261, "end": 264}], "disease": [{"text": "cutaneous leishmaniasis", "start": 42, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "TNF-α (10 ng/ml) attenuated serum starvation-induced apoptosis of hepatocellular carcinoma cells, and autophagy conferred this process.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 0, "end": 5}], "disease": [{"text": "starvation", "start": 34, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The mRNA and protein levels of RECK in colon tumor tissues and their normal counterparts were compared.", "output": {"entities": {"gene": [{"text": "RECK", "start": 31, "end": 35}], "disease": [{"text": "colon tumor", "start": 39, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RECK", "start": 31, "end": 35}, "tail": {"text": "colon tumor", "start": 39, "end": 50}}]}}, "schema": []}
{"input": "Bakuchiol analogs, especially Delta3, 2-hydroxybakuchiol, are monoamine transporter inhibitors involved in regulating dopaminergic and noradrenergic neurotransmission and may have represented potential pharmacotherapies for disorders such as Parkinson' s disease, depression, and cocaine addiction.", "output": {"entities": {"gene": [{"text": "monoamine transporter", "start": 62, "end": 83}], "disease": [{"text": "cocaine addiction", "start": 280, "end": 297}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "monoamine transporter", "start": 62, "end": 83}, "tail": {"text": "cocaine addiction", "start": 280, "end": 297}}]}}, "schema": []}
{"input": "The downregulation of Nrf2 in glioma cells led to much lower accumulation of HIF-1α protein and limited expression of VEGF and other HIF-1α target genes in mimicking hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 118, "end": 122}], "disease": [{"text": "hypoxia", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "miR-23a was also highly expressed in glioma cell lines SHG44, U251, and U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 72, "end": 75}], "disease": [{"text": "glioma", "start": 37, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "In vivo investigations of pancreatic tumors with restored SLIT2 expression demonstrated reduced invasion, metastasis, and vascularization, with opposing effects produced by ROBO1 silencing in tumor cells or sequestration of endogenous SLIT2.", "output": {"entities": {"gene": [{"text": "SLIT2", "start": 58, "end": 63}], "disease": [{"text": "vascularization", "start": 122, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Integrated transcriptomic and functional analyses identified BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 (BNIP3)-a negative regulator of both Rheb and Bcl2 prosurvival family members-as a key downstream target of FoxOs to inhibit mTORC1 function and promote apoptosis in response to energy stress.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 119, "end": 124}], "disease": [{"text": "adenovirus", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In addition, coadministration of JTP-4819 and substance P, arginine-vasopressin or thyrotropin-releasing hormone (at doses at which each drug alone did not prolong the retention time) improved the retention time of rats with scopolamine-induced amnesia.", "output": {"entities": {"gene": [{"text": "thyrotropin-releasing hormone", "start": 83, "end": 112}], "disease": [{"text": "amnesia", "start": 245, "end": 252}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "thyrotropin-releasing hormone", "start": 83, "end": 112}, "tail": {"text": "amnesia", "start": 245, "end": 252}}]}}, "schema": []}
{"input": "In this study, we genotyped three LRRC4 haplotype-tagging SNPs (htSNP) by direct sequencing in case-control studies, which included 183 Han Chinese patients diagnosed with pituitary adenoma and 183 age-, gender-matched, and geographically matched Han Chinese controls.", "output": {"entities": {"gene": [{"text": "LRRC4", "start": 34, "end": 39}], "disease": [{"text": "pituitary adenoma", "start": 172, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "In addition, the inhibition of NF-κB led to a marked decrease in the expression of HIF-1α, which indicated that IL-17A activated HIF-1α via the NF-κB pathway in hypoxia.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 112, "end": 118}], "disease": [{"text": "hypoxia", "start": 161, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.", "output": {"entities": {"gene": [{"text": "BIN1", "start": 28, "end": 32}], "disease": [{"text": "autosomal recessive centronuclear myopathy", "start": 79, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BIN1", "start": 28, "end": 32}, "tail": {"text": "autosomal recessive centronuclear myopathy", "start": 79, "end": 121}}]}}, "schema": []}
{"input": "The objective of the present study was to systematically test the HDAC genes for its association with schizophrenia.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 66, "end": 70}], "disease": [{"text": "schizophrenia", "start": 102, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC", "start": 66, "end": 70}, "tail": {"text": "schizophrenia", "start": 102, "end": 115}}]}}, "schema": []}
{"input": "GADD45A is a mediator of CD437 induced apoptosis in ovarian carcinoma cells.", "output": {"entities": {"gene": [{"text": "GADD45A", "start": 0, "end": 7}], "disease": [{"text": "ovarian carcinoma", "start": 52, "end": 69}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GADD45A", "start": 0, "end": 7}, "tail": {"text": "ovarian carcinoma", "start": 52, "end": 69}}]}}, "schema": []}
{"input": "Within a large population of German adults (n = 1875), we evaluated eight CARD15 polymorphisms for associations with atopic phenotypes.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 74, "end": 80}], "disease": [{"text": "atopic", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "This is the first reported case of a congenital coralliform cataract phenotype associated with the mutation of Gly61Cys (P. G61C) in the CRYGD gene; it demonstrates a possible mechanism of action for the mutant gene.", "output": {"entities": {"gene": [{"text": "CRYGD", "start": 137, "end": 142}], "disease": [{"text": "coralliform cataract", "start": 48, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRYGD", "start": 137, "end": 142}, "tail": {"text": "coralliform cataract", "start": 48, "end": 68}}]}}, "schema": []}
{"input": "We found evidence for association between GABRA1 and COGA alcohol dependence, history of blackouts, age at first drunkenness, and level of response to alcohol.", "output": {"entities": {"gene": [{"text": "GABRA1", "start": 42, "end": 48}], "disease": [{"text": "alcohol dependence", "start": 58, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA1", "start": 42, "end": 48}, "tail": {"text": "alcohol dependence", "start": 58, "end": 76}}]}}, "schema": []}
{"input": "In the Ewing' s sarcoma and fibromatosis samples, two sarcomas where miR-182-5p is significantly downregulated, multiple predicted targets were significantly upregulated, including HMCN1, NKX2-2, SCNN1G, and SOX2.", "output": {"entities": {"gene": [{"text": "miR-182", "start": 69, "end": 76}], "disease": [{"text": "fibromatosis", "start": 28, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Age-related hearing impairment (ARHI), or presbycusis, is the most prevalent sensory impairment in the elderly.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 32, "end": 36}], "disease": [{"text": "presbycusis", "start": 42, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "It is known, however, that hypoxia potently increases ADM expression by activation of the transcription factor complex hypoxia inducible factor 1 (HIF-1).", "output": {"entities": {"gene": [{"text": "ADM", "start": 54, "end": 57}], "disease": [{"text": "hypoxia", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We report a case of late-onset Miyoshi myopathy presenting at 48 years of age, with novel mutations in the dysferlin gene.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 107, "end": 116}], "disease": [{"text": "Miyoshi myopathy", "start": 31, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dysferlin", "start": 107, "end": 116}, "tail": {"text": "Miyoshi myopathy", "start": 31, "end": 47}}]}}, "schema": []}
{"input": "While the RANTES-403 genotype showed no association with nephropathy, the frequency of the-28G allele was significantly higher in the DN2 group (urinary albuminuria-to-creatinine ratio [ACR] > or = 300 mg/g creatinine, serum creatinine < 2. 0 mg/dl) than in the DN0 (ACR < 30 mg/g creatinine) and DN1 (ACR > or = 30 mg/g creatinine and < 300 mg/g creatinine) groups.", "output": {"entities": {"gene": [{"text": "DN1", "start": 297, "end": 300}], "disease": [{"text": "albuminuria", "start": 153, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In hereditary cases the hMLH1 and hMSH2 genes were shown to have a great importance, and in order to examine the somatic inactivation mechanisms of the two MMR genes hMLH1 and hMSH2 we screened 37 Hungarian sporadic colorectal cancer patients for allelic imbalance (AI), microsatellite instability (MSI), hMLH1 promoter hypermethylation and somatic mutations.", "output": {"entities": {"gene": [{"text": "MMR", "start": 156, "end": 159}], "disease": [{"text": "microsatellite instability", "start": 271, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Alteration of working memory but not in anxiety or stress response in p300/CBP associated factor (PCAF) histone acetylase knockout mice bred on a C57BL/6 background.", "output": {"entities": {"gene": [{"text": "PCAF", "start": 98, "end": 102}], "disease": [{"text": "anxiety", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Our results confirmed the significant role of chromosome abnormalities, Y-chromosome microdeletions, and GGN repeats in Chinese male infertility.", "output": {"entities": {"gene": [{"text": "GGN", "start": 105, "end": 108}], "disease": [{"text": "male infertility", "start": 128, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Introduction of shRNA against EVI1 into EVI1 (high) leukemia cells down-regulated Ang1 expression.", "output": {"entities": {"gene": [{"text": "Ang1", "start": 82, "end": 86}], "disease": [{"text": "leukemia", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Total RNAs were extracted from HCC tissues or peripheral blood mononuclear cells from patients with HCC, liver diseases devoid of cancer, non-hepatic tumors, and healthy controls, respectively.", "output": {"entities": {"gene": [{"text": "HCC", "start": 31, "end": 34}], "disease": [{"text": "liver diseases", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "], an unbalanced translocation [46, XY,-4, + der (4) t (4; 8) (p 15. 2; p21. 1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46, XX,-5, + der (5) (: p13-p15. 1:: p15. 1-qter)] which is responsible for the manifestation of the cri-du-chat syndrome.", "output": {"entities": {"gene": [{"text": "p21", "start": 72, "end": 75}], "disease": [{"text": "cri-du-chat syndrome", "start": 311, "end": 331}]}, "relations": {}}, "schema": []}
{"input": "These data comprise the first report to provide the role of Akt/tuberin/mTORC1/2 in the regulation of N-cadherin and vimentin that are involved in the progression of fibrosis in kidney tumor of TSC patients.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 72, "end": 78}], "disease": [{"text": "fibrosis", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "We also observed that genistein inhibits the translocation of telomerase catalytic subunit [human telomerase reverse transcriptase (hTERT)] to the nucleus, which may result in telomere shortening, although the activity of telomerase is unaffected, along with the inhibition of metaphase spread of chromosomes.", "output": {"entities": {"gene": [{"text": "telomerase reverse transcriptase", "start": 98, "end": 130}], "disease": [{"text": "translocation", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The differentiated status of CD44 knock-down BCSCs was evaluated on the basis of changes in CD44 + CD24-phenotype, tumorigenesis in NOD/SCID mice, and gene expression in relation to renewal status, metastasis, and cell cycle in comparison with BCSCs and non-BCSCs.", "output": {"entities": {"gene": [{"text": "CD24", "start": 99, "end": 103}], "disease": [{"text": "tumorigenesis", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The dissociation of AC from an AKAP150-TRPV1 complex in dorsal root ganglia neurons abolishes sensitization of TRPV1 induced by forskolin and prostaglandin E (2).", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 39, "end": 44}], "disease": [{"text": "dissociation", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "At least, SCC antigen, G protein, glutathione S-transferase, manganese superoxide dismutase, annexins, voltage-dependent anion channel, cyclophilin A, stratifin and galectin 7 are candidates for targeted proteins.", "output": {"entities": {"gene": [{"text": "galectin 7", "start": 165, "end": 175}], "disease": [{"text": "SCC", "start": 10, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "galectin 7", "start": 165, "end": 175}, "tail": {"text": "SCC", "start": 10, "end": 13}}]}}, "schema": []}
{"input": "The significance of p53 mutations in the primary lesion for recurrent hepatocellular carcinoma (HCC) was evaluated.", "output": {"entities": {"gene": [{"text": "HCC", "start": 96, "end": 99}], "disease": [{"text": "recurrent hepatocellular carcinoma", "start": 60, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Using site-directed mutagenesis, mutations known or predicted to abrogate catalytic activity (copper translocation) were introduced into ATP7B and the effect of these mutations on the intracellular trafficking of the protein was investigated.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 137, "end": 142}], "disease": [{"text": "translocation", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "In patients with mutations of PRSS1 (N29I, R122H) and SPINK1 (N34S) the parameters such as calcification, dilatation of the main pancreatic duct, diabetes mellitus, hospital treatments, and surgery were recorded.", "output": {"entities": {"gene": [{"text": "SPINK1", "start": 54, "end": 60}], "disease": [{"text": "dilatation", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results demonstrate an unexpected role for ASC in Sonic hedgehog-driven medulloblastoma tumorigenesis, thus identifying ASC as a promising novel target for antitumor therapy.", "output": {"entities": {"gene": [{"text": "ASC", "start": 65, "end": 68}], "disease": [{"text": "tumorigenesis", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "IAPP expression is increased in the context of insulin resistance, the major risk factor for developing T2D.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 0, "end": 4}], "disease": [{"text": "insulin resistance", "start": 47, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Other groups have identified FGF1 as a relevant risk factor in ovarian cancer.", "output": {"entities": {"gene": [{"text": "FGF1", "start": 29, "end": 33}], "disease": [{"text": "ovarian cancer", "start": 63, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF1", "start": 29, "end": 33}, "tail": {"text": "ovarian cancer", "start": 63, "end": 77}}]}}, "schema": []}
{"input": "Electroretinographic (ERG) abnormalities have been reported in multiple sclerosis (MS), as well as the presence of circulating antiretinal antibodies.", "output": {"entities": {"gene": [{"text": "ERG", "start": 22, "end": 25}], "disease": [{"text": "abnormalities", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry of later-stage mouse embryos demonstrated tissue-specific expression in the derivatives of all three germ layers. qRT-PCR expression analysis of osteoblast and fibroblast cell lines available from two probands was suggestive of Hedgehog pathway activation, indicating that the ZSWIM6 mutation associated with AFND may lead to the craniofacial, brain and limb malformations through the disruption of Hedgehog signaling.", "output": {"entities": {"gene": [{"text": "ZSWIM6", "start": 298, "end": 304}], "disease": [{"text": "AFND", "start": 330, "end": 334}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZSWIM6", "start": 298, "end": 304}, "tail": {"text": "AFND", "start": 330, "end": 334}}]}}, "schema": []}
{"input": "Here we determined Delta5 desaturase (FADS1), Delta6 desaturase (FADS2), elongase (HELO1 [ELOVL5]), peroxisomal (PEX19), and Delta9 desaturase (stearoyl-CoA desaturase, SCD) mRNA expression, and relevant fatty acid product: precursor ratios as estimates of enzyme activities, in the postmortem prefrontal cortex (PFC) of patients with SZ (n = 20) and non-psychiatric controls (n = 20).", "output": {"entities": {"gene": [{"text": "FADS2", "start": 65, "end": 70}], "disease": [{"text": "SZ", "start": 335, "end": 337}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FADS2", "start": 65, "end": 70}, "tail": {"text": "SZ", "start": 335, "end": 337}}]}}, "schema": []}
{"input": "The purposes of this study were to measure both the mRNA and protein expression levels of high-temperature requirement serine peptidase 1 (HtrA1) in human esophageal cancer tissues and their adjacent, comparatively normal esophageal tissues.", "output": {"entities": {"gene": [{"text": "HtrA1", "start": 139, "end": 144}], "disease": [{"text": "esophageal", "start": 155, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.", "output": {"entities": {"gene": [{"text": "PROP1", "start": 147, "end": 152}], "disease": [{"text": "pituitary hormone deficiency", "start": 102, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We suggest that the increased risk of venous thromboembolism due to raloxifene treatment may be related to increased tPA levels, but not TAFI levels.", "output": {"entities": {"gene": [{"text": "tPA", "start": 117, "end": 120}], "disease": [{"text": "venous thromboembolism", "start": 38, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tPA", "start": 117, "end": 120}, "tail": {"text": "venous thromboembolism", "start": 38, "end": 60}}]}}, "schema": []}
{"input": "Recessive pRTA with ocular and central nervous system abnormalities is caused by loss-of-function mutations in basolateral membrane Na-HCO3-cotransporter NBCe1/SLC4A4.", "output": {"entities": {"gene": [{"text": "SLC4A4", "start": 160, "end": 166}], "disease": [{"text": "nervous system abnormalities", "start": 39, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The ic-STZ-injected rats did not have elevated blood glucose levels, and pancreatic architecture and insulin immunoreactivity were similar to control, yet their brains were reduced in size and exhibited neurodegeneration associated with cell loss, gliosis, and increased immunoreactivity for p53, active glycogen synthase kinase 3beta, phospho-tau, ubiquitin, and amyloid-beta.", "output": {"entities": {"gene": [{"text": "STZ", "start": 7, "end": 10}], "disease": [{"text": "gliosis", "start": 248, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "To search for a novel serologic PC biomarker, we carried out an integrated proteomic analysis for a total of 185 pooled or individual plasma from healthy donors and patients with five disease groups including chronic pancreatitis (CP), PC, and other cancers (e. g., hepatocellular carcinoma, cholangiocarcinoma, and gastric cancer) and identified complement factor b (CFB) as a candidate serologic biomarker for PC diagnosis.", "output": {"entities": {"gene": [{"text": "CFB", "start": 368, "end": 371}], "disease": [{"text": "cholangiocarcinoma", "start": 292, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we report the effectiveness of the peptide Ac2-26 as an antiallergic tool in a model of rat pleurisy and provide indication for some of the mechanisms involved.", "output": {"entities": {"gene": [{"text": "Ac2", "start": 65, "end": 68}], "disease": [{"text": "pleurisy", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "REC8L1", "start": 246, "end": 252}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "REC8L1", "start": 246, "end": 252}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, NAB1, GLS, STAT1, and STAT4), mutations in three of which (COL5A2, SLC40A1, and MSTN) have also been associated with an autosomal dominant disorder (EDS classical type, hemochromatosis type 4, and muscle hypertrophy).", "output": {"entities": {"gene": [{"text": "STAT4", "start": 227, "end": 232}], "disease": [{"text": "hemochromatosis type 4", "start": 374, "end": 396}]}, "relations": {}}, "schema": []}
{"input": "Human colorectal cancers relative to matched normal mucosa showed increased NR4A2 expression.", "output": {"entities": {"gene": [{"text": "NR4A2", "start": 76, "end": 81}], "disease": [{"text": "colorectal cancers", "start": 6, "end": 24}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR4A2", "start": 76, "end": 81}, "tail": {"text": "colorectal cancers", "start": 6, "end": 24}}]}}, "schema": []}
{"input": "Immunoblotting confirmed HIF-1α, Ets-1, VEGF and MMP-2 are up-regulated in HASMC exposed to hypoxia (p < 0. 05), while transcription for MMP-1, MT-MMP-1, MMP-9, MMP-2 and MMP-7 (p < 0. 05) increased in hypoxic HASMCs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 40, "end": 44}], "disease": [{"text": "hypoxic", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "These data suggest distinct roles of the GluN2A subunit as whole vs. its intracellular domain in modulating anxiety and depression-like symptoms and reveal differential molecular targets for the therapy of mood and anxiety disorders.", "output": {"entities": {"gene": [{"text": "GluN2A", "start": 41, "end": 47}], "disease": [{"text": "depression", "start": 120, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GluN2A", "start": 41, "end": 47}, "tail": {"text": "depression", "start": 120, "end": 130}}]}}, "schema": []}
{"input": "Multivariate Cox regression analysis revealed decreased FAK expression and pelvic lymph node metastasis to be significant independent factors predictive of poor disease outcome (hazard ratio, 0. 36; P = 0. 005; hazard ratio, 2. 38; P = 0. 018, respectively).", "output": {"entities": {"gene": [{"text": "FAK", "start": 56, "end": 59}], "disease": [{"text": "lymph node metastasis", "start": 82, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Ovarian carcinoma cells overexpress Glut1, pAkt, and pmTOR compared with benign ovarian epithelial cells.", "output": {"entities": {"gene": [{"text": "Glut1", "start": 36, "end": 41}], "disease": [{"text": "Ovarian carcinoma", "start": 0, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Glut1", "start": 36, "end": 41}, "tail": {"text": "Ovarian carcinoma", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "Tempol attenuated cardiac hypertrophy in G4H (-/-) mice (heart: tibia, Con 6. 82 ± 0. 35, G4H (-/-) 8. 83 ± 0. 34, Con + T 6. 82 ± 0. 46, G4H (-/-) + T 7. 57 ± 0. 3), without changing GSH: GSSG, glutathione peroxidase 4 or membrane translocation of the p67 (phox).", "output": {"entities": {"gene": [{"text": "glutathione peroxidase 4", "start": 195, "end": 219}], "disease": [{"text": "cardiac hypertrophy", "start": 18, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In this translocation, the AML1 (CBFA2/PEBP2aB) gene is disrupted and fused to the MTG8 (ETO) gene.", "output": {"entities": {"gene": [{"text": "PEBP2aB", "start": 39, "end": 46}], "disease": [{"text": "translocation", "start": 8, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "LGB321 is active on PIM2-dependent multiple myeloma cell lines, where it inhibits proliferation, mTOR-C1 signaling and phosphorylation of BAD.", "output": {"entities": {"gene": [{"text": "BAD", "start": 138, "end": 141}], "disease": [{"text": "multiple myeloma", "start": 35, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We further identified a refined signature of 36 genes as the gene panel, including SOX2, POU3F2, FGFR2, GAP43, NTRK2, NTRK3, and NKX2-2, which are highly enriched in the nervous system.", "output": {"entities": {"gene": [{"text": "POU3F2", "start": 89, "end": 95}], "disease": [{"text": "nervous system", "start": 170, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "In addition, intrathecal GLP-1R agonists GLP-1 (7-36) and exenatide potently alleviated formalin-, peripheral nerve injury-, bone cancer-, and diabetes-induced hypersensitivity states by 60-90%, without affecting acute nociceptive responses.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 25, "end": 30}], "disease": [{"text": "bone cancer", "start": 125, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Postmortem studies identified PKCI/HINT1 as a candidate molecule for schizophrenia and bipolar disorder.", "output": {"entities": {"gene": [{"text": "HINT1", "start": 35, "end": 40}], "disease": [{"text": "bipolar disorder", "start": 87, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HINT1", "start": 35, "end": 40}, "tail": {"text": "bipolar disorder", "start": 87, "end": 103}}]}}, "schema": []}
{"input": "In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.", "output": {"entities": {"gene": [{"text": "IDH2", "start": 118, "end": 122}], "disease": [{"text": "Maffucci syndrome", "start": 78, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH2", "start": 118, "end": 122}, "tail": {"text": "Maffucci syndrome", "start": 78, "end": 95}}]}}, "schema": []}
{"input": "We performed this study to evaluate the role of MCP-1 for the pathogenesis of PH in experimental CDH.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 48, "end": 53}], "disease": [{"text": "CDH", "start": 97, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCP-1", "start": 48, "end": 53}, "tail": {"text": "CDH", "start": 97, "end": 100}}]}}, "schema": []}
{"input": "LEW rats injected with myelin basic protein (MBP) developed experimental autoimmune encephalomyelitis (EAE) and associated anterior uveitis (AU), which was mediated by CD4 (+) T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 168, "end": 171}], "disease": [{"text": "anterior uveitis", "start": 123, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we found TGF-β-mediated down-regulation of miR-584 and increased expression of PHACTR1 to be required for TGF-β-induced cell migration of breast cancer cells.", "output": {"entities": {"gene": [{"text": "PHACTR1", "start": 89, "end": 96}], "disease": [{"text": "breast cancer", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "The K-sam-related gene, N-sam (NCC-IT-cell-derived sam), was isolated by screening of the cDNA libraries of human immature teratoma cells, NCC-IT.", "output": {"entities": {"gene": [{"text": "NCC", "start": 31, "end": 34}], "disease": [{"text": "immature teratoma", "start": 114, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated a possible association between polymorphisms of the GSTM1, NQO1, and NQO2 genes and alcohol withdrawal symptoms such as delirium tremens, hallucination, and seizure.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 83, "end": 88}], "disease": [{"text": "delirium tremens", "start": 151, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The asymptomatic carriers were shown to have a high frequency of pro-inflammatory monocytes and anti-inflammatory IL-10 + CD4 + and IL-10 + CD8 + T-cells, as an immunoregulatory mechanism to counterbalance the monocyte-derived TNF-alpha.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 114, "end": 119}], "disease": [{"text": "asymptomatic", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "We studied the expression level of the miRNA processing enzyme (DICER1, DGCR8, and RNASEN) in esophageal squamous cell carcinoma (ESCC).", "output": {"entities": {"gene": [{"text": "DGCR8", "start": 72, "end": 77}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 94, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "A specialized subset of CD4 T cells, CD4 + CD28-T cells, are suspected to participate in tissue injury in the plaque.", "output": {"entities": {"gene": [{"text": "CD4", "start": 24, "end": 27}], "disease": [{"text": "plaque", "start": 110, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the androgen receptor gene in 46, XY individuals can be associated with the androgen insensitivity syndrome, of which the phenotype can vary from a female phenotype to an undervirilized or infertile male phenotype.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 17, "end": 34}], "disease": [{"text": "androgen insensitivity syndrome", "start": 89, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 17, "end": 34}, "tail": {"text": "androgen insensitivity syndrome", "start": 89, "end": 120}}]}}, "schema": []}
{"input": "EMMPRIN immunoreactivity was detected in all of the cysts and DFs studied.", "output": {"entities": {"gene": [{"text": "EMMPRIN", "start": 0, "end": 7}], "disease": [{"text": "cysts", "start": 52, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The role of mismatch repair (MMR) in small-cell lung cancer (SCLC) is controversial, as the phenotype of a MMR-deficiency, microsatellite instability (MSI), has been reported to range from 0 to 76%.", "output": {"entities": {"gene": [{"text": "MMR", "start": 29, "end": 32}], "disease": [{"text": "microsatellite instability", "start": 123, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Endothelin-1 has been associated with development of hypoxia-related pulmonary hypertension and vascular endothelial growth factor (VEGF) with protection from this complication.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 132, "end": 136}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Likewise, a rapid and sustained elevation of Fn14 mRNA and protein levels in the left ventricle was observed after experimental MI.", "output": {"entities": {"gene": [{"text": "Fn14", "start": 45, "end": 49}], "disease": [{"text": "MI", "start": 128, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Fn14", "start": 45, "end": 49}, "tail": {"text": "MI", "start": 128, "end": 130}}]}}, "schema": []}
{"input": "Polymerase chain reaction (PCR) with specific primers was performed to analyze the presence of MT1-, MT2-, MT3-, and MT4-MMP in synovial tissue and synovial fibroblasts from 10 patients with RA and 4 subjects without arthritis.", "output": {"entities": {"gene": [{"text": "MT2", "start": 101, "end": 104}], "disease": [{"text": "arthritis", "start": 217, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Downstream in the PI-3 kinase signaling pathway, GLP-1 (9-36) inhibited SDF-1-induced phosphorylation of MLC and cofilin and decreased f-actin formation as well as ICAM3 translocation as shown by Western blotting, flow cytometry and immunohistochemistry, respectively.", "output": {"entities": {"gene": [{"text": "MLC", "start": 105, "end": 108}], "disease": [{"text": "translocation", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "We measured the serum EPO levels and the concurrent hemoglobin (Hb) concentrations in 40 patients polytransfused for beta-thalassemia major, in 18 patients with iron deficiency anemia (IDA), and 32 healthy subjects.", "output": {"entities": {"gene": [{"text": "EPO", "start": 22, "end": 25}], "disease": [{"text": "hemoglobin", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "To investigate the relation between the expression of MGMT and hMLH1 and the CpG methylation within their promoters in HCCs with or without hepatitis viral infection, we performed immunohistochemistry and urea/bisulphite sequencing on 46 HCCs, corresponding noncancerous tissues, and 20 normal liver tissues.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 54, "end": 58}], "disease": [{"text": "viral infection", "start": 150, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we comprehensively addressed the relationship between Ucr-correction and UFR-correction of ten urinary biomarkers N-acetyl-& #946;-d-glucosaminidase (NAG), lactate dehydrogenase (LDH), total protein, albumin, kidney injury molecule-1, neutrophil gelatinase-associated lipocalin, clusterin, & #946; (2)-microglobulin, cystatin-c and glutathione S-transferase-& #945; in non-steady state situations such as AKI.", "output": {"entities": {"gene": [{"text": "cystatin-c", "start": 328, "end": 338}], "disease": [{"text": "AKI", "start": 416, "end": 419}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cystatin-c", "start": 328, "end": 338}, "tail": {"text": "AKI", "start": 416, "end": 419}}]}}, "schema": []}
{"input": "The presentations in these children include features of acrocallosal syndrome, such as hypoplasia of the corpus callosum, enlarged ventricles, facial dysmorphism with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe growth retardation.", "output": {"entities": {"gene": [{"text": "KIF7", "start": 326, "end": 330}], "disease": [{"text": "infantile spasms", "start": 360, "end": 376}]}, "relations": {}}, "schema": []}
{"input": "We analyzed CpG island hypermethylation in 15 genes (APC, CDH1, COX2, DAPK, FHIT, GSTP1, HLTF1, hMLH1, MGMT, p14, p16, RASSF1A, RUNX3, THBS1, and TIMP3) and its association with the methylene-tetrahydrofolate reductase (MTHFR) C677T and A1298C and the methionine synthase (MS) A2756G polymorphisms in 82 Korean women with uterine cervical cancer.", "output": {"entities": {"gene": [{"text": "RUNX3", "start": 128, "end": 133}], "disease": [{"text": "uterine cervical cancer", "start": 322, "end": 345}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that the-206G > A polymorphism in the SPINK5 is associated with asthma susceptibility in a Chinese Han population.", "output": {"entities": {"gene": [{"text": "SPINK5", "start": 60, "end": 66}], "disease": [{"text": "asthma susceptibility", "start": 86, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Association between demographic and pathologic variables EGFR TKI response, time to treatment failure (TTF) and overall survival (OS) was examined using logistic regression and proportional hazards regression.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 57, "end": 61}], "disease": [{"text": "regression", "start": 162, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In vivo expression of Toll-like receptor 2, Toll-like receptor 4, CSF2 and LY64 in Chinese chronic periodontitis patients.", "output": {"entities": {"gene": [{"text": "LY64", "start": 75, "end": 79}], "disease": [{"text": "chronic periodontitis", "start": 91, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "PCNA labeling indexes (as% +/-SD) were 34. 8 +/-12. 2, and 28. 4 +/-9. 3 in achalasia and control groups, respectively (P > 0. 05).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 0, "end": 4}], "disease": [{"text": "achalasia", "start": 76, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "These results provide a comprehensive database of genes responsive to hPNPase (old-35) expression levels; along with the identification new potential candidate genes offering fresh insight into cellular pathways regulated by PNPT1 and which may be used in the future for possible therapeutic intervention in mitochondrial-or inflammation-associated disease phenotypes.", "output": {"entities": {"gene": [{"text": "PNPT1", "start": 225, "end": 230}], "disease": [{"text": "inflammation", "start": 325, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5).", "output": {"entities": {"gene": [{"text": "calcitonin", "start": 383, "end": 393}], "disease": [{"text": "mental retardation", "start": 82, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "calcitonin", "start": 383, "end": 393}, "tail": {"text": "mental retardation", "start": 82, "end": 100}}]}}, "schema": []}
{"input": "Human telomerase reverse transcriptase (hTERT), the human telomerase catalytic subunit, and also the key determinant of the enzymatic activity of human telomerase, is regulated both at the transcriptional level and via phosphorylation and translocation.", "output": {"entities": {"gene": [{"text": "telomerase catalytic subunit", "start": 58, "end": 86}], "disease": [{"text": "translocation", "start": 239, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "In those patients who survive the initial phase of poisoning, filgrastim (granulocyte colony-stimulating factor) offers an effective method of treating pancytopenia and preventing overwhelming septicemia.", "output": {"entities": {"gene": [{"text": "filgrastim", "start": 62, "end": 72}], "disease": [{"text": "septicemia", "start": 193, "end": 203}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "filgrastim", "start": 62, "end": 72}, "tail": {"text": "septicemia", "start": 193, "end": 203}}]}}, "schema": []}
{"input": "RhoC regulates the proliferation of gastric cancer cells through interaction with IQGAP1.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 0, "end": 4}], "disease": [{"text": "gastric cancer", "start": 36, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Colitis modified anxiety-and depression-related behaviour in a sex-, genotype-and test-related manner, and knockout experiments indicated that NPY and PYY were involved in some of these behavioural effects of colitis.", "output": {"entities": {"gene": [{"text": "PYY", "start": 151, "end": 154}], "disease": [{"text": "colitis", "start": 209, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "C282Y/H63D mutations of HFE gene were evaluated in 132 patients (34 in peritoneal dialysis, 98 in HD) and correlated with biochemical parameters of iron status (ferritin (FER) concentration and transferrin saturation (TSAT)), red cell parameters (red cell size and hemoglobin content), erythropoietin (EPO) dosage, major cardiovascular events and C-reactive protein as marker of chronic inflammation, in patients without iron therapy and after i. v.", "output": {"entities": {"gene": [{"text": "EPO", "start": 302, "end": 305}], "disease": [{"text": "hemoglobin", "start": 265, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "In summary, we propose an idea that PSAT1 may be implicated in altered serine metabolism and schizophrenia spectrum conditions.", "output": {"entities": {"gene": [{"text": "PSAT1", "start": 36, "end": 41}], "disease": [{"text": "schizophrenia", "start": 93, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSAT1", "start": 36, "end": 41}, "tail": {"text": "schizophrenia", "start": 93, "end": 106}}]}}, "schema": []}
{"input": "Exome sequencing data analysis led to the identification of IFT140 variants in multiple unrelated non-syndromic LCA and RP cases.", "output": {"entities": {"gene": [{"text": "IFT140", "start": 60, "end": 66}], "disease": [{"text": "RP", "start": 120, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT140", "start": 60, "end": 66}, "tail": {"text": "RP", "start": 120, "end": 122}}]}}, "schema": []}
{"input": "Smoking, alcoholism and genetic polymorphisms alter CYP2B6 levels in human brain.", "output": {"entities": {"gene": [{"text": "CYP2B6", "start": 52, "end": 58}], "disease": [{"text": "alcoholism", "start": 9, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2B6", "start": 52, "end": 58}, "tail": {"text": "alcoholism", "start": 9, "end": 19}}]}}, "schema": []}
{"input": "The transcription factor NF-kappaB (NF-kB) is a key regulator of cytokine and chemokine production in melanoma and is responsible for symptoms such as anorexia, fatigue, and weight loss.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 25, "end": 34}], "disease": [{"text": "fatigue", "start": 161, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "A primary role of DQB1 * 0601 in determination of the susceptibility to cardiac sarcoidosis was supported by association analysis using four polymorphic microsatellite markers, in which only the TAP1 microsatellite locus, the nearest marker to the DQB1 gene among the microsatellites tested, displayed a significant positive association with cardiac sarcoidosis.", "output": {"entities": {"gene": [{"text": "TAP1", "start": 195, "end": 199}], "disease": [{"text": "cardiac sarcoidosis", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We have identified a new case of glucocorticoid resistance caused by a novel mutation of the human glucocorticoid receptor (hGR) gene and studied the molecular mechanisms through which the mutant receptor impairs glucocorticoid signal transduction.", "output": {"entities": {"gene": [{"text": "hGR", "start": 124, "end": 127}], "disease": [{"text": "glucocorticoid resistance", "start": 33, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hGR", "start": 124, "end": 127}, "tail": {"text": "glucocorticoid resistance", "start": 33, "end": 58}}]}}, "schema": []}
{"input": "This is the first report of congenital cerulean cataract associated with a mutation in CRYBB2 in a Chinese family.", "output": {"entities": {"gene": [{"text": "CRYBB2", "start": 87, "end": 93}], "disease": [{"text": "cerulean cataract", "start": 39, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRYBB2", "start": 87, "end": 93}, "tail": {"text": "cerulean cataract", "start": 39, "end": 56}}]}}, "schema": []}
{"input": "We compared the expression of the genes encoding SULF1, SULF2 and heparan sulfate proteoglycans in a large panel of cancer samples to their normal tissue counterparts using publicly available gene expression data, including the data obtained from two cohorts of newly-diagnosed multiple myeloma patients, the Oncomine Cancer Microarray database, the Amazonia data base and the ITTACA database.", "output": {"entities": {"gene": [{"text": "SULF2", "start": 56, "end": 61}], "disease": [{"text": "multiple myeloma", "start": 278, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "IKKβ as positive regulator of NF-κB is also destabilized by Keap1, which resulted in inhibiting NF-κB-derived tumor promotion.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 30, "end": 35}], "disease": [{"text": "tumor promotion", "start": 110, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "We have previously demonstrated that bcl-2 overexpression in tumor cells exposed to hypoxia increases the expression of vascular endothelial growth factor (VEGF) gene through the hypoxia-inducible factor-1 (HIF-1).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 156, "end": 160}], "disease": [{"text": "hypoxia", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Pharmaceutical inhibition of HIF-1 activation resulted in increased survival rates of mice suffering from a S. aureus peritonitis.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 29, "end": 34}], "disease": [{"text": "peritonitis", "start": 118, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "DcR2 was significantly more abundant in tumor cells than in non-neoplastic ones and may contribute to partial resistance to TRAIL in some prostate tumor cells.", "output": {"entities": {"gene": [{"text": "DcR2", "start": 0, "end": 4}], "disease": [{"text": "non-neoplastic", "start": 60, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Moreover, transfer of TRAF1 (+) but not TRAF1 (-) memory T cells at the chronic stage of infection reduces viral load.", "output": {"entities": {"gene": [{"text": "TRAF1", "start": 22, "end": 27}], "disease": [{"text": "viral load", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "TRPC6, TRPM6, and TRPP2 have been implicated in hereditary focal segmental glomerulosclerosis (FSGS), hypomagnesemia with secondary hypocalcemia (HSH), and polycystic kidney disease (PKD), respectively.", "output": {"entities": {"gene": [{"text": "TRPC6", "start": 0, "end": 5}], "disease": [{"text": "hypomagnesemia with secondary hypocalcemia", "start": 102, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "This study identified double-stranded RNA-binding protein 76/NF90 (DRBP76/NF90), a specific isoform of the DRBP family, as a VEGF mRNA-binding protein which plays a key role in VEGF mRNA stability and protein synthesis under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 125, "end": 129}], "disease": [{"text": "hypoxia", "start": 225, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "VAMP7 regulates constitutive membrane incorporation of the cold-activated channel TRPM8.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 82, "end": 87}], "disease": [{"text": "cold", "start": 59, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Most SH-HCC morphology appears to result from a typical HCC that retains the ability to respond to the metabolic syndrome and develops features of steatohepatitis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 8, "end": 11}], "disease": [{"text": "metabolic syndrome", "start": 103, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Blood samples were collected at 0, 2, 4, and 6 h. Insulin with glucose infusion led to the maintenance of euglycemia and a significant suppression of reactive oxygen species (ROS) generation, p47 (phox) expression, Toll-like receptor (TLR)-4, TLR-2, TLR-1, CD14, high-mobility group-B1 (HMGB1), p38 mitogen-activated protein (MAP) kinase, c-Jun NH2-terminal kinase (JNK)-1, and platelet/endothelial cell adhesion molecule expression and a fall in serum concentrations of C-reactive protein, HMGB1, and rapid upon activation T cell expressed and secreted.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 471, "end": 489}], "disease": [{"text": "fall", "start": 439, "end": 443}]}, "relations": {}}, "schema": []}
{"input": "In both models, the induction of Notch3 and Hes1 were partially opposed by AGT251, which correlated with ameliorations in body and muscle weight, reduction of muscular atrophy markers, and improved survival.", "output": {"entities": {"gene": [{"text": "Notch3", "start": 33, "end": 39}], "disease": [{"text": "muscular atrophy", "start": 159, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The most common partner gene was BCL2 (19 patients; 27% of IGH translocation-positive patients), followed by BCL6 (16; 23%), BCL1 (11; 16%), c-MYC (7; 10%), and PAX-5 (2; 3%).", "output": {"entities": {"gene": [{"text": "BCL2", "start": 33, "end": 37}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.", "output": {"entities": {"gene": [{"text": "beta-3", "start": 52, "end": 58}], "disease": [{"text": "hearing impairment", "start": 94, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.", "output": {"entities": {"gene": [{"text": "ADAMTS3", "start": 8, "end": 15}], "disease": [{"text": "Hennekam lymphangiectasia-lymphedema syndrome 3", "start": 32, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS3", "start": 8, "end": 15}, "tail": {"text": "Hennekam lymphangiectasia-lymphedema syndrome 3", "start": 32, "end": 79}}]}}, "schema": []}
{"input": "Hereditary glomus tumour (MIM 168, 000) or paraganglioma (PGL) is a slowly progressive disorder causing benign tumour growth predominantly in the head and neck region.", "output": {"entities": {"gene": [{"text": "MIM", "start": 26, "end": 29}], "disease": [{"text": "benign tumour", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Our results suggested that DRD2 * A2/A2 genotype might be associated with a greater smoking intensity in Chinese.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 27, "end": 31}], "disease": [{"text": "smoking", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "A high BAG-1 expression predicts improved patient outcome in ER + breast carcinoma.", "output": {"entities": {"gene": [{"text": "BAG-1", "start": 7, "end": 12}], "disease": [{"text": "breast carcinoma", "start": 66, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAG-1", "start": 7, "end": 12}, "tail": {"text": "breast carcinoma", "start": 66, "end": 82}}]}}, "schema": []}
{"input": "Given that MCI can also result from cerebrovascular disease (CVD), the authors used clinical, MRI, and cognitive measures of AD and CVD to test the hypothesis that CVD increases the likelihood of progression from MCI to dementia within 3 years.", "output": {"entities": {"gene": [{"text": "MRI", "start": 94, "end": 97}], "disease": [{"text": "cerebrovascular disease", "start": 36, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "ELISA revealed significant elevation of CHI3L1 in the CSF of multiple sclerosis (MS) patients as well as mild elevation with aging.", "output": {"entities": {"gene": [{"text": "CHI3L1", "start": 40, "end": 46}], "disease": [{"text": "mild", "start": 105, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The mutations in SLMAP may cause Brugada syndrome via modulating the intracellular trafficking of hNav1. 5 channel.", "output": {"entities": {"gene": [{"text": "SLMAP", "start": 17, "end": 22}], "disease": [{"text": "Brugada syndrome", "start": 33, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLMAP", "start": 17, "end": 22}, "tail": {"text": "Brugada syndrome", "start": 33, "end": 49}}]}}, "schema": []}
{"input": "By comparing genome-wide gene expression data from muscle biopsies of patients with FSHD to those of 11 other neuromuscular disorders, paired-like homeodomain transcription factor 1 (PITX1) was found specifically up-regulated in patients with FSHD.", "output": {"entities": {"gene": [{"text": "transcription factor 1", "start": 159, "end": 181}], "disease": [{"text": "neuromuscular disorders", "start": 110, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Moreover, forced expression of SSBP2 inhibited prostate cancer cell proliferation in the colony formation assay and caused cell cycle arrest.", "output": {"entities": {"gene": [{"text": "SSBP2", "start": 31, "end": 36}], "disease": [{"text": "prostate cancer", "start": 47, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SSBP2", "start": 31, "end": 36}, "tail": {"text": "prostate cancer", "start": 47, "end": 62}}]}}, "schema": []}
{"input": "We genotyped 711 children for 2 FTO SNPs (rs9939973 and rs9939609), analyzed lifestyle factors, and investigated the potential involvement of FTO variants in being overweight comparing with 8842 adults in the KSNP database.", "output": {"entities": {"gene": [{"text": "FTO", "start": 32, "end": 35}], "disease": [{"text": "overweight", "start": 164, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "This suggests that the SLC12A3 gene is involved in mediation of blood pressure levels.", "output": {"entities": {"gene": [{"text": "SLC12A3 gene", "start": 23, "end": 35}], "disease": [{"text": "blood pressure", "start": 64, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "These results highlighted the antagonistic roles of ECM1 and miR-92a in GC development, which may serve as a new target for gastric cancer.", "output": {"entities": {"gene": [{"text": "ECM1", "start": 52, "end": 56}], "disease": [{"text": "gastric cancer", "start": 124, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ECM1", "start": 52, "end": 56}, "tail": {"text": "gastric cancer", "start": 124, "end": 138}}]}}, "schema": []}
{"input": "SIRT1 histone deacetylase expression is associated with microsatellite instability and CpG island methylator phenotype in colorectal cancer.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 0, "end": 5}], "disease": [{"text": "microsatellite instability", "start": 56, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Since staggerer mice, which carry a deletion in the ROR alpha gene, suffer from immune abnormalities, we generated an adenovirus encoding ROR alpha1 to investigate its potential role in control of the inflammatory response.", "output": {"entities": {"gene": [{"text": "ROR", "start": 52, "end": 55}], "disease": [{"text": "adenovirus", "start": 118, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "When stimulated with H. pylori antigens, T cells from both peripheral blood and gastric mucosa of H. pylori-infected GC patients produced high amounts of IL-10, while the IL-10 production from blood T cells of H. pylori-infected asymptomatic subjects was low.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 154, "end": 159}], "disease": [{"text": "asymptomatic", "start": 229, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "AIM, SETTING AND DESIGN: In the present study, we examined the association of the GSTM1 and GSTT1 gene polymorphisms with sporadic prostate cancer patients in north Indian population.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "prostate cancer", "start": 131, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to assess the immunohistochemical expression of RASSF1A in normal endometrium and endometrial carcinoma, and to correlate its expression with K-RAS mutations, presence of microsatellite instability, RASSF1A promoter methylation, and clinicopathological data.", "output": {"entities": {"gene": [{"text": "RASSF1A", "start": 73, "end": 80}], "disease": [{"text": "microsatellite instability", "start": 196, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Adenoviral-mediated overexpression of a mutant, hyperactive form of beta-catenin in CWR22-Rv1 CaP cells led to increased aryl hydrocarbon receptor (AhR, or dioxin receptor) and transmembrane protein 2 RNA transcript expression, as detected by cDNA-microarray analyses.", "output": {"entities": {"gene": [{"text": "transmembrane protein 2", "start": 177, "end": 200}], "disease": [{"text": "hyperactive", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.", "output": {"entities": {"gene": [{"text": "CA II", "start": 183, "end": 188}], "disease": [{"text": "Carbonic anhydrase II deficiency", "start": 0, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CA II", "start": 183, "end": 188}, "tail": {"text": "Carbonic anhydrase II deficiency", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "We report that changes in miR expression patterns during progression of normal tissues to invasive pancreatic adenocarcinoma in the p48-Cre/LSL-Kras (G12D) mouse model mirrors the miR changes observed in human pancreatic cancer tissues.", "output": {"entities": {"gene": [{"text": "p48", "start": 132, "end": 135}], "disease": [{"text": "pancreatic cancer", "start": 210, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "In these mice with conditional neuronal NF-κB ablation, the clinical course of MOG-EAE, parameters of inflammation and axonal densities in the spinal cord white and grey matter as well as numbers of alpha motorneurons are not different to littermate controls.", "output": {"entities": {"gene": [{"text": "MOG", "start": 79, "end": 82}], "disease": [{"text": "inflammation", "start": 102, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Three of five relatives had mild hypercalcemia [s-Ca, 10. 7-11. 2 mg/dl (2. 67-2. 80 mmol/liter)] and detectable serum PTH [24. 5-29. 0 pg/ml (2. 6-3. 1 pmol/liter)].", "output": {"entities": {"gene": [{"text": "PTH", "start": 119, "end": 122}], "disease": [{"text": "mild", "start": 28, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the DYNC1H1 gene encoding for dynein heavy chain cause two closely related human motor neuropathies, dominant spinal muscular atrophy with lower extremity predominance (SMA-LED) and axonal Charcot-Marie-Tooth (CMT) disease, and lead to sensory neuropathy and striatal atrophy in mutant mice.", "output": {"entities": {"gene": [{"text": "DYNC1H1", "start": 17, "end": 24}], "disease": [{"text": "sensory neuropathy", "start": 249, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "We have previously demonstrated that loss of one candidate gene at this locus, cyclin-dependent kinase inhibitor 2B (Cdkn2b), in mice promotes vascular SMC apoptosis and aneurysm progression.", "output": {"entities": {"gene": [{"text": "Cdkn2b", "start": 117, "end": 123}], "disease": [{"text": "aneurysm", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "The variants of the causal genes were selected based on their functions, including: obesity (adrenergic, beta-3-, receptor: ADRB3), alcohol consumption (aldehyde dehydrogenase 2: ALDH2), water-electrolyte metabolism (guanine nucleotide binding protein [G protein], beta polypeptide 3: GNB3), glycometabolism (peroxisome proliferator-activated receptor gamma: PPARG), lipometabolism (cholesteryl ester transfer protein, plasma: CETP), atherosclerosis (5, 10-methylenetetrahydrofolate reductase [NADPH]: MTHFR), and cellular behavior (gap junction protein, alpha 4, 37 kD: GJA4).", "output": {"entities": {"gene": [{"text": "CETP", "start": 427, "end": 431}], "disease": [{"text": "alcohol consumption", "start": 132, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The purpose of our study was to characterize novel ASS1 gene mutations identified in CTLN1 patients.", "output": {"entities": {"gene": [{"text": "ASS1", "start": 51, "end": 55}], "disease": [{"text": "CTLN1", "start": 85, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASS1", "start": 51, "end": 55}, "tail": {"text": "CTLN1", "start": 85, "end": 90}}]}}, "schema": []}
{"input": "Urine albumine/creatinine ratio (ACR), mean blood pressure (MBP) and index of glomerular filtration rate (GFR) based on S-creatinine were determined.", "output": {"entities": {"gene": [{"text": "GFR", "start": 106, "end": 109}], "disease": [{"text": "mean blood pressure", "start": 39, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Despite identifying seven exonic variants with a minor allele frequency (MAF) > 0. 01, none was significantly associated with schizophrenia (minimum P = 0. 054), showing that the strong association we previously reported in this sample is not the result of association to a common functional variant located within the exonic sequence of any of the three major DTNBP1 transcripts.", "output": {"entities": {"gene": [{"text": "MAF", "start": 73, "end": 76}], "disease": [{"text": "schizophrenia", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "An adenovirus encoding the complete Mfn2 open reading frame (Ad-Mfn2) was used to infect UBCC cells, and an adenoviral vector encoding green fluorescent protein (Ad-GFP) was used as a control.", "output": {"entities": {"gene": [{"text": "Mfn2", "start": 36, "end": 40}], "disease": [{"text": "adenovirus", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "To determine whether the COMT gene is associated with personality traits related to genetic risk for either schizophrenia or bipolar disorder, we examined dimensions of personality psychopathology in biological relatives of individuals with the disorders.", "output": {"entities": {"gene": [{"text": "COMT gene", "start": 25, "end": 34}], "disease": [{"text": "personality traits", "start": 54, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We found that Hdac6-deficient mice exhibit hyperactivity, less anxiety, and antidepressant-like behavior in behavioral tests.", "output": {"entities": {"gene": [{"text": "Hdac6", "start": 14, "end": 19}], "disease": [{"text": "hyperactivity", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The morphology was typical of mucosa-associated lymphoid tissue lymphoma, and by immunophenotype, the tumor cells were CD20 + CD5-CD10-CD23-CD43-BCL6-BCL2 + IgM + IgD-lambda +, with moderate nuclear expression of BCL10.", "output": {"entities": {"gene": [{"text": "CD5", "start": 126, "end": 129}], "disease": [{"text": "mucosa-associated lymphoid tissue lymphoma", "start": 30, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We propose that inborn errors in the human ATR gene identified here result in methylmalonyl aciduria.", "output": {"entities": {"gene": [{"text": "ATR gene", "start": 43, "end": 51}], "disease": [{"text": "aciduria", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 0, "end": 4}], "disease": [{"text": "obesity", "start": 68, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MC4R", "start": 0, "end": 4}, "tail": {"text": "obesity", "start": 68, "end": 75}}]}}, "schema": []}
{"input": "On this basis, we predicted that hyperplastic aberrant crypt foci (ACF), a putative precancerous lesion found in the colon, exhibiting a serrated phenotype would also harbor BRAF mutations and that non-serrated ACF would not.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 174, "end": 178}], "disease": [{"text": "aberrant crypt foci", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Western blotting revealed downregulated TRPV1 and PGC1α as well as upregulated UCP2 and activation of GSK3β, GATA4, and CREB in cold-stressed WT mouse hearts, which were obliterated by ETAKO.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 40, "end": 45}], "disease": [{"text": "cold", "start": 128, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Despite these differences, the hsp25 promoter from P388 cells mediates heat shock-induced activation of a reporter gene when transfected into human HeLa cells which is comparable to that of the hsp25 promoter from EAT cells.", "output": {"entities": {"gene": [{"text": "hsp25", "start": 31, "end": 36}], "disease": [{"text": "shock", "start": 76, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Maspin, Pdcd4, and miR-21 expressions were evaluated by a real-time polymerase chain reaction in 20 endometrial cancer and 10 normal endometrium samples.", "output": {"entities": {"gene": [{"text": "Maspin", "start": 0, "end": 6}], "disease": [{"text": "endometrial cancer", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of SEK1 rendered hypoxic cells more sensitive to oxaliplatin in vitro, whereas the opposite effect was observed in MKK7-deficient cells.", "output": {"entities": {"gene": [{"text": "MKK7", "start": 126, "end": 130}], "disease": [{"text": "hypoxic", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of MTDH reduced anchorage-independent and-dependent growth through arresting cell cycle, inhibited migration and invasion in vitro and further suppressed tumorigenesis, tumour growth and metastasis in vivo.", "output": {"entities": {"gene": [{"text": "MTDH", "start": 18, "end": 22}], "disease": [{"text": "tumorigenesis", "start": 169, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "JNK1-/-mice showed less ear thickening and infiltration of eosinophils and mast cells in AD-like lesions than did WT mice when treated with MC903.", "output": {"entities": {"gene": [{"text": "JNK1", "start": 0, "end": 4}], "disease": [{"text": "AD", "start": 89, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JNK1", "start": 0, "end": 4}, "tail": {"text": "AD", "start": 89, "end": 91}}]}}, "schema": []}
{"input": "Class comparison analysis by significance analysis of microarrays on a subset of CLL samples (n = 14) indicated that a number of cell surface receptor and adhesion related genes were under-expressed in the 11q22. 3 deletion group (CD44, CD11a, PTPRC, CD79a, chemokine ligand 17 and chemokine receptor type 6).", "output": {"entities": {"gene": [{"text": "PTPRC", "start": 244, "end": 249}], "disease": [{"text": "adhesion", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "When PKC-mediated MARCKS phosphorylation was determined, it was observed that MARCKS phosphorylation was significantly decreased in the membrane fraction of PFC and hippocampus obtained from total suicide subjects as well as depressed and non-depressed suicide subjects compared with control population.", "output": {"entities": {"gene": [{"text": "MARCKS", "start": 18, "end": 24}], "disease": [{"text": "suicide", "start": 197, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the expression levels of stathmin and EF1α in relation to telomere length, telomere dysfunction-induced foci (TIF), γ-H2AX, and p21WAF1/CIP1 expression were assessed in specimens of hepatitis B virus (HBV)-related multistep hepatocarcinogenesis, including 13 liver cirrhosis specimens, 14 low-grade dysplastic nodules (DN), 17 high-grade DNs, and 14 hepatocellular carcinomas (HCC).", "output": {"entities": {"gene": [{"text": "TIF", "start": 132, "end": 135}], "disease": [{"text": "liver cirrhosis", "start": 281, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "The mRNA and protein level of VEGF-A in MBT-2 cells increased by 70% at 48 hours interval under hypoxia stress condition.", "output": {"entities": {"gene": [{"text": "MBT", "start": 40, "end": 43}], "disease": [{"text": "hypoxia", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Several XLMR occur as severe early onset encephalopathies: Lowe oculocerebrorenal syndrome, ATR-X syndrome (alpha thalassemia/mental retardation X-linked), Allan-Herdon-Dudley syndrome (MCT8 gene).", "output": {"entities": {"gene": [{"text": "MCT8", "start": 186, "end": 190}], "disease": [{"text": "encephalopathies", "start": 41, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "More recently, studies have suggested expanding the spectrum of MYC/BCL2 DHL to include cases that have concurrent MYC and BCL2 cytogenetic abnormalities, but not necessarily translocations.", "output": {"entities": {"gene": [{"text": "MYC", "start": 64, "end": 67}], "disease": [{"text": "cytogenetic abnormalities", "start": 128, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "However, the association of the TNF2 allele with carbamazepine hypersensitivity was not independent of HLA-DR3 and-DQ2, and therefore the possibility that it constitutes a passive component of the TNF2-DR3-DQ2 haplotype cannot be excluded.", "output": {"entities": {"gene": [{"text": "DQ2", "start": 115, "end": 118}], "disease": [{"text": "hypersensitivity", "start": 63, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual.", "output": {"entities": {"gene": [{"text": "KIAA0586", "start": 146, "end": 154}], "disease": [{"text": "JS", "start": 18, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIAA0586", "start": 146, "end": 154}, "tail": {"text": "JS", "start": 18, "end": 20}}]}}, "schema": []}
{"input": "Role of the growth arrest-specific gene 6 (gas6) product in thrombus stabilization.", "output": {"entities": {"gene": [{"text": "gas6", "start": 43, "end": 47}], "disease": [{"text": "thrombus", "start": 60, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gas6", "start": 43, "end": 47}, "tail": {"text": "thrombus", "start": 60, "end": 68}}]}}, "schema": []}
{"input": "The TGFβ-509TT genotype was associated with higher plasma viral load.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 4, "end": 8}], "disease": [{"text": "viral load", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "They specifically lack Phox2b-expressing glutamatergic neurons located in the parafacial region, whereas other sites known or supposed to be involved in the control of breathing are anatomically normal.", "output": {"entities": {"gene": [{"text": "Phox2b", "start": 23, "end": 29}], "disease": [{"text": "breathing", "start": 168, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Both linkage and association analysis identified several ADH1C alleles and a neighboring microsatellite marker that affected risk of alcohol dependence and were also related to binge drinking.", "output": {"entities": {"gene": [{"text": "ADH1C", "start": 57, "end": 62}], "disease": [{"text": "binge drinking", "start": 177, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Hair whitening score (2. 7 ± 1. 3 vs. 3. 3 ± 1. 2, p = 0. 002), hair losing score (1. 2 ± 0. 9 vs. 1. 5 ± 1. 0, p = 0. 038) and xanthelasma rate (24% vs. 45%, p = 0. 013) were also significantly different between NCA and CAD groups.", "output": {"entities": {"gene": [{"text": "NCA", "start": 213, "end": 216}], "disease": [{"text": "xanthelasma", "start": 128, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In the present study the expression of vascular endothelial growth factor (VEGF) was investigated and compared to microvessel density and necrosis of renal cell carcinomas.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 75, "end": 79}], "disease": [{"text": "necrosis", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "DNA was extracted from neoplasms, normal mucosa, and/or white blood cells for analyses of microsatellite instability (MSI), BRAF mutation, MLH1 methylation, and sequencing of MMR genes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 175, "end": 178}], "disease": [{"text": "microsatellite instability", "start": 90, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.", "output": {"entities": {"gene": [{"text": "HTR1B", "start": 135, "end": 140}], "disease": [{"text": "depression", "start": 48, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HTR1B", "start": 135, "end": 140}, "tail": {"text": "depression", "start": 48, "end": 58}}]}}, "schema": []}
{"input": "The t (14; 18) (q32; q21) chromosomal translocation, characteristic of follicular lymphoma, couples the bcl-2 protooncogene on chromosome 18 to the immunoglobulin heavy-chain joining region (JH).", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 104, "end": 109}], "disease": [{"text": "chromosomal translocation", "start": 26, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We created a Markov Decision Model to evaluate, in untreated Caucasian patients age 50 years, weight 70 kg, with G (1) CHC and Metavir F2 liver fibrosis score, for a time horizon of 20 years, the cost-effectiveness of the following five competing strategies: 1) boceprevir response-guided therapy (BOC-RGT); 2) boceprevir IL28B genotype-guided strategy (BOC-IL28B); 3) boceprevir rapid virologic response (RVR)-guided strategy (BOC-RVR); 4) telaprevir response-guided therapy (TVR-RGT); 5) telaprevir IL28B genotype-guided strategy (TVR-IL28B).", "output": {"entities": {"gene": [{"text": "BOC", "start": 298, "end": 301}], "disease": [{"text": "weight", "start": 94, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to explore the in vivo expressions of TLR2, TLR4, CSF2 and LY64 in Chinese chronic periodontitis patients.", "output": {"entities": {"gene": [{"text": "LY64", "start": 85, "end": 89}], "disease": [{"text": "chronic periodontitis", "start": 101, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.", "output": {"entities": {"gene": [{"text": "alpha-chain", "start": 55, "end": 66}], "disease": [{"text": "alpha-thalassemia", "start": 88, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The early-onset of Wilson' s disease is apparently not associated with P-ATPase domain in the ATP7B protein.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 94, "end": 99}], "disease": [{"text": "Wilson' s disease", "start": 19, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 94, "end": 99}, "tail": {"text": "Wilson' s disease", "start": 19, "end": 36}}]}}, "schema": []}
{"input": "The major purposes of this study were to explore the roles of FGF-9 in the benzo (a) pyrene-induced lung cancer invasion in vitro and the metastatic development of lung adenocarcinoma in human.", "output": {"entities": {"gene": [{"text": "FGF-9", "start": 62, "end": 67}], "disease": [{"text": "lung cancer", "start": 100, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF-9", "start": 62, "end": 67}, "tail": {"text": "lung cancer", "start": 100, "end": 111}}]}}, "schema": []}
{"input": "In our study we tested the effect of in vitro lithium treatment on SAT1 gene and protein expression in B lymphoblastoid cell lines (BLCLs) from bipolar disorder (BD) patients who committed suicide (and for which BLCLs were collected prior to their death), BD patients with high and low risk of suicide and a sample of non-psychiatric controls.", "output": {"entities": {"gene": [{"text": "SAT1", "start": 67, "end": 71}], "disease": [{"text": "bipolar disorder", "start": 144, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SAT1", "start": 67, "end": 71}, "tail": {"text": "bipolar disorder", "start": 144, "end": 160}}]}}, "schema": []}
{"input": "They implicate CHOP as a common contributing factor in the development of HCC in a variety of chronic liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 74, "end": 77}], "disease": [{"text": "liver diseases", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Our results show significantly higher (p < 0. 001) expression of CCR9 and CCL25 in serous adenocarcinoma followed by serous papillary cystadenoma, endometrioid adenocarcinoma, mucinous adenocarcinoma, cystadenoma, mucinous boderline adenocarcinoma, clear cell carcinoma, granulosa cell tumor, dysgerminoma, transitional cell carcinoma, Brenner tumor, yolk sac tumor, adenocarcinoma and fibroma cases, compared to non-neoplastic ovarian tissue.", "output": {"entities": {"gene": [{"text": "CCL25", "start": 74, "end": 79}], "disease": [{"text": "clear cell carcinoma", "start": 249, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "This suggests that the 54G variant and CD45 splicing abnormalities might be associated with HIV infection.", "output": {"entities": {"gene": [{"text": "CD45", "start": 39, "end": 43}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Increased & lt; i & gt; JMJD6 & lt;/i & gt; expression is found in several human cancers, including melanoma, suggesting that the up-regulation of Jmjd6 is a critical event in tumor progression.", "output": {"entities": {"gene": [{"text": "Jmjd6", "start": 147, "end": 152}], "disease": [{"text": "melanoma", "start": 100, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Jmjd6", "start": 147, "end": 152}, "tail": {"text": "melanoma", "start": 100, "end": 108}}]}}, "schema": []}
{"input": "In this study, we show that stimulation of α7nAChR on human polymorphonuclear neutrophils (PMNs) and blood mononuclear phagocytes in vitro attenuates C5aR-and FcγR-triggered generation of reactive oxygen species, expression of leukocyte markers involved in cell recruitment and adhesion, and release of TNF-α and other proinflammatory cytokines.", "output": {"entities": {"gene": [{"text": "C5aR", "start": 150, "end": 154}], "disease": [{"text": "adhesion", "start": 278, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "We found: 1, The abundant expression of the C17orf25 gene was evident in all the cell lines and tissue samples tested, showing little hepatoma-selectivity; 2, Its transcription starts at a single site, locating at-60 from the translation initiation codon; 3, A 58 bp fragment containing the transcription start, extending from-112 to-55, represents the minimal promoter; 4, The consensus sequence within this fragment recognized by SP1 contributes predominantly to the activity of the minimal promoter; 5, The bioinformatic analysis suggests that the C17orf25 gene may encode a protein in the family of the glyoxalase.", "output": {"entities": {"gene": [{"text": "SP1", "start": 432, "end": 435}], "disease": [{"text": "hepatoma", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We identified a recurrent GPR101 mutation (p. E308D) in 11 of 248 patients with acromegaly, with the mutation found mostly in tumors.", "output": {"entities": {"gene": [{"text": "GPR101", "start": 26, "end": 32}], "disease": [{"text": "acromegaly", "start": 80, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPR101", "start": 26, "end": 32}, "tail": {"text": "acromegaly", "start": 80, "end": 90}}]}}, "schema": []}
{"input": "Identification of ATF-3, caveolin-1, DLC-1, and NM23-H2 as putative antitumorigenic, progesterone-regulated genes for ovarian cancer cells by gene profiling.", "output": {"entities": {"gene": [{"text": "NM23-H2", "start": 48, "end": 55}], "disease": [{"text": "ovarian cancer", "start": 118, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NM23-H2", "start": 48, "end": 55}, "tail": {"text": "ovarian cancer", "start": 118, "end": 132}}]}}, "schema": []}
{"input": "As purinergic mediators have been implicated in intestinal inflammation, we hypothesized that CD39 might protect against inflammatory bowel disease.", "output": {"entities": {"gene": [{"text": "CD39", "start": 94, "end": 98}], "disease": [{"text": "inflammation", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The encapsulated BHK-VEGF cell grafts significantly reduced the volume of the infarct and the number of apoptotic cells in the penumbral area when compared with the effect of the BHK-control cell capsule.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 21, "end": 25}], "disease": [{"text": "infarct", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to determine if blockade of communication via the CD40-CD40 ligand (CD40L) interaction between placental ischemia-induced CD4 (+) T cells with endogenous normal pregnant (NP) cells would improve pathophysiology that was previously observed in NP recipient rats of RUPP CD4 (+) T cells.", "output": {"entities": {"gene": [{"text": "CD40", "start": 82, "end": 86}], "disease": [{"text": "ischemia", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 59, "end": 65}], "disease": [{"text": "Stickler syndrome", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 59, "end": 65}, "tail": {"text": "Stickler syndrome", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "The results suggest that both VEGF and bFGF are major angiogenesis factors in salivary gland tumors, and hypoxia-induced angiogenesis results from upregulation of VEGF and increased release of bFGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 30, "end": 34}], "disease": [{"text": "hypoxia", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "PCNA-immunopositive cells were barely detectable in the peri-infarct zone at 2 h; however, numerous PCNA-immunopositive cells were present in this zone by 24 h (0. 7 +/-0. 3 and 10. 6 +/-1. 5 immunopositive cells/0. 25 mm2, respectively) as well as in the adjacent cortex and in the contralateral cingulate cortex.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 0, "end": 4}], "disease": [{"text": "infarct", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Calcium, parathyroid hormone, vitamin D metabolites and bone mineral density (BMD, g/cm (2)) at the hip and in the spine (L (1)-L (4)) were examined.", "output": {"entities": {"gene": [{"text": "parathyroid hormone", "start": 9, "end": 28}], "disease": [{"text": "bone mineral density", "start": 56, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Here, results of screening of C20orf54 in three unrelated BVVLS patients are reported.", "output": {"entities": {"gene": [{"text": "C20orf54", "start": 30, "end": 38}], "disease": [{"text": "BVVLS", "start": 58, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C20orf54", "start": 30, "end": 38}, "tail": {"text": "BVVLS", "start": 58, "end": 63}}]}}, "schema": []}
{"input": "It inhibited VEGF-induced activation of AKT and ERK signaling and reduced hypoxia-enhanced HepG2 cell survivability.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 13, "end": 17}], "disease": [{"text": "hypoxia", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Astrocyte elevated gene-1 (AEG-1) expression is increased in diverse human cancers and plays a vital role in tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 27, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Methylation of ALX4 was analyzed in colorectal adenomas and cancers, in the liver metastases of patients with colorectal cancer, and in 61 other neoplasias, including gastric, esophageal, and hepatocellular cancer and cholangiocarcinoma.", "output": {"entities": {"gene": [{"text": "ALX4", "start": 15, "end": 19}], "disease": [{"text": "esophageal", "start": 176, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Atrial natriuretic peptide reverses experimental acute renal failure induced by arginine vasopressin.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 80, "end": 100}], "disease": [{"text": "acute renal failure", "start": 49, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "arginine vasopressin", "start": 80, "end": 100}, "tail": {"text": "acute renal failure", "start": 49, "end": 68}}]}}, "schema": []}
{"input": "These results demonstrate that NAC protects against renal dysfunction, morphological damage and biochemical changes via the anti-apoptotic pathway in the glycerol-induced rhabdomyolysis model in rats.", "output": {"entities": {"gene": [{"text": "NAC", "start": 31, "end": 34}], "disease": [{"text": "rhabdomyolysis", "start": 171, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "For COPD severity, explanatory variables were FEV1, exacerbation history, hypoxia, respiratory symptoms, inhaled steroids, and CRP.", "output": {"entities": {"gene": [{"text": "CRP", "start": 127, "end": 130}], "disease": [{"text": "hypoxia", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor' s DNA binding.", "output": {"entities": {"gene": [{"text": "TWIST2", "start": 44, "end": 50}], "disease": [{"text": "BSS", "start": 74, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TWIST2", "start": 44, "end": 50}, "tail": {"text": "BSS", "start": 74, "end": 77}}]}}, "schema": []}
{"input": "This translocation generated an in-frame chimeric gene consisting of the N-terminal portion of AML1, retaining the Runt domain, fused to the entire length of TRPS1 on the C-terminus.", "output": {"entities": {"gene": [{"text": "AML1", "start": 95, "end": 99}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Since the brain tissue microenvironmental niche is a prerequisite for expression of the stem cell marker CD133 antigen in brain tumors, we investigated the invasion mechanisms specific to CD133 (+) U87 glioblastoma cells in response to lysophosphatidic acid (LPA) and sphingosine 1-phosphate (S1P), two circulating bioactive lysophospholipids and potent inducers of cancer.", "output": {"entities": {"gene": [{"text": "S1P", "start": 293, "end": 296}], "disease": [{"text": "brain tumors", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "It is concluded that upregulated ERalpha in prostatic stroma may have a greater modulating influence on synthesis of certain growth factors than the direct action of androgens and, by enhancing synthesis of FGF-2 and FGF-7, could play a significant role in the development of BPH.", "output": {"entities": {"gene": [{"text": "FGF-7", "start": 217, "end": 222}], "disease": [{"text": "BPH", "start": 276, "end": 279}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF-7", "start": 217, "end": 222}, "tail": {"text": "BPH", "start": 276, "end": 279}}]}}, "schema": []}
{"input": "These results suggest that the RPS4X/YB-1 complex is a significant potential target to counteract cisplatin resistance in breast cancer.", "output": {"entities": {"gene": [{"text": "RPS4X", "start": 31, "end": 36}], "disease": [{"text": "breast cancer", "start": 122, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RPS4X", "start": 31, "end": 36}, "tail": {"text": "breast cancer", "start": 122, "end": 135}}]}}, "schema": []}
{"input": "We found that 10 of the 14 dyslexia candidate genes (ROBO1, KIAA0319, KIAA0319L, S100B, DOCK4, FMR1, DIP2A, GTF2I, DYX1C1 and DCDC2) fit into a theoretical molecular network involved in neuronal migration and neurite outgrowth.", "output": {"entities": {"gene": [{"text": "DIP2A", "start": 101, "end": 106}], "disease": [{"text": "dyslexia", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Apocynin treatment reduced IP levels in SHR to 52%, NOS1 IR to 69%, and renin IR to 62% of untreated SHR, whereas renin mRNA, COX-2 IR, glomerular filtration rate, PRA, and systolic blood pressure remained unchanged.", "output": {"entities": {"gene": [{"text": "NOS1", "start": 52, "end": 56}], "disease": [{"text": "systolic blood pressure", "start": 173, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, using quantitative trait TDT analyses, we found significant and positive relationships between Haplotype 3 transmission and the inattentive symptoms, but not the hyperactive/impulsive symptoms, of ADHD.", "output": {"entities": {"gene": [{"text": "TDT", "start": 38, "end": 41}], "disease": [{"text": "inattentive", "start": 141, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate an upregulation of ADM gene expression in human placenta and leukocytes in clinically relevant hypoxic-ischemic birth complications and suggest ADM gene expression as a promising marker for severe complications due to perinatal asphyxia such as HIE.", "output": {"entities": {"gene": [{"text": "ADM gene", "start": 40, "end": 48}], "disease": [{"text": "hypoxic", "start": 116, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, and rs734312 in WFS1 gene were associated to the male completed suicide.", "output": {"entities": {"gene": [{"text": "HTT gene", "start": 88, "end": 96}], "disease": [{"text": "suicide", "start": 162, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "In rare cases, gene-trap homozygotes survive to postnatal stages and phenocopy both JATD and SRP type III by exhibiting growth retardation, shortening of the long bones, constriction of the ribcage and polydactyly.", "output": {"entities": {"gene": [{"text": "SRP", "start": 93, "end": 96}], "disease": [{"text": "growth retardation", "start": 120, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Through genome-wide linkage analysis combined with whole exome sequencing, we demonstrate that human autosomal recessive primary microcephaly is caused by a truncating mutation in MAP11.", "output": {"entities": {"gene": [{"text": "MAP11", "start": 180, "end": 185}], "disease": [{"text": "autosomal recessive primary microcephaly", "start": 101, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAP11", "start": 180, "end": 185}, "tail": {"text": "autosomal recessive primary microcephaly", "start": 101, "end": 141}}]}}, "schema": []}
{"input": "Nod2-/-, β-actin-hPepT1 transgenic/Nod2-/-, and villin-hPepT1 transgenic/Nod2-/-littermates had similar levels of susceptibility to DSS-induced colitis, indicating that hPepT1 overexpression increased intestinal inflammation in a NOD2-dependent manner.", "output": {"entities": {"gene": [{"text": "β-actin", "start": 9, "end": 16}], "disease": [{"text": "inflammation", "start": 212, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking IFNAR expression on CD11c (+) dendritic cells and LysM (+) macrophages succumbed completely to DENV infection, while mice deficient in the receptor on either CD11c (+) or LysM (+) cells were susceptible to infection but often resolved viremia and recovered fully from infection.", "output": {"entities": {"gene": [{"text": "CD11c", "start": 33, "end": 38}], "disease": [{"text": "viremia", "start": 248, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that somatic SDHD mutations are rare in sporadic NET.", "output": {"entities": {"gene": [{"text": "NET", "start": 73, "end": 76}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The enamelin gene (ENAM), has been mapped to chromosome 4q21, to the same region as AIH2, and was recently shown to be mutated in patients with smooth and thin hypoplastic autosomal dominant AI (ADAI).", "output": {"entities": {"gene": [{"text": "enamelin", "start": 4, "end": 12}], "disease": [{"text": "AIH2", "start": 84, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "enamelin", "start": 4, "end": 12}, "tail": {"text": "AIH2", "start": 84, "end": 88}}]}}, "schema": []}
{"input": "Interleukin-1 receptor antagonist ameliorates neonatal lipopolysaccharide-induced long-lasting hyperalgesia in the adult rats.", "output": {"entities": {"gene": [{"text": "Interleukin-1 receptor antagonist", "start": 0, "end": 33}], "disease": [{"text": "hyperalgesia", "start": 95, "end": 107}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Interleukin-1 receptor antagonist", "start": 0, "end": 33}, "tail": {"text": "hyperalgesia", "start": 95, "end": 107}}]}}, "schema": []}
{"input": "Analogous experiments with the KCNN3 p. Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels.", "output": {"entities": {"gene": [{"text": "KCNN3", "start": 31, "end": 36}], "disease": [{"text": "ZLS", "start": 226, "end": 229}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNN3", "start": 31, "end": 36}, "tail": {"text": "ZLS", "start": 226, "end": 229}}]}}, "schema": []}
{"input": "Significantly more patients with low MVD (less than 60) had carcinoma with hyperplasia than those with carcinoma without hyperplasia (P = 0. 0053).", "output": {"entities": {"gene": [{"text": "MVD", "start": 37, "end": 40}], "disease": [{"text": "hyperplasia", "start": 75, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Alternatively, other as yet unknown imprinted gene (s) adjacent to IMPACT could contribute to the BPAD trait, since multiple imprinted genes may occasionally form clusters.", "output": {"entities": {"gene": [{"text": "IMPACT", "start": 67, "end": 73}], "disease": [{"text": "BPAD", "start": 98, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IMPACT", "start": 67, "end": 73}, "tail": {"text": "BPAD", "start": 98, "end": 102}}]}}, "schema": []}
{"input": "This study investigated the role of Nrf2 in mediating PHB-induced protection against colitis and expression of the antioxidant response element (ARE)-regulated antioxidant genes heme oxygenase-1 (HO-1) and NAD (P) H quinone oxidoreductase-1 (NQO-1).", "output": {"entities": {"gene": [{"text": "quinone oxidoreductase", "start": 216, "end": 238}], "disease": [{"text": "colitis", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, miR-221 is important in tumorigenesis of HCC, possibly by specifically down-regulating p27 (Kip1), a cell-cycle inhibitor.", "output": {"entities": {"gene": [{"text": "p27", "start": 102, "end": 105}], "disease": [{"text": "tumorigenesis", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "In two of the genes--the tyrosine kinase 2 (TYK2) and IFN regulatory factor 5 (IRF5) genes--we identified SNPs that displayed strong signals in joint analysis of linkage and association (unadjusted P & lt; 10 (-7)) with SLE.", "output": {"entities": {"gene": [{"text": "IRF5", "start": 79, "end": 83}], "disease": [{"text": "SLE", "start": 220, "end": 223}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IRF5", "start": 79, "end": 83}, "tail": {"text": "SLE", "start": 220, "end": 223}}]}}, "schema": []}
{"input": "TFR expression of the aneuploid tumors was significantly higher than that of the euploid tumors in all subpopulations.", "output": {"entities": {"gene": [{"text": "TFR", "start": 0, "end": 3}], "disease": [{"text": "aneuploid", "start": 22, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "IL-1β (-31), IL-6 (-174,-572,-597), and IL-12B (3' + 1158) genotypes were analyzed with pyrosequencing and analyzed using a regression model for susceptibility (sterile, microbial keratitis, controls) and severity.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 13, "end": 17}], "disease": [{"text": "sterile", "start": 161, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.", "output": {"entities": {"gene": [{"text": "spermine synthase", "start": 29, "end": 46}], "disease": [{"text": "Snyder-Robinson syndrome", "start": 69, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "spermine synthase", "start": 29, "end": 46}, "tail": {"text": "Snyder-Robinson syndrome", "start": 69, "end": 93}}]}}, "schema": []}
{"input": "These data suggest ASK1 may be involved in the mechanism of seizure-induced neuronal death downstream of a TNFR1 death-signalling complex.", "output": {"entities": {"gene": [{"text": "ASK1", "start": 19, "end": 23}], "disease": [{"text": "seizure", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In women, the observed changes in HSL and LPL gene expression suggest that deposition of lipids into adipose tissue might be favored after weight reduction.", "output": {"entities": {"gene": [{"text": "LPL gene", "start": 42, "end": 50}], "disease": [{"text": "weight reduction", "start": 139, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "TMS1 expression was reduced in four HCC cell lines and correlated with methylation status.", "output": {"entities": {"gene": [{"text": "TMS1", "start": 0, "end": 4}], "disease": [{"text": "HCC", "start": 36, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TMS1", "start": 0, "end": 4}, "tail": {"text": "HCC", "start": 36, "end": 39}}]}}, "schema": []}
{"input": "The data indicate a dual role of Lhx2 during EMT and tumor progression: by inducing the expression of PDGF-B, Lhx2 provokes an autocrine PDGF-B/PDGFRβ loop required for cell migration, invasion and metastatic dissemination and paracrine PDGF-B/PDGFRβ signaling to support blood vessel functionality and, thus, primary tumor growth.", "output": {"entities": {"gene": [{"text": "EMT", "start": 45, "end": 48}], "disease": [{"text": "tumor progression", "start": 53, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Using the phosphatidylinositol 3-kinase (PI 3-kinase) inhibitor LY 294002, we show that this VEGF hypoxia-inducible pathway regulated by HIF-1 alpha is distinct from a PI 3-kinase-dependent pathway, which regulates basal amounts of VEGF, but does not affect inducibility.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 93, "end": 97}], "disease": [{"text": "hypoxia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, constitutive expression of the human epo gene affected the morphologies in transgenic plants such that vegetative growth of transgenic tobacco was retarded, and male sterility was induced in transgenic tobacco and Arabidopsis.", "output": {"entities": {"gene": [{"text": "epo gene", "start": 52, "end": 60}], "disease": [{"text": "male sterility", "start": 176, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "In this review, we will discuss the dual role of TNF in pulmonary edema.", "output": {"entities": {"gene": [{"text": "TNF", "start": 49, "end": 52}], "disease": [{"text": "pulmonary edema", "start": 56, "end": 71}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TNF", "start": 49, "end": 52}, "tail": {"text": "pulmonary edema", "start": 56, "end": 71}}]}}, "schema": []}
{"input": "As to the second aim, the possible association of cathepsin B along with selected molecular markers, cathepsin L, and endogenous cysteine protease inhibitors (stefins A and B and cystatin C) with meningioma malignancy was determined using enzyme-linked immunosorbent assays in tumor homogenates.", "output": {"entities": {"gene": [{"text": "cystatin C", "start": 179, "end": 189}], "disease": [{"text": "meningioma", "start": 196, "end": 206}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cystatin C", "start": 179, "end": 189}, "tail": {"text": "meningioma", "start": 196, "end": 206}}]}}, "schema": []}
{"input": "These data suggest that IL-21 polymorphism is associated with increased susceptibility to ischemic stroke possibly by upregulating gene expression.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 24, "end": 29}], "disease": [{"text": "ischemic stroke", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We first demonstrated mRNA expression of GHR and of its exon 9-truncated isoform (GHR (tr)) in benign prostate hyperplasia (BPH) and prostate adenocarcinoma patient tissues, as well as in LNCaP, PC3 and DU145 human prostate cancer cell lines.", "output": {"entities": {"gene": [{"text": "PC3", "start": 195, "end": 198}], "disease": [{"text": "prostate adenocarcinoma", "start": 133, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Cerebral MRI showed agenesis of the optic nerves, optic tracts, and optic chiasma.", "output": {"entities": {"gene": [{"text": "MRI", "start": 9, "end": 12}], "disease": [{"text": "agenesis", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Our findings propose a new role for AVP in cocaine addiction.", "output": {"entities": {"gene": [{"text": "AVP", "start": 36, "end": 39}], "disease": [{"text": "cocaine addiction", "start": 43, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AVP", "start": 36, "end": 39}, "tail": {"text": "cocaine addiction", "start": 43, "end": 60}}]}}, "schema": []}
{"input": "In this study, a plasmid expressing vascular endothelial growth factor (VEGF) was constructed with an oxygen dependent degradation (ODD) domain and a secretion signal peptide (SP) in order to stabilize the VEGF protein and facilitate the secretion of VEGF protein, specifically under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 72, "end": 76}], "disease": [{"text": "hypoxic", "start": 284, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "Forced suppression of GPX2 expression by siRNA resulted in significant growth inhibition in both rat and human mammary carcinoma cell lines with wild-type p53 cells.", "output": {"entities": {"gene": [{"text": "GPX2", "start": 22, "end": 26}], "disease": [{"text": "human mammary carcinoma", "start": 105, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPX2", "start": 22, "end": 26}, "tail": {"text": "human mammary carcinoma", "start": 105, "end": 128}}]}}, "schema": []}
{"input": "Tumor and normal tissue DNA samples were obtained from 40 patients with early-onset (< 50 y) gastric carcinomas and assayed for APC and CTNNB1 mutations, microsatellite instability, and methylation of the promoters of the hMLH1, TIMP3, THBS1, DAP-K, GSTP1, APC, and MINT2.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 250, "end": 255}], "disease": [{"text": "microsatellite instability", "start": 154, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "At P17, retinal flatmounts were stained with isolectin and quantified with a standard protocol to measure vasoobliteration and pathologic neovascularization.", "output": {"entities": {"gene": [{"text": "P17", "start": 3, "end": 6}], "disease": [{"text": "pathologic neovascularization", "start": 127, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Rubinstein-Taybi syndrome (RTS, MIM 180849) is a multiple malformation syndrome characterized by growth retardation, developmental delay, and dysmorphic features, including down-slanting palpebral fissures, a beaked nose, broad thumbs, and halluces.", "output": {"entities": {"gene": [{"text": "MIM", "start": 32, "end": 35}], "disease": [{"text": "dysmorphic features", "start": 142, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "A 58-year-old white woman with mild progressive gait disturbance of 15 years' duration whose examination revealed mild incoordination was analyzed for mutations in the X25 gene.", "output": {"entities": {"gene": [{"text": "X25", "start": 168, "end": 171}], "disease": [{"text": "incoordination", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Recently we have demonstrated that one family member, Ckidelta, colocalizes with tau containing neurofibrillary tangles (NFTs) and other tau deposits in a number of neurodegenerative diseases.", "output": {"entities": {"gene": [{"text": "Ckidelta", "start": 54, "end": 62}], "disease": [{"text": "neurofibrillary tangles", "start": 96, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91 +) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.", "output": {"entities": {"gene": [{"text": "gp91phox", "start": 160, "end": 168}], "disease": [{"text": "X-linked chronic granulomatous disease", "start": 51, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gp91phox", "start": 160, "end": 168}, "tail": {"text": "X-linked chronic granulomatous disease", "start": 51, "end": 89}}]}}, "schema": []}
{"input": "Primary cultures of highly purified thyrocytes and thyroid-derived fibroblasts (n = 3) and three thyroid anaplastic and one largely papillary carcinoma cell lines were exposed to different potent GM-CSF stimulators, employing interleukin 1 alpha (Il-1 alpha) and tumour necrosis factor-alpha (TNF-alpha).", "output": {"entities": {"gene": [{"text": "interleukin 1 alpha", "start": 226, "end": 245}], "disease": [{"text": "papillary carcinoma", "start": 132, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes.", "output": {"entities": {"gene": [{"text": "MAF", "start": 152, "end": 155}], "disease": [{"text": "morbid obesity", "start": 89, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Our data provide new insights into the mechanisms of tumoral L1CAM induction and how PMFs contribute to malignant transformation of pancreatic duct cells early in PDAC tumorigenesis.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 61, "end": 66}], "disease": [{"text": "tumorigenesis", "start": 168, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "In 18 of 19 samples studied, the rearranged bcl-2 fragment also hybridized with a probe for the joining region of the immunoglobulin heavy chain gene located on chromosome 14, indicating a 14; 18 translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 44, "end": 49}], "disease": [{"text": "translocation", "start": 196, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2).", "output": {"entities": {"gene": [{"text": "APOH", "start": 137, "end": 141}], "disease": [{"text": "schizophrenia", "start": 104, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOH", "start": 137, "end": 141}, "tail": {"text": "schizophrenia", "start": 104, "end": 117}}]}}, "schema": []}
{"input": "Ablation of cereblon attenuates myocardial ischemia-reperfusion injury.", "output": {"entities": {"gene": [{"text": "cereblon", "start": 12, "end": 20}], "disease": [{"text": "myocardial ischemia", "start": 32, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether LL-37 and human beta defensin-2 (hBD-2) is related to the patients with psoriasis seldom having skin infections and explore the role of the two peptides and CCR6 (the receptor of hBD-2) in the pathogenesis of psoriasis, the expression levels of mRNA of LL-37, hBD-2, and CCR6 in skin lesions of patients with psoriasis vulgaris were detected by using RT-PCR.", "output": {"entities": {"gene": [{"text": "hBD-2", "start": 56, "end": 61}], "disease": [{"text": "skin infections", "start": 119, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion.", "output": {"entities": {"gene": [{"text": "BCOR", "start": 41, "end": 45}], "disease": [{"text": "bone sarcoma", "start": 17, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCOR", "start": 41, "end": 45}, "tail": {"text": "bone sarcoma", "start": 17, "end": 29}}]}}, "schema": []}
{"input": "Real-time PCR and Western blot analysis were performed to detect Notch-1, Notch-2, Notch-3 and Notch-4 receptor expression in breast cancer cells when PEA3 was knocked down by siRNA.", "output": {"entities": {"gene": [{"text": "Notch-4", "start": 95, "end": 102}], "disease": [{"text": "breast cancer", "start": 126, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Notch-4", "start": 95, "end": 102}, "tail": {"text": "breast cancer", "start": 126, "end": 139}}]}}, "schema": []}
{"input": "Forced expression of HIF-1alpha in p53-expressing tumor cells increases hypoxia-induced VEGF expression and augments neovascularization and growth of tumor xenografts.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 88, "end": 92}], "disease": [{"text": "hypoxia", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.", "output": {"entities": {"gene": [{"text": "ALOX12B", "start": 122, "end": 129}], "disease": [{"text": "nonbullous congenital ichthyosiform erythroderma", "start": 41, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALOX12B", "start": 122, "end": 129}, "tail": {"text": "nonbullous congenital ichthyosiform erythroderma", "start": 41, "end": 89}}]}}, "schema": []}
{"input": "The decreased expressions of BAIs in high-grade gliomas were observed, but BAI3 expression was generally lower in malignant gliomas than in normal brain.", "output": {"entities": {"gene": [{"text": "BAI3", "start": 75, "end": 79}], "disease": [{"text": "gliomas", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Following sequencing of the p53 gene in U87 and U373 glioma cell lines, p53 was found to be reactive in the p53 wild-type line U87 in response to hypoxia but not in the p53 mutant line, U373.", "output": {"entities": {"gene": [{"text": "U87", "start": 40, "end": 43}], "disease": [{"text": "glioma", "start": 53, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "These observations define what we believe to be a new role for DBC1 as an in vivo regulator of SIRT1 activity and liver steatosis.", "output": {"entities": {"gene": [{"text": "DBC1", "start": 63, "end": 67}], "disease": [{"text": "liver steatosis", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Both the index patient (BMI 42. 06 kg/m2, height 171 cm, age 19. 6 years) and her mother (BMI 37. 55 kg/m2, height 164 cm, age 42. 5 years) were heterozygous for the deletion. b) A nonsense mutation at position 35 of the MC4-R was detected in two obese probands (BMI 31. 29 kg/m2 and BMI 45. 91 kg/m2).", "output": {"entities": {"gene": [{"text": "MC4-R", "start": 221, "end": 226}], "disease": [{"text": "obese", "start": 247, "end": 252}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MC4-R", "start": 221, "end": 226}, "tail": {"text": "obese", "start": 247, "end": 252}}]}}, "schema": []}
{"input": "The odds of dementia was two-fold higher among those with ACE II genotype, and ranged from 2. 18 to 4. 35 among those with dementia onset < or = 70 years, an APOEepsilon4 allele, systolic blood pressure < 160 mmHg, body mass index < 25 kg/m (2), and in women only, waist circumference < or = 88 cm and hip circumference < 101 cm.", "output": {"entities": {"gene": [{"text": "ACE", "start": 58, "end": 61}], "disease": [{"text": "waist circumference", "start": 265, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "As many neurodegenerative conditions have similar clinical features we screened a number of adult and childhood onset movement disorders for PANK2 mutation.", "output": {"entities": {"gene": [{"text": "PANK2", "start": 141, "end": 146}], "disease": [{"text": "childhood onset", "start": 102, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In samples from seven patients two distinct t (14; 18) translocations were shown to be present simultaneously; in one case the second translocation involved the minor cluster region of the BCL2 gene.", "output": {"entities": {"gene": [{"text": "BCL2 gene", "start": 189, "end": 198}], "disease": [{"text": "translocation", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that factor IXa generation in vivo results mainly from the activity of the tissue factor mechanism rather than the contact system (factor XII, prekallikrein, high molecular-weight kininogen, factor XI).", "output": {"entities": {"gene": [{"text": "prekallikrein", "start": 163, "end": 176}], "disease": [{"text": "weight", "start": 193, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Using a cohort of over 700 AAV patients, two SLE case-control studies and an SLE trio collection (totalling over 1000 SLE patients), and a TaqMan genotyping approach, we tested 3 SNPs in the IL2RA locus, rs11594656, rs2104286 & rs41295061, each with a prior association with autoimmune disease; rs11594656 and rs41295061 with type 1 diabetes (T1D) and rs2104286 with multiple sclerosis (MS) and T1D.", "output": {"entities": {"gene": [{"text": "AAV", "start": 27, "end": 30}], "disease": [{"text": "multiple sclerosis", "start": 367, "end": 385}]}, "relations": {}}, "schema": []}
{"input": "Expression of MUC1, MUC2, MUC3 and MUC4 mucin mRNAs in human pancreatic and intestinal tumor cell lines.", "output": {"entities": {"gene": [{"text": "MUC4", "start": 35, "end": 39}], "disease": [{"text": "intestinal tumor", "start": 76, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We tested for association of NTRK2 with COMD in two independent samples: (a) a case-control sample matched on ethnicity and gender, consisting of 120 cases who met DSM III/IV criteria for major depressive or dysthymic disorder before age 14 or bipolar I/II before the age of 18, and controls, and (b) a family based control sample of 113 families collected in Hungary, identified by a proband between the age of 7 and 14 who met DSM IV criteria for major depressive disorder or bipolar I/II disorder.", "output": {"entities": {"gene": [{"text": "NTRK2", "start": 29, "end": 34}], "disease": [{"text": "dysthymic disorder", "start": 208, "end": 226}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NTRK2", "start": 29, "end": 34}, "tail": {"text": "dysthymic disorder", "start": 208, "end": 226}}]}}, "schema": []}
{"input": "Epiregulin (EPI) and amphiregulin (AR) are epidermal growth factor receptor (EGFR) ligands implicated in mucosal repair and tumorigenesis.", "output": {"entities": {"gene": [{"text": "Epiregulin", "start": 0, "end": 10}], "disease": [{"text": "tumorigenesis", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Quantitative real-time reverse transcription-PCR for Selenoprotein-P demonstrated a similar down-regulation of the transcript of this gene in a subset of human prostate tumors, mouse tumors, and prostate carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "Selenoprotein-P", "start": 53, "end": 68}], "disease": [{"text": "prostate tumors", "start": 160, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Selenoprotein-P", "start": 53, "end": 68}, "tail": {"text": "prostate tumors", "start": 160, "end": 175}}]}}, "schema": []}
{"input": "Murine MMP9 expression was induced in the circulation shortly after WNV infection, and the protein levels remained high even when viremia subsided.", "output": {"entities": {"gene": [{"text": "MMP9", "start": 7, "end": 11}], "disease": [{"text": "viremia", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "To describe a family with 13 members in four generations affected by early-onset isolated painful arthritis limited to the first metatarsophalangeal (MTP) joint but without evidence of generalized joint disease at follow-up.", "output": {"entities": {"gene": [{"text": "MTP", "start": 150, "end": 153}], "disease": [{"text": "joint disease", "start": 197, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "This increased sensitivity correlated with increased expression of the gene encoding the ubiquitin hydrolase/ligase ubiquitin carboxyterminal esterase L1 (UCH-L1) and with increased degradation of the PPARgamma heterodimerization partner retinoid X receptor alpha (RXRalpha), but not RXRbeta, in visceral WAT from obese humans and mice.", "output": {"entities": {"gene": [{"text": "retinoid X receptor alpha", "start": 238, "end": 263}], "disease": [{"text": "obese", "start": 314, "end": 319}]}, "relations": {}}, "schema": []}
{"input": "Inhibiting PTEN may serve as a potential approach to exert cardiac protection against ischemia reperfusion injury.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 11, "end": 15}], "disease": [{"text": "ischemia reperfusion injury", "start": 86, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTEN", "start": 11, "end": 15}, "tail": {"text": "ischemia reperfusion injury", "start": 86, "end": 113}}]}}, "schema": []}
{"input": "JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.", "output": {"entities": {"gene": [{"text": "JAK1", "start": 0, "end": 4}], "disease": [{"text": "hypereosinophilic syndrome", "start": 76, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JAK1", "start": 0, "end": 4}, "tail": {"text": "hypereosinophilic syndrome", "start": 76, "end": 102}}]}}, "schema": []}
{"input": "Activation of adenosine A3 receptor alleviates TNF-α-induced inflammation through inhibition of the NF-κB signaling pathway in human colonic epithelial cells.", "output": {"entities": {"gene": [{"text": "adenosine A3 receptor", "start": 14, "end": 35}], "disease": [{"text": "inflammation", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.", "output": {"entities": {"gene": [{"text": "VHL", "start": 33, "end": 36}], "disease": [{"text": "von Hippel-Lindau disease", "start": 45, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VHL", "start": 33, "end": 36}, "tail": {"text": "von Hippel-Lindau disease", "start": 45, "end": 70}}]}}, "schema": []}
{"input": "Compared with GC with MSI-L or MSS, GC with MSI-H had a significantly higher frequency of antral location, intestinal subtype, H. pylori seropositivity, but a lower incidence of lymph node metastasis, and displayed a higher frequency of frameshift mutations of TGFbetaRII, IGFIIR, BAX, MSH3, and E2F4 genes but a lower incidence of TP53 mutations.", "output": {"entities": {"gene": [{"text": "E2F4", "start": 296, "end": 300}], "disease": [{"text": "lymph node metastasis", "start": 178, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, neither a deletion nor a mutation was detected in the other allele, and wild-type mRNA sequence was expressed in the tumor, suggesting that the MEN1 gene was not inactivated by a conventional two-hit mechanism.", "output": {"entities": {"gene": [{"text": "MEN1 gene", "start": 159, "end": 168}], "disease": [{"text": "hit", "start": 211, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "The present cases are the first Japanese patients with TSH resistance in whom mutations in the TSH receptor gene have been identified.", "output": {"entities": {"gene": [{"text": "TSH receptor", "start": 95, "end": 107}], "disease": [{"text": "TSH resistance", "start": 55, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSH receptor", "start": 95, "end": 107}, "tail": {"text": "TSH resistance", "start": 55, "end": 69}}]}}, "schema": []}
{"input": "Regulation of EMT by Notch signaling pathway in tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 14, "end": 17}], "disease": [{"text": "tumor progression", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "One SNP (rs4499545) in the ROPN1-KALRN intergenic region and two SNPs in KALRN (rs17286604 and rs11712619) showed significant (P < 0. 05) allelic and genotypic (unadjusted and adjusted for hypertension, diabetes, and ever smoking) association with IS risk.", "output": {"entities": {"gene": [{"text": "KALRN", "start": 33, "end": 38}], "disease": [{"text": "diabetes", "start": 203, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Forty-nine out of 70 genes from this model, such as CSF2RB, NFKBIE, ENDOG, CASP10 and CASP3, were differentially expressed (corrected p-value < 0. 05) in periodontitis samples when compared to those of healthy controls.", "output": {"entities": {"gene": [{"text": "NFKBIE", "start": 60, "end": 66}], "disease": [{"text": "periodontitis", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The current findings confirm the genetic association of defective Cd36 with disordered insulin action and fatty acid metabolism in the SHR/NIH strain and suggest that Cd36 is linked to other gene (s) on rat chromosome 4 that regulate blood pressure.", "output": {"entities": {"gene": [{"text": "Cd36", "start": 66, "end": 70}], "disease": [{"text": "blood pressure", "start": 234, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, overexpression of Sirt3 increased the bax/bcl-2 and bad/bcl-x/L ratios, and promoted AIF translocation to the nucleus.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 55, "end": 60}], "disease": [{"text": "translocation", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The effect of ARB-associated mutations of BEST1 on the cellular localization was determined by in vitro experiments.", "output": {"entities": {"gene": [{"text": "BEST1", "start": 42, "end": 47}], "disease": [{"text": "ARB", "start": 14, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BEST1", "start": 42, "end": 47}, "tail": {"text": "ARB", "start": 14, "end": 17}}]}}, "schema": []}
{"input": "Bcl2 translocation and Bcl6 translocation were detected and compared using fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "Bcl2", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, female offspring of SUPP and DEF fathers had a significantly lower body weight than those of CTRL fed fathers.", "output": {"entities": {"gene": [{"text": "CTRL", "start": 108, "end": 112}], "disease": [{"text": "body weight", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Role of adiponectin and inflammation in insulin resistance of Mc3r and Mc4r knockout mice.", "output": {"entities": {"gene": [{"text": "Mc4r", "start": 71, "end": 75}], "disease": [{"text": "inflammation", "start": 24, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In cases carrying a MALT1 translocation, FISH for API2-MALT1 was performed, whereas in those carrying an IGH translocation, FISH was performed for BCL10, BCL6, BCL2, c-MYC and/or CCND1.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 160, "end": 164}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The most significant predictors for pathogenic or unclassified variant changes in BRCA1 in ovarian cancer patients were a younger age of onset and a history of hyperthyroidism and infertility.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 82, "end": 87}], "disease": [{"text": "infertility", "start": 180, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "The 5-HT (2B) receptor antagonist SB 204741 partially reversed cardiac hypertrophy induced by NE overload (P & lt; 0. 05) and decreased L-type calcium currents in ventricular cardiomyocytes (P & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "5-HT (2B) receptor", "start": 4, "end": 22}], "disease": [{"text": "cardiac hypertrophy", "start": 63, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (2B) receptor", "start": 4, "end": 22}, "tail": {"text": "cardiac hypertrophy", "start": 63, "end": 82}}]}}, "schema": []}
{"input": "A CD133 (+)-enriched U87 glioma cell population, isolated from parental U87 cells with magnetic cell sorting technology, also grew as neurospheres and showed enhanced COX-2 expression.", "output": {"entities": {"gene": [{"text": "U87", "start": 21, "end": 24}], "disease": [{"text": "glioma", "start": 25, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "FHH should be clearly differentiated by PHPT to avoid unnecessary surgery: CCCR could be a useful screening tool while genetic analysis should include the two novel CaSR mutations herein described.", "output": {"entities": {"gene": [{"text": "CaSR", "start": 165, "end": 169}], "disease": [{"text": "FHH", "start": 0, "end": 3}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CaSR", "start": 165, "end": 169}, "tail": {"text": "FHH", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "APOE epsilon4 is not a susceptibility gene in idiopathic or diabetic sensory neuropathy.", "output": {"entities": {"gene": [{"text": "APOE", "start": 0, "end": 4}], "disease": [{"text": "sensory neuropathy", "start": 69, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Decreased immunostaining for the winged helix transcription factor FOXA2 was associated with goblet cell hyperplasia in IL-1beta-expressing mice.", "output": {"entities": {"gene": [{"text": "FOXA2", "start": 67, "end": 72}], "disease": [{"text": "hyperplasia", "start": 105, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The levels of the free mutant TTR increased with the orifice corn voltage at 90 V. In contrast, increase in orifice voltage from 60 to 90 V produced a reduction in the level of normal TTR.", "output": {"entities": {"gene": [{"text": "TTR", "start": 30, "end": 33}], "disease": [{"text": "corn", "start": 61, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Effects of MUC20 on cell viability, adhesion, migration, and invasion were analyzed in MUC20 overexpressing or knockdown EOC cells.", "output": {"entities": {"gene": [{"text": "MUC20", "start": 11, "end": 16}], "disease": [{"text": "adhesion", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "beta-mannosidase, encoded by MANBA, has been suggested to be implicated in cancers, while genetic variations in the MANBA in relation to colorectal cancer (CRC) risk has not been examined.", "output": {"entities": {"gene": [{"text": "MANBA", "start": 29, "end": 34}], "disease": [{"text": "cancers", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "TRPV1 mRNA was identified by quantitative RT-PCR in U373, U87, FC1 and FLS glioma cells, with U373 cells showing higher, and U87, FC1 and FLS cells lower TRPV1 expression as compared with normal human astrocytes.", "output": {"entities": {"gene": [{"text": "U87", "start": 58, "end": 61}], "disease": [{"text": "glioma", "start": 75, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of FXR expression in esophageal cancer cells in vitro and in nude mice xenografts was suppressed by FXR small hairpin RNA (shRNA) and guggulsterone (a natural FXR inhibitor).", "output": {"entities": {"gene": [{"text": "FXR", "start": 13, "end": 16}], "disease": [{"text": "esophageal cancer", "start": 31, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The frequency of TNF-alpha/-857T and optineurin/412A carriers was significantly higher (P = 0. 006) in patients with POAG than in control subjects.", "output": {"entities": {"gene": [{"text": "optineurin", "start": 37, "end": 47}], "disease": [{"text": "POAG", "start": 117, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "optineurin", "start": 37, "end": 47}, "tail": {"text": "POAG", "start": 117, "end": 121}}]}}, "schema": []}
{"input": "These findings suggest a role for KNSTRN mutagenesis in SCC development.", "output": {"entities": {"gene": [{"text": "KNSTRN", "start": 34, "end": 40}], "disease": [{"text": "SCC", "start": 56, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KNSTRN", "start": 34, "end": 40}, "tail": {"text": "SCC", "start": 56, "end": 59}}]}}, "schema": []}
{"input": "The mutation in HPRTFlint disrupts a strongly conserved region among PRTases from Escherichia coli, rodents and man, suggesting an important role for this region for the normal function of HPRT.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 16, "end": 20}], "disease": [{"text": "HPRTFlint", "start": 16, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HPRT", "start": 16, "end": 20}, "tail": {"text": "HPRTFlint", "start": 16, "end": 25}}]}}, "schema": []}
{"input": "Taken together, these results demonstrate an unexpected role for ASC in Sonic hedgehog-driven medulloblastoma tumorigenesis, thus identifying ASC as a promising novel target for antitumor therapy.", "output": {"entities": {"gene": [{"text": "Sonic hedgehog", "start": 72, "end": 86}], "disease": [{"text": "tumorigenesis", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Expression of C5aR, inflammatory cytokines and adhesion molecules were analyzed by real-time RT-PCR.", "output": {"entities": {"gene": [{"text": "C5aR", "start": 14, "end": 18}], "disease": [{"text": "adhesion", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Renal interstitial fibrosis (RIF) is the common pathological process of chronic kidney diseases leading inevitably to renal function deterioration.", "output": {"entities": {"gene": [{"text": "RIF", "start": 29, "end": 32}], "disease": [{"text": "chronic kidney diseases", "start": 72, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Twenty-five PTCs (11 with BRAF (V600E), 4 with RET/PTC1, and 10 without mutation in HRAS, KRAS, NRAS, BRAF, RET/PTC1, or RET/PTC3) were analyzed using Genome-Wide Human SNP Array 6. 0 which allows us to detect copy number alteration (CNA) and uniparental disomy (UPD), also referred to as copy neutral loss of heterozygosity, in a single experiment.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 84, "end": 88}], "disease": [{"text": "uniparental disomy", "start": 243, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that GNPAT, SUMO1, SPINT2, FLI1, and SSX1 play critical roles in synergy with inflammation pathways in modulating melanoma cell survival and could serve as sensitizing targets to enhance CDDO-Me efficacy in melanoma growth control.", "output": {"entities": {"gene": [{"text": "SUMO1", "start": 34, "end": 39}], "disease": [{"text": "melanoma", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "This study provides a reference for elucidating the complex miRNA-mediated regulatory networks of PRL/PRLR signaling pathway that affect breast cancer tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "PRLR", "start": 102, "end": 106}], "disease": [{"text": "tumorigenesis", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Altogether, these results suggest that SKP2 and the ubiquitin-proteasome pathway may be a potential target for therapeutic intervention in DLBCL.", "output": {"entities": {"gene": [{"text": "SKP2", "start": 39, "end": 43}], "disease": [{"text": "DLBCL", "start": 139, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SKP2", "start": 39, "end": 43}, "tail": {"text": "DLBCL", "start": 139, "end": 144}}]}}, "schema": []}
{"input": "Expression of PAX8 in nephrogenic adenoma and clear cell adenocarcinoma of the lower urinary tract: evidence of related histogenesis?", "output": {"entities": {"gene": [{"text": "PAX8", "start": 14, "end": 18}], "disease": [{"text": "clear cell adenocarcinoma", "start": 46, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In one MCD II family, a homozygous deletion in the upstream region of CHST6 gene was found.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 70, "end": 75}], "disease": [{"text": "MCD", "start": 7, "end": 10}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 70, "end": 75}, "tail": {"text": "MCD", "start": 7, "end": 10}}]}}, "schema": []}
{"input": "One hundred sixty-one suitable patients were identified and tested for the bcl-2 MBR translocation, with 27 (17%) found to be positive; 153 of these patients were tested with immunocytochemistry, and 84 (55%) showed evidence of Bcl-2 expression.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 228, "end": 233}], "disease": [{"text": "translocation", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Intranasal \" painless \" human Nerve Growth Factor [corrected] slows amyloid neurodegeneration and prevents memory deficits in App X PS1 mice.", "output": {"entities": {"gene": [{"text": "Nerve Growth Factor", "start": 30, "end": 49}], "disease": [{"text": "neurodegeneration", "start": 76, "end": 93}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nerve Growth Factor", "start": 30, "end": 49}, "tail": {"text": "neurodegeneration", "start": 76, "end": 93}}]}}, "schema": []}
{"input": "Hb Johnstown [beta 109 (G11) Val--> Leu]: second case described and associated for the first time with beta (0)-thalassemia in two Spanish families.", "output": {"entities": {"gene": [{"text": "G11", "start": 24, "end": 27}], "disease": [{"text": "thalassemia", "start": 112, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Both inhibitors, applied just before and during 1-wk hypoxia, equally reduced pulmonary arterial pressure (PAP) measured under ketamine + xylazine anesthesia.", "output": {"entities": {"gene": [{"text": "PAP", "start": 107, "end": 110}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In patients with only coma (n = 15), only delirium (n = 7), and neither ever (n = 14), we measured plasma levels of tumor necrosis factor-& #945;, interleukin (IL)-1 & #946;, IL-1RA, IL-6, IL-8, IL-10, IL-17, macrophage inflammatory protein-1 & #946;, and monocyte chemotactic protein-1.", "output": {"entities": {"gene": [{"text": "IL-1RA", "start": 175, "end": 181}], "disease": [{"text": "delirium", "start": 42, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1RA", "start": 175, "end": 181}, "tail": {"text": "delirium", "start": 42, "end": 50}}]}}, "schema": []}
{"input": "There is a greater relationship between merosin and the former proteins; among MP-CMD patients, no remarkable immunohistochemical/phenotypical correlations were found, although the reduced expression of beta-DG had showed statistically significant correlation with severe phenotype and marked fibrosis on muscular biopsy.", "output": {"entities": {"gene": [{"text": "merosin", "start": 40, "end": 47}], "disease": [{"text": "fibrosis", "start": 293, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "TGFBIp increased both CCL21 expression in LECs, a chemokine that actively recruits tumor cells expressing the cognate chemokine receptors to lymphatic vessels and LEC permeability by inducing the dissociation of VE-cadherin junctions between LECs via the activation of SRC signaling.", "output": {"entities": {"gene": [{"text": "CCL21", "start": 22, "end": 27}], "disease": [{"text": "dissociation", "start": 196, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "The AML1/EVI-1 chimeric gene is generated by the t (3; 21) (q26; q22) translocation and plays a pivotal role in progression of hematopoietic stem cell malignancies such as chronic myelocytic leukemia and myelodysplastic syndrome.", "output": {"entities": {"gene": [{"text": "AML1", "start": 4, "end": 8}], "disease": [{"text": "translocation", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We propose that the expression of selected RNA-based HIV-1 inhibitors in the CD4 + cells derived from GM-HSPC will protect them from HIV-1 infection and results in a sufficient immune repertoire to control HIV-1 viremia resulting in a functional cure for HIV-1/AIDS.", "output": {"entities": {"gene": [{"text": "HSPC", "start": 105, "end": 109}], "disease": [{"text": "viremia", "start": 212, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Gene expression signatures were used as surrogates for the expression versus loss of the translocation in AML1-ETO-expressing cells.", "output": {"entities": {"gene": [{"text": "AML1", "start": 106, "end": 110}], "disease": [{"text": "translocation", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In sera from 35 persons with autism, among cytokines, only tumor necrosis factor receptor II was elevated compared with controls (P & lt; 0. 02).", "output": {"entities": {"gene": [{"text": "tumor necrosis factor receptor II", "start": 59, "end": 92}], "disease": [{"text": "autism", "start": 29, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor receptor II", "start": 59, "end": 92}, "tail": {"text": "autism", "start": 29, "end": 35}}]}}, "schema": []}
{"input": "Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca (2 +)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.", "output": {"entities": {"gene": [{"text": "ATP2A2", "start": 42, "end": 48}], "disease": [{"text": "DD", "start": 55, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2A2", "start": 42, "end": 48}, "tail": {"text": "DD", "start": 55, "end": 57}}]}}, "schema": []}
{"input": "We have analysed the gene encoding the kidney isozyme of 11 beta HSD and found mutations on both alleles in nine of 11 AME patients (eight of nine kindreds).", "output": {"entities": {"gene": [{"text": "11 beta HSD", "start": 57, "end": 68}], "disease": [{"text": "AME", "start": 119, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "11 beta HSD", "start": 57, "end": 68}, "tail": {"text": "AME", "start": 119, "end": 122}}]}}, "schema": []}
{"input": "We determined the expression levels of mRNAs for haematopoietic PGD synthase (H-PGDS) and lipocalin-type PGDS (L-PGDS), MIP-1 alpha, IFN-gamma, IL-4, and CDX2 in H. pylori-induced gastritis mucosa by quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "IFN", "start": 133, "end": 136}], "disease": [{"text": "gastritis", "start": 180, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "These data support a positive contribution of MKK7/JNK to oxaliplatin cytotoxicity and identify SEK1 as a potential target for reversal of hypoxic resistance to oxaliplatin.", "output": {"entities": {"gene": [{"text": "MKK7", "start": 46, "end": 50}], "disease": [{"text": "hypoxic", "start": 139, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The translocation t (8; 21) (q22; q22), which results in the fusion of the AML1 (RUNX1) and ETO (CBFA2T1) genes, is a recurrent aberration in acute myeloid leukemia (AML), preferentially correlated with FAB M2, and has the highest incidence in childhood AML.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 81, "end": 86}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "We have now analysed the p53 gene in a family affected by Li-Fraumeni syndrome, a rare autosomal dominant syndrome characterized by the occurrence of diverse mesenchymal and epithelial neoplasms at multiple sites.", "output": {"entities": {"gene": [{"text": "p53", "start": 25, "end": 28}], "disease": [{"text": "Li-Fraumeni syndrome", "start": 58, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p53", "start": 25, "end": 28}, "tail": {"text": "Li-Fraumeni syndrome", "start": 58, "end": 78}}]}}, "schema": []}
{"input": "Specimens of the primary carcinoma were available for analysis of hormone receptor, Ki67 labelling index, epidermal growth factor receptor (EGFR), c-erbB-2, p53 and ras p21.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 84, "end": 88}], "disease": [{"text": "primary carcinoma", "start": 17, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We conclude that structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "RAR", "start": 44, "end": 47}], "disease": [{"text": "schizophrenia", "start": 112, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAR", "start": 44, "end": 47}, "tail": {"text": "schizophrenia", "start": 112, "end": 125}}]}}, "schema": []}
{"input": "To evaluate whether somatic mutations of LKB1 contribute to the tumorigenesis of yet unstudied tumor types, we screened 14 cell lines and 129 tumor specimens from different cancers for a genetic defect in LKB1.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 41, "end": 45}], "disease": [{"text": "tumorigenesis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We also describe an original mouse model of invasive keratoacanthoma driven by skin-specific expression of the truncated Zmiz1 transcript.", "output": {"entities": {"gene": [{"text": "Zmiz1", "start": 121, "end": 126}], "disease": [{"text": "keratoacanthoma", "start": 53, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Altogether, our data show that in leukemic cells adhesion to fibronectin increases CDC25A expression through proteasome-and Chk1-dependent mechanisms, resulting in enhanced proliferation.", "output": {"entities": {"gene": [{"text": "CDC25A", "start": 83, "end": 89}], "disease": [{"text": "adhesion", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Treatment of minimal residual disease after surgery or chemotherapy in mice carrying HPV16-associated tumours: Cytokine and gene therapy with IL-2 and GM-CSF.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 142, "end": 146}], "disease": [{"text": "minimal residual disease", "start": 13, "end": 37}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-2", "start": 142, "end": 146}, "tail": {"text": "minimal residual disease", "start": 13, "end": 37}}]}}, "schema": []}
{"input": "Coexpression of CCK2R and phospho-FAK associated with invasion and lymph node metastasis.", "output": {"entities": {"gene": [{"text": "FAK", "start": 34, "end": 37}], "disease": [{"text": "lymph node metastasis", "start": 67, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "PI-3K generates phosphatidylinositol-3, 4, 5-trisphosphate (PIP (3)), a lipid second messenger essential for the translocation of PKB/Akt to the plasma membrane where it is phosphorylated and activated by phosphoinositide-dependent kinase-1 (PDK-1) and possibly other kinases.", "output": {"entities": {"gene": [{"text": "PKB", "start": 130, "end": 133}], "disease": [{"text": "translocation", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Specialized cancer-associated fibroblasts (CAFs) in the ECM influence tumorigenesis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 56, "end": 59}], "disease": [{"text": "tumorigenesis", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We now report a Cx26 mutation in three families with mutilating keratoderma and deafness [Vohwinkel' s syndrome (VS; MIM 124500), as originally described].", "output": {"entities": {"gene": [{"text": "MIM", "start": 117, "end": 120}], "disease": [{"text": "mutilating keratoderma", "start": 53, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Moreover, TrkC significantly inhibits apoptosis via induction of the expression of PLK-1 and Twist-1 through activation of AKT/mTor pathway; therefore, it plays a key role in leukemogenesis.", "output": {"entities": {"gene": [{"text": "TrkC", "start": 10, "end": 14}], "disease": [{"text": "leukemogenesis", "start": 175, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "To compare the wild-type (Pro/Pro) carriers in diabetics from each ethnic group, Ugyur subjects, who carry PPAR-g Pro12Ala (Pro/Ala), had a larger waist circumference and lower low-density lipoprotein-cholesterol level, Kazaks subjects showed larger waist circumference and higher high-density lipoprotein levels and Han subjects exhibited a high waist-to-hip ratio and body mass index.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 107, "end": 111}], "disease": [{"text": "waist circumference", "start": 147, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The proportion of breast carcinomas that were MMR-deficient based on absent MMR protein, presence of microsatellite instability, or both was significantly (P = 0. 00016) higher among breast carcinomas from mutation carriers (13/20, 65%) compared to non-carriers (0/14, 0%).", "output": {"entities": {"gene": [{"text": "MMR", "start": 46, "end": 49}], "disease": [{"text": "microsatellite instability", "start": 101, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Recently, astrocyte-elevated gene-1 (AEG-1) and insulin-like growth factor 1 (IGF-1) have been involved in the regulation of multiple signaling pathways in tumorigenesis.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 37, "end": 42}], "disease": [{"text": "tumorigenesis", "start": 156, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "SMRT-GPS2 corepressor pathway dysregulation coincides with obesity-linked adipocyte inflammation.", "output": {"entities": {"gene": [{"text": "GPS2", "start": 5, "end": 9}], "disease": [{"text": "inflammation", "start": 84, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We have tested the hypothesis that the angiotensin-converting enzyme (ACE) DD genotype and the angiotensin II type I receptor (AT1R) gene C allele represent the common link between microalbuminuria and coronary heart disease.", "output": {"entities": {"gene": [{"text": "ACE", "start": 70, "end": 73}], "disease": [{"text": "microalbuminuria", "start": 181, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that troglitazone may exert beneficial effects on insulin resistance by increasing the expression of GLUT4 in adipose tissue.", "output": {"entities": {"gene": [{"text": "GLUT4", "start": 121, "end": 126}], "disease": [{"text": "insulin resistance", "start": 70, "end": 88}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GLUT4", "start": 121, "end": 126}, "tail": {"text": "insulin resistance", "start": 70, "end": 88}}]}}, "schema": []}
{"input": "In addition to regulating tumorigenesis through modulation of the phosphoproteome, Rho kinase signaling also contributes to the regulation of the tumor transcriptome.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 83, "end": 93}], "disease": [{"text": "tumorigenesis", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Cultured monkey RPE cells were exposed to low oxygen and chemical hypoxia mimetics.", "output": {"entities": {"gene": [{"text": "RPE", "start": 16, "end": 19}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The aim of our study was to determine ACT signal peptide polymorphism (A/T) as a possible risk factor for post-stroke dementia (PSD).", "output": {"entities": {"gene": [{"text": "PSD", "start": 128, "end": 131}], "disease": [{"text": "stroke", "start": 111, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "As IL-21 regulates IgE production, a key mediator of various allergic disorders and asthma, it is a prime candidate gene for studying atopic asthma.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 3, "end": 8}], "disease": [{"text": "atopic asthma", "start": 134, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of MFF attenuated hydrogen peroxide-and I/R injury-induced cardiomyocyte apoptosis and myocardial infarction.", "output": {"entities": {"gene": [{"text": "MFF", "start": 13, "end": 16}], "disease": [{"text": "myocardial infarction", "start": 97, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MFF", "start": 13, "end": 16}, "tail": {"text": "myocardial infarction", "start": 97, "end": 118}}]}}, "schema": []}
{"input": "Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 41, "end": 46}], "disease": [{"text": "sporadic", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "It was suggested that aberrant inhibitor of growth 5 expression may contribute to pathogenesis, growth, and invasion of colorectal carcinomas and could be considered as a promising marker to gauge aggressiveness of colorectal carcinomas.", "output": {"entities": {"gene": [{"text": "inhibitor of growth 5", "start": 31, "end": 52}], "disease": [{"text": "aggressiveness", "start": 197, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene coding for fused in sarcoma/translocated in liposarcoma (FUS) are responsible for some cases of both familial and sporadic forms of ALS.", "output": {"entities": {"gene": [{"text": "FUS", "start": 79, "end": 82}], "disease": [{"text": "sporadic", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "133 isolates (86. 9%) were resistant to both RIF and Isoniazid and 4 isolates (2. 6%) were RIF mono-resistant in MGIT SIRE liquid culture-based DST.", "output": {"entities": {"gene": [{"text": "DST", "start": 144, "end": 147}], "disease": [{"text": "mono", "start": 95, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The molecular basis of mitochondrial acetoacetyl-CoA thiolase (T2) deficiency was studied in two patients (GK11 and GK16).", "output": {"entities": {"gene": [{"text": "mitochondrial acetoacetyl-CoA thiolase", "start": 23, "end": 61}], "disease": [{"text": "T2) deficiency", "start": 63, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "mitochondrial acetoacetyl-CoA thiolase", "start": 23, "end": 61}, "tail": {"text": "T2) deficiency", "start": 63, "end": 77}}]}}, "schema": []}
{"input": "XLDCM is a rapidly progressive, almost exclusively myocardial disorder, starting in teenage males as heart failure due to dilative cardiomyopathy (CMP), leading to death from intractable heart failure within 1-2 years after diagnosis.", "output": {"entities": {"gene": [{"text": "CMP", "start": 147, "end": 150}], "disease": [{"text": "myocardial disorder", "start": 51, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "A search for thrombophilia in RAO is advisable in patients without evident source of emboli even when vascular risk factors are identified.", "output": {"entities": {"gene": [{"text": "RAO", "start": 30, "end": 33}], "disease": [{"text": "thrombophilia", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We concluded that differential expression of miR-93/106b and their direct and/or indirect regulatory functions on F3, IL8, CTGF, and PAI-1 expression, with key roles in inflammation and tissue turnover may be of significance in the outcome of leiomyoma growth and associated symptoms.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 123, "end": 127}], "disease": [{"text": "inflammation", "start": 169, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "ERβ-dependent neuroglobin up-regulation impairs 17β-estradiol-induced apoptosis in DLD-1 colon cancer cells upon oxidative stress injury.", "output": {"entities": {"gene": [{"text": "neuroglobin", "start": 14, "end": 25}], "disease": [{"text": "colon cancer", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "As the K320 p53 acetylation is the site predominantly affected in hypoxia, the PCAF histone acetyltransferase activity is the key regulator of the cellular fate modulated by p53 under these conditions.", "output": {"entities": {"gene": [{"text": "PCAF", "start": 79, "end": 83}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Expression of MLH1, MSH2, PMS1 and PMS2 was investigated immunohistochemically in 31 melanoma metastatic tumors.", "output": {"entities": {"gene": [{"text": "PMS1", "start": 26, "end": 30}], "disease": [{"text": "melanoma metastatic", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the invasive activities of cervical carcinoma cell lines (CAC-1, CaSki, and SiHa) and the gene expression of various matrix proteinases (matrix metalloproteinase-1 [MMP-1], MMP-2, MMP-9, membrane-type MMP type 1 [MT1-MMP], MT2-MMP, and MT3-MMP) and their inhibitors (tissue inhibitor of metalloproteinase type 1 [TIMP-1] and TIMP-2).", "output": {"entities": {"gene": [{"text": "MT3-MMP", "start": 248, "end": 255}], "disease": [{"text": "cervical carcinoma", "start": 39, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans.", "output": {"entities": {"gene": [{"text": "SOBP", "start": 25, "end": 29}], "disease": [{"text": "psychosis", "start": 80, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOBP", "start": 25, "end": 29}, "tail": {"text": "psychosis", "start": 80, "end": 89}}]}}, "schema": []}
{"input": "A novel mutation in KLHL3 gene causes familial hyperkalemic hypertension.", "output": {"entities": {"gene": [{"text": "KLHL3", "start": 20, "end": 25}], "disease": [{"text": "familial hyperkalemic hypertension", "start": 38, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KLHL3", "start": 20, "end": 25}, "tail": {"text": "familial hyperkalemic hypertension", "start": 38, "end": 72}}]}}, "schema": []}
{"input": "No associations between non-synonymous NLRP7 variants and primary recurrent miscarriage or partial hydatidiform molar pregnancies were detected.", "output": {"entities": {"gene": [{"text": "NLRP7", "start": 39, "end": 44}], "disease": [{"text": "recurrent miscarriage", "start": 66, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The NCC inhibitor chlorothiazide abrogates FGF23-induced volume expansion and heart hypertrophy.", "output": {"entities": {"gene": [{"text": "FGF23", "start": 43, "end": 48}], "disease": [{"text": "heart hypertrophy", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Small interfering RNA knockdown of TRPV4 in mouse primary afferent neurons inhibited the hypersensitivity caused by supernatants from IBS biopsies.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 35, "end": 40}], "disease": [{"text": "hypersensitivity", "start": 89, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the complete cag-PAI of 174 representative Helicobacter pylori (H pylori) clinical isolates obtained from patients with duodenal ulcer, gastric ulcer, gastric cancer, and non-ulcer dyspepsia using eight different oligonucleotide primers viz cagA1, cagA2, cagAP1, cagAP2, cagE, cagT, LEC-1, LEC-2 spanning five different loci of the whole cag-PAI by polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "LEC", "start": 295, "end": 298}], "disease": [{"text": "gastric ulcer", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 42, "end": 46}], "disease": [{"text": "craniofacial-deafness-hand syndrome", "start": 54, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX3", "start": 42, "end": 46}, "tail": {"text": "craniofacial-deafness-hand syndrome", "start": 54, "end": 89}}]}}, "schema": []}
{"input": "A renal biopsy sample showed marked glomerular enlargement, collapse of glomerular capillaries, mesangial matrix expansion, and tubulointerstitial change, demonstrating typical histologic features of RCS.", "output": {"entities": {"gene": [{"text": "RCS", "start": 200, "end": 203}], "disease": [{"text": "enlargement", "start": 47, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The upregulation of several of these genes, IFITM1, IFITM2, IFITM3, APOL1 (Apolipoprotein L1), ADORA2A (adenosine receptor 2A), IGFBP4 and CD163 were validated in the schizophrenia subjects using data from the SNCID database and with quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "CD163", "start": 139, "end": 144}], "disease": [{"text": "schizophrenia", "start": 167, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD163", "start": 139, "end": 144}, "tail": {"text": "schizophrenia", "start": 167, "end": 180}}]}}, "schema": []}
{"input": "Kaplan-Meier and Cox regression models demonstrated that patients with low-miR-218 tumors or high-PXN tumors exhibited shorter overall survival (OS) and relapse-free survival (RFS) than those with high-miR-218 tumors or low-PXN tumors.", "output": {"entities": {"gene": [{"text": "PXN", "start": 98, "end": 101}], "disease": [{"text": "regression", "start": 21, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Overexpressing BCL-XL mesothelioma clones were created by plasmid transfer.", "output": {"entities": {"gene": [{"text": "BCL-XL", "start": 15, "end": 21}], "disease": [{"text": "mesothelioma", "start": 22, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Northern blot and immunohistochemical analyses of MX-1 tumor transplants showed that VEGF mRNA and VEGF protein levels were increased in mice 17 h after the induction of inspiratory hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 85, "end": 89}], "disease": [{"text": "hypoxia", "start": 182, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Adult brain tissues from NPAS3-and NPAS1/NPAS3-deficient mice exhibited a distinct reduction in reelin, a large, secreted protein whose expression has been reported to be attenuated in the postmortem brain tissue of patients with schizophrenia.", "output": {"entities": {"gene": [{"text": "NPAS1", "start": 35, "end": 40}], "disease": [{"text": "schizophrenia", "start": 230, "end": 243}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS1", "start": 35, "end": 40}, "tail": {"text": "schizophrenia", "start": 230, "end": 243}}]}}, "schema": []}
{"input": "Despite a modest in vitro effect, Bcl-2 ASO alone caused the regression of established xenograft tumors in mice, extending survival by 15 days in a C666-1 and by 6 days in a C15 model.", "output": {"entities": {"gene": [{"text": "C15", "start": 174, "end": 177}], "disease": [{"text": "regression", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "By means of a comparative genetic strategy within the human homologous region, we describe an association for TLL2 with bipolar disorder using the genome-wide association study (GWAS) data set generated by the Wellcome Trust Case Control Consortium (WTCCC).", "output": {"entities": {"gene": [{"text": "TLL2", "start": 110, "end": 114}], "disease": [{"text": "bipolar disorder", "start": 120, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLL2", "start": 110, "end": 114}, "tail": {"text": "bipolar disorder", "start": 120, "end": 136}}]}}, "schema": []}
{"input": "NMNAT1 mutations cause Leber congenital amaurosis.", "output": {"entities": {"gene": [{"text": "NMNAT1", "start": 0, "end": 6}], "disease": [{"text": "Leber congenital amaurosis", "start": 23, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NMNAT1", "start": 0, "end": 6}, "tail": {"text": "Leber congenital amaurosis", "start": 23, "end": 49}}]}}, "schema": []}
{"input": "Evidence supporting the presence of the DNAJB1-PRKACA chimeric transcript in 100% of the FL-HCCs examined (15/15) suggests that this genetic alteration contributes to tumor pathogenesis.", "output": {"entities": {"gene": [{"text": "DNAJB1", "start": 40, "end": 46}], "disease": [{"text": "FL-HCC", "start": 89, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNAJB1", "start": 40, "end": 46}, "tail": {"text": "FL-HCC", "start": 89, "end": 95}}]}}, "schema": []}
{"input": "To clarify individual differences in susceptibility to gallbladder carcinogenesis, we investigated the frequency of the Mspl and Ile-Val polymorphisms of the CYP1A1 gene, in 52 patients with gallbladder cancer (32 females, 20 males) and 104 healthy controls (64 females, 40 males).", "output": {"entities": {"gene": [{"text": "Mspl", "start": 120, "end": 124}], "disease": [{"text": "carcinogenesis", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Clonal cytogenetic abnormalities other than Ph were present in 13 patients and did not predict for lack of response to IFN.", "output": {"entities": {"gene": [{"text": "IFN", "start": 119, "end": 122}], "disease": [{"text": "cytogenetic abnormalities", "start": 7, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results suggest that eIF3i is induced by HIF1A under hypoxia and controls normal and tumorigenic angiogenesis through regulating VEGFA protein translation.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 149, "end": 154}], "disease": [{"text": "hypoxia", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "However, data from an animal model of HIV neurologic disorders may not be consistent with robust miRNA-mediated regulation of SAMHD1 in vivo.", "output": {"entities": {"gene": [{"text": "SAMHD1", "start": 126, "end": 132}], "disease": [{"text": "neurologic disorders", "start": 42, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "CHRNA6", "start": 112, "end": 118}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNA6", "start": 112, "end": 118}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "HIF-1alpha protein and VEGF mRNA decreased when chondrosarcoma cells were transfected with siRNA targeting HIF-1alpha prior to hypoxia exposure, suggesting that HIF-1alpha expression resulted in increased VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 23, "end": 27}], "disease": [{"text": "hypoxia", "start": 127, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we demonstrate that TOP2B influences the separation between RUNX1 and two translocation partners (RUNX1T1 and EVI) in the nucleus of lymphoid cells.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 73, "end": 78}], "disease": [{"text": "translocation", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "To delineate the mechanisms that facilitate leukocyte migration into the cystic fibrosis (CF) lung, expression of chemokines, including interleukin-8 (IL-8), monocyte chemoattractant protein-1 (MCP-1), and RANTES, was compared between CF and non-CF airway epithelia.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 194, "end": 199}], "disease": [{"text": "cystic fibrosis", "start": 73, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "To examine the role of FKBP5-trauma interactions in the partly stress-related psychosis phenotype.", "output": {"entities": {"gene": [{"text": "FKBP5", "start": 23, "end": 28}], "disease": [{"text": "psychosis", "start": 78, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FKBP5", "start": 23, "end": 28}, "tail": {"text": "psychosis", "start": 78, "end": 87}}]}}, "schema": []}
{"input": "We identified bi-allelic deleterious mutations in MEI1, TOP6BL/C11orf80, and REC114, with roles in meiotic double-strand breaks formation in women with recurrent androgenetic complete hydatidiform moles.", "output": {"entities": {"gene": [{"text": "MEI1", "start": 50, "end": 54}], "disease": [{"text": "complete hydatidiform moles", "start": 175, "end": 202}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEI1", "start": 50, "end": 54}, "tail": {"text": "complete hydatidiform moles", "start": 175, "end": 202}}]}}, "schema": []}
{"input": "Our data thus indicate that mutations in the CSF3R gene can be responsible for hereditary neutrophilia mimicking a myeloproliferative disorder.", "output": {"entities": {"gene": [{"text": "CSF3R", "start": 45, "end": 50}], "disease": [{"text": "hereditary neutrophilia", "start": 79, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CSF3R", "start": 45, "end": 50}, "tail": {"text": "hereditary neutrophilia", "start": 79, "end": 102}}]}}, "schema": []}
{"input": "EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.", "output": {"entities": {"gene": [{"text": "EDNRB", "start": 0, "end": 5}], "disease": [{"text": "Waardenburg syndrome type II", "start": 22, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDNRB", "start": 0, "end": 5}, "tail": {"text": "Waardenburg syndrome type II", "start": 22, "end": 50}}]}}, "schema": []}
{"input": "The macrophage migration inhibitory factor (MIF) is a pro-inflammatory cytokine that plays an important role in the pathogenesis of immune diseases.", "output": {"entities": {"gene": [{"text": "MIF", "start": 44, "end": 47}], "disease": [{"text": "immune diseases", "start": 132, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The region on chromosome 3p13-p14 known to contain several chromosomal translocation breakpoints in families with \" pure familial renal cell carcinoma \" is quite proximal to the VHL locus in 3p25-p26 we have identified.", "output": {"entities": {"gene": [{"text": "p14", "start": 30, "end": 33}], "disease": [{"text": "familial renal cell carcinoma", "start": 121, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Comparison of clinico-biological characteristics of patients with and without thrombosis revealed in the former group higher median white blood cell (WBC) count (17 x 10 (9)/l, range 1. 2-56, P = 0. 002), prevalence of the bcr3 transcript type (72 vs 48%, P = 0. 01), of FLT3-ITD (64 vs 28%, P = 0. 02), CD2 (P = 0. 0001) and CD15 (P = 0. 01) expression.", "output": {"entities": {"gene": [{"text": "CD15", "start": 326, "end": 330}], "disease": [{"text": "thrombosis", "start": 78, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD15", "start": 326, "end": 330}, "tail": {"text": "thrombosis", "start": 78, "end": 88}}]}}, "schema": []}
{"input": "The SDC1 expression profile varies among cancer types, but the differential expression signatures between normal and cancer cells in epithelial and stromal compartments are directly associated with aggressiveness of tumors and patient' s clinical outcome and survival.", "output": {"entities": {"gene": [{"text": "SDC1", "start": 4, "end": 8}], "disease": [{"text": "aggressiveness", "start": 198, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "The mRNA of GPAT was increased in islets of obese rats.", "output": {"entities": {"gene": [{"text": "GPAT", "start": 12, "end": 16}], "disease": [{"text": "obese", "start": 44, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "It is concluded that combined administration of low doses of Sbv plus IFN-gamma may provide a novel therapeutic approach for the treatment of antimony-resistant cutaneous or mucocutaneous leishmaniasis.", "output": {"entities": {"gene": [{"text": "IFN", "start": 70, "end": 73}], "disease": [{"text": "mucocutaneous leishmaniasis", "start": 174, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Substantially stable IL-4 release was detected by ELISA in the supernatant of transduced cells, ranging from 1. 6 to 4. 6 ng/ml per 10 (5) cells per 24 hr; such a cytokine displayed a specific biologic activity, as revealed by the stimulation of blast cell proliferation and the inhibition of lymphokine activated killer cell (LAK) induction by IL-2.", "output": {"entities": {"gene": [{"text": "LAK", "start": 327, "end": 330}], "disease": [{"text": "blast cell proliferation", "start": 246, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Their male sibling and mother presented a very mild asymptomatic form of CAH, characterized by elevated basal plasma levels of 17-hydroxyprogesterone (17-OHP) and exaggerated responses of progesterone and 17-OHP to ACTH stimulation.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 215, "end": 219}], "disease": [{"text": "asymptomatic", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Pathological investigations revealed that medial thickening of the pulmonary arterioles, which is a characteristic of hypoxia-induced PH, was absent in Pyk2-deficient mice, suggesting that Pyk2 is involved in the hypoxia-induced aberrant proliferation of vascular smooth muscle cells in hypoxia-induced PH.", "output": {"entities": {"gene": [{"text": "Pyk2", "start": 152, "end": 156}], "disease": [{"text": "hypoxia", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.", "output": {"entities": {"gene": [{"text": "Myosin binding protein C1", "start": 0, "end": 25}], "disease": [{"text": "distal arthrogryposis type 1", "start": 63, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Myosin binding protein C1", "start": 0, "end": 25}, "tail": {"text": "distal arthrogryposis type 1", "start": 63, "end": 91}}]}}, "schema": []}
{"input": "Methylation of the promoter regions of p16 and CDH13 in both tumor and mediastinal lymph nodes was associated with an odds ratio of recurrent cancer of 15. 50 in the original cohort and an odds ratio of 25. 25 when the original cohort was combined with an independent validation cohort of 20 patients with stage I NSCLC.", "output": {"entities": {"gene": [{"text": "CDH13", "start": 47, "end": 52}], "disease": [{"text": "NSCLC", "start": 314, "end": 319}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH13", "start": 47, "end": 52}, "tail": {"text": "NSCLC", "start": 314, "end": 319}}]}}, "schema": []}
{"input": "The differentiation-related gene 1, Drg1, is markedly upregulated by androgens in LNCaP prostatic adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "Drg1", "start": 36, "end": 40}], "disease": [{"text": "prostatic adenocarcinoma", "start": 88, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We conducted cross-sectional analyses within the Nurses' Health Study (n = 538), to investigate variation in mammographic breast density, by 10 polymorphisms in eight candidate genes (CYP17, CYP19, CYP1A1, CYP1B1, COMT, UGT1A1, AR, and AIB1).", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 220, "end": 226}], "disease": [{"text": "mammographic breast density", "start": 109, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The approach of single-strand conformational polymorphism analysis established for all the 20 exons of the RET proto-oncogene, and previously used to screen for point mutations in Hirschsprung patients allowed us to identify seven additional mutations among 39 sporadic and familial cases of Hirschsprung disease (detection rate 18%).", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 107, "end": 125}], "disease": [{"text": "Hirschsprung disease", "start": 292, "end": 312}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 107, "end": 125}, "tail": {"text": "Hirschsprung disease", "start": 292, "end": 312}}]}}, "schema": []}
{"input": "Because oxidative stress inhibits the LKB1/AMPK signaling axis to promote abnormal cell growth in cancer cells, we investigated whether oxidative stress associated with hypertension also results in the inhibition of this kinase circuit to contribute to left ventricular hypertrophy.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 38, "end": 42}], "disease": [{"text": "hypertension", "start": 169, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LKB1", "start": 38, "end": 42}, "tail": {"text": "hypertension", "start": 169, "end": 181}}]}}, "schema": []}
{"input": "SCF significantly reduced the induced apoptosis by more than 50% in all CD34 + human leukemia cells treated by any of the three chemotherapeutic drugs.", "output": {"entities": {"gene": [{"text": "SCF", "start": 0, "end": 3}], "disease": [{"text": "leukemia", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "A potential role of PCP-2 in cell-cell recognition and adhesion is supported by its co-localization with cell adhesion molecules, such as catenin and E-cadherin, at sites of cell-cell contact.", "output": {"entities": {"gene": [{"text": "PCP-2", "start": 20, "end": 25}], "disease": [{"text": "adhesion", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "None of 20 non-neoplastic cervices showed p16 INK4A and MGMT gene hypermethylation, whereas at least one of these genes was hypermethylated with 50. 0% (5/10) of CIN I, 65. 0% (13/20) of CIN II-III, 70. 2% (33/47) of SCC and 85. 0% (17/20) of adenocarcinoma.", "output": {"entities": {"gene": [{"text": "MGMT gene", "start": 56, "end": 65}], "disease": [{"text": "non-neoplastic", "start": 11, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have suggested that one or more of the neuroblastoma tumor suppressor genes reside in this region and have identified the shortest region of overlap (SRO) on 1p36.", "output": {"entities": {"gene": [{"text": "SRO", "start": 165, "end": 168}], "disease": [{"text": "neuroblastoma", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Differential expression of pentraxin 3 in fibroblasts from patients with major depression.", "output": {"entities": {"gene": [{"text": "pentraxin 3", "start": 27, "end": 38}], "disease": [{"text": "major depression", "start": 73, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pentraxin 3", "start": 27, "end": 38}, "tail": {"text": "major depression", "start": 73, "end": 89}}]}}, "schema": []}
{"input": "Over-expression of Trim16 by plasmid injection increased pulmonary fibrosis, and bronchoalveolar lavage levels of both interleukin 12/23-p40 and neutrophils, in bleomycin treated B6. C3H-Blmpf2 subcongenic mice compared to subcongenic mice treated with bleomycin only, which follows the C57BL/6J versus C3H/HeJ strain difference in these traits.", "output": {"entities": {"gene": [{"text": "p40", "start": 137, "end": 140}], "disease": [{"text": "pulmonary fibrosis", "start": 57, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The 3 recognized subtypes include MEN 2A, characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (pheo), and hyperparathyroidism (HPT); MEN 2B, by MTC, pheo, and characteristic stigmata; and familial MTC (FMTC), by the presence of MTC only.", "output": {"entities": {"gene": [{"text": "HPT", "start": 144, "end": 147}], "disease": [{"text": "medullary thyroid carcinoma", "start": 59, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We report here a 14 bp deletion in the paired domain encoded by exon 2 of HuP2 in an Indonesian family segregating for WS1.", "output": {"entities": {"gene": [{"text": "HuP2", "start": 74, "end": 78}], "disease": [{"text": "WS1", "start": 119, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HuP2", "start": 74, "end": 78}, "tail": {"text": "WS1", "start": 119, "end": 122}}]}}, "schema": []}
{"input": "The increase in pulmonary arterial pressure (PAP), PVR, RVM, and pulmonary vascular remodeling in response to chronic hypoxia was attenuated in animals overexpressing prepro-CGRP, whereas systemic pressure was not altered while in chronically hypoxic mice, angiotensin II and endothelin-1-induced increases in PAP were reduced, whereas decreases in PAP in response to CGRP and adrenomedullin were not changed and decreases in PAP in response to a cAMP phosphodiesterase inhibitor were enhanced by AdRSVCGRP.", "output": {"entities": {"gene": [{"text": "PAP", "start": 45, "end": 48}], "disease": [{"text": "vascular remodeling", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The FISH results were compared with the results of cytogenetic and RT-PCR analyses in 75 patients with leukemia or other myeloproliferative syndromes (chronic myeloid leukemia, 30; acute lymphoblastic leukemia, 24; acute myelogenous leukemia, 6; essential (hemorrhagic) thrombocythemia, 12; chronic myelomonocytic leukemia, 2; and polycythemia vera, 1).", "output": {"entities": {"gene": [{"text": "FISH", "start": 4, "end": 8}], "disease": [{"text": "leukemia", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Genotype-phenotype analysis implies that phenotypic severity of AEXS is primarily determined by the expression pattern of CYP19A1 and the chimeric genes and by the structural property of the fused exons with a promoter function (i. e., the presence or the absence of a natural translation start codon).", "output": {"entities": {"gene": [{"text": "CYP19A1", "start": 122, "end": 129}], "disease": [{"text": "AEXS", "start": 64, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP19A1", "start": 122, "end": 129}, "tail": {"text": "AEXS", "start": 64, "end": 68}}]}}, "schema": []}
{"input": "The high-mobility group A1 gene up-regulates cyclooxygenase 2 expression in uterine tumorigenesis.", "output": {"entities": {"gene": [{"text": "cyclooxygenase 2", "start": 45, "end": 61}], "disease": [{"text": "tumorigenesis", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We found a novel GJA1 mutation (W25C) as the possible causative gene in this sporadic ODDD patient with neurological features of motor deficits by pyramidal tract signs, and sensory deficits due to peripheral nerve disturbance.", "output": {"entities": {"gene": [{"text": "GJA1", "start": 17, "end": 21}], "disease": [{"text": "sporadic", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 33, "end": 38}], "disease": [{"text": "Beare-Stevenson cutis gyrata syndrome", "start": 56, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 33, "end": 38}, "tail": {"text": "Beare-Stevenson cutis gyrata syndrome", "start": 56, "end": 93}}]}}, "schema": []}
{"input": "We conclude that DAF and C3 mRNAs are synthesized in human diseased kidneys, and that a balance between locally synthesized DAF and C3 may be important in the progression of glomerulonephritis.", "output": {"entities": {"gene": [{"text": "DAF", "start": 17, "end": 20}], "disease": [{"text": "glomerulonephritis", "start": 174, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The expression of each of these mRNAs was lower in the gray matter of the subjects with schizophrenia compared to the control subjects, although only the reductions in Cdc42 and Duo remained significant after corrections for multiple comparisons.", "output": {"entities": {"gene": [{"text": "Cdc42", "start": 168, "end": 173}], "disease": [{"text": "schizophrenia", "start": 88, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cdc42", "start": 168, "end": 173}, "tail": {"text": "schizophrenia", "start": 88, "end": 101}}]}}, "schema": []}
{"input": "We present here a case of Follicular Lymphoma with leukemic presentation and a complex translocation involving the IgH, BCL2 and BCL6 loci.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 120, "end": 124}], "disease": [{"text": "translocation", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Changed expression of brain CMKLR1 is suggested to be involved in the mechanism of depression.", "output": {"entities": {"gene": [{"text": "CMKLR1", "start": 28, "end": 34}], "disease": [{"text": "depression", "start": 83, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CMKLR1", "start": 28, "end": 34}, "tail": {"text": "depression", "start": 83, "end": 93}}]}}, "schema": []}
{"input": "Stargardt disease-3 (STGD3) is an autosomal dominant juvenile-onset macular dystrophy characterized by progressive decreasing visual acuity, bilateral atrophic changes in the macula and absence of characteristic dark choroids.", "output": {"entities": {"gene": [{"text": "Stargardt disease", "start": 0, "end": 17}], "disease": [{"text": "atrophic", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We identified 2 previously described PAPA syndrome-associated PSTPIP1 mutations, A230T and E250Q, and a novel change, E250K.", "output": {"entities": {"gene": [{"text": "PSTPIP1", "start": 62, "end": 69}], "disease": [{"text": "PAPA syndrome", "start": 37, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PSTPIP1", "start": 62, "end": 69}, "tail": {"text": "PAPA syndrome", "start": 37, "end": 50}}]}}, "schema": []}
{"input": "However, this does not explain how MTMR2 mutants specifically produce demyelination in the peripheral nerve.", "output": {"entities": {"gene": [{"text": "MTMR2", "start": 35, "end": 40}], "disease": [{"text": "demyelination", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In AD mice deficient for TREM2, the CD45 (hi) Ly6C (+) macrophages are virtually eliminated, resulting in reduced inflammation and ameliorated amyloid and tau pathologies.", "output": {"entities": {"gene": [{"text": "CD45", "start": 36, "end": 40}], "disease": [{"text": "inflammation", "start": 114, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The BDNF val66met polymorphism was independently associated with prevalent PSD, but not with persistent and incident PSD nor with depressive symptoms severity.", "output": {"entities": {"gene": [{"text": "PSD", "start": 75, "end": 78}], "disease": [{"text": "depressive symptoms", "start": 130, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the mRNA expressions of Sonic hedgehog (SHH), Indian hedgehog (IHH), Patched, Smoothened, and Gli1 were examined in four cultured colon cancer cell lines by reverse transcription-PCR.", "output": {"entities": {"gene": [{"text": "SHH", "start": 62, "end": 65}], "disease": [{"text": "colon cancer", "start": 152, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of p53 in p53 wild-type U87 glioma cells displayed microtubule misalignment, multiple centrosomes, and mitotic catastrophe cell death.", "output": {"entities": {"gene": [{"text": "U87", "start": 34, "end": 37}], "disease": [{"text": "glioma", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We now show a second function for DRA relevant to colon tumorigenesis, i. e., growth suppression.", "output": {"entities": {"gene": [{"text": "DRA", "start": 34, "end": 37}], "disease": [{"text": "tumorigenesis", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, our data demonstrate that the migration profile of frataxin depends on the experimental conditions, a behavior which most likely contributed to the confusion concerning the endogenous mature frataxin.", "output": {"entities": {"gene": [{"text": "frataxin", "start": 64, "end": 72}], "disease": [{"text": "confusion", "start": 161, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Light and electron microscopic immunohistochemistry revealed a translocation of insulin receptor from the plasma membrane (normal tissue) into the cytoplasm in clear-cell FAHs and an increase in insulin receptor expression in HCAs and HCCs.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 80, "end": 96}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Thus, we have attempted to create a gradient, starting at the left with the most severely affected MECP2-deviant subgroups, represented by boys who are diseased in the intrauterine phase or as neonates, and at the right, the most mildly affected subgroup, female asymptomatic carriers.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 99, "end": 104}], "disease": [{"text": "asymptomatic", "start": 263, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "A siRNA CD44 cell clone xenografted in nude mice generated tumors with a reduced tumor volume and wet weight, as compared to control vector clone.", "output": {"entities": {"gene": [{"text": "CD44", "start": 8, "end": 12}], "disease": [{"text": "weight", "start": 102, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "], fragile X and CF simultaneously, and two disorders for which PGD had not been previously attempted, namely neurofibromatosis type 2 (NF2) and Crouzon syndrome.", "output": {"entities": {"gene": [{"text": "PGD", "start": 64, "end": 67}], "disease": [{"text": "neurofibromatosis type 2", "start": 110, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In our study population hepatic TRIB3 mRNA expression was associated with surrogate markers of insulin resistance.", "output": {"entities": {"gene": [{"text": "TRIB3", "start": 32, "end": 37}], "disease": [{"text": "insulin resistance", "start": 95, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRIB3", "start": 32, "end": 37}, "tail": {"text": "insulin resistance", "start": 95, "end": 113}}]}}, "schema": []}
{"input": "We have screened for SGCE mutations in index cases from 76 French patients with myoclonic syndromes, including myoclonus dystonia (M-D), essential myoclonus (E-M), primary myoclonic dystonia, generalised dystonia, dystonia with tremor, and benign hereditary chorea.", "output": {"entities": {"gene": [{"text": "SGCE", "start": 21, "end": 25}], "disease": [{"text": "generalised dystonia", "start": 192, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Information for each participant was reviewed by an adjudication panel and a diagnosis of normal cognition, MCI, or dementia was made using published criteria.", "output": {"entities": {"gene": [{"text": "MCI", "start": 108, "end": 111}], "disease": [{"text": "normal cognition", "start": 90, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Synergistic interactions between interferon-gamma and TRAIL modulate c-FLIP in endothelial cells, mediating their lineage-specific sensitivity to thrombotic thrombocytopenic purpura plasma-associated apoptosis.", "output": {"entities": {"gene": [{"text": "FLIP", "start": 71, "end": 75}], "disease": [{"text": "thrombocytopenic purpura", "start": 157, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Kaempferol regulates OPN-CD44 pathway to inhibit the atherogenesis of apolipoprotein E deficient mice.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 70, "end": 86}], "disease": [{"text": "atherogenesis", "start": 53, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "apolipoprotein E", "start": 70, "end": 86}, "tail": {"text": "atherogenesis", "start": 53, "end": 66}}]}}, "schema": []}
{"input": "PTEN expression induced decreased Sp1 DNA binding by dephosphorylating Sp1 and interfered with transcriptional transactivation of IGF-II by HBx in hepatoma cells.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 34, "end": 37}], "disease": [{"text": "hepatoma", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "RNA from MDA-MB-435 human breast cancer cells transduced with RARbeta2 or empty retroviral vector (LXSN) was analyzed using Agilent Human 1A Oligo microarrays.", "output": {"entities": {"gene": [{"text": "RARbeta2", "start": 62, "end": 70}], "disease": [{"text": "breast cancer", "start": 26, "end": 39}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "RARbeta2", "start": 62, "end": 70}, "tail": {"text": "breast cancer", "start": 26, "end": 39}}]}}, "schema": []}
{"input": "The mRNA levels of the long form of the leptin receptor in adipose tissue were not correlated to body weight, fasting plasma insulin, plasma glucose, or plasma leptin levels.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 40, "end": 55}], "disease": [{"text": "body weight", "start": 97, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that down-regulation of DCBLD2, often associated with promoter hypermethylation, is a frequent event that may be related to the development of gastric cancer.", "output": {"entities": {"gene": [{"text": "DCBLD2", "start": 43, "end": 49}], "disease": [{"text": "gastric cancer", "start": 162, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DCBLD2", "start": 43, "end": 49}, "tail": {"text": "gastric cancer", "start": 162, "end": 176}}]}}, "schema": []}
{"input": "Our findings support the concept that dysregulated eIF2α phosphorylation, whether decreased by mutation of the kinase (EIF2AK3) in Wolcott-Rallison syndrome or increased by mutation of the phosphatase (PPP1R15B), is deleterious to β-cells and other secretory tissues, resulting in diabetes associated with multisystem abnormalities.", "output": {"entities": {"gene": [{"text": "EIF2AK3", "start": 119, "end": 126}], "disease": [{"text": "abnormalities", "start": 318, "end": 331}]}, "relations": {}}, "schema": []}
{"input": "Involvement of HGF and its receptor (c-met) is evident in animal models of acute lung injury produced by hydrochloride inhalation.", "output": {"entities": {"gene": [{"text": "HGF", "start": 15, "end": 18}], "disease": [{"text": "inhalation", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In this study we describe a novel point mutation in exon 15 of the NF2 gene, which is found in lymphocyte DNA of two NF2 patients from one family.", "output": {"entities": {"gene": [{"text": "NF2", "start": 67, "end": 70}], "disease": [{"text": "NF2", "start": 117, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF2", "start": 67, "end": 70}, "tail": {"text": "NF2", "start": 117, "end": 120}}]}}, "schema": []}
{"input": "For BM, LGD, HGD, and EAC, respectively, the average numbers of chromosome arms with loss per sample were 0. 30, 3. 21, 7. 70, and 11. 90 (P for trend = 4. 82 x 10 (-7)), and the mean percentages of single nucleotide polymorphisms with allele loss were 0. 1%, 1. 8%, 6. 6%, and 17. 2% (P for trend = 2. 64 x 10 (-6)).", "output": {"entities": {"gene": [{"text": "HGD", "start": 13, "end": 16}], "disease": [{"text": "arms", "start": 75, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "To better understand sialoglycan functions in the nervous system, we studied brain anatomy, histology, biochemistry, and behavior in mice with engineered mutations in St3gal2 and St3gal3, sialyltransferase genes responsible for terminal sialylation of gangliosides and some glycoproteins.", "output": {"entities": {"gene": [{"text": "St3gal2", "start": 167, "end": 174}], "disease": [{"text": "nervous system", "start": 50, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Genomic instabilities (GI), illustrated by a higher GI Index (GII), microsatellite instability (MSI), loss of heterozygosity (LOH) and defects in mismatch repair (MMR) systems, are also expressed.", "output": {"entities": {"gene": [{"text": "MMR", "start": 163, "end": 166}], "disease": [{"text": "microsatellite instability", "start": 68, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Recently, two fusion genes were described in mesenchymal chondrosarcomas: a recurrent HEY1-NCOA2 found in tumors that had not been cytogenetically characterized and an IRF2BP2-CDX1 found in a tumor carrying a t (1; 5) (q42; q32) translocation as the sole chromosomal abnormality.", "output": {"entities": {"gene": [{"text": "IRF2BP2", "start": 168, "end": 175}], "disease": [{"text": "translocation", "start": 229, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Although the symptoms of myasthenia gravis (MG) and experimental MG (EAMG) are caused by autoantibodies, CD4 (+) T cells specific for the target antigen, the nicotinic acetylcholine receptor, and the cytokines they secrete, have an important role in these diseases.", "output": {"entities": {"gene": [{"text": "CD4", "start": 105, "end": 108}], "disease": [{"text": "myasthenia gravis", "start": 25, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "This study was aimed to validate whether the polymorphisms in the GABRP gene are associated with the susceptibility to systematic lupus erythematosus (SLE).", "output": {"entities": {"gene": [{"text": "GABRP gene", "start": 66, "end": 76}], "disease": [{"text": "lupus erythematosus", "start": 130, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Here we identify mutations in the genes encoding PLK4 kinase, a master regulator of centriole duplication, and its substrate TUBGCP6 in individuals with microcephalic primordial dwarfism and additional congenital anomalies, including retinopathy, thereby extending the human phenotypic spectrum associated with centriole dysfunction.", "output": {"entities": {"gene": [{"text": "PLK4", "start": 49, "end": 53}], "disease": [{"text": "microcephalic primordial dwarfism", "start": 153, "end": 186}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLK4", "start": 49, "end": 53}, "tail": {"text": "microcephalic primordial dwarfism", "start": 153, "end": 186}}]}}, "schema": []}
{"input": "As Taspase1 was shown to cleave MLL which forms complexes with E2F transcription factors to regulate Cyclins E, A, and B expression in mouse embryonic fibroblasts (MEFs), we investigated whether the cleavage of MLL by Taspase1 constitutes an essential in vivo axis for HER2/neu-induced mammary tumorigenesis.", "output": {"entities": {"gene": [{"text": "MLL", "start": 32, "end": 35}], "disease": [{"text": "mammary tumorigenesis", "start": 286, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "Two siblings, a 10-year-old boy and a 32-year-old woman, born from consanguineous parents, presented with central vision loss and macular pigmentary atrophic changes suggestive of Stargardt disease.", "output": {"entities": {"gene": [{"text": "Stargardt disease", "start": 180, "end": 197}], "disease": [{"text": "atrophic", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In this study we assessed if targeting phosphatase and tensin homologue (PTEN) deletion to airway basal cells could initiate lung tumor formation or increase lung SCC formation.", "output": {"entities": {"gene": [{"text": "tensin", "start": 55, "end": 61}], "disease": [{"text": "lung tumor", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In this study, we sequenced SOD1, FUS and TARDBP in a central-southern Chinese cohort of 173 patients with ALS (15 familial ALS and 158 sporadic ALS) to detect mutations.", "output": {"entities": {"gene": [{"text": "FUS", "start": 34, "end": 37}], "disease": [{"text": "sporadic", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In this cross-sectional study we compared the central aortic systolic pressure (CASP), peripheral brachial systolic pressure (PSP), peripheral brachial diastolic pressure (PDP) and augmentation index (AIx) between normotensive offspring of nonhypertensive parents (ONT) and normotensive offspring with at least one hypertensive parent (OHT).", "output": {"entities": {"gene": [{"text": "PDP", "start": 172, "end": 175}], "disease": [{"text": "diastolic pressure", "start": 152, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "When combined pituitary hormone deficiency includes hypogonadotropic hypogonadism as a feature, PROP1 mutations are the most common of the six genes involved.", "output": {"entities": {"gene": [{"text": "PROP1", "start": 96, "end": 101}], "disease": [{"text": "pituitary hormone deficiency", "start": 14, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "To further explore the role of iASPP-SV in glioma, U87 cells were transfected with iASPP-SV by lentivirus and then treated with temozolomide (TMZ).", "output": {"entities": {"gene": [{"text": "U87", "start": 51, "end": 54}], "disease": [{"text": "glioma", "start": 43, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In addition, the intranasal exposure of CSE simultaneously with OVA induced OVA-specific T (H) 2-type immune responses and airway inflammation, which were inhibited by the blockade of the TSLP activity.", "output": {"entities": {"gene": [{"text": "CSE", "start": 40, "end": 43}], "disease": [{"text": "inflammation", "start": 130, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "1, 25 (OH) 2D3 also induced amphiregulin mRNA in estrogen receptor-positive and-negative human breast cancer cell lines, but not in LNCaP human prostate cancer cells.", "output": {"entities": {"gene": [{"text": "amphiregulin", "start": 28, "end": 40}], "disease": [{"text": "breast cancer", "start": 95, "end": 108}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "amphiregulin", "start": 28, "end": 40}, "tail": {"text": "breast cancer", "start": 95, "end": 108}}]}}, "schema": []}
{"input": "Hypoxic culture alone also stimulated VEGF secretion, but more importantly, hypoxic culture conditions doubled the rate of VEGF secretion stimulated by the cytokines TGF-beta and IL-1.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 38, "end": 42}], "disease": [{"text": "hypoxic", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We examined patterns of microsatellite instability (MSI) and MMR genes among patients < 50 years old with non-familial CRC (patients with not more than 1 family member with CRC).", "output": {"entities": {"gene": [{"text": "MMR", "start": 61, "end": 64}], "disease": [{"text": "microsatellite instability", "start": 24, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "DRA expression does not appear to be strictly associated with colonic cell differentiation; rather, its absence and down-regulation were associated with the proliferating component of the crypt epithelium and with neoplastic transformation, respectively.", "output": {"entities": {"gene": [{"text": "DRA", "start": 0, "end": 3}], "disease": [{"text": "neoplastic transformation", "start": 214, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "From microarray analysis, an empirically-derived HNF1B signature was significantly enriched for computationally-predicted targets (with HNF1 binding sites) (P < 0. 03), as well as genes associated with glycogen metabolism, including glucose-6-phophatase, and strikingly the blood clotting cascade, including fibrinogen, prothrombin and factor XIII.", "output": {"entities": {"gene": [{"text": "HNF1", "start": 49, "end": 53}], "disease": [{"text": "fibrinogen", "start": 308, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "Multivariate analyses were used to assess the potential mediating role of NS personality traits in the association between COMT gene variants and the age of onset of heroin use.", "output": {"entities": {"gene": [{"text": "COMT gene", "start": 123, "end": 132}], "disease": [{"text": "personality traits", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "EML4-ALK fusion gene examinations could be more effectively performed by selecting young NSCLC patients without EGFR mutations, whereas selection on the basis of a non-smoking or adenocarcinoma history, as reported in previous studies, may not correctly identify the patient groups with potential EML4-ALK fusion gene.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 112, "end": 116}], "disease": [{"text": "smoking", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The significant prevalence of carriage of PLA2 in GP IIb/IIIa in women with RSA in first 20 wg was found with high risk or miscarriage (OR = 4. 32; 95% CI: 2. 10-8. 97, p < 0. 0001).", "output": {"entities": {"gene": [{"text": "PLA2", "start": 42, "end": 46}], "disease": [{"text": "miscarriage", "start": 123, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "All rats injected with alpha 3 (IV) NC1 and alpha 4 (IV) NC1 developed proteinuria and hematuria.", "output": {"entities": {"gene": [{"text": "alpha 4", "start": 44, "end": 51}], "disease": [{"text": "hematuria", "start": 87, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We indeed found that enforced expression of miR-199a-5p led to down-modulated expression of HIF-1α as well as of other pro-angiogenic factors such as VEGF-A, IL-8, and FGFb in hypoxic MM cells in vitro.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 150, "end": 156}], "disease": [{"text": "hypoxic", "start": 176, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.", "output": {"entities": {"gene": [{"text": "stratifin", "start": 41, "end": 50}], "disease": [{"text": "HCC", "start": 333, "end": 336}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "stratifin", "start": 41, "end": 50}, "tail": {"text": "HCC", "start": 333, "end": 336}}]}}, "schema": []}
{"input": "In paraneoplastic pemphigus (PNP), a rare variant associated with neoplasia, autoantibodies target proteins of the plakin family in addition to desmogleins 1 and 3.", "output": {"entities": {"gene": [{"text": "PNP", "start": 29, "end": 32}], "disease": [{"text": "paraneoplastic pemphigus", "start": 3, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.", "output": {"entities": {"gene": [{"text": "tissue non-specific alkaline phosphatase", "start": 13, "end": 53}], "disease": [{"text": "seizures", "start": 63, "end": 71}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "tissue non-specific alkaline phosphatase", "start": 13, "end": 53}, "tail": {"text": "seizures", "start": 63, "end": 71}}]}}, "schema": []}
{"input": "The main aim of this work was to investigate cGMP and PKG signaling in pancreatic adenocarcinoma (PDAC) cells.", "output": {"entities": {"gene": [{"text": "PKG", "start": 54, "end": 57}], "disease": [{"text": "pancreatic adenocarcinoma", "start": 71, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, silencing ASC in primary melanoma reduced cell death, increased cell viability, and enhanced tumorigenesis.", "output": {"entities": {"gene": [{"text": "ASC", "start": 29, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "To identify novel CRC loci, we conducted a genome-wide linkage scan in 356 white families with no evidence of defective MMR (i. e., no loss of tumor expression of MMR proteins, no microsatellite instability (MSI)-high tumors, or no evidence of linkage to MMR genes).", "output": {"entities": {"gene": [{"text": "MMR", "start": 120, "end": 123}], "disease": [{"text": "microsatellite instability", "start": 180, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the CACNA1A calcium channel subunit gene on chromosome 19 are associated with a wide spectrum of mutation-specific episodic and chronic neurological disorders, including FHM with or without coma.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 17, "end": 24}], "disease": [{"text": "FHM", "start": 183, "end": 186}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 17, "end": 24}, "tail": {"text": "FHM", "start": 183, "end": 186}}]}}, "schema": []}
{"input": "To investigate the effects of Notch2 knockdown on U87 human glioma cell proliferation in vitro and in vivo, and the associated mechanisms, U87 cells were stably transfected with p green fluorescent protein (GFP)‑V‑RS Notch2 short hairpin (sh) RNA plasmid and pGFP‑V‑RS scramble‑shRNA plasmid.", "output": {"entities": {"gene": [{"text": "U87", "start": 50, "end": 53}], "disease": [{"text": "glioma", "start": 60, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We used adenovirus-mediated PON1 gene transfer (AdPON1) to overexpress human PON1 in mice with combined leptin and LDL receptor deficiency, a model of metabolic syndrome.", "output": {"entities": {"gene": [{"text": "PON1", "start": 28, "end": 32}], "disease": [{"text": "adenovirus", "start": 8, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Currently, transgenic mice expressing wild-type or disease-causing mutants of LRRK2 have failed to produce overt neurodegeneration, although abnormalities in nigrostriatal dopaminergic neurotransmission have been observed.", "output": {"entities": {"gene": [{"text": "LRRK2", "start": 78, "end": 83}], "disease": [{"text": "abnormalities", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains.", "output": {"entities": {"gene": [{"text": "ATTR", "start": 52, "end": 56}], "disease": [{"text": "transthyretin amyloidosis", "start": 25, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATTR", "start": 52, "end": 56}, "tail": {"text": "transthyretin amyloidosis", "start": 25, "end": 50}}]}}, "schema": []}
{"input": "This report is the first description of how a second hit to the APC gene can be involved in carcinogenesis of the jejunum in familial adenomatous polyposis.", "output": {"entities": {"gene": [{"text": "APC gene", "start": 64, "end": 72}], "disease": [{"text": "hit", "start": 53, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In addition, certain haplotypes within the ANKRD7 and cytokine-like1 (CYTL1) genes were significantly associated with regular drinking behavior, such as one ANKRD7 block composed of the SNPs rs6466686-rs4295599-rs12531086 (P = 6. 51 × 10 (-8)).", "output": {"entities": {"gene": [{"text": "ANKRD7", "start": 43, "end": 49}], "disease": [{"text": "drinking behavior", "start": 126, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We genotyped FTO rs9939609 in 737 overweight adults in the 2-y Preventing Overweight Using Novel Dietary Strategies trial and assessed 4 appetite-related traits including cravings, fullness, hunger, and prospective consumption.", "output": {"entities": {"gene": [{"text": "FTO", "start": 13, "end": 16}], "disease": [{"text": "overweight", "start": 34, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "To further elucidate the biochemical structure and significance of epiregulin expression in tumorigenesis, HKe3-stable transfectants expressing epiregulin (e3-pSE cells) were established.", "output": {"entities": {"gene": [{"text": "epiregulin", "start": 67, "end": 77}], "disease": [{"text": "tumorigenesis", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "To evaluate whether further studies on the role of DRA in tumorigenesis are still of interest, we examined whether individuals carrying germline DRA mutations have an excess of intestinal cancer.", "output": {"entities": {"gene": [{"text": "DRA", "start": 51, "end": 54}], "disease": [{"text": "tumorigenesis", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to determine how the chromosomal breaks involved in these events relate physically to the MYC gene; whether they map to the FRA8C site, the FRA8D site, or both; and how they correlate with the occurrence of DNA flexibility domains.", "output": {"entities": {"gene": [{"text": "FRA8C", "start": 136, "end": 141}], "disease": [{"text": "chromosomal breaks", "start": 33, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In addition, IL-17E induces G-CSF production in vitro and mIL-17E-transgenic mice had increased serum G-CSF and exhibit neutrophilia, a property shared by IL-17.", "output": {"entities": {"gene": [{"text": "IL-17E", "start": 13, "end": 19}], "disease": [{"text": "neutrophilia", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "A cross-talk between hypoxia and TGF-beta orchestrates erythropoietin gene regulation through SP1 and Smads.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 33, "end": 41}], "disease": [{"text": "hypoxia", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "In the present work, the main purpose was to investigate perforin and granzyme B expression in liver biopsies of patients with chronic hepatitis (10 HBV, 14 HCV and 10 autoimmune hepatitis) using immunohistochemistry.", "output": {"entities": {"gene": [{"text": "granzyme B", "start": 70, "end": 80}], "disease": [{"text": "autoimmune hepatitis", "start": 168, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, Pim1 overexpression, in combination with the hormone treatment, increased inflammation surrounding target tissues leading to pyelonephritis in transgenic animals.", "output": {"entities": {"gene": [{"text": "Pim1", "start": 13, "end": 17}], "disease": [{"text": "pyelonephritis", "start": 138, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Megakaryocytes from essential thrombocythemia (ET) showed significantly lower levels of mutated JAK2 alleles compared to patients with chronic idiopathic myelofibrosis (cIMF) with manifest fibrosis and polycythemia vera (PV) but not to prefibrotic cIMF.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 96, "end": 100}], "disease": [{"text": "fibrosis", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we examined the association between the-1021C/T DBH polymorphism and personality traits in 627 Japanese healthy volunteers.", "output": {"entities": {"gene": [{"text": "DBH", "start": 59, "end": 62}], "disease": [{"text": "personality traits", "start": 80, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "To this end, we developed a Galleria mellonella larvae (wax worm) model of invasive GAS infection and used it to compare the virulence of serotype M3 GAS strains.", "output": {"entities": {"gene": [{"text": "GAS", "start": 84, "end": 87}], "disease": [{"text": "worm", "start": 60, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Most cases of CblC disease have a multisystemic disease with failure to thrive, developmental delay, hypotonia, visual impairment, and hematologic manifestations.", "output": {"entities": {"gene": [{"text": "CblC", "start": 14, "end": 18}], "disease": [{"text": "developmental delay", "start": 80, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show that mRNA levels of enzymes involved in biotin utilization, including HCS, are down-regulated during biotin deficiency in liver while remaining constitutively expressed in brain.", "output": {"entities": {"gene": [{"text": "HCS", "start": 93, "end": 96}], "disease": [{"text": "biotin deficiency", "start": 124, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Since PPARα activation impairs post-ischemic cardiac function in experimental models of DM, we tested whether decreased PPARA transcription in PPARA A carriers favorably impacted outcome after acute coronary ischemia in 705 patients hospitalized with acute coronary syndromes (ACS; 552 Caucasian, 106 African American).", "output": {"entities": {"gene": [{"text": "PPARA", "start": 120, "end": 125}], "disease": [{"text": "ischemia", "start": 208, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "In this study histopathological and histochemical attributes for basement membrane and connective tissue in biopsies of oral sub-mucous fibrosis (n = 55) and normal oral mucosa (n = 16) were assessed and expressions of p63, E-cadherin, β-catenin, N-cadherin and TWIST were analyzed immunohistochemically.", "output": {"entities": {"gene": [{"text": "N-cadherin", "start": 247, "end": 257}], "disease": [{"text": "fibrosis", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of a number of NF1-specific tumors has shown the inactivation of both NF1 alleles during tumorigenesis, supporting the tumor suppressor hypothesis for the NF1 gene.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 174, "end": 182}], "disease": [{"text": "tumorigenesis", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Our data showed that the epithelial cell markers E-cadherin, epithelial membrane antigen, cytokeratin AE1/AE3, and pan-cytokeratin were often detected immunohistochemically in leiomyosarcoma tumor cells on tissue microarray.", "output": {"entities": {"gene": [{"text": "epithelial membrane antigen", "start": 61, "end": 88}], "disease": [{"text": "leiomyosarcoma", "start": 176, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Here we report the characterization of mutations in the btk gene of five unrelated XLA families.", "output": {"entities": {"gene": [{"text": "btk", "start": 56, "end": 59}], "disease": [{"text": "XLA", "start": 83, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "btk", "start": 56, "end": 59}, "tail": {"text": "XLA", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "The most striking finding was the marked reduction of protein gene product 9. 5, synaptophysin and nerve growth factor receptor staining positive nerve fibers in the muscle layers of ureteropelvic junction obstruction compared to the normal ureteropelvic junction.", "output": {"entities": {"gene": [{"text": "nerve growth factor receptor", "start": 99, "end": 127}], "disease": [{"text": "ureteropelvic junction obstruction", "start": 183, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "We assume that the LCNEC originated from the adenocarcinoma based on the fact that the patient was a non-smoking female, the tumor was located in the periphery, the tumor had a BAC component, and the same EGFR mutation was found in both the LCNEC and adenocarcinoma components.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 205, "end": 209}], "disease": [{"text": "smoking", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We conclude that CT-1 is a master regulator of fat and glucose metabolism with potential applications for treatment of obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "CT-1", "start": 17, "end": 21}], "disease": [{"text": "insulin resistance", "start": 131, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CT-1", "start": 17, "end": 21}, "tail": {"text": "insulin resistance", "start": 131, "end": 149}}]}}, "schema": []}
{"input": "Two hours after the alteplase application, the thrombus was not detectable.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 20, "end": 29}], "disease": [{"text": "thrombus", "start": 47, "end": 55}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "alteplase", "start": 20, "end": 29}, "tail": {"text": "thrombus", "start": 47, "end": 55}}]}}, "schema": []}
{"input": "We combined the previously described Notch1 intramembrane proteolysis-Cre (Nip1:: Cre) allele with a floxed Notch1 allele to create a mouse model for sporadic, low-frequency loss of Notch1 heterozygosity.", "output": {"entities": {"gene": [{"text": "Notch1", "start": 37, "end": 43}], "disease": [{"text": "sporadic", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Resuscitated shock primed the lungs for an increased tissue factor and plasminogen activator (PA) inhibitor-1 gene expression in response to LPS, while the fibrinolytic PA was reduced.", "output": {"entities": {"gene": [{"text": "tissue factor", "start": 53, "end": 66}], "disease": [{"text": "shock", "start": 13, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Transgenic mice expressing alpha (2A)-adrenoceptors under control of the dopamine beta-hydroxylase (Dbh) promoter were generated and crossed with mice carrying a constitutive deletion in the alpha (2A)-and alpha (2C)-adrenoceptor genes. alpha (2AC)-deficient mice showed increased norepinephrine plasma levels, cardiac hypertrophy, and fibrosis at baseline.", "output": {"entities": {"gene": [{"text": "alpha (2C)-adrenoceptor", "start": 206, "end": 229}], "disease": [{"text": "fibrosis", "start": 336, "end": 344}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha (2C)-adrenoceptor", "start": 206, "end": 229}, "tail": {"text": "fibrosis", "start": 336, "end": 344}}]}}, "schema": []}
{"input": "This is the first report on the molecular mechanism of combined treatment of human neuroblastoma UKF-NB-3 and UKF-NB-4 cells with these compounds.", "output": {"entities": {"gene": [{"text": "NB-3", "start": 101, "end": 105}], "disease": [{"text": "neuroblastoma", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Results from mismatch-repair immunohistochemistry (MMR-IHC) and microsatellite instability (MSI) phenotype status were documented, and detailed pedigrees were analyzed to determine whether previously proposed clinical criteria would have selected these patients for genetic testing.", "output": {"entities": {"gene": [{"text": "MMR", "start": 51, "end": 54}], "disease": [{"text": "microsatellite instability", "start": 64, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "This new proposed phenotype for AAT transcends classic pattern of strictly liver and lung disease, and should be considered for proper evaluation and management of patients presenting with classic AAT-related disorders, affective disorders, persons with ICE, white matter disease or multisystem disorders of memory.", "output": {"entities": {"gene": [{"text": "ICE", "start": 254, "end": 257}], "disease": [{"text": "lung disease", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We also determined DNA ploidy status (diploid or aneuploid), S-phase fraction (< 6% = low, 6-10% = intermediate, > 10% = high), and telomerase activity (total protein generated by TRAP assay).", "output": {"entities": {"gene": [{"text": "TRAP", "start": 180, "end": 184}], "disease": [{"text": "aneuploid", "start": 49, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "PTEN and p27 were always highly expressed in non-neoplastic lung whereas Cks1 and Skp2 were not expressed in normal tissue.", "output": {"entities": {"gene": [{"text": "Cks1", "start": 73, "end": 77}], "disease": [{"text": "non-neoplastic", "start": 45, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "PTPRS loss promoted EGFR/PI3K pathway activation, modulated resistance to EGFR inhibition, and strongly determined survival in lung cancer patients with activating EGFR mutations.", "output": {"entities": {"gene": [{"text": "PTPRS", "start": 0, "end": 5}], "disease": [{"text": "lung cancer", "start": 127, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In case 1, CMA revealed an approximately 140 kb deletion encompassing the first three exons of MEF2C in a 3-year-old patient with severe psychomotor retardation, periodic tremor, and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features.", "output": {"entities": {"gene": [{"text": "MEF2C", "start": 95, "end": 100}], "disease": [{"text": "tremor", "start": 171, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "We conducted this study to explore forced RECK expression in the highly invasive T98G human GBM cell line.", "output": {"entities": {"gene": [{"text": "RECK", "start": 42, "end": 46}], "disease": [{"text": "GBM", "start": 92, "end": 95}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "RECK", "start": 42, "end": 46}, "tail": {"text": "GBM", "start": 92, "end": 95}}]}}, "schema": []}
{"input": "These results reveal an essential role of MKK7 in cardiomyocytes for protecting the heart from hypertrophic insults thereby preventing the transition to heart failure.", "output": {"entities": {"gene": [{"text": "MKK7", "start": 42, "end": 46}], "disease": [{"text": "heart failure", "start": 153, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MKK7", "start": 42, "end": 46}, "tail": {"text": "heart failure", "start": 153, "end": 166}}]}}, "schema": []}
{"input": "The orphan cotransport protein expressed by the SLC5A8 gene has been shown to play a role in controlling the growth of colon cancers, and the silencing of this gene is a common and early event in human colon neoplasia.", "output": {"entities": {"gene": [{"text": "SLC5A8", "start": 48, "end": 54}], "disease": [{"text": "colon cancers", "start": 119, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC5A8", "start": 48, "end": 54}, "tail": {"text": "colon cancers", "start": 119, "end": 132}}]}}, "schema": []}
{"input": "Tubules within the areas of granuloma showed a six-fold increase in MIF mRNA, compared with uninvolved areas by in situ hybridization.", "output": {"entities": {"gene": [{"text": "MIF", "start": 68, "end": 71}], "disease": [{"text": "granuloma", "start": 28, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "This report provides compelling evidence that the primary mechanism of biliary copper excretion involves ATP7B-mediated vesicular sequestration of copper rather than direct copper translocation across the canalicular membrane.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 105, "end": 110}], "disease": [{"text": "translocation", "start": 180, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Tachykinin receptor 1 variants associated with aggression in suicidal behavior.", "output": {"entities": {"gene": [{"text": "Tachykinin receptor 1", "start": 0, "end": 21}], "disease": [{"text": "aggression", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Both biopsied tissues were negative for microsatellite instability, and expressed MLH1, MSH2, PMS2, MSH6, and MLH3 immunohistochemically.", "output": {"entities": {"gene": [{"text": "MLH3", "start": 110, "end": 114}], "disease": [{"text": "microsatellite instability", "start": 40, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The family study highly suggested that the propositus is the first case of homozygote for type IIC vWD gene, although previous studies have suggested that type IIC vWD is due to double heterozygosity of two different mutant genes.", "output": {"entities": {"gene": [{"text": "vWD", "start": 99, "end": 102}], "disease": [{"text": "vWD", "start": 164, "end": 167}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "vWD", "start": 99, "end": 102}, "tail": {"text": "vWD", "start": 164, "end": 167}}]}}, "schema": []}
{"input": "In addition, small interference RNA (siRNA)-triggered endogenous beta-TrCP1 suppression increased the protein expression level of both overexpressed SMAD4 mutants and endogenous mutated SMAD4 protein in acute myelogenous leukemia cells.", "output": {"entities": {"gene": [{"text": "beta-TrCP1", "start": 65, "end": 75}], "disease": [{"text": "acute myelogenous leukemia", "start": 203, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Gene polymorphism of complement factor H in a Turkish patient with membranoproliferative glomerulonephritis type II.", "output": {"entities": {"gene": [{"text": "complement factor H", "start": 21, "end": 40}], "disease": [{"text": "membranoproliferative glomerulonephritis type II", "start": 67, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "complement factor H", "start": 21, "end": 40}, "tail": {"text": "membranoproliferative glomerulonephritis type II", "start": 67, "end": 115}}]}}, "schema": []}
{"input": "These results demonstrate that early pretreatment administration of a KDR kinase inhibitor elicited an early, transient decrease in edema and subsequent reduction in infarct volume, implicating VEGF as a mediator of stroke-related vascular permeability and ischemic injury.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 194, "end": 198}], "disease": [{"text": "infarct", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "MStF responses were statistically associated with the presence of HLA DR1 antigens in patients with renal failure and two separate groups of healthy individuals, while MIF responses were associated with DR7 in the three groups studied.", "output": {"entities": {"gene": [{"text": "DR1", "start": 70, "end": 73}], "disease": [{"text": "renal failure", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Antibiotics abolished the effect of hPepT1 overexpression on the inflammatory response in DSS-induced colitis in β-actin-hPepT1 and villin-hPepT1 transgenic mice, indicating that commensal bacteria are required to aggravate intestinal inflammation.", "output": {"entities": {"gene": [{"text": "β-actin", "start": 113, "end": 120}], "disease": [{"text": "inflammation", "start": 235, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "The frequency of FVL G1691A and ACE D allele in T2DM patients with microalbuminuria were 1. 6 and 57%, respectively and in normoalbuminuric T2DM patients were 4. 9 and 58. 3%, respectively (P > 0. 05).", "output": {"entities": {"gene": [{"text": "ACE", "start": 32, "end": 35}], "disease": [{"text": "microalbuminuria", "start": 67, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that melusin overexpression allows prolonged concentric compensatory hypertrophy and protects against the transition toward cardiac dilation and failure in response to long-standing pressure overload.", "output": {"entities": {"gene": [{"text": "melusin", "start": 31, "end": 38}], "disease": [{"text": "dilation", "start": 158, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Expression of cyclin H protein, detected by western blotting of hippocampal tissue, was increased after global ischemia, but expression of cyclins B1 and D1 and other related cell cycle genes (Cdk7 and Cdc2) was not increased.", "output": {"entities": {"gene": [{"text": "Cdc2", "start": 202, "end": 206}], "disease": [{"text": "ischemia", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the aim of the present study was to investigate the association between IL-8-251 A/T and CXCR2 + 1208 C/T gene polymorphisms and susceptibility to multiple sclerosis (MS).", "output": {"entities": {"gene": [{"text": "T gene", "start": 115, "end": 121}], "disease": [{"text": "multiple sclerosis", "start": 158, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "In this context, mucin 1 (MUC1) overexpression and hypoxia are frequently observed events.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 26, "end": 30}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "HLJ1 expression inhibited lung cancer cell proliferation, anchorage-independent growth, tumorigenesis, cell motility, and invasion, and slowed cell cycle progression through a novel STAT1/P21 (WAF1) pathway that is independent of P53 and interferon.", "output": {"entities": {"gene": [{"text": "HLJ1", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 96, "end": 101}], "disease": [{"text": "atrophy", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that PAK6 contributes to PCa development and progression after androgen deprivation therapy, and that it may play roles in the regulation of motility and in stress responses.", "output": {"entities": {"gene": [{"text": "PAK6", "start": 28, "end": 32}], "disease": [{"text": "PCa", "start": 48, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAK6", "start": 28, "end": 32}, "tail": {"text": "PCa", "start": 48, "end": 51}}]}}, "schema": []}
{"input": "Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.", "output": {"entities": {"gene": [{"text": "fukutin", "start": 22, "end": 29}], "disease": [{"text": "Fukuyama congenital muscular dystrophy", "start": 62, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fukutin", "start": 22, "end": 29}, "tail": {"text": "Fukuyama congenital muscular dystrophy", "start": 62, "end": 100}}]}}, "schema": []}
{"input": "Evidence for an association between the HTR1B gene and ADHD as a qualitative diagnosis, or the inattentive and hyperactive-impulsive quantitative traits was not supported by either TDT single marker analysis or haplotype analysis.", "output": {"entities": {"gene": [{"text": "TDT", "start": 181, "end": 184}], "disease": [{"text": "inattentive", "start": 95, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Similarly, we found that HMGA1a and COX-2 are overexpressed in human leiomyosarcomas, a highly malignant uterine cancer.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 36, "end": 41}], "disease": [{"text": "leiomyosarcomas", "start": 69, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 36, "end": 41}, "tail": {"text": "leiomyosarcomas", "start": 69, "end": 84}}]}}, "schema": []}
{"input": "To evaluate ApoE alleles in relation to symptoms of depression in a cohort of patients with MS participating in the Sonya Slifka Longitudinal Multiple Sclerosis Study (Slifka Study).", "output": {"entities": {"gene": [{"text": "Multiple Sclerosis", "start": 142, "end": 160}], "disease": [{"text": "symptoms of depression", "start": 40, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Multiple Sclerosis", "start": 142, "end": 160}, "tail": {"text": "symptoms of depression", "start": 40, "end": 62}}]}}, "schema": []}
{"input": "Stress and heat shock proteins such as HSP90, HSP70 and HSP27 are induced in response to a wide variety of physiological environmental insults including heat, reactive oxygen species or anticancer drugs.", "output": {"entities": {"gene": [{"text": "HSP27", "start": 56, "end": 61}], "disease": [{"text": "shock", "start": 16, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "CD4 T cells from 22 subjects treated with FVIII products having sequences at residues FVIII-484, 1241, and 2238 differing from those of putative proteins encoded by their F8 genes did not show high-avidity tetramer binding, whereas positive-control staining of tetanus-specific CD4 T cells was routinely successful.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 42, "end": 47}], "disease": [{"text": "tetanus", "start": 261, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "We concluded that bioactive IL-12 and IL-18 were produced in sarcoid BAL fluid cells and synergistically induced IFN-gamma production, indicating important cytokines in the Th1 response of sarcoidosis.", "output": {"entities": {"gene": [{"text": "Th1", "start": 173, "end": 176}], "disease": [{"text": "sarcoidosis", "start": 189, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "By RT-PCR, AFP and PSA mRNA were detected in several tumors, including salivary pleomorphic adenoma, hilar bile duct carcinoma, pancreatic carcinoma, transitional cell carcinoma of urinary bladder and thyroid papillary carcinoma.", "output": {"entities": {"gene": [{"text": "AFP", "start": 11, "end": 14}], "disease": [{"text": "pleomorphic adenoma", "start": 80, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In addition, we tested a subset of treatment regimens in three breast cancer models representing distinct breast cancer subtypes: claudin-low (T11 OST), basal-like (C3-TAg GEMM), and luminal B (MMTV-Neu GEMM).", "output": {"entities": {"gene": [{"text": "OST", "start": 147, "end": 150}], "disease": [{"text": "breast cancer", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Further studies should examine the effects of antidepressant treatments upon EAAT2 expression in rodent models of depression to further elucidate the underlying molecular mechanisms.", "output": {"entities": {"gene": [{"text": "EAAT2", "start": 77, "end": 82}], "disease": [{"text": "depression", "start": 114, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EAAT2", "start": 77, "end": 82}, "tail": {"text": "depression", "start": 114, "end": 124}}]}}, "schema": []}
{"input": "Depression, parkinsonism, and hypoventilation (Perry syndrome) or familial motor neuron disease have been linked to mutations in dynactin P150 (Glued) (DCTN1).", "output": {"entities": {"gene": [{"text": "DCTN1", "start": 152, "end": 157}], "disease": [{"text": "Perry syndrome", "start": 47, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DCTN1", "start": 152, "end": 157}, "tail": {"text": "Perry syndrome", "start": 47, "end": 61}}]}}, "schema": []}
{"input": "In SU-DHL-6 the t (14; 18) translocation juxtaposes a truncated bcl-2 gene with J6 in a tail-to-head configuration, resulting in the deregulated expression of chimeric bcl-2/Ig transcripts.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 64, "end": 69}], "disease": [{"text": "translocation", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "These results support our previous hypothesis that OFMT might represent a translocation-associated tumor, underscore the likely importance of PHF1 rearrangements in the pathogenesis of these lesions, confirm the relationship between typical and malignant OFMT, and suggest a role for PHF1 FISH in the diagnosis of morphologically challenging cases.", "output": {"entities": {"gene": [{"text": "PHF1", "start": 142, "end": 146}], "disease": [{"text": "translocation", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Our case has phenotypic features of both JATD and axial SMD; and the extent of thoracic involvement appears more severe than in other C21orf2-positive cases.", "output": {"entities": {"gene": [{"text": "C21orf2", "start": 134, "end": 141}], "disease": [{"text": "axial SMD", "start": 50, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C21orf2", "start": 134, "end": 141}, "tail": {"text": "axial SMD", "start": 50, "end": 59}}]}}, "schema": []}
{"input": "To determine the roles of tumor-derived IL-35 in tumorigenesis and tumor immunity, we generated IL-35-producing plasmacytoma J558 and B16 melanoma cells and observed that the expression of IL-35 in cancer cells does not affect their growth and survival in vitro, but it stimulates tumorigenesis in both immune-competent and Rag1/2-deficient mice.", "output": {"entities": {"gene": [{"text": "Rag1", "start": 324, "end": 328}], "disease": [{"text": "plasmacytoma", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "An inbred strain of transgenic mice that expressed a mutated gene for type I procollagen and that developed spontaneous fractures was used to study the effects of age on the phenotype of fragile bones.", "output": {"entities": {"gene": [{"text": "type I procollagen", "start": 70, "end": 88}], "disease": [{"text": "spontaneous fractures", "start": 108, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Moreover, plasma PDCD5 levels were also inversely correlated with C-reactive protein and erythrocyte sedimentation rate.", "output": {"entities": {"gene": [{"text": "PDCD5", "start": 17, "end": 22}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 89, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Hb Lulu Island [beta 107 (G9) Gly--> Asp] was discovered in an East Indian female who carried a common beta zero-thalassemia allele, i. e., codon 15, TGG--> TAG (is a stop codon) in trans.", "output": {"entities": {"gene": [{"text": "TAG", "start": 157, "end": 160}], "disease": [{"text": "thalassemia", "start": 113, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "These findings further validate the importance of MECP2 mutation screening in parents of all mutation positive patients and careful evaluation of the pathogenicity of the mutation found in asymptomatic carriers before providing genetic counseling to the family.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 50, "end": 55}], "disease": [{"text": "asymptomatic", "start": 189, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The differentiation of carnitine-acylcarnitine translocase deficiency (CACT) from carnitine palmitoyltransferase type II deficiency (CPT-II) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency from mitochondrial trifunctional protein deficiency (MTP) continues to be ambiguous using current acylcarnitine profiling techniques either from plasma or blood spots, or in the intact cell system (fibroblasts/amniocytes).", "output": {"entities": {"gene": [{"text": "3-hydroxyacyl-CoA dehydrogenase", "start": 156, "end": 187}], "disease": [{"text": "blood spots", "start": 362, "end": 373}]}, "relations": {}}, "schema": []}
{"input": "NQO1 knockout (KO) mice showed hyperglycemia, body weight loss, impaired glucose clearance rate and a lower plasma insulin level after MLDS treatment.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 0, "end": 4}], "disease": [{"text": "hyperglycemia", "start": 31, "end": 44}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NQO1", "start": 0, "end": 4}, "tail": {"text": "hyperglycemia", "start": 31, "end": 44}}]}}, "schema": []}
{"input": "SKA2 methylation levels also predicted higher rates of current suicidal thoughts and behaviors, even after including well-established psychiatric risk factors for suicide in the model.", "output": {"entities": {"gene": [{"text": "SKA2", "start": 0, "end": 4}], "disease": [{"text": "suicidal thoughts", "start": 63, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We report here on an 11-year-old girl showing autism, macrocephaly, and facial dysmorphism, in which array-CGH showed a de novo microdeletion of ∼ 114 Kb in the 14q11. 2 chromosomal region, involving the SUPT16H, CHD8, and RAB2B genes.", "output": {"entities": {"gene": [{"text": "RAB2B", "start": 223, "end": 228}], "disease": [{"text": "facial dysmorphism", "start": 72, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.", "output": {"entities": {"gene": [{"text": "keratin 12", "start": 64, "end": 74}], "disease": [{"text": "Meesmann corneal dystrophy", "start": 104, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 12", "start": 64, "end": 74}, "tail": {"text": "Meesmann corneal dystrophy", "start": 104, "end": 130}}]}}, "schema": []}
{"input": "In addition, the endothelial cells in angiolipoma and angioleiomyoma, but not in venous lake, expressed CTGF mRNA.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 104, "end": 108}], "disease": [{"text": "angiolipoma", "start": 38, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.", "output": {"entities": {"gene": [{"text": "MIM", "start": 40, "end": 43}], "disease": [{"text": "partial lipodystrophy", "start": 78, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "These observations indicate that hypoxia is a key factor in determining NSC tropism to glioma and that SDF-1/CXCR4, uPA/uPAR, VEGF/VEGFR2, and hepatocyte growth factor/c-Met signaling pathways mediate increased NSC-to-glioma tropism under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 126, "end": 130}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We examined whether single nucleotide polymorphisms (SNP) of the matrix metalloproteinase 9 (MMP-9) and tissue inhibitor of metalloproteinase 4 (TIMP-4) genes are associated with risk of intracranial hemorrhage (ICH) among patients with brain arteriovenous malformation (BAVM).", "output": {"entities": {"gene": [{"text": "tissue inhibitor of metalloproteinase 4", "start": 104, "end": 143}], "disease": [{"text": "arteriovenous malformation", "start": 243, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "UBC with HER2 amplification presented with a broad variety of histological variants (median 2 vs. 1), frequently featured micropapillary tumor components (77% vs. 8%) and demonstrated a high amount of tumor associated inflammation.", "output": {"entities": {"gene": [{"text": "UBC", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 218, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Linomide is unable to inhibit either basal or hypoxia-induced secretion of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 75, "end": 79}], "disease": [{"text": "hypoxia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Serum levels of interleukin-8, RANTES, and monocyte chemoattractant protein-1 were measured in 36 cystic fibrosis patients grouped according to their genotype.", "output": {"entities": {"gene": [{"text": "monocyte chemoattractant protein-1", "start": 43, "end": 77}], "disease": [{"text": "cystic fibrosis", "start": 98, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Treatment of mice with resveratrol and TRAIL alone inhibited angiogenesis (as demonstrated by reduced number of blood vessels, and VEGF and VEGFR2 positive cells) and markers of metastasis (MMP-2 and MMP-9).", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 39, "end": 44}], "disease": [{"text": "metastasis", "start": 178, "end": 188}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRAIL", "start": 39, "end": 44}, "tail": {"text": "metastasis", "start": 178, "end": 188}}]}}, "schema": []}
{"input": "Transactive response DNA-binding protein 43 (TDP-43) is a major pathological protein in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 21, "end": 40}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 122, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The present study was undertaken to investigate the function of protease-activated receptor (PAR) in endometriotic lesions using a mouse model of endometriosis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 93, "end": 96}], "disease": [{"text": "endometriosis", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Our results have demonstrated significant differences in the concentrations of M-CSF, G-CSF, SCF (with the exception of GM-CSF), and CA 125 between the groups of ovarian cancer patients, cysts patients, and the healthy controls.", "output": {"entities": {"gene": [{"text": "M-CSF", "start": 79, "end": 84}], "disease": [{"text": "cysts", "start": 187, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Both frequency and type of EML4-ALK transcripts were investigated by reverse transcription PCR in 120 frozen NSCLC specimens from Italy and Spain; non-neoplastic lung tissues taken far from the tumor were used as controls.", "output": {"entities": {"gene": [{"text": "EML4", "start": 27, "end": 31}], "disease": [{"text": "non-neoplastic", "start": 147, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Decreased SST levels in MDD were confirmed at the protein precursor level.", "output": {"entities": {"gene": [{"text": "SST", "start": 10, "end": 13}], "disease": [{"text": "MDD", "start": 24, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SST", "start": 10, "end": 13}, "tail": {"text": "MDD", "start": 24, "end": 27}}]}}, "schema": []}
{"input": "When GPI deficient erythrocytes increase in proportion, massive hemolysis occurs due to activated complement attack during infection.", "output": {"entities": {"gene": [{"text": "GPI", "start": 5, "end": 8}], "disease": [{"text": "hemolysis", "start": 64, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Genetic polymorphisms involved in insulin-like growth factor (IGF) pathway in relation to mammographic breast density and IGF levels.", "output": {"entities": {"gene": [{"text": "IGF", "start": 62, "end": 65}], "disease": [{"text": "mammographic breast density", "start": 90, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Plasminogen activator inhibitor-1 gene is associated with major depression and antidepressant treatment response.", "output": {"entities": {"gene": [{"text": "Plasminogen activator inhibitor-1", "start": 0, "end": 33}], "disease": [{"text": "major depression", "start": 58, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Plasminogen activator inhibitor-1", "start": 0, "end": 33}, "tail": {"text": "major depression", "start": 58, "end": 74}}]}}, "schema": []}
{"input": "Our study established that a missense mutation in the PPO gene was the underlying mutation in this patient with VP and explained the occurrence of the phenotype in this family.", "output": {"entities": {"gene": [{"text": "PPO", "start": 54, "end": 57}], "disease": [{"text": "VP", "start": 112, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PPO", "start": 54, "end": 57}, "tail": {"text": "VP", "start": 112, "end": 114}}]}}, "schema": []}
{"input": "Rapidly progressive renal fibrosis after a slimming regimen including Chinese herbs containing aristolochic acid (AA) has been identified as Chinese-herb nephropathy (CHN).", "output": {"entities": {"gene": [{"text": "CHN", "start": 167, "end": 170}], "disease": [{"text": "nephropathy", "start": 154, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "SNCG mRNA was not expressed in the 10 non-neoplastic gastric mucosal tissues, although several CpGs were demethylated.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 0, "end": 4}], "disease": [{"text": "non-neoplastic", "start": 38, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "This was done in the same endemic area in which recently both non-random parental HLA-haplotype and preferential segregation of the HLA specificity LB-E12 (MB1, DC1, MT1) was demonstrated in lepromatous leprosy patients from multicase families.", "output": {"entities": {"gene": [{"text": "E12", "start": 151, "end": 154}], "disease": [{"text": "lepromatous leprosy", "start": 191, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Stably expressing the Flag-tagged N-terminal sequence of bcl-2 protein, encompassing BH4 domain, we found that this domain is sufficient to enhance the proangiogenic HIF-1/VEGF axis under hypoxic condition.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 172, "end": 176}], "disease": [{"text": "hypoxic", "start": 188, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that TGF-β regulating the CDC 25A in a Smad2 dependent way, translocates NFAT to nucleus and NFAT in co-operation with Smad2 promotes the tumor progression by upregulating the CDK2, CDK4, and cyclin E. This result signifies that TGF-β by regulating NFAT in different ways maintains the balance between EMT and cell proliferation mechanism concurrently during the late stage of breast cancer.", "output": {"entities": {"gene": [{"text": "EMT", "start": 326, "end": 329}], "disease": [{"text": "tumor progression", "start": 162, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "The fibrillar collagen area, the protein expression of MMP2, MMP9 and the transcriptional level of MMP2, MMP9 mRNA in infarction zone reduced in MSC group, ACEI group, and MSC + ACEI group.", "output": {"entities": {"gene": [{"text": "MSC", "start": 145, "end": 148}], "disease": [{"text": "infarction", "start": 118, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Hb Johnstown [beta109 (G11) Val--> Leu], a high oxygen affinity hemoglobin (Hb) variant associated with beta0-thalassemia (thal) [IVS-I-1 (G--> A)], was identified in an 8-year-old girl referred to our laboratory because of erythrocytosis and a left-shifted oxygen dissociation curve (ODC).", "output": {"entities": {"gene": [{"text": "ODC", "start": 285, "end": 288}], "disease": [{"text": "thalassemia", "start": 110, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Association between demographic and pathologic variables EGFR TKI response, time to treatment failure (TTF) and overall survival (OS) was examined using logistic regression and proportional hazards regression.", "output": {"entities": {"gene": [{"text": "TTF", "start": 103, "end": 106}], "disease": [{"text": "regression", "start": 162, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "The levels of LDL-C, ApoB and ApoA1/ApoB (ABCA-1); HDL-C, ApoA1, ApoB and ApoA1/ApoB (LIPC); TC, HDL-C, ApoA1 and ApoB (LIPG); TC, TG, HDL-C, LDL-C, ApoA1 and ApoB (MTHFR); TC, TG and ApoB (MYLIP); TG (PCSK9); TG, ApoA1 and ApoB (PPARD); and TC, HDL-C, LDL-C, ApoA1 and ApoB (SCARB1) in overweight/obese subjects were different among the genotypes (P < 0. 01-0. 001).", "output": {"entities": {"gene": [{"text": "PCSK9", "start": 202, "end": 207}], "disease": [{"text": "overweight", "start": 287, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "IKBB tumor suppressive role in nasopharyngeal carcinoma via NF-κB-mediated signalling.", "output": {"entities": {"gene": [{"text": "IKBB", "start": 0, "end": 4}], "disease": [{"text": "tumor", "start": 5, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "We selected an appropriate subset of variants for the investigation of common genetic risk factors and assessed SMAD1 to SMAD5 genes for association with diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "SMAD1", "start": 112, "end": 117}], "disease": [{"text": "diabetic nephropathy", "start": 154, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Folate deprivation enhances invasiveness of human colon cancer cells mediated by activation of sonic hedgehog signaling through promoter hypomethylation and cross action with transcription nuclear factor-kappa B pathway.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 95, "end": 109}], "disease": [{"text": "colon cancer", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The new dramatic phenotype, which we named \" lethal acantholytic epidermolysis bullosa, \" underscores the paramount role of DP in epidermal integrity.", "output": {"entities": {"gene": [{"text": "DP", "start": 124, "end": 126}], "disease": [{"text": "lethal acantholytic epidermolysis bullosa", "start": 45, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DP", "start": 124, "end": 126}, "tail": {"text": "lethal acantholytic epidermolysis bullosa", "start": 45, "end": 86}}]}}, "schema": []}
{"input": "Tyrosine phosphorylation and activation of the c-kit product with the ligand for c-kit (stem cell factor: SCF) results in proliferation of some human leukemia cell lines, such as M07E, and blast cells in a substantial fraction of AML cases.", "output": {"entities": {"gene": [{"text": "SCF", "start": 106, "end": 109}], "disease": [{"text": "leukemia", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Here, we compared the effect of aspirin (ASA) and so called \" safe \" nitric oxide (NO) derivative of ASA with those of non-selective and selective cyclooxygenase (COX)-1 and COX-2 in rat model of reflux esophagitis.", "output": {"entities": {"gene": [{"text": "COX", "start": 163, "end": 166}], "disease": [{"text": "reflux esophagitis", "start": 196, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Metastases of the human melanoma cell line Mel57, engineered to express recombinant VEGF-A (165), showed accelerated growth in a combined expansive and infiltrative pattern with marked central necrosis.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 84, "end": 90}], "disease": [{"text": "necrosis", "start": 193, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "We examined the levels of total cholesterol, high-density lipoprotein, low-density lipoprotein, triglycerides, vascular cell adhesion molecule 1, intercellular adhesion molecule 1, E-selectin, HbA1c, microalbuminuria (MAU), hs-CRP and carotid intima-media thickness.", "output": {"entities": {"gene": [{"text": "CRP", "start": 227, "end": 230}], "disease": [{"text": "microalbuminuria", "start": 200, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "In addition, Tff1-knockout (KO) and Tff1-wild-type mice were used for infections with the H. pylori strain called premouse Sydney strain 1.", "output": {"entities": {"gene": [{"text": "Tff1", "start": 13, "end": 17}], "disease": [{"text": "infections", "start": 70, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We report a Japanese family with distal hereditary motor neuronopathy type II (distal HMN II) due to a novel K141Q mutation in heat-shock 27-kDa protein 1 gene (HSPB1/HSP27).", "output": {"entities": {"gene": [{"text": "HSP27", "start": 167, "end": 172}], "disease": [{"text": "shock", "start": 132, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Besides, RASA1 was also decreased in the hypoxia HCC cells while the inhibition of miR-182 partially restored the level of RASA1.", "output": {"entities": {"gene": [{"text": "RASA1", "start": 9, "end": 14}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "These data suggest functional abnormalities of circulating pDCs and mDCs that could be important for immunomodulation after SAH.", "output": {"entities": {"gene": [{"text": "SAH", "start": 124, "end": 127}], "disease": [{"text": "abnormalities", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have indicated that several specific mechanisms of MDR may be involved in clinically refractory multiple myeloma patients, such as expression of P-glycoprotein (P-gp), expression of the lung-resistance protein (LRP) and suppression of apoptosis via expression of Bcl-2.", "output": {"entities": {"gene": [{"text": "P-gp", "start": 176, "end": 180}], "disease": [{"text": "refractory multiple myeloma", "start": 100, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "A total of 499 estrogen receptor-positive primary breast tumor specimens of advanced disease patients treated with first-line tamoxifen were genotyped for CYP2C19 * 2 and * 17 variant alleles, with primary end point time-to-treatment failure (TTF).", "output": {"entities": {"gene": [{"text": "TTF", "start": 243, "end": 246}], "disease": [{"text": "breast tumor", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "This supports the idea that the R84 residue in the DNA binding domain of IRF6 is a mutational hot spot for PPS.", "output": {"entities": {"gene": [{"text": "IRF6", "start": 73, "end": 77}], "disease": [{"text": "PPS", "start": 107, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IRF6", "start": 73, "end": 77}, "tail": {"text": "PPS", "start": 107, "end": 110}}]}}, "schema": []}
{"input": "hMSH2 is one of MMR genes involved in the correction of mispairing during replication and its mutations are associated with both--microsatellite instability and the hereditary and sporadic colon tumourgenesis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 16, "end": 19}], "disease": [{"text": "microsatellite instability", "start": 130, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Recurrent infections, asthma-like chronic reactive airway disease, hyperimmunoglobulins, hepatosplenomegaly with mildly elevated aspartate transaminase (AST), anemia, and thrombocytopenia were common and massive imidodipeptiduria was universal.", "output": {"entities": {"gene": [{"text": "AST", "start": 153, "end": 156}], "disease": [{"text": "reactive airway disease", "start": 42, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In premalignant Eμ-Myc transgenic mice deficient in Smchd1, there was an increase in the number of pre-B cells in the periphery, likely accounting for the accelerated disease in these animals.", "output": {"entities": {"gene": [{"text": "Smchd1", "start": 52, "end": 58}], "disease": [{"text": "premalignant", "start": 3, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Histopathological and behavioral alterations were evaluated via immunohistochemistry and the ration test, respectively, in rats transplanted with NSCs with or without the Ad-NURR1 adenovirus.", "output": {"entities": {"gene": [{"text": "NURR1", "start": 174, "end": 179}], "disease": [{"text": "adenovirus", "start": 180, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Nectin-like molecule 1 inhibits the migration and invasion of U251 glioma cells by regulating the expression of an extracellular matrix protein osteopontin.", "output": {"entities": {"gene": [{"text": "Nectin", "start": 0, "end": 6}], "disease": [{"text": "glioma", "start": 67, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Both immunoblastic lymphomas revealed monoclonal or aberrant B cells by FCI; 1 revealed a BGR.", "output": {"entities": {"gene": [{"text": "BGR", "start": 90, "end": 93}], "disease": [{"text": "lymphomas", "start": 19, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Overall, these results demonstrate a Knudson tumor suppressor role for SH2B3 in the pathogenesis of ALL and highlight a possible link between genetic predisposition factors in the pathogenesis of autoimmunity and leukemogenesis.", "output": {"entities": {"gene": [{"text": "SH2B3", "start": 71, "end": 76}], "disease": [{"text": "autoimmunity", "start": 196, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SH2B3", "start": 71, "end": 76}, "tail": {"text": "autoimmunity", "start": 196, "end": 208}}]}}, "schema": []}
{"input": "Actively immunised Brown Norway rats received ovalbumin inhalation with or without treatment of anti-MIF Ab.", "output": {"entities": {"gene": [{"text": "MIF", "start": 101, "end": 104}], "disease": [{"text": "inhalation", "start": 56, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The postprandial response in feelings of hunger was characterized by an SNP-SNP interaction involving SNPs in LEPR and NPY2R (668A > G and 585T > C, P < 0. 05).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 110, "end": 114}], "disease": [{"text": "hunger", "start": 41, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The 15q24 microdeletion may thus represent the first genetic hit to initiate leukaemogenesis and implicates PML and SUMO3 as novel components of the leukaemogenic network in TMD/AMKL.", "output": {"entities": {"gene": [{"text": "SUMO3", "start": 116, "end": 121}], "disease": [{"text": "hit", "start": 61, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We previously demonstrated that the transcription factor NF-E2-related factor2 (Nrf2), expressed abundantly in non-small-cell lung cancer (NSCLC) cells, plays a pivotal role in the proliferation and chemoresistance of NSCLC.", "output": {"entities": {"gene": [{"text": "NF-E2", "start": 57, "end": 62}], "disease": [{"text": "lung cancer", "start": 126, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Extracts from primary human tumors demonstrated more ATF-4 expression in tumors near necrotic areas.", "output": {"entities": {"gene": [{"text": "ATF-4", "start": 53, "end": 58}], "disease": [{"text": "necrotic", "start": 85, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATF-4", "start": 53, "end": 58}, "tail": {"text": "necrotic", "start": 85, "end": 93}}]}}, "schema": []}
{"input": "The STP mice could be a suitable animal model for interrogating the transition of chronic pancreatitis to pancreatic cancer.", "output": {"entities": {"gene": [{"text": "STP", "start": 4, "end": 7}], "disease": [{"text": "chronic pancreatitis", "start": 82, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "SH2B1 rs7359397 was also associated with homeostasis model assessment of insulin resistance in the Meta-Analyses of Glucose and Insulin-related traits Consortium data set (P = 3. 9 × 10 (-3)).", "output": {"entities": {"gene": [{"text": "SH2B1", "start": 0, "end": 5}], "disease": [{"text": "insulin resistance", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Our findings demonstrate that excessive infiltration of CD4 + and CD8 + T cells in nasal polyps may be associated with expression of Foxp3 + by Tregs but not with SAEs in Chinese patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 56, "end": 59}], "disease": [{"text": "nasal polyps", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Monocyte chemoattractant protein-1 induces a novel transcription factor that causes cardiac myocyte apoptosis and ventricular dysfunction.", "output": {"entities": {"gene": [{"text": "Monocyte chemoattractant protein-1", "start": 0, "end": 34}], "disease": [{"text": "ventricular dysfunction", "start": 114, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Diagnostic strategies for selection of patients for MMR gene analysis include analysis of microsatellite instability (MSI) and immunohistochemical (IHC) analysis of MMR proteins in tumor tissue.", "output": {"entities": {"gene": [{"text": "MMR", "start": 52, "end": 55}], "disease": [{"text": "microsatellite instability", "start": 90, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that miR-7 functions as a tumor suppressor and plays a substantial role in inhibiting the tumorigenesis and reversing the metastasis of HCC through the PI3K/Akt/mTOR-signaling pathway in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 29, "end": 34}], "disease": [{"text": "tumorigenesis", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In contrast, germ-line msh6 mutations were not found in any of the 45 sporadic cases and the 4 HNPCC cases in the population-based series or in the second series of 58 clinic-based, primarily HNPCC families.", "output": {"entities": {"gene": [{"text": "msh6", "start": 23, "end": 27}], "disease": [{"text": "sporadic", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Clinical charts and histologic review, neuroblastoma RAS viral (v-ras) oncogene homolog genotyping, and immunohistochemistry for HMB-45, BRAFV600E, phosphorylated extracellular signal-regulated kinase (pERK), phosphorylated protein kinase B, CD4, and CD8 were performed on 19 melanocytic nevi from 10 patients and 23 control nevi.", "output": {"entities": {"gene": [{"text": "CD4", "start": 242, "end": 245}], "disease": [{"text": "nevi", "start": 288, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "This review focuses on members of the TRPC3/6/7 group of TRPC proteins, revises current knowledge on their expression and regulation in endothelium, and discusses their role in cardiovascular disease as it relates to endothelial dysfunction.", "output": {"entities": {"gene": [{"text": "TRPC3", "start": 38, "end": 43}], "disease": [{"text": "cardiovascular disease", "start": 177, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Besides hypoxia, many cytokines, hormones and growth factors can up-regulate VEGF mRNA expression in various cell types.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 77, "end": 81}], "disease": [{"text": "hypoxia", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Dysfunction of the Golgi human secretory pathway Ca2 +-ATPase hSPCA1, encoded by ATP2C1, abrogates Ca2 + signaling and causes the acantholytic genodermatosis, Hailey-Hailey disease.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 49, "end": 52}], "disease": [{"text": "genodermatosis", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We found that expressions of HtrA1 mRNA and protein in ESCC tissues and cells were significantly lower than those in normal esophageal epithelial tissues and cells (P < 0. 05).", "output": {"entities": {"gene": [{"text": "HtrA1", "start": 29, "end": 34}], "disease": [{"text": "esophageal", "start": 124, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "To see whether APOBEC3B is overexpressed in other common cancers at the protein level, we investigated APOBEC3 protein expression in 100 gastric, 103 colorectal and 107 prostate cancer tissues as well as in 10 breast cancers by immunohistochemistry using antibody that could detect APOBEC3B, APOBEC3F and APOBEC3D proteins.", "output": {"entities": {"gene": [{"text": "APOBEC3F", "start": 292, "end": 300}], "disease": [{"text": "cancers", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We report the case of a 22-year-old woman with APL carrying a complex variant translocation t (5; 17; 15) (q11; q12; q22) confirmed by G-banding, reverse transcription polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), and spectral karyotyping analysis (SKY).", "output": {"entities": {"gene": [{"text": "SKY", "start": 282, "end": 285}], "disease": [{"text": "translocation", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate for the first time that 5-HT2B receptors are essential for isoproterenol-induced cardiac hypertrophy, which involves the regulation of interleukin-6, interleukin-1beta, and tumor necrosis factor-alpha cytokine production by cardiac fibroblasts.", "output": {"entities": {"gene": [{"text": "interleukin-1beta", "start": 174, "end": 191}], "disease": [{"text": "cardiac hypertrophy", "start": 105, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-1beta", "start": 174, "end": 191}, "tail": {"text": "cardiac hypertrophy", "start": 105, "end": 124}}]}}, "schema": []}
{"input": "Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.", "output": {"entities": {"gene": [{"text": "tyrosinase", "start": 63, "end": 73}], "disease": [{"text": "tyrosinase-related) oculocutaneous albinism", "start": 90, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tyrosinase", "start": 63, "end": 73}, "tail": {"text": "tyrosinase-related) oculocutaneous albinism", "start": 90, "end": 133}}]}}, "schema": []}
{"input": "The t (12; 21) translocation is present in up to 30% of childhood B-cell acute lymphoblastic and fuses a potential dimerization motif from the ets-related factor TEL to the N terminus of AML1.", "output": {"entities": {"gene": [{"text": "AML1", "start": 187, "end": 191}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "IL-17A and IL-17F induced a molecular pattern characterised by 27 inflammation-related genes for IL-17F and 165 for IL-17A.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 11, "end": 17}], "disease": [{"text": "inflammation", "start": 66, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "VEGF induction in the tumor periphery is mainly triggered by TGF-beta1, whereas VEGF expression in perinecrotic areas is regulated by both hypoxia and TGF-beta1.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 139, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.", "output": {"entities": {"gene": [{"text": "p24", "start": 159, "end": 162}], "disease": [{"text": "chronic cough", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In addition to age older than 10 years (odds ratio [OR], 24. 2; P =. 0001) and white race (OR, 11. 1; P =. 037), host factors for osteonecrosis included the vitamin D receptor FokI start site CC genotype (OR, 4. 5; P =. 045), and the thymidylate synthase low activity 2/2 enhancer repeat genotype (OR, 7. 4; P =. 049).", "output": {"entities": {"gene": [{"text": "thymidylate synthase", "start": 234, "end": 254}], "disease": [{"text": "osteonecrosis", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To investigate the prognostic significance of p21 (WAF1/CIP1) expression and its relationship with p53 accumulation and other apoptotic markers such as Bax, Bcl-2, and apoptotic index in relation to disease-specific survival in oral tongue squamous cell carcinoma (SCC).", "output": {"entities": {"gene": [{"text": "CIP1", "start": 56, "end": 60}], "disease": [{"text": "tongue squamous cell carcinoma", "start": 233, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that overexpression of ErbB2 in acinar cells leads to increased RAS activity without cell cycle progression and mediates inflammation via NF-kappaB.", "output": {"entities": {"gene": [{"text": "ErbB2", "start": 42, "end": 47}], "disease": [{"text": "inflammation", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Although high-dose chemotherapy (HDC) represents the standard of treatment for high-risk neuroblastoma (NBL), the most effective conditioning regimen still remains to be identified.", "output": {"entities": {"gene": [{"text": "HDC", "start": 33, "end": 36}], "disease": [{"text": "high-risk neuroblastoma", "start": 79, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVES: The purpose of the study was to detect the expression of SNCG, MAP2, SDF-1 and CXCR4 in gastric adenocarcinoma, and to evaluate their roles in the carcinogenesis of gastric adenocarcinoma, development, invasion and metastasis as well as their clinical significance.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 69, "end": 73}], "disease": [{"text": "gastric adenocarcinoma", "start": 100, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The simultaneous analysis of telomere length and cell surface antigen by multicolor flow-FISH may monitor abnormal clone or clonal evolution to predict recurrence more sensitively and specifically, and may provide a promising and widely applicable method for monitoring MRD in leukemia.", "output": {"entities": {"gene": [{"text": "FISH", "start": 89, "end": 93}], "disease": [{"text": "leukemia", "start": 277, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Although p27Kip1 (p27) is a cyclin-dependent kinase inhibitor and a contribution to tumorigenesis has been hypothesized, the possible role in tumours arising in the nasal and paranasal sinus regions is still unknown.", "output": {"entities": {"gene": [{"text": "p27", "start": 9, "end": 12}], "disease": [{"text": "tumorigenesis", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Association of the serotonin transporter and 5HT1Dbeta receptor genes with extreme, persistent and pervasive aggressive behaviour in children.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 19, "end": 40}], "disease": [{"text": "aggressive behaviour", "start": 109, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Nuclear STK15 expression is associated with aggressive behaviour of oral carcinoma cells in vivo and in vitro.", "output": {"entities": {"gene": [{"text": "STK15", "start": 8, "end": 13}], "disease": [{"text": "aggressive behaviour", "start": 44, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Clinicopathological and molecular data (expression of Cdx2, Apc, β-catenin, E-cadherin, Fhit, p53, and human epidermal growth factor receptor-2 (Her2); HER2 and TOPO2A gene copy number; PIK3CA mutations; microsatellite instability) were correlated to cancer-specific/overall survival (CSS/OS) using a Cox model.", "output": {"entities": {"gene": [{"text": "Cdx2", "start": 54, "end": 58}], "disease": [{"text": "microsatellite instability", "start": 204, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Only two mutations within the rhodopsin gene have been previously reported in patients with congenital stationary night blindness, constitutive activation also having been proposed as a possible disease mechanism.", "output": {"entities": {"gene": [{"text": "rhodopsin", "start": 30, "end": 39}], "disease": [{"text": "congenital stationary night blindness", "start": 92, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "rhodopsin", "start": 30, "end": 39}, "tail": {"text": "congenital stationary night blindness", "start": 92, "end": 129}}]}}, "schema": []}
{"input": "Knockdown of individual Notch receptors revealed that Notch1 and Notch2 receptors differentially contributed to GBM cell growth, with Notch2 having a predominant role.", "output": {"entities": {"gene": [{"text": "Notch1", "start": 54, "end": 60}], "disease": [{"text": "GBM", "start": 112, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Notch1", "start": 54, "end": 60}, "tail": {"text": "GBM", "start": 112, "end": 115}}]}}, "schema": []}
{"input": "By transducing primary melanoma cells with a lentivirus containing a 3'-UTR construct of PAR-1 mRNA, we could show that endogenous melanoma microRNAs interacted with PAR-1 3'-UTR and silenced a fused luciferase reporter.", "output": {"entities": {"gene": [{"text": "UTR", "start": 72, "end": 75}], "disease": [{"text": "melanoma", "start": 23, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "A new core promoter mutation and premature stop codon in the S gene in HBV strains from Iranian patients with cirrhosis.", "output": {"entities": {"gene": [{"text": "S gene", "start": 61, "end": 67}], "disease": [{"text": "cirrhosis", "start": 110, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We then identified mutations in SLC6A19 in members of the original family in whom Hartnup disorder was discovered and of three Japanese families.", "output": {"entities": {"gene": [{"text": "SLC6A19", "start": 32, "end": 39}], "disease": [{"text": "Hartnup disorder", "start": 82, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC6A19", "start": 32, "end": 39}, "tail": {"text": "Hartnup disorder", "start": 82, "end": 98}}]}}, "schema": []}
{"input": "Our results establish the link between MUHH and U2HR, show that fine-tuning of HR protein levels is important in control of hair growth, and identify a potential mechanism for preventing hair loss or promoting hair removal.", "output": {"entities": {"gene": [{"text": "HR", "start": 50, "end": 52}], "disease": [{"text": "MUHH", "start": 39, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HR", "start": 50, "end": 52}, "tail": {"text": "MUHH", "start": 39, "end": 43}}]}}, "schema": []}
{"input": "The review also covers the most recently discovered susceptibility genes including KIF1Bβ, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, and MAX, as well as a comparison with the sporadic form.", "output": {"entities": {"gene": [{"text": "MAX", "start": 130, "end": 133}], "disease": [{"text": "sporadic", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "In addition to six coding-region mutations, our strategy revealed four complete TWIST deletions, only one of which associated with a translocation was suspected on the basis of conventional cytogenetic analysis.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 80, "end": 85}], "disease": [{"text": "translocation", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We studied the role of hypoxia-inducible factor-1alpha (HIF-1alpha) in human lung adenocarcinoma cell invasion using a metastatic cell model composed of low invasive CL1 and highly invasive CL1-5 cells.", "output": {"entities": {"gene": [{"text": "CL1", "start": 166, "end": 169}], "disease": [{"text": "lung adenocarcinoma", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "This study included 532 never-smoking female lung adenocarcinoma patients and 532 controls, with EGFR SNPs retrieved from a genome-wide association study.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 97, "end": 101}], "disease": [{"text": "smoking", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Ethanol-elicited nuclear GAPDH augments TIEG2-mediated MAO B, which might play a role in brain damage in subjects with alcoholism.", "output": {"entities": {"gene": [{"text": "TIEG2", "start": 40, "end": 45}], "disease": [{"text": "alcoholism", "start": 119, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TIEG2", "start": 40, "end": 45}, "tail": {"text": "alcoholism", "start": 119, "end": 129}}]}}, "schema": []}
{"input": "Analysis of microsatellite instability (MSI) revealed that tumors from individuals who carried both putative risk genotypes tended to have a higher frequency of MSI positives than those from patients who carried both low risk genotypes, although a significant correlation was not found between EXO1 genotype and MSI status.", "output": {"entities": {"gene": [{"text": "EXO1", "start": 294, "end": 298}], "disease": [{"text": "microsatellite instability", "start": 12, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The minimal degree of variable expressivity among these individuals who were doubly deleted for BMP4 and OTX2 could be attributed to the combinatorial relationship of the two genes observed in animal models.", "output": {"entities": {"gene": [{"text": "OTX2", "start": 105, "end": 109}], "disease": [{"text": "variable expressivity", "start": 22, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "In this report we present a series of Australian PJS cases, which suggest that mutations in the STK11 gene do not account for many families or patients without a family history.", "output": {"entities": {"gene": [{"text": "STK11", "start": 96, "end": 101}], "disease": [{"text": "PJS", "start": 49, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STK11", "start": 96, "end": 101}, "tail": {"text": "PJS", "start": 49, "end": 52}}]}}, "schema": []}
{"input": "This study demonstrated that CRIM1 is expressed at high levels in resistant leukemia cells, indicating that CRIM1 may play a role in drug-resistance.", "output": {"entities": {"gene": [{"text": "CRIM1", "start": 29, "end": 34}], "disease": [{"text": "leukemia", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Probenecid, a prototypical uricosuric agent and chemical inhibitor of organic anion transporters known to target OAT3, was shown to be effective in limiting influenza A virus infection in vitro (50% inhibitory concentration [IC (50)] of 5. 0 & #215; 10 (-5) to 5. 0 & #215; 10 (-4) & #956; M; P & lt; 0. 005) and in vivo (P & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "OAT3", "start": 113, "end": 117}], "disease": [{"text": "influenza", "start": 157, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OAT3", "start": 113, "end": 117}, "tail": {"text": "influenza", "start": 157, "end": 166}}]}}, "schema": []}
{"input": "Whether upregulation of VEGF by a combination of MSC and VEGF gene transfer could enhance the protective effect of MSC in AKI is not clear.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 24, "end": 28}], "disease": [{"text": "AKI", "start": 122, "end": 125}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "VEGF", "start": 24, "end": 28}, "tail": {"text": "AKI", "start": 122, "end": 125}}]}}, "schema": []}
{"input": "In men, there was an association of FTO genotype with all measures of adiposity (mean BMI, number of times obese, and, in nonobese persons, number of times overweight).", "output": {"entities": {"gene": [{"text": "FTO", "start": 36, "end": 39}], "disease": [{"text": "overweight", "start": 156, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "An unselected series of 310 colorectal carcinomas, stratified according to microsatellite instability (MSI) and DNA ploidy, was examined for mutations and/or promoter hypermethylation of five components of the WNT signaling cascade [APC, CTNNB1 (encoding beta-catenin), AXIN2, TCF4, and WISP3] and three genes indirectly affecting this pathway [CDH1 (encoding E-cadherin), PTEN, and TP53].", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 360, "end": 370}], "disease": [{"text": "microsatellite instability", "start": 75, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Meanwhile, FRK over-expression promoted β-catenin translocation to the plasma membrane, where it formed complex with N-cadherin, while decreased β-catenin level in the nuclear fraction.", "output": {"entities": {"gene": [{"text": "FRK", "start": 11, "end": 14}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of VKORC1 by oral anticoagulants (OACs) is clinically used in therapy and in prevention of thrombosis.", "output": {"entities": {"gene": [{"text": "VKORC1", "start": 14, "end": 20}], "disease": [{"text": "thrombosis", "start": 102, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VKORC1", "start": 14, "end": 20}, "tail": {"text": "thrombosis", "start": 102, "end": 112}}]}}, "schema": []}
{"input": "Modulation of cocaine reward is a novel action of the melanocortin-MC4-R system and could be targeted for the development of new medications for cocaine addiction.", "output": {"entities": {"gene": [{"text": "MC4-R", "start": 67, "end": 72}], "disease": [{"text": "cocaine addiction", "start": 145, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MC4-R", "start": 67, "end": 72}, "tail": {"text": "cocaine addiction", "start": 145, "end": 162}}]}}, "schema": []}
{"input": "Similar to previous studies on murine melanoma, activation of the AMF receptor upregulated beta3 while it downregulated beta1 integrins at the cell surface, inducing an integrin phenotype characteristic for invasive/metastatic melanoma.", "output": {"entities": {"gene": [{"text": "beta3", "start": 91, "end": 96}], "disease": [{"text": "melanoma", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "LTB (4) induced migration and proliferation of SMC in vitro, and treatment with the BLT receptor antagonist BIIL 284 (10 mg/kg, once daily) for 14 days after carotid artery balloon injury in vivo inhibited intimal hyperplasia in rats.", "output": {"entities": {"gene": [{"text": "SMC", "start": 47, "end": 50}], "disease": [{"text": "intimal hyperplasia", "start": 206, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Increasing evidence implicates metabotropic glutamate receptor mGlu (7) in the pathophysiology of stress-related disorders such as depression and anxiety.", "output": {"entities": {"gene": [{"text": "mGlu (7", "start": 63, "end": 70}], "disease": [{"text": "depression", "start": 131, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGlu (7", "start": 63, "end": 70}, "tail": {"text": "depression", "start": 131, "end": 141}}]}}, "schema": []}
{"input": "However, Southern blot analysis failed to detect structural abnormalities of this gene, and genotype analysis ruled out the possibility that a CD43 allele might be shared by the affected individuals.", "output": {"entities": {"gene": [{"text": "CD43", "start": 143, "end": 147}], "disease": [{"text": "abnormalities", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "All of these genes, except transcription factor DLX1, are involved in the adhesion between neurons and radial glial cells.", "output": {"entities": {"gene": [{"text": "DLX1", "start": 48, "end": 52}], "disease": [{"text": "adhesion", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Concerted promoter hypermethylation of hMLH1, p16INK4A, and E-cadherin in gastric carcinomas with microsatellite instability.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 60, "end": 70}], "disease": [{"text": "microsatellite instability", "start": 98, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Recently the TEL gene at chromosome 12p13 and the AML1 gene at chromosome 21q22 were found to be involved in the translocation t (12; 21) (p13; q22).", "output": {"entities": {"gene": [{"text": "AML1", "start": 50, "end": 54}], "disease": [{"text": "translocation", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "A number of different genes have been shown to be associated with cases of tooth agenesis including AXIN2, IRF6, FGFR1, MSX1, PAX9, and TGFA.", "output": {"entities": {"gene": [{"text": "IRF6", "start": 107, "end": 111}], "disease": [{"text": "tooth agenesis", "start": 75, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Multivariate logistic regression analysis estimated the adjusted odds ratios (ORs) between the presence of HC2-targeted types and age, viral load, and type of transport medium.", "output": {"entities": {"gene": [{"text": "HC2", "start": 107, "end": 110}], "disease": [{"text": "viral load", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "At the edge of both types of ulcers, keratinocytes were p63 +, CD29 +, PCNA + and p53-.", "output": {"entities": {"gene": [{"text": "p63", "start": 56, "end": 59}], "disease": [{"text": "ulcers", "start": 29, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "The alloimmunization against platelet HPA-1a antigen in mothers of thrombocytopenic neonates is strongly associated with HLA class II structures (DR3 and DR13) and especially with HLA-DR52a antigen (98% of the cases reported here).", "output": {"entities": {"gene": [{"text": "DR3", "start": 146, "end": 149}], "disease": [{"text": "alloimmunization", "start": 4, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Toll-like receptor 4 Asp299Gly polymorphism is associated with an increased risk of pancreatic necrotic infection in acute pancreatitis: a study in the Chinese population.", "output": {"entities": {"gene": [{"text": "Toll-like receptor 4", "start": 0, "end": 20}], "disease": [{"text": "necrotic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our results show that deletion of A2 limits ONC-induced neurodegeneration and glial activation, and enhances axonal sprouting by a mechanism involving increases in BDNF and decreases in retinal inflammation.", "output": {"entities": {"gene": [{"text": "A2", "start": 48, "end": 50}], "disease": [{"text": "neurodegeneration", "start": 70, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "A2", "start": 48, "end": 50}, "tail": {"text": "neurodegeneration", "start": 70, "end": 87}}]}}, "schema": []}
{"input": "Hypoxia reduced PPARγ mRNA and protein levels, PPARγ activity, and the expression of PPARγ-regulated genes in human pulmonary artery smooth muscle cells (HPASMCs) exposed to 1% oxygen for 72 h. Similarly, exposure of mice to hypoxia (10% O₂) for 3 weeks reduced PPARγ mRNA and protein in mouse lung.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 16, "end": 21}], "disease": [{"text": "hypoxia", "start": 225, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "In this study, 42 prostatic adenocarcinomas were analyzed to determine whether increased bcl-2 levels are associated with rearrangements in the 2. 8-kb major breakpoint region, an association known to occur in certain follicular lymphomas featuring a t (14: 18) translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 89, "end": 94}], "disease": [{"text": "translocation", "start": 262, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "Stargardt disease is characterized by reduced visual acuity, atrophic macular changes, prominent' flavimaculatus flecks' in the pigment epithelium of the posterior retina, and a virtually pathognomic' dark choroid' pattern on fluorescein angiography.", "output": {"entities": {"gene": [{"text": "Stargardt disease", "start": 0, "end": 17}], "disease": [{"text": "atrophic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The translocation interrupts two genes, AML1 on chromosome 21 and ETO on chromosome 8, that are consequently fused in the der (8) chromosome to produce a novel chimeric gene and message.", "output": {"entities": {"gene": [{"text": "AML1", "start": 40, "end": 44}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "MPA' s pro-thrombotic effects were prevented by mifepristone, while NET-A did not affect arterial thrombosis.", "output": {"entities": {"gene": [{"text": "NET", "start": 68, "end": 71}], "disease": [{"text": "arterial thrombosis", "start": 89, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Functional mutation in or near the androgen receptor gene may explain the reported high levels of expression of this gene in the balding scalp.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 35, "end": 57}], "disease": [{"text": "balding", "start": 129, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Using a mouse model that recapitulates many aspects of the pathophysiology of human liver disease, we explored the mechanisms by which changes in the liver microenvironment induce dysplasia and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 194, "end": 197}], "disease": [{"text": "liver disease", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The AC and CC genotypes and the combined AC + CC genotype of rs151290 in KCNQ1 were associated with increases risk of T2DM before (OR = 1. 482, 95% CI = 1. 062-2. 069; p = 0. 021; OR = 1. 544, 95% CI = 1. 097-2. 172, p = 0. 013; and OR = 1. 509, 95% CI = 1. 097-2. 077, p = 0. 011, respectively) and after (OR = 1. 539, 95% CI = 1. 015-2. 332, p = 0. 042; OR = 1. 641, 95% CI = 1. 070-2. 516, p = 0. 023; and OR = 1. 582, 95% CI = 1. 061-2. 358, p = 0. 024; respectively) adjustment for sex, age, anthropometric measurements, biochemical indexes, smoking and alcohol consumption.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 73, "end": 78}], "disease": [{"text": "alcohol consumption", "start": 559, "end": 578}]}, "relations": {}}, "schema": []}
{"input": "A homozygous missense mutation predicting an Ala to Val change at codon 268 (A268V) in the HPD gene was found in the patient with tyrosinemia type III.", "output": {"entities": {"gene": [{"text": "HPD", "start": 91, "end": 94}], "disease": [{"text": "tyrosinemia type III", "start": 130, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HPD", "start": 91, "end": 94}, "tail": {"text": "tyrosinemia type III", "start": 130, "end": 150}}]}}, "schema": []}
{"input": "1, 2, 3, 4, 6-Penta-O-galloyl-β-D-glucose (PGG) inhibits glioma cancer U251 cells, more strongly than MDA-MB-231 and U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 117, "end": 120}], "disease": [{"text": "glioma", "start": 57, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family.", "output": {"entities": {"gene": [{"text": "SRD5A2", "start": 54, "end": 60}], "disease": [{"text": "5-alpha reductase deficiency", "start": 133, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SRD5A2", "start": 54, "end": 60}, "tail": {"text": "5-alpha reductase deficiency", "start": 133, "end": 161}}]}}, "schema": []}
{"input": "In the NFBC 1966 sample, having a mother with schizophrenia was associated with APA at the trend level (OR = 1. 14, 0. 99-1. 31, p = 0. 07).", "output": {"entities": {"gene": [{"text": "APA", "start": 80, "end": 83}], "disease": [{"text": "schizophrenia", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Severe molecular consequences, including the inability of the W152G protein aggregates to form protective aggresomes, may underlie the aniridia phenotype that results from the FOXC1 W152G mutation.", "output": {"entities": {"gene": [{"text": "FOXC1", "start": 176, "end": 181}], "disease": [{"text": "aniridia", "start": 135, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXC1", "start": 176, "end": 181}, "tail": {"text": "aniridia", "start": 135, "end": 143}}]}}, "schema": []}
{"input": "In another family previously diagnosed as having Thomsen' s disease, we unexpectedly found a CLCN1 14 bp deletion known to cause recessive myotonia, and a rare Trp-118-Gly polymorphism.", "output": {"entities": {"gene": [{"text": "CLCN1", "start": 93, "end": 98}], "disease": [{"text": "Thomsen' s disease", "start": 49, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLCN1", "start": 93, "end": 98}, "tail": {"text": "Thomsen' s disease", "start": 49, "end": 67}}]}}, "schema": []}
{"input": "We found partial merosin deficiency in a boy presenting at 12 yr with marked limb weakness and a waddling gait.", "output": {"entities": {"gene": [{"text": "merosin", "start": 17, "end": 24}], "disease": [{"text": "waddling gait", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that polymorphisms of HMOX1 and NQO1 genes are associated with a high risk of metabolic disorders, including high systolic and diastolic blood pressure, hypertriglyceridemia, and low HDL-c levels in Mexican Mestizo individuals.", "output": {"entities": {"gene": [{"text": "HMOX1", "start": 39, "end": 44}], "disease": [{"text": "diastolic blood pressure", "start": 144, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Logistic regression analyses established multimerin 1, pro-platelet basic protein, fibrinogen-α, and fibrinogen-β for prognosis of sepsis.", "output": {"entities": {"gene": [{"text": "pro-platelet basic protein", "start": 55, "end": 81}], "disease": [{"text": "sepsis", "start": 131, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The 24 nonresponders were randomized and comedicated under double-blind conditions with lithium carbonate (Li) (2 x 400 mg/day) (CIT-Li group) or with placebo (CIT-Pl group) from days 29 to 35.", "output": {"entities": {"gene": [{"text": "CIT", "start": 129, "end": 132}], "disease": [{"text": "blind", "start": 66, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "IGFBP-6 therefore might be involved in the direct effects of DES in androgen-independent prostate cancer.", "output": {"entities": {"gene": [{"text": "IGFBP-6", "start": 0, "end": 7}], "disease": [{"text": "prostate cancer", "start": 89, "end": 104}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGFBP-6", "start": 0, "end": 7}, "tail": {"text": "prostate cancer", "start": 89, "end": 104}}]}}, "schema": []}
{"input": "These studies define a new role for NR0B1 in oncogenic transformation and emphasize the utility of analyzing the function of EWS/FLI in Ewing' s sarcoma cells.", "output": {"entities": {"gene": [{"text": "NR0B1", "start": 36, "end": 41}], "disease": [{"text": "sarcoma", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the desmin gene have been recognized as a cause of desminopathy, a familial or sporadic disorder characterized by skeletal muscle weakness, often associated with cardiomyopathy or respiratory insufficiency.", "output": {"entities": {"gene": [{"text": "desmin", "start": 17, "end": 23}], "disease": [{"text": "desminopathy", "start": 64, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "desmin", "start": 17, "end": 23}, "tail": {"text": "desminopathy", "start": 64, "end": 76}}]}}, "schema": []}
{"input": "The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations.", "output": {"entities": {"gene": [{"text": "FAS", "start": 210, "end": 213}], "disease": [{"text": "autoimmune lymphoproliferative syndrome", "start": 17, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAS", "start": 210, "end": 213}, "tail": {"text": "autoimmune lymphoproliferative syndrome", "start": 17, "end": 56}}]}}, "schema": []}
{"input": "The single measurement of serum S100B at 6 h after ICH induction was significantly correlated with brain edema formation and the maximal extent of the hematoma volumes.", "output": {"entities": {"gene": [{"text": "S100B", "start": 32, "end": 37}], "disease": [{"text": "brain edema", "start": 99, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100B", "start": 32, "end": 37}, "tail": {"text": "brain edema", "start": 99, "end": 110}}]}}, "schema": []}
{"input": "Several retrospective epidemiological studies report that utilization of 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) inhibitors called statins at mid-life can reduce the risk of developing sporadic Alzheimer' s disease (AD) by as much as 70%.", "output": {"entities": {"gene": [{"text": "HMGCR", "start": 115, "end": 120}], "disease": [{"text": "sporadic", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Recurrent mutations representing 34. 5% of all DCX mutations often lead to similar phenotypes, for example, either severe in sporadic subcortical band heterotopia owing to Arg186 mutations or milder in familial cases owing to Arg196 mutations.", "output": {"entities": {"gene": [{"text": "DCX", "start": 47, "end": 50}], "disease": [{"text": "sporadic", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Thymosin beta4 triggers an epithelial-mesenchymal transition in colorectal carcinoma by upregulating integrin-linked kinase.", "output": {"entities": {"gene": [{"text": "beta4", "start": 9, "end": 14}], "disease": [{"text": "colorectal carcinoma", "start": 64, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to study the association of the ADIPOQ variations with body weight, serum adiponectin concentrations and conversion to T2DM in overweight subjects with impaired glucose tolerance.", "output": {"entities": {"gene": [{"text": "ADIPOQ", "start": 44, "end": 50}], "disease": [{"text": "body weight", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We now extend this work by showing that S100beta is induced in hearts of human subjects after myocardial infarction.", "output": {"entities": {"gene": [{"text": "S100beta", "start": 40, "end": 48}], "disease": [{"text": "myocardial infarction", "start": 94, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100beta", "start": 40, "end": 48}, "tail": {"text": "myocardial infarction", "start": 94, "end": 115}}]}}, "schema": []}
{"input": "TNF and LTA SNPs were not associated with the degree of atopy.", "output": {"entities": {"gene": [{"text": "TNF", "start": 0, "end": 3}], "disease": [{"text": "atopy", "start": 56, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "With kinase suppressor of Ras 1 (KSR1) depletion as a reference standard, we used functional signature ontology (FUSION) analysis to identify the γ1 subunit of AMP-activated protein kinase (AMPK) as an essential contributor to PGC1β expression and colon tumor cell survival.", "output": {"entities": {"gene": [{"text": "KSR1", "start": 33, "end": 37}], "disease": [{"text": "colon tumor", "start": 248, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "To better understand the molecular mechanisms of prostate cancer (PCA) dissemination and to develop new anti-metastasis therapies, key regulatory molecules involved in PCA metastasis were identified in two human androgen-independent PCA cell lines, highly metastatic 1E8-H and lowly metastatic 2B4-L cells.", "output": {"entities": {"gene": [{"text": "2B4", "start": 294, "end": 297}], "disease": [{"text": "metastasis", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Within the group of EOPA-JRA patients, IL-1A2 was also associated with elevation of the erythrocyte sedimentation rate (P < 0. 0025).", "output": {"entities": {"gene": [{"text": "EOPA", "start": 20, "end": 24}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 88, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "UGT1A1, SLCO1B1 and SLCO1B3 polymorphisms become risk factors in neonates showing 10% or greater body weight loss during the neonatal period.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 0, "end": 6}], "disease": [{"text": "body weight", "start": 97, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Cells were assayed for expression of the hypoxia-inducible genes carbonic anhydrase 9 (CA9) and vascular endothelial growth factor (VEGF) by RT-PCR and for clonogenic survival after irradiation with 2, 5 or 10 Gy, under normoxic or hypoxic (0. 1% O2, 12 h) conditions in the presence or absence of chetomin (150 nM, 12 h, pre-treatment of 4 h).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 132, "end": 136}], "disease": [{"text": "hypoxic", "start": 232, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities.", "output": {"entities": {"gene": [{"text": "SOX4", "start": 60, "end": 64}], "disease": [{"text": "intellectual disability", "start": 144, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOX4", "start": 60, "end": 64}, "tail": {"text": "intellectual disability", "start": 144, "end": 167}}]}}, "schema": []}
{"input": "Akin to secretory breast cancer, MASC expresses S-100 protein, mammaglobin, vimentin, and harbors a t (12; 15) (p13; q25) translocation which leads to ETV6-NTRK3 fusion product.", "output": {"entities": {"gene": [{"text": "p13", "start": 112, "end": 115}], "disease": [{"text": "breast cancer", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "These observations indicate that the LAMP assay is very useful for the diagnosis of HSV-1, HSV-2, and VZV infections.", "output": {"entities": {"gene": [{"text": "LAMP", "start": 37, "end": 41}], "disease": [{"text": "infections", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the possible role of aalpha3, alpha5 and alpha7 nAChR subunit mediated PI3-K/Akt/PTEN pathway activation in squamous cell carcinoma of the head and neck (HNSCC) development, mRNA was isolated from 30 HNSCC tissues of known Akt activation state and were analyzed by reverse transcription polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "PI3", "start": 84, "end": 87}], "disease": [{"text": "squamous cell carcinoma of the head and neck", "start": 121, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We uncovered complex rearrangements in the MARS2 gene in all ARSAL patients.", "output": {"entities": {"gene": [{"text": "MARS2", "start": 43, "end": 48}], "disease": [{"text": "ARSAL", "start": 61, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MARS2", "start": 43, "end": 48}, "tail": {"text": "ARSAL", "start": 61, "end": 66}}]}}, "schema": []}
{"input": "Other rare translocation partners for ALK other than EML4 may be found in lung cancers, including TRK-fused gene (TFG) and kinesin family member 5B (KIF5B).", "output": {"entities": {"gene": [{"text": "TFG", "start": 114, "end": 117}], "disease": [{"text": "translocation", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "At 4 h following pilocarpine-induced seizures, expression of NGF, BDNF, HB-EGF, and FGF-2 increased only in the mice manifesting tonic-clonic convulsions and not in mice without seizures.", "output": {"entities": {"gene": [{"text": "NGF", "start": 61, "end": 64}], "disease": [{"text": "tonic-clonic convulsions", "start": 129, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NGF", "start": 61, "end": 64}, "tail": {"text": "tonic-clonic convulsions", "start": 129, "end": 153}}]}}, "schema": []}
{"input": "We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls.", "output": {"entities": {"gene": [{"text": "POMC", "start": 117, "end": 121}], "disease": [{"text": "hair color", "start": 170, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "In HCC cells, MAT1A/MAT2A switch is associated with global DNA hypomethylation, decrease in DNA repair, genomic instability, and signaling deregulation including c-MYC overexpression, rise in polyamine synthesis, upregulation of RAS/ERK, IKK/NF-kB, PI3K/AKT, and LKB1/AMPK axis.", "output": {"entities": {"gene": [{"text": "AKT", "start": 254, "end": 257}], "disease": [{"text": "genomic instability", "start": 104, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We found evidence for a PTEN-related sequence (PTEN-rs) on genomic DNA of GBM and non-neoplastic cells.", "output": {"entities": {"gene": [{"text": "PTEN-rs", "start": 47, "end": 54}], "disease": [{"text": "non-neoplastic", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Both patients have duplications involving the Xp11. 22-p11. 23 region, indicating that this is an area of interest for future translational autism research.", "output": {"entities": {"gene": [{"text": "p11", "start": 47, "end": 50}], "disease": [{"text": "autism", "start": 140, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The association of intense isometric exercise, abuse of erythropoietin and nandrolone is likely to have predisposed to coronary thrombus formation and acute myocardial infarction, as the patient presented no traditional cardiovascular risk factors.", "output": {"entities": {"gene": [{"text": "erythropoietin", "start": 56, "end": 70}], "disease": [{"text": "myocardial infarction", "start": 157, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "erythropoietin", "start": 56, "end": 70}, "tail": {"text": "myocardial infarction", "start": 157, "end": 178}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the association of phosphoenolpyruvate carboxykinase 1 polymorphisms with metabolic traits in psychiatric patients treated with psychotropic drugs inducing weight gain and in general population samples.", "output": {"entities": {"gene": [{"text": "phosphoenolpyruvate carboxykinase 1", "start": 60, "end": 95}], "disease": [{"text": "weight gain", "start": 197, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "MRI (n = 10) showed pituitary hypoplasia, mean vertical height 2. 61 +/-0. 76 mm.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "height", "start": 56, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Riluzole' s therapeutic potential for treating mood disorders may involve GLT-1 and BDNF, and we suggest this protocol could be used to further characterize its precise long-term biochemical mechanisms of action in animal models of depression.", "output": {"entities": {"gene": [{"text": "GLT-1", "start": 74, "end": 79}], "disease": [{"text": "mood disorders", "start": 47, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLT-1", "start": 74, "end": 79}, "tail": {"text": "mood disorders", "start": 47, "end": 61}}]}}, "schema": []}
{"input": "These results suggest that partial androgen resistance in this patient with Reifenstein syndrome is due to a single point mutation in the steroid binding domain of the androgen receptor.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 168, "end": 185}], "disease": [{"text": "Reifenstein syndrome", "start": 76, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 168, "end": 185}, "tail": {"text": "Reifenstein syndrome", "start": 76, "end": 96}}]}}, "schema": []}
{"input": "We hypothesized that TOLLIP and its common variants negatively regulate TLR signaling in human monocytes and are associated with susceptibility to tuberculosis.", "output": {"entities": {"gene": [{"text": "TOLLIP", "start": 21, "end": 27}], "disease": [{"text": "susceptibility to tuberculosis", "start": 129, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The methylation and mRNA expression of LATS1 and LATS2 may provide useful clues to the development of the diagnostic assays for astrocytoma.", "output": {"entities": {"gene": [{"text": "LATS1", "start": 39, "end": 44}], "disease": [{"text": "astrocytoma", "start": 128, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LATS1", "start": 39, "end": 44}, "tail": {"text": "astrocytoma", "start": 128, "end": 139}}]}}, "schema": []}
{"input": "We investigated the prognostic significance of microsatellite instability (MSI) and the association with clinicopathological factors in colorectal cancer, and further identified MBD4 mutations and their clinicopathological significance.", "output": {"entities": {"gene": [{"text": "MBD4", "start": 178, "end": 182}], "disease": [{"text": "microsatellite instability", "start": 47, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The finding of IL-1β/IRAK-1 signaling promoting Gankyrin expression through JNK and NF-Y/p300/CBP complex provides a fresh view on inflammation-enhanced hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "p300", "start": 89, "end": 93}], "disease": [{"text": "hepatocarcinogenesis", "start": 153, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Augmented atherogenesis in LDL receptor deficient mice lacking both macrophage ABCA1 and ApoE.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 79, "end": 84}], "disease": [{"text": "atherogenesis", "start": 10, "end": 23}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCA1", "start": 79, "end": 84}, "tail": {"text": "atherogenesis", "start": 10, "end": 23}}]}}, "schema": []}
{"input": "Seventy-two tumors were CRC with defective DNA mismatch repair (MMR; microsatellite instability and/or loss of protein expression by immunohistochemical analysis), and 40 were proficient MMR controls.", "output": {"entities": {"gene": [{"text": "MMR", "start": 64, "end": 67}], "disease": [{"text": "microsatellite instability", "start": 69, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We have elucidated the role of maspin RCL on adhesion, migration, and invasion by transfecting the highly invasive human breast carcinoma MDA-MB-231 cell line with pcDNA3. 1-His/FLAG containing wild-type maspin, ovalbumin, or maspin/ovalbumin RCL chimeric mutants in which maspin RCL is replaced by ovalbumin (MOM) and vice versa (OMO).", "output": {"entities": {"gene": [{"text": "RCL", "start": 38, "end": 41}], "disease": [{"text": "breast carcinoma", "start": 121, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.", "output": {"entities": {"gene": [{"text": "WT1", "start": 24, "end": 27}], "disease": [{"text": "Frasier syndrome", "start": 100, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WT1", "start": 24, "end": 27}, "tail": {"text": "Frasier syndrome", "start": 100, "end": 116}}]}}, "schema": []}
{"input": "We observed that BRN3A is independent of the regulative activity of HIPK2 and undergoes positive autoregulation in cervical cancer cells.", "output": {"entities": {"gene": [{"text": "BRN3A", "start": 17, "end": 22}], "disease": [{"text": "cervical cancer", "start": 115, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRN3A", "start": 17, "end": 22}, "tail": {"text": "cervical cancer", "start": 115, "end": 130}}]}}, "schema": []}
{"input": "A defect in klotho gene expression in the mouse results in a syndrome that resembles human ageing, including a short lifespan, infertility, arteriosclerosis, skin atrophy, osteoporosis and emphysema.", "output": {"entities": {"gene": [{"text": "klotho", "start": 12, "end": 18}], "disease": [{"text": "emphysema", "start": 189, "end": 198}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "klotho", "start": 12, "end": 18}, "tail": {"text": "emphysema", "start": 189, "end": 198}}]}}, "schema": []}
{"input": "We have addressed the effect of edaravone on the expression of vascular endothelial growth factor (VEGF), a potential mediator of brain edema, in astrocytes exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 99, "end": 103}], "disease": [{"text": "hypoxia", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated the effect of recombinant TFF3 (rTFF3) stimulation on the expression and cellular localization of the epithelial (E)-cadherin-catenin complex, a prime mediator of Ca2 + dependent cell-cell adhesion, and the adenomatous polyposis coli (APC)-catenin complex in HT29, HCT116, and SW480 colorectal carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 191, "end": 194}], "disease": [{"text": "adenomatous polyposis coli", "start": 235, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Interleukin 8 heterozygote status was associated with spastic diplegia.", "output": {"entities": {"gene": [{"text": "Interleukin 8", "start": 0, "end": 13}], "disease": [{"text": "spastic diplegia", "start": 54, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Finally, a combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for SNPs in CACNA1C and in the region of NEK4-ITIH1-ITIH3-ITIH4.", "output": {"entities": {"gene": [{"text": "ITIH4", "start": 166, "end": 171}], "disease": [{"text": "bipolar disorder", "start": 55, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITIH4", "start": 166, "end": 171}, "tail": {"text": "bipolar disorder", "start": 55, "end": 71}}]}}, "schema": []}
{"input": "Mismatch repair (MMR) proteins (MSH2 and MLH1) deficiency is responsible for microsatellite instability (MSI) status.", "output": {"entities": {"gene": [{"text": "MMR", "start": 17, "end": 20}], "disease": [{"text": "microsatellite instability", "start": 77, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Mutations in Bcl-2 associated athanogene-3 (BAG3) are a rare cause of myofibrillar myopathy, characterised by rapidly progressive proximal and axial myopathy, cardiomyopathy and respiratory compromise.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 13, "end": 18}], "disease": [{"text": "cardiomyopathy", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We first identified MFG-E8 downregulation in invasive lesions in transgenic mammary tumor models, which were confirmed in LCM-isolated human invasive ductal carcinomas compared with patient-matched normal tissues.", "output": {"entities": {"gene": [{"text": "MFG-E8", "start": 20, "end": 26}], "disease": [{"text": "mammary tumor", "start": 76, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MFG-E8", "start": 20, "end": 26}, "tail": {"text": "mammary tumor", "start": 76, "end": 89}}]}}, "schema": []}
{"input": "Binding between PBMC surface Sialyl-LewisX and activated endothelial cell E-selectin might therefore play a role in the pathogenesis of SSc-related isolated pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "E-selectin", "start": 74, "end": 84}], "disease": [{"text": "pulmonary hypertension", "start": 157, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "INHBA expression was examined in 46 esophageal samples (nine Barrett' s metaplasia (BM); seven BM/low-grade dysplasia; eight low-grade dysplasia; seven high-grade dysplasia; 15 EAC) using oligonucleotide microarrays and real-time reverse transcription-polymerase chain reaction (RT-PCR) and in 90 tissue samples (79 EAC; 8 dysplastic; 3 BM) using immunohistochemistry (IHC).", "output": {"entities": {"gene": [{"text": "INHBA", "start": 0, "end": 5}], "disease": [{"text": "esophageal", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Fused in sarcoma/translocated in liposarcoma (FUS/TLS or FUS) is a multifunctional DNA-/RNA-binding protein that is involved in a variety of cellular functions including transcription, protein translation, RNA splicing, and transport.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 88, "end": 107}], "disease": [{"text": "sarcoma", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.", "output": {"entities": {"gene": [{"text": "protoporphyrinogen oxidase", "start": 56, "end": 82}], "disease": [{"text": "variegate porphyria", "start": 102, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "protoporphyrinogen oxidase", "start": 56, "end": 82}, "tail": {"text": "variegate porphyria", "start": 102, "end": 121}}]}}, "schema": []}
{"input": "Evidence has shown an association of RORA and RORB polymorphisms with susceptibility to autism and depression.", "output": {"entities": {"gene": [{"text": "RORB", "start": 46, "end": 50}], "disease": [{"text": "autism", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "To study stereotactic magnetic resonance imaging (MRI) features of the basal ganglia in DYT1 primary dystonia.", "output": {"entities": {"gene": [{"text": "MRI", "start": 50, "end": 53}], "disease": [{"text": "primary dystonia", "start": 93, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We conclude that genomic instability in colorectal adenomas is reflected by EGFR, MYC, NCOA3, and RAB20 amplifications that do correlate with histomorphological features and are indicative for adenoma recurrence and the presence of synchronous carcinomas.", "output": {"entities": {"gene": [{"text": "NCOA3", "start": 87, "end": 92}], "disease": [{"text": "adenoma", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The translocation t (14; 18) and its t (2; 18) and t (18, 22) variants, which involve the BCL2 genetic hallmark for follicular lymphoma (FL), have been reported in several cases of chronic B-cell lymphoproliferative disease (CLPD) and frequently in chronic lymphocytic leukaemia (CLL).", "output": {"entities": {"gene": [{"text": "BCL2", "start": 90, "end": 94}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of endogenous IGF2BP1 by siRNA exhibited similar effects as the overexpression of miR-625, whereas overexpression of IGF2BP1 (without the 3'-UTR) abrogated miR-625-mediated metastasis inhibition.", "output": {"entities": {"gene": [{"text": "UTR", "start": 151, "end": 154}], "disease": [{"text": "metastasis", "start": 183, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Sections from 66 effusions and 90 primary and metastatic lesions from 62 ovarian and primary peritoneal carcinoma patients, were evaluated for expression of basic fibroblast factor (bFGF), interleukin-8 (IL-8), and vascular endothelial growth factor (VEGF) using mRNA in situ hybridization (ISH).", "output": {"entities": {"gene": [{"text": "IL-8", "start": 204, "end": 208}], "disease": [{"text": "primary peritoneal carcinoma", "start": 85, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We conclude that these polymorphisms in the NEP gene do not contribute to genetic risk factors for sporadic AD.", "output": {"entities": {"gene": [{"text": "NEP", "start": 44, "end": 47}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Patients carrying PKD1 mutations, especially those with truncating mutations, could have a more rapidly progressive disease than others.", "output": {"entities": {"gene": [{"text": "PKD1", "start": 18, "end": 22}], "disease": [{"text": "rapidly progressive", "start": 96, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Haploinsufficiency of RAI1 results in developmental delay, mental retardation, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS.", "output": {"entities": {"gene": [{"text": "RAI1", "start": 22, "end": 26}], "disease": [{"text": "mental retardation", "start": 59, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAI1", "start": 22, "end": 26}, "tail": {"text": "mental retardation", "start": 59, "end": 77}}]}}, "schema": []}
{"input": "t (11; 18) (q21; q21) occurs specifically in mucosa-associated lymphoid tissue (MALT) lymphoma and the translocation generates a functional API2-MALT1 fusion product that activates nuclear factor (NF) kappaB.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 145, "end": 150}], "disease": [{"text": "translocation", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Of 535 sporadic NETs in the pancreas collected from the NET archives of the departments of pathology in Zurich, Switzerland, and Kiel, Germany, 24 patients (4. 5%) suffered from sporadic pancreatic gastrinomas and ZES.", "output": {"entities": {"gene": [{"text": "NET", "start": 16, "end": 19}], "disease": [{"text": "sporadic", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Since adrenomedullin (AM) elicits vasodilatation by binding to specific AM receptors consisted of calcitonin-receptor-like receptor (CRLR)/receptor-activity-modifying protein 2 (RAMP2) or CRLR/receptor-activity-modifying protein 3 (RAMP3) on endothelial cells and stimulating nitric oxide production, AM possibly involves in glomerular capillary dilatation in early phase of diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "CRLR", "start": 133, "end": 137}], "disease": [{"text": "dilatation", "start": 38, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Homozygotes are highly susceptible to infection by Listeria monocytogenes, confirming the essential role of TNF in innate immune defense.", "output": {"entities": {"gene": [{"text": "TNF", "start": 108, "end": 111}], "disease": [{"text": "infection by Listeria monocytogenes", "start": 38, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 108, "end": 111}, "tail": {"text": "infection by Listeria monocytogenes", "start": 38, "end": 73}}]}}, "schema": []}
{"input": "These findings suggest that multiple C-C chemokines, acting at least in part via CCR3, contribute to bronchial eosinophilia in both atopic and nonatopic asthma.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 81, "end": 85}], "disease": [{"text": "atopic", "start": 132, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the novel mutation p. Ser217Cys, mapping between the FKH and the polyalanine domain of FOXL2 and producing a mild eyelid phenotype, led to normal localization and transactivation.", "output": {"entities": {"gene": [{"text": "FOXL2", "start": 102, "end": 107}], "disease": [{"text": "mild", "start": 124, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Abnormal expression of SAP-102 in schizophrenia and SAP-102 and PSD-95 in mood disorders in subcortical structures receiving afferent glutamatergic innervation from frontal cortex suggests dysregulation of cortical-subcortical circuitry in these illnesses.", "output": {"entities": {"gene": [{"text": "PSD-95", "start": 64, "end": 70}], "disease": [{"text": "mood disorders", "start": 74, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD-95", "start": 64, "end": 70}, "tail": {"text": "mood disorders", "start": 74, "end": 88}}]}}, "schema": []}
{"input": "Significant correlations were observed between FAK overexpression and cell differentiation (P = 0. 0057), depth of tumour invasion (P = 0. 0023), presence of regional lymph node metastasis (P = 0. 0097), number of lymph node metastases (P = 0. 0026), and disease stage (P = 0. 012).", "output": {"entities": {"gene": [{"text": "FAK", "start": 47, "end": 50}], "disease": [{"text": "lymph node metastases", "start": 214, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "In humans, mutations in the DLD homodimer interface have been linked to an atypical form of DLD deficiency.", "output": {"entities": {"gene": [{"text": "DLD", "start": 28, "end": 31}], "disease": [{"text": "DLD deficiency", "start": 92, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DLD", "start": 28, "end": 31}, "tail": {"text": "DLD deficiency", "start": 92, "end": 106}}]}}, "schema": []}
{"input": "We assume that the clinical anomalies are due to der (9) monosomy 9pter--> p22, trisomy 10q--> 26qter.", "output": {"entities": {"gene": [{"text": "p22", "start": 75, "end": 78}], "disease": [{"text": "monosomy", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Inherited defects of granule-dependent cytotoxicity led to the life-threatening immune disorder hemophagocytic lymphohistiocytosis (HLH), characterized by uncontrolled CD8 T-cell and macrophage activation.", "output": {"entities": {"gene": [{"text": "CD8", "start": 168, "end": 171}], "disease": [{"text": "immune disorder", "start": 80, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of SOX1 by a constitutive or inducible approach could suppress cell proliferation, colony formation, and invasion ability in HCC cell lines, as well as tumor growth in nonobese diabetic/severe combined immunodeficiency mice.", "output": {"entities": {"gene": [{"text": "HCC", "start": 140, "end": 143}], "disease": [{"text": "severe combined immunodeficiency", "start": 201, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Tumors with lymph node metastases had more FAK protein than those without metastases.", "output": {"entities": {"gene": [{"text": "FAK", "start": 43, "end": 46}], "disease": [{"text": "lymph node metastases", "start": 12, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Analysis of the coding sequences of the desmin, alphaB-crystallin, SEPN1, lamin A/C genes and of exon 2 of the myotilin gene showed no abnormalities in the patient.", "output": {"entities": {"gene": [{"text": "SEPN1", "start": 67, "end": 72}], "disease": [{"text": "abnormalities", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Association of BST B1 restriction fragment length polymorphism (RFLP) of the parathyroid hormone (PTH) gene with bone mineral density (BMD) was examined in 383 healthy postmenopausal women in Japan who were unrelated.", "output": {"entities": {"gene": [{"text": "PTH", "start": 98, "end": 101}], "disease": [{"text": "bone mineral density", "start": 113, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Gene-expression profiling and a systems biology analysis identified activation of intracellular vascular endothelial growth factor (VEGF) signaling and hypoxia response pathways in progressive patients, which was associated with upregulation of hypoxia-inducible-factor (HIF)-1alpha and several HIF target genes, such as transferrin, transferrin-receptor, p21, and VEGF-receptor 1, but downregulation of VEGF-A.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 404, "end": 410}], "disease": [{"text": "hypoxia", "start": 152, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We explored (i) if EZH2 expression is regulated by hypoxia and ischemia; (ii) the impact of EZH2 on the expression of two pro-angiogenic genes: eNOS and BDNF; (iii) the functional effect of EZH2 inhibition on cultured endothelial cells (ECs); (iv) the therapeutic potential of EZH2 inhibition in a mouse model of limb ischemia (LI).", "output": {"entities": {"gene": [{"text": "BDNF", "start": 153, "end": 157}], "disease": [{"text": "ischemia", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.", "output": {"entities": {"gene": [{"text": "Dymeclin", "start": 0, "end": 8}], "disease": [{"text": "Dyggve-Melchior-Clausen syndrome", "start": 30, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Dymeclin", "start": 0, "end": 8}, "tail": {"text": "Dyggve-Melchior-Clausen syndrome", "start": 30, "end": 62}}]}}, "schema": []}
{"input": "PAH was evaluated in miR-145 knockout and mice treated with anti-miRs via measurement of systolic right ventricular pressure, right ventricular hypertrophy, and percentage of remodeled pulmonary arteries.", "output": {"entities": {"gene": [{"text": "miR-145", "start": 21, "end": 28}], "disease": [{"text": "right ventricular hypertrophy", "start": 126, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "PURPOSE: To investigate the molecular mechanisms that lead to inhibition of intimal hyperplasia (IH) following p53 gene therapy.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 111, "end": 119}], "disease": [{"text": "intimal hyperplasia", "start": 76, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The objective of the present studies was to investigate the hypothesis that chronic alcohol consumption alters the activity of the HPA axis and pituitary beta-END as a function of severity of alcohol abuse, gender, and age.", "output": {"entities": {"gene": [{"text": "beta-END", "start": 154, "end": 162}], "disease": [{"text": "alcohol abuse", "start": 192, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-END", "start": 154, "end": 162}, "tail": {"text": "alcohol abuse", "start": 192, "end": 205}}]}}, "schema": []}
{"input": "Injection of a subnephritogenic dose of rabbit anti-mouse glomerular basement membrane serum induced glomerular disease in DAF knockout mice but not in wild-type controls.", "output": {"entities": {"gene": [{"text": "DAF", "start": 123, "end": 126}], "disease": [{"text": "glomerular disease", "start": 101, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The MUC5B variant was not a risk factor for lung fibrosis in patients with SSc or sarcoidosis and did not predict more rapidly progressive lung disease in any of the groups.", "output": {"entities": {"gene": [{"text": "MUC5B", "start": 4, "end": 9}], "disease": [{"text": "rapidly progressive", "start": 119, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In a rat model of LPS-induced airway inflammation, concurrent cigarette smoke inhalation enhanced mucin content of the bronchoalveolar lavage fluid, muc5AC gene expression, and mucous cell metaplasia in the airways.", "output": {"entities": {"gene": [{"text": "muc5AC gene", "start": 149, "end": 160}], "disease": [{"text": "metaplasia", "start": 189, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "In comparison to serum α-fetoprotein (AFP) level, which remains the gold standard for HCC diagnosis, high serum DKK1 levels have higher diagnostic value for HCC, especially for AFP-negative HCC, and can distinguish HCC from non-malignant chronic liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 86, "end": 89}], "disease": [{"text": "liver diseases", "start": 246, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.", "output": {"entities": {"gene": [{"text": "desmoplakin", "start": 65, "end": 76}], "disease": [{"text": "skin fragility/woolly hair syndrome", "start": 87, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "desmoplakin", "start": 65, "end": 76}, "tail": {"text": "skin fragility/woolly hair syndrome", "start": 87, "end": 122}}]}}, "schema": []}
{"input": "Individuals carrying one or more of genotypes rs1150226-AG and rs1176713-GG in HTR3A and rs17614942-AC in HTR3B showed a significant overall mean difference between ondansetron and placebo in drinks per drinking day (22. 50; effect size = 0. 867), percentage of heavy drinking days (220. 58%; effect size = 0. 780), and percentage of days abstinent (18. 18%; effect size = 0. 683).", "output": {"entities": {"gene": [{"text": "HTR3A", "start": 79, "end": 84}], "disease": [{"text": "heavy drinking", "start": 262, "end": 276}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HTR3A", "start": 79, "end": 84}, "tail": {"text": "heavy drinking", "start": 262, "end": 276}}]}}, "schema": []}
{"input": "Finally, a combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for SNPs in CACNA1C and in the region of NEK4-ITIH1-ITIH3-ITIH4.", "output": {"entities": {"gene": [{"text": "NEK4", "start": 149, "end": 153}], "disease": [{"text": "bipolar disorder", "start": 55, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NEK4", "start": 149, "end": 153}, "tail": {"text": "bipolar disorder", "start": 55, "end": 71}}]}}, "schema": []}
{"input": "To determine the role of MET and/or HGF in tumorigenesis, a fibrosarcoma line expressing high levels of MET protein and low levels of HGF/NK2 mRNA was stably transfected with a hammerhead ribozyme targeting MET.", "output": {"entities": {"gene": [{"text": "NK2", "start": 138, "end": 141}], "disease": [{"text": "fibrosarcoma", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Pharmacological inhibition of mitogen-activated protein kinase (MAPK) and phosphatidylinositol 3-kinase (PI3K) signaling pathways reduced the induction of VEGF and HIF-1 in response to bcl-2 overexpression in hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 155, "end": 159}], "disease": [{"text": "hypoxia", "start": 209, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "The transient expression of ETS-2 and PU. 1 cDNAs in mesothelioma cell lines resulted in an increase in the promoter activity of Bcl-xl and consequently in its mRNA and protein expression levels, whereas the transcriptional repressor Tel suppressed Bcl-xl transcription.", "output": {"entities": {"gene": [{"text": "Bcl-xl", "start": 129, "end": 135}], "disease": [{"text": "mesothelioma", "start": 53, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that hypoxia led to the upregulation of VEGF, NDRG1, and HIF-1α both at the mRNA and protein levels.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 59, "end": 63}], "disease": [{"text": "hypoxia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "FNDC3B is another novel partner fused to RARA in the t (3; 17) (q26; q21) variant of acute promyelocytic leukemia.", "output": {"entities": {"gene": [{"text": "FNDC3B", "start": 0, "end": 6}], "disease": [{"text": "acute promyelocytic leukemia", "start": 85, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FNDC3B", "start": 0, "end": 6}, "tail": {"text": "acute promyelocytic leukemia", "start": 85, "end": 113}}]}}, "schema": []}
{"input": "A combination of immunofluorescence and FISH was performed, applying antibodies directed against promyelocytic leukaemia body-related antigen and hTERT and using telomere peptide nucleic acid probes.", "output": {"entities": {"gene": [{"text": "FISH", "start": 40, "end": 44}], "disease": [{"text": "leukaemia", "start": 111, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Porokeratotic eccrine ostial and dermal duct nevus with a somatic homozygous or monoallelic variant of connexin 26.", "output": {"entities": {"gene": [{"text": "connexin 26", "start": 103, "end": 114}], "disease": [{"text": "Porokeratotic eccrine ostial and dermal duct nevus", "start": 0, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "connexin 26", "start": 103, "end": 114}, "tail": {"text": "Porokeratotic eccrine ostial and dermal duct nevus", "start": 0, "end": 50}}]}}, "schema": []}
{"input": "Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.", "output": {"entities": {"gene": [{"text": "GRID1", "start": 124, "end": 129}], "disease": [{"text": "depression", "start": 48, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRID1", "start": 124, "end": 129}, "tail": {"text": "depression", "start": 48, "end": 58}}]}}, "schema": []}
{"input": "We show here that mutations in the human flavin-containing monooxygenase isoform 3 gene (FMO3) impair N-oxygenation of xenobiotics and are responsible for the trimethylaminuria phenotype.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 89, "end": 93}], "disease": [{"text": "trimethylaminuria", "start": 159, "end": 176}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMO3", "start": 89, "end": 93}, "tail": {"text": "trimethylaminuria", "start": 159, "end": 176}}]}}, "schema": []}
{"input": "Basal and hypoxia-inducible VEGF expression was reduced at both mRNA and protein levels by 50%.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 28, "end": 32}], "disease": [{"text": "hypoxia", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The PLGA implantation reduced the marked loss of T2-weighted signal intensity seen at MRI in the injured discs and slowly decreased the disc height index (DHI) over the follow-up period.", "output": {"entities": {"gene": [{"text": "MRI", "start": 86, "end": 89}], "disease": [{"text": "height", "start": 141, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We suggest that the Factor V Leiden mutation be measured in all women on ERT or before beginning ERT to identify those heterozygous for the Factor V Leiden mutation (4%), in whom ERT is relatively or absolutely contraindicated because of increased risk for atherothrombosis and thromboembolism.", "output": {"entities": {"gene": [{"text": "ERT", "start": 73, "end": 76}], "disease": [{"text": "thromboembolism", "start": 278, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, treatment of the mutant mice with U0126, an inhibitor of mitogen-activated protein (MAP) kinase kinase 1 and 2 (MEK1/2) that blocks phosphorylation and activation of ERK1/2, significantly inhibits craniosynostosis.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 179, "end": 183}], "disease": [{"text": "craniosynostosis", "start": 210, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "TMEM25, REPS2 and Meis 1 expression was investigated by qRT-PCR, in triplicate, in 103 breast tumour biopsies procured in 1993-1994.", "output": {"entities": {"gene": [{"text": "REPS2", "start": 8, "end": 13}], "disease": [{"text": "breast tumour", "start": 87, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "REPS2", "start": 8, "end": 13}, "tail": {"text": "breast tumour", "start": 87, "end": 100}}]}}, "schema": []}
{"input": "TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS.", "output": {"entities": {"gene": [{"text": "TBK1", "start": 0, "end": 4}], "disease": [{"text": "ALS", "start": 209, "end": 212}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBK1", "start": 0, "end": 4}, "tail": {"text": "ALS", "start": 209, "end": 212}}]}}, "schema": []}
{"input": "One of the main early cellular events evoked by hypoxia is induction of hypoxia-inducible factor 1 (HIF-1) and subsequent upregulation of vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 174, "end": 178}], "disease": [{"text": "hypoxia", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Six other neurotransmitter genes were included in the regression equation-cholinergic, nicotinic, alpha 4 receptor (CHNRA4), adenosine A2A receptor (ADOA2A), nitric oxide synthase (NOS3), NMDAR1, GRIN2B, and GABRB3.", "output": {"entities": {"gene": [{"text": "NMDAR1", "start": 188, "end": 194}], "disease": [{"text": "regression", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that genomic instability resulting from XPC silencing results in activation of AKT1 and subsequently NOX1 to induce ROS generation, mtDNA deletions, and neoplastic transformation in human keratinocytes.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 103, "end": 107}], "disease": [{"text": "genomic instability", "start": 29, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "While lack of omentin may be related to the pathogenesis of obesity-related cardiovascular diseases, its effect in vasculature is largely unknown.", "output": {"entities": {"gene": [{"text": "omentin", "start": 14, "end": 21}], "disease": [{"text": "cardiovascular diseases", "start": 76, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Speech, prosody, and voice characteristics of a mother and daughter with a 7; 13 translocation affecting FOXP2.", "output": {"entities": {"gene": [{"text": "FOXP2", "start": 105, "end": 110}], "disease": [{"text": "translocation", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We investigated the individual and combined effects of maternal polymorphisms encoding the aromatic hydrocarbon receptor (AHR; rs2066853), cytochrome P450 (CYP) 1A1 (rs1048963), and the X-ray-complementing gene 1 (XRCC1; rs1799782) and prenatal smoking in relation to infant birth size.", "output": {"entities": {"gene": [{"text": "AHR", "start": 122, "end": 125}], "disease": [{"text": "smoking", "start": 245, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "In this study, we further demonstrate that IGF-II/M6PR overexpression, resulting from cDNA transfection of JEG-3 choriocarcinoma cells, leads to a decreased cellular growth rate in vitro and decreased tumor growth in nude mice.", "output": {"entities": {"gene": [{"text": "M6PR", "start": 50, "end": 54}], "disease": [{"text": "choriocarcinoma", "start": 113, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We report the first case of autosomal recessive mutations in NCF4, the gene encoding p40 (phox), in a boy who presented with granulomatous colitis.", "output": {"entities": {"gene": [{"text": "p40", "start": 85, "end": 88}], "disease": [{"text": "granulomatous colitis", "start": 125, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We hypothesised that the risk allele at the type 2 diabetes-associated missense polymorphism rs13266634 (R325W) in SLC30A8 would predict proinsulin levels in individuals at risk of type 2 diabetes and may modulate response to preventive interventions.", "output": {"entities": {"gene": [{"text": "SLC30A8", "start": 115, "end": 122}], "disease": [{"text": "type 2 diabetes", "start": 44, "end": 59}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SLC30A8", "start": 115, "end": 122}, "tail": {"text": "type 2 diabetes", "start": 44, "end": 59}}]}}, "schema": []}
{"input": "The candidate genes were selected based on their functions, including insulin resistance (APM1, CD36, HSD11B1), oxidative stress (CYBA, GPX1, GSTMs), steroid hormone (ESR1, ESR2, HSD11B2), renal functions (PTGS2, KLK1, NPHS1, NPHS2, SGK, SLC12A1, PTGES), and others related to cardiovascular physiology (GJA4, NOS1, NTRK3, P2RX4, SPP1, ALDH2).", "output": {"entities": {"gene": [{"text": "SPP1", "start": 330, "end": 334}], "disease": [{"text": "insulin resistance", "start": 70, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "HCC cells infected with si-AFAP1-AS1 were injected into nude mice to investigate the effect of AFAP1-AS1 on the tumorigenesis in vivo.", "output": {"entities": {"gene": [{"text": "AFAP1-AS1", "start": 27, "end": 36}], "disease": [{"text": "tumorigenesis", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Serum EPO concentration is related primarily to the rate of erythrocyte production and, under the stimulation of hypoxia, increases exponentially as hemoglobin (Hb) decreased.", "output": {"entities": {"gene": [{"text": "EPO", "start": 6, "end": 9}], "disease": [{"text": "hemoglobin", "start": 149, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We show that secretion of vascular endothelial growth factor (VEGF), a protein with multiple disulfide bonds, was indeed impeded under hypoxia and was partially restored by artificial increase of oxidizing equivalents with diamide.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 62, "end": 66}], "disease": [{"text": "hypoxia", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "By comparison with those in normal subjects, the numbers of VIP-immunoreactive nerves were not significantly decreased in patients with asthma and chronic bronchitis, but NPY-immunoreactive nerves were significantly decreased in the smooth muscle of these latter two groups of patients (p & lt; 0. 005).", "output": {"entities": {"gene": [{"text": "NPY", "start": 171, "end": 174}], "disease": [{"text": "chronic bronchitis", "start": 147, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY", "start": 171, "end": 174}, "tail": {"text": "chronic bronchitis", "start": 147, "end": 165}}]}}, "schema": []}
{"input": "Gitelman' s syndrome, caused by loss of function mutations in the Na-Cl cotransporter of the distal convoluted tubule (NCCT), features inherited hypokalemic alkalosis with so-called \" normal \" blood pressure.", "output": {"entities": {"gene": [{"text": "NCCT", "start": 119, "end": 123}], "disease": [{"text": "blood pressure", "start": 193, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "On the basis of our results, we conclude that GATA6 is an important regulator of uPA gene expression, and the dysregulated expression of GATA6 contributes to colorectal tumorigenesis and tumor invasion.", "output": {"entities": {"gene": [{"text": "GATA6", "start": 46, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 169, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.", "output": {"entities": {"gene": [{"text": "p63", "start": 49, "end": 52}], "disease": [{"text": "adhesion", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Lack of somatic mutation in the coding sequence of SIAH1 in tumors hemizygous for this candidate tumor suppressor gene.", "output": {"entities": {"gene": [{"text": "SIAH1", "start": 51, "end": 56}], "disease": [{"text": "somatic mutation", "start": 8, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "In MCF10DCIS xenograft tumors, CD44 knockdown decreased tumor size and weight as well as invasion markers.", "output": {"entities": {"gene": [{"text": "CD44", "start": 31, "end": 35}], "disease": [{"text": "weight", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The cooperative action between T cell activation and MKK6-mediated DC activation by Ni played an important role in the development of Ni allergy.", "output": {"entities": {"gene": [{"text": "MKK6", "start": 53, "end": 57}], "disease": [{"text": "allergy", "start": 137, "end": 144}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MKK6", "start": 53, "end": 57}, "tail": {"text": "allergy", "start": 137, "end": 144}}]}}, "schema": []}
{"input": "Cases were categorized as likely sporadic (MLH1/PMS2 loss, evidence of MLH1 promoter hypermethylation) or putative LS (PLS) (loss of MSH2/MSH6, MSH6, or PMS2).", "output": {"entities": {"gene": [{"text": "MSH6", "start": 138, "end": 142}], "disease": [{"text": "sporadic", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "This analysis uncovered five ERMS samples with uniparental disomy (UPD) at the HRAS locus, two of which harbored HRAS mutations.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 79, "end": 83}], "disease": [{"text": "uniparental disomy", "start": 47, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "This would promote systemic protein C activation and early cessation of thrombin generation within a developing hemostatic clot, thereby explaining the phenotype of posttraumatic bleeding observed within this family.", "output": {"entities": {"gene": [{"text": "protein C", "start": 28, "end": 37}], "disease": [{"text": "bleeding", "start": 179, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "As mediators of the stress response, corticotropin-releasing factor (CRF) and its receptors (CRFR1 and CRFR2) have been implicated in the propensity for developing stress-related mood disorders.", "output": {"entities": {"gene": [{"text": "CRFR2", "start": 103, "end": 108}], "disease": [{"text": "mood disorders", "start": 179, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRFR2", "start": 103, "end": 108}, "tail": {"text": "mood disorders", "start": 179, "end": 193}}]}}, "schema": []}
{"input": "Additionally, we found that gliomas contained various types of non-neoplastic cells expressing MGMT, including lymphocytes, vascular endothelial cells, and macrophages/microglias, which contribute to overall MGMT expression detected in tumor homogenates, and thus result in overestimation of tumor MGMT expression.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 95, "end": 99}], "disease": [{"text": "non-neoplastic", "start": 63, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The Kaplan-Meier survival curves revealed that decreasing GPR37 expression was associated with poor prognosis in HCC patients, while in vitro, following the release from serum starvation of HuH7 HCC cell, the expression of GPR37 was downregulated.", "output": {"entities": {"gene": [{"text": "HCC", "start": 113, "end": 116}], "disease": [{"text": "starvation", "start": 176, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "However, the overall PKR level was much lower in tumor tissues than that in non-tumor tissues, irrespective of HBV carrier status or serum viral load.", "output": {"entities": {"gene": [{"text": "PKR", "start": 21, "end": 24}], "disease": [{"text": "viral load", "start": 139, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In mutant mice, abnormalities of the SCF/c-kit gene expression, such as gene deletion, point mutation, alternative splicing defect, lead to different types of spermatogenesis alterations (e. g.", "output": {"entities": {"gene": [{"text": "SCF", "start": 37, "end": 40}], "disease": [{"text": "abnormalities", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Whole-genome searches have identified nicotinic acetylcholine receptor alpha5-alpha3-beta4 subunit gene variants that are associated with smoking.", "output": {"entities": {"gene": [{"text": "beta4", "start": 85, "end": 90}], "disease": [{"text": "smoking", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited syndrome linked to DNA-mismatch-repair (MMR) gene defects, which also account for microsatellite instability (MSI) in tumour tissues.", "output": {"entities": {"gene": [{"text": "MMR", "start": 117, "end": 120}], "disease": [{"text": "microsatellite instability", "start": 159, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "ApoE and beta-amyloid (Abeta) 1-40 accumulated at 30 DPL in hE4 mice.", "output": {"entities": {"gene": [{"text": "hE4", "start": 60, "end": 63}], "disease": [{"text": "amyloid", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "proinsulin", "start": 42, "end": 52}], "disease": [{"text": "hyperproinsulinemia", "start": 37, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "proinsulin", "start": 42, "end": 52}, "tail": {"text": "hyperproinsulinemia", "start": 37, "end": 56}}]}}, "schema": []}
{"input": "Folic acid (FA), vitamin B6, and B12 supplementation has been previously shown to reduce increased levels of homocysteine and decrease migraine symptoms.", "output": {"entities": {"gene": [{"text": "B12", "start": 33, "end": 36}], "disease": [{"text": "migraine", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "These changes in RASF appeared to be related to reduced tumor necrosis factor-α secretion, G0/G1 arrest, and altered expression of various proteins including those involved in angiogenesis (matrix metalloproteinase 9, nitric oxide synthase trafficking), hypoxia (hypoxia-inducible factor-α, thioredoxin domain containing 5), proliferation (chromosome 10 open reading frame 116), and inflammation [CCL7, chemokine (C-X-C motif) ligand 9, interleukin 26].", "output": {"entities": {"gene": [{"text": "chromosome 10 open reading frame", "start": 340, "end": 372}], "disease": [{"text": "inflammation", "start": 383, "end": 395}]}, "relations": {}}, "schema": []}
{"input": "In Caucasians, SLC22A12 SNPs were associated with the body mass index (BMI).", "output": {"entities": {"gene": [{"text": "SLC22A12", "start": 15, "end": 23}], "disease": [{"text": "body mass index", "start": 54, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These data show that DNMT mRNA expression was altered in suicide brain, and this change in expression in the frontopolar cortex was associated with increased methylation of a gene whose mRNA expression has previously been shown to be reduced.", "output": {"entities": {"gene": [{"text": "DNMT", "start": 21, "end": 25}], "disease": [{"text": "suicide", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "AAV-mediated administration of myostatin pro-peptide mutant in adult Ldlr null mice reduces diet-induced hepatosteatosis and arteriosclerosis.", "output": {"entities": {"gene": [{"text": "AAV", "start": 0, "end": 3}], "disease": [{"text": "arteriosclerosis", "start": 125, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Pro-alpha1 (I) collagen mRNA was highly expressed in both desmoid tumors and HSF at approximately the same level, whereas pro-alpha1 (III) collagen mRNA was more abundant in some of the desmoid tumors than the normal skin fibroblastic cell lines.", "output": {"entities": {"gene": [{"text": "HSF", "start": 77, "end": 80}], "disease": [{"text": "desmoid tumors", "start": 58, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.", "output": {"entities": {"gene": [{"text": "hPer2", "start": 3, "end": 8}], "disease": [{"text": "familial advanced sleep phase syndrome", "start": 42, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hPer2", "start": 3, "end": 8}, "tail": {"text": "familial advanced sleep phase syndrome", "start": 42, "end": 80}}]}}, "schema": []}
{"input": "Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.", "output": {"entities": {"gene": [{"text": "MGC10986", "start": 116, "end": 124}], "disease": [{"text": "breast cancer", "start": 256, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MGC10986", "start": 116, "end": 124}, "tail": {"text": "breast cancer", "start": 256, "end": 269}}]}}, "schema": []}
{"input": "Histochemistry study and real-time PCR further confirmed that GADD45beta staining in HCC was significantly decreased when compared to surrounding non-neoplastic liver tissue.", "output": {"entities": {"gene": [{"text": "HCC", "start": 85, "end": 88}], "disease": [{"text": "non-neoplastic", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "TIM gene family and their role in atopic diseases.", "output": {"entities": {"gene": [{"text": "TIM", "start": 0, "end": 3}], "disease": [{"text": "atopic", "start": 34, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The findings of this study expand the clinical and pathologic spectrum of DGP associated with POMGNT2 variants from the severest Walker-Warburg syndrome to the mildest LGMD phenotypes.", "output": {"entities": {"gene": [{"text": "POMGNT2", "start": 94, "end": 101}], "disease": [{"text": "Walker-Warburg syndrome", "start": 129, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POMGNT2", "start": 94, "end": 101}, "tail": {"text": "Walker-Warburg syndrome", "start": 129, "end": 152}}]}}, "schema": []}
{"input": "Emerging evidence has demonstrated that Neutrophil gelatinase-associated lipocalin (NGAL) is up-regulated in multiple malignancies, including oesophagus cancer, and plays a critical role in tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 84, "end": 88}], "disease": [{"text": "tumorigenesis", "start": 190, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "As angiopoietin-like protein 2 (ANGPTL2) mediates inflammation and inflammation-associated carcinogenesis, we investigated the functional and clinical significance of ANGPTL2 in human gastric cancer (GC).", "output": {"entities": {"gene": [{"text": "ANGPTL2", "start": 32, "end": 39}], "disease": [{"text": "inflammation", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to analyze the expression of PAP and the effect of TJ-10 in a spontaneous chronic pancreatitis model.", "output": {"entities": {"gene": [{"text": "PAP", "start": 55, "end": 58}], "disease": [{"text": "chronic pancreatitis", "start": 100, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "ET-1 also increases hypoxia-inducible factor-1alpha (HIF-1alpha) accumulation and activates the HIF-1 transcription complex under both normoxic and hypoxic conditions, suggesting a role for HIF-1 in the induction of VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 216, "end": 220}], "disease": [{"text": "hypoxic", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Ultrasound-based three-dimensional motion analysis of arm swing during gait is a suitable tool to quantify even subtle hypokinesia in mildly affected PINK1 mutation carriers, which tends to be easily overlooked on the less affected body side during clinical examination.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 150, "end": 155}], "disease": [{"text": "hypokinesia", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "To test this hypothesis, DNA samples from 112 cases of renal cell cancer and healthy controls (n = 180) were analyzed by PCR-RFLP to determine the genotypic frequency of six different polymorphic loci on five DNA repair genes (XRCC1, XPC, ERCC1, XRCC3, and XRCC7).", "output": {"entities": {"gene": [{"text": "ERCC1", "start": 239, "end": 244}], "disease": [{"text": "renal cell cancer", "start": 55, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Treatment of control clones with apoptotic stimuli (i. e., cycloheximide/tumor necrosis factor alpha (TNF-alpha), anti-Fas antibody, or serum starvation) resulted in a massive cell death by apoptosis.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 102, "end": 111}], "disease": [{"text": "starvation", "start": 142, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Forced expression of murine IL-17E induces growth retardation, jaundice, a Th2-biased response, and multiorgan inflammation in mice.", "output": {"entities": {"gene": [{"text": "IL-17E", "start": 28, "end": 34}], "disease": [{"text": "growth retardation", "start": 43, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In zebrafish, mutant MYL4 leads to disruption of sarcomeric structure, atrial enlargement and electrical abnormalities associated with human AF.", "output": {"entities": {"gene": [{"text": "MYL4", "start": 21, "end": 25}], "disease": [{"text": "atrial enlargement", "start": 71, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "This chapter presents a synopsis of translational clinical studies relating BCRP expression in leukemias, lymphomas, and a variety of solid tumors with clinical outcome.", "output": {"entities": {"gene": [{"text": "BCRP", "start": 76, "end": 80}], "disease": [{"text": "lymphomas", "start": 106, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "ECE-1-/-term embryos exhibited craniofacial and cardiac abnormalities virtually identical to the defects seen in ET-1 and endothelin A receptor (ETA)-deficient embryos.", "output": {"entities": {"gene": [{"text": "ECE-1", "start": 0, "end": 5}], "disease": [{"text": "cardiac abnormalities", "start": 48, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ECE-1", "start": 0, "end": 5}, "tail": {"text": "cardiac abnormalities", "start": 48, "end": 69}}]}}, "schema": []}
{"input": "NOS inhibition by L-NAME increased basal frequency and attenuated the positive chronotropic effect of beta-adrenergic stimulation in the HF group (P & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "NOS", "start": 0, "end": 3}], "disease": [{"text": "HF", "start": 137, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS", "start": 0, "end": 3}, "tail": {"text": "HF", "start": 137, "end": 139}}]}}, "schema": []}
{"input": "Data were correlated to the severity of neurological symptoms and the integrity of dopaminergic neurons measured via dopamine transporter binding.", "output": {"entities": {"gene": [{"text": "dopamine transporter", "start": 117, "end": 137}], "disease": [{"text": "neurological symptoms", "start": 40, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Thus, our results demonstrate that a significant portion of AVMD patients (18%) carry point mutations in peripherin/RDS, suggesting that this gene is frequently involved in the pathogenesis of this macular disorder.", "output": {"entities": {"gene": [{"text": "RDS", "start": 116, "end": 119}], "disease": [{"text": "AVMD", "start": 60, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDS", "start": 116, "end": 119}, "tail": {"text": "AVMD", "start": 60, "end": 64}}]}}, "schema": []}
{"input": "Although bone morphogenetic protein (BMP) families are crucial mediators in some types of cancer, whether BMP8B is involved in regulating the growth and apoptosis of pancreatic cancer cells and the progression of pancreatic cancer is not clear.", "output": {"entities": {"gene": [{"text": "BMP8B", "start": 106, "end": 111}], "disease": [{"text": "cancer", "start": 90, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The results suggest a role for aberrantly-regulated PTGDS mRNA expression in rapid-cycling bipolar disorder.", "output": {"entities": {"gene": [{"text": "PTGDS", "start": 52, "end": 57}], "disease": [{"text": "bipolar disorder", "start": 91, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTGDS", "start": 52, "end": 57}, "tail": {"text": "bipolar disorder", "start": 91, "end": 107}}]}}, "schema": []}
{"input": "Phosphoserine aminotransferase 1 (PSAT1) is over-expressed in many carcinoma tissues, however little is known regarding its expression and function in esophageal carcinogenesis.", "output": {"entities": {"gene": [{"text": "PSAT1", "start": 34, "end": 39}], "disease": [{"text": "esophageal", "start": 151, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Coexistence of factor V Leiden and primary antiphospholipid syndrome: a patient with recurrent myocardial infarctions and thrombocytopenia.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 15, "end": 30}], "disease": [{"text": "thrombocytopenia", "start": 122, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "A total of 105 cases were investigated for A20 mutation/deletion, ABIN-1/2 mutation, MALT1 and IGH involved translocation.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 85, "end": 90}], "disease": [{"text": "translocation", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "DN2 cells and DN3 cells secreted less VEGF than pCEP4-transfected TMK-1 cells when cultured in nonhypoxic or hypoxic conditions (e. g., DN2 versus pCEP4 in nonhypoxic conditions: 645 pg of VEGF/10 (6) cells versus 1591 pg of VEGF/10 (6) cells, difference = 946 pg of VEGF/10 (6) cells [95% confidence interval [CI] = 640 to 1251 pg of VEGF/10 (6) cells; P =. 006]; DN2 versus pCEP4 in hypoxic conditions: 785 pg of VEGF/10 (6) cells versus 2807 pg of VEGF/10 (6) cells, difference = 2022 pg of VEGF/10 (6) cells [95% CI = 1871 to 2152 pg of VEGF/10 (6) cells; P <. 001]).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 38, "end": 42}], "disease": [{"text": "hypoxic", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Pro-apoptotic Bcl2 family members, Bcl-2/adenovirus E1B 19 kDa interacting protein (BNIP3) and Bad levels, were significantly increased in obese rat hearts, whereas anti-apoptotic Bcl2 family member, Bcl2 level, was significantly decreased.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 84, "end": 89}], "disease": [{"text": "adenovirus", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In randomized trials, pharmacological blockade at the level of the cannabinoid receptor 1 (CNR1) receptor not only facilitates weight reduction, but also improves insulin sensitivity and clinical measures of lipid homeostasis.", "output": {"entities": {"gene": [{"text": "CNR1", "start": 91, "end": 95}], "disease": [{"text": "weight reduction", "start": 127, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "On the cellular level, TFLLRN and thrombin prompted HT-29 cell migration and matrix adhesion by a PKCepsilon-dependent mechanism as concluded because of the inhibition of PAR1-mediated effects by the PKC inhibitor bisindolylmaleimide I and the PKCepsilon translocation inhibitory peptide EAVSLKPT but not by the PKC inhibitor Gö 6976.", "output": {"entities": {"gene": [{"text": "PAR1", "start": 171, "end": 175}], "disease": [{"text": "adhesion", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Mdr2 (-/-) mice lacking IKK2 in hepatocytes developed spontaneously a severe liver disease characterized by cholestasis, major hyperbilirubinemia and severe to end-stage fibrosis, which caused muscle wasting, loss of body weight, lethargy and early spontaneous death.", "output": {"entities": {"gene": [{"text": "Mdr2", "start": 0, "end": 4}], "disease": [{"text": "muscle wasting", "start": 193, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure.", "output": {"entities": {"gene": [{"text": "KLHL3", "start": 33, "end": 38}], "disease": [{"text": "blood pressure", "start": 152, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "We have developed methodology that allows comparison of the mean corpuscular hemoglobin (MCH) of fetal hemoglobin (HbF)-containing red cells (F cells) with the MCH of non-F cells from the same individual.", "output": {"entities": {"gene": [{"text": "MCH", "start": 89, "end": 92}], "disease": [{"text": "mean corpuscular hemoglobin", "start": 60, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "A novel, dominant Val162Met mutation within the fourth EGF-like domain of CRB1 cosegregates with the PPCRA phenotype.", "output": {"entities": {"gene": [{"text": "CRB1", "start": 74, "end": 78}], "disease": [{"text": "PPCRA", "start": 101, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRB1", "start": 74, "end": 78}, "tail": {"text": "PPCRA", "start": 101, "end": 106}}]}}, "schema": []}
{"input": "Genes deregulated at the DNA and mRNA level included well-known cancer genes partly already linked to melanoma (RAS genes, PTEN, AURKA, MAPK inhibitors Sprouty/Spred), but also novel candidates like SIPA1 (a Rap1GAP).", "output": {"entities": {"gene": [{"text": "AURKA", "start": 129, "end": 134}], "disease": [{"text": "melanoma", "start": 102, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AURKA", "start": 129, "end": 134}, "tail": {"text": "melanoma", "start": 102, "end": 110}}]}}, "schema": []}
{"input": "As in the white matter, the mean GFAP mRNA levels were decreased in individuals with schizophrenia and bipolar disorder as compared with the unaffected controls, however the difference failed to reach statistical significance.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 33, "end": 37}], "disease": [{"text": "schizophrenia", "start": 85, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GFAP", "start": 33, "end": 37}, "tail": {"text": "schizophrenia", "start": 85, "end": 98}}]}}, "schema": []}
{"input": "A family with nine children, three with male pseudohermaphroditism due to testicular deficiency of 17-ketosteroid reductase activity (17-KSR) and four with congenital hypothyroidism is presented.", "output": {"entities": {"gene": [{"text": "KSR", "start": 137, "end": 140}], "disease": [{"text": "male pseudohermaphroditism", "start": 40, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We therefore screened a series of 62 cases of seborrheic keratosis for FGFR3 mutations.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 71, "end": 76}], "disease": [{"text": "seborrheic keratosis", "start": 46, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 71, "end": 76}, "tail": {"text": "seborrheic keratosis", "start": 46, "end": 66}}]}}, "schema": []}
{"input": "We studied the roles of JMJD1A and its target gene ADM in the growth of hepatocellular carcinomas (HCCs) and breast cancer cells under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "ADM", "start": 51, "end": 54}], "disease": [{"text": "hypoxic", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We investigate the influence of plasma BA concentrations and an ABCB11 polymorphism associated with lower transporter expression on viral load and SVR.", "output": {"entities": {"gene": [{"text": "ABCB11", "start": 64, "end": 70}], "disease": [{"text": "viral load", "start": 132, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.", "output": {"entities": {"gene": [{"text": "norrin", "start": 52, "end": 58}], "disease": [{"text": "Norrie disease", "start": 93, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "norrin", "start": 52, "end": 58}, "tail": {"text": "Norrie disease", "start": 93, "end": 107}}]}}, "schema": []}
{"input": "FLs characteristically have rearrangements in the IgH and BCL2 genes resulting from the reciprocal t (14; 18) (q32; q21) translocation.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 58, "end": 62}], "disease": [{"text": "translocation", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Augmentation of disease risk was found for the complex genotype HM74 [A, any] + MCHR1 [T, any] + MCHR2 [C, any] which conferred an OR maximal for the combined diagnostic category of schizophrenia plus bipolar disorder (1. 70, p = 0. 003), carried by 30% of the cases.", "output": {"entities": {"gene": [{"text": "HM74", "start": 64, "end": 68}], "disease": [{"text": "bipolar disorder", "start": 201, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HM74", "start": 64, "end": 68}, "tail": {"text": "bipolar disorder", "start": 201, "end": 217}}]}}, "schema": []}
{"input": "At E13 myotilin was expressed in a variety of tissues, including the nervous system, lung, liver and kidney, but upon organ differentiation expression became more restricted.", "output": {"entities": {"gene": [{"text": "myotilin", "start": 7, "end": 15}], "disease": [{"text": "nervous system", "start": 69, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Mutations have been identified in the TAZ (G4. 5) gene in patients with BTHS.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 38, "end": 41}], "disease": [{"text": "BTHS", "start": 72, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TAZ", "start": 38, "end": 41}, "tail": {"text": "BTHS", "start": 72, "end": 76}}]}}, "schema": []}
{"input": "A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism.", "output": {"entities": {"gene": [{"text": "c-kit protooncogene", "start": 36, "end": 55}], "disease": [{"text": "piebaldism", "start": 88, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "c-kit protooncogene", "start": 36, "end": 55}, "tail": {"text": "piebaldism", "start": 88, "end": 98}}]}}, "schema": []}
{"input": "Altogether, the results of this study raised the possibility of interaction between HIF-1α and VEGF, in mediating the neovascularization response induced by the prolonged hypoxic state brought about by closed eye CL wear.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 95, "end": 99}], "disease": [{"text": "hypoxic", "start": 171, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We examined 209 single-nucleotide polymorphisms (SNPs) covering 19 circadian genes (ADCYAP1, ARNTL, ARNTL2, BHLHB2, BHLHB3, CLOCK, CRY1, CRY2, CSNK1E, DBP, NPAS2, NR1D1, PER1, PER2, PER3, RORA, TIMELESS, VIP, and VIPR2) in a sample of 534 MD patients (335 with unipolar major mood depression (MDD) and 199 with bipolar disorder (BD)) and 440 community-based screened controls.", "output": {"entities": {"gene": [{"text": "ARNTL2", "start": 100, "end": 106}], "disease": [{"text": "depression", "start": 281, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "The Venezuelan kindred is special for having patients with digenic novel nucleotide changes, a KRT86 mutation associated with monilethrix and a KRT81 variant of unknown clinical significance.", "output": {"entities": {"gene": [{"text": "KRT86", "start": 95, "end": 100}], "disease": [{"text": "monilethrix", "start": 126, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT86", "start": 95, "end": 100}, "tail": {"text": "monilethrix", "start": 126, "end": 137}}]}}, "schema": []}
{"input": "To evaluate JNK2 in this manner, we used the highly metastatic 4T1. 2 mammary tumor cells.", "output": {"entities": {"gene": [{"text": "JNK2", "start": 12, "end": 16}], "disease": [{"text": "mammary tumor", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We concluded that detecting BMI1 is helpful for predicting the survival in AML patients and monitoring the aggressiveness and progression in patients with CML.", "output": {"entities": {"gene": [{"text": "BMI1", "start": 28, "end": 32}], "disease": [{"text": "aggressiveness", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We investigated the genetic influence on diabetes progression by constructing a genetic risk score (GRS) of all 48 validated type 2 diabetes susceptibility variants, a GRS of 11 variants linked to β-cell function and a GRS of 3 variants linked to insulin sensitivity and assessed the association between number of risk alleles and time from diagnosis until first redeemed prescription of either any glucose lowering drug or an insulin drug.", "output": {"entities": {"gene": [{"text": "GRS", "start": 100, "end": 103}], "disease": [{"text": "insulin sensitivity", "start": 247, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Genetic p23 knockdown was found to result in decreases in steady-state PHD2 protein and activity and reduced susceptibility to MPP & lt; sup & gt; + & lt;/sup & gt; neurotoxicity.", "output": {"entities": {"gene": [{"text": "p23", "start": 8, "end": 11}], "disease": [{"text": "neurotoxicity", "start": 165, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p23", "start": 8, "end": 11}, "tail": {"text": "neurotoxicity", "start": 165, "end": 178}}]}}, "schema": []}
{"input": "In this study, 94 unrelated familial prostate cancer cases from the University of Michigan Prostate Cancer Genetics Project (n & #160; = & #160; 54) and Johns Hopkins University (n & #160; = & #160; 40) were subjected to targeted next-generation sequencing of the exons, including UTRs, of NBN.", "output": {"entities": {"gene": [{"text": "NBN", "start": 290, "end": 293}], "disease": [{"text": "familial prostate cancer", "start": 28, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NBN", "start": 290, "end": 293}, "tail": {"text": "familial prostate cancer", "start": 28, "end": 52}}]}}, "schema": []}
{"input": "Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.", "output": {"entities": {"gene": [{"text": "HGSNAT", "start": 122, "end": 128}], "disease": [{"text": "Sanfilippo syndrome type C", "start": 0, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGSNAT", "start": 122, "end": 128}, "tail": {"text": "Sanfilippo syndrome type C", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "Their sensitivity and specificity to detect HPV in LBC, their predictive values of histopathologic CIN2-3 in follow-up punch biopsies and CIN2-3 regression in the subsequent cones was assessed.", "output": {"entities": {"gene": [{"text": "LBC", "start": 51, "end": 54}], "disease": [{"text": "regression", "start": 145, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Promoter hypermethylation of the RIZ1 gene was found in 31 (69%) of 45 gastric carcinoma tissues and in 3 (21%) of 14 corresponding non-neoplastic mucosae, the incidence being significantly different (p = 0. 002).", "output": {"entities": {"gene": [{"text": "RIZ1", "start": 33, "end": 37}], "disease": [{"text": "non-neoplastic", "start": 132, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "This may be due to upregulation of VEGF under hypoxia, as treatment of cells with the VEGF receptor antagonist CPO-P11 attenuated hypoxia-induced nestin expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 35, "end": 39}], "disease": [{"text": "hypoxia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The risk for thromboembolic disease in lupus anticoagulant patients due to pathways involving P-selectin and CD154.", "output": {"entities": {"gene": [{"text": "P-selectin", "start": 94, "end": 104}], "disease": [{"text": "lupus anticoagulant", "start": 39, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "To test the association between insulinlike growth factor 2 (IGF2) ApaI and IGF2 receptor (IGF2R) Gly1619Arg gene polymorphisms and idiopathic male infertility.", "output": {"entities": {"gene": [{"text": "IGF2R", "start": 91, "end": 96}], "disease": [{"text": "male infertility", "start": 143, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We conclude that elevated sCD40L promotes platelet-leukocyte activation and recruitment and neointima formation after arterial injury, potentially through enhancement of platelet P-selectin and leukocyte Mac-1 expression and oxidative activity.", "output": {"entities": {"gene": [{"text": "Mac-1", "start": 204, "end": 209}], "disease": [{"text": "arterial injury", "start": 118, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The present study shows that ERBB3 does not play a major role in conferring susceptibility to schizophrenia in the Japanese population.", "output": {"entities": {"gene": [{"text": "ERBB3", "start": 29, "end": 34}], "disease": [{"text": "schizophrenia", "start": 94, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERBB3", "start": 29, "end": 34}, "tail": {"text": "schizophrenia", "start": 94, "end": 107}}]}}, "schema": []}
{"input": "Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features.", "output": {"entities": {"gene": [{"text": "VAMP2", "start": 55, "end": 60}], "disease": [{"text": "axial hypotonia", "start": 149, "end": 164}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VAMP2", "start": 55, "end": 60}, "tail": {"text": "axial hypotonia", "start": 149, "end": 164}}]}}, "schema": []}
{"input": "Histochemical examination of the tumors revealed that AAV-HGFK1 + Ad-p53 combinatorial treatment not only induced necrosis and apoptosis in the tumors but also suppressed tumor angiogenesis.", "output": {"entities": {"gene": [{"text": "AAV", "start": 54, "end": 57}], "disease": [{"text": "tumor angiogenesis", "start": 171, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "While the majority of carcinoma patients were anemic, no relationship between the level of colon tissue ferritin and TfR1 and the systemic parameters of iron metabolism was evident.", "output": {"entities": {"gene": [{"text": "TfR1", "start": 117, "end": 121}], "disease": [{"text": "carcinoma", "start": 22, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that CLU may regulate aggressive behavior of human CRCC cells through modulating ERK1/2 signaling and MMP-9 expression.", "output": {"entities": {"gene": [{"text": "CLU", "start": 22, "end": 25}], "disease": [{"text": "aggressive behavior", "start": 39, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS.", "output": {"entities": {"gene": [{"text": "EFNB1", "start": 17, "end": 22}], "disease": [{"text": "CFNS", "start": 78, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFNB1", "start": 17, "end": 22}, "tail": {"text": "CFNS", "start": 78, "end": 82}}]}}, "schema": []}
{"input": "Patients with the N34S mutation presented with earlier symptom onset and more dilatation of the main pancreatic duct, followed by more frequent surgical and/or endoscopic intervention and pancreatic cancer development than those without SPINK1 mutations.", "output": {"entities": {"gene": [{"text": "SPINK1", "start": 237, "end": 243}], "disease": [{"text": "dilatation", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In patients affected with HGPPS, we identified mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse.", "output": {"entities": {"gene": [{"text": "ROBO3", "start": 64, "end": 69}], "disease": [{"text": "HGPPS", "start": 26, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ROBO3", "start": 64, "end": 69}, "tail": {"text": "HGPPS", "start": 26, "end": 31}}]}}, "schema": []}
{"input": "Here we review recent advances in the role of ABCA1 and ABCG1 in HDL metabolism, macrophage cholesterol efflux, inflammation, and atherogenesis.", "output": {"entities": {"gene": [{"text": "ABCG1", "start": 56, "end": 61}], "disease": [{"text": "inflammation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "METHODS: The expression levels of Dicer, Drosha, and Exportin 5 were determined using Real-Time qPCR in 40 patients with urothelial carcinoma of the bladder.", "output": {"entities": {"gene": [{"text": "Exportin 5", "start": 53, "end": 63}], "disease": [{"text": "carcinoma of the bladder", "start": 132, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The JARID1C-regulated genes SCN2A, CACNA1H, BDNF, and SLC18A1 have previously been associated with autism and cognitive dysfunction.", "output": {"entities": {"gene": [{"text": "JARID1C", "start": 4, "end": 11}], "disease": [{"text": "autism", "start": 99, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JARID1C", "start": 4, "end": 11}, "tail": {"text": "autism", "start": 99, "end": 105}}]}}, "schema": []}
{"input": "We screened PAX4 coding sequences in 46 MODY probands without mutation in known MODY genes and in 74 nondiabetic controls using PCR-single-stranded conformational polymorphism analysis followed by direct sequencing.", "output": {"entities": {"gene": [{"text": "PAX4", "start": 12, "end": 16}], "disease": [{"text": "MODY", "start": 40, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX4", "start": 12, "end": 16}, "tail": {"text": "MODY", "start": 40, "end": 44}}]}}, "schema": []}
{"input": "In addition, blockade of phosphatidylinositiol 3-kinase (wortmannin) or MAPK pathways with PD 98059 or UO 126 (selective for MAPK kinse 1 and 2) prevented the steroid-induced translocation of Ser-P-ANXA1 to the cell surface.", "output": {"entities": {"gene": [{"text": "ANXA1", "start": 198, "end": 203}], "disease": [{"text": "translocation", "start": 175, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "cIAP-2 is an important regulator of apoptosis in bladder cancer and its overexpression may make tumours less susceptible to therapy involving apoptosis.", "output": {"entities": {"gene": [{"text": "cIAP-2", "start": 0, "end": 6}], "disease": [{"text": "bladder cancer", "start": 49, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cIAP-2", "start": 0, "end": 6}, "tail": {"text": "bladder cancer", "start": 49, "end": 63}}]}}, "schema": []}
{"input": "The present study investigated the possible relationships between the genotypes of COMT Val158Met and MAOA-uVNTR polymorphisms and personality traits measured by the Temperament and Character Inventory (TCI).", "output": {"entities": {"gene": [{"text": "COMT", "start": 83, "end": 87}], "disease": [{"text": "personality traits", "start": 131, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The top psychosis-associated, differentially methylated region, significantly hypomethylated in affected twins, was located in the promoter of ST6GALNAC1 overlapping a previously reported rare genomic duplication observed in SZ.", "output": {"entities": {"gene": [{"text": "ST6GALNAC1", "start": 143, "end": 153}], "disease": [{"text": "psychosis", "start": 8, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ST6GALNAC1", "start": 143, "end": 153}, "tail": {"text": "psychosis", "start": 8, "end": 17}}]}}, "schema": []}
{"input": "We demonstrate that PAK7 is developmentally co-expressed with another known psychosis risk gene (DISC1) suggesting a potential molecular mechanism involving aberrant synapse development and plasticity.", "output": {"entities": {"gene": [{"text": "PAK7", "start": 20, "end": 24}], "disease": [{"text": "psychosis", "start": 76, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAK7", "start": 20, "end": 24}, "tail": {"text": "psychosis", "start": 76, "end": 85}}]}}, "schema": []}
{"input": "Indeed, NONO-deficient mice exhibit impaired glucose tolerance and lower hepatic glycogen and lipids.", "output": {"entities": {"gene": [{"text": "NONO", "start": 8, "end": 12}], "disease": [{"text": "impaired glucose tolerance", "start": 36, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NONO", "start": 8, "end": 12}, "tail": {"text": "impaired glucose tolerance", "start": 36, "end": 62}}]}}, "schema": []}
{"input": "Early small-molecule FASN inhibitors such as cerulenin, C75 and orlistat have been shown to induce apoptosis in several cancer cell lines and to induce tumor growth delay in several cancer xenograft models but their mechanism is still not well understood.", "output": {"entities": {"gene": [{"text": "FASN", "start": 21, "end": 25}], "disease": [{"text": "tumor", "start": 152, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FASN", "start": 21, "end": 25}, "tail": {"text": "tumor", "start": 152, "end": 157}}]}}, "schema": []}
{"input": "Expression of selenium-binding protein 1 characterizes intestinal cell maturation and predicts survival for patients with colorectal cancer.", "output": {"entities": {"gene": [{"text": "selenium-binding protein 1", "start": 14, "end": 40}], "disease": [{"text": "colorectal cancer", "start": 122, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "selenium-binding protein 1", "start": 14, "end": 40}, "tail": {"text": "colorectal cancer", "start": 122, "end": 139}}]}}, "schema": []}
{"input": "To further understand the molecular basis of Wnt signaling pathway and E-cadherin in brain tumorigenesis, the expression of four Wnt genes (Wnt1, Wnt5a, Wnt10b and Wnt13) and E-cadherin were analyzed by reverse transcriptase-polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "Wnt10b", "start": 153, "end": 159}], "disease": [{"text": "tumorigenesis", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Finally, we determined the Bcl-xl and phosphorylated c-Met expression levels in mesothelioma patient samples; these data suggest a strong correlation between Bcl-xl and phosphorylated c-Met levels.", "output": {"entities": {"gene": [{"text": "Bcl-xl", "start": 27, "end": 33}], "disease": [{"text": "mesothelioma", "start": 80, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We suggest that MAO-A-mediated oxidative stress can lead to cell damage, representing a novel pathogenetic mechanism for glucocorticoid-induced myopathy and a potential target for therapeutic intervention.", "output": {"entities": {"gene": [{"text": "MAO-A", "start": 16, "end": 21}], "disease": [{"text": "myopathy", "start": 144, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAO-A", "start": 16, "end": 21}, "tail": {"text": "myopathy", "start": 144, "end": 152}}]}}, "schema": []}
{"input": "Up to date, nucleotide substitutions, insertions, small deletions, one de novo translocation, and one 240 kb deletion of the coding region of the PAX2 gene have been described to be responsible for RCS.", "output": {"entities": {"gene": [{"text": "RCS", "start": 198, "end": 201}], "disease": [{"text": "translocation", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).", "output": {"entities": {"gene": [{"text": "C12orf65", "start": 25, "end": 33}], "disease": [{"text": "SPG55", "start": 95, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C12orf65", "start": 25, "end": 33}, "tail": {"text": "SPG55", "start": 95, "end": 100}}]}}, "schema": []}
{"input": "Supporting the notion of akna as a CC susceptibility gene, we found two polymorphisms associated with squamous intraepithelial lesion (SIL) and CC; moreover, we identified an association between high akna expression levels and CC and SIL, but its direction differs in each disease stage.", "output": {"entities": {"gene": [{"text": "akna", "start": 25, "end": 29}], "disease": [{"text": "squamous intraepithelial lesion", "start": 102, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of FGF receptor-1 (FGFR1) signaling by infusion of a sulfonic acid polymer or infection with a dominant-negative FGFR1 adenovirus inhibited Rap2 upregulation and collateral vessel growth.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 30, "end": 35}], "disease": [{"text": "adenovirus", "start": 130, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Interleukin (IL)-17A and IL-17F are inflammatory cytokines, which play a critical function in inflammation.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 25, "end": 31}], "disease": [{"text": "inflammation", "start": 94, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Exogenous VEGF and, to a lesser extent, exogenous prostaglandins partly reversed the NSAIDs inhibition of hypoxia-induced angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 10, "end": 14}], "disease": [{"text": "hypoxia", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Broncho Alveolar Lavage fluid, lung parenchyma, heart and brain were screened for markers of inflammation (cell counts, cytokines, ET-1, HO-1, MPO, iNOS), cytotoxicity (LDH, ALP, Hsp70, Caspase8-p18, Caspase3-p17) for a putative pro-carcinogenic marker (Cyp1B1) and for TLR4 pathway activation.", "output": {"entities": {"gene": [{"text": "p18", "start": 195, "end": 198}], "disease": [{"text": "inflammation", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "FLN1 mutations have been reported in all familial cases and in about 25% of sporadic patients.", "output": {"entities": {"gene": [{"text": "FLN1", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Our results confirm an association between loss of MMR protein expression, presence of activating BRAF mutation, expanding growth, and PTL reaction as well as between tumor budding, infiltrative growth pattern, and tumor aggressiveness; however, there was no such association between the presence of an activating KRAS or BRAF mutation and a distinct invasion pattern or tumor aggressiveness in CRC.", "output": {"entities": {"gene": [{"text": "PTL", "start": 135, "end": 138}], "disease": [{"text": "aggressiveness", "start": 221, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Gastric MALTs showed frequent API2-MALT1 (38%) but not IGH translocations (0%), and the DLBCLs showed neither translocation.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 35, "end": 40}], "disease": [{"text": "translocation", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We investigated the entire coding region of STK11 in 15 unrelated PJS families by the PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) method and PCR-direct sequence analysis, and found nine different, novel mutations among ten of those families.", "output": {"entities": {"gene": [{"text": "STK11", "start": 44, "end": 49}], "disease": [{"text": "PJS", "start": 66, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STK11", "start": 44, "end": 49}, "tail": {"text": "PJS", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "The sonic hedgehog-induced type 3 deiodinase facilitates tumorigenesis of basal cell carcinoma by reducing Gli2 inactivation.", "output": {"entities": {"gene": [{"text": "Gli2", "start": 107, "end": 111}], "disease": [{"text": "tumorigenesis", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that inhibition of HMGN5 may be a potential strategy for improving effectiveness of ESCC treatment.", "output": {"entities": {"gene": [{"text": "HMGN5", "start": 38, "end": 43}], "disease": [{"text": "ESCC", "start": 103, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGN5", "start": 38, "end": 43}, "tail": {"text": "ESCC", "start": 103, "end": 107}}]}}, "schema": []}
{"input": "Silencing of MYCL1 in SCLC cell lines that had the RLF-MYCL1 fusion decreased cell proliferation.", "output": {"entities": {"gene": [{"text": "MYCL1", "start": 13, "end": 18}], "disease": [{"text": "SCLC", "start": 22, "end": 26}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MYCL1", "start": 13, "end": 18}, "tail": {"text": "SCLC", "start": 22, "end": 26}}]}}, "schema": []}
{"input": "In the present study, we investigated the effects of 14-3-3β inhibition in human glioma U87 cells using specific targeted small interfering RNA (siRNA).", "output": {"entities": {"gene": [{"text": "U87", "start": 88, "end": 91}], "disease": [{"text": "glioma", "start": 81, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Prodynorphin and kappa opioid receptor mRNA expression in the cingulate and prefrontal cortices of subjects diagnosed with schizophrenia or affective disorders.", "output": {"entities": {"gene": [{"text": "Prodynorphin", "start": 0, "end": 12}], "disease": [{"text": "affective disorders", "start": 140, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Prodynorphin", "start": 0, "end": 12}, "tail": {"text": "affective disorders", "start": 140, "end": 159}}]}}, "schema": []}
{"input": "One case with IGH @translocation showed a BCL2 translocation partner.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 42, "end": 46}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that mutated SMAD4 proteins undergo rapid degradation in acute myelogenous leukemia cells via SCF (beta-TrCP1) E3 ligase-mediated protein ubiquitination (or ubiquitylation) and subsequent proteasomal degradation.", "output": {"entities": {"gene": [{"text": "beta-TrCP1", "start": 118, "end": 128}], "disease": [{"text": "acute myelogenous leukemia", "start": 76, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "All the hints suggest that GSN is a novel candidate gene in occurrence of schizophrenia.", "output": {"entities": {"gene": [{"text": "GSN", "start": 27, "end": 30}], "disease": [{"text": "schizophrenia", "start": 74, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GSN", "start": 27, "end": 30}, "tail": {"text": "schizophrenia", "start": 74, "end": 87}}]}}, "schema": []}
{"input": "HRG-alpha and HRG-beta mRNA levels were significantly higher in gastric ulcer tissue than in normal gastric mucosa.", "output": {"entities": {"gene": [{"text": "HRG", "start": 0, "end": 3}], "disease": [{"text": "gastric ulcer", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Both of these nuclear factor kappa B (NF-κB)-activated, 22 nucleotide small non-coding RNAs (sncRNAs) target the mRNA of the key, innate-immune-and inflammation-related regulatory protein, complement factor-H (CFH; chr 1q32), resulting in significant decreases in CFH expression (p < 0. 01, ANOVA).", "output": {"entities": {"gene": [{"text": "CFH", "start": 210, "end": 213}], "disease": [{"text": "inflammation", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The importance of UCHL1 in hepatic fibrosis was investigated in CCl4 and bile duct ligation injured mice using a pharmacological inhibitor (LDN 57444).", "output": {"entities": {"gene": [{"text": "UCHL1", "start": 18, "end": 23}], "disease": [{"text": "hepatic fibrosis", "start": 27, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Functional annotation linked most of the pro-metastatic genes to epithelial mesenchymal transition (EMT) process and three intertwining EMT-driving pathways (hypoxia, TGFB and Wnt), whereas most of the anti-metastatic genes to interferon signaling pathway.", "output": {"entities": {"gene": [{"text": "TGFB", "start": 167, "end": 171}], "disease": [{"text": "hypoxia", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "To study the role of NaV1. 8 mRNA in the pathogenesis of SNE-induced painful neuropathy, NaV1. 8 shRNA vector was delivered by subcutaneous injection of cationized gelatin/plasmid DNA polyplex into the rat hindpaw and its subsequent retrograde transport via sciatic nerve to DRG.", "output": {"entities": {"gene": [{"text": "NaV1. 8", "start": 89, "end": 96}], "disease": [{"text": "neuropathy", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The increased expression of N-myc downstream regulated gene-1 was detected only in poorly differentiated colon cancer cells, Colo-320 cell line.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 28, "end": 33}], "disease": [{"text": "colon cancer", "start": 105, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Mutations in any of the three known causative genes, TGM1, ALOXE3 or ALOX12B, can lead either to NBCIE or LI.", "output": {"entities": {"gene": [{"text": "ALOX12B", "start": 69, "end": 76}], "disease": [{"text": "NBCIE", "start": 97, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALOX12B", "start": 69, "end": 76}, "tail": {"text": "NBCIE", "start": 97, "end": 102}}]}}, "schema": []}
{"input": "The four GPI-anchored cell adhesion molecules that exemplify the IgLON family are most highly expressed in the nervous system and associate to form up to six different heterodimeric' Diglons' that can modify cell adhesion and inhibit axon migration.", "output": {"entities": {"gene": [{"text": "GPI", "start": 9, "end": 12}], "disease": [{"text": "nervous system", "start": 111, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Following DNA microarray, Northern blot and quantitative real-time PCR were employed to confirm FGFR3 expression difference in HCC tissues and surrounding non-neoplastic liver tissue.", "output": {"entities": {"gene": [{"text": "HCC", "start": 127, "end": 130}], "disease": [{"text": "non-neoplastic", "start": 155, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "After induction by TAMs or hypoxia, the vasohibin-1 and vasohibin-2 expressions correlated with that of VEGF-A.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 104, "end": 110}], "disease": [{"text": "hypoxia", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We found that expression of FAP-associated TTR V30M mutant in the nervous system resulted in reduced lifespan and in reduced climbing ability indicating neurological impairment, whereas expression of TTR wt showed a milder phenotype.", "output": {"entities": {"gene": [{"text": "TTR", "start": 43, "end": 46}], "disease": [{"text": "nervous system", "start": 66, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "New alleles at exon 16 were detected in three (14%) of 22 RER + tumours; no new alleles were detected in RER-or ulcerative colitis associated cancers.", "output": {"entities": {"gene": [{"text": "RER", "start": 58, "end": 61}], "disease": [{"text": "ulcerative colitis", "start": 112, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "SIRT1 acts as a modulator of neointima formation following vascular injury in mice.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 0, "end": 5}], "disease": [{"text": "neointima formation", "start": 29, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Thus, these data clearly show that LRP is the major cell-surface receptor responsible for t-PA. PAI-1 complex binding and endocytosis on human hepatoma HepG2 cells and extend the multifunctional nature of LRP as an endocytosis receptor for several structurally and functionally distinct ligands.", "output": {"entities": {"gene": [{"text": "LRP", "start": 35, "end": 38}], "disease": [{"text": "hepatoma", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "To compare the sensitivity and specificity of 4 methods of breast cancer surveillance (mammography, ultrasound, MRI, and CBE) in women with hereditary susceptibility to breast cancer due to a BRCA1 or BRCA2 mutation.", "output": {"entities": {"gene": [{"text": "MRI", "start": 112, "end": 115}], "disease": [{"text": "breast cancer", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We propose the existence of SOX2-expressing ovarian CSCs as a mechanism of tumor aggressiveness and therapy resistance in human SOC.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 28, "end": 32}], "disease": [{"text": "aggressiveness", "start": 81, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Genetic deficiency of CACT in humans is accompanied by a constellation of metabolic and toxicity phenotypes including hypoketonemia, hypoglycemia, hyperammonemia, and impaired neurologic, cardiac and skeletal muscle performance, each of which is apparent in mice lacking SRC-3 expression.", "output": {"entities": {"gene": [{"text": "SRC-3", "start": 271, "end": 276}], "disease": [{"text": "hyperammonemia", "start": 147, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "An increased ratio of KLF6SV1/wt KLF6 is present in a subset (6/33, 18%) of the HBV-related HCCs compared to matched ST. Reconstituting KLF6 in HepG2 cells by retroviral infection decreased proliferation and related markers including cyclin D1 and beta-catenin, increased cellular differentiation based on induction of albumin, E-cadherin, and decreased alpha fetoprotein.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 234, "end": 243}], "disease": [{"text": "retroviral infection", "start": 159, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We found that GPNMB expression, which is regulated by MiTF, was greatly elevated in renal cancer cells harboring either TFE3 translocations or FLCN inactivation.", "output": {"entities": {"gene": [{"text": "GPNMB", "start": 14, "end": 19}], "disease": [{"text": "renal cancer", "start": 84, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In parallel, genes involved in tissue remodeling and inflammation eg, CTGF, VCAM-1, IL-1beta, MMP7, and VEGF were up-regulated.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 70, "end": 74}], "disease": [{"text": "inflammation", "start": 53, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that phosphorylation and functional suppression of TRPC6 underlie prevention of pathological hypertrophy by PDE5 inhibition.", "output": {"entities": {"gene": [{"text": "TRPC6", "start": 73, "end": 78}], "disease": [{"text": "hypertrophy", "start": 115, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPC6", "start": 73, "end": 78}, "tail": {"text": "hypertrophy", "start": 115, "end": 126}}]}}, "schema": []}
{"input": "We report that mutations in either MMP9 or MMP13 are responsible for the human disease metaphyseal anadysplasia (MAD), a heterogeneous group of disorders for which a milder recessive variant and a more severe dominant variant are known.", "output": {"entities": {"gene": [{"text": "MMP9", "start": 35, "end": 39}], "disease": [{"text": "metaphyseal anadysplasia", "start": 87, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MMP9", "start": 35, "end": 39}, "tail": {"text": "metaphyseal anadysplasia", "start": 87, "end": 111}}]}}, "schema": []}
{"input": "The expression of DNMT1 protein has been detected in 61 out of 100 (61%) esophageal squamous carcinoma cases, including 41 cases in the above 45 methylated samples of RASSF1A gene promoter, and none in adjacent tissues.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 18, "end": 23}], "disease": [{"text": "esophageal", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "If arsenite produces exencephaly by inactivating the Pax3 protein, then the fact that the exencephaly rate was increased in Sp/Sp embryos with no functional Pax3 indicates that arsenite may either induce this defect through additional pathways, or may alter the response via modifier genes.", "output": {"entities": {"gene": [{"text": "Pax3", "start": 53, "end": 57}], "disease": [{"text": "exencephaly", "start": 21, "end": 32}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Pax3", "start": 53, "end": 57}, "tail": {"text": "exencephaly", "start": 21, "end": 32}}]}}, "schema": []}
{"input": "In addition, coadministration of JTP-4819 and substance P, arginine-vasopressin or thyrotropin-releasing hormone (at doses at which each drug alone did not prolong the retention time) improved the retention time of rats with scopolamine-induced amnesia.", "output": {"entities": {"gene": [{"text": "substance P", "start": 46, "end": 57}], "disease": [{"text": "amnesia", "start": 245, "end": 252}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "substance P", "start": 46, "end": 57}, "tail": {"text": "amnesia", "start": 245, "end": 252}}]}}, "schema": []}
{"input": "A human chondrodysplasia due to a mutation in a TGF-beta superfamily member.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 48, "end": 56}], "disease": [{"text": "chondrodysplasia", "start": 8, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "We show that an identical missense mutation within exon 5, resulting in an amino acid substitution of glutamic acid for glycine at position 188, is responsible for LPL deficiency in 21 of 88 LPL alleles assessed.", "output": {"entities": {"gene": [{"text": "LPL", "start": 164, "end": 167}], "disease": [{"text": "LPL deficiency", "start": 164, "end": 178}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 164, "end": 167}, "tail": {"text": "LPL deficiency", "start": 164, "end": 178}}]}}, "schema": []}
{"input": "Here we have identified truncating mutations in TARBP2 (TAR RNA-binding protein 2), encoding an integral component of a DICER1-containing complex, in sporadic and hereditary carcinomas with microsatellite instability.", "output": {"entities": {"gene": [{"text": "TAR RNA-binding protein 2", "start": 56, "end": 81}], "disease": [{"text": "sporadic", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Patients without MFRP gene function exhibit no correction of refractive error during childhood, which suggests that this gene is essential for emmetropization, a complex process by which vision regulates axial growth of the eye.", "output": {"entities": {"gene": [{"text": "MFRP gene", "start": 17, "end": 26}], "disease": [{"text": "refractive error", "start": 61, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the CACNA1A gene on chromosome 19 encoding a calcium channel subunit cause EA-2, which is characterized by recurrent attacks of imbalance with interictal eye movement abnormalities.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 17, "end": 24}], "disease": [{"text": "EA-2", "start": 88, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 17, "end": 24}, "tail": {"text": "EA-2", "start": 88, "end": 92}}]}}, "schema": []}
{"input": "In this article, we describe fluorescence in situ hybridization (FISH) results on detection of MYCN amplification in formalin-fixed, paraffin-embedded samples of 25 neuroblastoma and 20 nonneuroblastoma pediatric tumors.", "output": {"entities": {"gene": [{"text": "FISH", "start": 65, "end": 69}], "disease": [{"text": "neuroblastoma", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "These data show that de novo VEGFR3 mutations may be present in patients without family history of congenital lymphedema.", "output": {"entities": {"gene": [{"text": "VEGFR3", "start": 29, "end": 35}], "disease": [{"text": "congenital lymphedema", "start": 99, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VEGFR3", "start": 29, "end": 35}, "tail": {"text": "congenital lymphedema", "start": 99, "end": 120}}]}}, "schema": []}
{"input": "To investigate the role of the HS1, 2 enhancer polymorphisms as a new candidate marker for rheumatoid arthritis (RA) and to define the possible association with autoantibody positivity and clinical outcome.", "output": {"entities": {"gene": [{"text": "HS1", "start": 31, "end": 34}], "disease": [{"text": "rheumatoid arthritis", "start": 91, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Frequently overexpressed genes (tumor/normal ratio > 2) were COL1A1 (percentage of cases with overexpression, 78. 3%), CDH17 (73. 9%), APOC1 (67. 4%), COL1A2 (58. 7%), YF13H12 (52. 2%), CEACAM6 (50. 0%), APOE (50. 0%), REGIV (47. 8%), S100A11 (41. 3%), and FUS (41. 3%).", "output": {"entities": {"gene": [{"text": "YF13H12", "start": 168, "end": 175}], "disease": [{"text": "tumor", "start": 32, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, ZP-PTH also produced an early increase in hip bone mineral density, an effect not observed with the injection.", "output": {"entities": {"gene": [{"text": "PTH", "start": 17, "end": 20}], "disease": [{"text": "bone mineral density", "start": 60, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the association between AD and HMGCR rs3846662, a polymorphism known to be involved in the regulation of HMGCR exon 13 skipping, in a founder population and in two distinct mixed North American populations of converting mild cognitively impaired (MCI) subjects (Alzheimer' s disease Cooperative study (ADCS) and Alzheimer' s disease Neuroimaging Initiative (ADNI) cohorts).", "output": {"entities": {"gene": [{"text": "HMGCR", "start": 53, "end": 58}], "disease": [{"text": "mild", "start": 242, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "The systemic administration of UK1 purified from pichia expression (10 and 50 mg/kg/day intraperitoneally for 25 days) led to suppress the growth of a U87 human glioma xenograft, implanted into the brains of male BALB/cSlc nude mice, by 35% and 80%, respectively.", "output": {"entities": {"gene": [{"text": "U87", "start": 151, "end": 154}], "disease": [{"text": "glioma", "start": 161, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "In cell mixing experiments, mixing of MMP-poor cell lines transfected with GALV M40 constructs with the MMP overexpressing untransfected U87 glioma cells led to partial restoration of fusion.", "output": {"entities": {"gene": [{"text": "U87", "start": 137, "end": 140}], "disease": [{"text": "glioma", "start": 141, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In an effort to develop a new therapy for prostate cancer (PCa) bone metastases, we have created Ad. dcn, a recombinant oncolytic adenovirus carrying the human decorin gene.", "output": {"entities": {"gene": [{"text": "decorin gene", "start": 160, "end": 172}], "disease": [{"text": "adenovirus", "start": 130, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Analysis of the GFAP gene revealed a heterozygous missense mutation, c. 827G & gt; T, p. R276L, which was already shown to be pathogenic in a case of pathologically proven hereditary adult-onset ALX.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 16, "end": 20}], "disease": [{"text": "ALX", "start": 195, "end": 198}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 16, "end": 20}, "tail": {"text": "ALX", "start": 195, "end": 198}}]}}, "schema": []}
{"input": "Together, our results suggest that therapies using cannabinoid receptor ligands will have efficiency in reducing tumor burden in malignant lymphoma overexpressing CB1 and CB2.", "output": {"entities": {"gene": [{"text": "CB2", "start": 171, "end": 174}], "disease": [{"text": "malignant lymphoma", "start": 129, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "A differential diagnosis with other conditions can be made on the basis of marked autofluorescence changes in combination with an absent light rise on the EOG that outweighs the full-field ERG abnormalities, which point to the BEST1-related hereditary nature of the disease.", "output": {"entities": {"gene": [{"text": "BEST1", "start": 227, "end": 232}], "disease": [{"text": "abnormalities", "start": 193, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Individuals with a history of gangrenous appendicitis demonstrated ability to increased IL-10 and IFN-gamma production.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 88, "end": 93}], "disease": [{"text": "appendicitis", "start": 41, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-10", "start": 88, "end": 93}, "tail": {"text": "appendicitis", "start": 41, "end": 53}}]}}, "schema": []}
{"input": "A role for c-Myc in the hypoxic induction of VEGF was demonstrated by site-directed mutagenesis of the VEGF promoter and silencing of c-Myc by small interfering RNA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 45, "end": 49}], "disease": [{"text": "hypoxic", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "PIB VR typing avoids limited monoclonal antibody availability, interlaboratory variation, and the requirement for culture-based surveillance associated with gonococcal serotyping, and provides useful information about the molecular epidemiology of individual por gene VRs.", "output": {"entities": {"gene": [{"text": "por gene", "start": 259, "end": 267}], "disease": [{"text": "gonococcal", "start": 157, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "APP administration dampened the mRNA expression of IL-1β, TNF-α, IL-6, IL-17, IL-22, CXCL9, CXCL10, CXCL11, and IFN-γ in the colons of mice with colitis.", "output": {"entities": {"gene": [{"text": "CXCL11", "start": 100, "end": 106}], "disease": [{"text": "colitis", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "To study whether abnormal secretion of islet amyloid polypeptide is involved in the development of insulin resistance and impaired insulin secretion in Type 2 (non-insulin-dependent) diabetes mellitus, we measured islet amyloid polypeptide concentrations in 56 first-degree relatives of Type 2 diabetic subjects and in 10 healthy control subjects.", "output": {"entities": {"gene": [{"text": "islet amyloid polypeptide", "start": 39, "end": 64}], "disease": [{"text": "insulin resistance", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "These behavioural and neurochemical abnormalities in NK1R-/-mice, together with their atypical response to psychostimulants, echo attention deficit hyperactivity disorder (ADHD) in humans.", "output": {"entities": {"gene": [{"text": "NK1R", "start": 53, "end": 57}], "disease": [{"text": "abnormalities", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Because DPM1 deficiency, like other subtypes of CDG-I, impairs the assembly of N-glycans, this novel glycosylation defect was named CDG-Ie.", "output": {"entities": {"gene": [{"text": "DPM1", "start": 8, "end": 12}], "disease": [{"text": "CDG-Ie", "start": 132, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DPM1", "start": 8, "end": 12}, "tail": {"text": "CDG-Ie", "start": 132, "end": 138}}]}}, "schema": []}
{"input": "Expression of bax gene appears to distinguish adrenal cancer from benign adrenal tumors.", "output": {"entities": {"gene": [{"text": "bax gene", "start": 14, "end": 22}], "disease": [{"text": "adrenal cancer", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to determine whether gems and/or nuclear FUS levels in skin derived fibroblasts from sporadic ALS patients are consistently reduced and thus could constitute a novel and readily available biomarker of the disease.", "output": {"entities": {"gene": [{"text": "FUS", "start": 59, "end": 62}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Removal of BAX expression by homologous recombination reduces apoptosis in vitro and in vivo but allows a lower level of cell death via a predominantly necrotic mechanism.", "output": {"entities": {"gene": [{"text": "BAX", "start": 11, "end": 14}], "disease": [{"text": "necrotic", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Chronic liver diseases with concurrent HCC showed higher methylation frequencies of the tested genes, and a higher number of methylated genes than those without concurrent HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 39, "end": 42}], "disease": [{"text": "liver diseases", "start": 8, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "The PPI group had a significantly increased PGE (2) and decreased LTB (4) levels in comparison to the H (2) blocker group during the ulcer-healing stage.", "output": {"entities": {"gene": [{"text": "LTB", "start": 66, "end": 69}], "disease": [{"text": "ulcer", "start": 133, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Two hundred and fifty one Italian patients with sporadic frontotemporal lobar degeneration (FTLD) and 259 age-matched controls were tested for association with the tagging single nucleotide polymorphisms (SNPs) rs741810 and rs1052352 in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS).", "output": {"entities": {"gene": [{"text": "TLS", "start": 294, "end": 297}], "disease": [{"text": "sporadic", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Four single nucleotide polymorphisms (SNPs) in the BMP2 gene, 2 SNPs in BMP4, and 16 SNPs in BMP7 were tested for association with measures of VC using CT (coronary and carotid arteries, abdominal aorta), and BMD was measured using DXA (lumbar spine, hip, and distal radius) and quantitative CT (QCT; thoracic and lumbar spine) in 920 European Americans from 374 Diabetes Heart Study families: 762 with type 2 diabetes.", "output": {"entities": {"gene": [{"text": "BMP2 gene", "start": 51, "end": 60}], "disease": [{"text": "thoracic", "start": 301, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.", "output": {"entities": {"gene": [{"text": "LRP5", "start": 24, "end": 28}], "disease": [{"text": "osteoporosis-pseudoglioma syndrome", "start": 53, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRP5", "start": 24, "end": 28}, "tail": {"text": "osteoporosis-pseudoglioma syndrome", "start": 53, "end": 87}}]}}, "schema": []}
{"input": "The sera from 59 out of 111 (53%) Japanese alopecia patients were positive for anti-nuclear antibody (ANA), as compared to the sera of 16 out of 105 (15%) healthy controls (p < 0. 001).", "output": {"entities": {"gene": [{"text": "ANA", "start": 102, "end": 105}], "disease": [{"text": "alopecia", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "A mouse model of the human 5q-syndrome has been generated by large-scale deletion of the Cd74-Nid67 interval (containing Rps14) and the crossing of these' 5q-mice' with p53-deficient mice ameliorated the erythroid progenitor defect.", "output": {"entities": {"gene": [{"text": "Rps14", "start": 121, "end": 126}], "disease": [{"text": "5q-syndrome", "start": 27, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Rps14", "start": 121, "end": 126}, "tail": {"text": "5q-syndrome", "start": 27, "end": 38}}]}}, "schema": []}
{"input": "X-linked agammaglobulinemia (XLA) is caused by BTK mutations, patients typically show < 2% of peripheral B cells and reduced levels of all immunoglobulins; they suffer from recurrent infections of bacterial origin; however, viral infections, autoimmune-like diseases, and an increased risk of developing gastric cancer are also reported.", "output": {"entities": {"gene": [{"text": "BTK", "start": 47, "end": 50}], "disease": [{"text": "recurrent infections", "start": 173, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "CRCs in which the DNA MMR function was deficient as evidenced by high level microsatellite instability and/or loss of expression of MMR gene product by immunostaining were excluded.", "output": {"entities": {"gene": [{"text": "MMR", "start": 22, "end": 25}], "disease": [{"text": "microsatellite instability", "start": 76, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In a separate group of six mild atopic asthmatics, there was an increased proportion of BAL cells positive for IL-10 mRNA 24 h after allergen inhalation challenge compared with diluent challenge BAL from the same subjects (24% versus 10%; P < 0. 005).", "output": {"entities": {"gene": [{"text": "IL-10", "start": 111, "end": 116}], "disease": [{"text": "mild", "start": 27, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The \" top hit \" was an interaction between maternal ENPP1 rs1044498 and fetal SLC2A2 rs6785233 (interaction OR = 3. 65, 95% CI: 2. 32-5. 74, p = 2. 09 × 10 (-8), q = 0. 001), which was confirmed in step 2 (p = 0. 00004).", "output": {"entities": {"gene": [{"text": "SLC2A2", "start": 78, "end": 84}], "disease": [{"text": "hit", "start": 10, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "The peritoneal fluid CCL22 concentrations were significantly higher in epithelial ovarian cancer (EOC) patients than in patients with benign tumors-serous cystadenoma (n = 32).", "output": {"entities": {"gene": [{"text": "CCL22", "start": 21, "end": 26}], "disease": [{"text": "serous cystadenoma", "start": 148, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the low penetrance of the mutant gene, the lack of genotype-phenotype correlation, the sex-dependent effect of RET mutations and the variable clinical expression of the disease support the existence of one or more modifier genes in familial HSCR.", "output": {"entities": {"gene": [{"text": "RET", "start": 127, "end": 130}], "disease": [{"text": "HSCR", "start": 257, "end": 261}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 127, "end": 130}, "tail": {"text": "HSCR", "start": 257, "end": 261}}]}}, "schema": []}
{"input": "These observations are the first to show changes in the dynamics of CART and nesfatin/NUCB2 expressions in the midbrain of drug-free depressed suicide victims vs. controls.", "output": {"entities": {"gene": [{"text": "NUCB2", "start": 86, "end": 91}], "disease": [{"text": "suicide", "start": 143, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Echocardiography was used for evaluation of left ventricular mass and mass index and polymerase chain reaction-for identification of alleles and genotypes of polymorphic markers of ACE, NOS3, PPARA, PPARG2 genes.", "output": {"entities": {"gene": [{"text": "ACE", "start": 181, "end": 184}], "disease": [{"text": "left ventricular mass", "start": 44, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Moreover, a recent human study unravelled gene × environment interactions between TCF4 risk alleles and smoking behaviour that were specifically associated with disrupted early information processing.", "output": {"entities": {"gene": [{"text": "TCF4", "start": 82, "end": 86}], "disease": [{"text": "smoking", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "To determine the effectiveness of adrenocorticotropic hormone (ACTH) for acute gouty arthritis and pseudogout in a population of patients with multiple coexisting medical problems.", "output": {"entities": {"gene": [{"text": "adrenocorticotropic hormone", "start": 34, "end": 61}], "disease": [{"text": "gouty arthritis", "start": 79, "end": 94}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "adrenocorticotropic hormone", "start": 34, "end": 61}, "tail": {"text": "gouty arthritis", "start": 79, "end": 94}}]}}, "schema": []}
{"input": "As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.", "output": {"entities": {"gene": [{"text": "CAMK2A", "start": 142, "end": 148}], "disease": [{"text": "major depression", "start": 75, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAMK2A", "start": 142, "end": 148}, "tail": {"text": "major depression", "start": 75, "end": 91}}]}}, "schema": []}
{"input": "In conclusion, mutation of PRDM16 causes the cardiomyopathy in 1p36 deletion syndrome as well as a proportion of nonsyndromic LVNC and DCM.", "output": {"entities": {"gene": [{"text": "PRDM16", "start": 27, "end": 33}], "disease": [{"text": "1p36 deletion syndrome", "start": 63, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRDM16", "start": 27, "end": 33}, "tail": {"text": "1p36 deletion syndrome", "start": 63, "end": 85}}]}}, "schema": []}
{"input": "Ninety-eight SNPs were selected to tag the common genetic variation in nine genes, namely OPTN (optineurin), RDX (radixin), SNX16 (sorting nexin 16), OPA1 (optic atrophy 1), MFN1 (mitofusin 1), MFN2 (mitofusin 2), PARL (presenilin associated, rhomboid-like), SOD2 (superoxide dismutase 2, mitochondrial) and CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1).", "output": {"entities": {"gene": [{"text": "superoxide dismutase 2", "start": 265, "end": 287}], "disease": [{"text": "optic atrophy 1", "start": 156, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The identification of antigenic regions and corresponding seroreactivity in asymptomatic and persistently B19-infected patients is important for the understanding of B19-pathogenesis and for the development of B19 vaccine candidates.", "output": {"entities": {"gene": [{"text": "B19", "start": 106, "end": 109}], "disease": [{"text": "asymptomatic", "start": 76, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The neuronal cell adhesion molecule L1 (L1CAM) is a transmembrane glycoprotein belonging to the immunoglobulin superfamily and is essential in the development of the nervous system.", "output": {"entities": {"gene": [{"text": "transmembrane glycoprotein", "start": 52, "end": 78}], "disease": [{"text": "nervous system", "start": 166, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we considered TN and non TN (NTN), 21 BRCA-related and 27 sporadic BCs.", "output": {"entities": {"gene": [{"text": "NTN", "start": 39, "end": 42}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "An impaired MMR function during replication introduces infidelity in DNA sequence and leads to ubiquitous mutations at simple repetitive sequences (microsatellites), causing microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 12, "end": 15}], "disease": [{"text": "microsatellite instability", "start": 174, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "In addition, haplotype analysis should be employed to check for homozygosity of 1p36, which harbors a cluster of causative genes for ARP such as DJ-1, PINK1 and ATP13A2 in ARP and sporadic parkinsonism, especially in parkinsonism with consanguinity.", "output": {"entities": {"gene": [{"text": "ARP", "start": 133, "end": 136}], "disease": [{"text": "parkinsonism", "start": 189, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "We have elucidated the role of maspin RCL on adhesion, migration, and invasion by transfecting the highly invasive human breast carcinoma MDA-MB-231 cell line with pcDNA3. 1-His/FLAG containing wild-type maspin, ovalbumin, or maspin/ovalbumin RCL chimeric mutants in which maspin RCL is replaced by ovalbumin (MOM) and vice versa (OMO).", "output": {"entities": {"gene": [{"text": "RCL", "start": 38, "end": 41}], "disease": [{"text": "adhesion", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Human pre-B acute lymphocytic leukemia (ALL) cell line 697 contains a disease-specific chromosomal translocation, t (1; 19), near the insulin receptor locus (INSR).", "output": {"entities": {"gene": [{"text": "INSR", "start": 158, "end": 162}], "disease": [{"text": "chromosomal translocation", "start": 87, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "This finding demonstrates that a SMARCB1 mutation may be the initial \" hit \" (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) mutations may be at increased risk for tumors.", "output": {"entities": {"gene": [{"text": "SWI", "start": 271, "end": 274}], "disease": [{"text": "schwannomas", "start": 152, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Surfactant protein B is important in the intracellular processing and production of surfactant protein C. Although surfactant protein C-deficient mice are viable and survive to adulthood without obvious pulmonary abnormalities, their lung have reduced viscoelasticty.", "output": {"entities": {"gene": [{"text": "Surfactant protein B", "start": 0, "end": 20}], "disease": [{"text": "abnormalities", "start": 213, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "No association was found between promoter methylation of DAPK and Helicobacter pylori infection, whereas a close association was observed with the presence of gastric atrophy and DAPK promoter methylation (P = 0. 015).", "output": {"entities": {"gene": [{"text": "DAPK", "start": 57, "end": 61}], "disease": [{"text": "gastric atrophy", "start": 159, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "E-cadherin and P-cadherin expression increased in polyps, whereas a significant decrease in their expression was observed in CCA (p < 0. 001) while E-cadherin expression significantly increased in CCA compared to NM (p < 0. 001), no such difference was observed in P-cadherin expression.", "output": {"entities": {"gene": [{"text": "P-cadherin", "start": 15, "end": 25}], "disease": [{"text": "polyps", "start": 50, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We have detected heterozygous germline mutations in IDH2 that alter enzyme residue Arg (140) in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG.", "output": {"entities": {"gene": [{"text": "IDH2", "start": 52, "end": 56}], "disease": [{"text": "D-2-HGA", "start": 153, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH2", "start": 52, "end": 56}, "tail": {"text": "D-2-HGA", "start": 153, "end": 160}}]}}, "schema": []}
{"input": "Together, our results support the critical potential of MBD3 in HDI-induced cancer-selective cell death via cancer differential gene expression.", "output": {"entities": {"gene": [{"text": "MBD3", "start": 56, "end": 60}], "disease": [{"text": "cancer", "start": 76, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Being a non-smoker was significantly associated with the prevalence of epidermal growth factor receptor mutations, but the prevalence of KRAS mutations was significantly associated with smoking.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 71, "end": 103}], "disease": [{"text": "smoking", "start": 186, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "PTHrP mRNA detection correlated positively with LC stage, presence of bone metastasis, and squamous cell carcinoma, and LUNX mRNA detection correlated with lymph node involvement.", "output": {"entities": {"gene": [{"text": "LUNX", "start": 120, "end": 124}], "disease": [{"text": "bone metastasis", "start": 70, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Methylation of the MLH1 gene promoter region is an underlying cause of colorectal cancer (CRC) with high microsatellite instability (MSI-H) diagnosed in persons without a germ line mutation in a mismatch repair (MMR) gene (non-Lynch Syndrome CRC).", "output": {"entities": {"gene": [{"text": "MMR", "start": 212, "end": 215}], "disease": [{"text": "microsatellite instability", "start": 105, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.", "output": {"entities": {"gene": [{"text": "PNPLA1", "start": 0, "end": 6}], "disease": [{"text": "congenital ichthyosis", "start": 43, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PNPLA1", "start": 0, "end": 6}, "tail": {"text": "congenital ichthyosis", "start": 43, "end": 64}}]}}, "schema": []}
{"input": "In addition to ruling out abnormalities of the V (D) J recombinase in AT, BS, and DNA ligase I mutant cells, these studies suggest that DNA ligase I is unlikely to be required for signal or coding end joining in the V (D) J recombination reaction.", "output": {"entities": {"gene": [{"text": "DNA ligase I", "start": 82, "end": 94}], "disease": [{"text": "abnormalities", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The null GSTT1 genotype was found to be associated with increased risk of cerebral stroke after Bonferroni correction and adjusting for confounding variables such as gender, blood pressure, body mass index, and antihypertensive medication use (odds ratio 1. 51 95% CI 1. 09-2. 07, P = 0. 01).", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 9, "end": 14}], "disease": [{"text": "body mass index", "start": 190, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Among different functions assigned to NGFR, it is also involved in apoptosis induction and tumorigenesis processes.", "output": {"entities": {"gene": [{"text": "NGFR", "start": 38, "end": 42}], "disease": [{"text": "tumorigenesis", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We initiated EPO at the onset of therapy to maintain the hemoglobin between 12 and 15 g/dL.", "output": {"entities": {"gene": [{"text": "EPO", "start": 13, "end": 16}], "disease": [{"text": "hemoglobin", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "On the contrary, only silent mutations in sporadic cancers correlate with SF2/ASF motifs in p53.", "output": {"entities": {"gene": [{"text": "SF2", "start": 74, "end": 77}], "disease": [{"text": "sporadic", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC.", "output": {"entities": {"gene": [{"text": "HNPCC", "start": 73, "end": 78}], "disease": [{"text": "Muir-Torre syndrome", "start": 35, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HNPCC", "start": 73, "end": 78}, "tail": {"text": "Muir-Torre syndrome", "start": 35, "end": 54}}]}}, "schema": []}
{"input": "Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.", "output": {"entities": {"gene": [{"text": "XPNPEP3", "start": 30, "end": 37}], "disease": [{"text": "nephronophthisis-like nephropathy", "start": 88, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XPNPEP3", "start": 30, "end": 37}, "tail": {"text": "nephronophthisis-like nephropathy", "start": 88, "end": 121}}]}}, "schema": []}
{"input": "The methylation-specific polymerase chain reaction (MSP) with primers for methylated (M-MSP) and unmethylated (U-MSP) alleles of the p21, p27, and p57 genes was used to study five leukemic cell lines, 50 acute myeloid leukemia (AML) samples, and 25 acute lymphoblastic leukemia (ALL) samples.", "output": {"entities": {"gene": [{"text": "MSP", "start": 52, "end": 55}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 249, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "In this study, we performed a meta-analysis to clarify the association of FTO gene polymorphisms with overweight/obesity risk among children and adolescents.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 74, "end": 82}], "disease": [{"text": "overweight", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to identify metabolic changes associated with cell growth during hyperplasia and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 107, "end": 110}], "disease": [{"text": "hyperplasia", "start": 91, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Hereditary and sporadic CRC with MMR defect can be detectable by microsatellite instability (MSI) test or immunohistochemical analysis among general CRCs.", "output": {"entities": {"gene": [{"text": "MMR", "start": 33, "end": 36}], "disease": [{"text": "microsatellite instability", "start": 65, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "A large number of cells within the specimens of proliferative hemangiomas revealed localized gene expression of basic fibroblast growth factor and vascular endothelial growth factor messenger RNA (626 +/-129 and 1660 +/-371 cells/mm2, respectively).", "output": {"entities": {"gene": [{"text": "mm2", "start": 230, "end": 233}], "disease": [{"text": "hemangiomas", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In this study, the ETV6-RUNX1 translocation was sequenced by next-generation sequencing (NGS) in 26 patients with ETV6-RUNX1-positive ALL and re-sequenced by using the Sanger method.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 24, "end": 29}], "disease": [{"text": "translocation", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Gene copy number gain of CCND1, TRAF4, CDC6 and MTDH was seen in > 40% of the male breast cancer cases, with also frequent amplification.", "output": {"entities": {"gene": [{"text": "MTDH", "start": 48, "end": 52}], "disease": [{"text": "male breast cancer", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Twenty-three patients with ALMS (age, 1-52 years; 11 males, 12 females) were evaluated for anthropometric parameters (growth charts and standard deviation score (SDS) of height, weight, BMI), GH secretion by growth hormone-releasing hormone + arginine test (GHRH-arg), bone age, and hypothalamic-pituitary magnetic resonance imaging (MRI).", "output": {"entities": {"gene": [{"text": "MRI", "start": 334, "end": 337}], "disease": [{"text": "height", "start": 170, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "One MLH1 SNP, rs1800734, located in the MLH1 CpG island at-93 from the translation start site, was significantly associated with MLH1 methylation as were age at diagnosis and patient body mass index.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 4, "end": 8}], "disease": [{"text": "body mass index", "start": 183, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "The apelin/APJ system may be involved in retinal neovascularization during the development of proliferative diabetic retinopathy.", "output": {"entities": {"gene": [{"text": "APJ", "start": 11, "end": 14}], "disease": [{"text": "retinal neovascularization", "start": 41, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "To investigate the therapeutic potential of decorin for keloids, human dermal fibroblasts (HDFs) and keloid-derived fibroblasts (KFs) were transduced with decorin-expressing adenovirus (dE1-RGD/GFP/DCN), and we examined the therapeutic potential of decorin-expressing Ad for treating pathologic skin fibrosis.", "output": {"entities": {"gene": [{"text": "DCN", "start": 198, "end": 201}], "disease": [{"text": "adenovirus", "start": 174, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "In addition, we demonstrate for the first time that rHuEpo reduces considerably hippocampal neurodegeneration following SE. rHuEpo may thus supplement astroglial induction of Epo to promote enhanced hippocampal neuronal survival following SE.", "output": {"entities": {"gene": [{"text": "Epo", "start": 55, "end": 58}], "disease": [{"text": "SE", "start": 120, "end": 122}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Epo", "start": 55, "end": 58}, "tail": {"text": "SE", "start": 120, "end": 122}}]}}, "schema": []}
{"input": "Furthermore, increased expression of cPLA (2) alpha, assessed by anti-phospho-cPLA2alpha antibody, was observed in the skin lesions of mite-antigen-induced dermatitis.", "output": {"entities": {"gene": [{"text": "cPLA (2) alpha", "start": 37, "end": 51}], "disease": [{"text": "dermatitis", "start": 156, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cPLA (2) alpha", "start": 37, "end": 51}, "tail": {"text": "dermatitis", "start": 156, "end": 166}}]}}, "schema": []}
{"input": "VEGFC and VEGFR1 mRNA overexpression is of prognostic value, dependent on HER2 status, in patients with high-risk early breast cancer undergoing adjuvant treatment.", "output": {"entities": {"gene": [{"text": "VEGFC", "start": 0, "end": 5}], "disease": [{"text": "breast cancer", "start": 120, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VEGFC", "start": 0, "end": 5}, "tail": {"text": "breast cancer", "start": 120, "end": 133}}]}}, "schema": []}
{"input": "As the pattern of expression of bcl-2 in hematopoietic cells is still unclear, we have measured the level of the corresponding messenger RNA (mRNA) in a variety of myeloid and lymphoid cell malignancies not usually associated with the t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 32, "end": 37}], "disease": [{"text": "translocation", "start": 246, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Most t (14; 18) translocation breakpoints cluster within a narrow region of a 5. 4 kb exon that contains a long 3'-untranslated region of the bcl-2 mRNA.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 142, "end": 147}], "disease": [{"text": "translocation", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "The activity of nuclear factor-kappaB (NF-kappaB), a nuclear transcription factor, influences both critical tumor promotion and host-tumor interactions.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 39, "end": 48}], "disease": [{"text": "tumor promotion", "start": 108, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.", "output": {"entities": {"gene": [{"text": "KLF1", "start": 58, "end": 62}], "disease": [{"text": "hereditary persistence of fetal hemoglobin", "start": 70, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KLF1", "start": 58, "end": 62}, "tail": {"text": "hereditary persistence of fetal hemoglobin", "start": 70, "end": 112}}]}}, "schema": []}
{"input": "No patient had 2 attacks of aplasia and no patient nor control had 2 attacks of B19 infection.", "output": {"entities": {"gene": [{"text": "B19", "start": 80, "end": 83}], "disease": [{"text": "aplasia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We show that physiology in mice transgenic for genomic segments harboring wild-type (TgWnk4 (WT)) or PHAII mutant (TgWnk4 (PHAII)) Wnk4 is changed in opposite directions: TgWnk4 (PHAII) mice have higher blood pressure, hyperkalemia, hypercalciuria and marked hyperplasia of the distal convoluted tubule (DCT), whereas the opposite is true in TgWnk4 (WT) mice.", "output": {"entities": {"gene": [{"text": "DCT", "start": 304, "end": 307}], "disease": [{"text": "hyperplasia", "start": 259, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Treatment of the cells with PPARα agonists, but not a PPARγ agonist, prior to hypoxia diminished hypoxia-induced HIF-1α expression and activity, and addition of a PPARα antagonist attenuated the suppression of HIF-1α signaling.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 54, "end": 59}], "disease": [{"text": "hypoxia", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "In both human U87MG glioma cells and human umbilical vein EC, SEMA3F induced rapid cytoskeletal collapse, suppressed cell contractility, decreased phosphorylation of cofilin, and inhibited cell migration in culture.", "output": {"entities": {"gene": [{"text": "SEMA3F", "start": 62, "end": 68}], "disease": [{"text": "glioma", "start": 20, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Association of toll-interacting protein gene polymorphisms with atopic dermatitis.", "output": {"entities": {"gene": [{"text": "toll-interacting protein", "start": 15, "end": 39}], "disease": [{"text": "atopic dermatitis", "start": 64, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data suggest a central role of p53, through which it can inhibit VPF/VEGF expression by regulating the transcriptional activity of Sp1 and also by down-regulating the Src kinase activity, under both normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 89, "end": 93}], "disease": [{"text": "hypoxic", "start": 232, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Colonization rates of H. pylori, degree of gastric inflammation and other pathological changes including atrophic gastritis and metaplasia, serum levels and mRNA transcripts of various mouse cytokines and chemokines, and NF-kappaB binding activities, and finally the presence of gastric adenocarcinoma were compared between H. pylori infected group (HP), and H. pylori infected group administered with long-term rebamipide containing pellet diets (HPR) or nimesulide mixed pellets (HPN).", "output": {"entities": {"gene": [{"text": "HPR", "start": 448, "end": 451}], "disease": [{"text": "atrophic gastritis", "start": 105, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We performed methylation specific PCR on DNA isolated from primary tumors, metastatic lymph nodes, and negative lymph nodes from twenty vulvar cancer patients using the following genes: P16INK4a, MGMT, TWIST1, CADM1, TERT, and TFPI2.", "output": {"entities": {"gene": [{"text": "TWIST1", "start": 202, "end": 208}], "disease": [{"text": "vulvar cancer", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Other mutation events as MPL, TET2, LNK, EZH2 have been described in chronic phase, while NF1, IDH1, IDH2, ASX1, CBL and Ikaros in blast phase of MPN.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 41, "end": 45}], "disease": [{"text": "blast phase", "start": 131, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We previously conducted a proteomic analysis to investigate tumor-specific protein expression in gastric cancer, and PPase was identified as a potential gastric tumor-specific marker; it was therefore selected for further study.", "output": {"entities": {"gene": [{"text": "PPase", "start": 117, "end": 122}], "disease": [{"text": "gastric tumor", "start": 153, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to compare 11beta-HSD1 mRNA expression and CYP2D6 metabolizer status in pharyngeal tissues of patients with oropharyngeal carcinoma and controls.", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 69, "end": 75}], "disease": [{"text": "oropharyngeal carcinoma", "start": 134, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Small hidden interstitial insertions resulting in an AML1/ETO rearrangement were detected in five (8. 5%) of the 59 patients, whereas the sixth patient showed a cryptic three-way translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 53, "end": 57}], "disease": [{"text": "translocation", "start": 179, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "There were no differences in alphav, beta1 and beta3 levels among the three melanoma lines, and PCR products for alphaIIb, alpha2, CD36, or ICAM-2 were not detected.", "output": {"entities": {"gene": [{"text": "beta3", "start": 47, "end": 52}], "disease": [{"text": "melanoma", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Zinc induces expression of the BH3-only protein PUMA through p53 and ERK pathways in SH-SY5Y neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "BH3-only protein", "start": 31, "end": 47}], "disease": [{"text": "neuroblastoma", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Results from this study may provide further evidence that PRNP M129V is not a genetic susceptibility factor for MS, MCI, alcoholism and schizophrenia in a Korean population.", "output": {"entities": {"gene": [{"text": "MCI", "start": 116, "end": 119}], "disease": [{"text": "schizophrenia", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "We treated female rats subjected to renal hypertension, increased hemodynamic stress, and estrogen deficiency for 3 months with the mineralocorticoid receptor blocker eplerenone (30 or 100 mg/kg per day) or vehicle (vehicle control).", "output": {"entities": {"gene": [{"text": "mineralocorticoid receptor", "start": 132, "end": 158}], "disease": [{"text": "renal hypertension", "start": 36, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the effects of YXM110 were associated with several characteristics of autophagy, including accumulation of autophagic vacuoles, elevation of Atg12-Atg5 and light chain 3 (LC3)-II, and levels of GFP-LC3 puncta.", "output": {"entities": {"gene": [{"text": "LC3", "start": 181, "end": 184}], "disease": [{"text": "autophagic vacuoles", "start": 117, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Except for the patients with Burkitt' s-like translocation, none of the patients harboring 8q abnormalities, including balanced translocations or duplications of MYCC band, identified both by G-banding and SKY, showed differential expression levels of MYCC.", "output": {"entities": {"gene": [{"text": "SKY", "start": 206, "end": 209}], "disease": [{"text": "translocation", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "It is well established that the hypoxic induction of VPF/VEGF is in large part an increase in the stability of its mRNA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 57, "end": 61}], "disease": [{"text": "hypoxic", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The entire coding regions of the OCTN2 gene were sequenced in 143 unrelated subjects suspected of having CDSP.", "output": {"entities": {"gene": [{"text": "OCTN2", "start": 33, "end": 38}], "disease": [{"text": "CDSP", "start": 105, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCTN2", "start": 33, "end": 38}, "tail": {"text": "CDSP", "start": 105, "end": 109}}]}}, "schema": []}
{"input": "Initial studies have reported strong associations of variants in the plant homeodomain zinc finger protein 11 (PHF11) gene with serum IgE levels, asthma, airway hyper-responsiveness and childhood atopic dermatitis.", "output": {"entities": {"gene": [{"text": "PHF11", "start": 111, "end": 116}], "disease": [{"text": "airway hyper-responsiveness", "start": 154, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Cerebral cortical gray matter overgrowth and functional variation of the serotonin transporter gene in autism.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 73, "end": 94}], "disease": [{"text": "overgrowth", "start": 30, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Two melanoma cells A2058 or DM6 were tested for their sensitivity to agonistic anti-Fas antibody (CH-11); adenovirus expressing FKHRL1/TM (Ad-FKHRL1/TM) was assessed for its capability to induce activation of the caspase pathway; the role of Fas-L in the Ad-FKHRL1/TM mediated-cell death was also assessed in vitro.", "output": {"entities": {"gene": [{"text": "FKHRL1", "start": 128, "end": 134}], "disease": [{"text": "adenovirus", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Using isolation by size of epithelial tumor cells (ISET) filtration and filter-adapted-fluorescence in situ hybridization (FA-FISH), ROS1 rearrangement was examined in CTCs from four ROS1-rearranged patients treated with the ROS1-inhibitor, crizotinib, and four ROS1-negative patients.", "output": {"entities": {"gene": [{"text": "FISH", "start": 126, "end": 130}], "disease": [{"text": "epithelial tumor", "start": 27, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Pre-B cell colony enhancing factor induces Nampt-dependent translocation of the insulin receptor out of lipid microdomains in A549 lung epithelial cells.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 80, "end": 96}], "disease": [{"text": "translocation", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis.", "output": {"entities": {"gene": [{"text": "ATRX", "start": 196, "end": 200}], "disease": [{"text": "cryptorchidism", "start": 376, "end": 390}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATRX", "start": 196, "end": 200}, "tail": {"text": "cryptorchidism", "start": 376, "end": 390}}]}}, "schema": []}
{"input": "We demonstrate that abrogation of p53 function drives the early transcriptome changes responsible for cell proliferation, EMT and survival, while further transcriptome changes that occur during in vivo tumor progression are mechanistically linked to the development of CIN leading to a more invasive and metastatic breast cancer phenotype.", "output": {"entities": {"gene": [{"text": "EMT", "start": 122, "end": 125}], "disease": [{"text": "tumor progression", "start": 202, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Stable expression of ERG and Tmprss2: ERG variants promoted cell migration/invasion, induced a block of proliferation and induced a senescence-like state, suggesting a role for these variants in the prostate tumorigenesis process.", "output": {"entities": {"gene": [{"text": "Tmprss2", "start": 29, "end": 36}], "disease": [{"text": "tumorigenesis", "start": 208, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "The mechanisms underlying this abnormal glycosylation are not well understood, but reduced expression of the enzyme core 1, β1, 3-galactosyltransferase 1 (C1GALT1) may contribute.", "output": {"entities": {"gene": [{"text": "C1GALT1", "start": 155, "end": 162}], "disease": [{"text": "abnormal glycosylation", "start": 31, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We also show that the p. Gly114Arg variant has a strong inhibitory effect on splicing in HeLa cells, evidence that homozygozity for p. Gly114Arg causes acephalic spermatozoa syndrome through loss of SUN5 function.", "output": {"entities": {"gene": [{"text": "SUN5", "start": 199, "end": 203}], "disease": [{"text": "acephalic spermatozoa syndrome", "start": 152, "end": 182}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUN5", "start": 199, "end": 203}, "tail": {"text": "acephalic spermatozoa syndrome", "start": 152, "end": 182}}]}}, "schema": []}
{"input": "Thus, in renal cancer cell lines expressing HIF-2alpha, this protein plays a role in regulating the levels of the TRAIL receptor DR5.", "output": {"entities": {"gene": [{"text": "DR5", "start": 129, "end": 132}], "disease": [{"text": "renal cancer", "start": 9, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results demonstrate for the first time that LPS up-regulates ICAM-1 expression in breast cancer cells via a MyD88-BLT2-ERK-linked signaling cascade, leading to the increased adhesion of breast cancer cells to monocytes.", "output": {"entities": {"gene": [{"text": "BLT2", "start": 134, "end": 138}], "disease": [{"text": "adhesion", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Moreover, our data also show that the intracellular increase of TRIP-Br1 protein resulting from serum starvation seems to occur in part through the blockage of PI3K/AKT signaling pathway.", "output": {"entities": {"gene": [{"text": "TRIP-Br1", "start": 64, "end": 72}], "disease": [{"text": "starvation", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "PGRN is located 1. 7 Mb centromeric of MAPT on chromosome 17q21. 31 and encodes a 68. 5-kDa secreted growth factor involved in the regulation of multiple processes including development, wound repair and inflammation.", "output": {"entities": {"gene": [{"text": "MAPT", "start": 39, "end": 43}], "disease": [{"text": "inflammation", "start": 204, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.", "output": {"entities": {"gene": [{"text": "SMCHD1", "start": 26, "end": 32}], "disease": [{"text": "facioscapulohumeral muscular dystrophy", "start": 84, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMCHD1", "start": 26, "end": 32}, "tail": {"text": "facioscapulohumeral muscular dystrophy", "start": 84, "end": 122}}]}}, "schema": []}
{"input": "These results confirm and extend our previous observation that the OCRL phenotype results from loss of function of the ocrl1 protein and that mutations are generally heterogeneous.", "output": {"entities": {"gene": [{"text": "ocrl1", "start": 119, "end": 124}], "disease": [{"text": "OCRL", "start": 67, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ocrl1", "start": 119, "end": 124}, "tail": {"text": "OCRL", "start": 67, "end": 71}}]}}, "schema": []}
{"input": "Moreover, similar results were observed in HaCaT cells infected with adenovirus-based small interfering RNAs targeting Gab1 and/or Gab2.", "output": {"entities": {"gene": [{"text": "Gab2", "start": 131, "end": 135}], "disease": [{"text": "adenovirus", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Involvement of RhoA and RalB in geranylgeranyltransferase I inhibitor-mediated inhibition of proliferation and migration of human oral squamous cell carcinoma cells.", "output": {"entities": {"gene": [{"text": "RalB", "start": 24, "end": 28}], "disease": [{"text": "squamous cell carcinoma", "start": 135, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "These functional observations were strengthened by genetic evidence: somatic loss-of-function mutations in PPARG, encoding PPARgamma, in sporadic colorectal carcinomas and somatic translocation of PAX8 and PPARG in follicular thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 197, "end": 201}], "disease": [{"text": "sporadic", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Arginase type II (ARG2), ethylmalonic encephalopathy 1 (ETHE1), transmembrane protein 176A (TMEM176A) and TMEM176B genes were significantly confirmed in the validation set.", "output": {"entities": {"gene": [{"text": "TMEM176B", "start": 106, "end": 114}], "disease": [{"text": "ethylmalonic encephalopathy", "start": 25, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The discs L2/L3-L5/S1 were evaluated on MRI, using decreased signal intensity of the nucleus pulposus, posterior disc bulges, and decreased disc height as signs of disc degeneration.", "output": {"entities": {"gene": [{"text": "MRI", "start": 40, "end": 43}], "disease": [{"text": "height", "start": 145, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Herein, we further explore the expression of the cancer-testis antigens MAGEA1, ACRBP, PRAME, and SSX2 in myxoid and round-cell liposarcoma by immunohistochemistry in addition to determining mRNA levels of CTAG2 (LAGE-1), PRAME, and MAGEA3 by quantitative real-time PCR.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 98, "end": 102}], "disease": [{"text": "liposarcoma", "start": 128, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Tumors samples were analyzed for methylation in LINE-1 and 16 CpG islands (CACNA1G, CDKN2A [p16], CRABP1, IGF2, MLH1, NEUROG1, RUNX3, SOCS1, CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14 [ARF], and WRN); microsatellite instability (MSI); the CpG island methylator phenotype (CIMP); 18q loss of heterozygosity; KRAS, BRAF, and PIK3CA mutations; and expression of beta-catenin, p53, p21, p27, cyclin D1, fatty acid synthase, and cyclooxygenase-2.", "output": {"entities": {"gene": [{"text": "MINT1", "start": 167, "end": 172}], "disease": [{"text": "microsatellite instability", "start": 203, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization (FISH) and molecular studies localized the breakpoints on Xp22. 3 in the immediate vicinity of the KAL gene demonstrating deletions of steroid sulfatase (STS), arylsulfatase E (ARSE), and short stature homeo box (SHOX) genes.", "output": {"entities": {"gene": [{"text": "FISH", "start": 36, "end": 40}], "disease": [{"text": "short stature", "start": 223, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Pre-treatment of glioblastoma cell lines with GDNF but not the alternative ligand neurturin, promoted mitogenic behaviour and conferred chemoresistance to 1, 3-bis (2-chloroethyl)-1-nitrosourea (BCNU).", "output": {"entities": {"gene": [{"text": "GDNF", "start": 46, "end": 50}], "disease": [{"text": "glioblastoma", "start": 17, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GDNF", "start": 46, "end": 50}, "tail": {"text": "glioblastoma", "start": 17, "end": 29}}]}}, "schema": []}
{"input": "To better understand their functional roles during inflammation we have here studied the in vivo expression of receptors for the chemokines CCL3/CCL5/CCL7 (MIP-1alpha/RANTES/MCP-3) and CX3CL1 (fractalkine), CCR1 and CX3CR1, respectively, in rat myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalomyelitis.", "output": {"entities": {"gene": [{"text": "myelin oligodendrocyte glycoprotein", "start": 245, "end": 280}], "disease": [{"text": "inflammation", "start": 51, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Mature CD22 + and CD3 + lymphocytes did not have the chromosomal aberrations.", "output": {"entities": {"gene": [{"text": "CD22", "start": 7, "end": 11}], "disease": [{"text": "chromosomal aberrations", "start": 53, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The abnormal pregnancy hydatidiform mole (HM) can be classified as complete (CHM) or partial (PHM) on the basis of both morphology and genetic origin.", "output": {"entities": {"gene": [{"text": "PHM", "start": 94, "end": 97}], "disease": [{"text": "hydatidiform mole", "start": 23, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH (4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).", "output": {"entities": {"gene": [{"text": "PAH", "start": 61, "end": 64}], "disease": [{"text": "PAH deficiency", "start": 61, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAH", "start": 61, "end": 64}, "tail": {"text": "PAH deficiency", "start": 61, "end": 75}}]}}, "schema": []}
{"input": "Homozygous mutations in TREM2 or DAP12 cause Nasu-Hakola disease, which is characterized by bone abnormalities and dementia.", "output": {"entities": {"gene": [{"text": "TREM2", "start": 24, "end": 29}], "disease": [{"text": "abnormalities", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "EPLIN-α expression in human oesophageal cancer and its impact on cellular aggressiveness and clinical outcome.", "output": {"entities": {"gene": [{"text": "EPLIN", "start": 0, "end": 5}], "disease": [{"text": "aggressiveness", "start": 74, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The polymerase chain reaction was used to amplify the exons of the PLP gene of an affected male from a large Indiana PMD kindred.", "output": {"entities": {"gene": [{"text": "PLP", "start": 67, "end": 70}], "disease": [{"text": "PMD", "start": 117, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLP", "start": 67, "end": 70}, "tail": {"text": "PMD", "start": 117, "end": 120}}]}}, "schema": []}
{"input": "The testicular tumors, seminomas and embryonal carcinomas, also expressed TGFB4 (ebaf) mRNA.", "output": {"entities": {"gene": [{"text": "ebaf", "start": 81, "end": 85}], "disease": [{"text": "testicular tumors", "start": 4, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "An in vitro mimic of inflammation decreased the expression of NM23-H2 in SMCs, which was restored on addition of estrogen and dependent on the estrogen receptor.", "output": {"entities": {"gene": [{"text": "NM23-H2", "start": 62, "end": 69}], "disease": [{"text": "inflammation", "start": 21, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "To determine whether polymorphisms in the 3' untranslated region (UTR) of the NRAMP1 gene are associated with susceptibility to tuberculosis in Koreans.", "output": {"entities": {"gene": [{"text": "UTR", "start": 66, "end": 69}], "disease": [{"text": "susceptibility to tuberculosis", "start": 110, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Seroprevalence to HERV-K10 Env or Gag was 17 of 27 testicular cancer patients (63%) around the time of diagnosis, compared to 4 of 77 controls (5%; P < 0. 0001).", "output": {"entities": {"gene": [{"text": "K10", "start": 23, "end": 26}], "disease": [{"text": "testicular cancer", "start": 51, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "An understanding of the mechanisms of white matter oedema in MLC is emerging.", "output": {"entities": {"gene": [{"text": "MLC", "start": 61, "end": 64}], "disease": [{"text": "oedema", "start": 51, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The consequence of the translocation is fusion of the helix-loop-helix domain of TEL, an ETS-like putative transcription factor, to the DNA-binding and transactivation domains of the transcription factor AML1.", "output": {"entities": {"gene": [{"text": "AML1", "start": 204, "end": 208}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Expression and identification of recombinant chicken vascular endothelial growth factor in Pichia pastoris and its role in the pathogenesis of tibial dyschondroplasia.", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor", "start": 53, "end": 87}], "disease": [{"text": "dyschondroplasia", "start": 150, "end": 166}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "vascular endothelial growth factor", "start": 53, "end": 87}, "tail": {"text": "dyschondroplasia", "start": 150, "end": 166}}]}}, "schema": []}
{"input": "In lipoma, twenty-two cases (22. 4%) were associated with either HMGA2-LPP or LPP-HMGA2, while neither TLS-CHOP nor EWS-CHOP transcript was detectable.", "output": {"entities": {"gene": [{"text": "EWS", "start": 116, "end": 119}], "disease": [{"text": "lipoma", "start": 3, "end": 9}]}, "relations": {}}, "schema": []}
{"input": "Sonographic, CCT or MRI yielded the following results: 4 of the patients had a cavum septum pellucidum, 3 patients had hypoplasia of the cerebellum, 1 aplasia of the corpus callosum and 1 aplasia of the fornix.", "output": {"entities": {"gene": [{"text": "MRI", "start": 20, "end": 23}], "disease": [{"text": "aplasia", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The IGH translocation partner could be identified in four cHL and involved BCL2 and BCL3 in two cases each.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 75, "end": 79}], "disease": [{"text": "translocation", "start": 8, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Biopsy specimens (bone marrow and gastrointestinal mucosa) of a 69 year old woman with mild blood lymphocytosis and a history of urticaria pigmentosa-like skin lesions that had disappeared a few years earlier, were investigated immunohistochemically using antibodies against CD3, CD5, CD20, CD23, CD25, CD34, CD117, chymase, and tryptase.", "output": {"entities": {"gene": [{"text": "CD117", "start": 309, "end": 314}], "disease": [{"text": "mild", "start": 87, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in an in vitro study, ACE2 activation prevented the hypoxia-induced cell death and upregulation of HMGB1 in adult cardiomyocytes.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 109, "end": 114}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These results support the view that NFNS represents a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals.", "output": {"entities": {"gene": [{"text": "NF1", "start": 65, "end": 68}], "disease": [{"text": "NFNS", "start": 36, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 65, "end": 68}, "tail": {"text": "NFNS", "start": 36, "end": 40}}]}}, "schema": []}
{"input": "The efficacy of adeno-associated virus carrying HGFK1 (AAV-HGFK1) in osteolytic bone metastasis was then evaluated using an in vivo bone metastasis model.", "output": {"entities": {"gene": [{"text": "AAV", "start": 55, "end": 58}], "disease": [{"text": "bone metastasis", "start": 80, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation of ATP2A2 gene in a Chinese family with Darier disease.", "output": {"entities": {"gene": [{"text": "ATP2A2", "start": 29, "end": 35}], "disease": [{"text": "Darier disease", "start": 66, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2A2", "start": 29, "end": 35}, "tail": {"text": "Darier disease", "start": 66, "end": 80}}]}}, "schema": []}
{"input": "Mutations in other regulatory genes such as HESX1, PROP1, PIT1/POU1F1, and GLI2 have been shown to be additional causes of pituitary hormone deficiency, but overall, the etiology of many cases of hypopituitarism is not understood.", "output": {"entities": {"gene": [{"text": "POU1F1", "start": 63, "end": 69}], "disease": [{"text": "pituitary hormone deficiency", "start": 123, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that polymorphisms in APH-1a/b coding regions are not linked with higher risk for sporadic AD in our Italian population sample.", "output": {"entities": {"gene": [{"text": "APH-1a", "start": 39, "end": 45}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Heterozygosity for a null GHRHR mutation is not associated with reduction in adult stature or in serum IGF-I but is associated with changes in body composition and possibly an increase in insulin sensitivity.", "output": {"entities": {"gene": [{"text": "GHRHR", "start": 26, "end": 31}], "disease": [{"text": "insulin sensitivity", "start": 188, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "AIM: To determine the association of functional single nucleotide polymorphisms in genes of the pro-inflammatory cytokines tumour necrosis factor-α, interleukin-1β, interleukin-8 and interleukin-12B with the development of two clinical forms of apical periodontitis (AP): acute suppurative and chronic nonsuppurative.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "apical periodontitis", "start": 245, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Baseline airway inflammation of intrinsic and extrinsic asthma is characterized by eosinophilic inflammation and the Th1 cytokine, IFN-gamma.", "output": {"entities": {"gene": [{"text": "Th1", "start": 117, "end": 120}], "disease": [{"text": "extrinsic asthma", "start": 46, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The involvement of promoter methylation in suppression of TIMP3 expression in choriocarcinoma was examined using methylation-specific PCR (MSP) and demethylation treatment.", "output": {"entities": {"gene": [{"text": "MSP", "start": 139, "end": 142}], "disease": [{"text": "choriocarcinoma", "start": 78, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Sonic hedgehog expression in gastric cancer and gastric adenoma.", "output": {"entities": {"gene": [{"text": "Sonic hedgehog", "start": 0, "end": 14}], "disease": [{"text": "gastric adenoma", "start": 48, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the contribution of Akt2 to experimental renal EMT and fibrosis using the well-established model of unilateral ureteral obstruction (UUO).", "output": {"entities": {"gene": [{"text": "EMT", "start": 78, "end": 81}], "disease": [{"text": "ureteral obstruction", "start": 142, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Here we report the first description of a child with mild intellectual disability and a submicroscopic duplication at Xp22. 12 identified by MLPA with a P106 MRX kit (MRC-Holland, Amsterdam, Netherlands) and further confirmed and characterized with a custom 244-k oligo-array, fluorescence in situ hybridization, quantitative polymerase chain reaction (qPCR), and immunoblotting.", "output": {"entities": {"gene": [{"text": "MRC", "start": 167, "end": 170}], "disease": [{"text": "mild intellectual disability", "start": 53, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Human Thy-1 (CD90) has been shown to mediate adhesion of inflammatory cells to activated microvascular endothelial cells via interaction with Mac-1 (CD11b/CD18) in vitro.", "output": {"entities": {"gene": [{"text": "CD90", "start": 13, "end": 17}], "disease": [{"text": "adhesion", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya disease.", "output": {"entities": {"gene": [{"text": "RNF213", "start": 71, "end": 77}], "disease": [{"text": "moyamoya disease", "start": 107, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RNF213", "start": 71, "end": 77}, "tail": {"text": "moyamoya disease", "start": 107, "end": 123}}]}}, "schema": []}
{"input": "Molecular genetic analysis showed that the translocation in all cases resulted in a fusion transcript including the 5'-part of ACTB and the 3'-part of GLI.", "output": {"entities": {"gene": [{"text": "GLI", "start": 151, "end": 154}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Finally, ABCR-mediated retinal degeneration may result from \" poisoning \" of the RPE due to A2-E accumulation, with secondary photoreceptor degeneration due to loss of the RPE support role.", "output": {"entities": {"gene": [{"text": "ABCR", "start": 9, "end": 13}], "disease": [{"text": "retinal degeneration", "start": 23, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "This study was designed to investigate whether IL-17 can regulate the expression of the MMP/TIMP system, the OPG/RANK/RANKL system, or type-I and type-III collagen fibers in a rat model of isoproterenol-induced heart failure (HF).", "output": {"entities": {"gene": [{"text": "RANKL", "start": 118, "end": 123}], "disease": [{"text": "heart failure", "start": 211, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Partially purified B cells from ataxia telangiectasia (A-T) patients and normal individuals were stimulated with Staphylococcus aureus Cowan I organisms (SAC).", "output": {"entities": {"gene": [{"text": "SAC", "start": 154, "end": 157}], "disease": [{"text": "telangiectasia", "start": 39, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, clofibrate inhibition of humanized TAS1R3 in the genetic background of Tas1r3 (-/-), Gnat3 (-/-) doubly null mice led to inducible male sterility.", "output": {"entities": {"gene": [{"text": "Gnat3", "start": 98, "end": 103}], "disease": [{"text": "male sterility", "start": 144, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gnat3", "start": 98, "end": 103}, "tail": {"text": "male sterility", "start": 144, "end": 158}}]}}, "schema": []}
{"input": "A blind evaluation was carried out in two stages: first, under experimental conditions on convenience samples comprising 20 negative specimens, 44 smear-and culture-positive respiratory specimens, and 11 sputa inoculated with various mycobacterium-related organisms; and second, in the routine workflow of 566 fresh respiratory specimens (4. 9% acid-fast bacillus [AFB] smear positives, 7. 6% MTC positives, and 1. 8% nontuberculous mycobacteria [NTM] culture positives) from two Mycobacterium laboratories.", "output": {"entities": {"gene": [{"text": "NTM", "start": 447, "end": 450}], "disease": [{"text": "blind", "start": 2, "end": 7}]}, "relations": {}}, "schema": []}
{"input": "Further mutational analysis is needed to help define the critical functional domains of the P protein and to allow a definitive diagnosis of OCA2.", "output": {"entities": {"gene": [{"text": "P protein", "start": 92, "end": 101}], "disease": [{"text": "OCA2", "start": 141, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "P protein", "start": 92, "end": 101}, "tail": {"text": "OCA2", "start": 141, "end": 145}}]}}, "schema": []}
{"input": "To report, for the first time, that X-linked incomplete congenital stationary night blindness (CSNB2A) and & #197; land island eye disease (AIED) phenotypes coexist in a molecularly confirmed pedigree and to present novel phenotypic characteristics of calcium channel alpha-1F subunit gene (CACNA1F)-related disease.", "output": {"entities": {"gene": [{"text": "CACNA1F", "start": 291, "end": 298}], "disease": [{"text": "AIED", "start": 140, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1F", "start": 291, "end": 298}, "tail": {"text": "AIED", "start": 140, "end": 144}}]}}, "schema": []}
{"input": "To report a case of ENPP1 loss-of-function novel mutation presenting with HR and very early onset and severe hearing loss.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 20, "end": 25}], "disease": [{"text": "severe hearing loss", "start": 102, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In this study, we compared the gene expression profiles of CS, EC, and uterine sarcoma (US) and evaluated the role of EMT and chromosomal aberrations in CS tumor formation.", "output": {"entities": {"gene": [{"text": "EMT", "start": 118, "end": 121}], "disease": [{"text": "chromosomal aberrations", "start": 126, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "This study focused on the potential contributions of abnormalities in the HCN2 isoform and their role in FS.", "output": {"entities": {"gene": [{"text": "HCN2", "start": 74, "end": 78}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "FHH was identified in 72 (20. 1%) children; 212 (59. 2%) children had at least one CVRF, where low high-density lipoprotein (HDL)-cholesterol (36. 3%), elevated waist circumference (WC) (29. 3%), and hypertriglyceridemia (28. 8%) were the most frequent; high-blood pressure (HBP) and hyperglycemia were recognized in 10 (3. 3%) and 1 (0. 3%) children.", "output": {"entities": {"gene": [{"text": "HBP", "start": 275, "end": 278}], "disease": [{"text": "waist circumference", "start": 161, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) is an essential step for tumor progression, although the mechanisms driving EMT are still not fully understood.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 65, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The methylation of CpG islands in E-Cadherin and COX-2 genes in periodontitis patients occurs more frequently in periodontitis patients than in the control subjects, but occurs less frequently than in the breast cancer patients.", "output": {"entities": {"gene": [{"text": "E-Cadherin", "start": 34, "end": 44}], "disease": [{"text": "periodontitis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25.", "output": {"entities": {"gene": [{"text": "SEPT9", "start": 48, "end": 53}], "disease": [{"text": "HNA", "start": 76, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEPT9", "start": 48, "end": 53}, "tail": {"text": "HNA", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "Core specimens were obtained before neoadjuvant chemotherapy from sixty cases of primary breast cancer of the following four subgroups: luminal breast cancer (LBC) with pathological complete response (pCR), LBC with stable disease, triple-negative breast cancer (TNBC) with pCR and TNBC with poor response.", "output": {"entities": {"gene": [{"text": "LBC", "start": 159, "end": 162}], "disease": [{"text": "triple-negative breast cancer", "start": 232, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "At the same time, overexpression of cyclin D1, Cdk4, and Rb was found in the corresponding lesion in adjacent esophageal sections.", "output": {"entities": {"gene": [{"text": "Cdk4", "start": 47, "end": 51}], "disease": [{"text": "esophageal", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, upregulation of VEGF was not mediated by hypoxia-inducible transcription factor-1 (HIF-1) as indicated by only a weak expression of the oxygen-sensitive alpha-subunit of HIF-1 in the skin of SSc patients.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 31, "end": 35}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The transcription factor Sp1 has been implicated in cell-type-specific activation of transforming growth factor-beta (TGFbeta) target genes in normal epithelial cells as well as in aberrant gene activation by TGFbeta in epithelial tumor cells.", "output": {"entities": {"gene": [{"text": "transcription factor Sp1", "start": 4, "end": 28}], "disease": [{"text": "epithelial tumor", "start": 220, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Gene expression of differentiation-specific keratins (K4, K13, K1 and K10) in oral non-dysplastic keratoses and lichen planus.", "output": {"entities": {"gene": [{"text": "K10", "start": 70, "end": 73}], "disease": [{"text": "lichen planus", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Constitutional mutations of the RET proto-oncogene have been identified in multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC) families.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 32, "end": 50}], "disease": [{"text": "multiple endocrine neoplasia type 2A (MEN 2A", "start": 75, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 32, "end": 50}, "tail": {"text": "multiple endocrine neoplasia type 2A (MEN 2A", "start": 75, "end": 119}}]}}, "schema": []}
{"input": "Susceptibility for chronic chlamydial infection of PBMC in CAD patients appears associated with the CD14-159C > T promoter polymorphism encoding for enhanced CD14 expression.", "output": {"entities": {"gene": [{"text": "CD14", "start": 100, "end": 104}], "disease": [{"text": "chlamydial infection", "start": 27, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2.", "output": {"entities": {"gene": [{"text": "keratin 17", "start": 20, "end": 30}], "disease": [{"text": "pachyonychia congenita type 2", "start": 55, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 17", "start": 20, "end": 30}, "tail": {"text": "pachyonychia congenita type 2", "start": 55, "end": 84}}]}}, "schema": []}
{"input": "Forced expression of the S1P (1) in low-expressor cell lines (U87, U251) resulted in decreased cell growth and led to suppressed tumor growth in transplanted gliomas in vivo.", "output": {"entities": {"gene": [{"text": "U87", "start": 62, "end": 65}], "disease": [{"text": "gliomas", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Pro12Ala polymorphism was genotyped by TaqMan-based assay in genomic DNA of 1, 119 consenting patients from BErgamo NEphrologic DIabetic Complications Trial (BENEDICT)-a prospective, randomized trial evaluating ACE inhibition effect on new-onset microalbuminuria (albuminuria 20-200 microg/min in at least two of three consecutive overnight urine collections in two consecutive visits) in hypertensive type 2 diabetes with albuminuria < 20 microg/min at inclusion.", "output": {"entities": {"gene": [{"text": "ACE", "start": 211, "end": 214}], "disease": [{"text": "microalbuminuria", "start": 246, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Citrullinemia type 1 is an autosomal-recessive urea cycle disorder caused by mutations in the ASS1 gene and characterised by increased plasma citrulline concentrations.", "output": {"entities": {"gene": [{"text": "ASS1", "start": 94, "end": 98}], "disease": [{"text": "Citrullinemia type 1", "start": 0, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASS1", "start": 94, "end": 98}, "tail": {"text": "Citrullinemia type 1", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "Whole-exome sequencing identified an apparent missense mutation of BAP1 in UMM, CMM, as well as paraganglioma, breast cancer, and suspected mesothelioma cases in the family.", "output": {"entities": {"gene": [{"text": "CMM", "start": 80, "end": 83}], "disease": [{"text": "mesothelioma", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We propose that the circadian gene CRY2 is associated with rapid cycling in bipolar disorder.", "output": {"entities": {"gene": [{"text": "CRY2", "start": 35, "end": 39}], "disease": [{"text": "bipolar disorder", "start": 76, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRY2", "start": 35, "end": 39}, "tail": {"text": "bipolar disorder", "start": 76, "end": 92}}]}}, "schema": []}
{"input": "As mutations in several genes cause axonal degeneration in CMT type 2, mutations in mitofusin 2 (MFN2) account for approximately 90% of the most severe cases, making it the most common cause of inherited peripheral axonal degeneration.", "output": {"entities": {"gene": [{"text": "MFN2", "start": 97, "end": 101}], "disease": [{"text": "peripheral axonal degeneration", "start": 204, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.", "output": {"entities": {"gene": [{"text": "SLC2A10", "start": 130, "end": 137}], "disease": [{"text": "breast tumors", "start": 212, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC2A10", "start": 130, "end": 137}, "tail": {"text": "breast tumors", "start": 212, "end": 225}}]}}, "schema": []}
{"input": "A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.", "output": {"entities": {"gene": [{"text": "porcn", "start": 11, "end": 16}], "disease": [{"text": "natal teeth", "start": 65, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The data of RT-PCR showed that mRNA levels of ADM, IMD/ADM2 and RAMP2 in hypoxia group increased by 155. 1% (P < 0. 01), 80. 9% (P < 0. 01) and 52. 9% (P < 0. 05), respectively, compared with those in the control group.", "output": {"entities": {"gene": [{"text": "ADM", "start": 46, "end": 49}], "disease": [{"text": "hypoxia", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Our observations reveal chorein as a novel powerful regulator of cytoskeletal architecture and cell survival, thus explaining erythrocyte misshape and possibly neurodegeneration in chorea-acanthocytosis.", "output": {"entities": {"gene": [{"text": "chorein", "start": 24, "end": 31}], "disease": [{"text": "neurodegeneration", "start": 160, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Intraperitoneal injection of 6 microg Abeta (1-40) into 18-days-old rat fetuses (approximately 3 g body weight) resulted after 24 h in the appearance of the peptide in various fetal organs including brain where it enhanced the levels of glutathione (GSH), glutathione reductase, glutathione peroxidase, and stimulated the levels of pro-survival signaling activities such as Akt serine/threonine kinase, extracellular signal-regulated kinase (ERK) and protein kinase C enzymes.", "output": {"entities": {"gene": [{"text": "serine/threonine kinase", "start": 378, "end": 401}], "disease": [{"text": "body weight", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Female estrogen receptor knockout mice develop glomerulosclerosis at 9 months of age due to excessive ovarian testosterone production and secretion.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 7, "end": 24}], "disease": [{"text": "glomerulosclerosis", "start": 47, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "estrogen receptor", "start": 7, "end": 24}, "tail": {"text": "glomerulosclerosis", "start": 47, "end": 65}}]}}, "schema": []}
{"input": "Transfection of cultured cells originally derived from high grade gliomas (U87-MG and SK-MG1) with ASIC2 abolished basal amiloride-sensitive sodium conductance; this inhibition was reversed by dialysis of the cell interior with Munc-18, a syntaxin-binding protein that typically blocks the interaction of syntaxin with other proteins.", "output": {"entities": {"gene": [{"text": "U87", "start": 75, "end": 78}], "disease": [{"text": "gliomas", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Solo ECs subjected to hypoxia demonstrated upregulated expression of the same 16 genes, including VEGF and HIF1.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 98, "end": 102}], "disease": [{"text": "hypoxia", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Common genetic variation near MC4R is associated with risk of adiposity and insulin resistance.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 30, "end": 34}], "disease": [{"text": "insulin resistance", "start": 76, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MC4R", "start": 30, "end": 34}, "tail": {"text": "insulin resistance", "start": 76, "end": 94}}]}}, "schema": []}
{"input": "Cyclin-dependent kinase inhibitor p27Kip1 controls growth and cell cycle progression in human uterine leiomyoma.", "output": {"entities": {"gene": [{"text": "Cyclin-dependent kinase inhibitor", "start": 0, "end": 33}], "disease": [{"text": "uterine leiomyoma", "start": 94, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We examined DNA damage responses and repair in four human glioma cell lines (A7, U87, T98G, and U373) and normal human astrocytes (NHAs) after clinically relevant radiation doses to establish whether we could identify differences among them that might suggest new approaches to selective radiosensitization.", "output": {"entities": {"gene": [{"text": "U87", "start": 81, "end": 84}], "disease": [{"text": "glioma", "start": 58, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Sequence analysis of DNA samples from patients representing different Alexander disease phenotypes revealed that most cases are associated with non-conservative mutations in the coding region of GFAP.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 195, "end": 199}], "disease": [{"text": "Alexander disease", "start": 70, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 195, "end": 199}, "tail": {"text": "Alexander disease", "start": 70, "end": 87}}]}}, "schema": []}
{"input": "Furthermore, the overexpression of src in p53 mutant zebrafish also caused hyperplasia, HCC, and sarcomatoid HCC, which were accompanied by increased levels of the signaling proteins p-erk, p-akt, myc, jnk1 and vegf.", "output": {"entities": {"gene": [{"text": "HCC", "start": 88, "end": 91}], "disease": [{"text": "hyperplasia", "start": 75, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The human homolog for the sorbin and SH3-domain-containing-1 gene, termed SORBS1, might play a role in human disorders with insulin resistance.", "output": {"entities": {"gene": [{"text": "SORBS1", "start": 74, "end": 80}], "disease": [{"text": "insulin resistance", "start": 124, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Here, we study TP53 wild-type (EW7, CADO-ES1 and TC32) and TP53-deleted (SK-N-MC) Ewing sarcoma cell lines to investigate the potentiating effect of p53 reactivation by Nutlin-3 on treatment with YK-4-279 to block transcriptional activity of EWSR1-FLI1 protein.", "output": {"entities": {"gene": [{"text": "ES1", "start": 41, "end": 44}], "disease": [{"text": "sarcoma", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Moreover, selective blockage of A2B receptor or knockdown of PAP or A2B on hypoxic GSCs results in significant reduction of phosphorylation of Akt and Erk-1/2.", "output": {"entities": {"gene": [{"text": "PAP", "start": 61, "end": 64}], "disease": [{"text": "hypoxic", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "H19 overexpression in breast adenocarcinoma stromal cells is associated with tumor values and steroid receptor status but independent of p53 and Ki-67 expression.", "output": {"entities": {"gene": [{"text": "H19", "start": 0, "end": 3}], "disease": [{"text": "breast adenocarcinoma", "start": 22, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Molecular epidemiology of EGFR and KRAS mutations in 3, 026 lung adenocarcinomas: higher susceptibility of women to smoking-related KRAS-mutant cancers.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 26, "end": 30}], "disease": [{"text": "smoking", "start": 116, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Genotypic analysis showed that there is a statistical significance between c. 94C > A variant on ITPA gene with non response to AZA treatment (p = 0. 005) and arthralgia (OR 8. 2353; 95% CI 1. 752-38. 87, p = 0. 0041), as well as between mutant TPMT alleles and myelosuppression (OR 7. 5; 95% CI 1. 4456-38. 91, p = 0. 0304).", "output": {"entities": {"gene": [{"text": "ITPA gene", "start": 97, "end": 106}], "disease": [{"text": "myelosuppression", "start": 262, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we established six mesothelioma cell lines possessing two allele deletions of the p16 (INK4A) gene and one allele deletion of the neurofibromatosis type 2 gene, MM16, MM21, MM26, MM35, MM46 and MM56, from pleural effusion fluids or surgically resected tumors of Japanese patients.", "output": {"entities": {"gene": [{"text": "MM46", "start": 207, "end": 211}], "disease": [{"text": "neurofibromatosis type 2", "start": 152, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Effect of antenatal glucocorticoid administration on insulin-like growth factor I and II levels in hypoplastic lung in nitrofen-induced congenital diaphragmatic hernia in rats.", "output": {"entities": {"gene": [{"text": "insulin-like growth factor I", "start": 53, "end": 81}], "disease": [{"text": "diaphragmatic hernia", "start": 147, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "insulin-like growth factor I", "start": 53, "end": 81}, "tail": {"text": "diaphragmatic hernia", "start": 147, "end": 167}}]}}, "schema": []}
{"input": "Additionally, HGF mRNA was induced in PBMC of a control subject cultured with the sera of recurrent cancer patients.", "output": {"entities": {"gene": [{"text": "HGF", "start": 14, "end": 17}], "disease": [{"text": "recurrent cancer", "start": 90, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The interacting proteins were creatine kinase, Gardner feline sarcoma v-FGR oncogene product, telethonin, SNC73 protein, ferritin light chain, peripheral benzodiazepine receptor, and immunoglobulin C (mu) and C (delta) heavy chain.", "output": {"entities": {"gene": [{"text": "telethonin", "start": 94, "end": 104}], "disease": [{"text": "sarcoma", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Screening of ABCC8 and KCNJ11 for mutations revealed abnormalities in the ABCC8 gene in three patients out of 13: homozygosity for the 155del1 mutation, compound heterozygosity for T267--> G/A4612-2--> G, and compound heterozygosity for G4310--> A/R1494Q.", "output": {"entities": {"gene": [{"text": "ABCC8 gene", "start": 74, "end": 84}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of CD4 + and CD8 + and decreased expression of Foxp3 and IL-17 were detected in nasal polyps compared with control tissue.", "output": {"entities": {"gene": [{"text": "CD4", "start": 24, "end": 27}], "disease": [{"text": "nasal polyps", "start": 101, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In CRC, MR activation may significantly decrease angiogenesis by directly inhibiting dysregulated VEGFA and hypoxia-induced VEGFA mRNA expression.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 98, "end": 103}], "disease": [{"text": "hypoxia", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Cultured human metastatic melanoma cells (A375, G361, LOX) were sensitive to DHA-induced apoptosis with upregulation of cellular oxidative stress, phosphatidylserine externalization, and activational cleavage of procaspase 3.", "output": {"entities": {"gene": [{"text": "LOX", "start": 54, "end": 57}], "disease": [{"text": "metastatic melanoma", "start": 15, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.", "output": {"entities": {"gene": [{"text": "Btk", "start": 28, "end": 31}], "disease": [{"text": "X-linked agammaglobulinemia", "start": 86, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Btk", "start": 28, "end": 31}, "tail": {"text": "X-linked agammaglobulinemia", "start": 86, "end": 113}}]}}, "schema": []}
{"input": "Associations of F2RL3 methylation and smoking with lung cancer incidence/mortality during a median follow-up of 10. 9 years were assessed by Cox regression, controlling for potential confounders.", "output": {"entities": {"gene": [{"text": "F2RL3", "start": 16, "end": 21}], "disease": [{"text": "regression", "start": 145, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "SIRT1 overexpression was associated with CIMP-high (> or = 6 of 8 methylated CIMP-specific promoters, P = 0. 002) and microsatellite instability (MSI)-high phenotype (P < 0. 0001).", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 0, "end": 5}], "disease": [{"text": "microsatellite instability", "start": 118, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "MYBPH was for the first time assessed as a candidate hypertrophy modifying gene.", "output": {"entities": {"gene": [{"text": "MYBPH", "start": 0, "end": 5}], "disease": [{"text": "hypertrophy", "start": 53, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We carried out genome-wide linkage analysis and identified five disease-segregating mutations affecting the CAP-Gly domain of dynactin (encoded by DCTN1) in eight families with Perry syndrome; these mutations diminish microtubule binding and lead to intracytoplasmic inclusions.", "output": {"entities": {"gene": [{"text": "DCTN1", "start": 147, "end": 152}], "disease": [{"text": "Perry syndrome", "start": 177, "end": 191}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DCTN1", "start": 147, "end": 152}, "tail": {"text": "Perry syndrome", "start": 177, "end": 191}}]}}, "schema": []}
{"input": "These findings suggest that adverse intrauterine environments leading to low birth weight also seem to exacerbate the effects of certain DAT1 variants on depression.", "output": {"entities": {"gene": [{"text": "DAT1", "start": 137, "end": 141}], "disease": [{"text": "depression", "start": 154, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In vitro functional studies in HEK293 cells showed that this mutant gene enhanced the activity of the TG and TPO gene promoters (1. 5-fold and 1. 7-fold respectively vs. wild type FOXE1; p & lt; 0. 05), unlike the five mutations previously reported in Bamforth-Lazarus syndrome.", "output": {"entities": {"gene": [{"text": "FOXE1", "start": 180, "end": 185}], "disease": [{"text": "Bamforth-Lazarus syndrome", "start": 252, "end": 277}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXE1", "start": 180, "end": 185}, "tail": {"text": "Bamforth-Lazarus syndrome", "start": 252, "end": 277}}]}}, "schema": []}
{"input": "Interestingly, 18 (81. 8%) out of 22 colorectal carcinoma specimens expressed a higher level of cripto mRNA than that in normal mucosas.", "output": {"entities": {"gene": [{"text": "cripto", "start": 96, "end": 102}], "disease": [{"text": "colorectal carcinoma", "start": 37, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "These findings support a modest role of the DRD3 gene in susceptibility to cocaine dependence.", "output": {"entities": {"gene": [{"text": "DRD3", "start": 44, "end": 48}], "disease": [{"text": "cocaine dependence", "start": 75, "end": 93}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "DRD3", "start": 44, "end": 48}, "tail": {"text": "cocaine dependence", "start": 75, "end": 93}}]}}, "schema": []}
{"input": "We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America.", "output": {"entities": {"gene": [{"text": "BSP", "start": 182, "end": 185}], "disease": [{"text": "primary blepharospasm", "start": 159, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "The t (17; 22) (q22; q13. 1) translocation generates a gene fusion between COL1A1 and PDGFB, which serves as a diagnostic marker of DFSP.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 86, "end": 91}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "C-myc mRNA expression was studied by RT-PCR in peripheral blood of 25 tongue cancer patients and 24 controls.", "output": {"entities": {"gene": [{"text": "C-myc", "start": 0, "end": 5}], "disease": [{"text": "tongue cancer", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In patients with hepatocellular cholestasis, primary biliary cirrhosis, haemochromatosis and non-alcoholic steatohepatitis, using real-time RT-PCR, an enhanced hepatic expression of both SLC23A1 and SLC23A2, but not other organic anions transporters, such as OATP1A2, OATP1B1 and OATP1B3, was found.", "output": {"entities": {"gene": [{"text": "SLC23A2", "start": 199, "end": 206}], "disease": [{"text": "haemochromatosis", "start": 72, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation of the Wt1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations.", "output": {"entities": {"gene": [{"text": "Wt1", "start": 33, "end": 36}], "disease": [{"text": "Denys-Drash syndrome", "start": 50, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Wt1", "start": 33, "end": 36}, "tail": {"text": "Denys-Drash syndrome", "start": 50, "end": 70}}]}}, "schema": []}
{"input": "Furthermore, analysis of the chromatin landscape of the telomerase promoters reveals dynamic recruitment of a transcriptional complex involving the hypoxia-inducible factor-1 transcription factor, p300, RNA polymerase II and TFIIB, to both promoters during hypoxia, which traffics along and remains associated with the hTERT gene as transcription proceeds.", "output": {"entities": {"gene": [{"text": "TFIIB", "start": 225, "end": 230}], "disease": [{"text": "hypoxia", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Familial combined pituitary hormone deficiency (CPHD) appears to have a genetic cause, PROP1 gene mutations being the most common one.", "output": {"entities": {"gene": [{"text": "PROP1 gene", "start": 87, "end": 97}], "disease": [{"text": "pituitary hormone deficiency", "start": 18, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Considering the presence of bilateral 2nd-3rd toe syndactyly and septal heart defects, which is unique to OFCD, the mutation in BCOR is likely to be the major determinant for the phenotypes in this family.", "output": {"entities": {"gene": [{"text": "BCOR", "start": 128, "end": 132}], "disease": [{"text": "toe syndactyly", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The pattern and degree of VEGF-D expression was measured in normal tissue and invasive carcinomas, and expression was correlated with clinicopathological parameters, hypoxia markers, and survival.", "output": {"entities": {"gene": [{"text": "VEGF-D", "start": 26, "end": 32}], "disease": [{"text": "hypoxia", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether hypoxia in vitro and an in vivo model of ischemic stroke would up-regulate IL-20 expression.", "output": {"entities": {"gene": [{"text": "IL-20", "start": 99, "end": 104}], "disease": [{"text": "hypoxia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "A headache questionnaire that assessed the prevalence of significant headaches and diagnosis of migraine and aura by ICHD-2 criteria was administered to 27 individuals at risk for FAD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 180, "end": 183}], "disease": [{"text": "migraine", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "To identify molecular markers of tumor hypoxia and potential therapeutic targets in glioblastoma (GBM), we investigated the hypoxia-related expression of osteopontin (OPN), carbonic anhydrase 9 (CA9), erythropoietin (EPO), vascular endothelial growth factor (VEGF) and hypoxia-inducible factor-1alpha (HIF-1alpha) in vitro in human GBM cell lines and in vivo in human tumor samples of GBM, compared to low-grade astrocytoma (LGA).", "output": {"entities": {"gene": [{"text": "EPO", "start": 217, "end": 220}], "disease": [{"text": "astrocytoma", "start": 412, "end": 423}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, compared to WT, Tie2-CYP2C8 Tr hearts had significantly reduced LVDP recovery (from 21 to 14%) and increased infarct size after I/R (from 51 to 61%).", "output": {"entities": {"gene": [{"text": "Tie2", "start": 30, "end": 34}], "disease": [{"text": "infarct", "start": 123, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Data show that Rai1-transgenic mice have growth retardation, increased locomotor activity, and abnormal anxiety-related behavior compared to wild-type littermates.", "output": {"entities": {"gene": [{"text": "Rai1", "start": 15, "end": 19}], "disease": [{"text": "anxiety", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The Leu72Met (rs696217) polymorphism in GHRL modified the effect of moderate-to-vigorous PA on changes in weight and waist circumference, the-501A/C (rs26802) polymorphism in GHRL modified the effect of total and moderate-to-vigorous PA on change in high-density lipoprotein cholesterol, and the Lys109Arg (rs1137100) polymorphism in LEPR modified the effect of total PA on change in blood pressure.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 334, "end": 338}], "disease": [{"text": "weight", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.", "output": {"entities": {"gene": [{"text": "GATA1", "start": 57, "end": 62}], "disease": [{"text": "Congenital erythropoietic porphyria", "start": 0, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATA1", "start": 57, "end": 62}, "tail": {"text": "Congenital erythropoietic porphyria", "start": 0, "end": 35}}]}}, "schema": []}
{"input": "Women from non-BRCA1/BRCA2 hereditary breast cancer families had a higher age at menarche, but this was no longer significant after adjustment for other factors in a multivariate model.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 21, "end": 26}], "disease": [{"text": "age at menarche", "start": 74, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "CD133 (+) liver tumor-initiating cells promote tumor angiogenesis, growth, and self-renewal through neurotensin/interleukin-8/CXCL1 signaling.", "output": {"entities": {"gene": [{"text": "CXCL1", "start": 126, "end": 131}], "disease": [{"text": "liver tumor", "start": 10, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Moreover, Crhr2-/-mice have elevated basal blood pressure, demonstrating that Crhr2 participates in cardiovascular homeostasis.", "output": {"entities": {"gene": [{"text": "Crhr2", "start": 10, "end": 15}], "disease": [{"text": "blood pressure", "start": 43, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We have performed a systematic review of the literature to analyze the relevance of more VDR polymorphisms (Fok1, Bsm1, Taq1, Apa1, and Cdx2) for individual malignancies, including cancer of the skin (melanoma and nonmelanoma skin cancer), ovarian cancer, renal cell carcinoma, bladder cancer, non-Hodgkin lymphoma, leukemia, thyroid carcinoma, esophageal adenocarcinoma, hepatocellular carcinoma, sarcoma, head and neck and oral squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "Apa1", "start": 126, "end": 130}], "disease": [{"text": "renal cell carcinoma", "start": 256, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "We examined the expression and regulation of the Bcl-2/adenovirus EIB 19-kDa-interacting protein 3 (BNIP3), a pro-apoptotic gene regulated by nitric oxide (NO) in hepatocytes, in NEC.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 100, "end": 105}], "disease": [{"text": "adenovirus", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Using P504S, P63, or antikeratin 34beta E12 antibodies, we found it possible to define areas of transition from hyperplasia to carcinoma in 6 BPH nodules.", "output": {"entities": {"gene": [{"text": "E12", "start": 40, "end": 43}], "disease": [{"text": "hyperplasia", "start": 112, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We found that hypoxia induced HIF-1alpha, CA IX and VEGF expression but not HIF-2alpha in NPC cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 52, "end": 56}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Family-wide loss-of-function analysis found that at least four Gbps--Gbp1, Gbp6, Gbp7, and Gbp10--conferred cell-autonomous immunity to listerial or mycobacterial infection within macrophages and gene-deficient animals.", "output": {"entities": {"gene": [{"text": "Gbp6", "start": 75, "end": 79}], "disease": [{"text": "mycobacterial infection", "start": 149, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Neither the FTO nor ADRB2 genotype had statistically significant effect on weight reduction or weight maintenance.", "output": {"entities": {"gene": [{"text": "FTO", "start": 12, "end": 15}], "disease": [{"text": "weight reduction", "start": 75, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "A p. Arg45Trp mutation in the RP1L1 gene was identified in the OMD patient, in the two symptomatic offspring and also in two of the asymptomatic siblings of the patient.", "output": {"entities": {"gene": [{"text": "RP1L1 gene", "start": 30, "end": 40}], "disease": [{"text": "asymptomatic", "start": 132, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Through a public database search, we found that a number of genes known to be involved in amino acid metabolism, i. e., AGXT, ALDH2, APIP, MTR, DNMT1, ASH1L, ASPA, CAD, DDC, GCDH, DLD, LAP3, MCEE and MUT, harbor mononucleotide repeats that may serve as mutation targets in cancers exhibiting microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "GCDH", "start": 174, "end": 178}], "disease": [{"text": "cancers", "start": 273, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort.", "output": {"entities": {"gene": [{"text": "LAMA3 gene", "start": 32, "end": 42}], "disease": [{"text": "atopic dermatitis", "start": 88, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Using a previously established HN3 cell line from a laryngeal carcinoma patient, we generated a chronically irradiated HN3R isogenic cell line.", "output": {"entities": {"gene": [{"text": "HN3", "start": 31, "end": 34}], "disease": [{"text": "laryngeal carcinoma", "start": 52, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In 30 cases of surgically resected sporadic thyroid cancer, the length of the THRA1 microsatellite was determined by DNA sequence analysis, and expression of thyroid hormone receptor-alpha1 was assessed immunohistochemically in thin sections cut from tumor blocks.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 166, "end": 182}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "It has been reported that PDT induces hypoxia and expression of the vascular endothelial growth factor (VEGF) via the hypoxia-inducible factor 1 (HIF1)-alpha pathway.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 104, "end": 108}], "disease": [{"text": "hypoxia", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Aprataxin forms another discrete branch of the HIT superfamily, is implicated in DNA repair mechanisms and unlike the HINT and FHIT members, a defective protein can be conclusively linked to a disease, ataxia with oculomotor apraxia type 1.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 127, "end": 131}], "disease": [{"text": "ataxia with oculomotor apraxia", "start": 202, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Multiple linear regression analysis identified age (beta = 0. 26, p = 0. 012), being a Kawasaki patient (beta = 0. 22, p = 0. 015), and MBL IL/LL genotype subgroup (beta = 0. 20, p = 0. 03) as significant determinants of arterial stiffness in the entire cohort.", "output": {"entities": {"gene": [{"text": "MBL", "start": 136, "end": 139}], "disease": [{"text": "arterial stiffness", "start": 221, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "The GSTT1-and GSTM1-dependent risk for sporadic colorectal cancer (CRC) was studied in 247 incident CRC cases and 296 hospital-based controls.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 14, "end": 19}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "For detection of chlamydial infection, HC2-RCS had a sensitivity and a specificity similar to those of PCR (P > 0. 5) and an improved sensitivity compared to that of culture (P = 0. 007).", "output": {"entities": {"gene": [{"text": "HC2", "start": 39, "end": 42}], "disease": [{"text": "chlamydial infection", "start": 17, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The two different translocation breakpoints in the AML1 gene with or without splicing out of AML1 exon 3 seemed to result in these four types of transcript in leukaemia samples.", "output": {"entities": {"gene": [{"text": "AML1", "start": 51, "end": 55}], "disease": [{"text": "translocation", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable.", "output": {"entities": {"gene": [{"text": "EVC2", "start": 47, "end": 51}], "disease": [{"text": "EVC", "start": 39, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EVC2", "start": 47, "end": 51}, "tail": {"text": "EVC", "start": 39, "end": 42}}]}}, "schema": []}
{"input": "In conclusion, our findings suggest that HGF modification promotes the amelioration of ischemia/reperfusion-induced rat renal injury via antiapoptotic and antiinflammatory mechanisms; thus, providing a novel therapeutic application for hucMSCs in AKI.", "output": {"entities": {"gene": [{"text": "HGF", "start": 41, "end": 44}], "disease": [{"text": "ischemia", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Lcn2 is a potential novel drug target for early intervention in schizophrenia.", "output": {"entities": {"gene": [{"text": "Lcn2", "start": 0, "end": 4}], "disease": [{"text": "schizophrenia", "start": 64, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Lcn2", "start": 0, "end": 4}, "tail": {"text": "schizophrenia", "start": 64, "end": 77}}]}}, "schema": []}
{"input": "Therefore, vaccination strategies inducing such RHAMM-R3-directed effector T cells might be a promising approach to enhance specific immune responses against CML cells.", "output": {"entities": {"gene": [{"text": "RHAMM", "start": 48, "end": 53}], "disease": [{"text": "CML", "start": 158, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RHAMM", "start": 48, "end": 53}, "tail": {"text": "CML", "start": 158, "end": 161}}]}}, "schema": []}
{"input": "We discovered a novel mutation in MTTP gene and we confirmed the diagnosis of abetalipoproteinemia in new Tunisian families.", "output": {"entities": {"gene": [{"text": "MTTP", "start": 34, "end": 38}], "disease": [{"text": "abetalipoproteinemia", "start": 78, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTTP", "start": 34, "end": 38}, "tail": {"text": "abetalipoproteinemia", "start": 78, "end": 98}}]}}, "schema": []}
{"input": "Having a high IGF-I/IGFBP-3 ratio was associated with increased persistence of oncogenic HPV infection [that is, a lower rate of clearance; adjusted hazard ratio (AHR), 0. 14; 95% confidence interval (95% CI), 0. 04-0. 57], whereas IGFBP-3 was inversely associated with both the incident detection of oncogenic HPV (AHR, 0. 35; 95% CI, 0. 13-0. 93) and the incidence of oncogenic HPV-positive cervical neoplasia (that is, squamous intraepithelial lesions at risk of progression; AHR, 0. 07; 95% CI, 0. 01-0. 66).", "output": {"entities": {"gene": [{"text": "AHR", "start": 163, "end": 166}], "disease": [{"text": "squamous intraepithelial lesions", "start": 422, "end": 454}]}, "relations": {}}, "schema": []}
{"input": "Alveolar epithelial beta-adrenergic receptor (betaAR) activation accelerates active Na + transport in lung epithelial cells in vitro and speeds alveolar edema resolution in human lung tissue and normal and injured animal lungs.", "output": {"entities": {"gene": [{"text": "beta-adrenergic receptor", "start": 20, "end": 44}], "disease": [{"text": "edema", "start": 153, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "To better define the abnormalities of parathyroid function in FBH and primary hyperparathyroidism (1 degree HPT), we used a two-site immunochemiluminometric assay for intact PTH to examine PTH suppressibility in normal individuals and patients having FBH or 1 degree HPT.", "output": {"entities": {"gene": [{"text": "FBH", "start": 62, "end": 65}], "disease": [{"text": "abnormalities", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In the present study, mangiferin notably restrained the proliferation and increased the apoptosis of the U87 glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 105, "end": 108}], "disease": [{"text": "glioma", "start": 109, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "TLR3/4 signaling is mediated via the NFκB-CXCR4/7 pathway in human alcoholic hepatitis and non-alcoholic steatohepatitis which formed Mallory-Denk bodies.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 42, "end": 47}], "disease": [{"text": "alcoholic steatohepatitis", "start": 95, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "In contrast, ATF3 or ATF4 overexpression in nucleus accumbens decreases emotional reactivity and increases depression-like behavior, consistent with the behavioral phenotype induced by CREB.", "output": {"entities": {"gene": [{"text": "ATF4", "start": 21, "end": 25}], "disease": [{"text": "depression", "start": 107, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATF4", "start": 21, "end": 25}, "tail": {"text": "depression", "start": 107, "end": 117}}]}}, "schema": []}
{"input": "The remaining Hspg2-/-mice died just after birth with skeletal dysplasia characterized by micromelia with broad and bowed long bones, narrow thorax and craniofacial abnormalities.", "output": {"entities": {"gene": [{"text": "Hspg2", "start": 14, "end": 19}], "disease": [{"text": "skeletal dysplasia", "start": 54, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hspg2", "start": 14, "end": 19}, "tail": {"text": "skeletal dysplasia", "start": 54, "end": 72}}]}}, "schema": []}
{"input": "TRIP6 regulates the membrane translocation and activation of AKT and facilitates AKT-mediated recognition and phosphorylation of p27 (KIP1) specifically at T157, thereby promoting the cytosolic mislocalization of p27 (KIP1).", "output": {"entities": {"gene": [{"text": "AKT", "start": 61, "end": 64}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "131 HA-TTR patients from a single referral centre presented at onset five major clinical syndromes: (1) the typical \" Portuguese variant \" axonal polyneuropathy with dissociated (syringomyelic like) sensory loss and autonomic dysfunction; (2) bilateral carpal tunnel syndrome; (3) restless leg syndrome with impotence and unexplained loss of weight; (4) pure motor neuropathy without autonomic abnormalities; (5) recurrent small brain or spinal cord ischemia or haemorrhages with leptomeningeal amyloid deposition (and late superficial siderosis of the central nervous system) and vitreous deposits.", "output": {"entities": {"gene": [{"text": "TTR", "start": 7, "end": 10}], "disease": [{"text": "sensory loss", "start": 199, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Smad interacting protein 1 (SIP1) is an epithelial-mesenchymal transition (EMT)-inducible gene that plays a key role in tumor progression in various cancers.", "output": {"entities": {"gene": [{"text": "EMT", "start": 75, "end": 78}], "disease": [{"text": "tumor progression", "start": 120, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 30, "end": 35}], "disease": [{"text": "Roussy-Levy syndrome", "start": 58, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 30, "end": 35}, "tail": {"text": "Roussy-Levy syndrome", "start": 58, "end": 78}}]}}, "schema": []}
{"input": "Elevated FGF23 concentrations are associated with hypophosphatemia in ADHR, and remission of the phenotype is associated with lower FGF23 concentrations.", "output": {"entities": {"gene": [{"text": "ADHR", "start": 70, "end": 74}], "disease": [{"text": "hypophosphatemia", "start": 50, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "GRIK2", "start": 40, "end": 45}], "disease": [{"text": "glioblastoma multiforme", "start": 157, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIK2", "start": 40, "end": 45}, "tail": {"text": "glioblastoma multiforme", "start": 157, "end": 180}}]}}, "schema": []}
{"input": "Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.", "output": {"entities": {"gene": [{"text": "SLC4A11", "start": 19, "end": 26}], "disease": [{"text": "corneal endothelial dystrophy", "start": 84, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC4A11", "start": 19, "end": 26}, "tail": {"text": "corneal endothelial dystrophy", "start": 84, "end": 113}}]}}, "schema": []}
{"input": "We have also previously reported that offspring of obese rat dams develop hepatic steatosis, mild hyperinsulinemia, and a lipogenic gene signature in the liver at postnatal day (PND) 21.", "output": {"entities": {"gene": [{"text": "PND", "start": 178, "end": 181}], "disease": [{"text": "hepatic steatosis", "start": 74, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Genomic deletion and duplication of TBX2 gene have been associated with cardiac defects.", "output": {"entities": {"gene": [{"text": "TBX2 gene", "start": 36, "end": 45}], "disease": [{"text": "cardiac defects", "start": 72, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In lymphoid cells, KOR-SA3544 was reactive with all of Ph1-positive ALL (26/26), a part of common ALL (5/38) and one case of early B precursor leukemia with 11q23 translocation, but not with peripheral lymphocytes.", "output": {"entities": {"gene": [{"text": "KOR", "start": 19, "end": 22}], "disease": [{"text": "translocation", "start": 163, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Gene expression analysis revealed upregulation of a set of immune-associated transcripts associated with inflammation and tumorigenesis in cells in which NQO1 was attenuated, with IL8 confirmed functionally in cell culture as one key NQO1-supported cytokine.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 154, "end": 158}], "disease": [{"text": "inflammation", "start": 105, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The PCH5 patient was found to be the result of compound heterozygosity for the common TSEN54 mutation (p. A307S) plus a novel splice site mutation.", "output": {"entities": {"gene": [{"text": "TSEN54", "start": 86, "end": 92}], "disease": [{"text": "PCH5", "start": 4, "end": 8}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSEN54", "start": 86, "end": 92}, "tail": {"text": "PCH5", "start": 4, "end": 8}}]}}, "schema": []}
{"input": "Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.", "output": {"entities": {"gene": [{"text": "FOXG1", "start": 38, "end": 43}], "disease": [{"text": "Atypical Rett syndrome", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXG1", "start": 38, "end": 43}, "tail": {"text": "Atypical Rett syndrome", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "The Balb/c strain exhibits a remarkable long lasting tolerance to alcohol injury for striatal and hippocampal cholinergic markers (choline acetyltransferase, high affinity choline uptake, muscarinic receptors affinity, acetyl cholinesterase), whereas C57Bl mice appear more sensitive to alcohol intoxication.", "output": {"entities": {"gene": [{"text": "choline acetyltransferase", "start": 131, "end": 156}], "disease": [{"text": "alcohol intoxication", "start": 287, "end": 307}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "choline acetyltransferase", "start": 131, "end": 156}, "tail": {"text": "alcohol intoxication", "start": 287, "end": 307}}]}}, "schema": []}
{"input": "Altered chromatin modifications in AML1/RUNX1 breakpoint regions involved in (8; 21) translocation.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 40, "end": 45}], "disease": [{"text": "translocation", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We have identified an association between the haplotype HLA-DRB1 * 1101, DQA1 * 0501, DQB1 * 0301 and atopic asthma that confers susceptibility to develop mite-sensitive asthma to atopics (relative risk, RR 8. 2), and to non-atopic controls (RR = 15. 8) that carry this haplotype.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 56, "end": 64}], "disease": [{"text": "atopic", "start": 102, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Sequencing analysis of SEC23B gene in 13 CDAII patients from 10 families revealed 12 different mutations: six missense (c. 40C & gt; T, c. 325G & gt; A, c. 1043A & gt; C, c. 1489C & gt; T, c. 1808C & gt; T, and c. 2101C & gt; T), two frameshift (c. 428_428delAinsCG and c. 1821delT), one splicing (c. 689 + 1G & gt; A), and three nonsense (c. 568C & gt; T, c. 649C & gt; T, and c. 1660C & gt; T).", "output": {"entities": {"gene": [{"text": "SEC23B", "start": 23, "end": 29}], "disease": [{"text": "CDAII", "start": 41, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEC23B", "start": 23, "end": 29}, "tail": {"text": "CDAII", "start": 41, "end": 46}}]}}, "schema": []}
{"input": "In miR-34a mimics group, human U87 glioma cells were transfected with miR-34a mimics by using lipofectamine 2000.", "output": {"entities": {"gene": [{"text": "U87", "start": 31, "end": 34}], "disease": [{"text": "glioma", "start": 35, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Initial univariate analysis of the IL-6-174G > C polymorphism and carotid plaque showed no association in the whole sample.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 35, "end": 39}], "disease": [{"text": "plaque", "start": 74, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis among the Chinese Kazakh population: a case-control study.", "output": {"entities": {"gene": [{"text": "HLA-DQB1 gene", "start": 27, "end": 40}], "disease": [{"text": "susceptibility to tuberculosis", "start": 58, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Herein, we show that negative SMARCB1/INI1 expression (11% of CRCs) associates with loss of CDX2, poor differentiation, liver metastasis and shorter patients' survival regardless of the MMR status or tumor stage.", "output": {"entities": {"gene": [{"text": "INI1", "start": 38, "end": 42}], "disease": [{"text": "liver metastasis", "start": 120, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The improved cognitive functions could be attributed to increased synaptic connections and plasticity, which was confirmed by the modulation of the γ-aminobutyric acid receptor system and the elevated expression of microtubule-associated protein 2, synaptophysin and Slc17a7 (vesicle glutamate transporter, Vglut1), as well as by the inhibition of Cdh2 cleavage.", "output": {"entities": {"gene": [{"text": "Vglut1", "start": 307, "end": 313}], "disease": [{"text": "vesicle", "start": 276, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "On the other hand we didn' t find any difference between the two groups concerning the ACE gene polymorphism as well as any relation of ACE gene and thickness of interventricular septum and interventricular left ventricular mass.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 87, "end": 95}], "disease": [{"text": "left ventricular mass", "start": 207, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Moreover, current-smoking was found to be a significant risk factor for an increased peak CK level in the ALDH2 * 2 allele carriers (B 2220. 2IU/L, p = 0. 008), but not the non-carriers.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 106, "end": 111}], "disease": [{"text": "smoking", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "We report on a female patient with XY sex reversal with clitoromegaly, neonatal male testosterone and AMH levels, and a normal urine steroid profile.", "output": {"entities": {"gene": [{"text": "AMH", "start": 102, "end": 105}], "disease": [{"text": "sex reversal", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "In an analysis of 151 white patients with mild, moderate, or severe asthma (Global Initiative for Asthma criteria), a significant association was found between mild asthma and the low-expression, 5-CATT MIF allele.", "output": {"entities": {"gene": [{"text": "MIF", "start": 203, "end": 206}], "disease": [{"text": "mild", "start": 42, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.", "output": {"entities": {"gene": [{"text": "DTDST", "start": 85, "end": 90}], "disease": [{"text": "Autosomal recessive multiple epiphyseal dysplasia", "start": 0, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DTDST", "start": 85, "end": 90}, "tail": {"text": "Autosomal recessive multiple epiphyseal dysplasia", "start": 0, "end": 49}}]}}, "schema": []}
{"input": "In contrast, necrosis of gene-modified tumor cells abrogates costimulation of T cells by CD80-expressing cells.", "output": {"entities": {"gene": [{"text": "CD80", "start": 89, "end": 93}], "disease": [{"text": "necrosis", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "This protein-protein interaction is likely to be relevant for the development of Ewing' s sarcoma because mutations in NR0B1 that disrupt the interaction have transcriptional consequences and also abrogate oncogenic transformation.", "output": {"entities": {"gene": [{"text": "NR0B1", "start": 119, "end": 124}], "disease": [{"text": "sarcoma", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Our results link the ETO chromosomal translocation in AML with modifications in the intranuclear trafficking of the key hematopoietic regulatory factor, AML1.", "output": {"entities": {"gene": [{"text": "AML1", "start": 153, "end": 157}], "disease": [{"text": "chromosomal translocation", "start": 25, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "To investigate the genotype and phenotype in families with adenosine triphosphate-binding cassette, sub-family A, member 4 (ABCA4)-associated retinal degeneration.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 124, "end": 129}], "disease": [{"text": "retinal degeneration", "start": 142, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Across mice from different transgenic lines, the density of SYN-IR presynaptic terminals correlated inversely with Abeta levels but not with hAPP levels or plaque load.", "output": {"entities": {"gene": [{"text": "SYN", "start": 60, "end": 63}], "disease": [{"text": "plaque", "start": 156, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Eight of the eyes underwent in situ hybridization with a specific VEGF mRNA probe to locate tumor and retinal cells that may produce this hypoxia-induced angiogenic factor.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 66, "end": 70}], "disease": [{"text": "hypoxia", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Several transcription factors have emerged in recent years that induce EMT, with important implications for tumour progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 71, "end": 74}], "disease": [{"text": "tumour progression", "start": 108, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Herein, we describe a pyrosequencing-based approach to IDH1 and IDH2 mutation testing and its application to 139 neoplastic and non-neoplastic central nervous system specimens.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 55, "end": 59}], "disease": [{"text": "non-neoplastic", "start": 128, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The primary goal of this case study was to describe the speech, prosody, and voice characteristics of a mother and daughter with a breakpoint in a balanced 7; 13 chromosomal translocation that disrupted the transcription gene, FOXP2 (cf.", "output": {"entities": {"gene": [{"text": "FOXP2", "start": 227, "end": 232}], "disease": [{"text": "chromosomal translocation", "start": 162, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The incidence of PAP overexpression was significantly higher in pancreatic cancer than in the other pancreatic diseases (P < 0. 01).", "output": {"entities": {"gene": [{"text": "PAP", "start": 17, "end": 20}], "disease": [{"text": "pancreatic diseases", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Proinflammatory cytokines, IL-1 and IL-6, have been shown to play essential roles in developmental stages of coronary artery plaque formation.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 36, "end": 40}], "disease": [{"text": "plaque", "start": 125, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Finally, from the extensive analysis of the PRODH gene coding sequence variations, it is predicted that POX residual activity in the 0-30% range results into HPI, whereas residual activity in the 30-50% range is associated either with normal plasma proline levels or with mild-to-moderate hyperprolinemia.", "output": {"entities": {"gene": [{"text": "PRODH", "start": 44, "end": 49}], "disease": [{"text": "HPI", "start": 158, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRODH", "start": 44, "end": 49}, "tail": {"text": "HPI", "start": 158, "end": 161}}]}}, "schema": []}
{"input": "YB-1 inactivation in human sarcoma cells dramatically reduces G3BP1 and SG formation in vitro.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 0, "end": 4}], "disease": [{"text": "sarcoma", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Pretreatment with adenovirus-mediated antisense GRP94 (AdGRP94AS) led to reduced viability of SY5Y cells after being subjected to H/R compared with wild-type cells or cells with adenovirus-mediated overexpression of GRP94 (AdGRP94S).", "output": {"entities": {"gene": [{"text": "GRP94", "start": 48, "end": 53}], "disease": [{"text": "adenovirus", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "PBMCs of patients newly diagnosed with metastatic melanoma were incubated with different doses of recombinant human IL-15 and tested against autologous tumor cells, LAK sensitive cell lines (i. e., FMEX and Daudi), as well as the natural killer-sensitive cell line K562, in a 15-h 51Cr release assay.", "output": {"entities": {"gene": [{"text": "IL-15", "start": 116, "end": 121}], "disease": [{"text": "metastatic melanoma", "start": 39, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the G--& gt; A substitution at position-119 of the AFP gene is the mutation causing HPAFP in this family.", "output": {"entities": {"gene": [{"text": "AFP", "start": 68, "end": 71}], "disease": [{"text": "HPAFP", "start": 101, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AFP", "start": 68, "end": 71}, "tail": {"text": "HPAFP", "start": 101, "end": 106}}]}}, "schema": []}
{"input": "The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA).", "output": {"entities": {"gene": [{"text": "IMPDH1", "start": 58, "end": 64}], "disease": [{"text": "Leber congenital amaurosis", "start": 272, "end": 298}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IMPDH1", "start": 58, "end": 64}, "tail": {"text": "Leber congenital amaurosis", "start": 272, "end": 298}}]}}, "schema": []}
{"input": "We detected seven deleterious mutations within a gene predicted from a human transcript (FLJ20071) in 10 DMC families.", "output": {"entities": {"gene": [{"text": "FLJ20071", "start": 89, "end": 97}], "disease": [{"text": "DMC", "start": 105, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLJ20071", "start": 89, "end": 97}, "tail": {"text": "DMC", "start": 105, "end": 108}}]}}, "schema": []}
{"input": "Also, expression of IFN-γ of non-necrotizing granulomas was significantly higher than that of necrotizing granulomas in the hyperplasia group, and expression of TGF-β in necrotizing granulomas was significantly higher than that of non-necrotizing granulomas in the necrosis group.", "output": {"entities": {"gene": [{"text": "IFN", "start": 20, "end": 23}], "disease": [{"text": "granulomas", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "In humans, MPV17 mutations are responsible for severe mitochondrial depletion syndrome, mainly affecting the liver and the nervous system.", "output": {"entities": {"gene": [{"text": "MPV17", "start": 11, "end": 16}], "disease": [{"text": "nervous system", "start": 123, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Among the peripheral blood mononuclear cells (PBMCs) of vitiligo patients, CD8 + cytotoxic T lymphocytes (CTLs) that express IFN-γ exhibited significant expansion, which suggests that activated CTLs are the main source of increased IFN-γ in progressive vitiligo.", "output": {"entities": {"gene": [{"text": "CD8", "start": 75, "end": 78}], "disease": [{"text": "progressive vitiligo", "start": 241, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "No other amygdala nuclei studied showed any significant differences for the prodynorphin mRNA levels measured in the major depression and bipolar disorder subjects.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 76, "end": 88}], "disease": [{"text": "major depression", "start": 117, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 76, "end": 88}, "tail": {"text": "major depression", "start": 117, "end": 133}}]}}, "schema": []}
{"input": "We examined whether adrenomedullin, a vasoactive peptide expressed in the heart, modulates the increase in blood pressure, changes in systolic and diastolic function, and left ventricular hypertrophy produced by long-term administration of ANG II or norepinephrine in rats.", "output": {"entities": {"gene": [{"text": "ANG", "start": 240, "end": 243}], "disease": [{"text": "ventricular hypertrophy", "start": 176, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that exposure to hypoxia (10% O2) for 3-weeks increased levels of miR-27a and ET-1 in the lungs of C57BL/6 mice and reduced PPARγ levels.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 148, "end": 153}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Our data assert BCD syndrome as a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1 and widen the phenotypic spectrum of E-cadherin anomalies. Genet Med advance online publication 09 March 2017.", "output": {"entities": {"gene": [{"text": "CTNND1", "start": 93, "end": 99}], "disease": [{"text": "BCD syndrome", "start": 16, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTNND1", "start": 93, "end": 99}, "tail": {"text": "BCD syndrome", "start": 16, "end": 28}}]}}, "schema": []}
{"input": "This cross-sectional analysis examined the relation between mammographic density and the CYP1A2 * 1F and COMT Val58 Met polymorphisms among 332 breast cancer cases and 254 controls in the Hawaii component of the Multiethnic Cohort.", "output": {"entities": {"gene": [{"text": "CYP1A2", "start": 89, "end": 95}], "disease": [{"text": "mammographic density", "start": 60, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We conclude that highly proliferative renal cell carcinomas outgrow their vascular supply and develop chronic hypoxia inducing a decrease of proliferation and an increase of VEGF expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 174, "end": 178}], "disease": [{"text": "hypoxia", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We found significant changes in the expression of NF-L in DLPFC, and PSD-95 and PSD-93 in ACC; increased transcript expression was associated with decreased protein expression, suggesting abnormal translation and/or accelerated protein degradation of these molecules in schizophrenia.", "output": {"entities": {"gene": [{"text": "NF-L", "start": 50, "end": 54}], "disease": [{"text": "schizophrenia", "start": 270, "end": 283}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NF-L", "start": 50, "end": 54}, "tail": {"text": "schizophrenia", "start": 270, "end": 283}}]}}, "schema": []}
{"input": "Promoter methylation status of the MGMT, hMLH1, and CDKN2A/p16 genes in non-neoplastic mucosa of patients with and without colorectal adenomas.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 35, "end": 39}], "disease": [{"text": "non-neoplastic", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Tetraspanin protein CD151 is overexpressed in a wide variety of cancer types, including lung cancer, and is closely associated with metastasis and poor prognosis of carcinoma.", "output": {"entities": {"gene": [{"text": "CD151", "start": 20, "end": 25}], "disease": [{"text": "carcinoma", "start": 165, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Urinary COL1A1 mRNA level correlates with proteinuria, glomerular and interstitial fibrosis, and inversely with estimated glomerular filtration rate (GFR); urinary fibronectin mRNA level significantly correlates with glomerular and interstitial fibrosis, and inversely with estimated GFR.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 8, "end": 14}], "disease": [{"text": "proteinuria", "start": 42, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "This study compares the histologic phenotype of juvenile polyps with a SMAD4 or BMPR1A germline mutation and sporadic juvenile polyps.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 80, "end": 86}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.", "output": {"entities": {"gene": [{"text": "RAB3GAP1", "start": 21, "end": 29}], "disease": [{"text": "Martsolf syndrome", "start": 117, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAB3GAP1", "start": 21, "end": 29}, "tail": {"text": "Martsolf syndrome", "start": 117, "end": 134}}]}}, "schema": []}
{"input": "RUNX3 expression enhanced serum starvation-induced apoptosis in HCC cell lines.", "output": {"entities": {"gene": [{"text": "HCC", "start": 64, "end": 67}], "disease": [{"text": "starvation", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Examine the relationships between allelic variants of the catechol-O-methyltransferase (COMT) gene, NS personality traits, and age of onset of drug use in heroin-dependent subjects in China.", "output": {"entities": {"gene": [{"text": "COMT", "start": 88, "end": 92}], "disease": [{"text": "personality traits", "start": 103, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We sought to define the mutation spectrum of the CASR gene in a Danish FHH population and to establish genotype-phenotype relationships regarding the different mutations.", "output": {"entities": {"gene": [{"text": "CASR", "start": 49, "end": 53}], "disease": [{"text": "FHH", "start": 71, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CASR", "start": 49, "end": 53}, "tail": {"text": "FHH", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "Genes expressed more abundantly in R + cells are associated with (1) tumour growth and metastasis including, betaigH3, mts1, igfbp5 protease, and mystique; (2) cell division, including cyclin A1 and cdk1; (3) signal transduction, including pkcdeltabp and lmw-ptp; and (4) metabolism including ATPase H + transporter and ferritin.", "output": {"entities": {"gene": [{"text": "igfbp5", "start": 125, "end": 131}], "disease": [{"text": "ptp", "start": 259, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, several genes (TESK2, TIPARP, THEMIS, ABLIM1, RFX4, STON2 and LILRA1) are associated with three personality traits with p & #8201; & lt; & #8201; 10 (-3) using single trait analysis and AD.", "output": {"entities": {"gene": [{"text": "RFX4", "start": 61, "end": 65}], "disease": [{"text": "AD", "start": 201, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RFX4", "start": 61, "end": 65}, "tail": {"text": "AD", "start": 201, "end": 203}}]}}, "schema": []}
{"input": "By using a murine model of bacteria-induced typhlocolitis, we investigated the role of IL-17A, IL-17F, and IL-22 in cecal versus colonic inflammation.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 95, "end": 101}], "disease": [{"text": "inflammation", "start": 137, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "It is also uncertain how plasma PTH levels are related to the severity of biochemical abnormalities in FBH.", "output": {"entities": {"gene": [{"text": "FBH", "start": 103, "end": 106}], "disease": [{"text": "abnormalities", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Cells were cultured under normoxic (21% O (2)) or hypoxic (5% O (2)) conditions for up to 48 h. The accumulation of BNP, atrial natriuretic peptide (ANP), and vascular endothelial growth factor (VEGF) was then measured.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 195, "end": 199}], "disease": [{"text": "hypoxic", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We also screened the CSX/NKX2-5 gene in sporadic and familial cases of other cardiopathies.", "output": {"entities": {"gene": [{"text": "NKX2-5 gene", "start": 25, "end": 36}], "disease": [{"text": "sporadic", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "IR-ACTH, IR-gamma MSH, and IR-beta END were detected in all six pheochromocytomas and all 12 lung tumors (six squamous cell carcinomas, five adenocarcinomas, and one small cell carcinoma) we examined, as well as in a squamous cell carcinoma of the larynx.", "output": {"entities": {"gene": [{"text": "END", "start": 35, "end": 38}], "disease": [{"text": "small cell carcinoma", "start": 166, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "The frequency of MAT1 overexpression was 100% (7/7) in primary ovarian carcinoma with metastasis but only 38. 5% (5/13) in those without metastasis (P = 0. 0103).", "output": {"entities": {"gene": [{"text": "MAT1", "start": 17, "end": 21}], "disease": [{"text": "metastasis", "start": 86, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that VEGF is one of the principal factors produced by hypoxic myocytes that is responsible for the induction of endothelial cell COX-2 expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 27, "end": 31}], "disease": [{"text": "hypoxic", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Functional and co-immunoprecipitation experiments demonstrated the existence of a multiprotein complex (Sp1. Smad3. HIF-1) on the endoglin promoter, mediating the cooperation between the hypoxia and TGF-beta pathways.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 199, "end": 207}], "disease": [{"text": "hypoxia", "start": 187, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical and flow cytometric analyses characterized surface expression of c-Kit on mast cells in tissues obtained from patients with idiopathic pulmonary fibrosis, systemic sclerosis, sarcoidosis, and lymphangioleiomyomatosis, thus identifying a unique immunophenotype not shared by normal lung mast cells.", "output": {"entities": {"gene": [{"text": "c-Kit", "start": 85, "end": 90}], "disease": [{"text": "sarcoidosis", "start": 195, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "We present the case of a 51-year-old woman with a diagnosis of monophasic synovial sarcoma in which chromosome banding analysis did not reveal the presence of the typical t (X; 18) (p11. 2; q11. 2), but instead found monosomy of chromosomes X and 18 and a marker chromosome.", "output": {"entities": {"gene": [{"text": "p11", "start": 182, "end": 185}], "disease": [{"text": "monophasic synovial sarcoma", "start": 63, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.", "output": {"entities": {"gene": [{"text": "carbohydrate sulfotransferase 3", "start": 40, "end": 71}], "disease": [{"text": "humero-spinal dysostosis", "start": 116, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "carbohydrate sulfotransferase 3", "start": 40, "end": 71}, "tail": {"text": "humero-spinal dysostosis", "start": 116, "end": 140}}]}}, "schema": []}
{"input": "We investigated the relationship between a point mutation (D327N) in SHBG gene exon 8 that delays human SHBG half-life and a pentanucleotide repeat polymorphism [PNRP (TAAAA) (n)] in the SHBG gene 5' untranslated region that influences transcription in vitro, on the one hand, and SHBG levels on the other, in a population of 303 women referred for hirsutism.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 69, "end": 73}], "disease": [{"text": "hirsutism", "start": 349, "end": 358}]}, "relations": {}}, "schema": []}
{"input": "The protein product of the proto-oncogene bcl-2, originally discovered by virtue of its chromosomal translocation in human follicular centre B cell lymphoma, is a physiological inhibitor of programmed cell death, apoptosis.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 42, "end": 47}], "disease": [{"text": "chromosomal translocation", "start": 88, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, low-dose simvastatin therapy significantly improves survival and cardiac function and reduces both cardiac hypertrophy and pulmonary edema via an eNOS-dependent mechanism in a murine model of CHF.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 161, "end": 165}], "disease": [{"text": "cardiac hypertrophy", "start": 114, "end": 133}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "eNOS", "start": 161, "end": 165}, "tail": {"text": "cardiac hypertrophy", "start": 114, "end": 133}}]}}, "schema": []}
{"input": "Relative numbers of DLX1-and SHOX2-positive neurons in patients with schizophrenia and bipolar disorder with history of psychosis compared with psychiatric and nonpsychiatric controls.", "output": {"entities": {"gene": [{"text": "DLX1", "start": 20, "end": 24}], "disease": [{"text": "schizophrenia", "start": 69, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DLX1", "start": 20, "end": 24}, "tail": {"text": "schizophrenia", "start": 69, "end": 82}}]}}, "schema": []}
{"input": "HCMV suppressed expression of the focal-adhesion-associated proteins Hic-5, paxillin, and alpha-actinin.", "output": {"entities": {"gene": [{"text": "Hic-5", "start": 69, "end": 74}], "disease": [{"text": "adhesion", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of p16 and Id1 status and endogenous reference genes in human chondrosarcoma by real-time PCR.", "output": {"entities": {"gene": [{"text": "Id1", "start": 22, "end": 25}], "disease": [{"text": "chondrosarcoma", "start": 73, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "These data imply that endogenous CNTF plays a pivotal role for the structural maintenance of hippocampal functions and thus has an important impact on the modulation of affective behavior in rodent models of anxiety and depression.", "output": {"entities": {"gene": [{"text": "CNTF", "start": 33, "end": 37}], "disease": [{"text": "depression", "start": 220, "end": 230}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNTF", "start": 33, "end": 37}, "tail": {"text": "depression", "start": 220, "end": 230}}]}}, "schema": []}
{"input": "The present results suggest an absence of association between IL-6, TNF-A and LT-A polymorphisms and subject-based clinical behaviour of the gingiva in response to de novo plaque accumulation.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 62, "end": 66}], "disease": [{"text": "plaque", "start": 172, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Crosstalk between monocytes and renal mesangial cells via interaction of metalloproteinases and fractalkine in diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "fractalkine", "start": 96, "end": 107}], "disease": [{"text": "diabetic nephropathy", "start": 111, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Expression and superoxide generation of the membrane components of NADPH oxidase, p22 (phox) and gp91 (phox), in the neointima were also suppressed by Ad-PEDF.", "output": {"entities": {"gene": [{"text": "p22", "start": 82, "end": 85}], "disease": [{"text": "neointima", "start": 117, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Two Dutch kindreds with intrafamilial characteristics of both the Cockayne-Touraine type and Bart' s syndrome of autosomal dominant dystrophic epidermolysis bullosa have been studied.", "output": {"entities": {"gene": [{"text": "Bart' s", "start": 93, "end": 100}], "disease": [{"text": "dominant dystrophic epidermolysis bullosa", "start": 123, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In this study, high frequency of microsatellite instability was found in D3S966 which was 28. 6% of informative cases; this reveals the possibility of mutations of MMR genes in this region.", "output": {"entities": {"gene": [{"text": "MMR", "start": 164, "end": 167}], "disease": [{"text": "microsatellite instability", "start": 33, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The detection rate of the FISH split-signal was 84% (129/154 cases) for the translocation-associated soft tissue tumors, such as Ewing' s sarcoma/primitive neuroectodermal tumor, synovial sarcoma, alveolar rhabdomyosarcoma, myxoid liposarcoma, clear cell sarcoma and so forth.", "output": {"entities": {"gene": [{"text": "FISH", "start": 26, "end": 30}], "disease": [{"text": "clear cell sarcoma", "start": 244, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "These findings collectively demonstrate that SETD2 mutations drive tumorigenesis by coordinated disruption of the epigenome and transcriptome, and they have important implications for future therapeutic strategies targeting chromatin regulator mutant tumors.", "output": {"entities": {"gene": [{"text": "SETD2", "start": 45, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.", "output": {"entities": {"gene": [{"text": "FLVCR1", "start": 96, "end": 102}], "disease": [{"text": "Posterior column ataxia with retinitis pigmentosa", "start": 0, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLVCR1", "start": 96, "end": 102}, "tail": {"text": "Posterior column ataxia with retinitis pigmentosa", "start": 0, "end": 49}}]}}, "schema": []}
{"input": "Two NLRP3 SNPs (rs4612666 and rs10754558) were significantly associated with susceptibility to food-induced anaphylaxis (P =. 00086 and P =. 00068, respectively).", "output": {"entities": {"gene": [{"text": "NLRP3", "start": 4, "end": 9}], "disease": [{"text": "anaphylaxis", "start": 108, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NLRP3", "start": 4, "end": 9}, "tail": {"text": "anaphylaxis", "start": 108, "end": 119}}]}}, "schema": []}
{"input": "The Balb/c strain exhibits a remarkable long lasting tolerance to alcohol injury for striatal and hippocampal cholinergic markers (choline acetyltransferase, high affinity choline uptake, muscarinic receptors affinity, acetyl cholinesterase), whereas C57Bl mice appear more sensitive to alcohol intoxication.", "output": {"entities": {"gene": [{"text": "cholinesterase", "start": 226, "end": 240}], "disease": [{"text": "alcohol intoxication", "start": 287, "end": 307}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cholinesterase", "start": 226, "end": 240}, "tail": {"text": "alcohol intoxication", "start": 287, "end": 307}}]}}, "schema": []}
{"input": "This translocation fuses TEL and AML1, two genes previously cloned from translocation breakpoints in myeloid leukemias.", "output": {"entities": {"gene": [{"text": "AML1", "start": 33, "end": 37}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "New mitochondrial DNA mutations were discovered in the cytochrome c oxidase subunit III gene in 8 independent Leber hereditary optic neuropathy probands.", "output": {"entities": {"gene": [{"text": "cytochrome c oxidase subunit III", "start": 55, "end": 87}], "disease": [{"text": "Leber hereditary optic neuropathy", "start": 110, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cytochrome c oxidase subunit III", "start": 55, "end": 87}, "tail": {"text": "Leber hereditary optic neuropathy", "start": 110, "end": 143}}]}}, "schema": []}
{"input": "These data suggest distinct roles of the GluN2A subunit as whole vs. its intracellular domain in modulating anxiety and depression-like symptoms and reveal differential molecular targets for the therapy of mood and anxiety disorders.", "output": {"entities": {"gene": [{"text": "GluN2A", "start": 41, "end": 47}], "disease": [{"text": "depression", "start": 120, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GluN2A", "start": 41, "end": 47}, "tail": {"text": "depression", "start": 120, "end": 130}}]}}, "schema": []}
{"input": "After the in vitro functional screening using adenovirus transfections of 12 genes into rat cardiomyocytes, we generated gene-targeting mice of five candidate genes, namely, MYLK3, GPR37L1, GPR35, MMP23, and NBC1.", "output": {"entities": {"gene": [{"text": "GPR35", "start": 190, "end": 195}], "disease": [{"text": "adenovirus", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The further study of the mechanism showed that PEDF inhibited hypoxia-induced increases in VEGF promoter activity, HIF-1 nuclear translocation and mitogen activated protein kinase phosphorylation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 91, "end": 95}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Brain-derived neurotrophic factor (BDNF) has been described to modulate airway hyper-responsiveness and inflammation and was involved in late allergic reaction in asthma and higher levels of circulating BDNF were present in allergic asthmatics.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 35, "end": 39}], "disease": [{"text": "allergic reaction", "start": 142, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The treatment of SCC cells with hypoxia increased the expression of PEDF as well as VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 84, "end": 88}], "disease": [{"text": "hypoxia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We document a case of an aggressive chronic B-cell leukemia whose cells had trisomy 12 and two unbalanced translocations involving 12p13, including a t (12; 22) (p13; q11) as shown by conventional cytogenetics and fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "p13", "start": 133, "end": 136}], "disease": [{"text": "trisomy 12", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) results from a simultaneous developmental abnor-caused by mutations of the tp63 gene.", "output": {"entities": {"gene": [{"text": "tp63", "start": 130, "end": 134}], "disease": [{"text": "EEC", "start": 50, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tp63", "start": 130, "end": 134}, "tail": {"text": "EEC", "start": 50, "end": 53}}]}}, "schema": []}
{"input": "The field of movement disorders with neuronal antibodies keeps expanding with the discovery for example of antibodies against leucine rich glioma inactivated protein 1 (LGI1) and contactin associated protein 2 (Caspr2) in chorea, or antibodies targeting ARHGAP26-or Na/K ATPase alpha 3 subunit (ATP1A3) in cerebellar ataxia.", "output": {"entities": {"gene": [{"text": "ATP1A3", "start": 295, "end": 301}], "disease": [{"text": "chorea", "start": 222, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Lack of alpha 1b-adrenergic receptor protects against epileptic seizures.", "output": {"entities": {"gene": [{"text": "alpha 1b-adrenergic receptor", "start": 8, "end": 36}], "disease": [{"text": "epileptic seizures", "start": 54, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha 1b-adrenergic receptor", "start": 8, "end": 36}, "tail": {"text": "epileptic seizures", "start": 54, "end": 72}}]}}, "schema": []}
{"input": "The present study suggests that overexpression of semaphorin 5A may contribute to gastric carcinogenesis, which reveals a novel expression and function of semaphorin 5A outside the nervous system and adds more weight to our knowledge of semaphorin 5A.", "output": {"entities": {"gene": [{"text": "semaphorin 5A", "start": 50, "end": 63}], "disease": [{"text": "weight", "start": 210, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "The Nramp1 alleles were not associated with increased risk for the development of cavities seen on chest radiographs, or with extrapulmonary tuberculosis.", "output": {"entities": {"gene": [{"text": "Nramp1", "start": 4, "end": 10}], "disease": [{"text": "cavities", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Immunoprecipitation of astrocytoma GWBs suggested that Dicer, hDcp, LSm4, XRN1, SYNCRIP, and FMRP form a multiprotein complex.", "output": {"entities": {"gene": [{"text": "SYNCRIP", "start": 80, "end": 87}], "disease": [{"text": "astrocytoma", "start": 23, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Here, we report two novel CASR mutations affecting the same amino acid (p. N802); one causes ADH and the other atypical FHH.", "output": {"entities": {"gene": [{"text": "CASR", "start": 26, "end": 30}], "disease": [{"text": "FHH", "start": 120, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CASR", "start": 26, "end": 30}, "tail": {"text": "FHH", "start": 120, "end": 123}}]}}, "schema": []}
{"input": "Similarities between human ataxia fibroblasts and murine SCID cells: high sensitivity to gamma rays and high frequency of methotrexate-induced DHFR gene amplification, but normal radiosensitivity to densely ionizing alpha particles.", "output": {"entities": {"gene": [{"text": "DHFR gene", "start": 143, "end": 152}], "disease": [{"text": "ataxia", "start": 27, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The roles of cell surface attachment molecules and coagulation Factor X in adenovirus 5-mediated gene transfer in pancreatic cancer cells.", "output": {"entities": {"gene": [{"text": "coagulation Factor X", "start": 51, "end": 71}], "disease": [{"text": "adenovirus", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "HOXA2 has been shown to be critical for outer and middle ear development through mouse models and has previously been associated with autosomal recessive bilateral microtia.", "output": {"entities": {"gene": [{"text": "HOXA2", "start": 0, "end": 5}], "disease": [{"text": "bilateral microtia", "start": 154, "end": 172}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXA2", "start": 0, "end": 5}, "tail": {"text": "bilateral microtia", "start": 154, "end": 172}}]}}, "schema": []}
{"input": "However, its expression was significantly lower in Dukes' D samples compared to earlier Dukes' stages suggesting that HIP was inversely correlated to metastasis.", "output": {"entities": {"gene": [{"text": "HIP", "start": 118, "end": 121}], "disease": [{"text": "metastasis", "start": 150, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "To address this, we first resequenced the NKX3. 1 gene in 159 probands of hereditary prostate cancer families recruited at Johns Hopkins Hospital; each family has at least three first-degree relatives affected with prostate cancer.", "output": {"entities": {"gene": [{"text": "NKX3. 1", "start": 42, "end": 49}], "disease": [{"text": "hereditary prostate cancer", "start": 74, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "A total of 250 individuals belonging to 19 different families, identified through established propositi were simultaneously screened for hereditary spherocytosis (SPH), using stringent criteria, and 27 well-known polymorphic genetic marker systems.", "output": {"entities": {"gene": [{"text": "SPH", "start": 163, "end": 166}], "disease": [{"text": "hereditary spherocytosis", "start": 137, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, histopathological examination revealed that the retained cardiac function observed in CD34 (+) HSC-treated mice was associated with decreased ventricular fibrosis.", "output": {"entities": {"gene": [{"text": "CD34", "start": 99, "end": 103}], "disease": [{"text": "fibrosis", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "PEDF proteins showed dose-dependent induced growth retardation and apoptotic cell death in nontransfected G361 cells, which were completely prevented by treatment with antibodies against the Fas ligand.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 191, "end": 201}], "disease": [{"text": "growth retardation", "start": 44, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability.", "output": {"entities": {"gene": [{"text": "tyrosine aminotransferase", "start": 171, "end": 196}], "disease": [{"text": "intellectual disability", "start": 358, "end": 381}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tyrosine aminotransferase", "start": 171, "end": 196}, "tail": {"text": "intellectual disability", "start": 358, "end": 381}}]}}, "schema": []}
{"input": "Interestingly, a second group (22 of 57 cases; 39%) was identified that showed high expression of CSF1 RNA or CSF1 protein but did not have the translocation.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 98, "end": 102}], "disease": [{"text": "translocation", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The aims of the study were to investigate whether VGLUT3 is involved in visceral pain, and whether transient intestinal infection or acute cold restraint stress (ACRS) affects VGLUT3 expression levels in rats.", "output": {"entities": {"gene": [{"text": "VGLUT3", "start": 50, "end": 56}], "disease": [{"text": "cold", "start": 139, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Cox' s proportional hazard analysis showed that the TT genotype is a significant risk factor for CVD (hazard ratio (HR) = 1. 82 (95% confidence interval (CI) 1. 14-2. 89); P = 0. 012) and stroke (HR = 1. 76 (95% CI: 1. 01-3. 07); P = 0. 048) incidences after adjustment for age, sex, hypertension, hyperlipidemia, diabetes, alcohol drinking and smoking at baseline.", "output": {"entities": {"gene": [{"text": "Cox' s", "start": 0, "end": 6}], "disease": [{"text": "hyperlipidemia", "start": 298, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "SULF1 also promotes drug-induced apoptosis of cancer cells in vitro and inhibits tumorigenesis and angiogenesis in vivo.", "output": {"entities": {"gene": [{"text": "SULF1", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The primary results showed that FLG mutations were not associated with the risk of cervical cancer (6. 3% of cases and 7. 7% of controls were carriers; OR adjusted 0. 81, 95% CI 0. 57-1. 14; OR adjusted + weighted 0. 96, 95% CI 0. 58-1. 57).", "output": {"entities": {"gene": [{"text": "FLG", "start": 32, "end": 35}], "disease": [{"text": "cervical cancer", "start": 83, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Cathepsin K, a cysteine protease gene that is highly expressed in osteoclasts, localized to the pycnodysostosis region.", "output": {"entities": {"gene": [{"text": "Cathepsin K", "start": 0, "end": 11}], "disease": [{"text": "pycnodysostosis", "start": 96, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Cathepsin K", "start": 0, "end": 11}, "tail": {"text": "pycnodysostosis", "start": 96, "end": 111}}]}}, "schema": []}
{"input": "We describe the case of a 49 year-old man with chronic myelomonocytic leukaemia and severe factor XI deficiency (< 1 u/dl), in whom the use of factor XI concentrate appeared to be associated with the development of venous thromboembolic disease.", "output": {"entities": {"gene": [{"text": "factor XI", "start": 91, "end": 100}], "disease": [{"text": "chronic myelomonocytic leukaemia", "start": 47, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "This analysis also revealed mutations in genes not previously implicated in DLBCL pathogenesis, including those regulating chromatin methylation (MLL2; 24% of samples) and immune recognition by T cells.", "output": {"entities": {"gene": [{"text": "MLL2", "start": 146, "end": 150}], "disease": [{"text": "DLBCL", "start": 76, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLL2", "start": 146, "end": 150}, "tail": {"text": "DLBCL", "start": 76, "end": 81}}]}}, "schema": []}
{"input": "The sequence and levels of expression of NAPlr were assayed for strains of GAS isolated from patients with APSGN, pharyngitis, scarlet fever or toxic shock-like syndrome.", "output": {"entities": {"gene": [{"text": "GAS", "start": 75, "end": 78}], "disease": [{"text": "toxic shock", "start": 144, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The data suggest that loss of all APC SAMP repeats is probably necessary for duodenal and gastric tumorigenesis in FAP, as it is in colonic tumors.", "output": {"entities": {"gene": [{"text": "SAMP", "start": 38, "end": 42}], "disease": [{"text": "tumorigenesis", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that FUS is the pathological protein in a significant subgroup of sporadic FTD and reinforce the concept that FTD and amyotrophic lateral sclerosis are closely related conditions.", "output": {"entities": {"gene": [{"text": "FUS", "start": 28, "end": 31}], "disease": [{"text": "sporadic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Mutations of COL2A1, COL9A2, COL10, and FGFR3 have been reported previously in the Strudwick type of SEMD, multiple epiphyseal dysplasia type 2 (EDM2), the Schmid type of metaphyseal dysplasia, and in achondroplasia, respectively, and the pseudoachondroplasia (PSACH) locus has been mapped to chromosome 19p12.", "output": {"entities": {"gene": [{"text": "SEMD", "start": 101, "end": 105}], "disease": [{"text": "multiple epiphyseal dysplasia", "start": 107, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We report here that brahma-related gene 1 (Brg1) and brahma (Brm), two catalytic components of the mammalian chromatin remodelling complex, were induced in cultured endothelial cells challenged with hypoxia in vitro as well as in pulmonary arteries in an animal model of HPH.", "output": {"entities": {"gene": [{"text": "Brg1", "start": 43, "end": 47}], "disease": [{"text": "hypoxia", "start": 199, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Using HIF-1alpha knockout colon cancer cells, we show that the inhibition of the hypoxia-induced VEGF by 1, 25 (OH) (2) D (3) is mediated through a HIF-dependent pathway.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 97, "end": 101}], "disease": [{"text": "hypoxia", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Nevertheless, the data of this study, gathered at the whole-organism level, further support a role for KLF11 in metabolic processes like insulin sensitivity, which regulation is critical in several forms of diabetes.", "output": {"entities": {"gene": [{"text": "KLF11", "start": 103, "end": 108}], "disease": [{"text": "insulin sensitivity", "start": 137, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "To further investigate whether multiple genetic changes are involved in the development of colorectal cancer, we performed an immunohistochemical analysis of p53 and ras p21 protein expression in 139 specimens of colorectal adenoma with varying degrees of dysplasia, 57 specimens of early cancer with an adenomatous component, and 12 specimens of superficial early cancer without any adenomatous component.", "output": {"entities": {"gene": [{"text": "p21", "start": 170, "end": 173}], "disease": [{"text": "colorectal adenoma", "start": 213, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Epithelial to mesenchymal transition (EMT) is a cellular phenotype switching phenomenon which occurs during normal development and is proposed to promote tumour cell invasive capabilities during tumour progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 38, "end": 41}], "disease": [{"text": "tumour progression", "start": 195, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "We tested for mutations in the keratin 8 and keratin 18 genes in purified genomic DNA isolated from 150 explanted livers and 89 peripheral-blood specimens from three groups of patients: 55 patients with cryptogenic liver disease; 98 patients with noncryptogenic liver disease, with causes that included alcohol use, autoimmunity, drug use, and viral infections; and 86 randomly selected inpatients and outpatients who provided blood to the hematology laboratory.", "output": {"entities": {"gene": [{"text": "keratin 18", "start": 45, "end": 55}], "disease": [{"text": "viral infections", "start": 344, "end": 360}]}, "relations": {}}, "schema": []}
{"input": "Recently, we found that glycolytic enzymes were abundant and some were increased in pseudopodia formed by U87 glioma (astrocytoma) cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 106, "end": 109}], "disease": [{"text": "glioma", "start": 110, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Pioglitazone reduced the total and striatal infarct size, neuronal degeneration in both parts of the ipsilateral SN, the loss of TH-IR neurones in the SNc and increased the number of PPARγ-positive TH-IR neurones.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 183, "end": 188}], "disease": [{"text": "infarct", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The dic (9; 20) (p11-13; q11) is a recurrent chromosomal abnormality in patients with acute lymphoblastic leukemia.", "output": {"entities": {"gene": [{"text": "p11", "start": 17, "end": 20}], "disease": [{"text": "chromosomal abnormality", "start": 45, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Among the presbycusis group, these solely occurred within the GJB2 and SLC26A4 genes.", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 71, "end": 78}], "disease": [{"text": "presbycusis", "start": 10, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder with impaired beta-oxidation of very long chain fatty acids (VLCFAs) and reduced function of peroxisomal very long chain fatty acyl-CoA synthetase (VLCS) that leads to severe and progressive neurological disability.", "output": {"entities": {"gene": [{"text": "VLCS", "start": 212, "end": 216}], "disease": [{"text": "peroxisomal disorder", "start": 43, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Western blot analysis demonstrated that 86% (18 of 21) of primary brain tumors showed evidence of JNK activation but only 38% (8 of 21) showed evidence of ERK activation.", "output": {"entities": {"gene": [{"text": "JNK", "start": 98, "end": 101}], "disease": [{"text": "primary brain tumors", "start": 58, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "G/A or A/A genotype of the LEPR Q223R SNP was associated with a significantly higher body weight, higher height velocity before treatment, but not after GH treatment.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 27, "end": 31}], "disease": [{"text": "body weight", "start": 85, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We also compared levels of HtrA proteins in follicular thyroid carcinoma (FTC) and papillary thyroid carcinoma (PTC) and found that these types of carcinoma differed in the expression of HtrA3-S and HtrA1.", "output": {"entities": {"gene": [{"text": "HtrA1", "start": 199, "end": 204}], "disease": [{"text": "carcinoma", "start": 63, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "A senescence gene likely maps within FRA6F, as suggested by detection of deletion and translocation breakpoints involving this fragile site in immortal human-mouse cell hybrids and in SV40-immortalized human fibroblasts containing a human chromosome 6 deleted at q21.", "output": {"entities": {"gene": [{"text": "FRA6F", "start": 37, "end": 42}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Among the direct targets identified for Fra-1/c-Jun involved in proliferation, adhesion, and cell-cell contact, we found that AP-1 repressed the expression of E-cadherin by transcriptional upregulation of ZEB2 to stimulate cell invasion.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 126, "end": 130}], "disease": [{"text": "adhesion", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Transcription profile analysis of these tumors revealed induction of transcripts known to be associated with myxoid liposarcoma and novel candidate genes, including PDGFA, whose expression was confirmed in human tumor samples.", "output": {"entities": {"gene": [{"text": "PDGFA", "start": 165, "end": 170}], "disease": [{"text": "myxoid liposarcoma", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Here we describe two novel KIT mutations associated with human piebaldism.", "output": {"entities": {"gene": [{"text": "KIT", "start": 27, "end": 30}], "disease": [{"text": "piebaldism", "start": 63, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIT", "start": 27, "end": 30}, "tail": {"text": "piebaldism", "start": 63, "end": 73}}]}}, "schema": []}
{"input": "The switch to miglitol for 3 months did not affect hemoglobin A (₁c), fasting glucose, triglycerides, total cholesterol, or C-reactive protein levels, or adverse events other than hypoglycemia symptoms.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 124, "end": 142}], "disease": [{"text": "hypoglycemia", "start": 180, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The mood-stabilizing drug valproate, but not lithium, rescues the manic-like behaviour of Shank3 transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile.", "output": {"entities": {"gene": [{"text": "Shank3", "start": 90, "end": 96}], "disease": [{"text": "manic", "start": 66, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Shank3", "start": 90, "end": 96}, "tail": {"text": "manic", "start": 66, "end": 71}}]}}, "schema": []}
{"input": "Immunohistochemical staining of RGC-32 and E-cadherin was performed on specimens from 42 patients with pancreatic cancer, 12 with chronic pancreatitis and 8 with normal pancreas.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 43, "end": 53}], "disease": [{"text": "chronic pancreatitis", "start": 130, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "These results also implicate genes encoding other TRK and neurotrophin family members as candidates for developmental defect (s) of the nervous system.", "output": {"entities": {"gene": [{"text": "TRK", "start": 50, "end": 53}], "disease": [{"text": "nervous system", "start": 136, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase.", "output": {"entities": {"gene": [{"text": "7-dehydrocholesterol reductase", "start": 99, "end": 129}], "disease": [{"text": "Smith-Lemli-Opitz syndrome", "start": 26, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "7-dehydrocholesterol reductase", "start": 99, "end": 129}, "tail": {"text": "Smith-Lemli-Opitz syndrome", "start": 26, "end": 52}}]}}, "schema": []}
{"input": "The t (8; 21) chromosomal translocation that generates the fusion oncoprotein RUNX1-ETO predominates in leukemia patients of the French-American-British (FAB) class M2 subtype.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 78, "end": 83}], "disease": [{"text": "chromosomal translocation", "start": 14, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Activation of the Nrf2-ARE pathway in hepatocytes protects against steatosis in nutritionally induced non-alcoholic steatohepatitis in mice.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 18, "end": 22}], "disease": [{"text": "non-alcoholic steatohepatitis", "start": 102, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nrf2", "start": 18, "end": 22}, "tail": {"text": "non-alcoholic steatohepatitis", "start": 102, "end": 131}}]}}, "schema": []}
{"input": "The purpose of our study was to analyse cases of primary cutaneous B-cell lymphoma (PCBCL) for the presence of the t (14; 18) translocation and to correlate the results with Bcl-2 expression and histological subtype.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 174, "end": 179}], "disease": [{"text": "translocation", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "According to the three methods, the GP2 line cells, representing a low-malignancy phenotype, had a higher uptake ability than the MB cells, possessing a phenotype of higher aggressiveness.", "output": {"entities": {"gene": [{"text": "GP2", "start": 36, "end": 39}], "disease": [{"text": "aggressiveness", "start": 173, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "To better understand the role of this gene family we performed a mutational screening on two candidate genes, MYO1C and MYO1F, analyzing hundreds of patients, affected by bilateral sensorineural hearing loss and coming from different European countries.", "output": {"entities": {"gene": [{"text": "MYO1C", "start": 110, "end": 115}], "disease": [{"text": "bilateral sensorineural hearing loss", "start": 171, "end": 207}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYO1C", "start": 110, "end": 115}, "tail": {"text": "bilateral sensorineural hearing loss", "start": 171, "end": 207}}]}}, "schema": []}
{"input": "The high expression level of the IL-1 beta gene and the IFN-gamma gene inside granulomas may be specific to delayed-type hypersensitivity immune reactions.", "output": {"entities": {"gene": [{"text": "IFN", "start": 56, "end": 59}], "disease": [{"text": "granulomas", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Intrahepatic cholangiocarcinoma and combined hepatocellular cholangiocarcinoma show varying degrees of biliary epithelial differentiation, which can be defined as liver cancer displaying biliary phenotype (LCB).", "output": {"entities": {"gene": [{"text": "LCB", "start": 206, "end": 209}], "disease": [{"text": "cholangiocarcinoma", "start": 13, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Endometrial cancer cells showed decreased expression of SEMA3B, SEMA3F, and plexin A3 compared with their normal counterparts.", "output": {"entities": {"gene": [{"text": "plexin A3", "start": 76, "end": 85}], "disease": [{"text": "Endometrial cancer", "start": 0, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "plexin A3", "start": 76, "end": 85}, "tail": {"text": "Endometrial cancer", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "Therefore, we studied the association between Group II mGluR genes (GRM2 and GRM3) and mood disorders and the efficacy of fluvoxamine treatment in Japanese MDD patients.", "output": {"entities": {"gene": [{"text": "GRM3", "start": 77, "end": 81}], "disease": [{"text": "mood disorders", "start": 87, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRM3", "start": 77, "end": 81}, "tail": {"text": "mood disorders", "start": 87, "end": 101}}]}}, "schema": []}
{"input": "To examine the relationship between EGFR and the invasive phenotype, we assessed integrin expression, adhesion, matrix metalloproteinase (MMP) activity, and migration in ovarian cancer cells in which EGFR expression was modified.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 36, "end": 40}], "disease": [{"text": "adhesion", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Evidence supporting the presence of the DNAJB1-PRKACA chimeric transcript in 100% of the FL-HCCs examined (15/15) suggests that this genetic alteration contributes to tumor pathogenesis.", "output": {"entities": {"gene": [{"text": "PRKACA", "start": 47, "end": 53}], "disease": [{"text": "FL-HCC", "start": 89, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRKACA", "start": 47, "end": 53}, "tail": {"text": "FL-HCC", "start": 89, "end": 95}}]}}, "schema": []}
{"input": "Estrogen regulates DNA methyltransferase 3B expression in Ishikawa endometrial adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "DNA methyltransferase 3B", "start": 19, "end": 43}], "disease": [{"text": "endometrial adenocarcinoma", "start": 67, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Both MSC and ACEI could reduce infarction remodelling by altering collagen metabolism.", "output": {"entities": {"gene": [{"text": "MSC", "start": 5, "end": 8}], "disease": [{"text": "infarction", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Sixteen FTO tagSNPs screened here, including several associated with BMI in Europeans, were not associated with birth weight (BWT), early weight gain in 1-2 year olds, BMI in adults (> or = 18 y), or weight-for-height (WFH) z-score across all ages.", "output": {"entities": {"gene": [{"text": "FTO", "start": 8, "end": 11}], "disease": [{"text": "height", "start": 211, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Abnormalities of adenosine deaminase, a critical enzyme of the purine salvage pathway, have been reported in association with immune dysfunction, acute leukemia, and hereditary hemolytic anemia.", "output": {"entities": {"gene": [{"text": "adenosine deaminase", "start": 17, "end": 36}], "disease": [{"text": "acute leukemia", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we aimed to evaluate the expression of CD11b and CD45 adhesion molecules in peripheral blood granulocytes, monocytes and lymphocytes from the patients with coronary artery ectasia as possible indicators of inflammation.", "output": {"entities": {"gene": [{"text": "CD45", "start": 71, "end": 75}], "disease": [{"text": "inflammation", "start": 228, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "AIM: The present study was designed to investigate the expression of Polo-like kinase 1 (PLK1) and survivin in non-Hodgkinos lymphoma (NHL).", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "lymphoma", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "This study confirmed the importance of dominant negative mutations of the COL2A1 gene in producing the spondyloepiphyseal dysplasia congenita phenotype.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 74, "end": 80}], "disease": [{"text": "spondyloepiphyseal dysplasia congenita", "start": 103, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 74, "end": 80}, "tail": {"text": "spondyloepiphyseal dysplasia congenita", "start": 103, "end": 141}}]}}, "schema": []}
{"input": "Treatment of B16 melanoma-bearing mice with CL1-R2 combined with cyclophosphamide chemotherapy caused regression of the tumor vasculature and normalization of the remaining vessels as shown by Doppler ultrasonography, intravital microscopy, and histology.", "output": {"entities": {"gene": [{"text": "CL1", "start": 44, "end": 47}], "disease": [{"text": "regression", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Less well studied is the role of the follicular lymphoma variant translocation 1 (FVT1) gene, which was identified through its involvement in an atypical follicular lymphoma translocation and which encodes an enzyme in the synthetic pathway of ceramide.", "output": {"entities": {"gene": [{"text": "FVT1", "start": 82, "end": 86}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "A nonrandom telomeric association, tas (15; 16) (p13; p13), was observed in one carcinoma.", "output": {"entities": {"gene": [{"text": "p13", "start": 49, "end": 52}], "disease": [{"text": "carcinoma", "start": 80, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "MCP-1 and HIV viral load (VL) were measured in serially obtained samples of plasma and cerebrospinal fluid (CSF) in subjects either interrupting (TI) or starting (TS) antiretroviral therapy.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 0, "end": 5}], "disease": [{"text": "viral load", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Functional analysis shows that the mutant DNC protein lacks the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes MCPHA.", "output": {"entities": {"gene": [{"text": "DNC", "start": 42, "end": 45}], "disease": [{"text": "MCPHA", "start": 185, "end": 190}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNC", "start": 42, "end": 45}, "tail": {"text": "MCPHA", "start": 185, "end": 190}}]}}, "schema": []}
{"input": "These data suggest that quercetin suppresses H1R gene expression by the suppression of PKCδ activation through the inhibition of its translocation to the Golgi.", "output": {"entities": {"gene": [{"text": "H1R", "start": 45, "end": 48}], "disease": [{"text": "translocation", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "However, the expression and function of SP-B in the sinonasal cavities has not been elucidated.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 40, "end": 44}], "disease": [{"text": "cavities", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region.", "output": {"entities": {"gene": [{"text": "USH2A", "start": 102, "end": 107}], "disease": [{"text": "Usher syndrome type IIa", "start": 42, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USH2A", "start": 102, "end": 107}, "tail": {"text": "Usher syndrome type IIa", "start": 42, "end": 65}}]}}, "schema": []}
{"input": "Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.", "output": {"entities": {"gene": [{"text": "TUBB", "start": 20, "end": 24}], "disease": [{"text": "Circumferential Skin Creases Kunze Type", "start": 41, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TUBB", "start": 20, "end": 24}, "tail": {"text": "Circumferential Skin Creases Kunze Type", "start": 41, "end": 80}}]}}, "schema": []}
{"input": "We report here on the identification of a p53 germ line mutation at codon 133 (ATG----ACG) in nine members of an extended Li-Fraumeni syndrome family.", "output": {"entities": {"gene": [{"text": "p53", "start": 42, "end": 45}], "disease": [{"text": "Li-Fraumeni syndrome", "start": 122, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p53", "start": 42, "end": 45}, "tail": {"text": "Li-Fraumeni syndrome", "start": 122, "end": 142}}]}}, "schema": []}
{"input": "These data suggest contributions of both IRAK1 and MECP2 to SLE susceptibility.", "output": {"entities": {"gene": [{"text": "IRAK1", "start": 41, "end": 46}], "disease": [{"text": "SLE", "start": 60, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IRAK1", "start": 41, "end": 46}, "tail": {"text": "SLE", "start": 60, "end": 63}}]}}, "schema": []}
{"input": "These results illustrate the molecular heterogeneity of the lesions causing Fabry disease and emphasize the fact that CpG dinucleotides constitute important hot spots for mutation in the alpha-Gal A gene.", "output": {"entities": {"gene": [{"text": "alpha-Gal A", "start": 187, "end": 198}], "disease": [{"text": "Fabry disease", "start": 76, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-Gal A", "start": 187, "end": 198}, "tail": {"text": "Fabry disease", "start": 76, "end": 89}}]}}, "schema": []}
{"input": "Since HOXA10 and HOXA11 are known to be necessary for successful pregnancy, these findings suggest a molecular mechanism by which bleeding or inflammation may affect pregnancy outcome.", "output": {"entities": {"gene": [{"text": "HOXA10", "start": 6, "end": 12}], "disease": [{"text": "inflammation", "start": 142, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Based on our microarray data, RXR & #946;, like FABP7, is an adverse prognostic factor for breast cancer.", "output": {"entities": {"gene": [{"text": "FABP7", "start": 48, "end": 53}], "disease": [{"text": "breast cancer", "start": 91, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FABP7", "start": 48, "end": 53}, "tail": {"text": "breast cancer", "start": 91, "end": 104}}]}}, "schema": []}
{"input": "Increased SP4 and SP1 transcription factor expression in the postmortem hippocampus of chronic schizophrenia.", "output": {"entities": {"gene": [{"text": "SP1 transcription factor", "start": 18, "end": 42}], "disease": [{"text": "chronic schizophrenia", "start": 87, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SP1 transcription factor", "start": 18, "end": 42}, "tail": {"text": "chronic schizophrenia", "start": 87, "end": 108}}]}}, "schema": []}
{"input": "This study supports the hypothesis that resveratrol may be able to protect the retina against ischemia by downregulation of MMP-9 and iNOS, and upregulation of HO-1.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 160, "end": 164}], "disease": [{"text": "retina", "start": 79, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HO-1", "start": 160, "end": 164}, "tail": {"text": "retina", "start": 79, "end": 85}}]}}, "schema": []}
{"input": "In conclusion, results from 2 independent studies suggest that the ET1/C198 polymorphism is associated with blood pressure levels in overweight people.", "output": {"entities": {"gene": [{"text": "ET1", "start": 67, "end": 70}], "disease": [{"text": "blood pressure", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We describe a family with a novel, inherited AXIN2 mutation (c. 1989G > A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers.", "output": {"entities": {"gene": [{"text": "AXIN2", "start": 45, "end": 50}], "disease": [{"text": "gastric polyps", "start": 194, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Analysis of a larger panel of tumors from patients receiving presurgical taxane-based treatment showed that DEFA and MAP2 expression as well as histologic features of inflammation were all statistically associated with response to therapy at the time of surgery.", "output": {"entities": {"gene": [{"text": "MAP2", "start": 117, "end": 121}], "disease": [{"text": "inflammation", "start": 167, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "A common polymorphism of the type 2 deiodinase gene (Thr92Ala DIO2) was found to be associated with insulin resistance in a mixed Caucasian population.", "output": {"entities": {"gene": [{"text": "DIO2", "start": 62, "end": 66}], "disease": [{"text": "insulin resistance", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The present meta-analysis suggested a positive association between FTO gene polymorphism and overweight/obesity risk among children and adolescents.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 67, "end": 75}], "disease": [{"text": "overweight", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "In response to the ensuing retinal ischemia, there was consistent preretinal neovascularization starting around P17, which persisted until P21, after which the new vessels regressed.", "output": {"entities": {"gene": [{"text": "P17", "start": 112, "end": 115}], "disease": [{"text": "neovascularization", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13. 2-13. 3 by genetic linkage.", "output": {"entities": {"gene": [{"text": "MLIV", "start": 4, "end": 8}], "disease": [{"text": "MCOLN1", "start": 20, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLIV", "start": 4, "end": 8}, "tail": {"text": "MCOLN1", "start": 20, "end": 26}}]}}, "schema": []}
{"input": "Moreover, patients with HCC had lowest serum nidogen-2 levels compared with patients with benign liver diseases and normal volunteers.", "output": {"entities": {"gene": [{"text": "HCC", "start": 24, "end": 27}], "disease": [{"text": "liver diseases", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we and others have demonstrated that the growth of mouse RAS-induced sarcomas allografts in mice is almost completely suppressed by either FK228 or a combination of two complimentary Tyr-kinase inhibitors, PP1 and AG 879, all of which block the RAS-induced activation of PAK1.", "output": {"entities": {"gene": [{"text": "PAK1", "start": 284, "end": 288}], "disease": [{"text": "sarcomas", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Glial fibrillary acid protein, carcinoembryonic antigen, CD24, and epithelial membrane antigen did not outperform other markers, and are less useful in the diagnosis of chordoma vs chondrosarcoma.", "output": {"entities": {"gene": [{"text": "carcinoembryonic antigen", "start": 31, "end": 55}], "disease": [{"text": "chondrosarcoma", "start": 181, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Eight candidate genes mapping to the breakpoint region--U2AF2, EPN1, NALP4, NALP11, NALP5, ZNF444, PTPRH, and KIAA1811--were screened for mutations in germ-line and polyp DNA from the case and from 15 PJS cases that did not harbor germ-line STK11 mutations.", "output": {"entities": {"gene": [{"text": "NALP4", "start": 69, "end": 74}], "disease": [{"text": "polyp", "start": 165, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Prostasin is down-regulated during inflammation and in invasive cancers, and plays a role in regulation of inflammatory gene expression and invasion.", "output": {"entities": {"gene": [{"text": "Prostasin", "start": 0, "end": 9}], "disease": [{"text": "inflammation", "start": 35, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "dic (4; 17) (p11; p11): a new recurrent chromosomal abnormality in chronic B-lymphoid disorders.", "output": {"entities": {"gene": [{"text": "p11", "start": 13, "end": 16}], "disease": [{"text": "chromosomal abnormality", "start": 40, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "These studies document the considerable variability in the Btk mutations causing XLA and they demonstrate an approach that will be useful for carrier detection as well as mutation identification.", "output": {"entities": {"gene": [{"text": "Btk", "start": 59, "end": 62}], "disease": [{"text": "XLA", "start": 81, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Btk", "start": 59, "end": 62}, "tail": {"text": "XLA", "start": 81, "end": 84}}]}}, "schema": []}
{"input": "Inherited deletions of ZFPM2 were identified in 2 patients with isolated diaphragmatic defects and a large de novo 8q deletion overlapping the same gene was found in a patient with non-isolated CDH.", "output": {"entities": {"gene": [{"text": "ZFPM2", "start": 23, "end": 28}], "disease": [{"text": "CDH", "start": 194, "end": 197}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZFPM2", "start": 23, "end": 28}, "tail": {"text": "CDH", "start": 194, "end": 197}}]}}, "schema": []}
{"input": "EGFR exon 19 in-frame deletion and polymorphisms of DNA repair genes in never-smoking female lung adenocarcinoma patients.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "In vitro, hypoxia induces the expression of VEGF, Flt-1, and type I collagen in activated HSCs and that of VEGF in hepatocytes.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 44, "end": 48}], "disease": [{"text": "hypoxia", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate whether dysfunction in the Nrg1 gene modulates the behavioural effects of Delta (9)-tetrahydrocannabinol (THC), the major psychotropic component of cannabis.", "output": {"entities": {"gene": [{"text": "Nrg1", "start": 68, "end": 72}], "disease": [{"text": "cannabis", "start": 189, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nrg1", "start": 68, "end": 72}, "tail": {"text": "cannabis", "start": 189, "end": 197}}]}}, "schema": []}
{"input": "Furthermore, immunofluorescence staining and cell fractionation showed that erlotinib treatment led to p27 (KIP1) translocation to the nucleus.", "output": {"entities": {"gene": [{"text": "KIP1", "start": 108, "end": 112}], "disease": [{"text": "translocation", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "A microRNA/TP53 feedback circuitry is associated with CLL pathogenesis and outcome.", "output": {"entities": {"gene": [{"text": "TP53", "start": 11, "end": 15}], "disease": [{"text": "CLL", "start": 54, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP53", "start": 11, "end": 15}, "tail": {"text": "CLL", "start": 54, "end": 57}}]}}, "schema": []}
{"input": "Here we identify recurrent somatic T372R mutations in YY1 by whole exome sequencing of 10 sporadic insulinomas.", "output": {"entities": {"gene": [{"text": "YY1", "start": 54, "end": 57}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "In a subsequent study, with denser marker coverage in 40 multiplex BP pedigrees, we reported supporting evidence with a two-point lod score of 2. 76 at the D21S1260 locus, about 6 cM proximal to PFKL.", "output": {"entities": {"gene": [{"text": "PFKL", "start": 195, "end": 199}], "disease": [{"text": "BP", "start": 67, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PFKL", "start": 195, "end": 199}, "tail": {"text": "BP", "start": 67, "end": 69}}]}}, "schema": []}
{"input": "Genetic variation in DRD2 is a modifier of the reward-motivated characteristics, smoking and obesity.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 21, "end": 25}], "disease": [{"text": "smoking", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, gene-targeted mice lacking SGK1 showed blunted volume retention, yet were not protected against renal fibrosis during experimental nephrotic syndrome.", "output": {"entities": {"gene": [{"text": "SGK1", "start": 42, "end": 46}], "disease": [{"text": "renal fibrosis", "start": 111, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "In view of the appearance of mild withdrawal signs during this method of treatment, the observed increases in ACTH and cortisol levels probably reflect the inability of AES to suppress withdrawal symptoms induced by naloxone completely.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 110, "end": 114}], "disease": [{"text": "withdrawal symptoms", "start": 185, "end": 204}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 110, "end": 114}, "tail": {"text": "withdrawal symptoms", "start": 185, "end": 204}}]}}, "schema": []}
{"input": "Serological analysis of simultaneously drawn CSF and serum samples allows reliable diagnostics of HSE, but not until after 3-10 days following the onset of neurological symptoms.", "output": {"entities": {"gene": [{"text": "HSE", "start": 98, "end": 101}], "disease": [{"text": "neurological symptoms", "start": 156, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that RORA has the potential to be under both negative and positive feedback regulation by male and female hormones, respectively, through one of its transcriptional targets, aromatase, and further suggest a mechanism for introducing sex bias in autism.", "output": {"entities": {"gene": [{"text": "aromatase", "start": 197, "end": 206}], "disease": [{"text": "autism", "start": 268, "end": 274}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "aromatase", "start": 197, "end": 206}, "tail": {"text": "autism", "start": 268, "end": 274}}]}}, "schema": []}
{"input": "In addition, LEPR gene also associated with relative weight; Arg109Arg homozygotes had higher relative weight and Ser343Ser (C/C) homozygotes had lower one.", "output": {"entities": {"gene": [{"text": "LEPR gene", "start": 13, "end": 22}], "disease": [{"text": "weight", "start": 53, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "It has been shown that some thrombotic patients carry an additional genetic risk factor such as protein C, protein S, antithrombin deficiency or the G20210A mutation on the prothrombin gene.", "output": {"entities": {"gene": [{"text": "prothrombin", "start": 173, "end": 184}], "disease": [{"text": "thrombotic", "start": 28, "end": 38}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prothrombin", "start": 173, "end": 184}, "tail": {"text": "thrombotic", "start": 28, "end": 38}}]}}, "schema": []}
{"input": "Our results suggest that inflammation leads to an increase in circulating transferrin receptor concentration that is independent of the degree of erythropoiesis, the hypoxic response and iron status.", "output": {"entities": {"gene": [{"text": "transferrin receptor", "start": 74, "end": 94}], "disease": [{"text": "inflammation", "start": 25, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transferrin receptor", "start": 74, "end": 94}, "tail": {"text": "inflammation", "start": 25, "end": 37}}]}}, "schema": []}
{"input": "Extracellular matrix metalloproteinase inducer stimulates tumor angiogenesis by elevating vascular endothelial cell growth factor and matrix metalloproteinases.", "output": {"entities": {"gene": [{"text": "endothelial cell growth factor", "start": 99, "end": 129}], "disease": [{"text": "tumor angiogenesis", "start": 58, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The mechanism by which loss of C/EBPβ promoted the TGF-β response towards EMT, invasion and metastasis, was traced to a previously uncharacterized role of C/EBPβ as a transcriptional activator of genes encoding the epithelial junction proteins E-cadherin and coxsackie virus and adenovirus receptor.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 51, "end": 56}], "disease": [{"text": "coxsackie virus", "start": 259, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "These data provide further evidence that modulators of the NPY Y2 receptor subtype are drug targets for the treatment of anxiety and mood disorders in human subjects.", "output": {"entities": {"gene": [{"text": "NPY Y2 receptor", "start": 59, "end": 74}], "disease": [{"text": "mood disorders", "start": 133, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY Y2 receptor", "start": 59, "end": 74}, "tail": {"text": "mood disorders", "start": 133, "end": 147}}]}}, "schema": []}
{"input": "To determine the role of the TSG101 gene in the carcinogenesis of cervical and uterine carcinoma, 19 cases of cervical carcinoma and five cases of endometrial carcinoma, as well as nearby non-cancerous tissue from the same patients, and 16 blood samples from healthy persons as normal control were analysed by Southern blot analysis of genomic DNA, reverse transcription of the TSG101 mRNA followed by PCR amplification and sequencing of the products.", "output": {"entities": {"gene": [{"text": "TSG101", "start": 29, "end": 35}], "disease": [{"text": "endometrial carcinoma", "start": 147, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Down-regulation of BANCR inhibited gastric cancer cell growth and promoted cell apoptosis, and it also contributed to a significant decrease of NF-κB1 (P50/105) expression and 3' UTR of NF-κB1 activity.", "output": {"entities": {"gene": [{"text": "BANCR", "start": 19, "end": 24}], "disease": [{"text": "gastric cancer", "start": 35, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Associations between polymorphisms in 5-HT2C and 5-HT2A receptor coding genes, HTR2C and HTR2A, with antipsychotic-induced weight gain have been reported.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 89, "end": 94}], "disease": [{"text": "weight gain", "start": 123, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Site-specific androgen receptor serine phosphorylation linked to epidermal growth factor-dependent growth of castration-recurrent prostate cancer.", "output": {"entities": {"gene": [{"text": "epidermal growth factor", "start": 65, "end": 88}], "disease": [{"text": "recurrent prostate cancer", "start": 120, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The Therapeutic Potential of Blocking Galectin-3 Expression in Acute Myocardial Infarction and Mitigating Inflammation of Infarct Region: A Clinical Outcome-Based Translational Study.", "output": {"entities": {"gene": [{"text": "Galectin-3", "start": 38, "end": 48}], "disease": [{"text": "Myocardial Infarction", "start": 69, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Galectin-3", "start": 38, "end": 48}, "tail": {"text": "Myocardial Infarction", "start": 69, "end": 90}}]}}, "schema": []}
{"input": "This study investigated whether there is a direct relationship between Ape1 and radioresistance in glioma cells, employing the human U87 and U251 cell lines.", "output": {"entities": {"gene": [{"text": "U87", "start": 133, "end": 136}], "disease": [{"text": "glioma", "start": 99, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In the present report we describe a novel 456G > A heterozygous mutation of splicing of the last base of the 3'-acceptor splice site of exon 4 within the GH1 in a 4. 2-year old, extremely short (-5. 32 height sDs) girl with congenital IGHD.", "output": {"entities": {"gene": [{"text": "GH1", "start": 154, "end": 157}], "disease": [{"text": "height", "start": 202, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Sixty-nine patients with AD on tacrine with or without transaminitis were genotyped for 17 IL6 polymorphisms.", "output": {"entities": {"gene": [{"text": "IL6", "start": 91, "end": 94}], "disease": [{"text": "transaminitis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Addition of functional AR in human HCC cells also resulted in the promotion of cell growth in the absence or presence of 5alpha-dihydrotestosterone.", "output": {"entities": {"gene": [{"text": "AR", "start": 23, "end": 25}], "disease": [{"text": "HCC", "start": 35, "end": 38}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AR", "start": 23, "end": 25}, "tail": {"text": "HCC", "start": 35, "end": 38}}]}}, "schema": []}
{"input": "The gingival pathologic changes resemble \" hamartoma \"; the findings has implications for identification of the underlying genetic basis of HGF.", "output": {"entities": {"gene": [{"text": "HGF", "start": 140, "end": 143}], "disease": [{"text": "hamartoma", "start": 43, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The multiple roles for Sox2 in stem cell maintenance and tumorigenesis.", "output": {"entities": {"gene": [{"text": "Sox2", "start": 23, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "IGH/BCL2 translocation was retained in the PBL, which also acquired c-myc gene rearrangement.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 4, "end": 8}], "disease": [{"text": "translocation", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Pentraxin family members, especially PTX3, may be used as promising biomarkers in the prognosis of pancreatic carcinoma patients.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 37, "end": 41}], "disease": [{"text": "pancreatic carcinoma", "start": 99, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "During differentiation of macrophages, ADM is produced in response to pro-inflammatory stimuli and hypoxia.", "output": {"entities": {"gene": [{"text": "ADM", "start": 39, "end": 42}], "disease": [{"text": "hypoxia", "start": 99, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.", "output": {"entities": {"gene": [{"text": "RET", "start": 40, "end": 43}], "disease": [{"text": "Hirschsprung disease", "start": 57, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 40, "end": 43}, "tail": {"text": "Hirschsprung disease", "start": 57, "end": 77}}]}}, "schema": []}
{"input": "With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation.", "output": {"entities": {"gene": [{"text": "GNAS1", "start": 32, "end": 37}], "disease": [{"text": "progressive osseous heteroplasia", "start": 62, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAS1", "start": 32, "end": 37}, "tail": {"text": "progressive osseous heteroplasia", "start": 62, "end": 94}}]}}, "schema": []}
{"input": "Our analysis in zebrafish and human macrophage models of mycobacterial infection reveals that the DNA damage-regulated autophagy modulator DRAM1 functions downstream of pathogen recognition by the Toll-like receptor (TLR)/interleukin-1 receptor (IL1R)-MYD88-NF-κB innate immune sensing pathway to activate selective autophagy.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 258, "end": 263}], "disease": [{"text": "mycobacterial infection", "start": 57, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We synthesized three Py-Im hairpin polyamides targeting the flanking sequences of hypoxia responsive element (HRE; a binding site of HIF) in the promoter region of the vascular endothelial growth factor (VEGF) gene.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 204, "end": 208}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "VEGF is one the pro-inflammatory adipokines synthesized by the \" adipose secretoma \" of obese subjects as a response to hypoxic conditions; but the main function of VEGF is angiogenesis, being recognized as the most important factor increasing blood capillaries in the adipose tissue by stimulating endothelial cell growth.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.])", "output": {"entities": {"gene": [{"text": "MAD", "start": 26, "end": 29}], "disease": [{"text": "malformations", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Here, we focus on the molecular interactions between these NOD proteins and other intracellular molecules to elucidate the mechanisms by which NOD1 and NOD2 contribute to the maintenance of mucosal homeostasis and the induction of mucosal inflammation.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 152, "end": 156}], "disease": [{"text": "mucosal inflammation", "start": 231, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "We found that ROCK-1 (-/-) mice did not develop the fibrosis and cardiac dysfunction characteristic for I/RC: compared with wild-type, ROCK-1 (-/-) hearts showed markedly lower numbers of I/RC-induced alpha-smooth muscle actin + fibroblasts and CD34 +/CD45 + fibroblast precursors.", "output": {"entities": {"gene": [{"text": "CD34", "start": 245, "end": 249}], "disease": [{"text": "fibrosis", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "A case control study of 125 GHD cases and 159 control subjects were characterized for bone age, body mass index (BMI), height, weight, leptin, IGF-1, GH and their genotype at the leptin promoter G-2548A, and LEPR variants, K109R and Q223R, at Chung Shan Medical University Hospital.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 208, "end": 212}], "disease": [{"text": "weight", "start": 127, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Comparative genomic hybridization (CGH) and FISH analyses were performed in order to analyze possible chromosomal aberrations induced by c-MYC.", "output": {"entities": {"gene": [{"text": "MYC", "start": 139, "end": 142}], "disease": [{"text": "chromosomal aberrations", "start": 102, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Cultured cells of explants from 23 human gliomas (seven astrocytomas, eleven anaplastic astrocytomas, three ependymal tumors and two medulloblastomas) were studied to examine cell morphology and expression of glial fibrillary acidic protein (GFAP), vimentin, fibronectin, and N-myc oncoprotein.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 242, "end": 246}], "disease": [{"text": "ependymal tumors", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Previous work suggested that expanded CD8 + T-cell clones in the synovial fluid (SF) of HLA-B27 + patients with reactive arthritis (ReA) preferentially use the T-cell receptor variable region (TCRBV) 1, similar CDR3 sequences, and joining region (BJ) 2S3.", "output": {"entities": {"gene": [{"text": "CD8", "start": 38, "end": 41}], "disease": [{"text": "reactive arthritis", "start": 112, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We conclude that IAPP-induced beta-cell apoptosis causes defects in insulin secretion and beta-cell mass that lead first to hepatic insulin resistance and IFG and then to extrahepatic insulin resistance, hyperglucagonemia, and diabetes.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 17, "end": 21}], "disease": [{"text": "insulin resistance", "start": 132, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In this study the association between the variant GSTM1 0/0 genotype and thyroid carcinoma was investigated.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 50, "end": 55}], "disease": [{"text": "carcinoma", "start": 81, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We found that Drp1 binding to p53 induced mitochondria-related necrosis.", "output": {"entities": {"gene": [{"text": "Drp1", "start": 14, "end": 18}], "disease": [{"text": "necrosis", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the mRNA expression levels of GLUT1, PGK1, and LDHA were increased in MDD patients in a depressive state compared to healthy control subjects.", "output": {"entities": {"gene": [{"text": "LDHA", "start": 60, "end": 64}], "disease": [{"text": "depressive state", "start": 101, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LDHA", "start": 60, "end": 64}, "tail": {"text": "depressive state", "start": 101, "end": 117}}]}}, "schema": []}
{"input": "Using real-time quantitative reverse transcriptase-polymerase chain reaction ([q] RT-PCR), the authors examined 36 samples (30 melanomas, 4 benign nevi, and 2 reactive lymph nodes) for the expression of 20 melanoma-related genes that function in cell growth and differentiation (epidermal growth factor receptor [EGFR], WNT5A, BRAF, FOS, JUN, MATP, and TMP1), cell proliferation (KI-67, TOP2A, BUB1, BIRC5, and STK6), melanoma progression (CD63, MAGEA3, and GALGT), and melanin synthesis (TYR, MLANA, SILV, PAX3, and MITF).", "output": {"entities": {"gene": [{"text": "TYR", "start": 489, "end": 492}], "disease": [{"text": "nevi", "start": 147, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the effects of metformin in the liver of PON1-deficient mice which, untreated, present a mild degree of liver steatosis.", "output": {"entities": {"gene": [{"text": "PON1", "start": 54, "end": 58}], "disease": [{"text": "liver steatosis", "start": 117, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PON1", "start": 54, "end": 58}, "tail": {"text": "liver steatosis", "start": 117, "end": 132}}]}}, "schema": []}
{"input": "We interpret these observations to implicate a reduction in the influence of a ubiquitous gene repressor, repressor element-1 silencing transcription factor (REST) in psychosis; REST is involved in the age-related maturation of the NMDA receptor from GluN2B-to GluN2A-containing NMDA receptors through epigenetic remodeling.", "output": {"entities": {"gene": [{"text": "REST", "start": 158, "end": 162}], "disease": [{"text": "psychosis", "start": 167, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Targeted inactivation of Dlx5 and Dlx6 in mice results in multiple developmental defects in craniofacial and limb structures, suggesting that these genes are crucial for aspects of both neural crest and nonneural crest development.", "output": {"entities": {"gene": [{"text": "Dlx5", "start": 25, "end": 29}], "disease": [{"text": "crest", "start": 193, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "X-linked isolated lissencephaly sequence (ILS) and subcortical band heterotopia are allelic human disorders associated with mutations of the DCX gene in both familial and sporadic forms.", "output": {"entities": {"gene": [{"text": "DCX gene", "start": 141, "end": 149}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Reprimo, a gene involved in the p53-induced G2 cell cycle arrest, has been recently identified as a novel target for aberrant methylation in pancreatic and other cancers.", "output": {"entities": {"gene": [{"text": "Reprimo", "start": 0, "end": 7}], "disease": [{"text": "cancers", "start": 162, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations of FGFR2 are found in endometrial uterine cancer and melanoma, and similar FGFR3 mutations in invasive bladder tumors, and FGFR4 mutations in rhabdomyosarcoma.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 22, "end": 27}], "disease": [{"text": "rhabdomyosarcoma", "start": 161, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Transglutaminase 2 inhibitor, KCC009, disrupts fibronectin assembly in the extracellular matrix and sensitizes orthotopic glioblastomas to chemotherapy.", "output": {"entities": {"gene": [{"text": "Transglutaminase 2", "start": 0, "end": 18}], "disease": [{"text": "glioblastomas", "start": 122, "end": 135}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Transglutaminase 2", "start": 0, "end": 18}, "tail": {"text": "glioblastomas", "start": 122, "end": 135}}]}}, "schema": []}
{"input": "We therefore propose that the DBC1-SIRT1 interaction may serve as a new target for therapies aimed at nonalcoholic liver steatosis.", "output": {"entities": {"gene": [{"text": "DBC1", "start": 30, "end": 34}], "disease": [{"text": "liver steatosis", "start": 115, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Western blotting analysis indicated that LDM-induced G1 and G2/M arrests in MCF-7 cells were associated with an increase of p53 and p21, and a decrease of phosphorylated retinoblastoma tumor suppressor protein, cyclin-dependent kinase (Cdk), Cdc2 and cyclin B1 protein levels.", "output": {"entities": {"gene": [{"text": "LDM", "start": 41, "end": 44}], "disease": [{"text": "retinoblastoma", "start": 170, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that homeostatic interactions between MeCP2 and miR-212 in dorsal striatum may be important in regulating vulnerability to cocaine addiction.", "output": {"entities": {"gene": [{"text": "miR-212", "start": 67, "end": 74}], "disease": [{"text": "cocaine addiction", "start": 142, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-212", "start": 67, "end": 74}, "tail": {"text": "cocaine addiction", "start": 142, "end": 159}}]}}, "schema": []}
{"input": "Detection of molecular alterations in LBC will open a new era for the detection in asymptomatic women of precursor lesions that could evolve into cancer and for endometrial cancer diagnosis and screening in selected high-risk women.", "output": {"entities": {"gene": [{"text": "LBC", "start": 38, "end": 41}], "disease": [{"text": "endometrial cancer", "start": 161, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Brahma-related gene 1 (Brg1) epigenetically regulates CAM activation during hypoxic pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "Brg1", "start": 23, "end": 27}], "disease": [{"text": "hypoxic", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Investigations revealed that treatment with the newly synthesized drug analogue SH-03 [{(7S, 7aR, 13aS)-9, 10-dimethoxy-3, 3-dimethyl-7, 7a, 13, 13atetrahydro-3H-chromeno [3, 4-b] pyrano [2, 3-h] chromen-7-ol}] could induce AGO2-mediated apoptosis in myeloid leukaemia cells via intrinsic apoptotic pathways independent of Dicer.", "output": {"entities": {"gene": [{"text": "AGO2", "start": 224, "end": 228}], "disease": [{"text": "myeloid leukaemia", "start": 251, "end": 268}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AGO2", "start": 224, "end": 228}, "tail": {"text": "myeloid leukaemia", "start": 251, "end": 268}}]}}, "schema": []}
{"input": "Overexpression of IL-6 not only plays an important role in prostate cancer progression but also contributes to bicalutamide resistance.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 18, "end": 22}], "disease": [{"text": "prostate cancer", "start": 59, "end": 74}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-6", "start": 18, "end": 22}, "tail": {"text": "prostate cancer", "start": 59, "end": 74}}]}}, "schema": []}
{"input": "Four family members with the c. 253T > C p. Y85H mutation in the BEST1 gene and BVMD in different stages also exhibited anterior segment abnormalities such as shallow anterior chambers (two cases), and reduced axial lengths in all cases.", "output": {"entities": {"gene": [{"text": "BEST1 gene", "start": 65, "end": 75}], "disease": [{"text": "abnormalities", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "As expected, hypoxia (1% pO2) further induced HIF-1α protein levels along with its target genes VEGF and LOX.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 96, "end": 100}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "The genetic analysis demonstrates that LGI1 is not a major gene for sporadic cases of partial epilepsy with auditory features at least in the Italian population.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 39, "end": 43}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 46, "end": 57}], "disease": [{"text": "dissociation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Thirty patients, including 26 patients (two families of five and two, 19 sporadic cases) with RCS, and 4 optic nerve coloboma only control cases were evaluated in the present study.", "output": {"entities": {"gene": [{"text": "RCS", "start": 94, "end": 97}], "disease": [{"text": "optic nerve coloboma", "start": 105, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "To clarify the participation of structural abnormalities of E-cadherin in cancer invasion in vivo, sequence abnormalities were examined in the cadherin domain (exons 5, 6, 7 and 8) including the region essential for E-cadherin specific binding, using the polymerase chain reaction-single-strand conformation polymorphism method and direct sequencing in invasive lobular carcinoma of the breast, in which cancer cells become detached from each other and invade the stroma in a particularly scattered pattern.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 60, "end": 70}], "disease": [{"text": "abnormalities", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the effects of PAK5 on proliferation, migration, invasion, and apoptosis in human U87 and U251 glioma cells and examined the underlying molecular mechanism.", "output": {"entities": {"gene": [{"text": "U87", "start": 113, "end": 116}], "disease": [{"text": "glioma", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We tested our hypothesis that lipid droplet (LD) protein perilipin 5 (PLIN5) in β-cells aids PP insulin secretion by regulating intracellular lipid metabolism.", "output": {"entities": {"gene": [{"text": "PLIN5", "start": 70, "end": 75}], "disease": [{"text": "aids", "start": 88, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The anti-Müllerian hormone (AMH) level acts as a useful marker of ovarian follicle reserve and, thus, may serve to predict when this ovarian reserve becomes too low to sustain ovarian function.", "output": {"entities": {"gene": [{"text": "AMH", "start": 28, "end": 31}], "disease": [{"text": "ovarian reserve", "start": 133, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "There is now emerging evidence that OPG participates in the pathogenesis of atherosclerosis and cardiovascular diseases by amplifying the adverse effects of inflammation and several traditional risk factors such as hyperlipidemia, endothelial dysfunction, diabetes mellitus, and hypertension.", "output": {"entities": {"gene": [{"text": "OPG", "start": 36, "end": 39}], "disease": [{"text": "hyperlipidemia", "start": 215, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Additionally, overexpression of AEG-1 protects primary and transformed human and rat cells from serum starvation-induced apoptosis through activation of PI3K/Akt signaling.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 32, "end": 37}], "disease": [{"text": "starvation", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Recently, it has been shown that an allele in the adiponutrin (PNPLA3) gene was strongly associated with increased liver fat content (LFC) and liver fibrosis independent of visceral adiposity and insulin resistance.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 63, "end": 69}], "disease": [{"text": "insulin resistance", "start": 196, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "We found a high incidence of B19 infection among patients diagnosed with different types of haematological malignancies.", "output": {"entities": {"gene": [{"text": "B19", "start": 29, "end": 32}], "disease": [{"text": "malignancies", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In most of these tumors, the t (2; 5) (p23; q35) translocation causes fusion of the ALK gene to the 5' region of the nucleophosmin (NPM) gene, but other different ALK partners have been identified, including nonmuscle tropomyosin (TPM3), TRK-fused gene (TFG), 5' aminoimidazole-4-carboxamide ribonucleotide formyltranferase/IMP cyclohydrolase (ATIC), clathrin heavy chain gene (CLTC), and moesin (MSN).", "output": {"entities": {"gene": [{"text": "TFG", "start": 254, "end": 257}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "However, in addition to the 12 patients, three DDS patients were also analysed using SSCP, and in all three cases heterozygous WT1 mutations were found which would be predicted to disrupt the DNA binding activity of WT1 protein.", "output": {"entities": {"gene": [{"text": "WT1", "start": 127, "end": 130}], "disease": [{"text": "DDS", "start": 47, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WT1", "start": 127, "end": 130}, "tail": {"text": "DDS", "start": 47, "end": 50}}]}}, "schema": []}
{"input": "No colorectal tumor was found to carry two CDC4 mutations predicted to abolish protein function; partial loss of CDC4 function may therefore cause tumorigenesis.", "output": {"entities": {"gene": [{"text": "CDC4", "start": 43, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 147, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the functional role of XRCC5 in AD was further validated in animals and humans.", "output": {"entities": {"gene": [{"text": "XRCC5", "start": 45, "end": 50}], "disease": [{"text": "AD", "start": 54, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XRCC5", "start": 45, "end": 50}, "tail": {"text": "AD", "start": 54, "end": 56}}]}}, "schema": []}
{"input": "One SCC had a missense mutation at codon 285 (GAG > AAG, Glu > Lys) and the other a nonsense mutation at codon 336, and the leukoplakia had a missense mutation at codon 273 (CGT > CAT, Arg > His).", "output": {"entities": {"gene": [{"text": "AAG", "start": 52, "end": 55}], "disease": [{"text": "leukoplakia", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy).", "output": {"entities": {"gene": [{"text": "RPGRIP1L", "start": 26, "end": 34}], "disease": [{"text": "renal disorder", "start": 202, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RPGRIP1L", "start": 26, "end": 34}, "tail": {"text": "renal disorder", "start": 202, "end": 216}}]}}, "schema": []}
{"input": "Since the risk of both hypertension and stroke also appears to be inversely correlated with adult height, we have instigated an exploratory study to assess whether inter-individual variation in the genes encoding human growth hormone (GH1) and the GH receptor (GHR) might be associated with an increased risk of hypertension and stroke.", "output": {"entities": {"gene": [{"text": "GH1", "start": 235, "end": 238}], "disease": [{"text": "height", "start": 98, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Hepatocerebral MDS, caused by mutations in DGUOK, MPV17, POLG, or C10orf2, commonly have an early-onset liver dysfunction and neurological involvement.", "output": {"entities": {"gene": [{"text": "C10orf2", "start": 66, "end": 73}], "disease": [{"text": "liver dysfunction", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Serum stimulation of the cells resulted in dissociation of MYPT1 from myosin and PP1C in parallel with an increase in the level of Thr853 phosphorylation.", "output": {"entities": {"gene": [{"text": "PP1C", "start": 81, "end": 85}], "disease": [{"text": "dissociation", "start": 43, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Insulin suppresses PDK4 expression in part through the dissociation of FoxO1 and PGC-1alpha from the PDK4 promoter.", "output": {"entities": {"gene": [{"text": "FoxO1", "start": 71, "end": 76}], "disease": [{"text": "dissociation", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Lissencephaly and subcortical band heterotopia are major malformations of cortical development due to abnormal neuronal migration and several genes have been identified including ARX, DCX, LIS1, RELN, TUBA1A, and VLDLR.", "output": {"entities": {"gene": [{"text": "RELN", "start": 195, "end": 199}], "disease": [{"text": "subcortical band heterotopia", "start": 18, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "In an inducible epidermal RAS transgenic model, treatment with SB enhanced proliferation and cutaneous inflammation in skin but decreased expression of keratin 1 and increased expression of simple epithelial keratin 18, markers of premalignant progression.", "output": {"entities": {"gene": [{"text": "keratin 18", "start": 208, "end": 218}], "disease": [{"text": "premalignant", "start": 231, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Mutations in EIF2AK4 are likely to cause autosomal-recessive PCH in familial and some nonfamilial cases.", "output": {"entities": {"gene": [{"text": "EIF2AK4", "start": 13, "end": 20}], "disease": [{"text": "PCH", "start": 61, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EIF2AK4", "start": 13, "end": 20}, "tail": {"text": "PCH", "start": 61, "end": 64}}]}}, "schema": []}
{"input": "(1) The results determined by dry-weight method indicated that water content of rats brain increased markedly after rats were exposed to a simulated altitude at 6 000 m, 8 000 m. (2) The results determined by microscopy indicated that during the rats exposed to hypoxia, nerve cells, vascular endothelial cells and astrocyte foot processes swelled lightly, transudate occurred in tissues at 4 000 m. The swelling of vascular endothelial cell (VEC) and astrocyte foot processes aggravated, interspace between vessels and tissues enlarged, and transudate in tissue increased at 6 000 m. The swelling of VEC and astrocyte foot processes went from bad to worse, interspace between vessels and tissues enlarged further, and transudate in tissue increased evidently at 8 000 m. (3) During hypoxic encephaledema, the expression of VEGF, AQP1 and AQP4 mRNA increased, AQP1 was abnormally expressed on the surface of VEC, and the expressive level of VEGF and AQP1 on VEC and AQP4 on astrocyte foot processes increased.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 824, "end": 828}], "disease": [{"text": "hypoxic", "start": 783, "end": 790}]}, "relations": {}}, "schema": []}
{"input": "Pituitary tumorigenesis involves remodeling of the extracellular matrix (ECM).", "output": {"entities": {"gene": [{"text": "ECM", "start": 73, "end": 76}], "disease": [{"text": "tumorigenesis", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Pretreatment with lithium markedly suppressed the clinical symptoms of EAE induced in mice by myelin oligodendrocyte glycoprotein peptide (MOG35-55) immunization and greatly reduced demyelination, microglia activation, and leukocyte infiltration in the spinal cord.", "output": {"entities": {"gene": [{"text": "myelin oligodendrocyte glycoprotein", "start": 94, "end": 129}], "disease": [{"text": "EAE", "start": 71, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "myelin oligodendrocyte glycoprotein", "start": 94, "end": 129}, "tail": {"text": "EAE", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "Protective effect of quercetin on acute lung injury in rats with sepsis and its influence on ICAM-1 and MIP-2 expression.", "output": {"entities": {"gene": [{"text": "MIP-2", "start": 104, "end": 109}], "disease": [{"text": "acute lung injury", "start": 34, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MIP-2", "start": 104, "end": 109}, "tail": {"text": "acute lung injury", "start": 34, "end": 51}}]}}, "schema": []}
{"input": "Stable expression of the pS2 cDNA promotes constitutive invasiveness in MDCKts. src-pS2 cells and human colonic HCT8/S11-pS2 cells established from a sporadic tumor.", "output": {"entities": {"gene": [{"text": "S11", "start": 117, "end": 120}], "disease": [{"text": "sporadic", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Although no discrepancy was found in the number of NMS between sPD patients with and without LRRK2 variants, nocturia was less common in LRRK2 variants carriers than in non-carriers (P = 0. 045).", "output": {"entities": {"gene": [{"text": "LRRK2", "start": 93, "end": 98}], "disease": [{"text": "nocturia", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Both proteins are concentrated in the vicinity of tumor blood vessels, with NPTXR also present on neuroblastic tumor cells.", "output": {"entities": {"gene": [{"text": "NPTXR", "start": 76, "end": 81}], "disease": [{"text": "tumor", "start": 50, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Secondary outcomes were acute asthma severity score, asthma diary, and cough diary scores on days 5, 7, 10, and 14.: On multivariate regression, presence of ARI was statistically but not clinically significantly associated with QOL score on presentation (B =-0. 36, P = 0. 025).", "output": {"entities": {"gene": [{"text": "ARI", "start": 157, "end": 160}], "disease": [{"text": "regression", "start": 133, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "CPN activities were 37. 5 (28. 5-41. 3) nmol/ml/min and 38. 5 (32. 8-45. 6) for FXII-HAE asymptomatic and symptomatic carriers, respectively, and 37. 9 (30. 5-43. 7) nmol/ml/min for noncarriers.", "output": {"entities": {"gene": [{"text": "CPN", "start": 0, "end": 3}], "disease": [{"text": "asymptomatic", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.", "output": {"entities": {"gene": [{"text": "HSPA9", "start": 40, "end": 45}], "disease": [{"text": "EVEN-PLUS syndrome", "start": 62, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSPA9", "start": 40, "end": 45}, "tail": {"text": "EVEN-PLUS syndrome", "start": 62, "end": 80}}]}}, "schema": []}
{"input": "Since astrocytomas are the most frequently occurring glioma, we have shown here that U87 cells-a well-established, human astrocytoma cell line-express both HGF and c-Met, thereby providing a suitable astrocytic tumor model for studying the potential role of HGF, functioning in an autocrine mode, in astrocytic tumorigenesis.", "output": {"entities": {"gene": [{"text": "U87", "start": 85, "end": 88}], "disease": [{"text": "glioma", "start": 53, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "One unusual clinical variant is epidermolysis bullosa pruriginosa (EBP), in which the combination of pruritus and skin fragility can lead to hypertrophic, lichenified nodules and plaques.", "output": {"entities": {"gene": [{"text": "EBP", "start": 67, "end": 70}], "disease": [{"text": "pruritus", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis.", "output": {"entities": {"gene": [{"text": "PC-1", "start": 31, "end": 35}], "disease": [{"text": "follicular keratosis", "start": 227, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "We propose that loss of AP-2 results in increased expression of the thrombin receptor, which subsequently contributes to the metastatic phenotype of melanoma by upregulating the expression of adhesion molecules, proteases, and angiogenic molecules.", "output": {"entities": {"gene": [{"text": "thrombin receptor", "start": 68, "end": 85}], "disease": [{"text": "adhesion", "start": 192, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Both null and missense mutations impaired the interaction of TCF4 with ASCL1 from the PHOX-RET pathway in transactivating an E box-containing reporter construct; therefore, hyperventilation and Hirschsprung disease in patients with Pitt-Hopkins syndrome might be explained by altered development of noradrenergic derivatives.", "output": {"entities": {"gene": [{"text": "TCF4", "start": 61, "end": 65}], "disease": [{"text": "Pitt-Hopkins syndrome", "start": 232, "end": 253}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCF4", "start": 61, "end": 65}, "tail": {"text": "Pitt-Hopkins syndrome", "start": 232, "end": 253}}]}}, "schema": []}
{"input": "Our finding supports a role of SGTA in NHL cell proliferation, adhesion and drug resistance, and it may pave the way for a novel therapeutic approach for CAM-DR in NHL.", "output": {"entities": {"gene": [{"text": "SGTA", "start": 31, "end": 35}], "disease": [{"text": "adhesion", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "This study strengthens the evidence for association between rare variants within RTN4R and SCZ, and may shed light on the molecular mechanisms underlying the neurodevelopmental disorder.", "output": {"entities": {"gene": [{"text": "RTN4R", "start": 81, "end": 86}], "disease": [{"text": "SCZ", "start": 91, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RTN4R", "start": 81, "end": 86}, "tail": {"text": "SCZ", "start": 91, "end": 94}}]}}, "schema": []}
{"input": "Despite tenfold elevated fasting insulin and marked insulin resistance in Arg1174Gln carriers, the levels of total adiponectin, leptin, IGFBP1 and IGFBP2 were similar to those observed in controls, while total IGF1, IGF2 and free IGF1 levels were increased.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 216, "end": 220}], "disease": [{"text": "insulin resistance", "start": 52, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "CEES induced ceramide accumulation may thus play an important role in the development of ARDS by modulating CPT enzyme.", "output": {"entities": {"gene": [{"text": "CPT", "start": 108, "end": 111}], "disease": [{"text": "ARDS", "start": 89, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CPT", "start": 108, "end": 111}, "tail": {"text": "ARDS", "start": 89, "end": 93}}]}}, "schema": []}
{"input": "We report (a) previously unknown high-frequency copy-neutral LOH (uniparental disomy) in FL on chromosomes 1p (approximately 50%) and 6p (approximately 30%); (b) that del6q is complex, as reported, with at least two regions of minimal common loss at 6q13-15 and 6q23-24, and that in addition, approximately 8% of FL specimens contain a homozygous deletion at 6q23. 3-24. 1 that spans the negative NFkappaB regulator A20 and the p53 apoptosis effector PERP; (c) that combined analysis of chromosome 17p for LOH, copy number, and p53 mutations shows that most p53 mutations in FL do not involve del17p.", "output": {"entities": {"gene": [{"text": "p53", "start": 428, "end": 431}], "disease": [{"text": "uniparental disomy", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Comparative genomic hybridization (CGH) was used in parallel with fluorescence in-situ hybridization (FISH) and conventional karyotyping to perform a genome-wide survey of DNA gains and losses in the endometriosis-derived permanent cell line, FbEM-1.", "output": {"entities": {"gene": [{"text": "FISH", "start": 102, "end": 106}], "disease": [{"text": "endometriosis", "start": 200, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Dipeptidyl peptidase-4 (DPP-4 or CD26) inhibitors, a new class of antidiabetic compounds, are effective in the treatment of hyperglycemia.", "output": {"entities": {"gene": [{"text": "DPP", "start": 24, "end": 27}], "disease": [{"text": "hyperglycemia", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We aimed to study whether variations in vasoregulatory endothelial nitric oxide synthase (eNOS 4a/b) and tissue-injury-associated inducible nitric oxide synthase (iNOS R5/4) genes and smoking might explain gender differences in long-term survival after stroke.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 55, "end": 88}], "disease": [{"text": "smoking", "start": 184, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We performed routine karyotyping, IGF2 gene sequencing and investigated DNA methylation of the IGF2 differentially methylated region (DMR) 0 and H19 DMR using pyrosequencing, in four women selected for very low birth weight (<-3 SDS for gestational age), precocious pubarche, short adult stature (<-2 SDS), and insulin resistance (defined as HOMA-IS < 80%); and compared their methylation results to those of 95 control subjects.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 34, "end": 38}], "disease": [{"text": "insulin resistance", "start": 311, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "Activation of the RET proto-oncogene, located on the long arms of chromosome 10, contributes to the development of thyroid cancers in two different ways.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 18, "end": 36}], "disease": [{"text": "arms", "start": 58, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge, this is the first case showing that somatic mutation of NLRC4 causes autoinflammatory symptoms compatible with NOMID.", "output": {"entities": {"gene": [{"text": "NLRC4", "start": 74, "end": 79}], "disease": [{"text": "NOMID", "start": 129, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NLRC4", "start": 74, "end": 79}, "tail": {"text": "NOMID", "start": 129, "end": 134}}]}}, "schema": []}
{"input": "The multivariable logistic regression analysis revealed that ALDH2 * 2 genotype and smoking were significantly associated with CSA (P < 0. 001 and P = 0. 024, respectively).", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 61, "end": 66}], "disease": [{"text": "smoking", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Keratinocytes of mice at higher risk for DILI exhibited an increased IL-1 & #946; basal expression.", "output": {"entities": {"gene": [{"text": "IL-1", "start": 69, "end": 73}], "disease": [{"text": "DILI", "start": 41, "end": 45}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-1", "start": 69, "end": 73}, "tail": {"text": "DILI", "start": 41, "end": 45}}]}}, "schema": []}
{"input": "Extra-neurological features such as telangiectasia, raised alpha-fetoprotein and reduced immunoglobulin levels were absent.", "output": {"entities": {"gene": [{"text": "alpha-fetoprotein", "start": 59, "end": 76}], "disease": [{"text": "telangiectasia", "start": 36, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "A young woman with normal gonadal development and mild mental retardation was found to have a small de novo interstitial deletion of most of band Xp21, karyotype designation 46, X, del (X) (pter----p21. 3:: p21. 1----qter).", "output": {"entities": {"gene": [{"text": "p21", "start": 147, "end": 150}], "disease": [{"text": "mild mental retardation", "start": 50, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Histone Deacetylase 5 Is Overexpressed in Scleroderma Endothelial Cells and Impairs Angiogenesis via Repression of Proangiogenic Factors.", "output": {"entities": {"gene": [{"text": "Histone Deacetylase 5", "start": 0, "end": 21}], "disease": [{"text": "Scleroderma", "start": 42, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Histone Deacetylase 5", "start": 0, "end": 21}, "tail": {"text": "Scleroderma", "start": 42, "end": 53}}]}}, "schema": []}
{"input": "The induction of YAP by hypoxia was not mediated by HIF-1α because manipulating the abundance of HIF-1α with CoCl2, exogenous expression, and RNA interference had no effect on the phosphorylation or total levels of YAP.", "output": {"entities": {"gene": [{"text": "YAP", "start": 17, "end": 20}], "disease": [{"text": "hypoxia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The inhibitory effect of dexamethasone on VEGF gene expression by tumour cells was markedly reduced by hypoxia which suggests that the upregulation of VEGF driven by hypoxia overcomes the effect of the dexamethasone.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 42, "end": 46}], "disease": [{"text": "hypoxia", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In vivo preclinical low-field MRI monitoring of tumor growth following a suicide-gene therapy in an orthotopic mice model of human glioblastoma.", "output": {"entities": {"gene": [{"text": "MRI", "start": 30, "end": 33}], "disease": [{"text": "glioblastoma", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Patients (n = 38) with ABCA4-associated retinal degeneration (RD) or with retinitis pigmentosa (RP) were studied with retina-tracking microperimetry along the foveo-papillary profile between the fovea and the optic nerve head, and point-by-point test-retest repeatability was estimated.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 23, "end": 28}], "disease": [{"text": "retinal degeneration", "start": 40, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "P63 expression in papillary and anaplastic carcinomas of the thyroid gland: lack of an oncogenetic role in tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "P63", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "These results support a role for catalase SNP in the efficiency of renutrition in malnourished elderly patients via the modulation of glucagon secretion, probably involving PAX6.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 173, "end": 177}], "disease": [{"text": "malnourished", "start": 82, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The production of VEGF is regulated by hypoxia inducible factor-1alpha (HIF-1alpha), especially under conditions of hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 18, "end": 22}], "disease": [{"text": "hypoxia", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The role of genetic markers--NAP1L1, MAGE-D2, and MTA1--in defining small-intestinal carcinoid neoplasia.", "output": {"entities": {"gene": [{"text": "MAGE-D2", "start": 37, "end": 44}], "disease": [{"text": "intestinal carcinoid", "start": 74, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer' s or dementia.", "output": {"entities": {"gene": [{"text": "IQCK", "start": 78, "end": 82}], "disease": [{"text": "dementia", "start": 240, "end": 248}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IQCK", "start": 78, "end": 82}, "tail": {"text": "dementia", "start": 240, "end": 248}}]}}, "schema": []}
{"input": "Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 24, "end": 45}], "disease": [{"text": "Fabry disease", "start": 0, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 24, "end": 45}, "tail": {"text": "Fabry disease", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "This study aimed to investigate the role of spinal CRTC1 in the maintenance of bone cancer pain using an RNA interference method.", "output": {"entities": {"gene": [{"text": "CRTC1", "start": 51, "end": 56}], "disease": [{"text": "cancer pain", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The antiproliferative and cytotoxic effect of nutlin-3, a small-molecule MDM2 antagonist, was examined in chemosensitive (UKF-NB-3) and matched chemoresistant neuroblastoma cells with wild-type p53 (UKF-NB-3 (r) DOX20) or with mutant p53 (UKF-NB-3 (r) VCR10).", "output": {"entities": {"gene": [{"text": "NB-3", "start": 126, "end": 130}], "disease": [{"text": "neuroblastoma", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "PTH-induced translocation of PKC-betaI,-delta, and-zeta to the cell membrane and PKC-zeta to the nucleus was also increased.", "output": {"entities": {"gene": [{"text": "PKC-zeta", "start": 81, "end": 89}], "disease": [{"text": "translocation", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "In MDS patients, the incidence of Bcl2 expression was high while in aplastic anemia patients, incidence of Bcl2 expression was low. Patients with Bcl2 and FLT3 protein positivity showed significantly reduced DFS suggesting parallel role of these proteins in imparting chemoresistance to the leukemic cells.", "output": {"entities": {"gene": [{"text": "FLT3", "start": 155, "end": 159}], "disease": [{"text": "aplastic anemia", "start": 68, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Multivariate analyses were done to identify associations between IKZF1 deletion and other variables on non-relapse mortality (NRM), cumulative incidence of relapse (CIR), leukemia-free survival (LFS) and survival.]", "output": {"entities": {"gene": [{"text": "NRM", "start": 126, "end": 129}], "disease": [{"text": "leukemia", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND: Graves' orbitopathy (GO) as well as Graves' disease (GD) hyperthyroidism originate from an autoimmune reaction against the common auto-antigen, thyroid-stimulating hormone receptor (TSHR).", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 176, "end": 192}], "disease": [{"text": "hyperthyroidism", "start": 69, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Although infusions of recombinant GBA ameliorate the systemic effects of GD, this therapy has no effect on the neurological manifestations.", "output": {"entities": {"gene": [{"text": "GBA", "start": 34, "end": 37}], "disease": [{"text": "neurological manifestations", "start": 111, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In a Cox regression model, the adjusted hazard ratio for the risk of disease progression after treatment with EGFR TKIs was 0. 59 (95% confidence interval [CI], 0. 40-0. 87; P =. 008) for patients with EGFR mutations, 4. 58 (95% CI, 2. 07-10. 15; P <. 001) for patients with ALK rearrangements, and 4. 23 (95% CI, 1. 65-10. 8; P =. 003) for patients with KRAS mutations.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 110, "end": 114}], "disease": [{"text": "regression", "start": 9, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "We previously established a highly metastatic subline, LNM35, from the NCI-H460 lung cancer cell line, and demonstrated upregulation of a novel gene, CLCP1 (CUB, LCCL-homology, coagulation factor V/VIII homology domains protein), in LNM35 and lung cancer specimens.", "output": {"entities": {"gene": [{"text": "coagulation factor V", "start": 177, "end": 197}], "disease": [{"text": "lung cancer", "start": 80, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We aim to clarify the role of two main LMW-PTP isoforms in breast cancer tumorigenesis.", "output": {"entities": {"gene": [{"text": "LMW-PTP", "start": 39, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In reviewing the epidemiology of recurrent abortion (RAB), we believe it is necessary to consider the epidemiology of spontaneous abortion (SAB) as well, since it is clear that even a single pregnancy loss increases the risk for a subsequent abortion.", "output": {"entities": {"gene": [{"text": "RAB", "start": 53, "end": 56}], "disease": [{"text": "recurrent abortion", "start": 33, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "ERAP1 in ankylosing spondylitis: genetics, biology and pathogenetic role.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 0, "end": 5}], "disease": [{"text": "spondylitis", "start": 20, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "We report here the identification of 14 genes that are rapidly induced by atRA (retinoic acid induced in neuroblastoma or RAINB), eight of which were previously not known to be atRA responsive (BTBD11, calmin, cyclin M2, ephrin B2, HOXD10, NEDD9, RAINB6 and tenascin R).", "output": {"entities": {"gene": [{"text": "BTBD11", "start": 194, "end": 200}], "disease": [{"text": "neuroblastoma", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of FGF receptor 3 (FGFR3) is implicated in the development of t (4; 14)-positive multiple myeloma.", "output": {"entities": {"gene": [{"text": "FGF receptor", "start": 18, "end": 30}], "disease": [{"text": "multiple myeloma", "start": 96, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Pranlukast, tacrolimus and dexamethasone significantly inhibited production of TNF-alpha and nuclear-translocation of NF-kappa B in PBM of atopic asthmatics (P < 0. 01).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 79, "end": 88}], "disease": [{"text": "atopic", "start": 139, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Among several candidates with statistically significant deregulation BCL2/adenovirus E1B 19 kDa interacting protein 3 (BNIP3) and protein kinase C beta1 were shown to be the most aberrantly expressed genes.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 119, "end": 124}], "disease": [{"text": "adenovirus", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Augmented EGFR signaling contributes to abnormalities of vascular tone and renal sodium handling as well as vascular remodeling and myocardial hypertrophy through various intracellular mechanisms, in particular extracellular signal-regulated kinases (ERK) and phosphoinositide 3-kinase (PI3K).", "output": {"entities": {"gene": [{"text": "ERK", "start": 251, "end": 254}], "disease": [{"text": "hypertrophy", "start": 143, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Bay-117082 abolished hypoxia-stimulated IL-8 and VEGF synthesis, whereas Cyr61 restored the stimulative effect of hypoxia readily.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxia", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "HIV positive sepsis patients in both ICU cohorts showed overexpression of genes involved in granzyme signaling (GZMA, GZMB), cytotoxic T-cell signaling (CD8A, CD8B) and T-cell inhibitory signaling (LAG3), compared to HIV negative patients.", "output": {"entities": {"gene": [{"text": "GZMA", "start": 112, "end": 116}], "disease": [{"text": "sepsis", "start": 13, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The results showed that TFPI-2 is silenced in human malignant melanomas by methylation of its promoter CGI and suggested that its silencing is involved in melanoma metastasis.", "output": {"entities": {"gene": [{"text": "TFPI-2", "start": 24, "end": 30}], "disease": [{"text": "metastasis", "start": 164, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TFPI-2", "start": 24, "end": 30}, "tail": {"text": "metastasis", "start": 164, "end": 174}}]}}, "schema": []}
{"input": "In summary, resveratrol can inhibit sFlt-1 release and up-regulate heme oxygenase-1; thus, may offer therapeutic potential in preeclampsia.", "output": {"entities": {"gene": [{"text": "heme oxygenase-1", "start": 67, "end": 83}], "disease": [{"text": "preeclampsia", "start": 126, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "heme oxygenase-1", "start": 67, "end": 83}, "tail": {"text": "preeclampsia", "start": 126, "end": 138}}]}}, "schema": []}
{"input": "In OVCA 433 and HEY ovarian carcinoma cell lines, ET-1 treatment increases VEGF mRNA expression and induces VEGF protein levels in a time-and dose-dependent fashion, and do so to a greater extent under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 75, "end": 79}], "disease": [{"text": "hypoxic", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of the HGF gene resulted in a significant decrease in the infarcted brain area as assessed by triphenyltetrazolium chloride staining, whereas rats transfected with control vector exhibited a wide area of brain death after 24 hours of ischemia.", "output": {"entities": {"gene": [{"text": "HGF gene", "start": 22, "end": 30}], "disease": [{"text": "ischemia", "start": 249, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "Central pulverulent cataract in this consanguineous population does not significantly impact visual acuity during early childhood, can be associated with significant ametropias (with amblyopia and/or strabismus) and is specific for a homozygous CRYBB1 founder mutation.", "output": {"entities": {"gene": [{"text": "CRYBB1", "start": 245, "end": 251}], "disease": [{"text": "Central pulverulent cataract", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRYBB1", "start": 245, "end": 251}, "tail": {"text": "Central pulverulent cataract", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "Here, we investigate a novel role of NLK and metformin in human non-small cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "NLK", "start": 37, "end": 40}], "disease": [{"text": "non-small cell lung cancer", "start": 64, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Transfection of HIF-2 siRNA also downregulated tumoral expression of HIF-2α, VEGF, TGF-α, and cyclin D1 in vivo, and acted synergistically with doxorubicin to suppress the growth of HepG2 tumors established in immunodeficient mice by inhibiting cell proliferation, tumor angiogenesis and microvessel perfusion.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 94, "end": 103}], "disease": [{"text": "tumor angiogenesis", "start": 265, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.", "output": {"entities": {"gene": [{"text": "tau", "start": 89, "end": 92}], "disease": [{"text": "frontotemporal dementia", "start": 18, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tau", "start": 89, "end": 92}, "tail": {"text": "frontotemporal dementia", "start": 18, "end": 41}}]}}, "schema": []}
{"input": "Patients were stratified by body mass index (BMI) and correlated with a history of previous malignancy and defects in MMR.", "output": {"entities": {"gene": [{"text": "MMR", "start": 118, "end": 121}], "disease": [{"text": "body mass index", "start": 28, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "To determine whether 11q23/MLL rearrangements were present in the leukemia cells of patients with a normal karyotype, we performed FISH and molecular studies of eight of these patients who had adequate material.", "output": {"entities": {"gene": [{"text": "FISH", "start": 131, "end": 135}], "disease": [{"text": "leukemia", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Individuals with localized pulmonary MAC infections showed increased activation of monocytes and enhanced monocyte and T-cell tumor necrosis factor alpha (TNF-alpha) production in response to lipopolysaccharide and MAC antigens but defects in T-cell IFN-gamma secretion.", "output": {"entities": {"gene": [{"text": "MAC", "start": 37, "end": 40}], "disease": [{"text": "infections", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "MAP/microtubule affinity-regulating kinase 4 (MARK4) is a serine-threonine kinase expressed in two spliced isoforms, MARK4L and MARK4S, of which MARK4L is a candidate for a role in neoplastic transformation.", "output": {"entities": {"gene": [{"text": "MARK4", "start": 46, "end": 51}], "disease": [{"text": "neoplastic transformation", "start": 181, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Immunoreactivity with antibodies against DYRK1A not only in NFTs but also in granules in granulovacuolar degeneration and in corpora amylacea suggests that DYRK1A is involved in all three forms of degeneration and that overexpression of this kinase may contribute to the early onset of these pathologies in DS.", "output": {"entities": {"gene": [{"text": "DYRK1A", "start": 41, "end": 47}], "disease": [{"text": "granulovacuolar degeneration", "start": 89, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "While frequent occurrence of thyroid-stimulating hormone receptor gene mutations in toxic multinodular goiters has been reported in areas such as part of Europe with a relatively high prevalence of iodine deficiency, toxic multinodular goiters in areas with an abundance of dietary iodine such as Japan seem unlikely to involve mutations of this gene.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 49, "end": 65}], "disease": [{"text": "goiters", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The PI3-kinase pathway regulated both the normoxic expression and hypoxic induction of VEGF in 2 cell lines, whereas MEK1/2 regulated only the normoxic expression in the same 2 lines.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 87, "end": 91}], "disease": [{"text": "hypoxic", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Study aims were: evaluation of (1) timing of MRI after intravenous injection of cannabinoid-2 receptor (CB2-R) (expressed by human and mouse plaque macrophages) targeted micelles; (2) inter-scan variability of inversion-recovery fast spin echo and fast spin echo; (3) relation between NER (plaque) and gadolinium content for inversion-recovery fast spin echo and fast spin echo.", "output": {"entities": {"gene": [{"text": "NER", "start": 285, "end": 288}], "disease": [{"text": "plaque", "start": 141, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we suggest that PXN expression may be useful in predicting primary TKI resistance, and combining TKI with ERK inhibitors may clinically benefit EGFR-mutant non-small cell lung cancer patients whose tumors exhibit high PXN expression.", "output": {"entities": {"gene": [{"text": "PXN", "start": 27, "end": 30}], "disease": [{"text": "non-small cell lung cancer", "start": 167, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical and immunofluorescent study demonstrated that VEGF is mainly expressed in motor neurons before and after hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 66, "end": 70}], "disease": [{"text": "hypoxia", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Nineteen patients with giant cell tumors were examined with PET and 18F-FDG, and tracer kinetics were assessed quantitatively.", "output": {"entities": {"gene": [{"text": "FDG", "start": 72, "end": 75}], "disease": [{"text": "giant cell tumors", "start": 23, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "DP polymorphism in HLA-A1,-B8,-DR3 extended haplotypes associated with membranoproliferative glomerulonephritis and systemic lupus erythematosus.", "output": {"entities": {"gene": [{"text": "DR3", "start": 31, "end": 34}], "disease": [{"text": "membranoproliferative glomerulonephritis", "start": 71, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The data on PGRP-SA with respect to the response to Gram-positive infections, together with the present report, indicate that the PGRP family has a principal role in sensing microbial infections in Drosophila.", "output": {"entities": {"gene": [{"text": "PGRP", "start": 12, "end": 16}], "disease": [{"text": "infections", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "To describe the prevalence of transfusion-transmitted virus (TTV) infection in association with hepatitis A-E viral infections in different forms of liver diseases in North India.", "output": {"entities": {"gene": [{"text": "TTV", "start": 61, "end": 64}], "disease": [{"text": "viral infections", "start": 110, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "When our biomarker data were assessed by Cox regression, furthermore, the dominant effects of p53 and PARP1 expression were highlighted.", "output": {"entities": {"gene": [{"text": "PARP1", "start": 102, "end": 107}], "disease": [{"text": "regression", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Comparative diagnosis of malaria infections by microscopy, nested PCR, and LAMP in northern Thailand.", "output": {"entities": {"gene": [{"text": "LAMP", "start": 75, "end": 79}], "disease": [{"text": "infections", "start": 33, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest a novel regulatory mechanism for CD274 overexpression in gastric cancer mediated by miR-570 and a somatic mutation in CD274 3'-UTR, and provide a new insight to gastric carcinogenesis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 150, "end": 153}], "disease": [{"text": "carcinogenesis", "start": 192, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found that PAK5-mediated E47 phosphorylation promoted EMT in advanced colon cancer.", "output": {"entities": {"gene": [{"text": "E47", "start": 43, "end": 46}], "disease": [{"text": "colon cancer", "start": 88, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In cerebrovascular diseases, heart diseases and acute digestive diseases, significant differences of EC-SOD were not observed.", "output": {"entities": {"gene": [{"text": "EC-SOD", "start": 101, "end": 107}], "disease": [{"text": "cerebrovascular diseases", "start": 3, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Failure to respond in patients with very high CD8 levels, despite PA-APA fall indicates a role for T cell-mediated platelet/megakaryocyte destruction.", "output": {"entities": {"gene": [{"text": "CD8", "start": 46, "end": 49}], "disease": [{"text": "fall", "start": 73, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "A synergistic effect of angiotensin I-converting enzyme gene DD genotype and angiotensinogen gene TT genotype on left ventricular mass in endurance athletes appears to occur.", "output": {"entities": {"gene": [{"text": "angiotensin I-converting enzyme", "start": 24, "end": 55}], "disease": [{"text": "left ventricular mass", "start": 113, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "RANBP2 and CLTC are involved in ALK rearrangements in inflammatory myofibroblastic tumors.", "output": {"entities": {"gene": [{"text": "CLTC", "start": 11, "end": 15}], "disease": [{"text": "myofibroblastic tumors", "start": 67, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLTC", "start": 11, "end": 15}, "tail": {"text": "myofibroblastic tumors", "start": 67, "end": 89}}]}}, "schema": []}
{"input": "An increase in symptoms of depressed mood and a fall in heart rate occurred only in those who displayed increased CRP with nicotine abstinence (p < 0. 05), while systolic blood pressure fell only in those whose CRP levels decreased with abstinence (p < 0. 05).", "output": {"entities": {"gene": [{"text": "CRP", "start": 114, "end": 117}], "disease": [{"text": "heart rate", "start": 56, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "A carvedilol-responsive microRNA, miR-125b-5p protects the heart from acute myocardial infarction by repressing pro-apoptotic bak1 and klf13 in cardiomyocytes.", "output": {"entities": {"gene": [{"text": "bak1", "start": 126, "end": 130}], "disease": [{"text": "myocardial infarction", "start": 76, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bak1", "start": 126, "end": 130}, "tail": {"text": "myocardial infarction", "start": 76, "end": 97}}]}}, "schema": []}
{"input": "These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into a transcriptional activator.", "output": {"entities": {"gene": [{"text": "STAT6", "start": 29, "end": 34}], "disease": [{"text": "SFT", "start": 70, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STAT6", "start": 29, "end": 34}, "tail": {"text": "SFT", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "Central venous blood of patients with HCC (n = 24) and patients with benign liver diseases (n = 13) equally demonstrated AFP-expressing cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 38, "end": 41}], "disease": [{"text": "liver diseases", "start": 76, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "PCa cell line models were used to investigate the role of LMWPTP in cell proliferation, migration, adhesion, and anoikis resistance.", "output": {"entities": {"gene": [{"text": "LMWPTP", "start": 58, "end": 64}], "disease": [{"text": "adhesion", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The presence of two polymorphisms thought to decrease circulating TNF-alpha was associated with higher mean Z-scores for height and a trend toward less growth retardation.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 66, "end": 75}], "disease": [{"text": "height", "start": 121, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Bladder cancer cell lines were exposed to normoxic or hypoxic conditions and examined for the expression of FGFR3 by quantitative PCR (qPCR) and western blotting, and miR-100 by qPCR.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 108, "end": 113}], "disease": [{"text": "hypoxic", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "COX-2 and SCD, markers of inflammation and adipogenesis, are related to disease activity in Graves' ophthalmopathy.", "output": {"entities": {"gene": [{"text": "SCD", "start": 10, "end": 13}], "disease": [{"text": "Graves' ophthalmopathy", "start": 92, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SCD", "start": 10, "end": 13}, "tail": {"text": "Graves' ophthalmopathy", "start": 92, "end": 114}}]}}, "schema": []}
{"input": "Remarkably, the TAM-induced increase in the proliferation of the ER + ZR-75-1 and BT474 cells parallels a sustained upregulation of GLI1 expression and its translocation to the nucleus.", "output": {"entities": {"gene": [{"text": "GLI1", "start": 132, "end": 136}], "disease": [{"text": "translocation", "start": 156, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Bcl-2 overexpression enhanced the synthesis of the hypoxia-stimulated VEGF protein and mRNA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 70, "end": 74}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Additionally, loss of MMR function has been demonstrated to lead to the phenomenon of microsatellite instability (MIN) in tumors from these patients.", "output": {"entities": {"gene": [{"text": "MMR", "start": 22, "end": 25}], "disease": [{"text": "microsatellite instability", "start": 86, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "These data, together with a characteristic gene expression profile, suggest that inactivation of TRIM28 provides the molecular basis for defining a previously described subtype of Wilms tumour, that has early age of onset and excellent prognosis.", "output": {"entities": {"gene": [{"text": "TRIM28", "start": 97, "end": 103}], "disease": [{"text": "Wilms tumour", "start": 180, "end": 192}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIM28", "start": 97, "end": 103}, "tail": {"text": "Wilms tumour", "start": 180, "end": 192}}]}}, "schema": []}
{"input": "In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H).", "output": {"entities": {"gene": [{"text": "MEFV", "start": 27, "end": 31}], "disease": [{"text": "FMF", "start": 72, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEFV", "start": 27, "end": 31}, "tail": {"text": "FMF", "start": 72, "end": 75}}]}}, "schema": []}
{"input": "The granulomatous lesion around the parasite eggs in the liver was less in the wild-type than in the CETP-transgenic mice.", "output": {"entities": {"gene": [{"text": "CETP", "start": 101, "end": 105}], "disease": [{"text": "granulomatous lesion", "start": 4, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "When stratified by ALDH2 Ex1 + 82A > G polymorphism, alcohol-related increases in stomach cancer risk were restricted to individuals with the AG/GG genotypes, with a more than 2-fold risk among daily drinkers (OR = 2. 63, 95% CI = 1. 00-6. 88) and 3-fold risk (OR = 3. 66, 95% CI = 1. 19-11. 24) among those with 40 or more drink-years.", "output": {"entities": {"gene": [{"text": "Ex1", "start": 25, "end": 28}], "disease": [{"text": "stomach cancer", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.", "output": {"entities": {"gene": [{"text": "PIGM", "start": 33, "end": 37}], "disease": [{"text": "glycosylphosphatidylinositol deficiency", "start": 55, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIGM", "start": 33, "end": 37}, "tail": {"text": "glycosylphosphatidylinositol deficiency", "start": 55, "end": 94}}]}}, "schema": []}
{"input": "A high transcription level was also found in grade IV prostatic adenocarcinoma PC3.", "output": {"entities": {"gene": [{"text": "PC3", "start": 79, "end": 82}], "disease": [{"text": "prostatic adenocarcinoma", "start": 54, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a possible linkage between abnormal plasma chemistries, especially those related to the pro-opiomelanocortin system, and autistic symptoms.", "output": {"entities": {"gene": [{"text": "pro-opiomelanocortin", "start": 110, "end": 130}], "disease": [{"text": "autistic", "start": 143, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pro-opiomelanocortin", "start": 110, "end": 130}, "tail": {"text": "autistic", "start": 143, "end": 151}}]}}, "schema": []}
{"input": "The objective of this study was to investigate the association between 61 SNPs in eight CHRN genes (CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2, CHRNB3, CHRNB4) and dizziness at first inhalation.", "output": {"entities": {"gene": [{"text": "CHRNA6", "start": 124, "end": 130}], "disease": [{"text": "inhalation", "start": 187, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "The serum IL6 {median (IQRs), 9. 42 (10. 92) vs. 5. 2 (5. 34) pg/ml; P = 0. 001}, IL8 {12. 37 (10. 92) vs. 5. 63 (5. 52) pg/ml; P & lt; 0. 001}, IL10 {8. 33 (8. 3) vs. 2. 05 (1. 37) pg/ml; P = 0. 001} and TNF & #945; {6. 14 (8. 95) vs. 3. 61 (3. 58) pg/ml; P & lt; 0. 001} were also increased in WD patients compared to controls.", "output": {"entities": {"gene": [{"text": "IL8", "start": 82, "end": 85}], "disease": [{"text": "WD", "start": 296, "end": 298}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL8", "start": 82, "end": 85}, "tail": {"text": "WD", "start": 296, "end": 298}}]}}, "schema": []}
{"input": "These findings support the hypothesis that the Q223R polymorphism (but not the K109R or K656N polymorphism) of the leptin receptor gene is associated with obesity and predicts a small percentage of body weight and body composition variability in a genetically homogeneous population.", "output": {"entities": {"gene": [{"text": "leptin receptor gene", "start": 115, "end": 135}], "disease": [{"text": "body weight", "start": 198, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "WBCT decreased and PAI activity increased rapidly after hemorrhagic shock in the control group.", "output": {"entities": {"gene": [{"text": "PAI", "start": 19, "end": 22}], "disease": [{"text": "hemorrhagic shock", "start": 56, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Proteins with increased levels include manganese-containing superoxide dismutase and hemoglobin subunit and proteins with decreased expression include sorbitol dehydrogenase, mitochondrial aldehyde dehydrogenase 2, glucose-regulated protein 75, CRY protein, snail homolog 3, thyroid hormone-binding protein precursor, and DJ1 (Parkinson' s disease 7) etc.", "output": {"entities": {"gene": [{"text": "sorbitol dehydrogenase", "start": 151, "end": 173}], "disease": [{"text": "hemoglobin", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "12/15-Lipoxygenase gene disruption and vitamin E administration diminish atherosclerosis and oxidative stress in apolipoprotein E deficient mice through a final common pathway.", "output": {"entities": {"gene": [{"text": "12/15-Lipoxygenase", "start": 0, "end": 18}], "disease": [{"text": "atherosclerosis", "start": 73, "end": 88}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "12/15-Lipoxygenase", "start": 0, "end": 18}, "tail": {"text": "atherosclerosis", "start": 73, "end": 88}}]}}, "schema": []}
{"input": "To determine whether ROS generation contributed to pulmonary fibrosis, we overexpressed catalase in WT monocytes and observed a decrease in ROS generation in vitro.", "output": {"entities": {"gene": [{"text": "catalase", "start": 88, "end": 96}], "disease": [{"text": "pulmonary fibrosis", "start": 51, "end": 69}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 88, "end": 96}, "tail": {"text": "pulmonary fibrosis", "start": 51, "end": 69}}]}}, "schema": []}
{"input": "TPH1, MAOA, serotonin receptor 2A and 2C genes in citalopram response: possible effect in melancholic and psychotic depression.", "output": {"entities": {"gene": [{"text": "serotonin receptor 2A", "start": 12, "end": 33}], "disease": [{"text": "psychotic depression", "start": 106, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "serotonin receptor 2A", "start": 12, "end": 33}, "tail": {"text": "psychotic depression", "start": 106, "end": 126}}]}}, "schema": []}
{"input": "Traditionally, autoimmune pathogeneses have been attributed to CD4 (+) T lymphocytes, as in multiple sclerosis (MS), rheumatoid arthritis, type 1 diabetes mellitus, and/or to B lymphocytes, as in myasthenia gravis and systemic lupus erythematosus.", "output": {"entities": {"gene": [{"text": "CD4", "start": 63, "end": 66}], "disease": [{"text": "myasthenia gravis", "start": 196, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "FGFR2 is associated with bipolar disorder: a large-scale case-control study of three psychiatric disorders in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 0, "end": 5}], "disease": [{"text": "bipolar disorder", "start": 25, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR2", "start": 0, "end": 5}, "tail": {"text": "bipolar disorder", "start": 25, "end": 41}}]}}, "schema": []}
{"input": "Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.", "output": {"entities": {"gene": [{"text": "S100A6", "start": 66, "end": 72}], "disease": [{"text": "medulloblastoma", "start": 134, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A6", "start": 66, "end": 72}, "tail": {"text": "medulloblastoma", "start": 134, "end": 149}}]}}, "schema": []}
{"input": "Furthermore, RAX (S18A) expression in Fanconi anemia complementation group C-null MEF cells not only prevents PKR activation but also blocks hypersensitivity to IFNgamma/TNFalpha or mitomycin C that results in enhanced apoptosis.", "output": {"entities": {"gene": [{"text": "MEF", "start": 82, "end": 85}], "disease": [{"text": "hypersensitivity", "start": 141, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.", "output": {"entities": {"gene": [{"text": "LPL", "start": 66, "end": 69}], "disease": [{"text": "type I hyperlipoproteinemia", "start": 83, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 66, "end": 69}, "tail": {"text": "type I hyperlipoproteinemia", "start": 83, "end": 110}}]}}, "schema": []}
{"input": "We investigated the effects of COX and NOS inhibitors on the healing of duodenal ulcers, in comparison with gastric ulcers, in rats.", "output": {"entities": {"gene": [{"text": "NOS", "start": 39, "end": 42}], "disease": [{"text": "duodenal ulcers", "start": 72, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS", "start": 39, "end": 42}, "tail": {"text": "duodenal ulcers", "start": 72, "end": 87}}]}}, "schema": []}
{"input": "The decrease in Vit D and active Vit D was concomitant with an increase in viral load, as well as levels of IL-17, IL-23 and PIIINP among all subgroups of HCV-infected patients, compared to normal healthy controls.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 108, "end": 113}], "disease": [{"text": "viral load", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We therefore investigated the IL-21/IL-21R system in follicular lymphoma (FL) cells.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 30, "end": 35}], "disease": [{"text": "follicular lymphoma", "start": 53, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "ATP binding cassette transporters (ABCA1, ABCG1) and scavenger receptor class B type I (SR-BI) are the three most important cellular cholesterol transporters that may prevent atherogenesis.", "output": {"entities": {"gene": [{"text": "SR-BI", "start": 88, "end": 93}], "disease": [{"text": "atherogenesis", "start": 175, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Gene expression in patients with endogenous depression was similar to that in the normal controls, except for upregulation of five genes (APP, CREBBP, GNAS, PDCD2 and PDCD6).", "output": {"entities": {"gene": [{"text": "GNAS", "start": 151, "end": 155}], "disease": [{"text": "endogenous depression", "start": 33, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNAS", "start": 151, "end": 155}, "tail": {"text": "endogenous depression", "start": 33, "end": 54}}]}}, "schema": []}
{"input": "Here we present a four-year-old HGPS patient who presented several severe strokes and carried a heterozygous LMNA missense mutation in exon 2: p. Glu138Lys.", "output": {"entities": {"gene": [{"text": "LMNA", "start": 109, "end": 113}], "disease": [{"text": "HGPS", "start": 32, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNA", "start": 109, "end": 113}, "tail": {"text": "HGPS", "start": 32, "end": 36}}]}}, "schema": []}
{"input": "In this study, we evaluated the protein expression level of RhoC in gastric cancer tissues and cell lines.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 60, "end": 64}], "disease": [{"text": "gastric cancer", "start": 68, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Mutations in POLG are increasingly recognized as a cause of refractory occipital lobe epilepsy (OLE) and status epilepticus (SE).", "output": {"entities": {"gene": [{"text": "POLG", "start": 13, "end": 17}], "disease": [{"text": "occipital lobe epilepsy", "start": 71, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the CB1 receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension.", "output": {"entities": {"gene": [{"text": "CB1", "start": 90, "end": 93}], "disease": [{"text": "hypothermia", "start": 142, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB1", "start": 90, "end": 93}, "tail": {"text": "hypothermia", "start": 142, "end": 153}}]}}, "schema": []}
{"input": "A strong and distinct nuclear staining of PAX2 was found in all 39 cases of nephrogenic adenoma (100%), but not in normal prostate tissue, normal urothelium, adenocarcinomas of the prostate gland, and invasive urothelial carcinomas.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 42, "end": 46}], "disease": [{"text": "nephrogenic adenoma", "start": 76, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "ASC deficiency suppresses proliferation and prevents medulloblastoma incidence.", "output": {"entities": {"gene": [{"text": "ASC", "start": 0, "end": 3}], "disease": [{"text": "medulloblastoma", "start": 53, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We have identified a male patient with mental retardation and autism who has a balanced translocation involving chromosomes 6 and 7, described as t (6; 7) (p11-p12; q22).", "output": {"entities": {"gene": [{"text": "p11", "start": 156, "end": 159}], "disease": [{"text": "autism", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.", "output": {"entities": {"gene": [{"text": "COX15", "start": 64, "end": 69}], "disease": [{"text": "Leigh syndrome", "start": 85, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COX15", "start": 64, "end": 69}, "tail": {"text": "Leigh syndrome", "start": 85, "end": 99}}]}}, "schema": []}
{"input": "TRIM37 localizes to peroxisomes classifying Mulibrey nanism as a peroxisomal disorder.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 0, "end": 6}], "disease": [{"text": "Mulibrey nanism", "start": 44, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIM37", "start": 0, "end": 6}, "tail": {"text": "Mulibrey nanism", "start": 44, "end": 59}}]}}, "schema": []}
{"input": "Stress or heat shock proteins (HSPs) such as HSP27 and HSP70 are expressed in response to a wide variety of physiological and environmental insults including heat, reactive oxygen species or anticancer drugs.", "output": {"entities": {"gene": [{"text": "HSP27", "start": 45, "end": 50}], "disease": [{"text": "shock", "start": 15, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "As a whole, our findings indicate that IGF-I overexpression in neural precursors leads to brain overgrowth and fosters external granular layer (EGL) proliferative lesions through a mechanism favoring proliferation over terminal differentiation, acting as a landscape for tumor growth.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 39, "end": 44}], "disease": [{"text": "overgrowth", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Using the electric cell-substrate sensing (ECIS) method, it was further revealed that overexpression of GDF9 in these cells markedly reduced cellular migration and adhesion.", "output": {"entities": {"gene": [{"text": "GDF9", "start": 104, "end": 108}], "disease": [{"text": "adhesion", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We examined MFG-E8 expression in colonic mucosal biopsies from ulcerative colitis patients and healthy controls (n = 26 each) by real-time quantitative polymerase chain reaction (PCR), Western blot analysis and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "MFG-E8", "start": 12, "end": 18}], "disease": [{"text": "ulcerative colitis", "start": 63, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Virally mediated overexpression of HDAC2 in frontal cortex decreased mGlu2 transcription and its electrophysiological properties, thereby increasing psychosis-like behavior.", "output": {"entities": {"gene": [{"text": "HDAC2", "start": 35, "end": 40}], "disease": [{"text": "psychosis", "start": 149, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC2", "start": 35, "end": 40}, "tail": {"text": "psychosis", "start": 149, "end": 158}}]}}, "schema": []}
{"input": "Recipients with renal diseases with potential to recur (membranous glomerulonephritis (MGN), membrano-proliferative glomerulonephritis (MPGN), focal and segmental glomerulonephritis (FSGN), polyarteritis nodosa (PAN), rapid progressive glomerulonephritis (RPGN), Henoch-Schoenlein purpura (HSP), diabetes mellitus (DM), interstitial nephritis, systemic lupus erythematosus (SLE) and chronic glomerulonephritis (CGN)) faired worse as a group than recipients with hypertensive nephrosclerosis (HTN), autosomal dominant polycystic kidney disease (ADPKD), Alport' s, reflux or congenital dysplasia (68 vs. 96% at 10 yr, p = 0. 0009).", "output": {"entities": {"gene": [{"text": "CGN", "start": 411, "end": 414}], "disease": [{"text": "interstitial nephritis", "start": 320, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "Because altered CRBP1 expression and promoter hypermethylation occur in several tumours, these changes were investigated in prostate tumorigenesis.", "output": {"entities": {"gene": [{"text": "CRBP1", "start": 16, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.", "output": {"entities": {"gene": [{"text": "PIGW", "start": 76, "end": 80}], "disease": [{"text": "hyperphosphatasia with mental retardation", "start": 118, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIGW", "start": 76, "end": 80}, "tail": {"text": "hyperphosphatasia with mental retardation", "start": 118, "end": 159}}]}}, "schema": []}
{"input": "Our findings indicated that the COMT gene, impulsive personality traits and childhood trauma experience were interacted to impact the age of onset of heroin use, which play a critical role in the development of heroin dependence.", "output": {"entities": {"gene": [{"text": "COMT gene", "start": 32, "end": 41}], "disease": [{"text": "personality traits", "start": 53, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "As BCL2 protein expression is usually associated with the presence of a BCL2 translocation, fluorescence in situ hybridization should be performed to confirm this hypothesis.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 3, "end": 7}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The residual activity observed with P225L exhibits normal pH dependence, little or no increases in the Km values for ornithine and carbamoyl phosphate and normal stability at either 37 degrees C or, in the presence of 0. 66 mol/L urea, at 0 degree C. The latter conditions were used to examine whether the P225L mutation favours dissociation of the active OTC trimer.", "output": {"entities": {"gene": [{"text": "OTC", "start": 356, "end": 359}], "disease": [{"text": "dissociation", "start": 329, "end": 341}]}, "relations": {}}, "schema": []}
{"input": "Nucleotide variation in IL-10 and IL-12 and their receptors and cervical and vulvar cancer risk: a hybrid case-parent triad and case-control study.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 24, "end": 29}], "disease": [{"text": "vulvar cancer", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the expression of a constitutively active AKT forced the translocation of CSE1L from the cytoplasm to the nucleus in other cancer cells.", "output": {"entities": {"gene": [{"text": "AKT", "start": 52, "end": 55}], "disease": [{"text": "translocation", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The leukaemia-specific fusion oncoprotein RUNX1/RUNX1T1 (AML1/ETO), resulting from the chromosomal translocation (8; 21) in acute myeloid leukaemia (AML), imposes a striking genotype-phenotype relationship upon this distinct subtype of AML, which is mediated by multiple, co-ordinate downstream effects induced by this chimeric transcription factor.", "output": {"entities": {"gene": [{"text": "AML1", "start": 57, "end": 61}], "disease": [{"text": "chromosomal translocation", "start": 87, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 178, "end": 183}], "disease": [{"text": "PED", "start": 44, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT1", "start": 178, "end": 183}, "tail": {"text": "PED", "start": 44, "end": 47}}]}}, "schema": []}
{"input": "C-MYC/IGH translocation is possibly an evolutionary alteration following the primary IGH translocation with BCL1, BCL2, or BCL6.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 114, "end": 118}], "disease": [{"text": "translocation", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "MV infection causes temporal host immune suppression, which may appear secondary to signaling events through MCP on macrophages and dendritic cells.", "output": {"entities": {"gene": [{"text": "MCP", "start": 109, "end": 112}], "disease": [{"text": "immune suppression", "start": 34, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Perturbation of eight out of the nine genes, with Gas7, Me1 and Gpx3 being newly confirmed, resulted in significant changes in obesity-related traits.", "output": {"entities": {"gene": [{"text": "Gas7", "start": 50, "end": 54}], "disease": [{"text": "obesity", "start": 127, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gas7", "start": 50, "end": 54}, "tail": {"text": "obesity", "start": 127, "end": 134}}]}}, "schema": []}
{"input": "We conclude: (a) diabetic carriers of dysfunctional LPL alleles are at risk for severe lipemia; and (b) the physiologic defects in NIDDM may be additive or synergistic with heterozygous LPL deficiency.", "output": {"entities": {"gene": [{"text": "LPL", "start": 52, "end": 55}], "disease": [{"text": "LPL deficiency", "start": 186, "end": 200}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 52, "end": 55}, "tail": {"text": "LPL deficiency", "start": 186, "end": 200}}]}}, "schema": []}
{"input": "The presence of complex coronary plaque was associated with higher serum concentrations of IL-6 (P = 0. 026) and CRP (P < 0. 0001).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 91, "end": 95}], "disease": [{"text": "plaque", "start": 33, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Indomethacin produced multiple lesions in glandular mucosa, evidenced by marked increase in gastric ulcer index (GUI) accompanied by significant increases in gastric juice acidity, tissue myeloperoxidase (MPO) activity, serum NO and tissue conjugated diene (CD), and marked decreases in tissue NO and glutathione (GSH) as well as glutathione reductase (GR) and superoxide dismutase (SOD) activities, while gastric juice mucin and tissue glutathione peroxidase (GPx) were not affected.", "output": {"entities": {"gene": [{"text": "glutathione reductase", "start": 330, "end": 351}], "disease": [{"text": "gastric ulcer", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "A majority of the lymphomas expressed higher mRNA levels of CB1 and/or CB2 as compared to reactive lymphoid tissue.", "output": {"entities": {"gene": [{"text": "CB2", "start": 71, "end": 74}], "disease": [{"text": "lymphomas", "start": 18, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings did not support the model in which SARS-CoV N protein specifically modulates transcription of the FGL2 gene to cause fibrosis and vascular thrombosis.", "output": {"entities": {"gene": [{"text": "FGL2 gene", "start": 127, "end": 136}], "disease": [{"text": "fibrosis", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The 5-and 10-year survival of women with a BRCA1-associated breast cancer detected in a national MRI-based screening program in BRCA1 mutation carriers Norway was less than anticipated.", "output": {"entities": {"gene": [{"text": "MRI", "start": 97, "end": 100}], "disease": [{"text": "breast cancer", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "For FISH, archival tissue (n = 6) and fresh endometriotic touch preparations were prepared from women (n = 8) undergoing extirpation of advanced stage endometriosis.", "output": {"entities": {"gene": [{"text": "FISH", "start": 4, "end": 8}], "disease": [{"text": "endometriosis", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Losses of heterozygosity and/or microsatellite instability have been detected in a large number of skin samples from breast cancer patients, suggesting a potential role of MMR in breast cancer susceptibility.", "output": {"entities": {"gene": [{"text": "MMR", "start": 172, "end": 175}], "disease": [{"text": "microsatellite instability", "start": 32, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Using quantitative real-time PCR (Q-PCR), we show that Prx3 is also downregulated in spinal motor neurons from patients with both sporadic (sMND) and SOD1-related fMND.", "output": {"entities": {"gene": [{"text": "Prx3", "start": 55, "end": 59}], "disease": [{"text": "MND", "start": 141, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Prx3", "start": 55, "end": 59}, "tail": {"text": "MND", "start": 141, "end": 144}}]}}, "schema": []}
{"input": "Human adenoviruses from multiple species bind to coagulation factor X (FX), yet the importance of this interaction in adenovirus dissemination is unknown.", "output": {"entities": {"gene": [{"text": "coagulation factor X", "start": 49, "end": 69}], "disease": [{"text": "adenovirus", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "We found significant difference in creatinine level in DN and NDN groups on comparison with control group.", "output": {"entities": {"gene": [{"text": "NDN", "start": 62, "end": 65}], "disease": [{"text": "creatinine level", "start": 35, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The data suggest that the expression of EIF3S3 is increased in prostate cancer, and that one of the mechanisms underlying the overexpression is the amplification of the gene.", "output": {"entities": {"gene": [{"text": "EIF3S3", "start": 40, "end": 46}], "disease": [{"text": "prostate cancer", "start": 63, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EIF3S3", "start": 40, "end": 46}, "tail": {"text": "prostate cancer", "start": 63, "end": 78}}]}}, "schema": []}
{"input": "We conducted a case-control study of colorectal adenoma (914 cases, 1185 controls) and CRC (496 cases, 607 controls) among Japanese Americans, European Americans and Native Hawaiians to investigate the association of genetic variation in the PAH and HAA bioactivation pathway (CYP1A1, CYP1A2, CYP1B1, AHR and ARNT) identified through sequencing with risk of colorectal neoplasia, as well as their interactions with smoking and intakes of red meat and HAAs.", "output": {"entities": {"gene": [{"text": "AHR", "start": 301, "end": 304}], "disease": [{"text": "smoking", "start": 415, "end": 422}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, DBC1-deficient mice were protected from HFD-induced liver steatosis and inflammation, despite the development of obesity.", "output": {"entities": {"gene": [{"text": "DBC1", "start": 13, "end": 17}], "disease": [{"text": "liver steatosis", "start": 65, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "This study was designed to evaluate the effect of adenovirus-mediated in vitro gene transfer of tissue inhibitor of metalloproteinases-2 (TIMP-2) and phosphatase and tensin homology deleted on chromosome ten (PTEN) on invasion of human U87 glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 236, "end": 239}], "disease": [{"text": "glioma", "start": 240, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "In atopic asthma, the frequency of IL-10 + IFN-gamma-IL-4-CD4 + cells in the severe group was significantly lower than that in the mild group.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 35, "end": 40}], "disease": [{"text": "mild", "start": 131, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Epidermal growth factor receptor (EGFR) gene amplification and protein expression in malignant gliomas (anaplastic astrocytoma, AA and glioblastoma, GBL) were suggested to be correlated with the degree of malignancy.", "output": {"entities": {"gene": [{"text": "GBL", "start": 149, "end": 152}], "disease": [{"text": "glioblastoma", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Clonal expansions of CD4 + B helper T cells in autoimmune myasthenia gravis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 21, "end": 24}], "disease": [{"text": "myasthenia gravis", "start": 58, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Expression of bcl-2 is most commonly associated with the t (14; 18) translocation present in most folicular lymphomas (1).", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 14, "end": 19}], "disease": [{"text": "translocation", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Alternatively, other as yet unknown imprinted gene (s) adjacent to IMPACT could contribute to the BPAD trait, since multiple imprinted genes may occasionally form clusters.", "output": {"entities": {"gene": [{"text": "IMPACT", "start": 67, "end": 73}], "disease": [{"text": "BPAD", "start": 98, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IMPACT", "start": 67, "end": 73}, "tail": {"text": "BPAD", "start": 98, "end": 102}}]}}, "schema": []}
{"input": "The data indicate that DBS, like other effective antidepressant treatments, may contribute to an increase in peripheral BDNF levels, which are thought to reflect central nervous DBS-induced neuroplastic changes.", "output": {"entities": {"gene": [{"text": "DBS", "start": 23, "end": 26}], "disease": [{"text": "nervous", "start": 170, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Intermittent clamping of the porta hepatis (PHC) is commonly performed during liver surgery to reduce blood loss and has been reported to precondition livers resulting in improved outcome after liver surgery (humans) and transplantation (animals).", "output": {"entities": {"gene": [{"text": "PHC", "start": 44, "end": 47}], "disease": [{"text": "blood loss", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to examine whether the circulating cell adhesion molecules, von Willebrand factor (vWf) and endothelin-1, are elevated in patients with essential hypertension with no other risk factors for atherosclerosis and thus may serve as a markers of endothelial dysfunction in uncomplicated hypertension.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 85, "end": 106}], "disease": [{"text": "essential hypertension", "start": 161, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "We screened the expression profile of AQP0 approximately AQP12 in gastric adenocarcinoma tissues and corresponding normal mucosa from 89 patients with gastric cancer by reverse transcriptase polymerase chain reaction (RT-PCR), Western blot analysis and immunochemical assay.", "output": {"entities": {"gene": [{"text": "AQP12", "start": 57, "end": 62}], "disease": [{"text": "gastric adenocarcinoma", "start": 66, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "All affected subjects had abnormal pattern electroretinograms (ERGs) consistent with macular dysfunction and 4 subjects showed additional full-field ERG abnormalities, providing evidence of generalized retinal dysfunction.", "output": {"entities": {"gene": [{"text": "ERG", "start": 63, "end": 66}], "disease": [{"text": "abnormalities", "start": 153, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "AMPKalpha2 repression with RNA interference reduced hypoxia-induced VEGF mRNA and HIF-1 transcription, whereas AMPKalpha1 repression did not.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 68, "end": 72}], "disease": [{"text": "hypoxia", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the MMAC/PTEN (phosphatase and tensin homologue deleted on chromosome 10) gene are documented in cancers of the breast, prostate, ovary, colon, melanoma, glioblastoma, lymphoma and endometrium.", "output": {"entities": {"gene": [{"text": "tensin", "start": 44, "end": 50}], "disease": [{"text": "glioblastoma", "start": 167, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "17AAGA diminished hypoxia-induced upregulation of VEGF expression as well as growth factor-mediated augmentation of MMP-9 secretion, and profoundly inhibited the ability of H322 and H358 cells to migrate through Matrigel in response to chemoattractants.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 50, "end": 54}], "disease": [{"text": "hypoxia", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "It has been shown that mesothelioma expresses the antiapoptotic protein BCL-XL, but not BCL-2, rendering bcl-xl gene expression a potential therapeutic target.", "output": {"entities": {"gene": [{"text": "bcl-xl", "start": 105, "end": 111}], "disease": [{"text": "mesothelioma", "start": 23, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Although the mechanism of such alterations in MARCKS in depressed and non-depressed suicide subjects is not clear, results of the present study indicate that an increase in membrane MARCKS is associated with depressed suicide victims and a decrease in MARCKS phosphorylation may be a common feature of suicide victims independent of diagnosis.", "output": {"entities": {"gene": [{"text": "MARCKS", "start": 46, "end": 52}], "disease": [{"text": "suicide", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In vitro studies also confirmed that Tanshinone IIA alleviated the hypoxia-induced decline of cell viability and the overload of intracellular free iron level in neurons through downregulating the expression of DMT1 and TfR, and upregulating the expression of Fpn1 and Heph.", "output": {"entities": {"gene": [{"text": "Fpn1", "start": 260, "end": 264}], "disease": [{"text": "hypoxia", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Blockade of Noxa reduced the apoptotic response of embryonal carcinoma (EC) NTERA2 cells to cisplatin.", "output": {"entities": {"gene": [{"text": "Noxa", "start": 12, "end": 16}], "disease": [{"text": "embryonal carcinoma", "start": 51, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Non-small cell lung cancer (NSCLC) tumors have increased microvascular density, localized hypoxia, and high VEGF expression levels; however, there is a lack of understanding of how oncogenic and tumor microenvironment changes such as hypoxia lead to greater VEGF expression in lung and other cancers.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 108, "end": 112}], "disease": [{"text": "hypoxia", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Increased p53 expression, a measurement of p53 mutations, was observed in BE with high grade dysplasia (HGD) and in BE-associated esophageal cancer (EC).", "output": {"entities": {"gene": [{"text": "HGD", "start": 104, "end": 107}], "disease": [{"text": "esophageal cancer", "start": 130, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The available literature is still controversial and shows that surgical (parathyroidectomy, PTX) or medical (calcitriol) treatment actually improved or even corrected the rhEPO-resistant anemia of ESRD patients with severe SHP.", "output": {"entities": {"gene": [{"text": "SHP", "start": 223, "end": 226}], "disease": [{"text": "anemia", "start": 187, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four-hour DBP, 24-h MBP, LVM, LVM: height ratio, total cholesterol and PRA values were significantly higher in normotensive obese offspring of hypertensive parents than in obese offspring of normotensive parents.", "output": {"entities": {"gene": [{"text": "PRA", "start": 78, "end": 81}], "disease": [{"text": "height", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We identified germline LZTR1 mutations in 6 of 16 patients (37. 5%) with schwannomatosis who had at least one affected relative, 11 of 49 (22%) sporadic patients, and 2 of 39 patients with UVS in our cohort.", "output": {"entities": {"gene": [{"text": "LZTR1", "start": 23, "end": 28}], "disease": [{"text": "sporadic", "start": 144, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We investigate whether interleukin-10 (IL-10)-1082 G/G genotype is associated with the mortality rate of acute respiratory distress syndrome (ARDS) in a hospital-based case-control study in China conducted on 314 patients with ARDS and 210 controls admitted to an intensive care unit for sepsis, trauma, aspiration, or massive transfusions.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 39, "end": 44}], "disease": [{"text": "aspiration", "start": 304, "end": 314}]}, "relations": {}}, "schema": []}
{"input": "Changes in the expression of genes related to neuroinflammation over the course of sporadic Alzheimer' s disease progression: CX3CL1, TREM2, and PPARγ.", "output": {"entities": {"gene": [{"text": "CX3CL1", "start": 126, "end": 132}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "A subset of patients with MTS have a variant of the hereditary nonpolyposis colorectal cancer syndrome caused by mutations in mismatch repair (MMR) genes, which lead to microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 143, "end": 146}], "disease": [{"text": "microsatellite instability", "start": 169, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: RUNX1 copy numbers seem to be proportional to the age of B-ALL onset and the frequency of CSF involvement, while RUNX1 amplification vs translocation causes aberrant expression of CD7 and CD13, respectively.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 13, "end": 18}], "disease": [{"text": "translocation", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "In five patients with surgically resected glioblastoma who were inoculated with \" triple helix \" cells, PBL showed an increased percentage of CD4 + CD25 + and CD8 + CD11b-cells, following two vaccinations.", "output": {"entities": {"gene": [{"text": "CD4", "start": 142, "end": 145}], "disease": [{"text": "glioblastoma", "start": 42, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "It was therefore hypothesised that an MGMT field defect may constitute a preneoplastic event for the development of MMR-deficient tumours displaying microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 116, "end": 119}], "disease": [{"text": "microsatellite instability", "start": 149, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.", "output": {"entities": {"gene": [{"text": "keratin 17", "start": 22, "end": 32}], "disease": [{"text": "pachyonychia congenita type 2", "start": 46, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 17", "start": 22, "end": 32}, "tail": {"text": "pachyonychia congenita type 2", "start": 46, "end": 75}}]}}, "schema": []}
{"input": "The GAT1-mediated release of [(3) H] d-ASP was significantly enhanced in spinal cord gliosomes from the mouse model of ALS.", "output": {"entities": {"gene": [{"text": "GAT1", "start": 4, "end": 8}], "disease": [{"text": "ALS", "start": 119, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAT1", "start": 4, "end": 8}, "tail": {"text": "ALS", "start": 119, "end": 122}}]}}, "schema": []}
{"input": "Arg607-Gln and Arg608-Lys point mutations in the DNA-binding domain of the AR gene have been associated with male breast cancer in partial androgen insensitivity syndrome.", "output": {"entities": {"gene": [{"text": "AR", "start": 75, "end": 77}], "disease": [{"text": "partial androgen insensitivity syndrome", "start": 131, "end": 170}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AR", "start": 75, "end": 77}, "tail": {"text": "partial androgen insensitivity syndrome", "start": 131, "end": 170}}]}}, "schema": []}
{"input": "LINGO1 has potent, negative regulatory influences on neuronal survival and is also important in regulating both central-nervous-system axon regeneration and oligodendrocyte maturation.", "output": {"entities": {"gene": [{"text": "LINGO1", "start": 0, "end": 6}], "disease": [{"text": "nervous", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "We have used a conditional gene-targeting approach to investigate the relative contributions of HIF-1 and HIF-2 to VHL-associated vascular tumorigenesis in a mouse model of liver hemangiomas.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 96, "end": 101}], "disease": [{"text": "tumorigenesis", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We found that CART and nesfatin/NUCB2 colocalized in the human EWcp, and that CART mRNA content was much higher in both male (× 3. 8) and female (× 5. 9) drug-free suicide victims than in controls (persons who died without any diagnosed neurodegenerative or psychiatric disorder).", "output": {"entities": {"gene": [{"text": "NUCB2", "start": 32, "end": 37}], "disease": [{"text": "suicide", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "A diagnosis of BCR-ABL1 (p190)-positive and ETV6-RUNX1-positive B-ALL was made, and treatment was initiated according to the AIEOP-BFM-ALL2000 protocol.", "output": {"entities": {"gene": [{"text": "ABL1", "start": 19, "end": 23}], "disease": [{"text": "B-ALL", "start": 64, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABL1", "start": 19, "end": 23}, "tail": {"text": "B-ALL", "start": 64, "end": 69}}]}}, "schema": []}
{"input": "Lack of involvement of ataxia telangiectasia mutated (ATM) in regulation of nuclear factor-kappaB (NF-kappaB) in human diploid fibroblasts.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 99, "end": 108}], "disease": [{"text": "telangiectasia", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Our results disclosed an important role of BTG3 in lung tumorigenesis.", "output": {"entities": {"gene": [{"text": "BTG3", "start": 43, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Likewise, there was a reduction in PTEN levels in human premalignant actinic keratosis and malignant SCCs, supporting a key role for PTEN in human skin cancer formation and progression.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 35, "end": 39}], "disease": [{"text": "actinic keratosis", "start": 69, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Down-regulation of neutrophil gelatinase-associated lipocalin in head and neck squamous cell carcinoma correlated with tumorigenesis, not with metastasis.", "output": {"entities": {"gene": [{"text": "neutrophil gelatinase-associated lipocalin", "start": 19, "end": 61}], "disease": [{"text": "tumorigenesis", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated the effects of mouse interleukin-6 (IL-6) on the classical behavioural test of scopolamine-induced amnesia for a passive avoidance response in the mouse. Pretraining i. p. administration of this cytokine (0. 125 and 0. 5 microgram/mouse) significantly reduced the amnesic action of the muscarinic receptor antagonist.", "output": {"entities": {"gene": [{"text": "interleukin-6", "start": 49, "end": 62}], "disease": [{"text": "amnesia", "start": 127, "end": 134}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interleukin-6", "start": 49, "end": 62}, "tail": {"text": "amnesia", "start": 127, "end": 134}}]}}, "schema": []}
{"input": "The aim of this study was to identify the mutations in two previously characterized clusters of patients with Dubin-Johnson syndrome among Iranian and Moroccan Jews and determine the consequence of the mutations on MRP2 expression and function by expression studies.", "output": {"entities": {"gene": [{"text": "MRP2", "start": 215, "end": 219}], "disease": [{"text": "Dubin-Johnson syndrome", "start": 110, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MRP2", "start": 215, "end": 219}, "tail": {"text": "Dubin-Johnson syndrome", "start": 110, "end": 132}}]}}, "schema": []}
{"input": "We now report that in comparison to LacZ transfected control mice gene transfer with sMSR adenoviruses via tail vein injection (1 x 10 (9) pfu) reduces atherosclerotic lesion area in hypercholesterolemic LDL receptor knock-out mice by 14 (P < 0. 05) and 19% (P = 0. 01), 4 and 6 weeks after the gene transfer.", "output": {"entities": {"gene": [{"text": "mice gene", "start": 61, "end": 70}], "disease": [{"text": "atherosclerotic lesion", "start": 152, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "We identified one patient with typical CDG-Ic symptoms and a homozygous p. Tyr131His alteration in ALG6.", "output": {"entities": {"gene": [{"text": "ALG6", "start": 99, "end": 103}], "disease": [{"text": "CDG-Ic", "start": 39, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALG6", "start": 99, "end": 103}, "tail": {"text": "CDG-Ic", "start": 39, "end": 45}}]}}, "schema": []}
{"input": "A recently developed, highly sensitive HGF assay can detect the early stages of arterial thrombosis in patients with unstable angina pectoris, acute aortic dissection and pulmonary thromboembolism.", "output": {"entities": {"gene": [{"text": "HGF", "start": 39, "end": 42}], "disease": [{"text": "unstable angina pectoris", "start": 117, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "We have generated a murine model of the t (8; 21) translocation by retroviral expression of AML1-ETO in purified hematopoietic stem cells (HSC).", "output": {"entities": {"gene": [{"text": "AML1", "start": 92, "end": 96}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Allele 1 of the IL-1RN polymorphism was significantly increased in patients compared with controls (72. 0 vs. 63. 0%; p = 0. 029, Pc = 0. 029), in severe cases compared with controls (81. 9 vs. 63. 0%; p = 0. 002, Pc = 0. 004), in idiopathics compared with controls (82. 4 vs. 63. 0%; p = 0. 002, Pc = 0. 006), and in severe cases compared with mild cases (81. 9 vs. 67. 5%; p = 0. 023, Pc = 0. 046).", "output": {"entities": {"gene": [{"text": "IL-1RN", "start": 16, "end": 22}], "disease": [{"text": "mild", "start": 345, "end": 349}]}, "relations": {}}, "schema": []}
{"input": "This effect of hypoxia provides a novel mechanism to increase VEGFA expression in prostate cancer cells.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 62, "end": 67}], "disease": [{"text": "hypoxia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Cardiac syndrome X (CSX) is defined by typical chest pain, ST segment depression on ECG and normal coronary angiography.", "output": {"entities": {"gene": [{"text": "CSX", "start": 20, "end": 23}], "disease": [{"text": "chest pain", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The majority of these mice displayed severe hypertrophy (heart-to-body weight ratios & gt; 2-fold greater in the Rac1 mice) and died from overt heart failure between days 14 and 17.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 113, "end": 117}], "disease": [{"text": "heart failure", "start": 144, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rac1", "start": 113, "end": 117}, "tail": {"text": "heart failure", "start": 144, "end": 157}}]}}, "schema": []}
{"input": "T2DM patients with RBP4 T-179G TT genotype showed lower waist-to-hip ratio (WHR), FPG and FINS values compared with that in the TG + GG genotype individuals.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 19, "end": 23}], "disease": [{"text": "waist-to-hip ratio", "start": 56, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Cigarette smoking is common in cannabis users, but it was not associated to PENK SNPs as also validated in another cohort (N & #8202; = & #8202; 247 smokers, N & #8202; = & #8202; 312 non-smokers).", "output": {"entities": {"gene": [{"text": "PENK", "start": 76, "end": 80}], "disease": [{"text": "cannabis", "start": 31, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PENK", "start": 76, "end": 80}, "tail": {"text": "cannabis", "start": 31, "end": 39}}]}}, "schema": []}
{"input": "Single-marker analysis revealed a significant association of FOXP3 C-2383T and FCRL3 C-169T, independently, with endometriosis-related infertility, regardless of the stage of the disease.", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 61, "end": 66}], "disease": [{"text": "infertility", "start": 135, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Trans-activation-responsive DNA-binding protein 43 (TDP-43) is a component of pathological inclusions in amyotrophic lateral sclerosis and several forms of sporadic and familial frontotemporal lobar degeneration.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 28, "end": 47}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 105, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Data are insufficient to recommend the routine use of p53, ras, thymidine synthase, dihydropyrimidine dehydrogenase, thymidine phosphorylase, microsatellite instability, 18q loss of heterozygosity, or deleted in colon cancer (DCC) protein in the management of patients with colorectal cancer.", "output": {"entities": {"gene": [{"text": "dihydropyrimidine dehydrogenase", "start": 84, "end": 115}], "disease": [{"text": "microsatellite instability", "start": 142, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Phosphorylated Shc is associated with FAK in the anaplastic astrocytoma biopsy samples and in astrocytoma cells overexpressing FAK in vitro but not in nonneoplastic brain biopsy samples.", "output": {"entities": {"gene": [{"text": "FAK", "start": 38, "end": 41}], "disease": [{"text": "anaplastic astrocytoma", "start": 49, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "IGF is well tolerated, though there may be overgrowth of the lymphoid tissues and the kidneys.", "output": {"entities": {"gene": [{"text": "IGF", "start": 0, "end": 3}], "disease": [{"text": "overgrowth", "start": 43, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, in Asian patients the frequencies of EGFR mutations were similar in never smokers and in the cohorts with less than 45pack-year histories of smoking and only decreased in the 45pack-year plus cohort.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 52, "end": 56}], "disease": [{"text": "smoking", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The FTO rs9939609 variant was associated with overweight/obesity (OR 1. 40, 95% CI 1. 21-1. 63, P < 0. 001).", "output": {"entities": {"gene": [{"text": "FTO", "start": 4, "end": 7}], "disease": [{"text": "overweight", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Some ovarian cancer cells were found in a G0 quiescent state, with the highest fraction in a line with an amplified Mirk gene.", "output": {"entities": {"gene": [{"text": "Mirk", "start": 116, "end": 120}], "disease": [{"text": "ovarian cancer", "start": 5, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mirk", "start": 116, "end": 120}, "tail": {"text": "ovarian cancer", "start": 5, "end": 19}}]}}, "schema": []}
{"input": "GRK2 deletion in the preimplantation embryo with EIIa-Cre (germline null) resulted in developmental retardation and embryonic lethality between embryonic day 10. 5 (E10. 5) and E11. 5.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 0, "end": 4}], "disease": [{"text": "developmental retardation", "start": 86, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Present results show that VEGF plasmid treatment after stroke can significantly reduce infarct volume and enhance striatal neurogenesis in adult rat brain.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 26, "end": 30}], "disease": [{"text": "infarct", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Consistent with this result, we find that two mothers of children with TBS, who have epilepsy but are otherwise healthy, are low-level (10% and 27%) mosaic carriers of pathogenic KCNH1 mutations.", "output": {"entities": {"gene": [{"text": "KCNH1", "start": 179, "end": 184}], "disease": [{"text": "TBS", "start": 71, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNH1", "start": 179, "end": 184}, "tail": {"text": "TBS", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "Using messenger RNA (mRNA) in situ hybridization, we investigated estrogen receptor-beta (ERbeta) mRNA levels in normal mammary, benign breast tumor (BBT), breast cancer (BC), and metastatic lymph node tissues to verify the role of ERbeta in BC development and progression.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 66, "end": 83}], "disease": [{"text": "benign breast tumor", "start": 129, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "To this end reverse transcription-polymerase chain reaction (RT-PCR) was performed for interferon (IFN) gamma, interleukin (IL)-2, IL-4, IL-5, IL-10, IL-12 (p35 and p40), and transforming growth factor (TGF beta 1) in snap-frozen cervical biopsies, which were tested for the presence of high risk HPV DNA and histologically classified from normal to invasive carcinoma (n = 40).", "output": {"entities": {"gene": [{"text": "p35", "start": 157, "end": 160}], "disease": [{"text": "invasive carcinoma", "start": 350, "end": 368}]}, "relations": {}}, "schema": []}
{"input": "mRNA and protein expression of PUMA in sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "PUMA", "start": 31, "end": 35}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "A survey of DNA from 85 colorectal tumours revealed that one with extensive microsatellite instability (RER + phenotype) has mutations in both alleles of CDX2.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 154, "end": 158}], "disease": [{"text": "microsatellite instability", "start": 76, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Recent data suggest that cyclin D3 may be deregulated in extranodal non-Hodgkin' s lymphomas (NHLs) as a consequence of the t (6; 14) (p21. 1; q32. 3) translocation.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 25, "end": 34}], "disease": [{"text": "translocation", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Detection of the t (11; 18) API2/MALT1 translocation associated with gastric MALT lymphoma in routine formalin-fixed, paraffin-embedded small endoscopic biopsy specimens by robust real-time RT-PCR.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 33, "end": 38}], "disease": [{"text": "translocation", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "On, multivariate analysis, BI was significantly affected by MMSE, APOE, IL-1 & #945;, IL-6, LIF and TNF-& #945; levels (p & lt; 0. 05) but not by delirium.", "output": {"entities": {"gene": [{"text": "LIF", "start": 92, "end": 95}], "disease": [{"text": "delirium", "start": 146, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LIF", "start": 92, "end": 95}, "tail": {"text": "delirium", "start": 146, "end": 154}}]}}, "schema": []}
{"input": "Variations in the serine protease 1 (PRSS1) gene encoding human cationic trypsinogen have been conclusively associated with autosomal dominant hereditary pancreatitis and sporadic nonalcoholic chronic pancreatitis.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 37, "end": 42}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Pharmacologic inhibition of AMCase with ip allosamidin inhibited both OVA induced increases in esophageal eosinophilic inflammation and OVA induced esophageal remodeling (fibrosis, epithelial basal zone hyperplasia, extracellular matrix deposition of fibronectin).", "output": {"entities": {"gene": [{"text": "AMCase", "start": 28, "end": 34}], "disease": [{"text": "fibrosis", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.", "output": {"entities": {"gene": [{"text": "BIN1", "start": 28, "end": 32}], "disease": [{"text": "autosomal recessive centronuclear myopathy", "start": 79, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BIN1", "start": 28, "end": 32}, "tail": {"text": "autosomal recessive centronuclear myopathy", "start": 79, "end": 121}}]}}, "schema": []}
{"input": "A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.", "output": {"entities": {"gene": [{"text": "HTRA1", "start": 11, "end": 16}], "disease": [{"text": "CARASIL syndrome", "start": 34, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HTRA1", "start": 11, "end": 16}, "tail": {"text": "CARASIL syndrome", "start": 34, "end": 50}}]}}, "schema": []}
{"input": "Since that time, BRCA1 has been linked to several key nuclear functions connected with the prevention of genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 17, "end": 22}], "disease": [{"text": "genomic instability", "start": 105, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Although sequence variants (SVs) in THAP1 have been reported in rare cases of BSP, the genetic causes of this focal dystonia remain largely unknown.", "output": {"entities": {"gene": [{"text": "BSP", "start": 78, "end": 81}], "disease": [{"text": "focal dystonia", "start": 110, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Our goal was to examine the joint effects of MC1R variants and other potential risk factors [total nevi, dysplastic nevi, pigmentary traits (skin, hair and eye color), skin reactions to sunlight, and degree of sun exposure] on CDKN2A penetrance.", "output": {"entities": {"gene": [{"text": "CDKN2A", "start": 227, "end": 233}], "disease": [{"text": "eye color", "start": 156, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We investigated the relationship between a single nucleotide polymorphism (SNP) rs4803455 in TGFB1 and atherosclerosis identified by the presence of carotid plaque and increased intima-media thickness (IMT) in an older Chinese population.", "output": {"entities": {"gene": [{"text": "TGFB1", "start": 93, "end": 98}], "disease": [{"text": "plaque", "start": 157, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that presence of a phenolic group in 4-HEB is critical for its selective toxicity towards melanoma cells.", "output": {"entities": {"gene": [{"text": "HEB", "start": 60, "end": 63}], "disease": [{"text": "melanoma", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Our results also show that, like EGCG, the synthetic analog inhibits hypoxia-and serum starvation-induced production of VEGF mRNA in breast cancer cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 120, "end": 124}], "disease": [{"text": "hypoxia", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the up-regulation of STC2 gene expression resulting from abnormal α-klotho-Fgf23 signaling may contribute to limitation of ectopic calcification and thus STC2 represents a novel target gene for cardio-renal syndrome.", "output": {"entities": {"gene": [{"text": "STC2", "start": 48, "end": 52}], "disease": [{"text": "ectopic calcification", "start": 150, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.", "output": {"entities": {"gene": [{"text": "RARB", "start": 114, "end": 118}], "disease": [{"text": "ASD", "start": 194, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RARB", "start": 114, "end": 118}, "tail": {"text": "ASD", "start": 194, "end": 197}}]}}, "schema": []}
{"input": "Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and Behçet' s disease.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 90, "end": 95}], "disease": [{"text": "spondylitis", "start": 39, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Since anoctamin 1 ANO1 (TMEM16A) was found to be a molecular component of Ca (2 +)-activated Cl (-) channels, its role in tumorigenesis has gained attention at a fast pace.", "output": {"entities": {"gene": [{"text": "TMEM16A", "start": 24, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The cytochrome P-450 (CYP) 2C9 (CYP2C9) enzyme is involved in the metabolism of several drugs, including possibly aspirin, and such carcinogens as smoking-related polycyclic aromatic hydrocarbons.", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 32, "end": 38}], "disease": [{"text": "smoking", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The analysis revealed that highly invasive breast cancer cells produce high amounts of hyaluronan and express preferentially HAS2 mRNA, whereas less invasive breast cancer cells produce low amount of hyaluronan and express HAS1 and HYAL1 mRNAs.", "output": {"entities": {"gene": [{"text": "HAS1", "start": 223, "end": 227}], "disease": [{"text": "invasive breast cancer", "start": 34, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "However, such hypersensitivity to CPT observed with RAD18-/-cells was limited to only the S phase due to the absence of the RAD18 S phase-specific function.", "output": {"entities": {"gene": [{"text": "RAD18", "start": 52, "end": 57}], "disease": [{"text": "hypersensitivity", "start": 14, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Gypenosides causes DNA damage and inhibits expression of DNA repair genes of human oral cancer SAS cells.", "output": {"entities": {"gene": [{"text": "SAS", "start": 95, "end": 98}], "disease": [{"text": "oral cancer", "start": 83, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The early-onset dysthymics showed a higher number of persons who had never married, who presented a more traumatic and frustrating childhood background, and who had a higher rate of DST non-suppressors and blunted TSH responses after TRH administration during the period of their double depression.", "output": {"entities": {"gene": [{"text": "TRH", "start": 234, "end": 237}], "disease": [{"text": "depression", "start": 287, "end": 297}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 234, "end": 237}, "tail": {"text": "depression", "start": 287, "end": 297}}]}}, "schema": []}
{"input": "Recently, however, a homozygous nonsense DIAPH1 mutation (c. 2332C4T; p. Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis.", "output": {"entities": {"gene": [{"text": "DIAPH1", "start": 41, "end": 47}], "disease": [{"text": "developmental delay", "start": 188, "end": 207}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DIAPH1", "start": 41, "end": 47}, "tail": {"text": "developmental delay", "start": 188, "end": 207}}]}}, "schema": []}
{"input": "Here, we report that epidermal growth factor (EGF) increases the expression of claudin-3 in human colorectal adenocarcinoma HT-29 cells.", "output": {"entities": {"gene": [{"text": "claudin-3", "start": 79, "end": 88}], "disease": [{"text": "colorectal adenocarcinoma", "start": 98, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We conclude that most but not all 12p cytogenetic abnormalities in childhood ALL involve ETV6, and that rearrangement of ETV6 is associated with a favorable treatment outcome.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 89, "end": 93}], "disease": [{"text": "cytogenetic abnormalities", "start": 38, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Treatment with 9-cis retinoic acid significantly inhibited Wnt5b expression in myometrial SMC but not in their leiomyoma counterparts.", "output": {"entities": {"gene": [{"text": "Wnt5b", "start": 59, "end": 64}], "disease": [{"text": "leiomyoma", "start": 111, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Wnt5b", "start": 59, "end": 64}, "tail": {"text": "leiomyoma", "start": 111, "end": 120}}]}}, "schema": []}
{"input": "our proof-of-concept study suggests investigation of CCN1 as a novel, endogenous \" parent compound \" for chemotaxis modulation and of cyclic RGD peptides as a class of partially CCN1-mimetic drugs with immediate potential for clinical evaluation in cardiac diseases associated with chronic pathogenic inflammation.", "output": {"entities": {"gene": [{"text": "CCN1", "start": 53, "end": 57}], "disease": [{"text": "cardiac diseases", "start": 249, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "This study documents for the first time that psychosine-induced cell death is mediated via the sPLA2 signaling pathway and that inhibitors of sPLA2 may hold a therapeutic potential for protection against oligodendrocyte cell death and resulting demyelination in Krabbe disease.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 95, "end": 100}], "disease": [{"text": "demyelination", "start": 245, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "A positive correlation was found between BMPR2 transcripts and hyperandrogenism in FF of PCOS patients.", "output": {"entities": {"gene": [{"text": "BMPR2", "start": 41, "end": 46}], "disease": [{"text": "hyperandrogenism", "start": 63, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BMPR2", "start": 41, "end": 46}, "tail": {"text": "hyperandrogenism", "start": 63, "end": 79}}]}}, "schema": []}
{"input": "The successful construction of recombinant human BIMS adenovirus (Ad-BIMS) was demonstrated by Western blot.", "output": {"entities": {"gene": [{"text": "BIMS", "start": 49, "end": 53}], "disease": [{"text": "adenovirus", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Here, we focus on the molecular interactions between these NOD proteins and other intracellular molecules to elucidate the mechanisms by which NOD1 and NOD2 contribute to the maintenance of mucosal homeostasis and the induction of mucosal inflammation.", "output": {"entities": {"gene": [{"text": "NOD1", "start": 143, "end": 147}], "disease": [{"text": "mucosal inflammation", "start": 231, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Proliferative LN (PLN) (N = 12), nonproliferative lupus nephritis (NPLN) (N = 5), AIN (N = 6), CAN (N = 4), and normal kidneys (N = 3) were studied.", "output": {"entities": {"gene": [{"text": "PLN", "start": 18, "end": 21}], "disease": [{"text": "lupus nephritis", "start": 50, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "No obvious correlation was observed between the position or type of the RSK2 mutations and the severity or particular clinical features of CLS.", "output": {"entities": {"gene": [{"text": "RSK2", "start": 72, "end": 76}], "disease": [{"text": "CLS", "start": 139, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RSK2", "start": 72, "end": 76}, "tail": {"text": "CLS", "start": 139, "end": 142}}]}}, "schema": []}
{"input": "Taken together with our present study, this suggests that HO-1 induction in human hepatocytes would be a good marker of the occurrence of metabolism-based drug-induced hepatotoxicity and IDT caused by the formation of electrophilic reactive metabolites.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 58, "end": 62}], "disease": [{"text": "drug-induced hepatotoxicity", "start": 155, "end": 182}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HO-1", "start": 58, "end": 62}, "tail": {"text": "drug-induced hepatotoxicity", "start": 155, "end": 182}}]}}, "schema": []}
{"input": "Together, our findings showed that BRCA1 suppressed TWIST and EMT, inhibited LSC dedifferentiation, and repressed expansion of basal stem cells and basal-like tumors.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 52, "end": 57}], "disease": [{"text": "dedifferentiation", "start": 81, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "54 variants of the HGSNAT gene have been identified in MPS IIIC patients thus far, 22 of which are missense mutations.", "output": {"entities": {"gene": [{"text": "HGSNAT", "start": 19, "end": 25}], "disease": [{"text": "MPS IIIC", "start": 55, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGSNAT", "start": 19, "end": 25}, "tail": {"text": "MPS IIIC", "start": 55, "end": 63}}]}}, "schema": []}
{"input": "TRPV1 and TRPA1 channels transduce pain and itch, whereas TRPM8 transduces cold.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 0, "end": 5}], "disease": [{"text": "cold", "start": 75, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "1alpha, 25 (OH) 2D (3) induced the expression of E-cadherin and other adhesion proteins (occludin, Zonula occludens [ZO]-1, ZO-2, vinculin) and promoted the translocation of beta-catenin, plakoglobin, and ZO-1 from the nucleus to the plasma membrane.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 49, "end": 59}], "disease": [{"text": "translocation", "start": 157, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient.", "output": {"entities": {"gene": [{"text": "IFT140", "start": 72, "end": 78}], "disease": [{"text": "Jeune syndrome", "start": 84, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT140", "start": 72, "end": 78}, "tail": {"text": "Jeune syndrome", "start": 84, "end": 98}}]}}, "schema": []}
{"input": "In STZ rats, atorvastatin feeding (20 mg/kg/d, 7 weeks), normalized vascular dysfunction as analyzed by isometric tension studies, levels of circulating endothelial progenitor cells (FACS-analysis), superoxide formation (assessed by lucigenin-enhanced chemiluminescence and dihydroethidium staining), vascular levels of the phosphorylated vasodilator-stimulated phosphoprotein (P-VASP), tyrosine nitration of the prostacyclin synthase, expression of GTPCH-I, dihydrofolate reductase and eNOS, translocation of regulatory NADPH oxidase subunits rac1, p47phox and p67phox (assessed by Western blot) and vascular tetrahydrobiopterin levels as measured by HPLC.", "output": {"entities": {"gene": [{"text": "prostacyclin synthase", "start": 413, "end": 434}], "disease": [{"text": "translocation", "start": 493, "end": 506}]}, "relations": {}}, "schema": []}
{"input": "Linkage of bipolar disorder and recurrent depression to the DRD3 gene was tested using a series of autosomal dominant and recessive models with varying penetrance levels.", "output": {"entities": {"gene": [{"text": "DRD3", "start": 60, "end": 64}], "disease": [{"text": "recurrent depression", "start": 32, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DRD3", "start": 60, "end": 64}, "tail": {"text": "recurrent depression", "start": 32, "end": 52}}]}}, "schema": []}
{"input": "U266 cells treated with 20 microg/ml cerulenin for 12 and 24 h also showed early sign of apoptosis with 56. 9% and 69. 3% Annexin V (+)/PI (-) cells, and late apoptotic and necrotic cells with 3. 2% and 17. 6% Annexin V (+)/PI (+) cells.", "output": {"entities": {"gene": [{"text": "Annexin V", "start": 122, "end": 131}], "disease": [{"text": "necrotic", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Thus, we aimed to study the expression of Ago2 in 363 primary GC, 8 corresponding lymph node metastases and 10 non-neoplastic surrounding gastric epithelium tissues by immunohistochemical analyses and tissue microarray.", "output": {"entities": {"gene": [{"text": "Ago2", "start": 42, "end": 46}], "disease": [{"text": "non-neoplastic", "start": 111, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "All interventions led to significantly reduced apelin serum concentrations which significantly correlate with improved insulin sensitivity, independently of changes in BMI.", "output": {"entities": {"gene": [{"text": "apelin", "start": 47, "end": 53}], "disease": [{"text": "insulin sensitivity", "start": 119, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the increase of the MIF mRNA + cells was highly correlated with the severity of the disease (number of MIF mRNA + cells/mm (2), mild: 2834 +/-382, moderate: 3569 +/-123, severe: 3881 +/-118, P < 0. 01).", "output": {"entities": {"gene": [{"text": "MIF", "start": 30, "end": 33}], "disease": [{"text": "mild", "start": 138, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In the present study we investigated whether T cell secreted VEGF and inflammatory cytokines were modulated by cigarette smoke and by a hypoxic microenvironment.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 61, "end": 65}], "disease": [{"text": "hypoxic", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Data on adverse events and DAT1 3' genotypes were combined from two, double-blind, placebo-controlled, crossover studies of MPH conducted in child psychiatric outpatient clinics in Montreal and Washington, D. C.", "output": {"entities": {"gene": [{"text": "DAT1", "start": 27, "end": 31}], "disease": [{"text": "blind", "start": 76, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.", "output": {"entities": {"gene": [{"text": "FGF10", "start": 117, "end": 122}], "disease": [{"text": "LADD syndrome", "start": 26, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGF10", "start": 117, "end": 122}, "tail": {"text": "LADD syndrome", "start": 26, "end": 39}}]}}, "schema": []}
{"input": "In addition, we demonstrate that while stress increased NMDA NR2B-mediated synaptic transmission, known to be implicated in depression, Reelin overexpression significantly reduced it.", "output": {"entities": {"gene": [{"text": "Reelin", "start": 136, "end": 142}], "disease": [{"text": "depression", "start": 124, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Reelin", "start": 136, "end": 142}, "tail": {"text": "depression", "start": 124, "end": 134}}]}}, "schema": []}
{"input": "In this report, we show that HER receptor tyrosine kinases 1 through 4 are expressed in the CWR-R1 recurrent prostate cancer cell line; their stimulation by epidermal growth factor (EGF) and heregulin activates downstream signaling, including mitogen-activated protein kinase and phosphatidylinositol-3 kinase and Akt pathways.", "output": {"entities": {"gene": [{"text": "EGF", "start": 182, "end": 185}], "disease": [{"text": "recurrent prostate cancer", "start": 99, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "These sites correlated with genomic DNA breakpoints in both AML1 and ETO, thus implicating them in the de novo 8; 21 translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 60, "end": 64}], "disease": [{"text": "translocation", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Phobic disorder was associated with a lower prolactin response to both inhibitory and stimulatory challenges.", "output": {"entities": {"gene": [{"text": "prolactin", "start": 44, "end": 53}], "disease": [{"text": "Phobic disorder", "start": 0, "end": 15}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prolactin", "start": 44, "end": 53}, "tail": {"text": "Phobic disorder", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "We determined and compared their blood pressure, brachioradial arterial stiffness as determined by pulse wave velocity (PWV), fasting total cholesterol, serum MBL level, and MBL genotype.", "output": {"entities": {"gene": [{"text": "MBL", "start": 159, "end": 162}], "disease": [{"text": "arterial stiffness", "start": 63, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Haploinsufficiency for ceramide synthase 2 (CerS2), the dominant isoform in the liver that preferentially makes very-long-chain (C22/C24/C24: 1) ceramides, led to compensatory increases in long-chain C16-ceramides and conferred susceptibility to diet-induced steatohepatitis and insulin resistance.", "output": {"entities": {"gene": [{"text": "CerS2", "start": 44, "end": 49}], "disease": [{"text": "insulin resistance", "start": 279, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Moreover, sIL-15 levels did not correlate with age (r = 0. 033, p = 0. 685), and they did not display a clear circadian rhythm in healthy donors, with the median values for IL-15 close to zero at each time tested.", "output": {"entities": {"gene": [{"text": "IL-15", "start": 11, "end": 16}], "disease": [{"text": "circadian rhythm", "start": 110, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we examined in detail the kinetics of (Ca2 +, Mg2 +) ATPase activity in erythrocyte plasma membranes from 11 patients with FBH from 7 families, 5 patients with untreated primary hyperparathyroidism, and equal numbers of age-and sex-matched normal subjects.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 50, "end": 53}], "disease": [{"text": "primary hyperparathyroidism", "start": 181, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "In addition, amyrin octanoate reduced thermal and mechanical hyperalgesia induced by bradykinin and phorbol myristate acetate in rats, without affecting similar responses caused by prostaglandin E (2).", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 85, "end": 95}], "disease": [{"text": "mechanical hyperalgesia", "start": 50, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 85, "end": 95}, "tail": {"text": "mechanical hyperalgesia", "start": 50, "end": 73}}]}}, "schema": []}
{"input": "We found that restoration of ACE2 protein suppressed cell proliferation, motility and increased the sensitivity to hypoxia induced injury in BxPC3 and SW1990 cell lines.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 29, "end": 33}], "disease": [{"text": "hypoxia", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In addition, coadministration of JTP-4819 and substance P, arginine-vasopressin or thyrotropin-releasing hormone (at doses at which each drug alone did not prolong the retention time) improved the retention time of rats with scopolamine-induced amnesia.", "output": {"entities": {"gene": [{"text": "arginine-vasopressin", "start": 59, "end": 79}], "disease": [{"text": "amnesia", "start": 245, "end": 252}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "arginine-vasopressin", "start": 59, "end": 79}, "tail": {"text": "amnesia", "start": 245, "end": 252}}]}}, "schema": []}
{"input": "The expression of ANP and BNP in the ventricles of hearts with cardiac amyloidosis, which is hemodynamically similar to restrictive cardiomyopathy, is not yet known.", "output": {"entities": {"gene": [{"text": "BNP", "start": 26, "end": 29}], "disease": [{"text": "restrictive cardiomyopathy", "start": 120, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We showed that ZAP70 (+) cells had better adhesion/migration capacities and only ZAP70 (+) patient cells responded to microenvironment contact by CXCR4 downregulation.", "output": {"entities": {"gene": [{"text": "ZAP70", "start": 15, "end": 20}], "disease": [{"text": "adhesion", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that HBc may prevent hepatocytes from TRAIL-induced apoptosis by blocking DR5 expression, which in turn contributes to the development of chronic hepatitis and HCC.", "output": {"entities": {"gene": [{"text": "DR5", "start": 97, "end": 100}], "disease": [{"text": "chronic hepatitis", "start": 161, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "This review will highlight the major findings and recent advances in the study of ClC-3 Cl (-) channels in the cardiovascular system and discuss their important roles in cardiac and vascular remodeling during hypertension, myocardial hypertrophy, ischemia/reperfusion, and heart failure.", "output": {"entities": {"gene": [{"text": "ClC-3", "start": 82, "end": 87}], "disease": [{"text": "vascular remodeling", "start": 182, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "However, among patients with hyperamylasemia, those with CFTR or SPINK-1 mutations had 648 +/-216 U/l amylase levels compared with 232 +/-28 U/l for those without (P = 0. 025).", "output": {"entities": {"gene": [{"text": "CFTR", "start": 57, "end": 61}], "disease": [{"text": "hyperamylasemia", "start": 29, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We found that prostate tumors from the Low-T mutant mice share a similar gene expression profile as androgen-independent prostate tumors from these mutant mice, which includes the deregulated expression of several genes that are up-regulated in human hormone-refractory prostate cancer, such as Vav3 and Runx1.", "output": {"entities": {"gene": [{"text": "Vav3", "start": 295, "end": 299}], "disease": [{"text": "prostate cancer", "start": 270, "end": 285}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Vav3", "start": 295, "end": 299}, "tail": {"text": "prostate cancer", "start": 270, "end": 285}}]}}, "schema": []}
{"input": "This highly proliferative, Sox2/Olig2 coexpressing dysplastic cell type is > 10-fold enriched in the hyperplastic polyps compared with control SVZ and most likely causes the polyp formation.", "output": {"entities": {"gene": [{"text": "Olig2", "start": 32, "end": 37}], "disease": [{"text": "polyp", "start": 114, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We performed RT-PCR to detect the expression of hTERT mRNA in 78 patients with HCC, 10 with liver cirrhosis (LC), 12 with chronic hepatitis (CH), and 34 healthy individuals without any liver diseases and cancers, and statistically analyzed the association with clinical parameters which include age, sex, etiology, Child classification, underlying liver disease, biochemical data, alpha-fetoprotein (alpha-AFP) number and size of tumor, and histological differentiation of HCC regarding HCC patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 79, "end": 82}], "disease": [{"text": "liver disease", "start": 185, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Hematopoietic potential and retroviral transduction of CD34 + Thy-1 + peripheral blood stem cells from asymptomatic human immunodeficiency virus type-1-infected individuals mobilized with granulocyte colony-stimulating factor.", "output": {"entities": {"gene": [{"text": "CD34", "start": 55, "end": 59}], "disease": [{"text": "asymptomatic", "start": 103, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In present study, we investigated whether BANCR was involved in the development of gastric cancer cells via regulation of NF-κB1.", "output": {"entities": {"gene": [{"text": "BANCR", "start": 42, "end": 47}], "disease": [{"text": "gastric cancer", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "These findings support the existence of a role for BRM in the pathophysiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "BRM", "start": 51, "end": 54}], "disease": [{"text": "schizophrenia", "start": 81, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRM", "start": 51, "end": 54}, "tail": {"text": "schizophrenia", "start": 81, "end": 94}}]}}, "schema": []}
{"input": "This study was designed to investigate the relationship of the melanocortin-1 receptor (MC1R) genotype to CMM risk, controlled for pigmentation phenotype.", "output": {"entities": {"gene": [{"text": "CMM", "start": 106, "end": 109}], "disease": [{"text": "pigmentation", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Preoperative blood samples were obtained from 44 esophageal cancer patients and were subjected to CEA-specific reverse transcriptase-polymerase chain reaction (RT-PCR) assay and methylation-specific polymerase chain reaction (MSP) assay for p16, E-cadherin and RARbeta genes.", "output": {"entities": {"gene": [{"text": "MSP", "start": 226, "end": 229}], "disease": [{"text": "esophageal cancer", "start": 49, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We determined the genetic prevalence of Wilson' s disease in the United Kingdom by sequencing the entire coding region and adjacent splice sites of ATP7B in 1000 control subjects.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 148, "end": 153}], "disease": [{"text": "Wilson' s disease", "start": 40, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 148, "end": 153}, "tail": {"text": "Wilson' s disease", "start": 40, "end": 57}}]}}, "schema": []}
{"input": "In addition, experiments with AID-deficient mice clearly showed that AID is required not only for the c-myc/IgH translocation but also for the malignant progression of translocation-bearing lymphoma precursor cells, probably by introducing additional genetic hits.", "output": {"entities": {"gene": [{"text": "AID", "start": 30, "end": 33}], "disease": [{"text": "translocation", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "AML1/Runx1, originally identified as a gene located at the breakpoint of the t (8; 21) translocation, encodes one of the two subunits forming a heterodimeric transcription factor.", "output": {"entities": {"gene": [{"text": "Runx1", "start": 5, "end": 10}], "disease": [{"text": "translocation", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "First-degree relatives with a PROS1 gene defect had a 5. 0-fold higher risk of thrombosis (95% confidence interval, 1.", "output": {"entities": {"gene": [{"text": "PROS1", "start": 30, "end": 35}], "disease": [{"text": "thrombosis", "start": 79, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PROS1", "start": 30, "end": 35}, "tail": {"text": "thrombosis", "start": 79, "end": 89}}]}}, "schema": []}
{"input": "XPA and XPD and others can cause childhood XP neurological disease with widespread neuronal loss, axonal sensorimotor neuropathy, and dwarfing.", "output": {"entities": {"gene": [{"text": "XPA", "start": 0, "end": 3}], "disease": [{"text": "axonal sensorimotor neuropathy", "start": 98, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.", "output": {"entities": {"gene": [{"text": "SHANK3", "start": 103, "end": 109}], "disease": [{"text": "22q13 deletion syndrome", "start": 75, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SHANK3", "start": 103, "end": 109}, "tail": {"text": "22q13 deletion syndrome", "start": 75, "end": 98}}]}}, "schema": []}
{"input": "Expression and differential response to haloperidol treatment of Cyclon/CCDC86 mRNA in schizophrenia patients.", "output": {"entities": {"gene": [{"text": "CCDC86", "start": 72, "end": 78}], "disease": [{"text": "schizophrenia", "start": 87, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCDC86", "start": 72, "end": 78}, "tail": {"text": "schizophrenia", "start": 87, "end": 100}}]}}, "schema": []}
{"input": "This study provides further evidence for a role for ALDH1A1 in alcohol consumption behaviour, including problem drinking and possibly alcohol dependence, in our Finnish population.", "output": {"entities": {"gene": [{"text": "ALDH1A1", "start": 52, "end": 59}], "disease": [{"text": "problem drinking", "start": 104, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALDH1A1", "start": 52, "end": 59}, "tail": {"text": "problem drinking", "start": 104, "end": 120}}]}}, "schema": []}
{"input": "Dietary administration of 600 ppm SFN and 1. 0% DBM also reduced colon tumor numbers by 80% (P = 0. 016) and 60% (P = 0. 103), respectively, whereas the combination of SFN and DBM treatment blocked the colon tumor development (P = 0. 002).", "output": {"entities": {"gene": [{"text": "SFN", "start": 34, "end": 37}], "disease": [{"text": "colon tumor", "start": 65, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that low expression of miR-221/222 sensitized glioma cells to temozolomide (TMZ); in addition, ectopic expression of PUMA by pcDNA-PUMA had a similar effect.", "output": {"entities": {"gene": [{"text": "PUMA", "start": 136, "end": 140}], "disease": [{"text": "glioma", "start": 65, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Replication-defective adenovirus containing the human LPL cDNA driven by a cytomegalovirus promoter (Ad. hLPL) efficiently transduced CHO-ldlA7 cells in vitro, inducing in these cells the production of bioactive LPL (73 mU/ml).", "output": {"entities": {"gene": [{"text": "LPL", "start": 54, "end": 57}], "disease": [{"text": "adenovirus", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Most CCSKs display few genomic aberrations, and no general underlying mechanism for tumor initiation has yet been identified, although a YWHAE-NUTM2B/NUTM2E fusion gene has been observed in a minority of cases.", "output": {"entities": {"gene": [{"text": "NUTM2B", "start": 143, "end": 149}], "disease": [{"text": "tumor initiation", "start": 84, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Here we found that GAT1 (-/-) mice showed a lower level of depression-and anxiety-like behaviors in comparison to wild-type mice.", "output": {"entities": {"gene": [{"text": "GAT1", "start": 19, "end": 23}], "disease": [{"text": "depression", "start": 59, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAT1", "start": 19, "end": 23}, "tail": {"text": "depression", "start": 59, "end": 69}}]}}, "schema": []}
{"input": "Based on these two cases and a review of the literature it is concluded that the development of t-APL with the balanced translocation t (15; 17) is related to previous treatment with cytostatic drugs targeting DNA topoisomerase II and that additional abnormalities of the long arms of chromosomes no.", "output": {"entities": {"gene": [{"text": "DNA topoisomerase II", "start": 210, "end": 230}], "disease": [{"text": "arms", "start": 277, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "Thus, glutamine deprivation may have no direct effect on VEGF-dependent angiogenesis, compared to hypoxia or to glucose deprivation, and may instead be detrimental to cancer progression by antagonizing ischemia-induced stresses.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 57, "end": 61}], "disease": [{"text": "hypoxia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In the analyses of the GDM-related phenotype, only the risk allele of KCNQ1 rs2237895 was significantly associated with a high-level insulin sensitivity oral glucose tolerance test among patients with GDM (P = 0. 0003, 0. 004, and 0. 05 for codominant, dominant, and recessive models, respectively).", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 70, "end": 75}], "disease": [{"text": "insulin sensitivity", "start": 133, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Total regression of brain metastases in non-small cell lung cancer patients harboring EGFR mutations treated with gefitinib without radiotherapy: two case reports.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 86, "end": 90}], "disease": [{"text": "regression", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Seven FIHP families were ascertained and venous blood samples obtained from 35 members (17 affected and 18 unaffected) for DNA sequence analysis of the MEN1 gene.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 152, "end": 156}], "disease": [{"text": "FIHP", "start": 6, "end": 10}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 152, "end": 156}, "tail": {"text": "FIHP", "start": 6, "end": 10}}]}}, "schema": []}
{"input": "In a patient with orthostatic intolerance and her relatives, we measured postural blood pressure, heart rate, plasma catecholamines, and systemic norepinephrine spillover and clearance, and we sequenced the norepinephrine-transporter gene and evaluated its function.", "output": {"entities": {"gene": [{"text": "norepinephrine-transporter", "start": 207, "end": 233}], "disease": [{"text": "orthostatic intolerance", "start": 18, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "norepinephrine-transporter", "start": 207, "end": 233}, "tail": {"text": "orthostatic intolerance", "start": 18, "end": 41}}]}}, "schema": []}
{"input": "The level of circulating VEGF mRNA, however, did not significantly correlate with tumor size, cellular differentiation, capsule, daughter nodules, vascular permeation, necrosis and hemorrhage of tumors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 25, "end": 29}], "disease": [{"text": "necrosis", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we examined different components of an important pathway in angiogenesis: hypoxia-inducible factors (HIFs); HIF regulators von Hippel-Lindau (VHL) and prolyl 3-hydroxylase (PHD3); and HIF target genes vascular endothelial growth factor A (VEGF-A) and vascular endothelial growth factor receptor 2 (VEGFR-2).", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 250, "end": 256}], "disease": [{"text": "hypoxia", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that mis-targeting of RAG proteins to cRSSs within TEL and AML1 translocation regions might be responsible for the t (12; 21) (p13; q22) chromosomal translocation not bearing Ig/TCR regions.", "output": {"entities": {"gene": [{"text": "AML1", "start": 81, "end": 85}], "disease": [{"text": "chromosomal translocation", "start": 159, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Additionally, we used FISH to check chromosomal aberration in the purified ECs and found that some of the ECs had only one fusion signal for the green IGH probe and the red BCL2 probe in contrast to typical t (14; 18) (q32; q21) translocation with two fusion signals.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 173, "end": 177}], "disease": [{"text": "translocation", "start": 229, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "The translocation results in the fusion of two genes, collagen type I alpha 1 (COL1A1) and platelet-derived growth factor B-chain (PDGFB).", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 131, "end": 136}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Glycosaminoglycans (GAGs) are key players in tissue repair and fibrosis, and we investigated whether PF is associated with changes in the expression and structure of GAGs as well as in the expression of β1, 3-glucuronosyltransferase I (GlcAT-I), a rate-limiting enzyme in GAG synthesis.", "output": {"entities": {"gene": [{"text": "GlcAT-I", "start": 236, "end": 243}], "disease": [{"text": "fibrosis", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "This study paves the way for an alternative gene therapy treatment of status epilepticus, and provides the rationale for studies of AAV-TREK-M' s effect on spontaneous seizures in chronic models of temporal lobe epilepsy.", "output": {"entities": {"gene": [{"text": "TREK", "start": 136, "end": 140}], "disease": [{"text": "temporal lobe epilepsy", "start": 198, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "The results strongly implicated corneal HIF-1α as a component of the inflammatory and neovascular cascade initiated by hypoxic and further suggested that HIF-1α was a proximal regulator of VEGF expression in this model.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 189, "end": 193}], "disease": [{"text": "hypoxic", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In the striatum of the knock-in mice, DARPP-32 phosphorylation at Thr 34, which is important for the regulation of depression-related behaviour, is increased.", "output": {"entities": {"gene": [{"text": "DARPP-32", "start": 38, "end": 46}], "disease": [{"text": "depression", "start": 115, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DARPP-32", "start": 38, "end": 46}, "tail": {"text": "depression", "start": 115, "end": 125}}]}}, "schema": []}
{"input": "Immunohistochemistry also revealed increased cytoplasmic GRP78 expression with progression along the normal tissue-adenoma-carcinoma sequence.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 57, "end": 62}], "disease": [{"text": "carcinoma", "start": 123, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Persons carrying the GR-9beta haplotype without 22/23EK (n = 53) revealed no significant differences in their body mass index, waist to hip ratio, fat spectrum, and insulin sensitivity or in their cortisol response to dexamethasone and levels of C-reactive protein, compared with noncarriers (n = 113).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 246, "end": 264}], "disease": [{"text": "waist to hip ratio", "start": 127, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined.", "output": {"entities": {"gene": [{"text": "APRT", "start": 20, "end": 24}], "disease": [{"text": "APRT deficiency", "start": 55, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APRT", "start": 20, "end": 24}, "tail": {"text": "APRT deficiency", "start": 55, "end": 70}}]}}, "schema": []}
{"input": "Results were analyzed in relation to ERG abnormalities created in anesthetized non-human primates by intravitreal application of glutamate analogues that selectively suppress retinal on-or off-pathway bipolar cell activity.", "output": {"entities": {"gene": [{"text": "ERG", "start": 37, "end": 40}], "disease": [{"text": "abnormalities", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "On the human transcriptome, we observed reduced AGO binding and functional mRNA de-repression of miR-122 targets during virus infection.", "output": {"entities": {"gene": [{"text": "AGO", "start": 48, "end": 51}], "disease": [{"text": "virus infection", "start": 120, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Anti-elafin antibody showed a strong reaction with the subcorneal region of the epidermis in patients with Behçet' s syndrome, Sweet' s syndrome, pyoderma gangrenosum, cutaneous allergic vasculitis and acute bacterial infection (cellulitis), but showed no reaction in skin from patients with dermal lymphocyte infiltration such as is seen in chronic prurigo and discoid lupus erythematosus.", "output": {"entities": {"gene": [{"text": "elafin", "start": 5, "end": 11}], "disease": [{"text": "discoid lupus erythematosus", "start": 362, "end": 389}]}, "relations": {}}, "schema": []}
{"input": "Astrocytoma cells that were transfected to express the dominant inhibitory mutant H-Ras (N17) demonstrated a reduction in VEGF secretion under both normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 122, "end": 126}], "disease": [{"text": "hypoxic", "start": 161, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Recently, breakpoint region genes for the 8; 21 translocation in chromosome 8 and 21 have been isolated, 48-50 and have been named AML1 and ETO, respectively.", "output": {"entities": {"gene": [{"text": "AML1", "start": 131, "end": 135}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "This protection was characterized by decreased lung pathological abnormalities and the fibrotic gene expression of Type I collagen, Type III collagen, α-smooth muscle actin, and connective tissue growth factor.", "output": {"entities": {"gene": [{"text": "connective tissue growth factor", "start": 178, "end": 209}], "disease": [{"text": "abnormalities", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We aimed to examine personality traits of remitted patients with schizophrenia as compared to symptomatic patients and healthy controls and to investigate whether the COMT Val158Met polymorphism influences their personality.", "output": {"entities": {"gene": [{"text": "COMT", "start": 167, "end": 171}], "disease": [{"text": "personality traits", "start": 20, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The variant genotypes of LPL + 495GG and PvuII CC were associated with a significantly increased risk of childhood obesity [adjusted odds ratio (OR) = 2. 39, 95% CI = 1. 09-5. 23 for + 495 GG; adjusted OR = 2. 00, 95% CI = 1. 04-3. 83 for PvuII CC], compared with their wild-type genotypes, respectively.", "output": {"entities": {"gene": [{"text": "LPL", "start": 25, "end": 28}], "disease": [{"text": "childhood obesity", "start": 105, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "It is now shown that a novel t (6; 14) (p21; q32) translocation is present in 1 of 30 MM cell lines and that this cell line uniquely overexpresses cyclin D3.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 147, "end": 156}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "However, infiltration of leukocytes and MPO activity in the lungs and pancreas during acute pancreatitis was decreased in S100A9-deficient mice and associated with significantly lower serum amylase and lipase activities as well as reduced intrapancreatic TAP-levels.", "output": {"entities": {"gene": [{"text": "TAP", "start": 255, "end": 258}], "disease": [{"text": "acute pancreatitis", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In addition some thyroid tumors exhibit inappropriate activation of phospholipase C (PLC), a signaling pathway that has been implicated in the growth and dedifferentiation of thyroid cells.", "output": {"entities": {"gene": [{"text": "PLC", "start": 85, "end": 88}], "disease": [{"text": "dedifferentiation", "start": 154, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In osteosarcoma tissues, immunohistochemical results revealed that heparanase expression had a close correlation with that of HIF-1α and they had a strong relation with presence of pulmonary metastasis (P < 0. 05). Heparanase-positive samples had higher microvessel density (MVD) than heparanase-negative samples.", "output": {"entities": {"gene": [{"text": "MVD", "start": 275, "end": 278}], "disease": [{"text": "pulmonary metastasis", "start": 181, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The goal of this study was to compare hepatic histopathologic features and hepatic iron concentration (HIC) among patients with phenotypic hemochromatosis and different HFE genotypes.", "output": {"entities": {"gene": [{"text": "HIC", "start": 103, "end": 106}], "disease": [{"text": "hemochromatosis", "start": 139, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Tumours were investigated by means of immunohistochemistry, RT-PCR (EWSR1-FLI1, EWSR1-ERG and EWSR1-FEV transcripts), FISH analysis (EWSR1 break-apart and specific EWSR1-FEV translocation) and spectral karyotyping (SKY).", "output": {"entities": {"gene": [{"text": "SKY", "start": 215, "end": 218}], "disease": [{"text": "translocation", "start": 174, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The autosomal-dominant Noonan syndrome (MIM 163950) is characterized by short stature, typical facial dysmorphology and heart defects.", "output": {"entities": {"gene": [{"text": "MIM", "start": 40, "end": 43}], "disease": [{"text": "heart defects", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we conducted an immunohistochemical evaluation of PLAG1 and a reverse transcription-polymerase chain reaction (RT-PCR) assay to detect fusion gene transcripts associated with pleomorphic adenoma, including the CTNNB1-PLAG1, LIFR-PLAG1, CHCHD7-PLAG1, TCEA1-PLAG1, HMGA2-FHIT, HMGA2-NFIB, and HMGA2-WIF1 fusion transcripts; this was performed using formalin-fixed paraffin-embedded tumor tissue specimens of 16 cutaneous mixed tumors including one sample with an adenocarcinoma component.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 291, "end": 295}], "disease": [{"text": "pleomorphic adenoma", "start": 197, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "We studied the genotypic distribution of GSTM1, GSTT1, and GSTP1 polymorphisms between mild malaria (N = 107) and severe malarial anemia (N = 50) in Tanzanian children.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 59, "end": 64}], "disease": [{"text": "mild", "start": 87, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Based on fractionation and immunohistochemical analyses, an upstream kinase for JNK1, SAPK/ERK kinase 1 (SEK1), is constantly present in both the nucleus and cytoplasm throughout ischemia and reperfusion, whereas an upstream kinase for mitogen-activated protein kinase, MAPK/ERK kinase 1, remains in the cytosol.", "output": {"entities": {"gene": [{"text": "SEK1", "start": 105, "end": 109}], "disease": [{"text": "ischemia", "start": 179, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "We have developed a LPH (liposome-polycation-hyaluronic acid) nanoparticle formulation modified with tumor-targeting single-chain antibody fragment (scFv) for systemic delivery of small interfering RNA (siRNA) and microRNA (miRNA) into experimental lung metastasis of murine B16F10 melanoma.", "output": {"entities": {"gene": [{"text": "LPH", "start": 20, "end": 23}], "disease": [{"text": "lung metastasis", "start": 249, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Indeed, transgenic mice with low activity of ALDH2 exhibited an age-dependent neurodegeneration accompanying memory loss.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 45, "end": 50}], "disease": [{"text": "neurodegeneration", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Intrathecal injection of CXCL13 was sufficient to induce pain hypersensitivity and astrocyte activation via CXCR5 and ERK.", "output": {"entities": {"gene": [{"text": "ERK", "start": 118, "end": 121}], "disease": [{"text": "hypersensitivity", "start": 62, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "VEGF shRNA interference combined with radiotherapy promotes the radiosensitivity of tumors via improvement of the hypoxic microenvironment.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "RABL6A, a novel RAB-like protein, controls centrosome amplification and chromosome instability in primary fibroblasts.", "output": {"entities": {"gene": [{"text": "RAB", "start": 0, "end": 3}], "disease": [{"text": "chromosome instability", "start": 72, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.", "output": {"entities": {"gene": [{"text": "phenylalanine hydroxylase", "start": 39, "end": 64}], "disease": [{"text": "phenylketonuria", "start": 73, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "phenylalanine hydroxylase", "start": 39, "end": 64}, "tail": {"text": "phenylketonuria", "start": 73, "end": 88}}]}}, "schema": []}
{"input": "Expression of Th1 and Th2 cytokine-associated transcription factors, T-bet and GATA-3, in peripheral blood mononuclear cells and skin lesions of patients with psoriasis vulgaris.", "output": {"entities": {"gene": [{"text": "T-bet", "start": 69, "end": 74}], "disease": [{"text": "skin lesions", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Thus, semaphorin 3C/3D signaling is an evolutionarily conserved regulator of ENS development whose dys-regulation is a cause of enteric aganglionosis.", "output": {"entities": {"gene": [{"text": "semaphorin 3C", "start": 6, "end": 19}], "disease": [{"text": "aganglionosis", "start": 136, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "semaphorin 3C", "start": 6, "end": 19}, "tail": {"text": "aganglionosis", "start": 136, "end": 149}}]}}, "schema": []}
{"input": "Molecular genetic analysis of the P-450C18 gene is three patients from three different families affected with CMO II deficiency has indicated that a point mutation of CGG----TGG (181Arg----Trp) in exon 3 and one of GTG----GCG (386Val----Ala) in exon 7 occur exclusively in the gene of the patients.", "output": {"entities": {"gene": [{"text": "P-450C18", "start": 34, "end": 42}], "disease": [{"text": "CMO II deficiency", "start": 110, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "P-450C18", "start": 34, "end": 42}, "tail": {"text": "CMO II deficiency", "start": 110, "end": 127}}]}}, "schema": []}
{"input": "Finally, the effects on VEGF gene expression, HIF-1alpha translocation and cell cycle arrest were determined.", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 46, "end": 56}], "disease": [{"text": "translocation", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "During end stage renal disease (ESRD) inflammatory pathways are activated which may lead to malnutrition inflammation syndrome (MIS).", "output": {"entities": {"gene": [{"text": "MIS", "start": 128, "end": 131}], "disease": [{"text": "malnutrition", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The methylation status of APC, THBS1, MGMT, hMLH1 and GSTP1, as determined by methylation specific PCR (MSP), and microsatellite instability (MSI) using three mononucleotide markers were assessed in 40 colorectal adenomas and 36 adenocarcinomas.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 54, "end": 59}], "disease": [{"text": "microsatellite instability", "start": 114, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "We analyzed genetic factors, including 14 single nucleotide polymorphisms (SNPs), environmental risk factors (body mass index, age at menarche, pregnancy, age at first birth, breastfeeding, family history of breast cancer, age at menopause, use of hormone replacement therapy, alcohol intake, and smoking), serum hormones and growth factors (estradiol, testosterone, prolactin, insulin-like growth factor 1 [IGF1] and IGF binding protein 3 [IGFBP3]), and mammographic density in 913 women with breast cancer and 278 disease-free controls.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 441, "end": 447}], "disease": [{"text": "body mass index", "start": 110, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "TRPM8: from cold to cancer, peppermint to pain.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 0, "end": 5}], "disease": [{"text": "cold", "start": 12, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "BNP is elevated in other cardiac disease states such as the acute coronary syndromes, diastolic dysfunction, atrial fibrillation (AF), amyloidosis, restrictive cardiomyopathy (RCM), and valvular heart disease.", "output": {"entities": {"gene": [{"text": "BNP", "start": 0, "end": 3}], "disease": [{"text": "restrictive cardiomyopathy", "start": 148, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "To determine the effect of human preterm labor on SIRT6 expression, human fetal membranes were collected from women at preterm at the time of Cesarean section (no labor; n = 9) and from women after spontaneous labor and delivery (n = 9).", "output": {"entities": {"gene": [{"text": "SIRT6", "start": 50, "end": 55}], "disease": [{"text": "preterm labor", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "We performed a genome-wide association study of 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t (12; 21) (p13; q22)-the most common chromosomal translocation observed in childhood ALL-which leads to an ETV6-RUNX1 gene fusion.", "output": {"entities": {"gene": [{"text": "RUNX1 gene", "start": 271, "end": 281}], "disease": [{"text": "chromosomal translocation", "start": 196, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Expression patterns of the hypoxia-related genes osteopontin, CA9, erythropoietin, VEGF and HIF-1alpha in human glioma in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 83, "end": 87}], "disease": [{"text": "hypoxia", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Analyses of HLA-DQ alleles in recurrent spontaneous abortion (RSA) couples.", "output": {"entities": {"gene": [{"text": "HLA-DQ", "start": 12, "end": 18}], "disease": [{"text": "recurrent spontaneous abortion", "start": 30, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We assessed and compared the HO-1 mRNA expression and apoptosis in the small intestinal mucosa of rats after hemorrhagic shock and resuscitation using the SYBR Green I fluorescence quantitative reverse transcriptase polymerase chain reaction, fluorescein-iso-thiocyanate-annexin V/propidium iodide double staining, and flow cytometry.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 271, "end": 280}], "disease": [{"text": "hemorrhagic shock", "start": 109, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "A region on human chromosome 11, from 11p11. 2-p13, has been shown to suppress metastasis in rat prostatic carcinoma cells.", "output": {"entities": {"gene": [{"text": "p13", "start": 47, "end": 50}], "disease": [{"text": "prostatic carcinoma", "start": 97, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "VEGF mRNA was not induced by hypoxia in mutant cells that do not express the HIF-1beta (ARNT) subunit.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 20, "end": 26}], "disease": [{"text": "permanent neonatal diabetes mellitus", "start": 50, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ11", "start": 20, "end": 26}, "tail": {"text": "permanent neonatal diabetes mellitus", "start": 50, "end": 86}}]}}, "schema": []}
{"input": "An association was noted between adult height and the mean in vitro expression value corresponding to an individual' s GH1 promoter haplotype combination (p = 0. 028) although only 3. 3% of the variance of adult height was found to be explicable by reference to this parameter.", "output": {"entities": {"gene": [{"text": "GH1", "start": 119, "end": 122}], "disease": [{"text": "height", "start": 39, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We genotyped CYP1A1 * 2A, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a hospital based case-control study including 206 infertile men and 230 healthy fertile (control) subjects.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 13, "end": 19}], "disease": [{"text": "infertile", "start": 169, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "The present system could be useful to study the acute induction mechanism (s) of ADM-resistance, which could be relevant to clinical resistance in patients.", "output": {"entities": {"gene": [{"text": "ADM", "start": 81, "end": 84}], "disease": [{"text": "clinical resistance", "start": 124, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Heterologous expression of STIM1 p. R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p. P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca (2 +)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation.", "output": {"entities": {"gene": [{"text": "STIM1", "start": 27, "end": 32}], "disease": [{"text": "Stormorken syndrome", "start": 231, "end": 250}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STIM1", "start": 27, "end": 32}, "tail": {"text": "Stormorken syndrome", "start": 231, "end": 250}}]}}, "schema": []}
{"input": "Multivariable Cox regression models revealed a significant better relapse-free (RFS) and overall survival for the GSTP1 (*) 105 Val (P = 0. 003 and 0. 03, respectively), whereas GSTT1 and GSTM1 genotypes had no significant impact.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 178, "end": 183}], "disease": [{"text": "regression", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.", "output": {"entities": {"gene": [{"text": "ARL3", "start": 0, "end": 4}], "disease": [{"text": "Joubert Syndrome", "start": 21, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARL3", "start": 0, "end": 4}, "tail": {"text": "Joubert Syndrome", "start": 21, "end": 37}}]}}, "schema": []}
{"input": "In western populations, dominant MYOC mutation remains a common cause of primary open-angle juvenile glaucoma and infrequently can be implicated in congenital/infantile or adult-onset forms; identified families should undergo genetic counseling.", "output": {"entities": {"gene": [{"text": "MYOC", "start": 33, "end": 37}], "disease": [{"text": "juvenile glaucoma", "start": 92, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYOC", "start": 33, "end": 37}, "tail": {"text": "juvenile glaucoma", "start": 92, "end": 109}}]}}, "schema": []}
{"input": "Disruption of Pak1 in ApoE (-/-) mice results in reduced plaque burden, significantly attenuates circulating IL-6 and MCP-1 levels, limits the expression of adhesion molecules and diminishes the macrophage content in the aortic root of ApoE (-/-) mice.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 109, "end": 113}], "disease": [{"text": "plaque", "start": 57, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Dual role of apoptosis-associated speck-like protein containing a CARD (ASC) in tumorigenesis of human melanoma.", "output": {"entities": {"gene": [{"text": "ASC", "start": 72, "end": 75}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "CC-homozygotes at SNP rs7566605 in the vicinity of INSIG2 lost less weight in this lifestyle intervention.", "output": {"entities": {"gene": [{"text": "INSIG2", "start": 51, "end": 57}], "disease": [{"text": "weight", "start": 68, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The expressions of both ANF and collagen III, molecular markers of cardiac hypertrophy, were also increased in banded transgenic rats compared with banded control.", "output": {"entities": {"gene": [{"text": "ANF", "start": 24, "end": 27}], "disease": [{"text": "cardiac hypertrophy", "start": 67, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The translocation generated a sterile fusion transcript under the control of the PTK2 promoter, affecting expression of both PTK2 and THOC2 genes.", "output": {"entities": {"gene": [{"text": "PTK2", "start": 81, "end": 85}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "All 28 coding exons of OPA1, intron-exon splice sites, 273 bp 5' to exon 1, and two intronic regions with putative function were screened in 94 apparently unrelated white patients of European origin with adOA by single-strand conformational polymorphism (SSCP)-heteroduplex analysis and direct sequencing.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 23, "end": 27}], "disease": [{"text": "adOA", "start": 204, "end": 208}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 23, "end": 27}, "tail": {"text": "adOA", "start": 204, "end": 208}}]}}, "schema": []}
{"input": "However, in normal glucose tolerant subjects, plasma chemerin levels were significantly associated with body mass index, circulating triglycerides, and blood pressure.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 53, "end": 61}], "disease": [{"text": "body mass index", "start": 104, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations.", "output": {"entities": {"gene": [{"text": "LPL", "start": 9, "end": 12}], "disease": [{"text": "familial chylomicronemia", "start": 62, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 9, "end": 12}, "tail": {"text": "familial chylomicronemia", "start": 62, "end": 86}}]}}, "schema": []}
{"input": "As SAMP1/Yit mice were derived from AKR mice, we examined AKR mice and determined that they too have an increased occurrence of gastritis, although they do not develop ileitis.", "output": {"entities": {"gene": [{"text": "SAMP1", "start": 3, "end": 8}], "disease": [{"text": "gastritis", "start": 128, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "A common deleted region (CDR) in both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) affects the long arm of chromosome 20 and has been predicted to harbor a tumor suppressor gene.", "output": {"entities": {"gene": [{"text": "CDR", "start": 25, "end": 28}], "disease": [{"text": "myelodysplastic syndromes", "start": 38, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Here we report a new chromosomal translocation, t (4; 21) (q31; q22) that disrupts the AML1 gene in a 12-year-old boy with newly diagnosed T-cell acute lymphoblastic leukemia (ALL).", "output": {"entities": {"gene": [{"text": "AML1", "start": 87, "end": 91}], "disease": [{"text": "chromosomal translocation", "start": 21, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "This increase was accompanied by the activation of caspases, cytochrome c release, Bcl2-associated X protein (Bax) translocation, myeloid cell leukemia-1 (Mcl-1) downregulation, Bcl-2-associated death promoter (Bad) dephosphorylation, Akt inactivation, and RhoA/Rho-associated coiled-coil containing protein kinase 1/phosphatase and tensin homolog (RhoA/ROCK1/PTEN) activation.", "output": {"entities": {"gene": [{"text": "Mcl-1", "start": 155, "end": 160}], "disease": [{"text": "translocation", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Then, we examined the expression of HIF-1alpha mRNA and protein, the secretion of VEGF in MiaPaCa2 cells under hypoxic condition with Real-time PCR, Western Blot, ELISA, respectively.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 82, "end": 86}], "disease": [{"text": "hypoxic", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "A single nucleotide polymorphism fine mapping study of chromosome 1q42. 1 reveals the vulnerability genes for schizophrenia, GNPAT and DISC1: Association with impairment of sustained attention.", "output": {"entities": {"gene": [{"text": "GNPAT", "start": 125, "end": 130}], "disease": [{"text": "schizophrenia", "start": 110, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNPAT", "start": 125, "end": 130}, "tail": {"text": "schizophrenia", "start": 110, "end": 123}}]}}, "schema": []}
{"input": "In conclusion, the present study suggests that the inhibition of pilocarpine-induced seizures may be mediated by stimulation of 5-HT1A and by blockade of 5-HT1B receptors, located probably on the cholinergic terminals.", "output": {"entities": {"gene": [{"text": "5-HT1B", "start": 154, "end": 160}], "disease": [{"text": "seizures", "start": 85, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT1B", "start": 154, "end": 160}, "tail": {"text": "seizures", "start": 85, "end": 93}}]}}, "schema": []}
{"input": "Experimental autoimmune arthritis resembling human rheumatoid arthritis (RA) can be induced in susceptible strains of mice following immunization with type II collagen (CIA).", "output": {"entities": {"gene": [{"text": "CIA", "start": 169, "end": 172}], "disease": [{"text": "autoimmune arthritis", "start": 13, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Using combinations of fluorescent reporter transgenes, fluorescence microscopy, and flow cytometry, we identified the local production of dual oxidase 1 (Duox1)-derived H₂O₂ by Tnfa-and Tnfr2-deficient keratinocytes as a trigger for the activation of the master inflammation transcription factor NF-κB, which then promotes the induction of genes encoding pro-inflammatory molecules.", "output": {"entities": {"gene": [{"text": "Tnfr2", "start": 186, "end": 191}], "disease": [{"text": "inflammation", "start": 262, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the expression pattern of SMN and FUS in fibroblasts cannot serve as a biomarker for sporadic ALS.", "output": {"entities": {"gene": [{"text": "FUS", "start": 49, "end": 52}], "disease": [{"text": "sporadic", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The cannabinoid type 2 receptor (CB2) has previously been implicated as a regulator of tumor growth, bone remodeling, and bone pain.", "output": {"entities": {"gene": [{"text": "CB2", "start": 33, "end": 36}], "disease": [{"text": "bone pain", "start": 122, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The subependymoma tissue microarrays demonstrated tumor expression of p53, MDM2, HIF-1α, topoisomerase II-β, p-STAT3, and nucleolin, but not EGFRvIII, EphA2, IL-13RA2, CMV, CTLA-4, FoxP3, PD-1, PD-L1, EGFR, PDGF-α, PDGF-β, PDGFR-α, PDGFR-β, PTEN, IGFBP2, PI3K, MDM4, IDH1, mTOR, or Jak2.", "output": {"entities": {"gene": [{"text": "PD-1", "start": 188, "end": 192}], "disease": [{"text": "subependymoma", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "LF prevented body weight loss and significantly reduced the elevated plasma H2O2 and increased FRAP values.", "output": {"entities": {"gene": [{"text": "FRAP", "start": 95, "end": 99}], "disease": [{"text": "body weight", "start": 13, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3 epsilon in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.", "output": {"entities": {"gene": [{"text": "LIS1", "start": 222, "end": 226}], "disease": [{"text": "MDS", "start": 310, "end": 313}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LIS1", "start": 222, "end": 226}, "tail": {"text": "MDS", "start": 310, "end": 313}}]}}, "schema": []}
{"input": "In this study, we have evaluated the effect of p38SJ, a novel member of the DING family of proteins, derived from Hypericum perforatum calluses, on the growth of malignant glioma cell lines, T98G and U-87MG by focusing on cell cycle and signaling pathways controlled by phosphorylation of various regulatory proteins including ERK.", "output": {"entities": {"gene": [{"text": "DING", "start": 76, "end": 80}], "disease": [{"text": "calluses", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The presence of the T allele of the g. 4235T > C polymorphism and the A allele of the c.-31A > G polymorphism of the SMUG1 gene (odds ratio, 2. 17 and 2. 18, respectively) was associated with an increased risk of AMD severity, expressed by the comparison of the frequencies of genotypes in the group of patients with wet AMD versus those with dry AMD.", "output": {"entities": {"gene": [{"text": "SMUG1 gene", "start": 117, "end": 127}], "disease": [{"text": "dry", "start": 343, "end": 346}]}, "relations": {}}, "schema": []}
{"input": "Activation of ataxia-telangiectasia mutated (ATM) protein, a sensor to radiation-induced DNA damage, was elevated with increased interaction with NF-kappaB subunits p65 and p50.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 146, "end": 155}], "disease": [{"text": "telangiectasia", "start": 21, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "CNTNAP2, located on 7q35-36. 1, encodes a single-pass transmembrane protein mediating cell-cell interactions in the nervous system.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 0, "end": 7}], "disease": [{"text": "nervous system", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "It seems that mutations of the ATP2A2 gene may also play a role in the pathogenesis of deafness, which seems to be a new phenotypic characteristic of DD patients.", "output": {"entities": {"gene": [{"text": "ATP2A2 gene", "start": 31, "end": 42}], "disease": [{"text": "deafness", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The detection rate of the t (14; 18), the most common translocation in B-cell lymphomas, which results in rearrangement of the immunoglobulin heavy chain (IGH) and BCL2 genes, has not been examined in archival cytological smears.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 164, "end": 168}], "disease": [{"text": "translocation", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Considerable evidence indicates that serotonergic mechanisms, particularly the serotonin transporter (5HTT), may mediate central effects of cocaine and may also be involved in impulsive and aggressive behavior.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 79, "end": 100}], "disease": [{"text": "aggressive behavior", "start": 190, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Low frequency of CD94/NKG2A + T lymphocytes in patients with HTLV-1-associated myelopathy/tropical spastic paraparesis, but not in asymptomatic carriers.", "output": {"entities": {"gene": [{"text": "NKG2A", "start": 22, "end": 27}], "disease": [{"text": "asymptomatic", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.", "output": {"entities": {"gene": [{"text": "myelin protein zero", "start": 85, "end": 104}], "disease": [{"text": "Charcot-Marie-Tooth neuropathy type 1B", "start": 25, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myelin protein zero", "start": 85, "end": 104}, "tail": {"text": "Charcot-Marie-Tooth neuropathy type 1B", "start": 25, "end": 63}}]}}, "schema": []}
{"input": "We have proposed that immunization with homologous antigen is more appropriate for detailed investigation of autoimmunity in EAG.", "output": {"entities": {"gene": [{"text": "EAG", "start": 125, "end": 128}], "disease": [{"text": "autoimmunity", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Significant associations were detected between ESR1 SNPs and the metabolic syndrome (P = 0. 005 to P = 0. 029), type 2 diabetes (P = 0. 001), insulin sensitivity (P = 0. 0005 to P = 0. 023), fasting insulin (P = 0. 022 to P = 0. 033), triglycerides (P = 0. 021), LDL (P = 0. 016 to P = 0. 034), cholesterol (P = 0. 046), BMI (P = 0. 016 to P = 0. 035), waist circumference (P = 0. 012 to P = 0. 023), and subcutaneous adipose tissue area (P = 0. 016).", "output": {"entities": {"gene": [{"text": "ESR1", "start": 47, "end": 51}], "disease": [{"text": "insulin sensitivity", "start": 142, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Addition of an antiserum against HRG to the mammary epithelial tumor cell line TM-6 reduced ErbB-3 Tyr-phosphorylation.", "output": {"entities": {"gene": [{"text": "HRG", "start": 33, "end": 36}], "disease": [{"text": "epithelial tumor", "start": 52, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Few studies have been conducted on GCH1, and future studies are needed to clarify its potential role in the progression of schizophrenia.", "output": {"entities": {"gene": [{"text": "GCH1", "start": 35, "end": 39}], "disease": [{"text": "schizophrenia", "start": 123, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GCH1", "start": 35, "end": 39}, "tail": {"text": "schizophrenia", "start": 123, "end": 136}}]}}, "schema": []}
{"input": "Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in the initiation and maintenance of epithelial adherens junctions and is mutated in the cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000).", "output": {"entities": {"gene": [{"text": "Poliovirus Receptor", "start": 0, "end": 19}], "disease": [{"text": "ectodermal dysplasia 1", "start": 202, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "To delineate the apoptotic pathways involved, the expression of the apoptosis suppressor oncogene bcl-2 was evaluated in different NHL-B cells with and without the t (14; 18) chromosomal translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 98, "end": 103}], "disease": [{"text": "chromosomal translocation", "start": 175, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Human EC are classified into two major groups: Type I displays endometroid histology, is hormone-dependent, and characterized by frequent microsatellite instability and PTEN, K-RAS, and CTNNB1 (beta-Catenin) mutations; Type II shows non-endometrioid histology, is hormone-unrelated, displays recurrent TP53 mutation, CDKN2A (P16) inactivation, over-expression of ERBB2 (Her2/neu), and reduced CDH1 (Cadherin 1 or E-Cadherin) expression.", "output": {"entities": {"gene": [{"text": "E-Cadherin", "start": 413, "end": 423}], "disease": [{"text": "microsatellite instability", "start": 138, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.", "output": {"entities": {"gene": [{"text": "myelin protein zero", "start": 17, "end": 36}], "disease": [{"text": "Charcot-Marie-Tooth disease type 1B", "start": 58, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myelin protein zero", "start": 17, "end": 36}, "tail": {"text": "Charcot-Marie-Tooth disease type 1B", "start": 58, "end": 93}}]}}, "schema": []}
{"input": "The expression of PINCH was examined by immumohistochemistry in 141 samples of primary colorectal adenocarcinoma and 92 normal samples of colorectal mucosa.", "output": {"entities": {"gene": [{"text": "PINCH", "start": 18, "end": 23}], "disease": [{"text": "colorectal adenocarcinoma", "start": 87, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We carried out a hospital-based case-control study in a Caucasian Portuguese population (287 cases and 547 controls) to estimate the susceptibility to non-familial breast cancer associated with some polymorphisms in mismatch repair genes (MSH3, MSH4, MSH6, MLH1, MLH3, PMS1 and MUTYH).", "output": {"entities": {"gene": [{"text": "PMS1", "start": 269, "end": 273}], "disease": [{"text": "familial breast cancer", "start": 155, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Mst1 and Mst2 protein kinases restrain intestinal stem cell proliferation and colonic tumorigenesis by inhibition of Yes-associated protein (Yap) overabundance.", "output": {"entities": {"gene": [{"text": "Mst1", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "EZH2 was depleted by retroviral infection in the NPC cells (HK-1, CNE-2, CNE-1 and C666-1).", "output": {"entities": {"gene": [{"text": "HK-1", "start": 60, "end": 64}], "disease": [{"text": "retroviral infection", "start": 21, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "This involves the release of insulin-like growth factor (IGF)-binding protein 5 (IGFBP5) from apoptotic cells, which increases the adhesion of epithelial cells on mesenchymal but not epithelial extracellular matrix (ECM), and involves the direct interaction of IGFBP5 and α2β1 integrins.", "output": {"entities": {"gene": [{"text": "IGFBP5", "start": 81, "end": 87}], "disease": [{"text": "adhesion", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Phosphorylation level of four specific salivary phospho-peptides, namely statherin, histatin 1 (both, p & lt; 0. 0001) and acidic proline-rich proteins (both entire and truncated isoforms) (p & lt; 0. 005) was found significantly lower in autistic patients, with hypo-phosphorylation of at least one peptide observed in 18 ASD subjects (66%).", "output": {"entities": {"gene": [{"text": "statherin", "start": 73, "end": 82}], "disease": [{"text": "autistic", "start": 239, "end": 247}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "statherin", "start": 73, "end": 82}, "tail": {"text": "autistic", "start": 239, "end": 247}}]}}, "schema": []}
{"input": "In contrast, the expression of full-length 53BP1 in SW48 cells promoted the repair of X-ray-induced DNA damage, evidenced by faster disappearance of X-ray-induced gamma-H2AX foci, a marker for DNA damage, and less residual chromosomal aberrations after X-irradiation.", "output": {"entities": {"gene": [{"text": "53BP1", "start": 43, "end": 48}], "disease": [{"text": "chromosomal aberrations", "start": 223, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "These findings point towards a pathophysiological relevance of changes in DNA methylation of the LEP gene promoter region in alcohol dependence.", "output": {"entities": {"gene": [{"text": "LEP", "start": 97, "end": 100}], "disease": [{"text": "alcohol dependence", "start": 125, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LEP", "start": 97, "end": 100}, "tail": {"text": "alcohol dependence", "start": 125, "end": 143}}]}}, "schema": []}
{"input": "γ-H2AX promotes hepatocellular carcinoma angiogenesis via EGFR/HIF-1α/VEGF pathways under hypoxic condition.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 70, "end": 74}], "disease": [{"text": "hypoxic", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "To compare the copy number intensities of genes associated with GAD67 regulation in the stratum oriens of sectors CA3/2 and CA1 in patients with schizophrenia, patients with bipolar disorder, and healthy controls.", "output": {"entities": {"gene": [{"text": "CA1", "start": 124, "end": 127}], "disease": [{"text": "bipolar disorder", "start": 174, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Ten of the 25 epithelial cells in endometriosis specimens were informative at this locus, and all of these 10 were shown to be monoclonal on the basis of PGK methylation.", "output": {"entities": {"gene": [{"text": "PGK", "start": 154, "end": 157}], "disease": [{"text": "endometriosis", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The FTO gene variant rs9939609 was genotyped in participants attending a weight reduction program that was divided into two phases: a weight reduction period with formula diet (12 weeks) and a weight maintenance phase (40 weeks).", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 4, "end": 12}], "disease": [{"text": "weight reduction", "start": 73, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We have now detected a mutation in RIEG1 which segregates with the disease phenotype in a family with IGDS.", "output": {"entities": {"gene": [{"text": "RIEG1", "start": 35, "end": 40}], "disease": [{"text": "IGDS", "start": 102, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RIEG1", "start": 35, "end": 40}, "tail": {"text": "IGDS", "start": 102, "end": 106}}]}}, "schema": []}
{"input": "Moreover, anxiety levels were increased in IH as compared to normoxia, while no changes in anxiety emerged in EPO-treated mice.", "output": {"entities": {"gene": [{"text": "EPO", "start": 110, "end": 113}], "disease": [{"text": "anxiety", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the effect of antenatal glucocorticoid administration on IGF-I and II expression in nitrofen-induced congenital diaphragmatic hernia (CDH) in rats.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 98, "end": 103}], "disease": [{"text": "congenital diaphragmatic hernia", "start": 142, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "IL-6 was injected in mice before and after middle cerebral artery occlusion.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 0, "end": 4}], "disease": [{"text": "middle cerebral artery occlusion", "start": 43, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 0, "end": 4}, "tail": {"text": "middle cerebral artery occlusion", "start": 43, "end": 75}}]}}, "schema": []}
{"input": "Only some of them result in genetic transcription, and silencing of HLA-B, ERp57, and LMP7 expression through hypermethylation of the promoters or other mechanisms may contribute to mechanisms of tumor escape from immune surveillance in Kazakh esophageal carcinogenesis.", "output": {"entities": {"gene": [{"text": "ERp57", "start": 75, "end": 80}], "disease": [{"text": "esophageal", "start": 244, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Neutrophil alkaline phosphatase (NAP) scores (reference range 20-150) have been reported to be low in isolated cases, but no comparison has been made of the diagnostic value of NAP, TALP, PEA and PLP in hypophosphatasia.", "output": {"entities": {"gene": [{"text": "NAP", "start": 33, "end": 36}], "disease": [{"text": "hypophosphatasia", "start": 203, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Individuals with biallelic TRIP13 or BUB1B mutations have a high risk of embryonal tumors, and here we show that their cells display severe SAC impairment.", "output": {"entities": {"gene": [{"text": "BUB1B", "start": 37, "end": 42}], "disease": [{"text": "embryonal tumors", "start": 73, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BUB1B", "start": 37, "end": 42}, "tail": {"text": "embryonal tumors", "start": 73, "end": 89}}]}}, "schema": []}
{"input": "The autoregulatory feedback loop of microRNA-21/programmed cell death protein 4/activation protein-1 (MiR-21/PDCD4/AP-1) as a driving force for hepatic fibrosis development.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 115, "end": 119}], "disease": [{"text": "hepatic fibrosis", "start": 144, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Using protein microarrays made up of 83 different antibodies, it was possible to monitor alterations of the protein levels in HCC and non-neoplastic liver tissue.", "output": {"entities": {"gene": [{"text": "HCC", "start": 126, "end": 129}], "disease": [{"text": "non-neoplastic", "start": 134, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "These data provide evidence that a common LPL variant (N291S) significantly influences the biochemical phenotype and risk for cardiovascular disease in patients with FH.", "output": {"entities": {"gene": [{"text": "LPL", "start": 42, "end": 45}], "disease": [{"text": "cardiovascular disease", "start": 126, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "In this study, the expression of AR, ERs, and SRCs, and the possible roles of them in astrocytic neoplasm were evaluated and compared to normal brain tissues by nickel-intensified immunohistochemistry with tissue microarrays.", "output": {"entities": {"gene": [{"text": "AR", "start": 33, "end": 35}], "disease": [{"text": "astrocytic neoplasm", "start": 86, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AR", "start": 33, "end": 35}, "tail": {"text": "astrocytic neoplasm", "start": 86, "end": 105}}]}}, "schema": []}
{"input": "The vulnerability of cerebellar neurons to alcohol toxicity declined in parallel with decreasing levels of Math1 and Cyclin D2, markers of immature granule cells.", "output": {"entities": {"gene": [{"text": "Cyclin D2", "start": 117, "end": 126}], "disease": [{"text": "alcohol toxicity", "start": 43, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cyclin D2", "start": 117, "end": 126}, "tail": {"text": "alcohol toxicity", "start": 43, "end": 59}}]}}, "schema": []}
{"input": "For example, the recent discoveries that NCC is activated by angiotensin II but inhibited by dietary potassium shed light on how the kidney handles sodium during hypovolemia (high angiotensin II) and hyperkalemia.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 61, "end": 75}], "disease": [{"text": "hypovolemia", "start": 162, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, in PENK KO mice, we did not detect anxiety and depression-related behavioral changes after the CMS procedure, and even measured a decreased hormonal stress response.", "output": {"entities": {"gene": [{"text": "PENK", "start": 17, "end": 21}], "disease": [{"text": "depression", "start": 61, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PENK", "start": 17, "end": 21}, "tail": {"text": "depression", "start": 61, "end": 71}}]}}, "schema": []}
{"input": "Platelet/endothelial cell adhesion molecule immunohistochemistry, the recessed oxygen microelectrode, color and power Doppler ultrasound (DUS), and diffuse light spectroscopy (DLS) were used to measure tumor oxygen status using vascular endothelial growth factor (VEGF)-transfected hypervascular human melanoma xenografts and their nontransfected counterparts as a model.", "output": {"entities": {"gene": [{"text": "endothelial cell adhesion molecule", "start": 9, "end": 43}], "disease": [{"text": "melanoma", "start": 302, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "We failed to provide evidence of an association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity or related quantitative metabolic phenotypes in large-scale studies of Danes.", "output": {"entities": {"gene": [{"text": "NOS1AP", "start": 75, "end": 81}], "disease": [{"text": "obesity", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "This family was found to be completely linked to markers mapped to 16q24. 3 and thereby proposed to be allelic to the distichiasis-lymphedema syndrome (DL, MIM 153400), although pterygium colli, congenital heart disease, or facial dysmorphism were not features found here.", "output": {"entities": {"gene": [{"text": "MIM", "start": 156, "end": 159}], "disease": [{"text": "pterygium colli", "start": 178, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "CSF3R truncation mutations induce overexpression and ligand hypersensitivity of the receptor, likely because of the removal of motifs necessary for endocytosis and degradation.", "output": {"entities": {"gene": [{"text": "CSF3R", "start": 0, "end": 5}], "disease": [{"text": "hypersensitivity", "start": 60, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In this study we sought to determine whether hypoxia detected by (18) F-fluoromisonidazole (FMISO) PET accurately reflects the expression of HIF-1α and VEGF in the tumour and can be used as a biomarker of antiangiogenic treatment and as a prognostic factor in newly diagnosed and recurrent malignant gliomas.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 152, "end": 156}], "disease": [{"text": "hypoxia", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Finally, using a stem cell proliferation assay and tumour xenotransplantation assay in non-obese diabetic/severe combined immunodeficiency mice, we show that HAGE promotes MMICs-dependent tumour initiation and tumour growth by preventing the anti-proliferative effects of interferon-α (IFNα).", "output": {"entities": {"gene": [{"text": "HAGE", "start": 158, "end": 162}], "disease": [{"text": "obese", "start": 91, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "While upregulation of FGFR-1 has been previously shown in MDD; abnormalities in GC-1, GRINA, and NRP-1 have not been reported.", "output": {"entities": {"gene": [{"text": "FGFR-1", "start": 22, "end": 28}], "disease": [{"text": "MDD", "start": 58, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR-1", "start": 22, "end": 28}, "tail": {"text": "MDD", "start": 58, "end": 61}}]}}, "schema": []}
{"input": "Most patients with hereditary hemochromatosis are homozygous for C282Y in the HFE gene in populations of Celtic origin, but the genetic cause of this disease is unknown in Japan because of its rarity.", "output": {"entities": {"gene": [{"text": "HFE", "start": 78, "end": 81}], "disease": [{"text": "hemochromatosis", "start": 30, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HFE", "start": 78, "end": 81}, "tail": {"text": "hemochromatosis", "start": 30, "end": 45}}]}}, "schema": []}
{"input": "Defective MMR is characterized by microsatellite instability (MSI) and loss of MMR protein expression in the tumor tissue.", "output": {"entities": {"gene": [{"text": "MMR", "start": 10, "end": 13}], "disease": [{"text": "microsatellite instability", "start": 34, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Both groups did not differ in age, body weight and height, blood pressure, heart rate, plasma catecholamine levels, plasma renin activity (PRA), and lymphocyte beta 2-adrenoceptor density.", "output": {"entities": {"gene": [{"text": "PRA", "start": 139, "end": 142}], "disease": [{"text": "height", "start": 51, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Dipeptidyl-peptidase IV (EC 3. 4. 14. 5) (DPPIV) is a serine peptidase involved in cell differentiation, adhesion, immune modulation and apoptosis, functions that control neoplastic transformation.", "output": {"entities": {"gene": [{"text": "DPPIV", "start": 42, "end": 47}], "disease": [{"text": "adhesion", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We propose that 9q34. 11 genomic deletions involving ENG, TOR1A, STXBP1, and SPTAN1 are responsible for multisystemic vascular dysplasia, early-onset primary dystonia, epilepsy, and intellectual disability, therefore revealing cis-genetic effects leading to complex phenotypes.", "output": {"entities": {"gene": [{"text": "ENG", "start": 53, "end": 56}], "disease": [{"text": "early-onset primary dystonia", "start": 138, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Colorectal cancer (CRC) that displays high microsatellite instability (MSI-H) can be caused by either germline mutations in mismatch repair (MMR) genes, or non-inherited transcriptional silencing of the MLH1 promoter.", "output": {"entities": {"gene": [{"text": "MMR", "start": 141, "end": 144}], "disease": [{"text": "microsatellite instability", "start": 43, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Maspin inhibited histone deacetylase 1 (HDAC1) and thus increased the acetylation of Ku70 and the dissociation of Bax from Ku70, which led to the induction of apoptosis.", "output": {"entities": {"gene": [{"text": "Maspin", "start": 0, "end": 6}], "disease": [{"text": "dissociation", "start": 98, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The thiazide-sensitive NaCl cotransporter (NCC) plays key roles in renal electrolyte transport and blood pressure maintenance.", "output": {"entities": {"gene": [{"text": "NCC", "start": 43, "end": 46}], "disease": [{"text": "blood pressure", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Here, we provide the first evidence that LPA reduces the cellular abundance of the tumor suppressor p53 in A549 lung carcinoma cells, which express endogenous LPA receptors.", "output": {"entities": {"gene": [{"text": "LPA", "start": 41, "end": 44}], "disease": [{"text": "lung carcinoma", "start": 112, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We conclude from these data that the mechanisms for the induction of cold allodynia in the patients with cold injury are independent of TRPM8 or TRPA1 and differ therefore from neuropathic pain patients.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 136, "end": 141}], "disease": [{"text": "cold", "start": 69, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "CRF also increased anxiety/fear-like behaviors in the forced swim and predator odor tests.", "output": {"entities": {"gene": [{"text": "CRF", "start": 0, "end": 3}], "disease": [{"text": "anxiety", "start": 19, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF", "start": 0, "end": 3}, "tail": {"text": "anxiety", "start": 19, "end": 26}}]}}, "schema": []}
{"input": "Using primers specific for chromosomes 14 and 18, translocation of the proto-oncogene bcl-2 was detected by polymerase chain reaction (PCR) in all five lymphomas positive by Southern blot analysis.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 86, "end": 91}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "During chemotherapy-induced alopecia, follicular dystrophy was promoted in K14/Bcl-2 mice.", "output": {"entities": {"gene": [{"text": "K14", "start": 75, "end": 78}], "disease": [{"text": "alopecia", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) (q32; q21) translocation is the most commonly observed chromosomal translocation in non-Hodgkin' s lymphoma (NHL), resulting in constitutive Bcl-2 expression and apoptosis inhibition.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 156, "end": 161}], "disease": [{"text": "chromosomal translocation", "start": 70, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The cytokine interferon-gamma (IFN-gamma) is another potential therapeutic agent for TSC.", "output": {"entities": {"gene": [{"text": "interferon-gamma", "start": 13, "end": 29}], "disease": [{"text": "TSC", "start": 85, "end": 88}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interferon-gamma", "start": 13, "end": 29}, "tail": {"text": "TSC", "start": 85, "end": 88}}]}}, "schema": []}
{"input": "After the resting metabolic rate was adjusted, the decreases in waist circumference, waist-to-hip ratio, and C-reactive protein remained significant between the two groups.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 109, "end": 127}], "disease": [{"text": "waist-to-hip ratio", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Inferring from a correlation observed between the genetic differences in the complement component 5 (C5) and the susceptibility of mouse strains to murine hepatitis virus strain-3 (MHV-3) infections, we propose that excessive complement activation plays a critical role in the development of FH.", "output": {"entities": {"gene": [{"text": "complement component 5", "start": 77, "end": 99}], "disease": [{"text": "infections", "start": 188, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, cells and organisms survive with mutations in ATM or other components required for HRR, such as BRCA1 and BRCA2, but at the cost of genomic instability and cancer predisposition.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 111, "end": 116}], "disease": [{"text": "genomic instability", "start": 147, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of renal MIF expression was paralleled by a significant inhibition of glomerular and interstitial macrophage infiltration (p < 0. 001 versus saline treated), a significant suppression of renal injury (proteinuria and serum creatinine), and a marked reduction in histologic damage (glomerular hypercellularity, crescent formation, and interstitial fibrosis; all p < 0. 01 versus saline treated).", "output": {"entities": {"gene": [{"text": "MIF", "start": 24, "end": 27}], "disease": [{"text": "proteinuria", "start": 216, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The authors analyzed 11 cases of nasopharyngeal angiofibromas from 9 male patients for mutations in the mutation cluster region and allelic loss of the APC gene.", "output": {"entities": {"gene": [{"text": "APC gene", "start": 152, "end": 160}], "disease": [{"text": "angiofibromas", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The high proportion of recurrent somatic DICER1 and KMT2D mutations in this series of sporadic IO-MEPL points to their likely important roles in the molecular pathogenesis of these rare embryonal tumors, and perhaps suggests the existence of distinct molecular variants of IO-MEPL.", "output": {"entities": {"gene": [{"text": "KMT2D", "start": 52, "end": 57}], "disease": [{"text": "sporadic", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Loss of syndecan-1, a cell surface-bound heparan sulfate proteoglycan, has been reported for advanced head and neck carcinomas, and expression of endoglycosidic heparanase, which cleaves heparan sulfate glycosaminoglycans (HS-GAGs), is associated with invasion and metastatic potential of malignant tumors.", "output": {"entities": {"gene": [{"text": "heparan sulfate proteoglycan", "start": 41, "end": 69}], "disease": [{"text": "carcinomas", "start": 116, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Expression status of drug resistance-related molecules including ATP-binding cassette (ABC) and heat-shock protein 27 (HSP27) was confirmed in order to analyse molecular mechanisms of the drug resistance.", "output": {"entities": {"gene": [{"text": "HSP27", "start": 119, "end": 124}], "disease": [{"text": "shock", "start": 101, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "C-propeptide cleavage site mutations in COL1A1 may not only cause' high bone mass OI', but also the clinical features of GDD, specifically irregular sclerotic BMD and fibro-osseous lesions in the skull and jaw.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 40, "end": 46}], "disease": [{"text": "high bone mass", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We observed high VEGF expression in cerebellar hemangioblastomas, which are highly vascular, nonnecrotic and presumably nonhypoxic tumors, and hypothesized that a mechanism other than hypoxia leads to VEGF upregulation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 184, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "In human colon cancer cells, forced overexpression of Eomes enhanced cell viability and protected against staurosporine-induced apoptosis.", "output": {"entities": {"gene": [{"text": "Eome", "start": 54, "end": 58}], "disease": [{"text": "colon cancer", "start": 9, "end": 21}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Eome", "start": 54, "end": 58}, "tail": {"text": "colon cancer", "start": 9, "end": 21}}]}}, "schema": []}
{"input": "This report shows a family with a non-previously identified mutation in the SLC34A3 gene and exhibiting mild and different manifestations of HHRH.", "output": {"entities": {"gene": [{"text": "SLC34A3 gene", "start": 76, "end": 88}], "disease": [{"text": "mild", "start": 104, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.", "output": {"entities": {"gene": [{"text": "TMEM25", "start": 25, "end": 31}], "disease": [{"text": "breast cancer", "start": 141, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TMEM25", "start": 25, "end": 31}, "tail": {"text": "breast cancer", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "We discuss here the prenatal origins of the TEL/AML1 translocation as an initiating mutation, the role of TEL-AML1 in cellular transformation and the molecular mechanisms by which the chimeric protein imposes altered patterns of gene expression.", "output": {"entities": {"gene": [{"text": "AML1", "start": 48, "end": 52}], "disease": [{"text": "translocation", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Affinity purification showed N-Ras to be the predominant activated isoform of Ras in two independent neurofibrosarcoma cell lines from NF1 patients (lines ST88-14 and NF90-8).", "output": {"entities": {"gene": [{"text": "N-Ras", "start": 29, "end": 34}], "disease": [{"text": "neurofibrosarcoma", "start": 101, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "N-Ras", "start": 29, "end": 34}, "tail": {"text": "neurofibrosarcoma", "start": 101, "end": 118}}]}}, "schema": []}
{"input": "IGF2/IGF1R signaling was blocked by recombinant adenovirus-mediated IGF1R small hairpin RNA (shIGF1R), which was used to transfect into human osteosarcoma (OS) MG-63 cells.", "output": {"entities": {"gene": [{"text": "IGF1R", "start": 5, "end": 10}], "disease": [{"text": "adenovirus", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "These studies represent the first successful application of PGD for beta-thalassaemia and sickle cell anaemia in Italy.", "output": {"entities": {"gene": [{"text": "PGD", "start": 60, "end": 63}], "disease": [{"text": "sickle cell anaemia", "start": 90, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "However, the PE-like symptoms were significantly alleviated after the PS/PC-injected mice were treated with annexin V, AND, or heparin.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 108, "end": 117}], "disease": [{"text": "PE", "start": 13, "end": 15}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "annexin V", "start": 108, "end": 117}, "tail": {"text": "PE", "start": 13, "end": 15}}]}}, "schema": []}
{"input": "In the present study, we chose highly metastatic human gastric carcinoma SGC-7901 cells, which express all of the ERM proteins as a model to examine the functional roles of these proteins in tumor metastasis.", "output": {"entities": {"gene": [{"text": "ERM", "start": 114, "end": 117}], "disease": [{"text": "gastric carcinoma", "start": 55, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that changes of plasma levels of anti-NPY autoAbs are relevant to altered mood, while changes of their affinity may participate in altered appetite and body weight in patients with depressive disorder.", "output": {"entities": {"gene": [{"text": "NPY", "start": 57, "end": 60}], "disease": [{"text": "body weight", "start": 171, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Appropriate lifestyle decisions and, eventually, perhaps, specific SEDL therapies may ameliorate the prognosis of premature osteoarthritis and the need for hip arthroplasty.", "output": {"entities": {"gene": [{"text": "SEDL", "start": 67, "end": 71}], "disease": [{"text": "premature osteoarthritis", "start": 114, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Defects of insulin action manifested as abdominal obesity, impaired NEFA suppression, and fasting hyperinsulinemia are present in Sikh MI patients and their asymptomatic, nondiabetic, first-degree relatives.", "output": {"entities": {"gene": [{"text": "NEFA", "start": 68, "end": 72}], "disease": [{"text": "abdominal obesity", "start": 40, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.", "output": {"entities": {"gene": [{"text": "UTR", "start": 42, "end": 45}], "disease": [{"text": "melanoma", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of the JAK/STAT signalling pathway reduces brain oedema, decreases the expression of CD40 and exerts neuroprotective effects after TBI.", "output": {"entities": {"gene": [{"text": "CD40", "start": 96, "end": 100}], "disease": [{"text": "brain oedema", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In addition, the genotype associated with high serum levels of TGFβ may be associated with an increase in plasma viral load.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 63, "end": 67}], "disease": [{"text": "viral load", "start": 113, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The interpretation of the association between testosterone and IR seems to require consideration of the AR CAG repeat polymorphism.", "output": {"entities": {"gene": [{"text": "AR", "start": 104, "end": 106}], "disease": [{"text": "IR", "start": 63, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AR", "start": 104, "end": 106}, "tail": {"text": "IR", "start": 63, "end": 65}}]}}, "schema": []}
{"input": "In the present study, the genomic structure of the nephrin gene was analyzed, and 35 NPHS1 patients were screened for the presence of mutations in the gene.", "output": {"entities": {"gene": [{"text": "nephrin", "start": 51, "end": 58}], "disease": [{"text": "NPHS1", "start": 85, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "nephrin", "start": 51, "end": 58}, "tail": {"text": "NPHS1", "start": 85, "end": 90}}]}}, "schema": []}
{"input": "The HS-GGT concentrations were quantitatively analyzed in the sera of 156 HCC patients and others with liver diseases or extrahepatic tumors.", "output": {"entities": {"gene": [{"text": "HCC", "start": 74, "end": 77}], "disease": [{"text": "liver diseases", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Since the highest expression levels of HDAC genes were recorded in ET, in PMF and in the entire CMPN group, their down-regulation by HDAC inhibitors might be associated with decreased disease activity, including reduction of splenomegaly.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 39, "end": 43}], "disease": [{"text": "splenomegaly", "start": 225, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "In vitro mutagenesis revealed that the Ser172--& gt; Cys mutation caused a mutant LPL protein that had residual activity higher than that seen in all eight other missense mutations in patients with LPL deficiency identified in our laboratory.", "output": {"entities": {"gene": [{"text": "LPL", "start": 82, "end": 85}], "disease": [{"text": "LPL deficiency", "start": 198, "end": 212}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 82, "end": 85}, "tail": {"text": "LPL deficiency", "start": 198, "end": 212}}]}}, "schema": []}
{"input": "Breakpoints affecting the IGK locus were detected in 7 cases including all 4 variant Burkitt' s translocations t (2; 8) (p12; q24) and a variant BCL2-associated translocation t (2; 18) (p12; q21).", "output": {"entities": {"gene": [{"text": "BCL2", "start": 145, "end": 149}], "disease": [{"text": "translocation", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Each gene (DLC-1, PCDHGB7, CYP27B1, EFNA5, CCND1 and RARbeta2) was frequently hypermethylated in these NHLs (87, 78, 61, 53, 40 and 38%, respectively), but not in benign follicular hyperplasia.", "output": {"entities": {"gene": [{"text": "CCND1", "start": 43, "end": 48}], "disease": [{"text": "follicular hyperplasia", "start": 170, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.", "output": {"entities": {"gene": [{"text": "UBIAD1", "start": 92, "end": 98}], "disease": [{"text": "Schnyder corneal dystrophy", "start": 118, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBIAD1", "start": 92, "end": 98}, "tail": {"text": "Schnyder corneal dystrophy", "start": 118, "end": 144}}]}}, "schema": []}
{"input": "The expression of Camsap1 mRNA and protein is higher in cancer tissues compared to that in normal tissues.", "output": {"entities": {"gene": [{"text": "Camsap1", "start": 18, "end": 25}], "disease": [{"text": "cancer", "start": 56, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Although highest levels of Pak1 expression and activation are detected in the developing nervous system, much remains undiscovered concerning its function in neurones.", "output": {"entities": {"gene": [{"text": "Pak1", "start": 27, "end": 31}], "disease": [{"text": "nervous system", "start": 89, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "As an effort to develop new chemotherapy for prostate cancers, in this study, we tested the effects of tetra-bromo-cinnamic acid (TBCA), a newly synthetic CK2-selective CK2 inhibitor, on androgen receptor (AR) transactivation, cell proliferation, and viability in multiple prostate cancer cell lines.", "output": {"entities": {"gene": [{"text": "TBCA", "start": 130, "end": 134}], "disease": [{"text": "prostate cancer", "start": 45, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The val allele of the Val158 Met polymorphism of the COMT gene was associated with increased schizotypal personality trait scores in individuals exposed to higher levels of self-reported childhood trauma (p < 0. 05).", "output": {"entities": {"gene": [{"text": "COMT gene", "start": 53, "end": 62}], "disease": [{"text": "personality trait", "start": 105, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Cells were subjected to simulated ischemia 24 hours after liposomal HSP72 transfer or thermal stress, and the effect of HSP72 on nuclear factor-kappaB (NF-kappaB) activation (electrophoretic mobility shift assay and immunohistochemistry), IkappaBalpha production (Western blot), postischemic tumor necrosis factor-alpha (TNF-alpha) production (RT-PCR), and apoptosis (TUNEL assay) were determined.", "output": {"entities": {"gene": [{"text": "HSP72", "start": 68, "end": 73}], "disease": [{"text": "ischemia", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Western blot analyses demonstrated the presence of 78 kDa soluble CD44 protein in the culture supernatant of stably transfected cell lines (CD44 (sol) clones) and were not detected in the empty vector control line (clone m).", "output": {"entities": {"gene": [{"text": "CD44", "start": 66, "end": 70}], "disease": [{"text": "sol", "start": 58, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "However, the complete blood cell (CBC) test gave the following results: mean corpuscular volume (MCV) 79. 8 fL, mean corpuscular hemoglobin (MCH) 19. 9 pg, with a Hb A2 value of 5. 66%, suggesting that the proband also was β-thal minor.", "output": {"entities": {"gene": [{"text": "MCH", "start": 141, "end": 144}], "disease": [{"text": "mean corpuscular volume", "start": 72, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Megakaryoblastic leukemia 1 (MKL1) is a coactivator of serum response factor (SRF) that promotes the expression of genes associated with cell proliferation, motility, adhesion, and differentiation-processes that also involve dynamic cytoskeletal changes in the cell.", "output": {"entities": {"gene": [{"text": "MKL1", "start": 29, "end": 33}], "disease": [{"text": "adhesion", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Our approach may have practical implications in screening strategies for hereditary hemochromatosis, molecular diagnosis, and HFE structure-function relationships.", "output": {"entities": {"gene": [{"text": "HFE", "start": 126, "end": 129}], "disease": [{"text": "hemochromatosis", "start": 84, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HFE", "start": 126, "end": 129}, "tail": {"text": "hemochromatosis", "start": 84, "end": 99}}]}}, "schema": []}
{"input": "Classical galactosemia is an inherited recessive disorder of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT), which is caused by mutations in the GALT gene.", "output": {"entities": {"gene": [{"text": "GALT gene", "start": 202, "end": 211}], "disease": [{"text": "disorder of galactose metabolism", "start": 49, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "HIV and AIDS were not associated with HERV-K10 antibodies, thus, leaving their higher risk of testicular cancer unexplained.", "output": {"entities": {"gene": [{"text": "K10", "start": 43, "end": 46}], "disease": [{"text": "testicular cancer", "start": 94, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In this article, we identify a gene, SLC39A4, located in the candidate region and, in patients with AE, document mutations that likely lead to the disease.", "output": {"entities": {"gene": [{"text": "SLC39A4", "start": 37, "end": 44}], "disease": [{"text": "AE", "start": 100, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC39A4", "start": 37, "end": 44}, "tail": {"text": "AE", "start": 100, "end": 102}}]}}, "schema": []}
{"input": "Among the underexpressed genes discovered in HCC, most were responsible for liver-synthesized proteins (fibrinogen, complement species, amyloid, albumin, haptoglobin, hemopexin and orosomucoid).", "output": {"entities": {"gene": [{"text": "hemopexin", "start": 167, "end": 176}], "disease": [{"text": "fibrinogen", "start": 104, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The expression of CYP enzyme genes and corresponding nuclear receptors was generally decreased in end-stage liver diseases, and significant differences in gene expression were evident between peri-HCC and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 197, "end": 200}], "disease": [{"text": "liver diseases", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Temozolomide exhibited strong synergy with G207 in both MGMT-negative and the MGMT inhibitor O6-benzylguanine-treated MGMT-expressing gliomas (Chou-Talalay combination indices = 0. 005 to 0. 39) and induced GADD34 expression primarily in nonapoptotic MGMT-negative U87 glioma cells (fold difference = 16, 95% confidence interval [CI] = 12. 6 to 20. 4, compared with untreated cells).", "output": {"entities": {"gene": [{"text": "U87", "start": 265, "end": 268}], "disease": [{"text": "glioma", "start": 134, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Immunocytochemistry showed high level expression of CD44 in cells from a high grade prostate tumor, and two androgen-independent, invasive prostatic carcinoma lines, PC-3 and TSU-Pr1.", "output": {"entities": {"gene": [{"text": "Pr1", "start": 179, "end": 182}], "disease": [{"text": "prostatic carcinoma", "start": 139, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "We found that expression of the tumor-promoting cytokines, IL-8 and VEGF, induced by hypoxia (< 1% O2) and deferoxamine (a hypoxia mimetic) was significantly attenuated in PPARδ-deficient HCT116 colon cancer cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 68, "end": 72}], "disease": [{"text": "hypoxia", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in SLC6A4, PAH, GABRB3, and MAOB and modification of psychotic disorder features.", "output": {"entities": {"gene": [{"text": "PAH", "start": 25, "end": 28}], "disease": [{"text": "psychotic disorder", "start": 67, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAH", "start": 25, "end": 28}, "tail": {"text": "psychotic disorder", "start": 67, "end": 85}}]}}, "schema": []}
{"input": "We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes.", "output": {"entities": {"gene": [{"text": "IFT80", "start": 43, "end": 48}], "disease": [{"text": "Beemer-Langer syndrome", "start": 114, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT80", "start": 43, "end": 48}, "tail": {"text": "Beemer-Langer syndrome", "start": 114, "end": 136}}]}}, "schema": []}
{"input": "In the present study, short tandem repeats (STR) polymorphism within the first intron of IFN-gamma gene in connection with HLA-DRB1 * 03 specificities was analysed in 43 sarcoidosis patients, 14 of which presented with Löfgren' s syndrome (LS).", "output": {"entities": {"gene": [{"text": "STR", "start": 44, "end": 47}], "disease": [{"text": "sarcoidosis", "start": 170, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that insulin resistance develops when dysregulation of Pck1 occurs in the triglyceride/fatty acid cycle, which regulates lipid synthesis and transport between adipose tissue and the liver.", "output": {"entities": {"gene": [{"text": "Pck1", "start": 71, "end": 75}], "disease": [{"text": "insulin resistance", "start": 21, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.", "output": {"entities": {"gene": [{"text": "SLC30A10", "start": 13, "end": 21}], "disease": [{"text": "parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease", "start": 28, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC30A10", "start": 13, "end": 21}, "tail": {"text": "parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease", "start": 28, "end": 117}}]}}, "schema": []}
{"input": "Influence of the C242T polymorphism of the p22-phox gene (CYBA) on the interaction between urinary sodium excretion and blood pressure in an urban Brazilian population.", "output": {"entities": {"gene": [{"text": "CYBA", "start": 58, "end": 62}], "disease": [{"text": "blood pressure", "start": 120, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Duchenne muscular dystrophy is an X-linked recessive muscle wasting disease caused by the absence of the muscle cytoskeletal protein, dystrophin.", "output": {"entities": {"gene": [{"text": "cytoskeletal protein", "start": 112, "end": 132}], "disease": [{"text": "muscle wasting", "start": 53, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21. 3 as novel candidate genes for autism.", "output": {"entities": {"gene": [{"text": "REEP3", "start": 53, "end": 58}], "disease": [{"text": "autism", "start": 117, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "REEP3", "start": 53, "end": 58}, "tail": {"text": "autism", "start": 117, "end": 123}}]}}, "schema": []}
{"input": "The numbers of identified RDH5 mutations linked to fundus albipunctatus have increased considerably during recent years.", "output": {"entities": {"gene": [{"text": "RDH5", "start": 26, "end": 30}], "disease": [{"text": "fundus albipunctatus", "start": 51, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDH5", "start": 26, "end": 30}, "tail": {"text": "fundus albipunctatus", "start": 51, "end": 71}}]}}, "schema": []}
{"input": "We used two different approaches, the affected sib-pair (ASP) method and the transmission disequilibrium test (TDT), to investigate the linkage and association between GluR6 and autism.", "output": {"entities": {"gene": [{"text": "ASP", "start": 57, "end": 60}], "disease": [{"text": "autism", "start": 178, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with onset around puberty observed in our two patients.", "output": {"entities": {"gene": [{"text": "RGMA", "start": 80, "end": 84}], "disease": [{"text": "intellectual disability", "start": 42, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to examine the role of 20877G > A (Arg753GIn) in TLR2 gene and 8993C > T (Thr399lle) in TLR4 gene in the etiopathogenesis of postmenopausal osteoporosis in Polish women.", "output": {"entities": {"gene": [{"text": "TLR2 gene", "start": 74, "end": 83}], "disease": [{"text": "postmenopausal osteoporosis", "start": 150, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In contrast, in AdCMVceNOS-transduced rats (n = 8) the hypoxia-induced increase in PAP was significantly attenuated (18 +/-1 to 23 +/-2 mmHg).", "output": {"entities": {"gene": [{"text": "PAP", "start": 83, "end": 86}], "disease": [{"text": "hypoxia", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "To screen out the differentially methylated DNA sequences between gastric primary tumor and metastatic lymph nodes, test the methylation difference of gene PTPRG between primary gastric tumor and metastatic lymph nodes, and test the regulatory function of 5-aza-2'-deoxycytidine which is an agent with suppression on methylation and the level of methylation in gastric cancer cell line.", "output": {"entities": {"gene": [{"text": "PTPRG", "start": 156, "end": 161}], "disease": [{"text": "gastric tumor", "start": 178, "end": 191}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTPRG", "start": 156, "end": 161}, "tail": {"text": "gastric tumor", "start": 178, "end": 191}}]}}, "schema": []}
{"input": "In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1.", "output": {"entities": {"gene": [{"text": "STXBP1", "start": 110, "end": 116}], "disease": [{"text": "atypical Rett syndrome", "start": 47, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STXBP1", "start": 110, "end": 116}, "tail": {"text": "atypical Rett syndrome", "start": 47, "end": 69}}]}}, "schema": []}
{"input": "The FTO gene was examined by a survival analysis of 30 tag SNPs regarding their association with left, interval and right-censored adult overweight.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 4, "end": 12}], "disease": [{"text": "overweight", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Recombinant human Oncostatin M (rhOSM) can induce the transient tyrosine 705 phosphorylation of STAT3 in serum-starved LIFR beta/OSMR beta expressing ovarian carcinoma cell lines, but does not alter cell growth and effects only a modest increase in the apoptotic rate in these cultured cells.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 119, "end": 123}], "disease": [{"text": "ovarian carcinoma", "start": 150, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "We found three SOX10 mutations, one EDNRB and one EDN3 mutations in patients presenting with the classical form of WS4, and two SOX10 mutations in patients displaying chronic intestinal pseudo-obstruction and WS features.", "output": {"entities": {"gene": [{"text": "EDNRB", "start": 36, "end": 41}], "disease": [{"text": "WS4", "start": 115, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDNRB", "start": 36, "end": 41}, "tail": {"text": "WS4", "start": 115, "end": 118}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization analysis of an ILS patient with a de novo balanced translocation, as well as analysis of several other key MDS and ILS deletion patients, localizes the lissencephaly critical region within the LIS1 gene.", "output": {"entities": {"gene": [{"text": "LIS1 gene", "start": 228, "end": 237}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Encapsulation in hollow fibres of xenogeneic cells engineered to secrete IL-4 or IL-13 ameliorates murine collagen-induced arthritis (CIA).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 73, "end": 77}], "disease": [{"text": "collagen-induced arthritis", "start": 106, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-4", "start": 73, "end": 77}, "tail": {"text": "collagen-induced arthritis", "start": 106, "end": 132}}]}}, "schema": []}
{"input": "NCAM1-TTC12-ANKK1-DRD2 variants and smoking motives as intermediate phenotypes for nicotine dependence.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 18, "end": 22}], "disease": [{"text": "smoking", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Although erythropoietin (EPO) alone stimulated neither proliferation nor differentiation of HML/SE cells, it did stimulate proliferation of HML/SE cells and production of hemoglobin in the presence of SCF.", "output": {"entities": {"gene": [{"text": "EPO", "start": 25, "end": 28}], "disease": [{"text": "hemoglobin", "start": 171, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Mice with germ line interruptions in the Ldlr and Apobec1 genes (Ldlr (-/-) Apobec1 (-/-)) simulate metabolic and clinical aspects of hoFH, including atherogenesis on a chow diet.", "output": {"entities": {"gene": [{"text": "Apobec1", "start": 50, "end": 57}], "disease": [{"text": "atherogenesis", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We identified a C7 haplotype associated with protection against developing wet AMD among individuals with homozygous CFH risk allele 402H (p-value 0. 001 for wet AMD versus dry AMD, odds ratio (OR) 0. 16, OR 95% CI 0. 05-0. 49) as well as among individuals with at least one CFH risk allele (p-value 0. 007 for wet AMD versus dry AMD, OR 0. 35, OR 95% CI 0. 16-0. 77).", "output": {"entities": {"gene": [{"text": "CFH", "start": 117, "end": 120}], "disease": [{"text": "dry", "start": 173, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore not linked to ataxia telangiectasia complementation groups.", "output": {"entities": {"gene": [{"text": "p13", "start": 48, "end": 51}], "disease": [{"text": "telangiectasia", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Tumor regression has been observed following transfer of T cells engineered to express chimeric antigen receptors against CD19 in B-cell malignancies or a T-cell receptor against NY-ESO-1 in synovial cell sarcoma and melanoma.", "output": {"entities": {"gene": [{"text": "CD19", "start": 122, "end": 126}], "disease": [{"text": "sarcoma", "start": 205, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "The parameters determined were the levels of CD4 +, CD19 +, CD19 + CD69 +, CD19 + av, Treg (CD4 + CD25 + CD127lo), BGP, TRAP, IL-17, calcium, phosphate, blood urea nitrogen, serum creatinine (SCr), hemoglobin (Hb) in peripheral blood, and urinary creatinine.", "output": {"entities": {"gene": [{"text": "CD4", "start": 45, "end": 48}], "disease": [{"text": "hemoglobin", "start": 198, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "The epithelial markers E-cadherin (E-Cad) and zona occludin-1 (ZO-1), the mesenchymal markers fibronectin (FN) and vimentin (Vim) and the transcription factors (Snail, Zeb1 Twist and Slug) were further detected at mRNA and protein levels by qRT-PCR and Western blotting, respectively.", "output": {"entities": {"gene": [{"text": "occludin", "start": 51, "end": 59}], "disease": [{"text": "zona", "start": 46, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Serum HGF was significantly higher in the patients with AMI (335. 0 +/-197. 5 pg/ml), unstable angina (269. 1 +/-152. 7 pg/ml), acute aortic dissection (320. 3 +/-116. 5 pg/ml), and pulmonary thromboembolism (292. 5 +/-101. 9 pg/ml), than in those with stable angina (171. 2 +/-56. 1 pg/ml).", "output": {"entities": {"gene": [{"text": "HGF", "start": 6, "end": 9}], "disease": [{"text": "unstable angina", "start": 86, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Additionally, both necrostatin-1, an inhibitor of receptor-interacting protein kinase 1 (RIP1), and siRNA-mediated knockdown of RIP3 decreased the annexin V-/PI + early necrotic population after TRAIL treatment.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 147, "end": 156}], "disease": [{"text": "necrotic", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Recently, a recurrent novel AKT1 pleckstrin homology domain (PHD) mutation leading to membrane translocation, constitutive AKT activation and leukaemia development in mice was described.", "output": {"entities": {"gene": [{"text": "AKT", "start": 28, "end": 31}], "disease": [{"text": "translocation", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "However, it is unknown whether the level of serum IL-6 or genetic IL-6 polymorphism is correlated with the complexity of coronary plaque in patients with stable coronary artery disease (CAD).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 50, "end": 54}], "disease": [{"text": "plaque", "start": 130, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Immunoglobulin E-dependent regulation of the CCR3 chemokine receptor by interferon-gamma in atopic asthmatics.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 45, "end": 49}], "disease": [{"text": "atopic", "start": 92, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The STOP trial was a longitudinal, double-blind, placebo-controlled randomized trial that included 1429 subjects with IGT from high-risk populations.", "output": {"entities": {"gene": [{"text": "STOP", "start": 4, "end": 8}], "disease": [{"text": "blind", "start": 42, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In both a general population cohort and a birth cohort of subjects with nonaffective psychosis, APA was associated with maternal, but not paternal, schizophrenia.", "output": {"entities": {"gene": [{"text": "APA", "start": 96, "end": 99}], "disease": [{"text": "schizophrenia", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Notably, we identified recurrent mutations of known cancer genes, including TP53, CYLD, CDKN2A, BAP1 and PBRM1, in thymic carcinomas.", "output": {"entities": {"gene": [{"text": "CYLD", "start": 82, "end": 86}], "disease": [{"text": "thymic carcinomas", "start": 115, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYLD", "start": 82, "end": 86}, "tail": {"text": "thymic carcinomas", "start": 115, "end": 132}}]}}, "schema": []}
{"input": "Besides insulin resistance, type 2 diabetes is characterized by a deficit in β-cell mass as a result of misfolded human islet amyloid polypeptide (h-IAPP) which forms toxic aggregates that destroy pancreatic β-cells.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 149, "end": 153}], "disease": [{"text": "insulin resistance", "start": 8, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We found that triptolide suppressed RANKL-induced differentiation of precursor cells to osteoclasts, and also inhibited osteoclast formation induced by human breast tumor cells (MDA-MB-231), multiple myeloma cells (U266) and prostate tumor cells (PC-3).", "output": {"entities": {"gene": [{"text": "PC-3", "start": 247, "end": 251}], "disease": [{"text": "multiple myeloma", "start": 191, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of EPCAM, HAS3, and MMP10 transcripts was found in a large fraction of primary bladder tumors analyzed, supporting their key role in bladder tumorigenesis in vivo.", "output": {"entities": {"gene": [{"text": "HAS3", "start": 25, "end": 29}], "disease": [{"text": "bladder tumors", "start": 94, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We detected the transcripts of FRA2, JUND, CCR4, MYB, MDM2, and BCL6 at high levels in CTCL skin lesions.", "output": {"entities": {"gene": [{"text": "FRA2", "start": 31, "end": 35}], "disease": [{"text": "skin lesions", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In an animal model of depression, Flinders Sensitive Line rats, and Sprague Dawley controls we analyzed if 7 weeks of social isolation of adult animals affect the number of newly proliferated cells in the dentate gyrus or mRNAs of Neuropeptide Y (NPY), the NPY-Y1 receptor, nociceptin, BDNF, and the serotonin 5HT1A and 5HT2A receptors, which are molecules involved in hippocampal plasticity.", "output": {"entities": {"gene": [{"text": "nociceptin", "start": 274, "end": 284}], "disease": [{"text": "depression", "start": 22, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nociceptin", "start": 274, "end": 284}, "tail": {"text": "depression", "start": 22, "end": 32}}]}}, "schema": []}
{"input": "Thus, noscapine may possess novel antiangiogenic activity associated with two broad mechanisms of action: first, by decreasing HIF-1alpha expression in hypoxic tumor cells, upregulation of target genes, such as VEGF, would be decreased concomitant with its associated angiogenic activity; second, by inhibiting endothelial cells from forming blood vessels in response to VEGF stimulation, it may limit the process of neo-vascularization, correlating with antitumor activity in vivo.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 211, "end": 215}], "disease": [{"text": "hypoxic", "start": 152, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The genes implicated, which replicated genes previously shown to be associated with alcoholism were: cadherin 11, collagen type 11 & #945; 2, neuromedin U receptor 2, exportin7, and semaphorin-associated protein 5A.", "output": {"entities": {"gene": [{"text": "neuromedin U receptor 2", "start": 142, "end": 165}], "disease": [{"text": "alcoholism", "start": 84, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neuromedin U receptor 2", "start": 142, "end": 165}, "tail": {"text": "alcoholism", "start": 84, "end": 94}}]}}, "schema": []}
{"input": "Moreover, immunohistochemistry on paraffin-embedded tissue revealed c-FLIP expression in 39% (14 of 36) of NKTL patients.", "output": {"entities": {"gene": [{"text": "c-FLIP", "start": 68, "end": 74}], "disease": [{"text": "NKTL", "start": 107, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "c-FLIP", "start": 68, "end": 74}, "tail": {"text": "NKTL", "start": 107, "end": 111}}]}}, "schema": []}
{"input": "Taken together, our observations suggest a synergetic effect of IL-17A and hypoxia that might contribute to the migration and invasion of RA-FLSs by upregulating the expression of MMP2 and MMP9 by activation of the NF-κB/HIF-1α pathway.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 64, "end": 70}], "disease": [{"text": "hypoxia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Three different histologic patterns were observed: (1) lymphoproliferative disease (LPD), (2) anaplastic large cell lymphoma (ALCL), (3) Hodgkin-like lesions (HDLL).", "output": {"entities": {"gene": [{"text": "LPD", "start": 84, "end": 87}], "disease": [{"text": "large cell lymphoma", "start": 105, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In a variety of well-characterized behavioral tasks, including the elevated plus maze (anxiety-like behavior), forced swim test (depression-like behavior), hot plate (nociception) and two cognition models (passive avoidance and acquisition of conditioned avoidance responding), PDE1B knockout mice performed similarly to wild-type mice.", "output": {"entities": {"gene": [{"text": "PDE1B", "start": 278, "end": 283}], "disease": [{"text": "depression", "start": 129, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE1B", "start": 278, "end": 283}, "tail": {"text": "depression", "start": 129, "end": 139}}]}}, "schema": []}
{"input": "Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 105, "end": 111}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "ERRalpha mRNA was expressed at levels greater than or similar to ERalpha mRNA in 24% of unselected breast tumors, and generally at higher levels than ERalpha in the progesterone receptor (PgR)-negative tumor subgroup (1-way ANOVA with repeated measures, P = 0. 030).", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 224, "end": 229}], "disease": [{"text": "breast tumors", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "His weight evolution closely resembled that of patients who are LEPR deficient, but markedly differed with that of children carrying either heterozygous MC4R mutations or MC4R wild type allele.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 64, "end": 68}], "disease": [{"text": "weight", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Mutations in other genes, such as IRS4, GULP1, NHSL1, and C10orf53, accounted for one alteration in each meningioma nodule.", "output": {"entities": {"gene": [{"text": "NHSL1", "start": 47, "end": 52}], "disease": [{"text": "meningioma", "start": 105, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V).", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 105, "end": 116}], "disease": [{"text": "pycnodysostosis", "start": 88, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cathepsin K", "start": 105, "end": 116}, "tail": {"text": "pycnodysostosis", "start": 88, "end": 103}}]}}, "schema": []}
{"input": "In this study, we investigated the expression profiles of the microprocessor complex subunit DiGeorge syndrome critical region gene 8 (DGCR8) and the RISC components argonaute-1 (AGO1), argonaute-2 (AGO2), as well as double-stranded RNA-binding proteins PACT, TARBP1, and TARBP2 in epithelial skin cancer and its premalignant stage.", "output": {"entities": {"gene": [{"text": "RISC", "start": 150, "end": 154}], "disease": [{"text": "skin cancer", "start": 293, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "However, our previous studies in VWF-deficient mice demonstrated delayed but not absent arterial thrombus formation, suggesting that, under these conditions, GPIbalpha may bind other ligands or that a receptor other than GPIbalpha can mediate platelet adhesion.", "output": {"entities": {"gene": [{"text": "GPIbalpha", "start": 158, "end": 167}], "disease": [{"text": "adhesion", "start": 252, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "This is the second description of a clinically relevant CD45 mutation, provides direct evidence for the importance of CD45 in immune function in humans, and suggests that abnormalities in CD45 expression are a possible cause of SCID in humans.", "output": {"entities": {"gene": [{"text": "CD45", "start": 56, "end": 60}], "disease": [{"text": "abnormalities", "start": 171, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "EGFR-antisense cells were morphologically distinct from vector control cells and had a selective decrease in adhesion to laminin-1 that was not observed with vector control cells (P =. 008) or on other extracellular matrix substrates.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "adhesion", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Sialomucin complex (SMC), a rat homologue of the human mucin MUC4, is a large membrane-bound mucin complex, originally isolated from highly metastatic ascites 13762 mammary adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "MUC4", "start": 61, "end": 65}], "disease": [{"text": "mammary adenocarcinoma", "start": 165, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Mutation of the inositol polyphosphate 5-phosphatase OCRL1 results in two disorders in humans, namely Lowe syndrome (characterized by ocular, nervous system, and renal defects) and type 2 Dent disease (in which only the renal symptoms are evident).", "output": {"entities": {"gene": [{"text": "OCRL1", "start": 53, "end": 58}], "disease": [{"text": "Lowe syndrome", "start": 102, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCRL1", "start": 53, "end": 58}, "tail": {"text": "Lowe syndrome", "start": 102, "end": 115}}]}}, "schema": []}
{"input": "After prioritization and network analysis we found recurrent deleterious mutations in 8 individual genes (STAG2, U2AF1, SMC1A, USP9X, IKZF1, LYN, MYCBP2 and PTPN11) with a strong potential of being involved in APL pathogenesis.", "output": {"entities": {"gene": [{"text": "SMC1A", "start": 120, "end": 125}], "disease": [{"text": "APL", "start": 210, "end": 213}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMC1A", "start": 120, "end": 125}, "tail": {"text": "APL", "start": 210, "end": 213}}]}}, "schema": []}
{"input": "The relative EPO mRNA expression in the liver on D19 and in the kidney on D21 were significantly lower in the CDH group than in the controls (P & #8201; = & #8201; 0. 0008 and P & #8201; = & #8201; 0. 0064, respectively).", "output": {"entities": {"gene": [{"text": "EPO", "start": 13, "end": 16}], "disease": [{"text": "CDH", "start": 110, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EPO", "start": 13, "end": 16}, "tail": {"text": "CDH", "start": 110, "end": 113}}]}}, "schema": []}
{"input": "The incidence of thromboembolism was 2. 5% per patient year for protein C deficient and 3. 5% per patient year for protein S deficient patients.", "output": {"entities": {"gene": [{"text": "protein S", "start": 115, "end": 124}], "disease": [{"text": "thromboembolism", "start": 17, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "protein S", "start": 115, "end": 124}, "tail": {"text": "thromboembolism", "start": 17, "end": 32}}]}}, "schema": []}
{"input": "A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.", "output": {"entities": {"gene": [{"text": "EFEMP1", "start": 9, "end": 15}], "disease": [{"text": "Doyne honeycomb retinal dystrophy", "start": 71, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFEMP1", "start": 9, "end": 15}, "tail": {"text": "Doyne honeycomb retinal dystrophy", "start": 71, "end": 104}}]}}, "schema": []}
{"input": "Moreover, we found a strong expression of CCR7 in perifascicular atrophic and in degenerating/regenerating muscle fibers in juvenile dermatomyositis (JDM) but not in fibers from adult polymyositis and Duchenne muscular dystrophy.", "output": {"entities": {"gene": [{"text": "CCR7", "start": 42, "end": 46}], "disease": [{"text": "juvenile dermatomyositis", "start": 124, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Direct sequencing of candidate genes within the target interval revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome.", "output": {"entities": {"gene": [{"text": "FLVCR2", "start": 110, "end": 116}], "disease": [{"text": "Fowler syndrome", "start": 139, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLVCR2", "start": 110, "end": 116}, "tail": {"text": "Fowler syndrome", "start": 139, "end": 154}}]}}, "schema": []}
{"input": "The aim of this study was to isolate a rat counterpart of human LST-1 and examine the expression regulation of its messenger RNA (mRNA) to clarify the molecular basis of cholestasis.", "output": {"entities": {"gene": [{"text": "LST-1", "start": 64, "end": 69}], "disease": [{"text": "cholestasis", "start": 170, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Infarct size was significantly smaller in the hMSCs-treated group than in the angiopoietin-1 (Ang-1) or vascular endothelial growth factor (VEGF)-treated group at day 28 after infarction.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 140, "end": 144}], "disease": [{"text": "infarction", "start": 176, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "In postmenopausal women CYP1A2 activity was positively associated with insulin-like growth factor-1, and negatively associated with plasma triglyceride, high-density lipoprotein cholesterol, and age at menarche.", "output": {"entities": {"gene": [{"text": "CYP1A2", "start": 24, "end": 30}], "disease": [{"text": "age at menarche", "start": 195, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Decreased TM4SF4 gene expression showed minimal liver necrosis and depressed ALT and AST levels.", "output": {"entities": {"gene": [{"text": "TM4SF4", "start": 10, "end": 16}], "disease": [{"text": "liver", "start": 48, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TM4SF4", "start": 10, "end": 16}, "tail": {"text": "liver", "start": 48, "end": 53}}]}}, "schema": []}
{"input": "Up-regulation of TWEAK/Fn14 and hypoxia and ER stress surrogate gene expression was observed in sc and visceral adipose tissue only in our severely obese cohort.", "output": {"entities": {"gene": [{"text": "Fn14", "start": 23, "end": 27}], "disease": [{"text": "hypoxia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that Id-1 may play roles in tumor progression and EMT activation in bladder cancer.", "output": {"entities": {"gene": [{"text": "EMT", "start": 70, "end": 73}], "disease": [{"text": "tumor progression", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Our findings highlight the importance of microduplications at Xp11. 22 to ID, even in sporadic cases, and reveal new clinical and molecular insight into HUWE1 copy number gains.", "output": {"entities": {"gene": [{"text": "HUWE1", "start": 153, "end": 158}], "disease": [{"text": "sporadic", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Moreover, YC-1 dose dependently inhibited mRNA expression levels of VEGF and GPI in hypoxic cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 68, "end": 72}], "disease": [{"text": "hypoxic", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Another model suggests that CCM develop according to the two-hit model of tumorigenesis associated with biallelic inactivation of KRIT1.", "output": {"entities": {"gene": [{"text": "KRIT1", "start": 130, "end": 135}], "disease": [{"text": "CCM", "start": 28, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRIT1", "start": 130, "end": 135}, "tail": {"text": "CCM", "start": 28, "end": 31}}]}}, "schema": []}
{"input": "Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 35, "end": 40}], "disease": [{"text": "Dejerine-Sottas disease", "start": 91, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 35, "end": 40}, "tail": {"text": "Dejerine-Sottas disease", "start": 91, "end": 114}}]}}, "schema": []}
{"input": "Therefore the expression of nerve growth factor (NGF), BDNF, neurotrophin-3 (NT-3), and neurotrophin-4/5 (NT-4/5) was investigated in postmortem muscle tissue of the biceps from 15 patients with neuropathologically confirmed sporadic ALS and 15 age-matched controls.", "output": {"entities": {"gene": [{"text": "NT-4/5", "start": 106, "end": 112}], "disease": [{"text": "sporadic", "start": 225, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "XPF protein may be a predictive marker for cisplatin responsiveness of metastases in HNSCC patients.", "output": {"entities": {"gene": [{"text": "XPF", "start": 0, "end": 3}], "disease": [{"text": "metastases", "start": 71, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XPF", "start": 0, "end": 3}, "tail": {"text": "metastases", "start": 71, "end": 81}}]}}, "schema": []}
{"input": "The aim of the present study is to compare the personality traits of euthymic bipolar patients with healthy controls and to investigate the effect of the catechol-O-methyltransferase (COMT) Val158Met genotype on those traits.", "output": {"entities": {"gene": [{"text": "COMT", "start": 184, "end": 188}], "disease": [{"text": "personality traits", "start": 47, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Explicit role of peroxisome proliferator-activated receptor gamma in gallic acid-mediated protection against ischemia-reperfusion-induced acute kidney injury in rats.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor gamma", "start": 17, "end": 65}], "disease": [{"text": "acute kidney injury", "start": 138, "end": 157}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "peroxisome proliferator-activated receptor gamma", "start": 17, "end": 65}, "tail": {"text": "acute kidney injury", "start": 138, "end": 157}}]}}, "schema": []}
{"input": "Lipocalin 2 is required for BCR-ABL-induced tumorigenesis.", "output": {"entities": {"gene": [{"text": "Lipocalin 2", "start": 0, "end": 11}], "disease": [{"text": "tumorigenesis", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We examined the frequency of germ-line msh6 mutations in a population-based series of 140 colorectal cancer patients, including 45 sporadic cases, 91 familial non-HNPCC cases, and 4 HNPCC cases.", "output": {"entities": {"gene": [{"text": "msh6", "start": 39, "end": 43}], "disease": [{"text": "sporadic", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Reverse transcriptase (RT)-PCR with primers specific for surfactant protein A (SP-A), B (SP-B), C (SP-C), and D (SP-D) genes was applied to detect metastatic non-small cell lung carcinomas.", "output": {"entities": {"gene": [{"text": "SP-D", "start": 113, "end": 117}], "disease": [{"text": "carcinomas", "start": 178, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Also, adenovirally transferred TIMP3 reduced adhesion, migration and invasion behaviors of CT26 cells in vitro.", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 31, "end": 36}], "disease": [{"text": "adhesion", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Variations for genes encoding receptors related to cold and heat sensation, such as transient receptor potential A subtype 1 (TRPA1), M subtype 8 (TRPM8), V subtype 1 (TRPV1), delta opioid receptor subtype 1 (OPRD1), catechol O-methyltransferase (COMT), and fatty acid amide hydrolyase (FAAH), were investigated in four major ethnic populations.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 147, "end": 152}], "disease": [{"text": "cold", "start": 51, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Opioid anesthesia during operation may prevent postoperative beta-endorphin hypersecretion.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 61, "end": 75}], "disease": [{"text": "anesthesia", "start": 7, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "That rare susceptibility variants indeed contribute to variation in multifactorial phenotypes has been demonstrated for colorectal cancer, plasma high-density lipoprotein cholesterol levels, blood pressure, type 1 diabetes, hypertriglyceridemia and, in the case of Crohn' s disease, for NOD2 (refs.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 287, "end": 291}], "disease": [{"text": "blood pressure", "start": 191, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "To demonstrate that these findings are specific, 10 samples of lichen planus were analysed without evidence for FGFR3, PIK3CA or RAS mutations.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 112, "end": 117}], "disease": [{"text": "lichen planus", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We investigated microsatellite instability (MSI) and status of mismatch repair (MMR) gene product, MLH1, MSH2 and MSH6, in 63 sporadic endometrial cancers coexisting with colorectal or breast cancer.", "output": {"entities": {"gene": [{"text": "MMR", "start": 80, "end": 83}], "disease": [{"text": "microsatellite instability", "start": 16, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Female European Americans with the TRPV1 Val (585) Val allele and males with low harm avoidance showed longer cold withdrawal times based on the classification and regression tree (CART) analysis.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 35, "end": 40}], "disease": [{"text": "cold", "start": 110, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Immunohistological analysis of biopsies along the GI tract (stomach, duodenum, colon) immunostained with chromogranin A and serotonin revealed a widespread reduction or complete loss of EE cells in all four patients with APECED syndrome suffering from severe diarrhea, vomiting, malabsorption, or constipation.", "output": {"entities": {"gene": [{"text": "chromogranin A", "start": 105, "end": 119}], "disease": [{"text": "malabsorption", "start": 279, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "By contrast, SHOX overdosage usually leads to long limbs and tall stature resulting from continued growth into the late teens in subjects with gonadal dysgenesis.", "output": {"entities": {"gene": [{"text": "SHOX", "start": 13, "end": 17}], "disease": [{"text": "tall stature", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Therefore, our results suggest miR-302b can play an essential role in osteosarcoma treatment as a potential tumor suppressor.", "output": {"entities": {"gene": [{"text": "miR-302b", "start": 31, "end": 39}], "disease": [{"text": "osteosarcoma", "start": 70, "end": 82}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-302b", "start": 31, "end": 39}, "tail": {"text": "osteosarcoma", "start": 70, "end": 82}}]}}, "schema": []}
{"input": "Efforts to understand the pathogenesis of pulmonary fibrosis have focused primarily upon collagen turnover in the lung; few studies have focused on elastin.", "output": {"entities": {"gene": [{"text": "elastin", "start": 148, "end": 155}], "disease": [{"text": "pulmonary fibrosis", "start": 42, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "elastin", "start": 148, "end": 155}, "tail": {"text": "pulmonary fibrosis", "start": 42, "end": 60}}]}}, "schema": []}
{"input": "Although TGF-beta secretion increased, the proliferation of melanoma cells was found to be only moderately inhibited by TGF-beta isoforms, in contrast to its strong antiproliferative effect on normal human melanocytes:-15%,-11%, and-18% vs.-52%,-46%, and-50% average inhibition at 0. 5 ng/ml TGF-beta1,-beta2, and-beta3, respectively.", "output": {"entities": {"gene": [{"text": "beta3", "start": 314, "end": 319}], "disease": [{"text": "melanoma", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The molecular coupling of the adaptor protein Crk to the docking protein p130 (Cas) serves as a switch that regulates cell migration in several invasive cancer cells and Ack appears to act upstream of CrkII to modulate the cell motility.", "output": {"entities": {"gene": [{"text": "docking protein", "start": 57, "end": 72}], "disease": [{"text": "invasive cancer", "start": 144, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Analysis of MAI, immunohistochemical staining patterns for proliferation-associated phosphohistone H3 (PPH3), phosphorylated ERK1/2, p21, cyclin E, Ki67 and cyclin D1 proteins; and prognosis in 158 adjuvant chemotherapy-treated T1-2N0M0 invasive breast cancer patients, analysis of LOH at 1p31 (including ARHI) using the dinucleotide repeats D1S207, D1S430 and D1S464 in 76 patients.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 125, "end": 129}], "disease": [{"text": "invasive breast cancer", "start": 237, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "In addition, the mitochondrial genes MT-CO2, MT-CO3, MT-ATP6, and MT-ND6 were sequenced in further 35 paired samples from prostate cancer patients.", "output": {"entities": {"gene": [{"text": "MT-CO3", "start": 45, "end": 51}], "disease": [{"text": "prostate cancer", "start": 122, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "PSAT1 expression was elevated in ESCC tissues compared to normal esophageal tissues.", "output": {"entities": {"gene": [{"text": "PSAT1", "start": 0, "end": 5}], "disease": [{"text": "esophageal", "start": 65, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We proposed for the first time that DNMT1 played a key role in PDGF-induced RASM cell phenotypic switching and Aza-CdR is promising in intervening ASM remodeling in asthma.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 36, "end": 41}], "disease": [{"text": "asthma", "start": 165, "end": 171}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNMT1", "start": 36, "end": 41}, "tail": {"text": "asthma", "start": 165, "end": 171}}]}}, "schema": []}
{"input": "Except for one retroperitoneal leiomyosarcoma, nuclear INI1 expression was retained in all composite rhabdoid tumors, including meningiomas with 22q deletion.", "output": {"entities": {"gene": [{"text": "INI1", "start": 55, "end": 59}], "disease": [{"text": "retroperitoneal leiomyosarcoma", "start": 15, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The K-sam-related gene, N-sam (NCC-IT-cell-derived sam), was isolated by screening of the cDNA libraries of human immature teratoma cells, NCC-IT.", "output": {"entities": {"gene": [{"text": "N-sam", "start": 24, "end": 29}], "disease": [{"text": "immature teratoma", "start": 114, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "We conclude that enhanced expression of ATX in the active mucosa has been implicated in the pathophysiology of inflammatory bowel disease through enhancing aberrant lymphocyte migration to the inflamed mucosa.", "output": {"entities": {"gene": [{"text": "ATX", "start": 40, "end": 43}], "disease": [{"text": "inflammatory bowel disease", "start": 111, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4.", "output": {"entities": {"gene": [{"text": "ARID1A", "start": 131, "end": 137}], "disease": [{"text": "Burkitt lymphomas", "start": 56, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARID1A", "start": 131, "end": 137}, "tail": {"text": "Burkitt lymphomas", "start": 56, "end": 73}}]}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) and inflammation play important roles during tumor progression of colorectal cancer (CRC).", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Stanniocalcin-1 (STC1) is a secreted glycoprotein implicated in several pathologies including retinal degeneration, cerebral ischemia, angiogenesis and inflammation.", "output": {"entities": {"gene": [{"text": "STC1", "start": 17, "end": 21}], "disease": [{"text": "retinal degeneration", "start": 94, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "However, it is unknown whether xerosis independent of FLG mutations could also increase the risk of asthma.", "output": {"entities": {"gene": [{"text": "FLG", "start": 54, "end": 57}], "disease": [{"text": "xerosis", "start": 31, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Cryptic t (12; 15) (p13; q26) producing the ETV6-NTRK3 fusion gene and no loss of IGF2 imprinting in congenital mesoblastic nephroma with trisomy 11: fluorescence in situ hybridization and IGF2 allelic expression analysis.", "output": {"entities": {"gene": [{"text": "ETV6-NTRK3 fusion", "start": 44, "end": 61}], "disease": [{"text": "congenital mesoblastic nephroma", "start": 101, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ETV6-NTRK3 fusion", "start": 44, "end": 61}, "tail": {"text": "congenital mesoblastic nephroma", "start": 101, "end": 132}}]}}, "schema": []}
{"input": "Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.", "output": {"entities": {"gene": [{"text": "Lamp-2", "start": 82, "end": 88}], "disease": [{"text": "Danon disease", "start": 38, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Lamp-2", "start": 82, "end": 88}, "tail": {"text": "Danon disease", "start": 38, "end": 51}}]}}, "schema": []}
{"input": "In contrast, higher insulin responses and blunted 60-min GLP-1 responses during the OGTT were observed in the heavier as compared with leaner MZ cotwins discordant for BMI, liver fat, and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 57, "end": 62}], "disease": [{"text": "insulin sensitivity", "start": 188, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Subcutaneous air pouch and systemic candidiasis models demonstrated that endogenous thrombospondin-1 enhances the early innate immune response against C. albicans and promotes activation of inflammatory macrophages (inducible nitric oxide synthase ⁺, IL-6 (high), TNF-α (high), IL-10 (low)), release of the chemokines MIP-2, JE, MIP-1α, and RANTES, and CXCR2-driven polymorphonuclear leukocytes recruitment.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 341, "end": 347}], "disease": [{"text": "systemic candidiasis", "start": 27, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Neither t (11; 18) (q21; q21), nor t (1; 14) (p22; q32) or any other translocation involving IGH, BCL10, MALT1, BCL2 and API2, amplification or deletion of chromosomal region 11q21, 18q21, 1p22, and 14q32 was detected.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 112, "end": 116}], "disease": [{"text": "translocation", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Our findings identify PI3K/AKT pathway mutations as an important cause of epileptogenic brain malformations and establish megalencephaly, hemimegalencephaly, and focal cortical dysplasia as part of a single pathogenic spectrum.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 22, "end": 26}], "disease": [{"text": "brain malformations", "start": 88, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Angiotensin-(1-7) receptor blockade by D-Ala (7)-Ang-(1-7) prevented the ACE2-mediated improvements in intraperitoneal glucose tolerance, glycemia, and islet function and also impaired insulin sensitivity in both Ad-hACE2-eGFP-and Ad-eGFP-treated db/db mice.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 73, "end": 77}], "disease": [{"text": "insulin sensitivity", "start": 185, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Hypermethylation of the hMLH1 gene promoter, polymorphisms of the GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2 and L-myc genes, microsatellite instability and mutations of p53 and Ki-ras genes were investigated.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 66, "end": 71}], "disease": [{"text": "microsatellite instability", "start": 119, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The thiopurine drugs azathioprine, mercaptopurine and thioguanine are substrates for TPMT; these drugs exhibit well documented myelosuppressive effects on haematopoietic cells and have a track record of idiosyncratic drug reactions.", "output": {"entities": {"gene": [{"text": "TPMT", "start": 85, "end": 89}], "disease": [{"text": "drug reactions", "start": 217, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "In order to identify new mutations in the AGXT gene we studied 79 PH1 patients using single strand conformation polymorphism analysis.", "output": {"entities": {"gene": [{"text": "AGXT", "start": 42, "end": 46}], "disease": [{"text": "PH1", "start": 66, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGXT", "start": 42, "end": 46}, "tail": {"text": "PH1", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "These data suggest that ADM plays an important role in promoting bladder cancer cell growth under hypoxia and that the inhibition of ADM may provide a target for bladder cancer therapy.", "output": {"entities": {"gene": [{"text": "ADM", "start": 24, "end": 27}], "disease": [{"text": "hypoxia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.", "output": {"entities": {"gene": [{"text": "KIF2A", "start": 39, "end": 44}], "disease": [{"text": "malformations of cortical development", "start": 51, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KIF2A", "start": 39, "end": 44}, "tail": {"text": "malformations of cortical development", "start": 51, "end": 88}}]}}, "schema": []}
{"input": "The HBx-Skp2 interaction led to the accumulation of transcriptionally active E2F1 and histone methyltransferase mixed lineage leukemia 1 (MLL1) protein.", "output": {"entities": {"gene": [{"text": "E2F1", "start": 77, "end": 81}], "disease": [{"text": "mixed lineage leukemia", "start": 112, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Recent studies of rare human translocation patients narrowed the PWS critical genes to a 121-kb region containing PWCR1/HBII-85 and HBII-438 snoRNA genes.", "output": {"entities": {"gene": [{"text": "PWCR1", "start": 114, "end": 119}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "HLA-DR3 seems a marker of the intermediate form of uveitis (p, uncorrected 0. 03); the absence of DR1 in the patient group with posterior uveitis may be a protecting factor (p. uncorrected less than 0. 01); the presence of DR4 in all cases of panuveitis is statistically significant (p, uncorrected = 0. 0006).", "output": {"entities": {"gene": [{"text": "DR1", "start": 98, "end": 101}], "disease": [{"text": "posterior uveitis", "start": 128, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Osteopontin (Opn) is a Th1 cytokine whose levels have been found increased in granulomas and serum samples from patients with sarcoidosis.", "output": {"entities": {"gene": [{"text": "Th1", "start": 23, "end": 26}], "disease": [{"text": "sarcoidosis", "start": 126, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "1LPS, but not 6LPS group, showed decreased food intake and body weight, which was associated with an increased plasma leptin and higher mRNA expression of OB-Rb, MC4R, and SOCS3 in the hypothalamus.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 172, "end": 177}], "disease": [{"text": "body weight", "start": 59, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Male subjects with iron deficiency from the general population were examined for polymorphisms or sporadic mutations in TMPRSS6 to identify genetic risk factors for iron deficiency anemia.", "output": {"entities": {"gene": [{"text": "TMPRSS6", "start": 120, "end": 127}], "disease": [{"text": "sporadic", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Polycomb-group proteins Bmi1 is regarded as a \" stemness \" gene involved in the maintenance of stem cells, malignant transformation, and biologic aggressiveness of several human carcinomas.", "output": {"entities": {"gene": [{"text": "Bmi1", "start": 24, "end": 28}], "disease": [{"text": "aggressiveness", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The present study aimed to investigate the involvement of GRP in endoplasmic reticulum (ER) stress-mediated apoptosis during colon cancer development, with focus on the correlation between AST-evoked regulation of GRP and calpain activation.", "output": {"entities": {"gene": [{"text": "AST", "start": 189, "end": 192}], "disease": [{"text": "colon cancer", "start": 125, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The exons 8 and 14 of ATP7B gene were analyzed in 65 unrelated Wilson disease patients by Denaturing High Performance Liquid Chromatography, and samples with abnormal peak profile were selected for direct DNA sequencing.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 22, "end": 27}], "disease": [{"text": "Wilson disease", "start": 63, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 22, "end": 27}, "tail": {"text": "Wilson disease", "start": 63, "end": 77}}]}}, "schema": []}
{"input": "The results will contribute to the expanding database of ATP2A2 & #8195; mutations in patients with DD and be useful for inherited counseling and prenatal examination for affected families.", "output": {"entities": {"gene": [{"text": "ATP2A2", "start": 57, "end": 63}], "disease": [{"text": "DD", "start": 100, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2A2", "start": 57, "end": 63}, "tail": {"text": "DD", "start": 100, "end": 102}}]}}, "schema": []}
{"input": "Familial clustering of juvenile autoimmune liver disease (AILD), including autoimmune hepatitis and autoimmune sclerosing cholangitis (ASC), is rare, despite a high prevalence of autoimmune disorders in AILD families.", "output": {"entities": {"gene": [{"text": "ASC", "start": 135, "end": 138}], "disease": [{"text": "autoimmune disorders", "start": 179, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "We studied gene variants in the tyrosine hydroxylase (rs3842727, rs6356) and DOPA decarboxylase (rs1451371, rs1470750, rs998850) genes in a sample of 571 individuals consisting of 167 German suicide attempters (affective spectrum n = 107, schizophrenia spectrum n = 35, borderline personality disorder n = 25), 92 Caucasian individuals who committed suicide and 312 German control subjects.", "output": {"entities": {"gene": [{"text": "tyrosine hydroxylase", "start": 32, "end": 52}], "disease": [{"text": "personality disorder", "start": 281, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "Because PRKCSH encodes GII & #946;, GANAB is a strong ADPKD and ADPLD candidate gene.", "output": {"entities": {"gene": [{"text": "GANAB", "start": 36, "end": 41}], "disease": [{"text": "ADPKD", "start": 54, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GANAB", "start": 36, "end": 41}, "tail": {"text": "ADPKD", "start": 54, "end": 59}}]}}, "schema": []}
{"input": "It remains to be determined if JAK2 inhibitors can considerably impact disease progression and bone marrow histologic features (e. g., fibrosis) or significantly impact the JAK2 allele burden.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 31, "end": 35}], "disease": [{"text": "fibrosis", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "MicroRNA-181c functions as a protective factor in a 1-methyl-4-phenylpyridinium iodide-induced cellular Parkinson' s disease model via BCL2L11.", "output": {"entities": {"gene": [{"text": "MicroRNA-181c", "start": 0, "end": 13}], "disease": [{"text": "Parkinson' s disease", "start": 104, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MicroRNA-181c", "start": 0, "end": 13}, "tail": {"text": "Parkinson' s disease", "start": 104, "end": 124}}]}}, "schema": []}
{"input": "We report on a 12-year-old boy with Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) due to mutations in the SAMHD1 (sterile alpha motif domain and HD domain-containing protein 1) gene, illustrating an emerging pattern of the natural history of Aicardi-Goutières syndrome characterized by neurological disease followed by symptoms of systemic autoimmunity.", "output": {"entities": {"gene": [{"text": "SAMHD1", "start": 126, "end": 132}], "disease": [{"text": "neurological disease", "start": 306, "end": 326}]}, "relations": {}}, "schema": []}
{"input": "We report somatic mutations in three genes (CSNK1 epsilon, encoding the Ser/Thr kinase casein kinase I epsilon; DLG1, encoding a membrane-associated putative scaffolding protein; and EDD/hHYD, encoding a progestin induced putative ubiquitin-protein ligase) in mammary ductal carcinoma.", "output": {"entities": {"gene": [{"text": "ubiquitin-protein ligase", "start": 231, "end": 255}], "disease": [{"text": "mammary ductal carcinoma", "start": 260, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "These data represent the first in vivo experimental validation of the association of Adamts7 with atherogenesis, likely through modulation of vascular cell migration and matrix in atherosclerotic lesions.", "output": {"entities": {"gene": [{"text": "Adamts7", "start": 85, "end": 92}], "disease": [{"text": "atherogenesis", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In a large community population (n = 1000; age, 50 to 65 years), we studied the effects of the interleukin-6 (IL-6)-174 polymorphism and gene-alcohol interactions on common carotid artery intima-media thickness (CCA-IMT) and carotid plaque.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 110, "end": 114}], "disease": [{"text": "plaque", "start": 233, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "CSE induced TSLP expression in the mouse lung in an oxidative stress-dependent and TNF-alpha receptor I-dependent manner, and when challenged simultaneously with an antigen, CSE promoted the development of airway inflammation in association with T (H) 2-type immune responses.", "output": {"entities": {"gene": [{"text": "CSE", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 213, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Beta 0-thalassemia due to a nonsense mutation at beta 90 (GAG----TAG) in human hemoglobin gene.", "output": {"entities": {"gene": [{"text": "TAG", "start": 65, "end": 68}], "disease": [{"text": "thalassemia", "start": 7, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "MPP + rapidly increased the binding, followed by dissociation, which is probably needed for WOX1 to exert apoptosis.", "output": {"entities": {"gene": [{"text": "WOX1", "start": 92, "end": 96}], "disease": [{"text": "dissociation", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "This study investigates the immunohistochemical expression of the important cell cycle regulators phosphatase and tensin homolog deleted on chromosome 10 (PTEN), p27, Cks1, and Skp2 in 128 non-small cell lung carcinomas (64 adenocarcinomas, 46 squamous cell carcinomas, and 18 large cell undifferentiated carcinomas) and adjacent non-neoplastic lung tissue.", "output": {"entities": {"gene": [{"text": "Cks1", "start": 167, "end": 171}], "disease": [{"text": "non-neoplastic", "start": 330, "end": 344}]}, "relations": {}}, "schema": []}
{"input": "In these organs, the SOX2 protein plays an important role in tumorigenesis and tumor survival.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 21, "end": 25}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In monocarboxylate transporter 8 (MCT8) gene deficiency, a syndrome combining thyroid and neurological abnormalities, the central nervous system has not yet been characterized by magnetic resonance (MR) spectroscopy.", "output": {"entities": {"gene": [{"text": "MCT8", "start": 34, "end": 38}], "disease": [{"text": "abnormalities", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The relationships between mismatch repair (MMR) protein expression, microsatellite instability (MSI), family history, and germline MMR gene mutation status have not been studied on a population basis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 43, "end": 46}], "disease": [{"text": "microsatellite instability", "start": 68, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "ERCC1 influence on the incidence of brain metastases in patients with non-squamous NSCLC treated with adjuvant cisplatin-based chemotherapy.", "output": {"entities": {"gene": [{"text": "ERCC1", "start": 0, "end": 5}], "disease": [{"text": "metastases", "start": 42, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERCC1", "start": 0, "end": 5}, "tail": {"text": "metastases", "start": 42, "end": 52}}]}}, "schema": []}
{"input": "Some exons of ATP7B gene mutations were analyzed in patients with WD by using biochemical methods, polymerase chain reaction-single strand configuration polymorphism (PCR-SSCP) and DNA sequence analysis.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 14, "end": 19}], "disease": [{"text": "WD", "start": 66, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 14, "end": 19}, "tail": {"text": "WD", "start": 66, "end": 68}}]}}, "schema": []}
{"input": "IL-1β, TNF-α, IL-17 and IL-23 have been reported to be involved in Hp-induced gastric mucosal inflammation, but the details and association to different patterns of inflammation and virulence factors remain unclear.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 14, "end": 19}], "disease": [{"text": "mucosal inflammation", "start": 86, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Hematopoietic stem cell expansion and distinct myeloid developmental abnormalities in a murine model of the AML1-ETO translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 108, "end": 112}], "disease": [{"text": "translocation", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Molecular cloning of the t (18; 22) (q21. 3; q11) showed that the translocation disrupted the BCL2 promoter region and the first untranslated BCL2 exon.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 94, "end": 98}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Downregulation of APOBEC3G by xenotropic murine leukemia-virus related virus (XMRV) in prostate cancer cells.", "output": {"entities": {"gene": [{"text": "APOBEC3G", "start": 18, "end": 26}], "disease": [{"text": "prostate cancer", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The rAAV-antiCD151 is a novel tool, which can reduce the expression of CD151 and inhibit the migration of the tumor cells, and brings us a new approach of anti-sene gene therapy targeted at CD151 in human carcinoma.", "output": {"entities": {"gene": [{"text": "CD151", "start": 13, "end": 18}], "disease": [{"text": "carcinoma", "start": 205, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, abnormalities of the E-cadherin/catenin complex appear to be more pronounced in DSV than in classical PTC.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 36, "end": 46}], "disease": [{"text": "abnormalities", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxic conditions, HEXIM1 inhibits estrogen-induced hypoxia-inducible factor-1 alpha (HIF-1alpha) protein expression and recruitment of HIF-1alpha to the hypoxia-response element in the VEGF promoter.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 193, "end": 197}], "disease": [{"text": "hypoxia", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Haplotypes that included DDX39B (-22C > G and-348C > T) and TNF polymorphisms were not directly associated with mild or complicated malaria infections; however, haplotypes AGC, ACC, GGT, AGT and ACT were associated with increased TNF levels.", "output": {"entities": {"gene": [{"text": "GGT", "start": 182, "end": 185}], "disease": [{"text": "infections", "start": 140, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Rats with streptozotocin (STZ)-induced diabetes exhibit alterations in cardiac function, ventricular remodeling, and changes in cell signaling, which includes protein kinase C (PKC) isoforms.", "output": {"entities": {"gene": [{"text": "STZ", "start": 26, "end": 29}], "disease": [{"text": "ventricular remodeling", "start": 89, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that in male mice GHRH deficiency brings about an increased physical activity and decreased anxiety-and depression-related behaviour, possibly related to increased TRH and decreased NE levels in the brain.", "output": {"entities": {"gene": [{"text": "TRH", "start": 186, "end": 189}], "disease": [{"text": "depression", "start": 126, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 186, "end": 189}, "tail": {"text": "depression", "start": 126, "end": 136}}]}}, "schema": []}
{"input": "These findings suggest that the ZNF74 gene plays a role as one of the modifying factors for schizophrenia.", "output": {"entities": {"gene": [{"text": "ZNF74", "start": 32, "end": 37}], "disease": [{"text": "schizophrenia", "start": 92, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZNF74", "start": 32, "end": 37}, "tail": {"text": "schizophrenia", "start": 92, "end": 105}}]}}, "schema": []}
{"input": "In 276 stroke cases, depression was diagnosed using DSM-IV at 2 weeks after stroke, further classified to major PSD (N = 29), all (major plus minor) PSD (N = 77), and control (N = 199) groups.", "output": {"entities": {"gene": [{"text": "PSD", "start": 112, "end": 115}], "disease": [{"text": "stroke", "start": 7, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that RNF43 is involved in tumorigenesis and progression of HCCs and that antagonism of RNF43 may be beneficial for HCC treatment.", "output": {"entities": {"gene": [{"text": "RNF43", "start": 27, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the expression of both HERV-E and ERV3 (another class of HERV) was detected in the same prostate carcinoma tissues.", "output": {"entities": {"gene": [{"text": "ERV3", "start": 47, "end": 51}], "disease": [{"text": "prostate carcinoma", "start": 101, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In addition, the effects of cytokines on AdipoR1 and AdipoR2 expression in cultured gastric cancer cells were examined.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 53, "end": 60}], "disease": [{"text": "gastric cancer", "start": 84, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "EGR3", "start": 142, "end": 146}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGR3", "start": 142, "end": 146}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "To clarify the proteomic differences in LCA eyes, a cohort of retinal degeneration 12 (rd12) mice, an LCA2 model caused by a mutation in the RPE65 gene, were injected subretinally with an AAV vector (scAAV5-smCBA-hRPE65) in one eye, while the contralateral eye served as a control.", "output": {"entities": {"gene": [{"text": "AAV", "start": 188, "end": 191}], "disease": [{"text": "retinal degeneration", "start": 62, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The levels of a small heat shock protein (Hsp) 20 and its phosphorylation are increased on ischemic insults, and overexpression of Hsp20 protects the heart against ischemia/reperfusion injury.", "output": {"entities": {"gene": [{"text": "Hsp20", "start": 131, "end": 136}], "disease": [{"text": "ischemia", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated a mechanism that may regulate the expression of Ets-1 in vascular endothelial growth factor (VEGF)-and hypoxia-induced retinal neovascularization and that may have potential to inhibit ocular neovascular diseases.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 115, "end": 119}], "disease": [{"text": "hypoxia", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We cultured the two cell lines under hypoxia and normoxia and examined the influence of hypoxia on the expression of hypoxia-inducible factors (HIFs) and the cancer stem-like properties of these cells, including cell cycle distribution, expression of stem cell genes (OCT4, SOX2 and NANOG) and laryngeal CSC surface marker (CD133), proliferation, invasion, colony formation and sphere formation capacity.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 274, "end": 278}], "disease": [{"text": "hypoxia", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "It demonstrated that apoM expression was significantly positively correlated to the placental weight, fetal birth weight, pregestational body mass index (BMI), weight gain during pregnancy, maternal weight, maternal BMI and the mRNA levels of IGF-IR as well as IGF-IIR.", "output": {"entities": {"gene": [{"text": "apoM", "start": 21, "end": 25}], "disease": [{"text": "weight gain", "start": 160, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The Wilson disease gene, a copper transporting ATPase (Atp7b), is responsible for the sequestration of Cu into secretory vesicles, and this function is exhibited by the orthologous Ccc2p in the yeast.", "output": {"entities": {"gene": [{"text": "Atp7b", "start": 55, "end": 60}], "disease": [{"text": "Wilson disease", "start": 4, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Atp7b", "start": 55, "end": 60}, "tail": {"text": "Wilson disease", "start": 4, "end": 18}}]}}, "schema": []}
{"input": "Our data validate the concept of enhanced anti-tumor immunity by repetitive ACT of ex vivo cblb siRNA-silenced hyper-reactive CD8 (+) T cells as add-on adjuvant therapy to augment the efficacy of existing cancer immunotherapy regimens in clinical practice.", "output": {"entities": {"gene": [{"text": "cblb", "start": 91, "end": 95}], "disease": [{"text": "tumor immunity", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The RNA-binding proteins, TDP-43 and FUS, are principal components of cytoplasmic inclusions found in motor neurons of ALS patients and mutations in TDP-43 and FUS are linked to familial and sporadic ALS.", "output": {"entities": {"gene": [{"text": "FUS", "start": 37, "end": 40}], "disease": [{"text": "sporadic", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Initially the sera of 30 individuals (six normoglycemic HCC patients, three with HCC and recurrent hypoglycemia, 11 patients with noncancerous liver diseases, and 10 healthy black controls) were analyzed for the presence of insulin (and glucagon) antibodies by precipitating the bound, labeled hormone with ethanol and also by the technique of radioimmunoelectrophoresis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 56, "end": 59}], "disease": [{"text": "liver diseases", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Immunomodulatory effects of secondary hyperparathyroidism on circulating CD4 + and CD8 + T-lymphocytes in chronic renal failure patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 73, "end": 76}], "disease": [{"text": "chronic renal failure", "start": 106, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The NLRP1 variant (rs12150220) was significantly more common in fair-skinned female patients (OR, 1. 85; CI, 1. 04-3. 33) and showed strong associations with nodular melanoma (OR, 6. 03; CI, 1. 33-25).", "output": {"entities": {"gene": [{"text": "NLRP1", "start": 4, "end": 9}], "disease": [{"text": "nodular melanoma", "start": 158, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "SNPs in CHRNA6 and CHRNB3 are associated with alcohol consumption in a nationally representative sample.", "output": {"entities": {"gene": [{"text": "CHRNA6", "start": 8, "end": 14}], "disease": [{"text": "alcohol consumption", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "This targeted analysis involving NOTCH1 exons previously implicated in familial and sporadic bicuspid aortic valve demonstrates overrepresentation of NOTCH1 missense variants among patients with bicuspid aortic valves and thoracic aortic aneurysms.", "output": {"entities": {"gene": [{"text": "NOTCH1", "start": 33, "end": 39}], "disease": [{"text": "sporadic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Changes in VEGF-A expression during hypoxia were preceded by nuclear accumulation of hypoxia inducible factor-1alpha (HIF-1alpha).", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 11, "end": 17}], "disease": [{"text": "hypoxia", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Approximately 95% of all Friedreich' s ataxia (FA) patients are homozygous for a large GAA triplet-repeat expansion in the first intron of the Friedreich' s ataxia gene (FRDA).", "output": {"entities": {"gene": [{"text": "Friedreich' s ataxia", "start": 143, "end": 163}], "disease": [{"text": "FA", "start": 47, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Friedreich' s ataxia", "start": 143, "end": 163}, "tail": {"text": "FA", "start": 47, "end": 49}}]}}, "schema": []}
{"input": "Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.", "output": {"entities": {"gene": [{"text": "ND1", "start": 68, "end": 71}], "disease": [{"text": "Leber hereditary optic neuropathy", "start": 0, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND1", "start": 68, "end": 71}, "tail": {"text": "Leber hereditary optic neuropathy", "start": 0, "end": 33}}]}}, "schema": []}
{"input": "Monoammonium glycyrrhizinate (MAG) is used for the treatment of viral hepatitis or the prevention of chronic liver diseases.", "output": {"entities": {"gene": [{"text": "MAG", "start": 30, "end": 33}], "disease": [{"text": "viral hepatitis", "start": 64, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "To establish a possible functional relationship between IL-18 and MMPs in myeloid leukemia, we used semi-quantitative PCR and zymographic analysis to examine whether IL-18 stimulates human myeloid leukemia cell line HL-60 to produce MMPs and/or specific tissue inhibitors (TIMPs), and to degrade extracellular matrix (ECM) gel in vitro.", "output": {"entities": {"gene": [{"text": "ECM", "start": 318, "end": 321}], "disease": [{"text": "myeloid leukemia", "start": 74, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 54, "end": 58}], "disease": [{"text": "polycythaemia vera", "start": 91, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "JAK2", "start": 54, "end": 58}, "tail": {"text": "polycythaemia vera", "start": 91, "end": 109}}]}}, "schema": []}
{"input": "Female, but not male, TRH-R2 knockout mice exhibit moderately increased depression-like and reduced anxiety-like phenotypes.", "output": {"entities": {"gene": [{"text": "TRH", "start": 22, "end": 25}], "disease": [{"text": "depression", "start": 72, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 22, "end": 25}, "tail": {"text": "depression", "start": 72, "end": 82}}]}}, "schema": []}
{"input": "We report here on the screening of 596 sporadic ALS patients, 41 familial ALS cases and other motor neuron disease patients from Germany for mutations in the FUS/TLS gene.", "output": {"entities": {"gene": [{"text": "TLS", "start": 162, "end": 165}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Here, we tested the hypothesis that hyperglycemia mediates induction of VEGF expression in a eukaryotic initiation factor 4E (eIF4E) binding protein (4E-BP) 1 and 2 dependent manner.", "output": {"entities": {"gene": [{"text": "eIF4E", "start": 126, "end": 131}], "disease": [{"text": "hyperglycemia", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "No correlation was found between salbutamol responsiveness and ADRB2 genotype in Northern Indian children with asthma with mild-to moderate exacerbation.", "output": {"entities": {"gene": [{"text": "ADRB2", "start": 63, "end": 68}], "disease": [{"text": "mild", "start": 123, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation.", "output": {"entities": {"gene": [{"text": "PTCH2", "start": 113, "end": 118}], "disease": [{"text": "congenital macrostomia", "start": 40, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTCH2", "start": 113, "end": 118}, "tail": {"text": "congenital macrostomia", "start": 40, "end": 62}}]}}, "schema": []}
{"input": "Rho family members are known to regulate malignant transformation and motility of cancer cells, but the clinicopathological significance of RhoC remains unclear yet in the case of gastric cancer.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 140, "end": 144}], "disease": [{"text": "gastric cancer", "start": 180, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "The ovarian histological findings suggest that ovarian cysts detected ultrasonographically in 46, XX individuals with STAR gene defects may be CL cysts.", "output": {"entities": {"gene": [{"text": "STAR gene", "start": 118, "end": 127}], "disease": [{"text": "cysts", "start": 55, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Two polymorphisms in IL-21, rs907715G/A and rs4833837A/G, were identified in 278 ischemic stroke patients and 282 healthy controls.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 21, "end": 26}], "disease": [{"text": "ischemic stroke", "start": 81, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to assess the influence of genetic variability of innate immune receptors (mannose-binding lectin [MBL], mannose-associated serine-protease-2 [MASP-2], and Toll-like receptors [TLR4]) in the risk of infections after a kidney transplantation.", "output": {"entities": {"gene": [{"text": "MASP", "start": 169, "end": 173}], "disease": [{"text": "infections", "start": 225, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Thus, these data suggest that bcl-2 expression occurs in cervical carcinoma cell lines in the absence of chromosomal translocation or rearrangement of the bcl-2 gene.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 155, "end": 165}], "disease": [{"text": "chromosomal translocation", "start": 105, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "CAD patients showed significantly higher frequencies of dyslipidemia and smoking (P < 0. 05) than controls, but no significant association was found between overall risk factors and the OLR1 polymorphism.", "output": {"entities": {"gene": [{"text": "OLR1", "start": 186, "end": 190}], "disease": [{"text": "smoking", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, Ang II increases Atox1 binding to the copper exporter ATP7A, which obtains copper from Atox1, as well as translocation of ATP7A to plasma membranes, where it colocalizes with SOD3.", "output": {"entities": {"gene": [{"text": "SOD3", "start": 188, "end": 192}], "disease": [{"text": "translocation", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In ED-treated mice, 4 weeks after METH treatment, we evaluated fear conditioning, depression-like responses in forced swim test, and the basal and METH-induced activity of AKT and GSK-3 & #946; in the ventral striatum.", "output": {"entities": {"gene": [{"text": "AKT", "start": 172, "end": 175}], "disease": [{"text": "depression", "start": 82, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKT", "start": 172, "end": 175}, "tail": {"text": "depression", "start": 82, "end": 92}}]}}, "schema": []}
{"input": "Weekly cisplatin, epirubicin, and paclitaxel with granulocyte colony-stimulating factor support vs triweekly epirubicin and paclitaxel in locally advanced breast cancer: final analysis of a sicog phase III study.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 50, "end": 87}], "disease": [{"text": "breast cancer", "start": 155, "end": 168}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 50, "end": 87}, "tail": {"text": "breast cancer", "start": 155, "end": 168}}]}}, "schema": []}
{"input": "Where absence of MMR proteins was detected, microsatellite instability and cytosine methylation of the respective gene promoter were analyzed.", "output": {"entities": {"gene": [{"text": "MMR", "start": 17, "end": 20}], "disease": [{"text": "microsatellite instability", "start": 44, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Repression of miR-17-5p with elevated expression of E2F-1 and c-MYC in non-metastatic hepatocellular carcinoma and enhancement of cell growth upon reversing this expression pattern.", "output": {"entities": {"gene": [{"text": "MYC", "start": 64, "end": 67}], "disease": [{"text": "metastatic hepatocellular carcinoma", "start": 75, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout.", "output": {"entities": {"gene": [{"text": "hypoxanthine guanine phosphoribosyltransferase", "start": 22, "end": 68}], "disease": [{"text": "Lesch-Nyhan syndrome", "start": 91, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hypoxanthine guanine phosphoribosyltransferase", "start": 22, "end": 68}, "tail": {"text": "Lesch-Nyhan syndrome", "start": 91, "end": 111}}]}}, "schema": []}
{"input": "Genotype status at the DRD2 intron 2 simple tandem repeat was related to cigarettes per day (P = 0. 035) and heaviness of smoking index (P = 0. 049).", "output": {"entities": {"gene": [{"text": "DRD2", "start": 23, "end": 27}], "disease": [{"text": "smoking", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "To explain this paradox, we tested whether in the absence of NQO1 ozone exposure results in increased generation of A (2)-isoprostane, a cyclopentenone isoprostane that blunts inflammation.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 61, "end": 65}], "disease": [{"text": "inflammation", "start": 176, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "The hearts of CD36-defective SHR exhibited uncoupling of glucose oxidation from its cellular entry, accompanied with the enhanced protein O-GlcNAcylation, suggesting increased glucose shunt through the HBP.", "output": {"entities": {"gene": [{"text": "HBP", "start": 202, "end": 205}], "disease": [{"text": "shunt", "start": 184, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "The immunohistochemical results demonstrate that high expression of CYP7B1 protein occurs in high-grade prostatic intraepithelial neoplasia (PIN) and adenocarcinomas.", "output": {"entities": {"gene": [{"text": "CYP7B1", "start": 68, "end": 74}], "disease": [{"text": "adenocarcinomas", "start": 150, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP7B1", "start": 68, "end": 74}, "tail": {"text": "adenocarcinomas", "start": 150, "end": 165}}]}}, "schema": []}
{"input": "Collectively, these studies indicate that podocyte VEGF-A regulates alpha (V) beta (3) integrin signaling in the glomerulus, and that podocyte VEGF knockdown disrupts alpha (V) beta (3) integrin activity via decreased VEGFR2 signaling, thereby damaging the three layers of the glomerular filtration barrier, causing proteinuria and acute renal failure.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 51, "end": 55}], "disease": [{"text": "acute renal failure", "start": 332, "end": 351}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "VEGF", "start": 51, "end": 55}, "tail": {"text": "acute renal failure", "start": 332, "end": 351}}]}}, "schema": []}
{"input": "Importantly, treatment of mice with either Pcpl or EpCAM antibody solution caused 80% mortality and/or haemorrhage, respectively, thus causing unacceptable toxicity.", "output": {"entities": {"gene": [{"text": "EpCAM", "start": 51, "end": 56}], "disease": [{"text": "haemorrhage", "start": 103, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Expression of SP-B,-C, and ABCA3 are coregulated during late gestation by transcriptional programs influenced by thyroid transcription factor-1 and forkhead box a2, transcription factors that regulate both differentiation of the respiratory epithelium and transcription of genes required for perinatal adaptation to air breathing.", "output": {"entities": {"gene": [{"text": "forkhead box a2", "start": 148, "end": 163}], "disease": [{"text": "breathing", "start": 320, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "Using homozygosity mapping followed by exome sequencing we identified an ST3GAL3 mutation in three infants with West syndrome.", "output": {"entities": {"gene": [{"text": "ST3GAL3", "start": 73, "end": 80}], "disease": [{"text": "West syndrome", "start": 112, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ST3GAL3", "start": 73, "end": 80}, "tail": {"text": "West syndrome", "start": 112, "end": 125}}]}}, "schema": []}
{"input": "Genetically engineered disulfide bonds in B-domain-deleted factor (F) VIII variants (C662-C1828 FVIII and C664-C1826 FVIII) improve FVIIIa stability by blocking A2 domain dissociation because the new disulfide covalently links the A2 and A3 domains in FVIIIa.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 96, "end": 101}], "disease": [{"text": "dissociation", "start": 171, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "CD2 + APL was associated significantly with leukocytosis (P =. 004), shorter complete remission duration (P =. 03), and a trend toward shorter overall survival (P =. 07) than CD2-APL.", "output": {"entities": {"gene": [{"text": "CD2", "start": 0, "end": 3}], "disease": [{"text": "leukocytosis", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 76, "end": 83}], "disease": [{"text": "EA-2", "start": 109, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 76, "end": 83}, "tail": {"text": "EA-2", "start": 109, "end": 113}}]}}, "schema": []}
{"input": "Inhibition of farnesoid X receptor controls esophageal cancer cell growth in vitro and in nude mouse xenografts.", "output": {"entities": {"gene": [{"text": "farnesoid X receptor", "start": 14, "end": 34}], "disease": [{"text": "esophageal cancer", "start": 44, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.", "output": {"entities": {"gene": [{"text": "CHD7", "start": 81, "end": 85}], "disease": [{"text": "CHARGE syndrome", "start": 115, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHD7", "start": 81, "end": 85}, "tail": {"text": "CHARGE syndrome", "start": 115, "end": 130}}]}}, "schema": []}
{"input": "An amplicon present in > 70% of the tumor samples at 20q11-20q13 contained several cancer-related genes (AHCY, POFUT1, RPN2, TH1L, and PRPF6) that were upregulated and demonstrated a significant linear correlation (P < 0. 05) for gene dosage and gene expression.", "output": {"entities": {"gene": [{"text": "RPN2", "start": 119, "end": 123}], "disease": [{"text": "cancer", "start": 83, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Human formyl peptide receptor 1 C32T SNP interacts with age and is associated with blood pressure levels.", "output": {"entities": {"gene": [{"text": "formyl peptide receptor 1", "start": 6, "end": 31}], "disease": [{"text": "blood pressure", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "TNF2, a polymorphism of the tumour necrosis-alpha gene promoter, is a component of the celiac disease major histocompatibility complex haplotype.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 44, "end": 54}], "disease": [{"text": "celiac disease", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 38, "end": 45}], "disease": [{"text": "episodic ataxia type 2", "start": 86, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 38, "end": 45}, "tail": {"text": "episodic ataxia type 2", "start": 86, "end": 108}}]}}, "schema": []}
{"input": "Sequence analysis of the amplified products has revealed a single missense mutation in SGLT1 which cosegregates with the GGM phenotype and results in a complete loss of Na (+)-dependent glucose transport in Xenopus oocytes injected with this complementary RNA.", "output": {"entities": {"gene": [{"text": "SGLT1", "start": 87, "end": 92}], "disease": [{"text": "GGM", "start": 121, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGLT1", "start": 87, "end": 92}, "tail": {"text": "GGM", "start": 121, "end": 124}}]}}, "schema": []}
{"input": "We conclude that DDX1 is a critical factor for testicular tumorigenesis.", "output": {"entities": {"gene": [{"text": "DDX1", "start": 17, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Sixty-four thymic epithelial neoplasms (27 cases of benign thymoma, 20 cases of invasive thymoma, and 17 cases of true thymic carcinoma) were studied for neoplastic epithelial cell expression of CD74 and MHC class II molecules by immunohistochemical staining of paraffin-embedded tissue.", "output": {"entities": {"gene": [{"text": "CD74", "start": 195, "end": 199}], "disease": [{"text": "invasive thymoma", "start": 80, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Transgenic simulation of human heart failure-like L-type Ca2 +-channels: implications for fibrosis and heart rate in mice.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 57, "end": 60}], "disease": [{"text": "heart rate", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Further, most of these genes had corresponding reduced expression levels in gastric cancer compared with intestinal metaplasia, including novel hypermethylated genes in gastric cancer (FLI1, GALR1, SGCE, and SNRPN), suggesting that they may regulate neoplastic transformation from non-malignant intestinal metaplasia to cancer.", "output": {"entities": {"gene": [{"text": "SNRPN", "start": 208, "end": 213}], "disease": [{"text": "neoplastic transformation", "start": 250, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "Patients have to be examined carefully for neuropsychological abnormalities, optic neuropathy, and signs of brain iron accumulation in MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 135, "end": 138}], "disease": [{"text": "optic neuropathy", "start": 77, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Abnormal aggregates of transactive response DNA-binding protein-43 (TDP-43) and its hyperphosphorylated and N-terminal truncated C-terminal fragments (CTFs) are deposited as major components of ubiquitinated inclusions in most cases of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitinated inclusions (FTLD-U).", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 44, "end": 63}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 236, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Arg16 allele of ADRB2 R16G, smoking and overeating were linked to an increased risk of obesity in adults.", "output": {"entities": {"gene": [{"text": "ADRB2", "start": 16, "end": 21}], "disease": [{"text": "overeating", "start": 40, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "In the discovery cohort, several LRP5 SNPs were associated with vertebral fractures (odds ratio (OR) 0. 67; P = 0. 01), with hip fractures (unadjusted ORs between 0. 59 and 1. 21; P = 0. 005-0. 033, but not significant after multiple test adjustment or age adjustment), and with height and the projected femoral neck area, but not with BMD.", "output": {"entities": {"gene": [{"text": "LRP5", "start": 33, "end": 37}], "disease": [{"text": "height", "start": 279, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "These findings implicate a novel gene and a novel mechanism in the etiology of MEB/WWS and expand the clinical spectrum of COL4A1-associated disorders.", "output": {"entities": {"gene": [{"text": "COL4A1", "start": 123, "end": 129}], "disease": [{"text": "WWS", "start": 83, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL4A1", "start": 123, "end": 129}, "tail": {"text": "WWS", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "Increased IP-10 levels in HCMV-positive BALF samples were significantly associated with severe airflow obstruction, as indicated by a decrease in forced expiratory volume in one second (FEV1).", "output": {"entities": {"gene": [{"text": "IP-10", "start": 10, "end": 15}], "disease": [{"text": "forced expiratory volume", "start": 146, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.", "output": {"entities": {"gene": [{"text": "FUS", "start": 6, "end": 9}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that induction of autophagy pathway is involved in the cellular response to mutant Seipin in seipinopathy and that motoneuron loss is a key pathogenic process underlying the development of locomotor abnormalities.", "output": {"entities": {"gene": [{"text": "Seipin", "start": 105, "end": 111}], "disease": [{"text": "abnormalities", "start": 221, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "The messenger RNA expression of UGT2B17 and myeloid cell leukemia-1 (Mcl-1) was significantly increased in EC tissues compared with matched normal endometrial tissues.", "output": {"entities": {"gene": [{"text": "UGT2B17", "start": 32, "end": 39}], "disease": [{"text": "leukemia", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization showed a split signal for RUNX1, which indicated that RUNX1 was involved in this translocation.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 61, "end": 66}], "disease": [{"text": "translocation", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Our experiment showed that the inhibition of TXS significantly induced the death or apoptosis in lung cancer cells.", "output": {"entities": {"gene": [{"text": "TXS", "start": 45, "end": 48}], "disease": [{"text": "lung cancer", "start": 97, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We investigated polymorphisms of the histamine H1 (HRH1) and muscarinic acetylcholine receptor M3 (CHRM3) receptor genes for an association with body mass index (BMI) and glycated hemoglobin (HbA1c).", "output": {"entities": {"gene": [{"text": "HRH1", "start": 51, "end": 55}], "disease": [{"text": "body mass index", "start": 145, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Continuous infusion is required for suppression of both thermal hyperalgesia and TRPV1 expression, because removal of NT-3 resulted in a prompt reestablishment of the hyperalgesic state and corresponding CCI-associated TRPV1 phenotype.", "output": {"entities": {"gene": [{"text": "NT-3", "start": 118, "end": 122}], "disease": [{"text": "thermal hyperalgesia", "start": 56, "end": 76}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NT-3", "start": 118, "end": 122}, "tail": {"text": "thermal hyperalgesia", "start": 56, "end": 76}}]}}, "schema": []}
{"input": "We further show that transgenic mice overexpressing the RCAN1-1L protein exhibit accumulation of hyperphosphorylated tau protein (AT8 antibody), an early precursor to the formation of neurofibrillary tangles and neurodegeneration of the kind seen in Alzheimer disease.", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 56, "end": 61}], "disease": [{"text": "neurofibrillary tangles", "start": 184, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) chromosomal translocation occurring in most follicular lymphomas can be exploited by a Bcl2/JH polymerase chain reaction (PCR) to detect residual disease and to monitor the effectiveness of ex-vivo tumor cell immunological purging.", "output": {"entities": {"gene": [{"text": "Bcl2", "start": 102, "end": 106}], "disease": [{"text": "chromosomal translocation", "start": 15, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that PBMC of recurrent cancer patients can produce HGF and that their sera may contain substances that induce HGF mRNA expression.", "output": {"entities": {"gene": [{"text": "HGF", "start": 74, "end": 77}], "disease": [{"text": "recurrent cancer", "start": 36, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Serum VEGF levels were not altered by either hypoxia or L-NAME infusion (P =. 348 O2 levels, P =. 205 L-NAME).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 6, "end": 10}], "disease": [{"text": "hypoxia", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that ischemia-mediated up-regulation of CHOP down-regulates cell surface GABAB receptors by preventing their trafficking from the ER to the plasma membrane.", "output": {"entities": {"gene": [{"text": "CHOP", "start": 64, "end": 68}], "disease": [{"text": "ischemia", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "MGMT methylation status, MGMT and CD133 expression profiles were assessed in 59 malignant glioma patients using methylation-specific polymerase chain reaction (MSP), and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "MSP", "start": 160, "end": 163}], "disease": [{"text": "malignant glioma", "start": 80, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Compared with asthma patients, eosinophils from CSS patients showed a significantly lower percentage of recombinant TRAIL, less autologous T cell-induced apoptosis, and decreased level of active caspase 3.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 195, "end": 204}], "disease": [{"text": "asthma", "start": 14, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "On the basis of the presence of transcription factor binding sequence in the promoters of differentially regulated genes (significant enrichment PE: 6 × 10 (5)) and the consistent expression of STAT3 (mRNA, P = 0. 0159 and Protein, P = 0. 0467), we hypothesize that unphosphorylated STAT3 may directly DNA bind and probably affect the genes that are involved in inflammation and late cerebral ischemia to influence the pathologic progression of SAH.", "output": {"entities": {"gene": [{"text": "SAH", "start": 445, "end": 448}], "disease": [{"text": "inflammation", "start": 362, "end": 374}]}, "relations": {}}, "schema": []}
{"input": "Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.", "output": {"entities": {"gene": [{"text": "CTC1 gene", "start": 96, "end": 105}], "disease": [{"text": "cysts", "start": 56, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that seizures caused cognitive dysfunction and a decrease of ChAT and AChE activities that might be related, at least in part, to the neurological problems presented by seizures induced by pilocarpine.", "output": {"entities": {"gene": [{"text": "AChE", "start": 91, "end": 95}], "disease": [{"text": "seizures", "start": 26, "end": 34}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AChE", "start": 91, "end": 95}, "tail": {"text": "seizures", "start": 26, "end": 34}}]}}, "schema": []}
{"input": "Furthermore, an HIF-2alpha-knockdown significantly increased Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3) expression in an HIF-1alpha-dependent manner.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 112, "end": 117}], "disease": [{"text": "adenovirus", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, bladder cancer cells express CXCR4 progressively with advanced tumorigenesis and this receptor interacts with CXCL12 to mediate tumor chemotaxis and invasion through connective tissue.", "output": {"entities": {"gene": [{"text": "CXCL12", "start": 125, "end": 131}], "disease": [{"text": "tumorigenesis", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Association of MiR-126 with soluble mesothelin-related peptides, a marker for malignant mesothelioma.", "output": {"entities": {"gene": [{"text": "MiR-126", "start": 15, "end": 22}], "disease": [{"text": "malignant mesothelioma", "start": 78, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MiR-126", "start": 15, "end": 22}, "tail": {"text": "malignant mesothelioma", "start": 78, "end": 100}}]}}, "schema": []}
{"input": "cx43 was studied in 38 cases of sporadic and familial heterotaxy.", "output": {"entities": {"gene": [{"text": "cx43", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Lysyl oxidase (LOX) has been reported to regulate tumor metastasis and has been found to involve in modification of extracellular matrix (ECM) in the context of tumorigenesis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 138, "end": 141}], "disease": [{"text": "tumorigenesis", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "If these were included, ovarian cancer (SMR 5. 16, 95% CI 1. 89-11. 24, P = 0. 001), invasive cervical cancer (SMR 4. 21, 95% CI 1. 15-10. 79, P = 0. 016), male breast cancer (SMR 290. 52, 95% CI 125. 42-572. 43, P < 0. 0001), and prostate cancer (SMR 2. 21, 95% CI 0. 89-4. 56, P = 0. 042) were significantly increased.", "output": {"entities": {"gene": [{"text": "SMR", "start": 40, "end": 43}], "disease": [{"text": "invasive cervical cancer", "start": 85, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Hypotrichosis with juvenile macular dystrophy (HJMD) (MIM 601553) is a rare disorder characterized by the paucity of hair and progressive macular degeneration leading to blindness.", "output": {"entities": {"gene": [{"text": "MIM", "start": 54, "end": 57}], "disease": [{"text": "macular degeneration", "start": 138, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In contrast, CIZ-deficient mice revealed suppression in such reduction of bone mass due to unloading.", "output": {"entities": {"gene": [{"text": "CIZ", "start": 13, "end": 16}], "disease": [{"text": "bone mass", "start": 74, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "TAF12, NFYC, and RAD54L co-located on human chromosome 1p32-35. 3 and mouse chromosome 4qD1-D3 were identified as oncogenes that are gained in tumors in both species and required for disease initiation and progression.", "output": {"entities": {"gene": [{"text": "TAF12", "start": 0, "end": 5}], "disease": [{"text": "tumors", "start": 143, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show, for the first time, that STIP is overexpressed in non-small cell lung cancer (NSCLC) tissues compared to adjacent normal lung tissues.", "output": {"entities": {"gene": [{"text": "STIP", "start": 49, "end": 53}], "disease": [{"text": "non-small cell lung cancer", "start": 74, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 39, "end": 45}], "disease": [{"text": "CLOVES syndrome", "start": 52, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIK3CA", "start": 39, "end": 45}, "tail": {"text": "CLOVES syndrome", "start": 52, "end": 67}}]}}, "schema": []}
{"input": "To date, autosomal-dominant mutations have been described in the ANO5 gene for gnathodiaphyseal dysplasia (GDD, OMIM: 166260), and multiple recessive mutations have been described in the gene for muscle dystrophies (OMIM: 613319, 611307); the same amino acid (Cys) at the position 356 is mutated in GDD.", "output": {"entities": {"gene": [{"text": "ANO5", "start": 65, "end": 69}], "disease": [{"text": "gnathodiaphyseal dysplasia", "start": 79, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ANO5", "start": 65, "end": 69}, "tail": {"text": "gnathodiaphyseal dysplasia", "start": 79, "end": 105}}]}}, "schema": []}
{"input": "In this work, we sought deeper insights into how NQO1 contributes to prostate carcinogenesis, a setting in which oxidative stress and inflammation are established contributors to disease development and progression.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 49, "end": 53}], "disease": [{"text": "inflammation", "start": 134, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "CTLA-4 polymorphisms in allergy and asthma and the TH1/TH2 paradigm.", "output": {"entities": {"gene": [{"text": "TH1", "start": 51, "end": 54}], "disease": [{"text": "asthma", "start": 36, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "TRIF (-/-) myocytes displayed a TLR4-dependent suppression of IFN-β, and pharmacological treatment of CVB3-infected TRIF (-/-) mice with murine IFN-β led to improved virus control and reduced cardiac inflammation.", "output": {"entities": {"gene": [{"text": "TRIF", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 200, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "We tested the efficacy of adenovirus-mediated gene transfer of LPL as treatment of experimental hyperlipidemias associated with apolipoprotein (apoE) deficiency (apoE-/-) and low-density lipoprotein receptor (LDLr) deficiency (LDLr-/-) in mice.", "output": {"entities": {"gene": [{"text": "LPL", "start": 63, "end": 66}], "disease": [{"text": "adenovirus", "start": 26, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "BIN1 genotypes were strongly related to atrophy of hippocampus (rs7561528: pc = 0. 011), CA1 (rs1469980: pc = 0. 029) and parahippocampus (rs72838284, pc = 0. 017) on MRI, and to glucose metabolism on FDG-PET, but not to Aβ deposition on AV45-PET imaging.", "output": {"entities": {"gene": [{"text": "CA1", "start": 89, "end": 92}], "disease": [{"text": "atrophy", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results indicate that downregulation of tumor suppressor miR-7 is a novel mechanism by which the inflammatory response promotes gastric tumorigenesis.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 79, "end": 84}], "disease": [{"text": "tumorigenesis", "start": 158, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "ARNTL, ARNTL2, VIP and ADCYAP1 were indicated as having influence on alcohol use or abuse.", "output": {"entities": {"gene": [{"text": "ARNTL2", "start": 7, "end": 13}], "disease": [{"text": "alcohol use", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "TNFR2 may play an important role in colonic inflammation-associated alteration in the intestinal epithelium.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 0, "end": 5}], "disease": [{"text": "inflammation", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "DPD expression levels appear to be associated with residual tumor categories and might serve as a molecular marker for complete tumor resection.", "output": {"entities": {"gene": [{"text": "DPD", "start": 0, "end": 3}], "disease": [{"text": "residual tumor", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "They presented common features associated to patients affected by SMBA, such as gynecomastia, high level of CPK, muscle cramps, fasciculations, muscle wastage, and impaired swallowing.", "output": {"entities": {"gene": [{"text": "CPK", "start": 108, "end": 111}], "disease": [{"text": "muscle cramps", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We suggest that respiratory alkalosis (hypocapnia) of Leigh syndrome patients with SURF1 mutations results from compulsory hyperventilation and speculate that hypocapnia may contribute to Leigh-like brain damage in the SURF1-deficient patients as well as in other patients presenting with Leigh-like syndrome.", "output": {"entities": {"gene": [{"text": "SURF1", "start": 83, "end": 88}], "disease": [{"text": "respiratory alkalosis", "start": 16, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The aim was to identify the functional role of endogenous IGF-I and alphaVbeta3 integrin ligands in regulating muscle cell hyperplasia in stricturing CD.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 58, "end": 63}], "disease": [{"text": "CD", "start": 150, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGF-I", "start": 58, "end": 63}, "tail": {"text": "CD", "start": 150, "end": 152}}]}}, "schema": []}
{"input": "Overall, our data confirm that SPG7 point mutations are rare causes of HSP, in both sporadic and familial forms, while underlying the puzzling and intriguing aspects of histological and biochemical consequences of paraplegin loss.", "output": {"entities": {"gene": [{"text": "paraplegin", "start": 214, "end": 224}], "disease": [{"text": "sporadic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Human colorectal, endometrial, and gastric cancers with defective DNA mismatch repair (MMR) have microsatellite instability, a unique molecular alteration characterized by widespread frameshift mutations of repetitive DNA sequences.", "output": {"entities": {"gene": [{"text": "MMR", "start": 87, "end": 90}], "disease": [{"text": "microsatellite instability", "start": 97, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Because blood clotting is common after plaque rupture, we hypothesized that RANKL influenced tissue factor (TF) expression and activity to initiate the coagulation cascade.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 76, "end": 81}], "disease": [{"text": "plaque", "start": 39, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "To explore whether HO-1 has a role in cardiac remodeling response, the effect of its overexpression on angiotensin II (Ang II)-induced cardiac hypertrophy was examined.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 103, "end": 117}], "disease": [{"text": "cardiac hypertrophy", "start": 135, "end": 154}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 103, "end": 117}, "tail": {"text": "cardiac hypertrophy", "start": 135, "end": 154}}]}}, "schema": []}
{"input": "Although Pin1 is frequently overexpressed in hepatocellular carcinoma (HCC), the molecular mechanism of Pin1 in HCC has not been completely elucidated.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 9, "end": 13}], "disease": [{"text": "hepatocellular carcinoma", "start": 45, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In a subset of ROR2-negative patients with BDB, clinically defined by the additional occurrence of proximal symphalangism and carpal synostosis, we identified six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG).", "output": {"entities": {"gene": [{"text": "ROR2", "start": 15, "end": 19}], "disease": [{"text": "proximal symphalangism", "start": 99, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetic analysis of B cell chronic lymphoid leukemias classified according to morphologic and immunophenotypic (FAB) criteria.", "output": {"entities": {"gene": [{"text": "FAB", "start": 116, "end": 119}], "disease": [{"text": "lymphoid leukemias", "start": 39, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The comprehensive evaluation of gene variation, haplotype structure, and linkage disequilibrium is important in understanding the function of beta2-adrenergic receptor gene (ADRbeta2) on disease susceptibility, pulmonary function, and therapeutic responses in different ethnic groups with asthma.", "output": {"entities": {"gene": [{"text": "beta2", "start": 142, "end": 147}], "disease": [{"text": "pulmonary function", "start": 211, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "ABHD9", "start": 47, "end": 52}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABHD9", "start": 47, "end": 52}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "IP (3)-sponge transgenic mice abrogated cardiac hypertrophy in response to isoproterenol and angiotensin II infusion but not pressure-overload stimulation.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 93, "end": 107}], "disease": [{"text": "cardiac hypertrophy", "start": 40, "end": 59}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 93, "end": 107}, "tail": {"text": "cardiac hypertrophy", "start": 40, "end": 59}}]}}, "schema": []}
{"input": "PD frequency was 7% in subjects without pancreatic disease, 7% in patients with alcohol-induced pancreatitis, and 5, 16, 16, and 47% in those with idiopathic, and PRSS1-, SPINK1-, and CFTR-associated pancreatitis, respectively (P < 0. 0001).", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 163, "end": 168}], "disease": [{"text": "pancreatic disease", "start": 40, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Presence of high-affinity AHR enhanced thymic atrophy and liver hypertrophy in the pups.", "output": {"entities": {"gene": [{"text": "AHR", "start": 26, "end": 29}], "disease": [{"text": "liver", "start": 58, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AHR", "start": 26, "end": 29}, "tail": {"text": "liver", "start": 58, "end": 63}}]}}, "schema": []}
{"input": "These results suggest that SOX2 maintains stem cell pluripotency by shuttling between the nucleus and cytoplasm in cooperation with OCT4 to prevent trophectoderm differentiation and polyploid formation in ES cells.", "output": {"entities": {"gene": [{"text": "OCT4", "start": 132, "end": 136}], "disease": [{"text": "polyploid", "start": 182, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Identification of PAH gene mutations responsible for PAH deficiency will therefore be useful in the prediction of biochemical and clinical phenotypes in HPA patients.", "output": {"entities": {"gene": [{"text": "PAH", "start": 18, "end": 21}], "disease": [{"text": "PAH deficiency", "start": 53, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAH", "start": 18, "end": 21}, "tail": {"text": "PAH deficiency", "start": 53, "end": 67}}]}}, "schema": []}
{"input": "Furthermore, the expression of the miR-200b gene targets ZEB1/2, GATA2, and KDR was confirmed by qRT-PCR as being lower in obese patients with periodontitis versus normal weight patients, suggesting a role of miR-200b in regulation of a set of gene targets and biological pathways relevant to wound healing and angiogenesis.", "output": {"entities": {"gene": [{"text": "ZEB1", "start": 57, "end": 61}], "disease": [{"text": "periodontitis", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Mitotic Arrest Deficient-Like 1 (MAD1L1), whose altered expression is associated with chromosomal instability, is a checkpoint gene.", "output": {"entities": {"gene": [{"text": "MAD1L1", "start": 33, "end": 39}], "disease": [{"text": "chromosomal instability", "start": 86, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Five genes were expressed at lower levels in unstable angina samples: anticoagulant protein S, cyclooxygenase (COX)-1, interleukin (IL)-7 and chemokines monocyte chemotactic protein (MCP)-1 and-2.", "output": {"entities": {"gene": [{"text": "COX", "start": 111, "end": 114}], "disease": [{"text": "unstable angina", "start": 45, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Considered together with recent evidence pertaining to weanling protein deficiency, these results permit the conclusion that the pIgR is a focal point of the impact exerted by metabolically diverse forms of protein-energy malnutrition on mucosal humoral immunocompetence.", "output": {"entities": {"gene": [{"text": "pIgR", "start": 129, "end": 133}], "disease": [{"text": "protein deficiency", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "A human study using patients with schizophrenia demonstrated an exacerbation of polydipsia by the administration of clonidine, an ADRA2A-agonist, and a relief of polydipsia by mianserin, an ADRA2A-antagonist, suggesting the involvement of the central adrenergic system in the drinking behavior of patients with schizophrenia.", "output": {"entities": {"gene": [{"text": "ADRA2A", "start": 130, "end": 136}], "disease": [{"text": "drinking behavior", "start": 276, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "The presence of hypoxic regions within an expanding tumor mass leads to upregulation of pro-angiogenic factors, such as vascular endothelial growth factor (VEGF), through increased activity of the transcriptional complex HIF-1 (hypoxia-inducible factor-1).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 156, "end": 160}], "disease": [{"text": "hypoxic", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Cough was likely to be due to a combination of denervation hypersensitivity of the upper airways and oesophagus, and prominent GOR.", "output": {"entities": {"gene": [{"text": "GOR", "start": 127, "end": 130}], "disease": [{"text": "hypersensitivity", "start": 59, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 18, "end": 32}], "disease": [{"text": "colobomatous microphthalmia", "start": 50, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Differential expression data were confirmed for 5 genes by semiquantitative RT-PCR in MCC tumors: GTF2H4, RBM12, UBE2D3, DDX17, and LZTS1.", "output": {"entities": {"gene": [{"text": "RBM12", "start": 106, "end": 111}], "disease": [{"text": "tumors", "start": 90, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Tenofovir disoproxil fumarate (TDF) may induce renal proximal tubulopathy (rPT).", "output": {"entities": {"gene": [{"text": "TDF", "start": 31, "end": 34}], "disease": [{"text": "proximal tubulopathy", "start": 53, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data suggest that type 2 diabetes and related insulin resistance manifest decreased VLDLR with elevated serum cholesterol and triglyceride levels, and overexpression of VLDLR through a single injection of rAAV · VLDLR reversed these effects and consequentially attenuated aorta atherosclerotic plaque progression.", "output": {"entities": {"gene": [{"text": "VLDLR", "start": 104, "end": 109}], "disease": [{"text": "insulin resistance", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We investigated MLH3' s role in endometrial tumorigenesis through analysis of tumor and germ line DNA from 57 endometrial cancer patients who were at increased risk for having inherited cancer susceptibility.", "output": {"entities": {"gene": [{"text": "MLH3' s", "start": 16, "end": 23}], "disease": [{"text": "tumorigenesis", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Deletions of one of these genes, DMRT1, lead to male-to-female sex reversal and are associated with development of gonadoblastoma.", "output": {"entities": {"gene": [{"text": "DMRT1", "start": 33, "end": 38}], "disease": [{"text": "sex reversal", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Transfection of an siRNA directed against LARP7 (anti-LARP7 siRNA) into non-neoplastic gastric epithelial cells decreased 7sk levels by 72% relative to a control siRNA (P < 0. 01).", "output": {"entities": {"gene": [{"text": "7sk", "start": 122, "end": 125}], "disease": [{"text": "non-neoplastic", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Both drugs blocked the hypoxia-induced expression of LOX and LOXL proteins, collagen cross-linking, CD11b ⁺ BMDC recruitment, and lung metastasis in an orthotopic breast cancer model.", "output": {"entities": {"gene": [{"text": "LOXL", "start": 61, "end": 65}], "disease": [{"text": "lung metastasis", "start": 130, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In this study, we analyzed the complex chromosomal translocation in one case with embryonal rhabdomyosarcoma by means of spectral karyotyping (SKY) and identified a novel translocation involving chromosome band 2q35, which is the locus of PAX3 gene.", "output": {"entities": {"gene": [{"text": "SKY", "start": 143, "end": 146}], "disease": [{"text": "translocation", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We found evidence that MMP-10 may be a mediator of the number of depressive phases during BD.", "output": {"entities": {"gene": [{"text": "MMP-10", "start": 23, "end": 29}], "disease": [{"text": "BD", "start": 90, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-10", "start": 23, "end": 29}, "tail": {"text": "BD", "start": 90, "end": 92}}]}}, "schema": []}
{"input": "Lentivirus carrying PCDH9 cDNA restored PCDH9 expression in the U87 and U251 glioma cell lines.", "output": {"entities": {"gene": [{"text": "U87", "start": 64, "end": 67}], "disease": [{"text": "glioma", "start": 77, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The results show that people with schizophrenia had significantly less PPIA and SDHA mRNA and tended to have less GUSB and B2M mRNA, suggesting that these control genes may not be good candidates for normalization.", "output": {"entities": {"gene": [{"text": "SDHA", "start": 80, "end": 84}], "disease": [{"text": "schizophrenia", "start": 34, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SDHA", "start": 80, "end": 84}, "tail": {"text": "schizophrenia", "start": 34, "end": 47}}]}}, "schema": []}
{"input": "Despite the proposed link between ablation of the CHOP protein and delay of the onset of ER stress-mediated disorders including diabetes, Alzheimer Disease, and cardiac hypertrophy, the role of CHOP protein in photoreceptor cell death associated with Autosomal Dominant Retinitis Pigmentosa (ADRP) has not been investigated.", "output": {"entities": {"gene": [{"text": "CHOP", "start": 50, "end": 54}], "disease": [{"text": "cardiac hypertrophy", "start": 161, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "In five B-CLLs and one MCL with deletion of one ATM allele, a point mutation in the remaining allele was detected, which resulted in aberrant transcript splicing, alteration, or truncation of the protein.", "output": {"entities": {"gene": [{"text": "ATM", "start": 48, "end": 51}], "disease": [{"text": "B-CLL", "start": 8, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 48, "end": 51}, "tail": {"text": "B-CLL", "start": 8, "end": 13}}]}}, "schema": []}
{"input": "The epithelial-mesenchymal transition (EMT) has a crucial role in normal and disease processes including tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 39, "end": 42}], "disease": [{"text": "tumor progression", "start": 105, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Multivariate regression revealed that EGFR mutation, adenocarcinoma histology, and HER2 expression were associated with EGFR expression, whereas female sex, EGFR mutation, and EGFR expression were associated with HER2 expression.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 38, "end": 42}], "disease": [{"text": "regression", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We therefore investigated the role of gene variants of tight junction protein (TJP1) which encodes another slit diaphragm-associated protein zona occludens 1 as risk factors for albuminuria in the San Antonio Family Diabetes/Gallbladder Study (SAFDGS), which consists of extended Mexican-American families with a high prevalence of type 2 diabetes.", "output": {"entities": {"gene": [{"text": "zona occludens 1", "start": 141, "end": 157}], "disease": [{"text": "albuminuria", "start": 178, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Polycystin-1 interacts with inositol 1, 4, 5-trisphosphate receptor to modulate intracellular Ca2 + signaling with implications for polycystic kidney disease.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 94, "end": 97}], "disease": [{"text": "polycystic kidney disease", "start": 132, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "To determine whether RNA interference (RNAi) could block hypoxia-induced upregulation of vascular endothelial growth factor (VEGF) in human corneal epithelial cells in vitro and inhibit and regress injury-induced murine corneal neovascularization in vivo.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 125, "end": 129}], "disease": [{"text": "hypoxia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.", "output": {"entities": {"gene": [{"text": "FZD2", "start": 22, "end": 26}], "disease": [{"text": "autosomal-dominant omodysplasia", "start": 33, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FZD2", "start": 22, "end": 26}, "tail": {"text": "autosomal-dominant omodysplasia", "start": 33, "end": 64}}]}}, "schema": []}
{"input": "Interestingly, this region only partially overlapped (approximately 5 cm) with our neuroblastoma SRO in region D1S508 to D1S244.", "output": {"entities": {"gene": [{"text": "SRO", "start": 97, "end": 100}], "disease": [{"text": "neuroblastoma", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we examined the progression of streptozotocin (STZ)-induced diabetic nephropathy in mice deficient in MCP-1 in order to explore the role of MCP-1-mediated macrophage accumulation in the development of diabetic kidney damage.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 113, "end": 118}], "disease": [{"text": "kidney damage", "start": 221, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "At the baseline of BMI, body weight, body fat, waist circumference, hip circumference, the arm skin fold, resting energy expenditure, or blood lipid and glucose profiles, there was no significant difference in participants with/without mutation of the beta (3) AR gene.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 261, "end": 268}], "disease": [{"text": "body weight", "start": 24, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Low helicase-like transcription factor expression correlated positively with French-American-British M4/M5 subtypes (P < 0. 0001) and complex cytogenetic abnormalities (P = 0. 02 for ≥ 3 abnormalities; P = 0. 004 for ≥ 5 abnormalities) but negatively with CEBPA double mutations (P = 0. 012).", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 256, "end": 261}], "disease": [{"text": "abnormalities", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "In individuals who drank > 30 g/d of alcohol, the CC genotype was associated with higher IL-6 levels, elevated CCA-IMT (P = 0. 001), and increased risk of carotid plaque (OR, 3. 64; 95% CI, 1. 15 to 11. 54; P = 0. 028).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 89, "end": 93}], "disease": [{"text": "plaque", "start": 163, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "VEGF was also induced in HUVEC under hypoxic conditions (P < 0. 05).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We provide evidence that EN2 is ectopically expressed in a subset of human breast cancer and may have a causal role in mammary tumorigenesis.", "output": {"entities": {"gene": [{"text": "EN2", "start": 25, "end": 28}], "disease": [{"text": "mammary tumorigenesis", "start": 119, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The development of diabetic complications is associated with increased oxidative stress which may damage DNA leading to the activation of nuclear enzyme poly (ADP-ribose) polymerase (PARP).", "output": {"entities": {"gene": [{"text": "PARP", "start": 183, "end": 187}], "disease": [{"text": "diabetic complications", "start": 19, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "However, we found that interleukin-8 (IL8), a potent chemoattractant for neutrophils, and sputum sol phase induced these LAD1 neutrophils to migrate through an endothelial cell layer in vitro, and confirmed that this migration was CD18-independent.", "output": {"entities": {"gene": [{"text": "IL8", "start": 38, "end": 41}], "disease": [{"text": "sol", "start": 97, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of hBCL-2 in bcl-2-/-mice rescues growth retardation, normalizes and protects the hematolymphoid system from gamma-radiation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 28, "end": 33}], "disease": [{"text": "growth retardation", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress.", "output": {"entities": {"gene": [{"text": "ACA11", "start": 78, "end": 83}], "disease": [{"text": "chromosomal translocation", "start": 28, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Genetic variation in plasma fibrinogen and the platelet receptor GP IIIa locus has been independently associated with increased risks of ischaemic heart disease, but there have been few reports on the relationship with peripheral arterial disease.", "output": {"entities": {"gene": [{"text": "GP IIIa", "start": 65, "end": 72}], "disease": [{"text": "ischaemic heart disease", "start": 137, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "A 28-year-old man whose estrogen resistance was caused by a disruptive mutation in the estrogen-receptor gene underwent studies of pituitary-gonadal function and bone density and received transdermal estrogen for six months.", "output": {"entities": {"gene": [{"text": "estrogen-receptor", "start": 87, "end": 104}], "disease": [{"text": "estrogen resistance", "start": 24, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "estrogen-receptor", "start": 87, "end": 104}, "tail": {"text": "estrogen resistance", "start": 24, "end": 43}}]}}, "schema": []}
{"input": "Two GPI-anchor proteins, CD55 and CD59, are complement regulatory proteins; their absence on the surface of PNH cells leads to complement-mediated hemolysis.", "output": {"entities": {"gene": [{"text": "GPI", "start": 4, "end": 7}], "disease": [{"text": "hemolysis", "start": 147, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "They seem to be relatively insensitive to the deleterious effects of PTH on bone mineral state, because raised concentrations of PTH were not associated with reduced bone mass.", "output": {"entities": {"gene": [{"text": "PTH", "start": 69, "end": 72}], "disease": [{"text": "bone mass", "start": 166, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "According to multivariate regression analysis, metabolic syndrome itself and waist circumference could be used, in addition to sex and age, as predictors of serum AGF level.", "output": {"entities": {"gene": [{"text": "AGF", "start": 163, "end": 166}], "disease": [{"text": "waist circumference", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Further, dietary TCDF inhibited the farnesoid X receptor (FXR) signaling pathway, triggered significant inflammation and host metabolic disorders as a result of activation of bacterial fermentation, and altered hepatic lipogenesis, gluconeogenesis, and glycogenolysis in an AHR-dependent manner.", "output": {"entities": {"gene": [{"text": "AHR", "start": 274, "end": 277}], "disease": [{"text": "inflammation", "start": 104, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AHR", "start": 274, "end": 277}, "tail": {"text": "inflammation", "start": 104, "end": 116}}]}}, "schema": []}
{"input": "We raise the possibility that genetically-driven variation in COMT may interact with childhood trauma to contribute to the risk of developing schizotypal personality traits.", "output": {"entities": {"gene": [{"text": "COMT", "start": 62, "end": 66}], "disease": [{"text": "personality traits", "start": 154, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Results of the present studies demonstrate a significant reduction in the B (max) value of [3H] cyclic AMP binding to the regulatory subunit of PKA in the supernatant fraction of fibroblasts from patients with major depression with no change in the K (d) values.", "output": {"entities": {"gene": [{"text": "AMP", "start": 103, "end": 106}], "disease": [{"text": "major depression", "start": 210, "end": 226}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 103, "end": 106}, "tail": {"text": "major depression", "start": 210, "end": 226}}]}}, "schema": []}
{"input": "Screening of clock gene polymorphisms demonstrates association of a PER3 polymorphism with morningness-eveningness preference and circadian rhythm sleep disorder.", "output": {"entities": {"gene": [{"text": "PER3", "start": 68, "end": 72}], "disease": [{"text": "circadian rhythm sleep disorder", "start": 130, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In our results, high Cdc20 and securin expression was associated with aneuploid DNA content.", "output": {"entities": {"gene": [{"text": "securin", "start": 31, "end": 38}], "disease": [{"text": "aneuploid", "start": 70, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We have identified 11 mutational changes in the PAX3 gene in patients with type 1 Waardenburg syndrome (WS1) including three in the paired domain, six within or immediately adjacent to the homeodomain and two previously described polymorphic variants in exons 2 and 6.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 48, "end": 52}], "disease": [{"text": "WS1", "start": 104, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX3", "start": 48, "end": 52}, "tail": {"text": "WS1", "start": 104, "end": 107}}]}}, "schema": []}
{"input": "Taken together, these studies provide the first data indicating that the ChlR1 helicase is essential for proper binding of the cohesin complex to both the centromere and the chromosome arms, and indicate that ChlR1 is essential for embryonic development and the prevention of aneuploidy in mammals.", "output": {"entities": {"gene": [{"text": "ChlR1", "start": 73, "end": 78}], "disease": [{"text": "aneuploidy", "start": 276, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "This is the first reported chromosomal translocation where AML1 is rearranged in childhood T-cell ALL.", "output": {"entities": {"gene": [{"text": "AML1", "start": 59, "end": 63}], "disease": [{"text": "chromosomal translocation", "start": 27, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "A middle-aged woman with recent-onset painful swollen fingers and widespread periostitis, elevated serum alkaline phosphatase (ALP) activity and erythrocyte sedimentation rate, and accelerated skeletal turnover was found not to have mutations in the gene sequences for exon 1 of receptor activator of nuclear factor-kappaB (RANK), osteoprotegerin (OPG), or sequestosome-1.", "output": {"entities": {"gene": [{"text": "RANK", "start": 324, "end": 328}], "disease": [{"text": "periostitis", "start": 77, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The neuropeptide Y (NPY) is a neuropeptide with a role in the regulation of satiety and energy balance of body weight, insulin release, cardiovascular and central endocrine systems.", "output": {"entities": {"gene": [{"text": "NPY", "start": 20, "end": 23}], "disease": [{"text": "body weight", "start": 106, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Ten ovarian cancer cell lines were analyzed by methylation-specific PCR, and seven (GPR150, LOC222171, PRTFDC1, LOC339210, ITGA8, C9orf64 and HOXD11) of the 33 CGIs were methylated in one or more of the cell lines.", "output": {"entities": {"gene": [{"text": "HOXD11", "start": 142, "end": 148}], "disease": [{"text": "ovarian cancer", "start": 4, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXD11", "start": 142, "end": 148}, "tail": {"text": "ovarian cancer", "start": 4, "end": 18}}]}}, "schema": []}
{"input": "Treatment of intractable pain with NP2 was well tolerated.", "output": {"entities": {"gene": [{"text": "NP2", "start": 35, "end": 38}], "disease": [{"text": "intractable pain", "start": 13, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "At 4 weeks of age, both TGF-alpha single transgenic and TGF-alpha/Bcl-2 double transgenic mice had elevated hepatocyte proliferation and increased liver: body weight ratios.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 66, "end": 71}], "disease": [{"text": "body weight", "start": 154, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The MLL-AF6 fusion transcript and the loss of one p53 allele were proven by chromosome painting, FISH and RT-PCR analysis in both SHI-1 cells and the primary leukemia cells.", "output": {"entities": {"gene": [{"text": "FISH", "start": 97, "end": 101}], "disease": [{"text": "leukemia", "start": 158, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "In addition to arterial pressure and insulin sensitivity (euglycaemic hyperinsulinaemic clamp), we measured the plasma concentration of leptin, insulin, cholesterol, triglycerides, free fatty acids, fibrinogen and uric acid in 10 to 12 week old eNOS-/-and wild type mice.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 245, "end": 249}], "disease": [{"text": "insulin sensitivity", "start": 37, "end": 56}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "eNOS", "start": 245, "end": 249}, "tail": {"text": "insulin sensitivity", "start": 37, "end": 56}}]}}, "schema": []}
{"input": "In this study, we provide evidence that the CNR1 gene may be associated with antipsychotic-induced weight gain in chronic schizophrenia patients.", "output": {"entities": {"gene": [{"text": "CNR1 gene", "start": 44, "end": 53}], "disease": [{"text": "chronic schizophrenia", "start": 114, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, NLC1-C, also known as long intergenic non-protein-coding RNA162 (LINC00162), was down-regulated in the cytoplasm and accumulated in the nucleus of spermatogonia and primary spermatocytes in the testes of infertile men with mixed patterns of MA compared with normal control.", "output": {"entities": {"gene": [{"text": "LINC00162", "start": 80, "end": 89}], "disease": [{"text": "infertile", "start": 219, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the safety and efficacy of a plasmid (VM202) containing two human hepatocyte growth factor isoforms given by intramuscular injections in patients with painful diabetic neuropathy.", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 78, "end": 102}], "disease": [{"text": "painful diabetic neuropathy", "start": 163, "end": 190}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "hepatocyte growth factor", "start": 78, "end": 102}, "tail": {"text": "painful diabetic neuropathy", "start": 163, "end": 190}}]}}, "schema": []}
{"input": "Wild-type mice undergoing pressure overload demonstrated extensive interstitial fibrosis that was prevented by HO-1 overexpression, yet HO-1 transgenic mice had reduced capillary density, contractile reserve, and elevated end-diastolic pressure.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 111, "end": 115}], "disease": [{"text": "diastolic pressure", "start": 226, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Targeted siRNA ablated HIF-1alpha and/or HIF-2alpha expression in MG-63 cells and reduced hypoxic secretion of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 111, "end": 115}], "disease": [{"text": "hypoxic", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Two novel stem cell factor (SCF) dependent human mast cell lines, designated LAD 1 and 2, were established from bone marrow aspirates from a patient with mast cell sarcoma/leukemia.", "output": {"entities": {"gene": [{"text": "SCF", "start": 28, "end": 31}], "disease": [{"text": "leukemia", "start": 172, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "65 obese patients undergoing gastric banding surgery were genotyped for LEP + 19A--> G, LEP-2548G--> C, IL6-174G--> C, APM1-11377C--> G and PM1-11391G--> A common SNPs.", "output": {"entities": {"gene": [{"text": "19A", "start": 78, "end": 81}], "disease": [{"text": "obese", "start": 3, "end": 8}]}, "relations": {}}, "schema": []}
{"input": "We observed that metformin and pioglitazone attenuated ovarian chemerin expression and improved insulin resistance and abnormal steroid production in PCO rats.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 63, "end": 71}], "disease": [{"text": "insulin resistance", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Laser-assisted microdissection was used to assess a genotype/phenotype correlation in single liver cells from HCC and from non-neoplastic hepatocytes.", "output": {"entities": {"gene": [{"text": "HCC", "start": 110, "end": 113}], "disease": [{"text": "non-neoplastic", "start": 123, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The evidence suggests that ANKRD7 and CYTL1 genes may play an important role in the variance in AD risk.", "output": {"entities": {"gene": [{"text": "ANKRD7", "start": 27, "end": 33}], "disease": [{"text": "AD", "start": 96, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANKRD7", "start": 27, "end": 33}, "tail": {"text": "AD", "start": 96, "end": 98}}]}}, "schema": []}
{"input": "Mutations in the GHRH receptor (GHRHR) gene (GHRHR) cause autosomal recessive isolated GH deficiency (IGHD), and are usually associated with anterior pituitary hypoplasia (APH) (defined as pituitary height more than 2 SDS below normal).", "output": {"entities": {"gene": [{"text": "APH", "start": 172, "end": 175}], "disease": [{"text": "height", "start": 199, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P & lt; 1 x 10 (-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3.", "output": {"entities": {"gene": [{"text": "SH2B3", "start": 184, "end": 189}], "disease": [{"text": "SLE", "start": 148, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SH2B3", "start": 184, "end": 189}, "tail": {"text": "SLE", "start": 148, "end": 151}}]}}, "schema": []}
{"input": "By in situ hybridization, KCNS3 mRNA levels were 23% lower in schizophrenia subjects.", "output": {"entities": {"gene": [{"text": "KCNS3", "start": 26, "end": 31}], "disease": [{"text": "schizophrenia", "start": 62, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCNS3", "start": 26, "end": 31}, "tail": {"text": "schizophrenia", "start": 62, "end": 75}}]}}, "schema": []}
{"input": "In available genome-wide association results from the Psychiatric Genomics Consortium we found that SNPs in CTNND2 collectively showed an increased signal for schizophrenia (P & #8201; & lt; & #8201; 1e (-5)) and major depressive disorder (P & #8201; & lt; & #8201; 1e (-5)), but not for bipolar disorder.", "output": {"entities": {"gene": [{"text": "CTNND2", "start": 108, "end": 114}], "disease": [{"text": "major depressive disorder", "start": 213, "end": 238}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTNND2", "start": 108, "end": 114}, "tail": {"text": "major depressive disorder", "start": 213, "end": 238}}]}}, "schema": []}
{"input": "The data also identified a myriad of JAK2 rearrangements, including a novel JAK2-NF-E2 interaction, JAK2 translocation to chromosomes 3, 4, 12, 14, and 21 and detection of the previously described rare TEL/ETV6-JAK2 translocation.", "output": {"entities": {"gene": [{"text": "NF-E2", "start": 81, "end": 86}], "disease": [{"text": "translocation", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of the characterization of SP-B-resistant cells and of the effect of overexpressed p21waf1/cip1 on the resistance or susceptibility of human leukemia cells to SP-B.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 52, "end": 56}], "disease": [{"text": "leukemia", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The study included 183 consecutive Chinese stroke patients after loading with clopidogrel 300 mg. Platelet function was assessed by adenosine diphosphate-induced (ADP 20 micromol/L) platelet aggregation and by light transmittance aggregometry (LTA) after seven 75-mg maintenance doses of clopidogrel before discharge.", "output": {"entities": {"gene": [{"text": "ADP", "start": 163, "end": 166}], "disease": [{"text": "stroke", "start": 43, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "MT1-MMP silencing by an shRNA-armed glioma-targeted conditionally replicative adenovirus (CRAd) improves its anti-glioma efficacy in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "MT1-MMP", "start": 0, "end": 7}], "disease": [{"text": "adenovirus", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Elevated systolic blood pressure (SBP) was associated with HLA-DRB1 * 09 and TNFa 117 alleles.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 59, "end": 67}], "disease": [{"text": "systolic blood pressure", "start": 9, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "However, overexpression of apolipoprotein A-I in animals has been shown to reduce progression and even induce regression of atherosclerosis, indicating that apolipoprotein A-I is directly protective against atherosclerosis.", "output": {"entities": {"gene": [{"text": "apolipoprotein A-I", "start": 27, "end": 45}], "disease": [{"text": "regression", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "However, the effect of elevated expression of CUL4A on hypoxia-reoxygenation injury is currently unclear.", "output": {"entities": {"gene": [{"text": "CUL4A", "start": 46, "end": 51}], "disease": [{"text": "hypoxia", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "This is the first mutation in Dubin-Johnson syndrome shown to cause deficient MRP2 maturation and impaired sorting of this glycoprotein to the apical membrane.", "output": {"entities": {"gene": [{"text": "MRP2", "start": 78, "end": 82}], "disease": [{"text": "Dubin-Johnson syndrome", "start": 30, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MRP2", "start": 78, "end": 82}, "tail": {"text": "Dubin-Johnson syndrome", "start": 30, "end": 52}}]}}, "schema": []}
{"input": "While miR-100 downregulates E-cadherin by targeting SMARCA5, a regulator of CDH1 promoter methylation, this miRNA suppresses tumorigenesis, cell movement and invasion in vitro and in vivo through direct targeting of HOXA1, a gene that is both oncogenic and pro-invasive, leading to repression of multiple HOXA1 downstream targets involved in oncogenesis and invasiveness.", "output": {"entities": {"gene": [{"text": "HOXA1", "start": 216, "end": 221}], "disease": [{"text": "tumorigenesis", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We carried out a study of adenosine deaminase (ADA) and MN blood group genetic polymorphisms in relation to past malarial morbidity in Sardinia and in relation to susceptibility to allergic asthma (a Th2 disorder) and Crohn' s disease (a Th1 disorder) in the population of Rome.", "output": {"entities": {"gene": [{"text": "Th1", "start": 238, "end": 241}], "disease": [{"text": "allergic asthma", "start": 181, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "A small percentage of GL261 cells were identified as CXCR3 (+), which was similar to the expression of CXCR3 in several grade IV human glioma cell lines (A172, T98G, U87, U118 and U138).", "output": {"entities": {"gene": [{"text": "U87", "start": 166, "end": 169}], "disease": [{"text": "glioma", "start": 135, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Depletion of FUS/TLS from the adult nervous system altered the levels or splicing of > 950 mRNAs, most of which are distinct from RNAs dependent on TDP-43.", "output": {"entities": {"gene": [{"text": "TLS", "start": 17, "end": 20}], "disease": [{"text": "nervous system", "start": 36, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "When the period of alcohol consumption increased, the positive rate of expression of hypoxia-inducible factor-1 alpha (HIF-1alpha) mRNA was more significantly elevated in the liver of the alcohol group than in the control group (P < or = 0. 05).", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 119, "end": 129}], "disease": [{"text": "alcohol consumption", "start": 19, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "This preliminary finding does not support the assumption that the presence of BRCA1 and BRCA2 mutations in some infertility patients treated by fertility drugs could explain the subsequent development of epithelial ovarian cancer in these women.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 78, "end": 83}], "disease": [{"text": "infertility", "start": 112, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to determine the correlation between TS-, TP-, and DPD-gene expression and the response to 5-FU-based long-term pre-operative chemoradiotherapy assessed by histopathological tumour regression.", "output": {"entities": {"gene": [{"text": "DPD", "start": 77, "end": 80}], "disease": [{"text": "regression", "start": 207, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Approximately 15% of small intestinal adenocarcinomas show inactivation of DNA-mismatch repair (MMR) and display high-level microsatellite instability (MSI-H).", "output": {"entities": {"gene": [{"text": "MMR", "start": 96, "end": 99}], "disease": [{"text": "microsatellite instability", "start": 124, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Proliferation of GNG2-overexpressed SK-Mel28 human malignant melanoma cells was suppressed with decreased c-SRC and AKT activities and increased p21 (Cip/WAF1) expression level in vitro.", "output": {"entities": {"gene": [{"text": "GNG2", "start": 17, "end": 21}], "disease": [{"text": "malignant melanoma", "start": 51, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined the sequential expression of MMP-2, MMP-9 and TIMP-1 in a rat model of pulmonary fibrosis induced by PQ.", "output": {"entities": {"gene": [{"text": "MMP-2", "start": 56, "end": 61}], "disease": [{"text": "pulmonary fibrosis", "start": 98, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-2", "start": 56, "end": 61}, "tail": {"text": "pulmonary fibrosis", "start": 98, "end": 116}}]}}, "schema": []}
{"input": "This study confirms that the dysferlin gene is mutated in MM and LGMD2B and extends understanding of the timing of onset of the disease.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 29, "end": 38}], "disease": [{"text": "MM", "start": 58, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dysferlin", "start": 29, "end": 38}, "tail": {"text": "MM", "start": 58, "end": 60}}]}}, "schema": []}
{"input": "We conclude that carriers of factor V Leiden who are family members of probands with this mutation have a statistically significant and clinically important risk of late miscarriage or stillbirth.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 29, "end": 44}], "disease": [{"text": "stillbirth", "start": 185, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.", "output": {"entities": {"gene": [{"text": "beta-hexosaminidase beta-subunit", "start": 57, "end": 89}], "disease": [{"text": "Sandhoff disease", "start": 137, "end": 153}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-hexosaminidase beta-subunit", "start": 57, "end": 89}, "tail": {"text": "Sandhoff disease", "start": 137, "end": 153}}]}}, "schema": []}
{"input": "TRPV1, SCN9A, and TAC1 were elevated in endometriosis lesions (P <. 05).", "output": {"entities": {"gene": [{"text": "SCN9A", "start": 7, "end": 12}], "disease": [{"text": "endometriosis", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "However, little is known about changes in BDNF in post-stroke depression (PSD).", "output": {"entities": {"gene": [{"text": "PSD", "start": 74, "end": 77}], "disease": [{"text": "stroke", "start": 55, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "At the molecular level, the translocation process arises from the illegitimate rearrangement between the BCL-2 proto-oncogene and the immunoglobulin heavy chain (IgH) locus.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 105, "end": 110}], "disease": [{"text": "translocation", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Proenkephalin mediates the enduring effects of adolescent cannabis exposure associated with adult opiate vulnerability.", "output": {"entities": {"gene": [{"text": "Proenkephalin", "start": 0, "end": 13}], "disease": [{"text": "cannabis", "start": 58, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Proenkephalin", "start": 0, "end": 13}, "tail": {"text": "cannabis", "start": 58, "end": 66}}]}}, "schema": []}
{"input": "This is the first example of RUNX1 chimera in an opposing direction generated by chromosomal translocation in leukemia.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 29, "end": 34}], "disease": [{"text": "chromosomal translocation", "start": 81, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "To widen the ethnic and age coverage of the FTO studies, we investigated the effects of FTO gene variants on being overweight and related phenotypes in Korean children and adult with a consideration of lifestyle factors.", "output": {"entities": {"gene": [{"text": "FTO gene", "start": 88, "end": 96}], "disease": [{"text": "overweight", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "BCL2/IgH translocation was analyzed in paraffin-embedded tissues from follicular lymphoma patients by using polymerase chain reaction (PCR) analysis of the major breakpoint region (MBR), the intermediate cluster region (ICR), and the minor cluster region.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Heterozygosity for GHRHR mutation causes changes in body composition and possibly an increase in insulin sensitivity, but its effects on bone quality are still unknown.", "output": {"entities": {"gene": [{"text": "GHRHR", "start": 19, "end": 24}], "disease": [{"text": "insulin sensitivity", "start": 97, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In addition, induction of oxidative stress with antimycin A inhibited Pax-3 expression and increased neural tube defects.", "output": {"entities": {"gene": [{"text": "Pax-3", "start": 70, "end": 75}], "disease": [{"text": "neural tube defects", "start": 101, "end": 120}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Pax-3", "start": 70, "end": 75}, "tail": {"text": "neural tube defects", "start": 101, "end": 120}}]}}, "schema": []}
{"input": "A strong correlation between the percent of stenosis of left anterior descending coronary artery and serum cathepsin L levels in patients with stenosis (R = 0. 542, p < 0. 0001), also suggests involvement of cathepsin L in these vascular diseases.", "output": {"entities": {"gene": [{"text": "cathepsin L", "start": 107, "end": 118}], "disease": [{"text": "stenosis", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the localization of AQP1 in the mouse heart and to determine the effects of ischemia and hypoxia on its expression.", "output": {"entities": {"gene": [{"text": "AQP1", "start": 61, "end": 65}], "disease": [{"text": "ischemia", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Methylation status and overexpression of COX-2 in Tunisian patients with ductal invasive breast carcinoma.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 41, "end": 46}], "disease": [{"text": "ductal invasive breast carcinoma", "start": 73, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 41, "end": 46}, "tail": {"text": "ductal invasive breast carcinoma", "start": 73, "end": 105}}]}}, "schema": []}
{"input": "MDL12, 330A, an adenylate cyclase inhibitor that lowers the levels of cAMP, increased expression of fibrosis-related proteins (mammalian target of rapamycin, SMA, plasminogen activator inhibitor type 1, and type I collagen), while the cAMP activator forskolin attenuated transforming growth factor beta-elicited fibrosing end points in the cardiac fibroblasts.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 127, "end": 156}], "disease": [{"text": "fibrosis", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "To investigate double strand break (DSB) repair and signaling in human glioma cells, we stably transfected human U87 (ATM (+), p53 (+)) glioma cells with a plasmid having a single I-SceI site within an inactive green fluorescent protein (GFP) expression cassette, allowing for the detection of homologous recombination repair (HRR) by GFP expression.", "output": {"entities": {"gene": [{"text": "U87", "start": 113, "end": 116}], "disease": [{"text": "glioma", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Our results show that VEGF expression varies widely between cell lines and that capacity to respond to hypoxia is also cell specific, relating mostly to the hypoxic sensing of the cell and the signal transduction mechanism.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 22, "end": 26}], "disease": [{"text": "hypoxic", "start": 157, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Further studies showed that, in Epo-R/TEPC cells, Epo neither induces the synthesis of erythroid-specific mRNA nor modifies the synthesis of gamma 1 lg heavy chain, suggesting that ectopic expression of the Epo-R in plasmacytoma cells does not modify their differentiative potential.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 152, "end": 163}], "disease": [{"text": "plasmacytoma", "start": 216, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses.", "output": {"entities": {"gene": [{"text": "CIB2", "start": 67, "end": 71}], "disease": [{"text": "DFNB48", "start": 183, "end": 189}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CIB2", "start": 67, "end": 71}, "tail": {"text": "DFNB48", "start": 183, "end": 189}}]}}, "schema": []}
{"input": "Our findings confirm that mutations in ATP2A2 are associated with DD.", "output": {"entities": {"gene": [{"text": "ATP2A2", "start": 39, "end": 45}], "disease": [{"text": "DD", "start": 66, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2A2", "start": 39, "end": 45}, "tail": {"text": "DD", "start": 66, "end": 68}}]}}, "schema": []}
{"input": "To evaluate the relevance of breast cancer subtypes for magnetic resonance imaging (MRI) markers for monitoring of therapy response during neoadjuvant chemotherapy (NAC).", "output": {"entities": {"gene": [{"text": "MRI", "start": 84, "end": 87}], "disease": [{"text": "breast cancer", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "It was observed that down regulation of Hsp60 in virally infected cells resulted into decrease in viral RNA copy number, plaque forming units and intracellular viral load.", "output": {"entities": {"gene": [{"text": "Hsp60", "start": 40, "end": 45}], "disease": [{"text": "viral load", "start": 160, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Whereas no difference in postprandial response were observed on classical markers of endothelial function, we did observe differences between consumption of a HF/HE and an average breakfast meal on blood pressure and IL-8 in young healthy volunteers.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 217, "end": 221}], "disease": [{"text": "blood pressure", "start": 198, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "In a case-control study, we identified 11 polymorphisms in the 5' flanking region of CYP2E1 in 228 schizophrenia patients and 384 healthy controls of Chinese Han origin.", "output": {"entities": {"gene": [{"text": "CYP2E1", "start": 85, "end": 91}], "disease": [{"text": "schizophrenia", "start": 99, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2E1", "start": 85, "end": 91}, "tail": {"text": "schizophrenia", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "Down-regulation of AKT1 and AKT2, but not AKT3, induced activation of cell surface β1-integrins and enhanced adhesion, migration, and invasion.", "output": {"entities": {"gene": [{"text": "AKT3", "start": 42, "end": 46}], "disease": [{"text": "adhesion", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Flow-cytometry analysis of TIL subset distribution revealed that the majority was composed of T lymphocytes, and double labeling with alpha-CD3 and adhesion/activation markers revealed T cell subsets expressing CD49a, CD49b, CD54, and CD15, each of which was almost absent in autologous T peripheral blood lymphocytes (T-PBL).", "output": {"entities": {"gene": [{"text": "CD49a", "start": 211, "end": 216}], "disease": [{"text": "adhesion", "start": 148, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS).", "output": {"entities": {"gene": [{"text": "TBXAS1", "start": 154, "end": 160}], "disease": [{"text": "Ghosal hematodiaphyseal dysplasia", "start": 38, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBXAS1", "start": 154, "end": 160}, "tail": {"text": "Ghosal hematodiaphyseal dysplasia", "start": 38, "end": 71}}]}}, "schema": []}
{"input": "We describe a newborn with clinical signs of severe hypothyroidism and combined pituitary hormone deficiency due to a new mutation in the PIT-1 gene.", "output": {"entities": {"gene": [{"text": "PIT-1", "start": 138, "end": 143}], "disease": [{"text": "pituitary hormone deficiency", "start": 80, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Affected members in Family D (KCNA1 G1210A) exhibit attacks typical of EA1.", "output": {"entities": {"gene": [{"text": "KCNA1", "start": 30, "end": 35}], "disease": [{"text": "EA1", "start": 71, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNA1", "start": 30, "end": 35}, "tail": {"text": "EA1", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "A whole genome expression analysis of peripheral blood mononuclear cells yielded 12 protein-coding genes (ADM, APBB3, CD160, CFD, CITED2, CTSZ, IER5, NFKBIZ, NR4A2, NUCKS1, SERTAD1, TNF) that were differentially expressed between 29 unmedicated depressed patients with a mood disorder (8 bipolar disorder, 21 major depressive disorder) and 24 healthy controls (HCs).", "output": {"entities": {"gene": [{"text": "SERTAD1", "start": 173, "end": 180}], "disease": [{"text": "mood disorder", "start": 271, "end": 284}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SERTAD1", "start": 173, "end": 180}, "tail": {"text": "mood disorder", "start": 271, "end": 284}}]}}, "schema": []}
{"input": "In contrast, reactive T lymphocytes from patients with non-neoplastic T-cell expansions and in vitro activated CD3 + or CD4 + normal T cells were found to coexpress CD40L and CD26.", "output": {"entities": {"gene": [{"text": "CD4", "start": 120, "end": 123}], "disease": [{"text": "non-neoplastic", "start": 55, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of AFT-3 also enhanced caspase-3 activity in both HOSE and OVCA cells, whereas ectopic expression of caveolin-1 and DLC-1 only activated this enzyme in OCa cells.", "output": {"entities": {"gene": [{"text": "caveolin-1", "start": 116, "end": 126}], "disease": [{"text": "OCa", "start": 167, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "caveolin-1", "start": 116, "end": 126}, "tail": {"text": "OCa", "start": 167, "end": 170}}]}}, "schema": []}
{"input": "Further molecular dissection of the ADRA1A gene warrants better understanding on weight gain mechanisms in schizophrenia.", "output": {"entities": {"gene": [{"text": "ADRA1A gene", "start": 36, "end": 47}], "disease": [{"text": "weight gain", "start": 81, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We found that BRD4 is critical for colon cancer proliferation, and its knockdown led to differentiation effects in vivo.", "output": {"entities": {"gene": [{"text": "BRD4", "start": 14, "end": 18}], "disease": [{"text": "colon cancer", "start": 35, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRD4", "start": 14, "end": 18}, "tail": {"text": "colon cancer", "start": 35, "end": 47}}]}}, "schema": []}
{"input": "The aims of this study were to determine the expression of miRNAs that bind to 3? UTR of HOXB13 and IL17BR in ER (+) BC patients and asess the effects of these miRNAs on recurrence/metastasis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 82, "end": 85}], "disease": [{"text": "metastasis", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "IL-20 transcripts increased in hypoxic monocytes and monocytes treated with oxidized low-density lipoprotein.", "output": {"entities": {"gene": [{"text": "IL-20", "start": 0, "end": 5}], "disease": [{"text": "hypoxic", "start": 31, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "We conclude that common genetic variation in ROCK2 is unlikely to make a major contribution to the risk of pre-eclampsia, but cannot exclude the possibility of having missed non-coding functional variants or rare coding variants.", "output": {"entities": {"gene": [{"text": "ROCK2", "start": 45, "end": 50}], "disease": [{"text": "pre-eclampsia", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Decreased serum estradiol levels and altered PRL secretion after TRH administration in infertile patients with minimal/mild endometriosis are related to ovulatory dysfunction and infertility in this group of patients without tubal occlusion.", "output": {"entities": {"gene": [{"text": "TRH", "start": 65, "end": 68}], "disease": [{"text": "mild", "start": 119, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Our objective is to detect and study microsatellite instability (MSI) and mismatch repair (MMR) gene germline mutation carriers among a Chinese population with colorectal cancer.", "output": {"entities": {"gene": [{"text": "MMR", "start": 91, "end": 94}], "disease": [{"text": "microsatellite instability", "start": 37, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "More recently, the usage of single nucleotide polymorphism arrays provided information of copy number neutral loss of heterozygosity, thus suggesting the occurrence of somatic uniparental disomy (UPD) and uniparental polysomy (UPP) events.", "output": {"entities": {"gene": [{"text": "UPP", "start": 227, "end": 230}], "disease": [{"text": "uniparental disomy", "start": 176, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "To test the association of ITPA polymorphisms rs1127354 and rs7270101 with hemoglobin (Hb) decline, need for RBV dose reduction (RBV DR), erythropoietin (EPO) support and blood transfusions during the first 12 weeks of TVR triple therapy.", "output": {"entities": {"gene": [{"text": "EPO", "start": 154, "end": 157}], "disease": [{"text": "hemoglobin", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "NCX1 full-length protein and a 75-kDa NCX1 fragment along with calpain were up-regulated in aortic stenosis patients and rats with heart failure.", "output": {"entities": {"gene": [{"text": "NCX1", "start": 0, "end": 4}], "disease": [{"text": "aortic stenosis", "start": 92, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "In a sixth family with none of the features of Albright' s osteodystrophy, N protein deficiency did not correlate with urinary cAMP responsiveness to PTH.", "output": {"entities": {"gene": [{"text": "Albright' s osteodystrophy", "start": 47, "end": 73}], "disease": [{"text": "protein deficiency", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Hyperekplexia (MIM #149400) is a rare neurological disorder characterized by an exaggerated startle response, infantile hypertonia and hyperreflexia without spasticity, a hesitant gait that usually improves by 3 years of age, and nocturnal myoclonus.", "output": {"entities": {"gene": [{"text": "MIM", "start": 15, "end": 18}], "disease": [{"text": "neurological disorder", "start": 38, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The PPARγ ligand rosiglitazone attenuates hypoxia-induced endothelin signaling in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 4, "end": 9}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In addition, the phenotypic features of patients with this CNV are consistent with a contiguous gene syndrome that extends beyond RCAD, which is caused by HNF1B mutations only.", "output": {"entities": {"gene": [{"text": "HNF1B", "start": 155, "end": 160}], "disease": [{"text": "contiguous gene syndrome", "start": 85, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Here we demonstrate that conditional inactivation of the Kif3a subunit of the kinesin-2 intraflagellar transport motor in mesenchymal skeletal progenitor cells results in severe patterning defects in the craniofacial area, the formation of split sternum and the development of polydactyly.", "output": {"entities": {"gene": [{"text": "Kif3a", "start": 57, "end": 62}], "disease": [{"text": "polydactyly", "start": 277, "end": 288}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Kif3a", "start": 57, "end": 62}, "tail": {"text": "polydactyly", "start": 277, "end": 288}}]}}, "schema": []}
{"input": "Here we show differential protein expression patterns in surviving human malignant U87-MG glioma cells under clinically relevant chemo/radiotherapy.", "output": {"entities": {"gene": [{"text": "U87", "start": 83, "end": 86}], "disease": [{"text": "glioma", "start": 90, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "MIR34A inhibition of HMGB1 leads to a decrease in autophagy under starvation conditions or chemotherapy treatment.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 21, "end": 26}], "disease": [{"text": "starvation", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results show increased H (2) O (2) levels and cellular redox imbalance associated to a higher p-ERK and AIF immunocontent, which would contribute to a maladaptive hypertrophy phenotype.", "output": {"entities": {"gene": [{"text": "ERK", "start": 116, "end": 119}], "disease": [{"text": "hypertrophy", "start": 183, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the activity of a luciferase reporter containing five copies of vascular endothelial growth factor (VEGF) promoter hypoxia-responsive element (5 × HRE) and the amount of secreted VEGF, were diminished in RUNX3-expressing but increased in RUNX3-knockdown cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 113, "end": 117}], "disease": [{"text": "hypoxia", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Low-HLJ1-expressing highly invasive CL1-5 lung adenocarcinoma cells were treated with various concentrations of DMSO.", "output": {"entities": {"gene": [{"text": "CL1", "start": 36, "end": 39}], "disease": [{"text": "lung adenocarcinoma", "start": 42, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In a multivariable regression model, CYP2C9, VKORC1 genotypes and age explained 55% of acenocoumarol dosing variability.", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 37, "end": 43}], "disease": [{"text": "regression", "start": 19, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "This elevation was clearly related to the presence of intestinal inflammation as it was less frequently observed in patients in remission (P = 0. 003 vs. active UC) whereas effective treatment resulted in disappearance or significant decrease of serum DcR3 (P = 0. 006 vs. pre-treatment).", "output": {"entities": {"gene": [{"text": "DcR3", "start": 252, "end": 256}], "disease": [{"text": "inflammation", "start": 65, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We provide additional evidence that, truncating and frameshifting mutations in the ASXL3 gene are the cause of a newly recognized disorder characterized by severe global developmental delay, short stature, microcephaly, and craniofacial anomalies.", "output": {"entities": {"gene": [{"text": "ASXL3 gene", "start": 83, "end": 93}], "disease": [{"text": "short stature", "start": 191, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Thus, targeting the angiocrine FGF4-FGFR1/Jag1-Notch2 loop inhibits LC aggressiveness and enhances chemosensitivity.", "output": {"entities": {"gene": [{"text": "Notch2", "start": 47, "end": 53}], "disease": [{"text": "aggressiveness", "start": 71, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Two genes, ARX (X-LAG; Partington syndrome) and MECP2 (Rett syndrome in females; mild MR with spastic diplegia/psychotic problems in males) are associated with various phenotypes, according to the mutation involved.", "output": {"entities": {"gene": [{"text": "LAG", "start": 18, "end": 21}], "disease": [{"text": "psychotic", "start": 111, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Thrombospondin-1 expression correlates with angiogenesis in experimental cirrhosis.", "output": {"entities": {"gene": [{"text": "Thrombospondin-1", "start": 0, "end": 16}], "disease": [{"text": "cirrhosis", "start": 73, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Thrombospondin-1", "start": 0, "end": 16}, "tail": {"text": "cirrhosis", "start": 73, "end": 82}}]}}, "schema": []}
{"input": "The objective of this study was to investigate the association between 61 SNPs in eight CHRN genes (CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2, CHRNB3, CHRNB4) and dizziness at first inhalation.", "output": {"entities": {"gene": [{"text": "CHRNB2", "start": 140, "end": 146}], "disease": [{"text": "inhalation", "start": 187, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.", "output": {"entities": {"gene": [{"text": "CYLD", "start": 29, "end": 33}], "disease": [{"text": "Brooke-Spiegler syndrome", "start": 51, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYLD", "start": 29, "end": 33}, "tail": {"text": "Brooke-Spiegler syndrome", "start": 51, "end": 75}}]}}, "schema": []}
{"input": "Estimated higher ratios of IFN-gamma/IL-10 and IFN-gamma/IL-12 were also observed in the symptomatic children while the asymptomatic controls had higher IL-12/IL-10 ratio.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 37, "end": 42}], "disease": [{"text": "asymptomatic", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Male and female wild-type, NPY (NPY (-/-)), PYY (PYY (-/-)) and NPY (-/-); PYY (-/-) double knockout mice were studied in the absence and presence of mild colitis induced by ingestion of dextran sulphate sodium (2%) in drinking water.", "output": {"entities": {"gene": [{"text": "PYY", "start": 44, "end": 47}], "disease": [{"text": "colitis", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "This study reports an association between the PNPLA3-I148M polymorphism and insulin resistance and NAFLD in a normoglycaemic population.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 46, "end": 52}], "disease": [{"text": "insulin resistance", "start": 76, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "], solute carrier family 1, member 6 [SLC1A6], F-box protein 7 [FBX07] and vacuole 14 protein homolog [VAC14]) distinguished most classes of fatigued subjects from healthy subjects, whereas others (patched homolog 2 [PTCH2] and T-cell leukemia/lymphoma [TCL1A]) differentiated specific fatigue classes.", "output": {"entities": {"gene": [{"text": "VAC14", "start": 103, "end": 108}], "disease": [{"text": "fatigue", "start": 141, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Here we showed that miR-221/222 inhibited cell apoptosis by targeting pro-apoptotic gene PUMA in human glioma cells.", "output": {"entities": {"gene": [{"text": "PUMA", "start": 89, "end": 93}], "disease": [{"text": "glioma", "start": 103, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the expression and DNA methylation of FBP1 in primary HCC and colon tumor.", "output": {"entities": {"gene": [{"text": "FBP1", "start": 60, "end": 64}], "disease": [{"text": "colon tumor", "start": 84, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FBP1", "start": 60, "end": 64}, "tail": {"text": "colon tumor", "start": 84, "end": 95}}]}}, "schema": []}
{"input": "The present study provides support for the existence of a neurocircuitry that connects changes in VGLUT2-mediated neurotransmission to alterations in the dopaminergic system with schizophrenia-like behavioral deficits as a major outcome.", "output": {"entities": {"gene": [{"text": "VGLUT2", "start": 98, "end": 104}], "disease": [{"text": "schizophrenia", "start": 179, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGLUT2", "start": 98, "end": 104}, "tail": {"text": "schizophrenia", "start": 179, "end": 192}}]}}, "schema": []}
{"input": "Despite the technological advantage of fluorescence in-situ hybridization on tissue microarray, which allows refining regions of amplification, we were not able to recognize any of the MYBL2, ZNF217, CYP24 and STK6 genes as a particular relevant gene for melanoma tumorigenesis.", "output": {"entities": {"gene": [{"text": "MYBL2", "start": 185, "end": 190}], "disease": [{"text": "melanoma", "start": 255, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.", "output": {"entities": {"gene": [{"text": "LARP7", "start": 29, "end": 34}], "disease": [{"text": "facial dysmorphism, intellectual disability, and primordial dwarfism", "start": 81, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LARP7", "start": 29, "end": 34}, "tail": {"text": "facial dysmorphism, intellectual disability, and primordial dwarfism", "start": 81, "end": 149}}]}}, "schema": []}
{"input": "A lack of K-Ras & lt; sup & gt; G12D & lt;/sup & gt;-induced premature senescence in caveolin-1-null mice results in the formation of more abundant lung tumors.", "output": {"entities": {"gene": [{"text": "caveolin-1", "start": 85, "end": 95}], "disease": [{"text": "lung tumors", "start": 148, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caveolin-1", "start": 85, "end": 95}, "tail": {"text": "lung tumors", "start": 148, "end": 159}}]}}, "schema": []}
{"input": "Possible explanations for this discrepancy include regulatory defects in the E-cadherin promoter, abnormalities at the translation or protein processing levels and mutations in other parts of the gene that were not investigated by the cDNA analysis (e. g.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 77, "end": 87}], "disease": [{"text": "abnormalities", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Northern analysis showed that the degree of TGF-beta1,-beta2,-beta3 mRNA expression varied considerably in melanoma cells, whereas TGF-beta expression was very low in melanocytes.", "output": {"entities": {"gene": [{"text": "beta3", "start": 62, "end": 67}], "disease": [{"text": "melanoma", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of ketone body and isoleucine catabolisms.", "output": {"entities": {"gene": [{"text": "Mitochondrial acetoacetyl-CoA thiolase", "start": 0, "end": 38}], "disease": [{"text": "T2) deficiency", "start": 40, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Mitochondrial acetoacetyl-CoA thiolase", "start": 0, "end": 38}, "tail": {"text": "T2) deficiency", "start": 40, "end": 54}}]}}, "schema": []}
{"input": "Chromosomal abnormalities commonly found using conventional cytogenetics and FISH are del (11) (q22-23), trisomy 12, del (13) (q14), and del (17) (p13).", "output": {"entities": {"gene": [{"text": "p13", "start": 147, "end": 150}], "disease": [{"text": "trisomy 12", "start": 105, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Here we found that in melanoma cells ET-1, ET-2, and ET-3 through ET (B) R, enhance the expression and activity of HIF-1alpha and HIF-2alpha that in turn regulate the expression of vascular endothelial growth factor (VEGF) in response to ETs or hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 217, "end": 221}], "disease": [{"text": "hypoxia", "start": 245, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.", "output": {"entities": {"gene": [{"text": "PC-1", "start": 214, "end": 218}], "disease": [{"text": "pachyonychia congenita", "start": 33, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Short stature homeobox-containing gene duplication on the der (X) chromosome in a female with 45, X/46, X, der (X), gonadal dysgenesis, and tall stature.", "output": {"entities": {"gene": [{"text": "Short stature homeobox", "start": 0, "end": 22}], "disease": [{"text": "tall stature", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Hexarelin suppressed the formation of atherosclerotic plaques and neointima, partially reversed serum HDL-c/LDL-c ratio and increased the levels of serum NO and aortic mRNAs of eNOS, GHSR and CD36 in As rats.", "output": {"entities": {"gene": [{"text": "CD36", "start": 192, "end": 196}], "disease": [{"text": "neointima", "start": 66, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "For example, juvenile idiopathic arthritis (JIA) is a TH1 disease, and bronchial asthma is a TH2 disease.", "output": {"entities": {"gene": [{"text": "TH1", "start": 54, "end": 57}], "disease": [{"text": "bronchial asthma", "start": 71, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: application to challenging pediatric renal stromal tumors.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 17, "end": 21}], "disease": [{"text": "cellular congenital mesoblastic nephroma", "start": 67, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Myocardin-dependent hypertrophy can also be partially repressed by histone deacetylase 5, a transcriptional repressor of myocardin.", "output": {"entities": {"gene": [{"text": "histone deacetylase 5", "start": 67, "end": 88}], "disease": [{"text": "hypertrophy", "start": 20, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the CB1 receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension.", "output": {"entities": {"gene": [{"text": "CB1", "start": 90, "end": 93}], "disease": [{"text": "hypotension", "start": 175, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB1", "start": 90, "end": 93}, "tail": {"text": "hypotension", "start": 175, "end": 186}}]}}, "schema": []}
{"input": "Top SNPs affecting glucose metabolism variables were as follows: fasting glucose, rs26125 (PPARGC1B); fasting insulin, rs4759277 (LRP1); C-peptide, rs4759277 (LRP1); homeostasis assessment of insulin resistance, rs4759277 (LRP1); quantitative insulin sensitivity check index, rs184003 (AGER); sensitivity index, rs7301876 (ABCC9), acute insulin response to glucose, rs290481 (TCF7L2); and disposition index, rs12691 (CEBPA).", "output": {"entities": {"gene": [{"text": "PPARGC1B", "start": 91, "end": 99}], "disease": [{"text": "insulin resistance", "start": 192, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "This translocation juxtaposes the BCL2 oncogene at 18q21 with the IGH @at 14q32, and leads to overexpression of BCL2 protein which protects the cells from apoptosis.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 34, "end": 38}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD.", "output": {"entities": {"gene": [{"text": "ACTA2", "start": 76, "end": 81}], "disease": [{"text": "Moyamoya disease", "start": 268, "end": 284}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACTA2", "start": 76, "end": 81}, "tail": {"text": "Moyamoya disease", "start": 268, "end": 284}}]}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) has an established role in promoting tumor progression and the acquisition of therapeutic resistance.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 77, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The patient described here presented with aggressive high-grade lymphocytic leukemia, FAB subtype L2 (ALL-L2), and three reciprocal translocations, t (14; 18) (q32; q21), t (8; 14) (q24. 1; q32), and t (1; 2) (q22-23; p13).", "output": {"entities": {"gene": [{"text": "FAB", "start": 86, "end": 89}], "disease": [{"text": "lymphocytic leukemia", "start": 64, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Incubation of isolated pancreatic acini with purified S100A8/A9-heterodimers resulted in a rapid dissociation of acinar cell-cell contacts which was highly calcium-dependent.", "output": {"entities": {"gene": [{"text": "S100A8", "start": 54, "end": 60}], "disease": [{"text": "dissociation", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Likewise, the induction of iNOS protein was observed in damaged proximal tubule epithelial cells of rats with HgCl2-induced ARF.", "output": {"entities": {"gene": [{"text": "iNOS", "start": 27, "end": 31}], "disease": [{"text": "ARF", "start": 124, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "iNOS", "start": 27, "end": 31}, "tail": {"text": "ARF", "start": 124, "end": 127}}]}}, "schema": []}
{"input": "AML1/MDS1/EVI1 (AME) is a chimeric transcription factor produced by the (3; 21) (q26; q22) translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Everolimus for women with trastuzumab-resistant, HER2-positive, advanced breast cancer (BOLERO-3): a randomised, double-blind, placebo-controlled phase 3 trial.", "output": {"entities": {"gene": [{"text": "HER2", "start": 49, "end": 53}], "disease": [{"text": "blind", "start": 120, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Animal studies have illustrated the importance of the expression in adipose tissue of the leptin receptor (OB-R), and of SOCS3 an inhibitor of the leptin signaling pathway, in body weight regulation.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 90, "end": 105}], "disease": [{"text": "body weight", "start": 176, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Orbital imaging in CFEOM1 due to various amino acid substitutions in the kinesin KIF21A demonstrates consistent abnormalities of motor and sensory innervation in the orbit.", "output": {"entities": {"gene": [{"text": "KIF21A", "start": 81, "end": 87}], "disease": [{"text": "abnormalities", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Task2 activation by reactive oxygen species generated during hypoxia could silence RTN neurons, thus contributing to respiratory depression.", "output": {"entities": {"gene": [{"text": "Task2", "start": 0, "end": 5}], "disease": [{"text": "depression", "start": 129, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "When leprosy types were divided, the allele frequency of TNF-308A was significantly increased in multibacillary leprosy compared to the normal controls (p = 0. 04, OR = 2. 93).", "output": {"entities": {"gene": [{"text": "TNF", "start": 57, "end": 60}], "disease": [{"text": "multibacillary leprosy", "start": 97, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We describe a novel GLMN mutation in an Italian family with GVM in which some members present with the less commonly observed phenotype of solitary lesions.", "output": {"entities": {"gene": [{"text": "GLMN", "start": 20, "end": 24}], "disease": [{"text": "GVM", "start": 60, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLMN", "start": 20, "end": 24}, "tail": {"text": "GVM", "start": 60, "end": 63}}]}}, "schema": []}
{"input": "Thus, in progressed tumors, areas of TGF-beta1 activation and hypoxia may overlap and hence cooperate to induce VEGF expression and angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 112, "end": 116}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, loss of Gfi-1 mimics SCA1 phenotypes in Purkinje cells.", "output": {"entities": {"gene": [{"text": "Gfi-1", "start": 23, "end": 28}], "disease": [{"text": "SCA1", "start": 36, "end": 40}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gfi-1", "start": 23, "end": 28}, "tail": {"text": "SCA1", "start": 36, "end": 40}}]}}, "schema": []}
{"input": "The chromosomal translocation t (3; 21) (q26; q22), which is found in blastic crisis in chronic myelogenous leukemias and myelodysplastic syndrome-derived leukemias, produces AML1/Evi-1 chimeric transcription factor and is thought to play important roles in acute leukemic transformation of hemopoietic stem cells.", "output": {"entities": {"gene": [{"text": "AML1", "start": 175, "end": 179}], "disease": [{"text": "chromosomal translocation", "start": 4, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "To examine whether polymorphisms within the ESR1, FSHR, ESR2, CYP19A1, and NRIP1 genes are susceptibility factors for human male idiopathic infertility and to test the joint effects of these genes on male reproductive function.", "output": {"entities": {"gene": [{"text": "NRIP1", "start": 75, "end": 80}], "disease": [{"text": "infertility", "start": 140, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Altogether, our results demonstrate, for the first time, the involvement of angiogenesis in ALK + ALCL and strongly suggest an important role for hypoxia-miR-16 in regulating VEGF translation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 175, "end": 179}], "disease": [{"text": "hypoxia", "start": 146, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "However, after 6 hours of hypoxic exposure, EPCs from SSc patients exhibited lower induced expression of VEGFR-1 at the messenger RNA and protein levels, but similar VEGF and VEGFR-2 expression, compared with HUVECs or EPCs from healthy controls.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 105, "end": 109}], "disease": [{"text": "hypoxic", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that induction of GADD45A expression might play a role in mediating the apoptotic response of ovarian cancer cells to the synthetic retinoid CD437.", "output": {"entities": {"gene": [{"text": "GADD45A", "start": 38, "end": 45}], "disease": [{"text": "ovarian cancer", "start": 114, "end": 128}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GADD45A", "start": 38, "end": 45}, "tail": {"text": "ovarian cancer", "start": 114, "end": 128}}]}}, "schema": []}
{"input": "We propose that KCNJ5 is a second gene causing Andersen-Tawil syndrome.", "output": {"entities": {"gene": [{"text": "KCNJ5", "start": 16, "end": 21}], "disease": [{"text": "Andersen-Tawil syndrome", "start": 47, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ5", "start": 16, "end": 21}, "tail": {"text": "Andersen-Tawil syndrome", "start": 47, "end": 70}}]}}, "schema": []}
{"input": "The results of the TRH test and the DST point to similar endocrinological patterns in alcoholics as in depressive patients and thus support the hypothesis of a link between alcoholism and depression.", "output": {"entities": {"gene": [{"text": "TRH", "start": 19, "end": 22}], "disease": [{"text": "depression", "start": 188, "end": 198}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 19, "end": 22}, "tail": {"text": "depression", "start": 188, "end": 198}}]}}, "schema": []}
{"input": "Localization of TSP-1, TGF-beta1,-beta2, and-beta3 was examined immunohistochemically in surgically resected glioma tissues, including 11 glioblastomas, six anaplastic astrocytomas, and eight astrocytomas.", "output": {"entities": {"gene": [{"text": "beta2", "start": 34, "end": 39}], "disease": [{"text": "astrocytomas", "start": 168, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Expression of GAD65 and GAD67 mRNA in the DLPFC and in the occipital cortex was significantly elevated in patients with schizophrenia, whereas the expression of the corresponding proteins and GAT-1 mRNA was unchanged.", "output": {"entities": {"gene": [{"text": "GAT", "start": 192, "end": 195}], "disease": [{"text": "schizophrenia", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We assessed the expression of apoptosis genes (GSK3-B, AKT-1, Bcl-2), inflammatory cytokines (TNFalpha, TNF-RI, TNF-RII, IL-6, IL-6R), anti-inflammatory IL-10, CRP and alphaFP by reverse transcription-polymerase chain reaction (RT-PCR) in 33 HCC, 25 chronic hepatitis and 16 asymptomatic HCV carrier positive for HCV subjects.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 153, "end": 158}], "disease": [{"text": "asymptomatic", "start": 275, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "Similar enhancement of VEGF expression by miR-181a was found during hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 23, "end": 27}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The cellular retinoic acid-binding protein II (CRABP-II), together with nuclear receptors such as the retinoid X receptor (RXR) and retinoic acid receptor (RAR), is involved in the transcriptional regulation of genes that control lipid metabolism via the retinoid signaling pathway and, as such, may be associated with disorders of lipid metabolism.", "output": {"entities": {"gene": [{"text": "RAR", "start": 156, "end": 159}], "disease": [{"text": "disorders of lipid metabolism", "start": 319, "end": 348}]}, "relations": {}}, "schema": []}
{"input": "To determine changes in expression and localization of TJ proteins during intestinal-barrier recovery, we induced intestinal ischemia-reperfusion injury in rats, measured mucosa-to-blood permeability of fluorescein isothiocyanate-dextran-4 kDa, and compared it with spatiotemporal changes of ZO-1, occludin, and claudin-1,-2,-3,-4, and-5 by immunoconfocal microscopy.", "output": {"entities": {"gene": [{"text": "ZO-1", "start": 292, "end": 296}], "disease": [{"text": "intestinal ischemia", "start": 114, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Both mRNA and protein levels of HIF-1alpha and VEGF were upregulated under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 47, "end": 51}], "disease": [{"text": "hypoxic", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "GRK2 mRNA and protein expression were evaluated in the lymphocytes of AD patients with mild or moderate/severe cognitive impairment and in age-matched healthy subjects.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 0, "end": 4}], "disease": [{"text": "mild", "start": 87, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Whilst follistatin expression is unchanged, FLRG is down-regulated in endometrial carcinoma.", "output": {"entities": {"gene": [{"text": "FLRG", "start": 44, "end": 48}], "disease": [{"text": "endometrial carcinoma", "start": 70, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The UHR + T group showed more social anhedonia and withdrawal, more bizarre thinking and a lower GAF score at baseline than the UHR + NT group.", "output": {"entities": {"gene": [{"text": "GAF", "start": 97, "end": 100}], "disease": [{"text": "social anhedonia", "start": 30, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37.", "output": {"entities": {"gene": [{"text": "SKIV2L", "start": 114, "end": 120}], "disease": [{"text": "syndromic diarrhea", "start": 165, "end": 183}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SKIV2L", "start": 114, "end": 120}, "tail": {"text": "syndromic diarrhea", "start": 165, "end": 183}}]}}, "schema": []}
{"input": "HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.", "output": {"entities": {"gene": [{"text": "HNF1B", "start": 0, "end": 5}], "disease": [{"text": "renal magnesium wasting", "start": 50, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HNF1B", "start": 0, "end": 5}, "tail": {"text": "renal magnesium wasting", "start": 50, "end": 73}}]}}, "schema": []}
{"input": "Heterozygous cells with known deleterious BRCA1 mutations (185delAG, C61G and R71G) demonstrated consistent phenotypes in radiation sensitivity and genomic instability assays, but showed variability in other assays.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 42, "end": 47}], "disease": [{"text": "genomic instability", "start": 148, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "High CXCR4 and CCR4 gene expression levels were detected in the giant papillae of all (CXCR4) and four out of five (CCR4) patients.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 5, "end": 10}], "disease": [{"text": "giant", "start": 64, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Aging and age-associated degenerative diseases, such as AMD, are intimately associated with decreased levels of tissue oxygenation and hypoxia that may induce accumulation of detrimental RPE-associated deposits, inflammation and neovascularization processes in retina.", "output": {"entities": {"gene": [{"text": "RPE", "start": 187, "end": 190}], "disease": [{"text": "hypoxia", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "ATP1A1 and Dear are candidate genes for 2 closely linked rat chromosome-2 blood pressure quantitative trait loci.", "output": {"entities": {"gene": [{"text": "ATP1A1", "start": 0, "end": 6}], "disease": [{"text": "blood pressure", "start": 74, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Tumors arise initially as avascular masses in which central hypoxia induces expression of vascular endothelial growth factor-A (VEGF-A) and subsequently tumor vascularization.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 128, "end": 134}], "disease": [{"text": "hypoxia", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Deguelin decreased expression of HIF-1alpha protein and its target genes, such as VEGF, in a subset of cancer cell lines, including H1299 lung cancer cells, and vascular endothelial cells in normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 82, "end": 86}], "disease": [{"text": "hypoxic", "start": 204, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that urocortin 3 (UCN3) and corticotropin-releasing hormone receptor 2 (CRHR2) are associated with IMCL and subcutaneous fat depth (SFD), because the corticotropin-releasing hormone family of peptides are capable of strong anorectic and thermogenic effects.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 68, "end": 84}], "disease": [{"text": "anorectic", "start": 239, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Ancient origin of the CTH alelle carrying the c. 200C & gt; T (p. T67I) variant in patients with cystathioninuria.", "output": {"entities": {"gene": [{"text": "CTH", "start": 22, "end": 25}], "disease": [{"text": "cystathioninuria", "start": 97, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTH", "start": 22, "end": 25}, "tail": {"text": "cystathioninuria", "start": 97, "end": 113}}]}}, "schema": []}
{"input": "DHPR deficiency, caused by mutations in the QDPR gene, results in hyperphenylalaninemia and deficiency of various neurotransmitters in the central nervous system, with severe neurological symptoms as a consequence.", "output": {"entities": {"gene": [{"text": "QDPR", "start": 44, "end": 48}], "disease": [{"text": "DHPR deficiency", "start": 0, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "QDPR", "start": 44, "end": 48}, "tail": {"text": "DHPR deficiency", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "Stable expression of truncated, hyperactive ASXL1-BAP1 complexes in a haematopoietic precursor cell line results in global erasure of H2AK119Ub, striking depletion of H3K27me3, selective upregulation of a subset of genes whose promoters are marked by both H2AK119Ub and H3K4me3, and spontaneous differentiation to the mast cell lineage.", "output": {"entities": {"gene": [{"text": "ASXL1", "start": 44, "end": 49}], "disease": [{"text": "hyperactive", "start": 32, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We evaluated vascular inflammation in wild-type and MRP-14-deficient (MRP-14 (-/-)) mice that lack MRP-8/14 complexes with experimental arterial injury, vasculitis, or atherosclerosis.", "output": {"entities": {"gene": [{"text": "MRP", "start": 52, "end": 55}], "disease": [{"text": "vasculitis", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Additional data suggest epigenetic molecular mechanisms in tumor specific regulation of LOXL2 expression that could be explored as a molecular target in the prevention of breast cancer progression.", "output": {"entities": {"gene": [{"text": "LOXL2", "start": 88, "end": 93}], "disease": [{"text": "breast cancer", "start": 171, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LOXL2", "start": 88, "end": 93}, "tail": {"text": "breast cancer", "start": 171, "end": 184}}]}}, "schema": []}
{"input": "Reassuringly, the autozygomes of all probands overlap on the same chr16q23. 1 locus, further supporting the positional mapping of MMCAT to ADAMTS18.", "output": {"entities": {"gene": [{"text": "ADAMTS18", "start": 139, "end": 147}], "disease": [{"text": "MMCAT", "start": 130, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS18", "start": 139, "end": 147}, "tail": {"text": "MMCAT", "start": 130, "end": 135}}]}}, "schema": []}
{"input": "The risk allele in SRR showed a trend toward a reduction of birthweight (P = 0. 085).", "output": {"entities": {"gene": [{"text": "SRR", "start": 19, "end": 22}], "disease": [{"text": "birthweight", "start": 60, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results support that PD2 is overexpressed in the ducts of PDAC tissues, and results in tumorigenesis and metastasis via upregulation of oncogenes such as c-Myc and cyclin hence D1 implicating PD2 upregulation in pancreatic oncogenesis with targeted therapeutic potential.", "output": {"entities": {"gene": [{"text": "PD2", "start": 41, "end": 44}], "disease": [{"text": "tumorigenesis", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "A novel threonine--& gt; proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens.", "output": {"entities": {"gene": [{"text": "keratin 2e", "start": 77, "end": 87}], "disease": [{"text": "ichthyosis bullosa of Siemens", "start": 97, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 2e", "start": 77, "end": 87}, "tail": {"text": "ichthyosis bullosa of Siemens", "start": 97, "end": 126}}]}}, "schema": []}
{"input": "Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.", "output": {"entities": {"gene": [{"text": "THAP1", "start": 17, "end": 22}], "disease": [{"text": "dystonia 6", "start": 99, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "THAP1", "start": 17, "end": 22}, "tail": {"text": "dystonia 6", "start": 99, "end": 109}}]}}, "schema": []}
{"input": "The effect of EIF4G1 on cell invasion and tumorigenesis were investigated.", "output": {"entities": {"gene": [{"text": "EIF4G1", "start": 14, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "To assess the validity of different objective and subjective parameters [soluble E-selectin (sE-selectin), soluble vascular cell adhesion molecule-1 (sVCAM-1), eosinophil cationic protein (ECP), urinary nitrate excretion (reflecting endogenous nitric oxide formation) and the patients' impressions of pruritus, sleeplessness and skin status] as markers of AD disease activity.", "output": {"entities": {"gene": [{"text": "ECP", "start": 189, "end": 192}], "disease": [{"text": "pruritus", "start": 301, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "Runx1-expressing SCs, but not other cells that ectopically upregulate Runx1 by injury and inflammation, are at the skin tumour origin.", "output": {"entities": {"gene": [{"text": "Runx1", "start": 0, "end": 5}], "disease": [{"text": "inflammation", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The t (12; 21) translocation, which generates the TEL-AML1 (ETV6-RUNX1) fusion gene, is the most common structural chromosome change in childhood cancer and is exclusively associated with the common B cell precursor subset of acute lymphoblastic leukemia (ALL).", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 65, "end": 70}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The late Victor McKusick considered the discovery of the KOP translocation, as he determined personally in Montana, one of the major transforming events in human genetics.", "output": {"entities": {"gene": [{"text": "KOP", "start": 57, "end": 60}], "disease": [{"text": "translocation", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In adolescents, IGF2 rs680 (A) was associated with higher glucose (P = 0. 012) and higher risk in overweight adolescents for altered insulin (OR = 10. 08, P = 0. 005) and homeostasis model of insulin resistance (HOMA-IR) (OR = 6. 34, P = 0. 010).", "output": {"entities": {"gene": [{"text": "IGF2", "start": 16, "end": 20}], "disease": [{"text": "insulin resistance", "start": 192, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Coal workers' pneumoconiosis (CWP) is the most common occupational disease in South Korea and is an important factor in the development of infections with Mycobacterium tuberculosis (MTB) and non-tuberculous mycobacteria (NTM).", "output": {"entities": {"gene": [{"text": "MTB", "start": 183, "end": 186}], "disease": [{"text": "occupational disease", "start": 54, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In this study, 199 patients with HBV-associated cirrhosis, 203 with HBV-associated HCC, and 184 healthy controls with no liver diseases were enrolled as participants.", "output": {"entities": {"gene": [{"text": "HCC", "start": 83, "end": 86}], "disease": [{"text": "liver diseases", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The CXCR3 chemokine receptor, a member of the CXCR family, has been linked to a pathological role in autoimmune disease, inflammatory disease, allograft rejection, and ischemia.", "output": {"entities": {"gene": [{"text": "CXCR3", "start": 4, "end": 9}], "disease": [{"text": "ischemia", "start": 168, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CXCR3", "start": 4, "end": 9}, "tail": {"text": "ischemia", "start": 168, "end": 176}}]}}, "schema": []}
{"input": "In conclusion, urinary exosomal miRNA content is altered in type 1 diabetic patients with incipient diabetic nephropathy and miR-145 may represent a novel candidate biomarker/player in the complication.", "output": {"entities": {"gene": [{"text": "miR-145", "start": 125, "end": 132}], "disease": [{"text": "diabetic nephropathy", "start": 100, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-145", "start": 125, "end": 132}, "tail": {"text": "diabetic nephropathy", "start": 100, "end": 120}}]}}, "schema": []}
{"input": "AKAP95 pathway and pantothenate and CoA biosynthesis were unique to MD.", "output": {"entities": {"gene": [{"text": "AKAP95", "start": 0, "end": 6}], "disease": [{"text": "MD", "start": 68, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKAP95", "start": 0, "end": 6}, "tail": {"text": "MD", "start": 68, "end": 70}}]}}, "schema": []}
{"input": "Thus, we analyzed 18 esophageal cancer cell lines for HIN-1 expression and methylation by reverse transcription PCR (RT-PCR) and methylation specific PCR (MSP).", "output": {"entities": {"gene": [{"text": "MSP", "start": 155, "end": 158}], "disease": [{"text": "esophageal cancer", "start": 21, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Eight patients had no evidence of myocardial ischaemia, as measured by electrocardiographic and/or echocardiographic criteria, during dipyridamole infusion: among them, ANF values were similar while they were at rest and at peak dipyridamole administration (23. 9 +/-9. 5 vs 23. 4 +/-6. 9 pg ml-1, P = ns).", "output": {"entities": {"gene": [{"text": "ANF", "start": 169, "end": 172}], "disease": [{"text": "myocardial ischaemia", "start": 34, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "To test this hypothesis, human pulmonary artery endothelial cells (HPAECs) were exposed to normoxia or hypoxia (1% O (2)) for 72 h and treated with or without the PPARγ ligand rosiglitazone (RSG, 10 μM) during the final 24 h of exposure.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 163, "end": 168}], "disease": [{"text": "hypoxia", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, by antagonizing the influence of TGF-beta in brain tissue subjected to excitotoxic or ischemic lesion, the authors markedly exacerbated the resulting extent of necrosis.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 48, "end": 56}], "disease": [{"text": "necrosis", "start": 175, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p & lt; 0. 05), EOTAXIN (p & lt; 0. 01), RANTES (p & lt; 0. 001), and in MM patients: IL-12 (p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "TNF-beta", "start": 221, "end": 229}], "disease": [{"text": "MM", "start": 160, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF-beta", "start": 221, "end": 229}, "tail": {"text": "MM", "start": 160, "end": 162}}]}}, "schema": []}
{"input": "HZ-6d targeted HERC5 to regulate p53 ISGylation in human hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "HERC5", "start": 15, "end": 20}], "disease": [{"text": "hepatocellular carcinoma", "start": 57, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HERC5", "start": 15, "end": 20}, "tail": {"text": "hepatocellular carcinoma", "start": 57, "end": 81}}]}}, "schema": []}
{"input": "Taken together, the results of our study suggest that SIRT7 is involved in protecting neurons against OGD/R-induced injury, possibly through regulation of the p53-mediated proapoptotic signaling pathway, indicating a potential therapeutic target for cerebral ischemia/reperfusion injury.", "output": {"entities": {"gene": [{"text": "SIRT7", "start": 54, "end": 59}], "disease": [{"text": "ischemia/reperfusion injury", "start": 259, "end": 286}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT7", "start": 54, "end": 59}, "tail": {"text": "ischemia/reperfusion injury", "start": 259, "end": 286}}]}}, "schema": []}
{"input": "Immunohistochemical analysis of UCN was performed in 112 surgical specimens (21 normal gastric mucosa specimens and 91 gastric adenocarcinoma specimens varying in histologic grade and pathologic stage).", "output": {"entities": {"gene": [{"text": "UCN", "start": 32, "end": 35}], "disease": [{"text": "gastric adenocarcinoma", "start": 119, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The crypt isolation technique coupled with DNA cytometric sorting and polymerase chain reaction assay using 10 microsatellite markers tightly linked to the ATM gene were used to study ATM allelic imbalance in 55 colorectal carcinomas (15 diploid, 13 aneuploid, 27 multiploid).", "output": {"entities": {"gene": [{"text": "ATM", "start": 156, "end": 159}], "disease": [{"text": "aneuploid", "start": 250, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Sixteen variants were identified (3 in ENPP1 and 13 in TNAP) and were subsequently genotyped in 128 sporadic Caucasian CPPD CC patients and 600 healthy controls using a combination of polymerase chain reaction/restriction fragment-length polymorphism analysis or using Taqman.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 39, "end": 44}], "disease": [{"text": "sporadic", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Down-regulation of plakoglobin in soft tissue sarcoma is associated with a higher risk of pulmonary metastasis.", "output": {"entities": {"gene": [{"text": "plakoglobin", "start": 19, "end": 30}], "disease": [{"text": "pulmonary metastasis", "start": 90, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In 12 patients the cause was clarified. Diagnoses included Drash syndrome with Wilms tumor in infancy (3 patients), partial androgen insensitivity resulting from androgen receptor mutations (2), true hermaphroditism (2), chromosomal aberration (1), deficiency of antim & #252; llerian hormone (1), gonadal dysgenesis (1), partial 5 alpha-reductase deficiency caused by a novel point mutation (1), and XX-male syndrome (1).", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 162, "end": 179}], "disease": [{"text": "partial androgen insensitivity", "start": 116, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 162, "end": 179}, "tail": {"text": "partial androgen insensitivity", "start": 116, "end": 146}}]}}, "schema": []}
{"input": "In an attempt to dissect the role played by mGluR2 and mGluR3 in cue-induced reinstatement, we analyzed the mRNA expression patterns in several relevant brain areas but did not find any significant differences between cocaine addict-like and non-addict-like rats, suggesting that the behavioral differences observed are due to translational rather than transcriptional regulation.", "output": {"entities": {"gene": [{"text": "mGluR2", "start": 44, "end": 50}], "disease": [{"text": "cocaine addict", "start": 218, "end": 232}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR2", "start": 44, "end": 50}, "tail": {"text": "cocaine addict", "start": 218, "end": 232}}]}}, "schema": []}
{"input": "We investigated the effects of COX and NOS inhibitors on the healing of duodenal ulcers, in comparison with gastric ulcers, in rats.", "output": {"entities": {"gene": [{"text": "NOS", "start": 39, "end": 42}], "disease": [{"text": "gastric ulcers", "start": 108, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS", "start": 39, "end": 42}, "tail": {"text": "gastric ulcers", "start": 108, "end": 122}}]}}, "schema": []}
{"input": "Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).", "output": {"entities": {"gene": [{"text": "PROP1", "start": 42, "end": 47}], "disease": [{"text": "pituitary hormone deficiency", "start": 104, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Biodistribution studies reported here, using 131I-labeled cCC49 delta CH1 and 125I-labeled cCC49 in athymic mice bearing human colon carcinoma xenografts, demonstrated that both cMAbs localized to the tumor and cleared from the normal tissues similarly.", "output": {"entities": {"gene": [{"text": "CH1", "start": 70, "end": 73}], "disease": [{"text": "colon carcinoma", "start": 127, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that cyclin I and GDI2 may be potential molecular targets for pancreatic cancer diagnostics and therapeutics.", "output": {"entities": {"gene": [{"text": "GDI2", "start": 41, "end": 45}], "disease": [{"text": "pancreatic cancer", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "FISH analyses showed three cases with more than one rearrangement: one MYC/BCL2 and two BCL2/BCL6, in addition to which one case with BCL2/IGH translocation and another with MYC rearrangement were also detected.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 75, "end": 79}], "disease": [{"text": "translocation", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The tumor suppressor adenomatous polyposis coli (APC) is an essential negative regulator of Wnt signaling through its activity in the destruction complex with Axin, GSK3β, and CK1 that targets β-catenin/Armadillo (β-cat/Arm) for proteosomal degradation.", "output": {"entities": {"gene": [{"text": "CK1", "start": 176, "end": 179}], "disease": [{"text": "adenomatous polyposis coli", "start": 21, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "FGF20", "start": 155, "end": 160}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF20", "start": 155, "end": 160}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Expression of HMP/AN2, a melanoma associated antigen, in murine cerebral gliomas: potential for radioimmunotargeting.", "output": {"entities": {"gene": [{"text": "HMP", "start": 14, "end": 17}], "disease": [{"text": "melanoma", "start": 25, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The regulation of RhoA on p53, the p53 binding protein homolog murine double minute 2 (MDM2), and VEGF was analyzed in hypoxic MCF-7 cells using Western blot analysis, real-time polymerase chain reaction (PCR) analysis, coimmunoprecipitation, and immunofluorescence staining assays.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 98, "end": 102}], "disease": [{"text": "hypoxic", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Association of rheumatoid arthritis with Kartagener' s syndrome in a patient with HLA-DR1-DR4-B27 haplotype.", "output": {"entities": {"gene": [{"text": "B27", "start": 94, "end": 97}], "disease": [{"text": "rheumatoid arthritis", "start": 15, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Hence, we propose that downregulation in the expression of the PCFT and the RFC in colon results in reduced levels of these transporters in colon apical membrane LR as a mechanism of folate malabsorption during chronic alcoholism.", "output": {"entities": {"gene": [{"text": "PCFT", "start": 63, "end": 67}], "disease": [{"text": "chronic alcoholism", "start": 211, "end": 229}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PCFT", "start": 63, "end": 67}, "tail": {"text": "chronic alcoholism", "start": 211, "end": 229}}]}}, "schema": []}
{"input": "Inherited isolated nail anomaly manifesting with onychauxis and onycholysis is a rare condition, caused by mutations in the gene FZD6, encoding membrane-bound Wnt receptor protein.", "output": {"entities": {"gene": [{"text": "Wnt receptor", "start": 159, "end": 171}], "disease": [{"text": "onycholysis", "start": 64, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Five young, obese individuals (body mass index [BMI] 33 to 45 kg/m2, age 14 to 30 years); five adult, lean individuals (BMI 20 to 26 kg/m2, age 39 to 65 years); and five sibling pairs sharing no alleles that were identical by descent at a marker locus proximal to NPY were selected for fluorescence-based sequencing of approximately 1100 base pairs (bp) immediately 5' from the start site and all four exons of NPY.", "output": {"entities": {"gene": [{"text": "NPY", "start": 264, "end": 267}], "disease": [{"text": "body mass index", "start": 31, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The TCR delta gene was deleted in 22 cases and was in the germline configuration in 13 lymphomas.", "output": {"entities": {"gene": [{"text": "TCR delta gene", "start": 4, "end": 18}], "disease": [{"text": "lymphomas", "start": 87, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "One of the key functions of CHC was to bind with the hypoxia-inducing factor (HIF)-1α protein, increasing the stability of this protein and facilitating its nuclear translocation, thereby regulating the expression of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 217, "end": 221}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The severity of DSS-induced colitis, assessed by colonic myeloperoxidase content, was attenuated in NPY (-/-) but not PYY (-/-) mice.", "output": {"entities": {"gene": [{"text": "PYY", "start": 118, "end": 121}], "disease": [{"text": "colitis", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the possible role of adenosine deaminase (ADA) genetic polymorphism in human fertility through a comparative study of couples with recurrent spontaneous abortion (RSA) and healthy puerperae.", "output": {"entities": {"gene": [{"text": "ADA", "start": 63, "end": 66}], "disease": [{"text": "recurrent spontaneous abortion", "start": 152, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "When tumor cells are exposed to hypoxia, hypoxia-inducible factor-1alpha (HIF-1alpha) is stabilized and activated to promote the transcription of several genes such as vascular endothelial growth factor (VEGF), but in the presence of E1A hypoxia-induced VEGF m-RNA synthesis is inhibited by E1A binding to p300.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 204, "end": 208}], "disease": [{"text": "hypoxia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Here we show that the expression of EphA2 in in vitro cultured cells, is restricted to cells growing adherently and that adhesion-induced EphA2 expression is dependent upon activation of the epidermal growth factor receptor (EGFR), mitogen activated protein kinase kinase (MEK) and Src family kinases (SRC).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 225, "end": 229}], "disease": [{"text": "adhesion", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Reconstituted HDL infusions act in an ABCG4-dependent fashion to limit hypercholesterolemia-driven excessive platelet production, thrombosis, and atherogenesis, as occurs in human myeloproliferative syndromes.", "output": {"entities": {"gene": [{"text": "ABCG4", "start": 38, "end": 43}], "disease": [{"text": "atherogenesis", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We searched all the publications about the association between CTLA-4) promoter exon-1 + 49 and 1722T/C polymorphism and SLE from PubMed, Elsevier Science Direct, Chinese Biomedical Literature Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang (Chinese).", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 63, "end": 69}], "disease": [{"text": "SLE", "start": 121, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTLA-4", "start": 63, "end": 69}, "tail": {"text": "SLE", "start": 121, "end": 124}}]}}, "schema": []}
{"input": "These data provide critical information for AC5 activation as a candidate target for the treatment of alcoholism.", "output": {"entities": {"gene": [{"text": "AC5", "start": 44, "end": 47}], "disease": [{"text": "alcoholism", "start": 102, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AC5", "start": 44, "end": 47}, "tail": {"text": "alcoholism", "start": 102, "end": 112}}]}}, "schema": []}
{"input": "Pressure stimulated translocation of AKT1, but not AKT2 to the plasma membrane.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 37, "end": 41}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Based on the clinical data, we analyzed the clinical value of varied NER genes and smoking in 219 bladder cancers by the Kaplan-Meier method and Cox proportional hazards regression.", "output": {"entities": {"gene": [{"text": "NER", "start": 69, "end": 72}], "disease": [{"text": "smoking", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "No data have been yet provided to show that diabetes-induced cognitive decline is actually associated with increased activity of MMP-9, however, so we sought to understand the potential role of NF-κB-MMP-9 pathway in diabetic rats' brain.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 194, "end": 199}], "disease": [{"text": "cognitive decline", "start": 61, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "A discriminant function of four miRNAs (miR-140-5p, miR-423-5p, miR-195, and miR-126) was specific for T2D with an accuracy of 89. 2% (P & lt; 0. 0001).", "output": {"entities": {"gene": [{"text": "miR-126", "start": 77, "end": 84}], "disease": [{"text": "T2D", "start": 103, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-126", "start": 77, "end": 84}, "tail": {"text": "T2D", "start": 103, "end": 106}}]}}, "schema": []}
{"input": "Therefore we hypothesize that upregulation of NAA stimulates NOS and the resulting nitric oxide toxicity induces ASPA mutations and protein interaction to result pathophysiological abnormalities seen in patients with CD.", "output": {"entities": {"gene": [{"text": "ASPA", "start": 113, "end": 117}], "disease": [{"text": "abnormalities", "start": 181, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether genetic alterations of LKB1 could be involved in the tumorigenesis of HCC, we analysed the genetic alterations of the LKB1 and p53 genes in seven dysplastic nodules and 80 HCCs.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 46, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "There was a strong and significant correlation between midbrain atrophy and the severity of neurological symptoms (r =-0. 68, p < 0. 001) while midbrain atrophy and dopamine transporter binding correlated significantly but was less pronounced (r = 0. 46, p < 0. 001).", "output": {"entities": {"gene": [{"text": "dopamine transporter", "start": 165, "end": 185}], "disease": [{"text": "neurological symptoms", "start": 92, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "A follow-up study of the patient' s bone marrow at the end of induction therapy showed no morphologic evidence of residual leukemia and both FISH and chromosome analyses were normal.", "output": {"entities": {"gene": [{"text": "FISH", "start": 141, "end": 145}], "disease": [{"text": "leukemia", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Collectively, E47 is a novel substrate of PAK5, and PAK5-mediated phosphorylation of E47 promotes EMT and metastasis of colon cancer, suggesting that phosphorylated E47 on Ser39 may be a potential therapeutic target in progressive colon cancer.", "output": {"entities": {"gene": [{"text": "E47", "start": 14, "end": 17}], "disease": [{"text": "colon cancer", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The presence of VEGF mRNA may be a marker for radiobiologic hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 16, "end": 20}], "disease": [{"text": "hypoxia", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "As in the white matter, the mean GFAP mRNA levels were decreased in individuals with schizophrenia and bipolar disorder as compared with the unaffected controls, however the difference failed to reach statistical significance.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 33, "end": 37}], "disease": [{"text": "bipolar disorder", "start": 103, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GFAP", "start": 33, "end": 37}, "tail": {"text": "bipolar disorder", "start": 103, "end": 119}}]}}, "schema": []}
{"input": "In acute bacterial meningitis, sICAM-1 levels as high as 1/5 of the serum concentration were detected in the CSF (n = 24; mean +/-SD = 33. 0 +/-23. 7 ng ml-1; range: 4. 8-93. 9 ng ml-1).", "output": {"entities": {"gene": [{"text": "ml-1", "start": 153, "end": 157}], "disease": [{"text": "bacterial meningitis", "start": 9, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.", "output": {"entities": {"gene": [{"text": "OTOA", "start": 6, "end": 10}], "disease": [{"text": "hearing impairment", "start": 61, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OTOA", "start": 6, "end": 10}, "tail": {"text": "hearing impairment", "start": 61, "end": 79}}]}}, "schema": []}
{"input": "We wished to determine if the inflammatory cells surrounding the airway mucus-secreting glands in chronic bronchitis (CB) were associated with interleukin (IL)-4 and IL-5 mRNA expression and whether the CD8 T cell population expressed these cytokines.", "output": {"entities": {"gene": [{"text": "CD8", "start": 203, "end": 206}], "disease": [{"text": "chronic bronchitis", "start": 98, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Western blot analyses were negative for cleaved PARP in lysates from CD44 (sol) cells, suggesting resistance to apoptosis.", "output": {"entities": {"gene": [{"text": "CD44", "start": 69, "end": 73}], "disease": [{"text": "sol", "start": 75, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Dopamine receptor genes (DRD2, DRD3 and DRD4) and gene-gene interactions associated with smoking-related behaviors.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 25, "end": 29}], "disease": [{"text": "smoking", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Compared with MCAO group, By-H group significantly ameliorated neurological deficit, lessened the infarct volume and brain edema, increased the expression of Nrf2, HO-1 and SOD1 (P < 0. 05), and decreased the content of MDA (P < 0. 05).", "output": {"entities": {"gene": [{"text": "HO-1", "start": 164, "end": 168}], "disease": [{"text": "neurological deficit", "start": 63, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Histone methyltransferase EZH2 induces Akt-dependent genomic instability and BRCA1 inhibition in breast cancer.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 26, "end": 30}], "disease": [{"text": "genomic instability", "start": 53, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "KID syndrome (MIM 148210) is an ectodermal dysplasia characterized by the occurrence of localized erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness.", "output": {"entities": {"gene": [{"text": "MIM", "start": 14, "end": 17}], "disease": [{"text": "skin lesions", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "AML1/Runx1, originally identified as a gene located at the breakpoint of the t (8; 21) translocation, encodes a transcription factor that is widely expressed in multiple hematopoietic lineages and that regulates the expression of a variety of hematopoietic genes.", "output": {"entities": {"gene": [{"text": "Runx1", "start": 5, "end": 10}], "disease": [{"text": "translocation", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Neuropeptide Y (NPY), one of the most abundant peptide transmitters in the mammalian brain, is assumed to play an important role in feeding and body weight regulation.", "output": {"entities": {"gene": [{"text": "NPY", "start": 16, "end": 19}], "disease": [{"text": "body weight", "start": 144, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Immunofluorescent staining of human primary and secondary breast tumours showed significant correlation between SK1 and IL-6 (P < 0. 001), SK1 and p-STAT3 (P < 0. 01) and IL-6 and p-STAT3 (P < 0. 01).", "output": {"entities": {"gene": [{"text": "SK1", "start": 112, "end": 115}], "disease": [{"text": "secondary", "start": 48, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "PCAF is an HIF-1alpha cofactor that regulates p53 transcriptional activity in hypoxia.", "output": {"entities": {"gene": [{"text": "PCAF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that SIRT2 inhibition triggers necrosis of merlin-mutant MSCs and that SIRT2 is a potential NF2 drug target.", "output": {"entities": {"gene": [{"text": "SIRT2", "start": 28, "end": 33}], "disease": [{"text": "necrosis", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "To determine if p66 (Shc) is similarly regulated in primates and in bronchopulmonary dysplasia (BPD), which results from oxidative injury to immature lungs.", "output": {"entities": {"gene": [{"text": "p66", "start": 16, "end": 19}], "disease": [{"text": "bronchopulmonary dysplasia", "start": 68, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.", "output": {"entities": {"gene": [{"text": "desmin", "start": 29, "end": 35}], "disease": [{"text": "desminopathy", "start": 29, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "desmin", "start": 29, "end": 35}, "tail": {"text": "desminopathy", "start": 29, "end": 41}}]}}, "schema": []}
{"input": "Salient findings include a nonsynonymous SNP (rs1056513) in INADL (p = 1. 2E-07) for weight; an intronic variant in MTNR1B associated with fasting glucose (p = 3. 7E-08); variants in the APOA5-ZNF259 region associated with triglycerides (p = 2. 5-4. 8E-08); an intronic variant in PCSK2 associated with total antioxidants (p = 7. 6E-08); a block of 23 SNPs in XPA/FOXE1 (TTF-2) associated with serum TSH (p = 5. 5E-08 to 1. 0E-09); a nonsynonymous SNP (p = 1. 3E-21), an intronic SNP (p = 3. 6E-13) in DARC identified for MCP-1; an intronic variant in ARHGAP11A associated with sleep duration (p = 5. 0E-08); and, after adjusting for body weight, variants in MATK for total energy expenditure (p = 2. 7E-08) and in CHRNA3 for sleeping energy expenditure (p = 6. 0E-08).", "output": {"entities": {"gene": [{"text": "TTF-2", "start": 371, "end": 376}], "disease": [{"text": "body weight", "start": 634, "end": 645}]}, "relations": {}}, "schema": []}
{"input": "In the same rats the cataleptic response to beta-endorphin was antagonized as well; however no definitive conclusion could be made regarding the antagonism of the morphine-induced catalepsy.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 44, "end": 58}], "disease": [{"text": "catalepsy", "start": 180, "end": 189}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "beta-endorphin", "start": 44, "end": 58}, "tail": {"text": "catalepsy", "start": 180, "end": 189}}]}}, "schema": []}
{"input": "In a case-control study involving 50 MS patients, and 50 healthy control individuals for which plasma vitamin D levels, supplement use, vitamin D receptor (VDR) variants, and skin pigmentation indices were ascertained; we found overall vitamin D levels to be deficient in both groups, and supplement use to be common practice.", "output": {"entities": {"gene": [{"text": "VDR", "start": 156, "end": 159}], "disease": [{"text": "skin pigmentation", "start": 175, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Plasma levels of CXCL13 in HIV-1-infected antiretroviral therapy-naive subjects correlated with viral load and were higher compared with antiretroviral therapy-treated HIV-1-infected and HIV-1-uninfected subjects.", "output": {"entities": {"gene": [{"text": "CXCL13", "start": 17, "end": 23}], "disease": [{"text": "viral load", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-to-mesenchymal transition-like (EMT-like) is a critical process allowing initiation of metastases during tumour progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 43, "end": 46}], "disease": [{"text": "tumour progression", "start": 116, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, because the amino acid substitutions in the Tat and Rev were identical to those previously reported for the nonpathogenic SHIV (PPc), our results indicate that amino acid substitutions in the Env and/or Nef were responsible for the observed CD4 (+) T cell loss and neurological disease after inoculation with this molecular clone.", "output": {"entities": {"gene": [{"text": "CD4", "start": 254, "end": 257}], "disease": [{"text": "neurological disease", "start": 278, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "In particular, 4 genes of them, which were cytochrome C oxidase Va, PPBP, EPHX2 and PON1, were first reported to correlate with tumorigenesis.", "output": {"entities": {"gene": [{"text": "EPHX2", "start": 74, "end": 79}], "disease": [{"text": "tumorigenesis", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Among metabolic syndrome components, LBP concentrations were independently associated with abdominal obesity (P = 0. 002) and low concentrations of HDL-cholesterol (P & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "LBP", "start": 37, "end": 40}], "disease": [{"text": "metabolic syndrome", "start": 6, "end": 24}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LBP", "start": 37, "end": 40}, "tail": {"text": "metabolic syndrome", "start": 6, "end": 24}}]}}, "schema": []}
{"input": "mRNA expression level) was related to poor differentiation grade, distant metastasis, and small cell carcinoma histologic type (ANOVA, p < 0. 05).", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 128, "end": 133}], "disease": [{"text": "small cell carcinoma", "start": 90, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In contrast, we observed that serum IFN production was abrogated and that the viral load in nonneural tissues and mortality rates were both markedly higher in TIR domain-containing adaptor-inducing IFN-β (TRIF)-deficient and TLR3-deficient mice than in wild-type mice.", "output": {"entities": {"gene": [{"text": "TRIF", "start": 205, "end": 209}], "disease": [{"text": "viral load", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In our case, a novel mutation of lamin A/C presented in the typical form of cardiolaminopathy with ventricular tachycardia and mild myocardial dysfunction in an apparently healthy, middle-aged individual.", "output": {"entities": {"gene": [{"text": "lamin A/C", "start": 33, "end": 42}], "disease": [{"text": "mild", "start": 127, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Thrombotic risk of muscular dystrophy: protein C deficiency, factor V Leiden, and myotonic dystrophy.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 61, "end": 76}], "disease": [{"text": "muscular dystrophy", "start": 19, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "However, we now demonstrate that patients can develop a myopathy with histologic features of myofibrillar myopathy with aggregates and rimmed vacuoles, similar to the pathology in myopathies due to gene defects in other compounds of the CASA complex such as BAG3 and DNAJB6 after developing the early neurogenic effects.", "output": {"entities": {"gene": [{"text": "CASA", "start": 237, "end": 241}], "disease": [{"text": "myofibrillar myopathy", "start": 93, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to investigate the association between 61 SNPs in eight CHRN genes (CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2, CHRNB3, CHRNB4) and dizziness at first inhalation.", "output": {"entities": {"gene": [{"text": "CHRNA3", "start": 100, "end": 106}], "disease": [{"text": "inhalation", "start": 187, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "It was performed a family-based association study of 6 single nucleotide polymorphisms (SNPs) from the TPH2 with autism spectrum disorder (ASD) in 151 Korean trios.", "output": {"entities": {"gene": [{"text": "TPH2", "start": 103, "end": 107}], "disease": [{"text": "autism spectrum disorder", "start": 113, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We report here three new cases presenting a t (9; 14) (p13; q32) with other chromosomal abnormalities which have been referred to as B-cell low-grade or high-grade malignant lymphoproliferative disorders.", "output": {"entities": {"gene": [{"text": "p13", "start": 55, "end": 58}], "disease": [{"text": "lymphoproliferative disorders", "start": 174, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to evaluate the prevalence of BRCA1 (MIM: 113705) founder mutations in familial breast cancer (BC) patients with high risks in Iran.", "output": {"entities": {"gene": [{"text": "MIM", "start": 67, "end": 70}], "disease": [{"text": "familial breast cancer", "start": 101, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "One hundred and forty two hospitalised patients, affected by major depression and treated with antidepressants drugs for a major depressive episode were evaluated for depressive severity at the baseline and at the discharge and genotyped for five SNPs within the genes HSPA1L, HSPA1A and HSPA1B.", "output": {"entities": {"gene": [{"text": "HSPA1L", "start": 269, "end": 275}], "disease": [{"text": "major depression", "start": 61, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSPA1L", "start": 269, "end": 275}, "tail": {"text": "major depression", "start": 61, "end": 77}}]}}, "schema": []}
{"input": "This is the case report of a patient with Wolf' s syndrome having a monosomy 4pter----p15. 3 and an additional trisomy 8pter----p22, derived from a maternal balanced translocation t (4; 8) (p15. 3; p22) after 2: 2 disjunction and adjacent-1 segregation.", "output": {"entities": {"gene": [{"text": "p22", "start": 128, "end": 131}], "disease": [{"text": "monosomy", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Because gastrointestinal inflammation is known to enhance anxiety, we explored whether experimental colitis interacts with genetic deletion (knockout) of PYY and NPY to alter emotional-affective behaviour.", "output": {"entities": {"gene": [{"text": "PYY", "start": 154, "end": 157}], "disease": [{"text": "colitis", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four-hour DBP and MBP, LVM, LVM: height ratio, insulin level, insulin: glucose ratio and PRA were significantly higher in subgroup A than in subgroup B. Fasting blood sugar level, 24-h DBP and MBP, insulin level, insulin: glucose ratio, PRA, noradrenaline, adrenaline and plasma aldosterone levels were significantly higher in subgroup C than in subgroup D. Multivariate analysis also indicated that 24-h MBP and PRA levels were significantly influenced by the association between a positive family history of hypertension and obesity.", "output": {"entities": {"gene": [{"text": "PRA", "start": 96, "end": 99}], "disease": [{"text": "height", "start": 40, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Microdeletion of the chromosomal subband 22q11. 22 was detected in 17 children by high-resolution banding and in two additional children with conotruncal defect (CTD) who had submicroscopic deletions proved by FISH analyses.", "output": {"entities": {"gene": [{"text": "FISH", "start": 210, "end": 214}], "disease": [{"text": "conotruncal defect", "start": 142, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Methylation of GSTP1, RARB, CD44, ECAD and RASSF1A, but not of EDNRB was detected at a statistically higher frequency in prostate cancer than in the benign prostatic hypertrophy specimens.", "output": {"entities": {"gene": [{"text": "RASSF1A", "start": 43, "end": 50}], "disease": [{"text": "benign prostatic hypertrophy", "start": 149, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "hMena (ENAH), an actin regulatory protein involved in the control of cell motility and adhesion, is modulated during human breast carcinogenesis.", "output": {"entities": {"gene": [{"text": "ENAH", "start": 7, "end": 11}], "disease": [{"text": "adhesion", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "CLDN1 increased expressions of cancer invasion/metastasis suppressors (e. g., connective tissue growth factor [CTGF], thrombospondin 1 [THBS1], deleted in liver cancer 1 [DLC1], occludin [OCLN], zona occludens 1 [ZO-1]) and suppressed expressions of invasion/metastasis enhancers (e. g., secreted phosphoprotein 1 [SPP1], cut-like homeobox 1 [CUTL1], transforming growth factor alpha [TGF-alpha], solute carrier family 2 [faciliated glucose transporter] member 3 [SLC2A3], placental growth factor [PGF]), supporting a role for CLDN1 as an invasion and metastasis suppressor.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 315, "end": 319}], "disease": [{"text": "metastasis", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Asthmatic airway neutrophilia after allergen challenge is associated with the glutathione S-transferase M1 genotype.", "output": {"entities": {"gene": [{"text": "glutathione S-transferase M1", "start": 78, "end": 106}], "disease": [{"text": "neutrophilia", "start": 17, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Both tumor-associated macrophages (TAMs) and the epithelial to mesenchymal transition (EMT) of cancer cells play key roles in promoting tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 87, "end": 90}], "disease": [{"text": "tumor progression", "start": 136, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "& lt; i & gt; ABCC6 & lt;/i & gt; (formerly known as & lt; i & gt; MRP6 & lt;/i & gt;), which encodes the ATP-binding cassette protein multidrug resistance-associated protein 6, is the only gene known to be associated with PXE.", "output": {"entities": {"gene": [{"text": "multidrug resistance-associated protein 6", "start": 135, "end": 176}], "disease": [{"text": "PXE", "start": 223, "end": 226}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "multidrug resistance-associated protein 6", "start": 135, "end": 176}, "tail": {"text": "PXE", "start": 223, "end": 226}}]}}, "schema": []}
{"input": "Glycogen storage disease type II (GSD II) is an autosomal recessive deficiency of acidalpha-1, 4-glucosidase (GAA) caused by mutations in the GAA gene located on human chromosome 17 (17q 25. 2-q 25. 3).", "output": {"entities": {"gene": [{"text": "GAA", "start": 110, "end": 113}], "disease": [{"text": "Glycogen storage disease type II", "start": 0, "end": 32}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GAA", "start": 110, "end": 113}, "tail": {"text": "Glycogen storage disease type II", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "The current study examined the molecular mechanisms involved in PPARγ-regulated, hypoxia-induced Nox4 expression in human pulmonary artery smooth muscle cells (HPASMC).", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 64, "end": 69}], "disease": [{"text": "hypoxia", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 12, "end": 16}], "disease": [{"text": "nevus sebaceous", "start": 42, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRAS", "start": 12, "end": 16}, "tail": {"text": "nevus sebaceous", "start": 42, "end": 57}}]}}, "schema": []}
{"input": "Reduced complex formation of mutant E-cadherin-with an in frame deletion of exon 8 in the extracellular domain resulting in reduced adhesion and increased motility-with EGFR was observed compared with wild-type E-cadherin.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 169, "end": 173}], "disease": [{"text": "adhesion", "start": 132, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha and IL-1 beta are preferentially up-regulated, compared with IL-6 and TF, in unstimulated monocytes in asymptomatic persons, with a loss of up-regulation as patients progress to AIDS.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 71, "end": 75}], "disease": [{"text": "asymptomatic", "start": 113, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Our data firstly indicate that XRCC4 may be a potential protective gene towards schizophrenia, conferring reduced susceptibility to colorectal cancer in the Han Chinese population.", "output": {"entities": {"gene": [{"text": "XRCC4", "start": 31, "end": 36}], "disease": [{"text": "schizophrenia", "start": 80, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XRCC4", "start": 31, "end": 36}, "tail": {"text": "schizophrenia", "start": 80, "end": 93}}]}}, "schema": []}
{"input": "Last, the in vivo silencing efficacy of SAMiRNAs was evaluated by targeting amphiregulin and connective tissue growth factor in bleomycin or TGF-& #946; transgenic animal models of pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "amphiregulin", "start": 76, "end": 88}], "disease": [{"text": "pulmonary fibrosis", "start": 181, "end": 199}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "amphiregulin", "start": 76, "end": 88}, "tail": {"text": "pulmonary fibrosis", "start": 181, "end": 199}}]}}, "schema": []}
{"input": "Finally, plasma Angptl4 was independently and negatively associated with carotid artery sclerosis measured by 3-T MRI in subjects with metabolic syndrome and low-grade systemic inflammation.", "output": {"entities": {"gene": [{"text": "Angptl4", "start": 16, "end": 23}], "disease": [{"text": "sclerosis", "start": 88, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Similarly to immunohistochemical results, PAR-1 mRNA expression was significantly higher in atypical nevi and melanomas in comparison with common nevi and controls.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 42, "end": 47}], "disease": [{"text": "nevi", "start": 101, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "AAV-mediated delivery of CNTF may have implications for the treatment of human retinal degeneration.", "output": {"entities": {"gene": [{"text": "AAV", "start": 0, "end": 3}], "disease": [{"text": "retinal degeneration", "start": 79, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In contrast, VEGF transcripts were seen in specimens with evidence of acute ischemia or evolving infarction (onset, 24 to 120 hours before surgery).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 13, "end": 17}], "disease": [{"text": "infarction", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.", "output": {"entities": {"gene": [{"text": "MCOLN1", "start": 29, "end": 35}], "disease": [{"text": "Mucolipidosis type IV", "start": 0, "end": 21}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCOLN1", "start": 29, "end": 35}, "tail": {"text": "Mucolipidosis type IV", "start": 0, "end": 21}}]}}, "schema": []}
{"input": "To examine the hypoxia responsiveness of the VEGF promoter, lung cancer cells were transiently exposed to hypoxia; this treatment increased enhanced green fluorescent protein (EGFP) expression after AdVEGFEGFP infection in both normal and cancer cell lines, and enhanced apoptosis and decreased the number of surviving cancer cells compared with the Ad/BAX plus Ad/Cre binary adenoviral system.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 45, "end": 49}], "disease": [{"text": "hypoxia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Recently, a translocation t (2; 3) (q13; p25), leading to the formation of a chimeric PAX8-peroxisome proliferator-activated receptor (PPAR) gamma 1 oncogene, was detected in follicular thyroid carcinomas (FTC), but not in follicular thyroid adenomas (FTA), papillary thyroid carcinomas (PTC), or multinodular hyperplasias.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 135, "end": 139}], "disease": [{"text": "translocation", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "It is concluded from the present study that the reduction of angiotensin II by captopril might contribute to the worsening of anemia seen in chronic hemodialysis patients.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 61, "end": 75}], "disease": [{"text": "anemia", "start": 126, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin II", "start": 61, "end": 75}, "tail": {"text": "anemia", "start": 126, "end": 132}}]}}, "schema": []}
{"input": "The remaining Hspg2-/-mice died just after birth with skeletal dysplasia characterized by micromelia with broad and bowed long bones, narrow thorax and craniofacial abnormalities.", "output": {"entities": {"gene": [{"text": "Hspg2", "start": 14, "end": 19}], "disease": [{"text": "craniofacial abnormalities", "start": 152, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hspg2", "start": 14, "end": 19}, "tail": {"text": "craniofacial abnormalities", "start": 152, "end": 178}}]}}, "schema": []}
{"input": "Although these variants do not yet provide definitive evidence that they are causal, the results imply a role of the FZD4 and LRP5 genes in the development of advanced ROP.", "output": {"entities": {"gene": [{"text": "LRP5", "start": 126, "end": 130}], "disease": [{"text": "ROP", "start": 168, "end": 171}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRP5", "start": 126, "end": 130}, "tail": {"text": "ROP", "start": 168, "end": 171}}]}}, "schema": []}
{"input": "CBR1 overexpression, siRNA, and inhibitors were used to study the role of CBR1 in tumor survival under hypoxia and chemoresistance to cisplatin and doxorubicin in HCC.", "output": {"entities": {"gene": [{"text": "CBR1", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.", "output": {"entities": {"gene": [{"text": "c20orf54", "start": 97, "end": 105}], "disease": [{"text": "Brown-Vialetto-Van Laere syndrome", "start": 0, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "c20orf54", "start": 97, "end": 105}, "tail": {"text": "Brown-Vialetto-Van Laere syndrome", "start": 0, "end": 33}}]}}, "schema": []}
{"input": "However, unlike the case of Brca1-mutant cells, Trp53bp1 deletion failed to rescue the genomic instability of Palb2-or Brca2-mutant primary lymphocytes.", "output": {"entities": {"gene": [{"text": "Brca1", "start": 28, "end": 33}], "disease": [{"text": "genomic instability", "start": 87, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Our in vivo study indicates that PAR-1 and PAR-2 are expressed in cells involved in physiological and pathological scar formation and suggests that in vitro overexpression and exaggerated functional response of PAR-2 may play a role in the function of myofibroblasts in scar evolution from a physiological repair process to a pathological tissue response.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 33, "end": 38}], "disease": [{"text": "scar", "start": 115, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The search terms FISH, fluorescence in situ hybridization, DIA, digital image analysis and cholangiocarcinoma were used.", "output": {"entities": {"gene": [{"text": "FISH", "start": 17, "end": 21}], "disease": [{"text": "cholangiocarcinoma", "start": 91, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that there was a significant decrease in glandular expression of ANXA1 in ductal carcinoma in situ and invasive ductal carcinoma compared with either normal breast tissue or hyperplasia (P <. 0001).", "output": {"entities": {"gene": [{"text": "ANXA1", "start": 84, "end": 89}], "disease": [{"text": "ductal carcinoma in situ", "start": 93, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The additive effect of angiotensin II and aldosterone maximizes sodium reabsorption during hypovolemia, whereas the inhibitory effect of potassium on NCC increases delivery of sodium to the potassium-secreting portion of the nephron.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 23, "end": 37}], "disease": [{"text": "hypovolemia", "start": 91, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities.", "output": {"entities": {"gene": [{"text": "ORC6", "start": 25, "end": 29}], "disease": [{"text": "Meier-Gorlin syndrome", "start": 122, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ORC6", "start": 25, "end": 29}, "tail": {"text": "Meier-Gorlin syndrome", "start": 122, "end": 143}}]}}, "schema": []}
{"input": "Our work demonstrates a function for AKR1C3 in differentiation-associated gene regulation and also suggests a role in supporting inflammation in AD.", "output": {"entities": {"gene": [{"text": "AKR1C3", "start": 37, "end": 43}], "disease": [{"text": "inflammation", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Growth differentiation factor 15, a marker of lung involvement in systemic sclerosis, is involved in fibrosis development but is not indispensable for fibrosis development.", "output": {"entities": {"gene": [{"text": "Growth differentiation factor 15", "start": 0, "end": 32}], "disease": [{"text": "fibrosis", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Finally, we have demonstrated reduced synthesis and secretion of tropoelastin by skin fibroblasts from the same SVAS patient.", "output": {"entities": {"gene": [{"text": "tropoelastin", "start": 65, "end": 77}], "disease": [{"text": "SVAS", "start": 112, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tropoelastin", "start": 65, "end": 77}, "tail": {"text": "SVAS", "start": 112, "end": 116}}]}}, "schema": []}
{"input": "Here, we show that deregulated expression of AID causes widespread genome instability, which alone is insufficient to induce B cell lymphoma; transformation requires concomitant loss of the tumor suppressor p53.", "output": {"entities": {"gene": [{"text": "AID", "start": 45, "end": 48}], "disease": [{"text": "genome instability", "start": 67, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Here we report the first study to investigate whether IRF6 variation is associated with palatine rugae patterns in a population with sporadic tooth agenesis.", "output": {"entities": {"gene": [{"text": "IRF6", "start": 54, "end": 58}], "disease": [{"text": "tooth agenesis", "start": 142, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We compared vector control and EGFR-antisense cells for cell morphology and adhesion by light microscopy, expression of alpha (6)-and alpha (3)-integrin subunits by flow cytometry, MMP and tissue inhibitor of MMP (TIMP) activity by zymography, and migration by a wound migration assay.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 31, "end": 35}], "disease": [{"text": "adhesion", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "EPO treatment decreased hypoxia-induced HIF-1alpha protein levels and VEGF transcription, with no effect on cell growth.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 70, "end": 74}], "disease": [{"text": "hypoxia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Expression patterns of the TP53 inhibitor MDM4 have not been reported in BL, and increased MDM4 could deregulate the TP53 pathway in cases without TP53 or MDM2 abnormalities.", "output": {"entities": {"gene": [{"text": "MDM4", "start": 42, "end": 46}], "disease": [{"text": "abnormalities", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.", "output": {"entities": {"gene": [{"text": "CEP57", "start": 0, "end": 5}], "disease": [{"text": "mosaic variegated aneuploidy syndrome", "start": 30, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CEP57", "start": 0, "end": 5}, "tail": {"text": "mosaic variegated aneuploidy syndrome", "start": 30, "end": 67}}]}}, "schema": []}
{"input": "No interactions were detected between smoking and either MAO-A EcoRV or DRD2 Taq1B genotypes.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 72, "end": 76}], "disease": [{"text": "smoking", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Role of fragile histidine triad protein expression in pathogenesis of malignant pleural mesothelioma.", "output": {"entities": {"gene": [{"text": "fragile histidine triad protein", "start": 8, "end": 39}], "disease": [{"text": "mesothelioma", "start": 88, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "fragile histidine triad protein", "start": 8, "end": 39}, "tail": {"text": "mesothelioma", "start": 88, "end": 100}}]}}, "schema": []}
{"input": "Meta-analyses of SDR (≥ severe non-proliferative diabetic retinopathy (NPDR) or history of panretinal photocoagulation) and MDR (≥ mild NPDR), defined based on seven-field stereoscopic fundus photographs, were performed in two well-characterized type 1 diabetes (T1D) cohorts: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC, n = 1, 304) and Wisconsin Epidemiologic Study of Diabetic Retinopathy (WESDR, n = 603).", "output": {"entities": {"gene": [{"text": "SDR", "start": 17, "end": 20}], "disease": [{"text": "type 1 diabetes", "start": 246, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that the olfactory system of STOP null mice is a well-suited experimental model (1) for the study of the mechanism of action of STOP protein in synaptic function/plasticity and (2) for pathophysiological studies of the mechanisms of altered neuronal connections in schizophrenia.", "output": {"entities": {"gene": [{"text": "STOP", "start": 50, "end": 54}], "disease": [{"text": "schizophrenia", "start": 286, "end": 299}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STOP", "start": 50, "end": 54}, "tail": {"text": "schizophrenia", "start": 286, "end": 299}}]}}, "schema": []}
{"input": "We sought to study the relationship of Rgs2 expression level to depression and anxiety-like behavioural features, sociability and brain 5-HT1A and 5-HT1B receptor expression.", "output": {"entities": {"gene": [{"text": "5-HT1B", "start": 147, "end": 153}], "disease": [{"text": "depression", "start": 64, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT1B", "start": 147, "end": 153}, "tail": {"text": "depression", "start": 64, "end": 74}}]}}, "schema": []}
{"input": "Novel role of human CD4 molecule identified in neurodegeneration.", "output": {"entities": {"gene": [{"text": "CD4 molecule", "start": 20, "end": 32}], "disease": [{"text": "neurodegeneration", "start": 47, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD4 molecule", "start": 20, "end": 32}, "tail": {"text": "neurodegeneration", "start": 47, "end": 64}}]}}, "schema": []}
{"input": "Little is known, however, about the occurrence and nature of somatic alterations (2nd-hit) in SMAD4-/BMPR1A-related juvenile polyps.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 101, "end": 107}], "disease": [{"text": "hit", "start": 86, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "This second locus may be involved in sporadic cases of muscular dystrophy with adhalin deficiency that have been reported in Europe.", "output": {"entities": {"gene": [{"text": "adhalin", "start": 79, "end": 86}], "disease": [{"text": "sporadic", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "De novo p. Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.", "output": {"entities": {"gene": [{"text": "ATP1A3", "start": 33, "end": 39}], "disease": [{"text": "paralysis", "start": 118, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Melatonin at a pharmacological concentration (1 mM) decreases cellular and secreted VEGF levels, and prevents HUVECs tube formation under hypoxia, associated with a reduction in Hif1α protein expression, nuclear localisation, and transcriptional activity.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 84, "end": 88}], "disease": [{"text": "hypoxia", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge, this is the first report of a germline gross deletion of the & lt; i & gt; CDKN2A-CDKN2B & lt;/i & gt; locus in an LFS family.", "output": {"entities": {"gene": [{"text": "CDKN2A", "start": 93, "end": 99}], "disease": [{"text": "LFS", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDKN2A", "start": 93, "end": 99}, "tail": {"text": "LFS", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "As the liver represents a major target organ for thyroid hormone action, we compared the expression of thyroid hormone receptor (TR) alpha and beta variants in normal human liver and liver affected by primary biliary cirrhosis, sclerosing cholangitis, cryptogenic cirrhosis, and alcoholic cirrhosis (n = 6 in each group).", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 111, "end": 127}], "disease": [{"text": "cryptogenic cirrhosis", "start": 252, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Recently, we reported the high incidence of somatic mutations in the AML1/RUNX1 gene, which is a critical regulator of definitive hematopoiesis and the most frequent target for translocation of AML, in MDS, especially refractory anemia with excess blasts (RAEB), RAEB in transformation (RAEBt) and AML following MDS (defined here as MDS/AML).", "output": {"entities": {"gene": [{"text": "RUNX1 gene", "start": 74, "end": 84}], "disease": [{"text": "translocation", "start": 177, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "[2006] reported a TWIST Box \" nondisease-causing polymorphism \" in a patient with isolated sagittal synostosis.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 18, "end": 23}], "disease": [{"text": "sagittal synostosis", "start": 91, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TWIST", "start": 18, "end": 23}, "tail": {"text": "sagittal synostosis", "start": 91, "end": 110}}]}}, "schema": []}
{"input": "Two variations of PPARG (P12A [rs1801282] and C161T [rs3856806]) were investigated in two independent case-control studies with a total of 832 melanoma patients and 790 control individuals.", "output": {"entities": {"gene": [{"text": "P12A", "start": 25, "end": 29}], "disease": [{"text": "melanoma", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of CCL11 gene polymorphism rs4795895-1382A > G with ischemic and hemorrhagic stroke.", "output": {"entities": {"gene": [{"text": "CCL11 gene", "start": 35, "end": 45}], "disease": [{"text": "hemorrhagic stroke", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Erythrogenic toxin type A (ETA) is assumed to play a causative role in both scarlet fever and the streptococcal toxic shock-like syndrome (TSLS).", "output": {"entities": {"gene": [{"text": "ETA", "start": 27, "end": 30}], "disease": [{"text": "scarlet fever", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "When reintroduced into renal carcinoma cells that lack a wild-type VHL allele, pVHL18 suppresses basal levels of VEGF expression, restores hypoxia-inducibility of VEGF expression, and inhibits tumor formation in nude mice.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 113, "end": 117}], "disease": [{"text": "hypoxia", "start": 139, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Increases in ASMC proliferation, migration, and cytoplasmic Ca2 + concentration are critical to airway remodeling and hyper-responsiveness.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 60, "end": 63}], "disease": [{"text": "airway remodeling", "start": 96, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Although most leukemias were acute myeloid leukemia, many showed lymphoid features, such as CD3 staining, or clonal Tcrb or Igh gene rearrangements.", "output": {"entities": {"gene": [{"text": "Tcrb", "start": 116, "end": 120}], "disease": [{"text": "acute myeloid leukemia", "start": 29, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Hepatocyte growth factor delivered by ultrasound-mediated destruction of microbubbles induces proliferation of cardiomyocytes and amelioration of left ventricular contractile function in Doxorubicin-induced cardiomyopathy.", "output": {"entities": {"gene": [{"text": "Hepatocyte growth factor", "start": 0, "end": 24}], "disease": [{"text": "cardiomyopathy", "start": 207, "end": 221}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Hepatocyte growth factor", "start": 0, "end": 24}, "tail": {"text": "cardiomyopathy", "start": 207, "end": 221}}]}}, "schema": []}
{"input": "ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.", "output": {"entities": {"gene": [{"text": "ClC-1", "start": 0, "end": 5}], "disease": [{"text": "myotonia congenita", "start": 19, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ClC-1", "start": 0, "end": 5}, "tail": {"text": "myotonia congenita", "start": 19, "end": 37}}]}}, "schema": []}
{"input": "In an effort to improve the therapeutic effect of a MAb-based regimen in colorectal carcinoma (CRC) patients, the effects of a combination of alpha-interferon (alpha-IFN), 5-fluorouracil (5-FU), granulocyte-macrophage colony-stimulating factor (GM-CSF) and mouse MAb17-1A was evaluated in 27 patients with metastatic disease. alpha-IFN was given s. c. once daily for 5 consecutive days and at days 4 and 5, 5-FU was administered as a daily i. v. bolus injection.", "output": {"entities": {"gene": [{"text": "IFN", "start": 166, "end": 169}], "disease": [{"text": "colorectal carcinoma", "start": 73, "end": 93}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IFN", "start": 166, "end": 169}, "tail": {"text": "colorectal carcinoma", "start": 73, "end": 93}}]}}, "schema": []}
{"input": "Increased central hypothalamic levels of neuropeptide Y in food-restricted rats suggest that this peptide may help to defend body weight by stimulating eating after weight loss.", "output": {"entities": {"gene": [{"text": "neuropeptide Y", "start": 41, "end": 55}], "disease": [{"text": "body weight", "start": 125, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "A total of 14 lymphocytic leukemia patients were examined, seven with acute lymphocytic leukemia (ALL), two with adult T-cell leukemia (ATL), two with B-chronic lymphocytic leukemia (CLL), two with chronic myelocytic leukemia in lymphoid blastic crisis (CML-LBC), and one with plasma cell leukemia (PCL).", "output": {"entities": {"gene": [{"text": "LBC", "start": 258, "end": 261}], "disease": [{"text": "lymphocytic leukemia", "start": 14, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.", "output": {"entities": {"gene": [{"text": "ALG9", "start": 47, "end": 51}], "disease": [{"text": "CDG-IL", "start": 0, "end": 6}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALG9", "start": 47, "end": 51}, "tail": {"text": "CDG-IL", "start": 0, "end": 6}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the relationships among vitamin D receptor (VDR) gene polymorphism, parathyroid hormone (PTH) levels and bone density in renal transplant recipients.", "output": {"entities": {"gene": [{"text": "PTH", "start": 130, "end": 133}], "disease": [{"text": "bone density", "start": 146, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "To investigate the possible contribution of rare variants to the development of substance dependencies other than nicotine dependence, specifically alcohol and cocaine dependence, we undertook pooled sequencing of the coding regions and flanking sequence of CHRNA5, CHRNA3, CHRNB4, CHRNA6 and CHRNB3 in 287 African American and 1028 European American individuals from the Collaborative Study of the Genetics of Alcoholism (COGA).", "output": {"entities": {"gene": [{"text": "CHRNB4", "start": 274, "end": 280}], "disease": [{"text": "cocaine dependence", "start": 160, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNB4", "start": 274, "end": 280}, "tail": {"text": "cocaine dependence", "start": 160, "end": 178}}]}}, "schema": []}
{"input": "Gene transcripts of TNFα were lower among patients with severe sepsis/shock than among patients with sepsis; that was not the case for TREM-1.", "output": {"entities": {"gene": [{"text": "TREM-1", "start": 135, "end": 141}], "disease": [{"text": "shock", "start": 70, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "NOS1AP variants were significantly associated with the occurrence of symptoms (rs4657139, P = 0. 019; rs16847548, P = 0. 003), with clinical severity, as manifested by a greater probability for cardiac arrest and sudden death (rs4657139, P = 0. 028; rs16847548, P = 0. 014), and with greater likelihood of having a QT interval in the top 40% of values among all mutation carriers (rs4657139, P = 0. 03; rs16847548, P = 0. 03).", "output": {"entities": {"gene": [{"text": "NOS1AP", "start": 0, "end": 6}], "disease": [{"text": "sudden death", "start": 213, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We investigated relationships between DNA copy number aberrations and chromosomal structural rearrangements in 11 different cell lines derived from oral squamous cell carcinoma (OSCC) by comparative genomic hybridization (CGH), spectral karyotyping (SKY), and fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "SKY", "start": 250, "end": 253}], "disease": [{"text": "squamous cell carcinoma", "start": 153, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Association analyses suggest GPR24 as a shared susceptibility gene for bipolar affective disorder and schizophrenia.", "output": {"entities": {"gene": [{"text": "GPR24", "start": 29, "end": 34}], "disease": [{"text": "bipolar affective disorder", "start": 71, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPR24", "start": 29, "end": 34}, "tail": {"text": "bipolar affective disorder", "start": 71, "end": 97}}]}}, "schema": []}
{"input": "Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.", "output": {"entities": {"gene": [{"text": "KCNJ10", "start": 13, "end": 19}], "disease": [{"text": "enlarged vestibular aqueduct", "start": 111, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCNJ10", "start": 13, "end": 19}, "tail": {"text": "enlarged vestibular aqueduct", "start": 111, "end": 139}}]}}, "schema": []}
{"input": "Inhibition of NF-& #954; B by expression of an I & #954; B & #945; super-repressor (I & #954; B & #945; SR) transgene in hepatocytes was shown to prevent HCC development in Mdr2 (-/-) mice, suggesting that NF-& #954; B acts as a tumour promoter in this model of inflammation-associated carcinogenesis.", "output": {"entities": {"gene": [{"text": "Mdr2", "start": 173, "end": 177}], "disease": [{"text": "inflammation", "start": 262, "end": 274}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mdr2", "start": 173, "end": 177}, "tail": {"text": "inflammation", "start": 262, "end": 274}}]}}, "schema": []}
{"input": "Patient 3 was diagnosed as Xp21 contiguous gene syndrome associated with deletions of the entire IL1RAPL, GK genes and the C-terminal region of DMD gene.", "output": {"entities": {"gene": [{"text": "DMD gene", "start": 144, "end": 152}], "disease": [{"text": "contiguous gene syndrome", "start": 32, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The phosphatidylinositol-3 kinase/Akt (PI3K/Akt) pathway is involved in TNF-α signaling and contributes to airway hyperresponsiveness and airway remodeling.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 39, "end": 43}], "disease": [{"text": "airway remodeling", "start": 138, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Papillon-Lefevre syndrome (PLS; OMlM 245000) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC) gene and is characterized by palmoplantar keratoderma, psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth.", "output": {"entities": {"gene": [{"text": "CTSC", "start": 115, "end": 119}], "disease": [{"text": "psoriasiform lesion", "start": 176, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our data further support a role for P11 in depression-like states and suggest that this gene is controlled by epigenetic mechanisms that can be affected by antidepressant treatment.", "output": {"entities": {"gene": [{"text": "P11", "start": 51, "end": 54}], "disease": [{"text": "depression", "start": 58, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P11", "start": 51, "end": 54}, "tail": {"text": "depression", "start": 58, "end": 68}}]}}, "schema": []}
{"input": "Sorafenib is the standard systemic therapy for unresectable or recurrent hepatocellular carcinoma (HCC) but adds minimal increase in survival.", "output": {"entities": {"gene": [{"text": "HCC", "start": 99, "end": 102}], "disease": [{"text": "recurrent hepatocellular carcinoma", "start": 63, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "FKBP6 has a putative N-terminal FK-506 binding and peptidylproyl isomerase (rotamase) domain and, like known high-molecular-weight FKBPs, an imperfect C-terminal tetratricopeptide repeat domain.", "output": {"entities": {"gene": [{"text": "rotamase", "start": 76, "end": 84}], "disease": [{"text": "weight", "start": 124, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Thus, NR4A3 and NR4A1 are attractive novel therapeutic targets for potential amelioration of insulin resistance, and treatment and prevention of type 2 diabetes and the metabolic syndrome.", "output": {"entities": {"gene": [{"text": "NR4A3", "start": 6, "end": 11}], "disease": [{"text": "insulin resistance", "start": 93, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR4A3", "start": 6, "end": 11}, "tail": {"text": "insulin resistance", "start": 93, "end": 111}}]}}, "schema": []}
{"input": "Patients were stratified by smoking, histology, and EGFR status.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 52, "end": 56}], "disease": [{"text": "smoking", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "IL-17A involves the ALI induced by LPS or PQ and promotes the pathological process by activating NF-& #954; B P65 and recruiting neutrophils, which enlarges the cascade effect of inflammation and injures lung tissues.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 0, "end": 6}], "disease": [{"text": "ALI", "start": 20, "end": 23}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-17A", "start": 0, "end": 6}, "tail": {"text": "ALI", "start": 20, "end": 23}}]}}, "schema": []}
{"input": "This SRC-3 overexpression frequency was similar to the overexpression frequency observed for squamous cell carcinoma and adenocarcinoma (82. 1% vs 90%) and for metastasis and non-metastasis patients (84. 6% vs 85. 7%).", "output": {"entities": {"gene": [{"text": "SRC-3", "start": 5, "end": 10}], "disease": [{"text": "adenocarcinoma", "start": 121, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRC-3", "start": 5, "end": 10}, "tail": {"text": "adenocarcinoma", "start": 121, "end": 135}}]}}, "schema": []}
{"input": "Thymidylate synthase, thymidine phosphorylase, dihydropyrimidine dehydrogenase expression, and histological tumour regression after 5-FU-based neo-adjuvant chemoradiotherapy in rectal cancer.", "output": {"entities": {"gene": [{"text": "dihydropyrimidine dehydrogenase", "start": 47, "end": 78}], "disease": [{"text": "regression", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Here we report the screening of the TPIT gene in seven patients with IAD, four of whom had neonatal onset.", "output": {"entities": {"gene": [{"text": "TPIT", "start": 36, "end": 40}], "disease": [{"text": "IAD", "start": 69, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPIT", "start": 36, "end": 40}, "tail": {"text": "IAD", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.", "output": {"entities": {"gene": [{"text": "MAN2B1", "start": 50, "end": 56}], "disease": [{"text": "alpha-mannosidosis", "start": 92, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAN2B1", "start": 50, "end": 56}, "tail": {"text": "alpha-mannosidosis", "start": 92, "end": 110}}]}}, "schema": []}
{"input": "Mature granulomas were seen, surrounded by T cells and centered with epithelioid and multinucleated giant cells, yet reduced IFN-gamma concentrations were found to be secreted by activated natural killer and T cells.", "output": {"entities": {"gene": [{"text": "IFN", "start": 125, "end": 128}], "disease": [{"text": "granulomas", "start": 7, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Atrophic antral gastritis (AAG) was associated with CagA (+) status [odd ratio (OR) = 4. 1; P < 0. 000] and fruit consumption (OR = 0. 3; P < 0. 00).", "output": {"entities": {"gene": [{"text": "AAG", "start": 27, "end": 30}], "disease": [{"text": "gastritis", "start": 16, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Western blot analysis reveals that phosphorylation of Akt/protein kinase B (PKB) and to a lesser extent the mitogen-activated protein kinase extracellular signal-regulated kinase (ERK) 1/2, both essentially involved in Ang II-mediated hypertrophy, is dose dependently reduced by RV.", "output": {"entities": {"gene": [{"text": "ERK", "start": 180, "end": 183}], "disease": [{"text": "hypertrophy", "start": 235, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "They contain neutral/MUC1 gene-related mucin which in turn is closely associated with the trefoil-peptide pS2, a major component of the ulcer-associated cell lineage, previously termed pseudopyloric metaplasia.", "output": {"entities": {"gene": [{"text": "MUC1 gene", "start": 21, "end": 30}], "disease": [{"text": "ulcer", "start": 136, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These findings not only explain the beneficial effects of DHA/EPA, but also point to ERK/STAT3/MMP10 as the potential targets for gastric cancer treatment.", "output": {"entities": {"gene": [{"text": "MMP10", "start": 95, "end": 100}], "disease": [{"text": "gastric cancer", "start": 130, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP10", "start": 95, "end": 100}, "tail": {"text": "gastric cancer", "start": 130, "end": 144}}]}}, "schema": []}
{"input": "PTEN is a novel tumour suppressor gene that encodes a dual-specificity phosphatase with homology to adhesion molecules tensin and auxillin.", "output": {"entities": {"gene": [{"text": "tensin", "start": 119, "end": 125}], "disease": [{"text": "adhesion", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Fibroblast growth factor-2 (FGF2) has been implied in the development of myopia according to previous studies investigating FGF2 in the sclera and retinal pigment epithelium.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 28, "end": 32}], "disease": [{"text": "myopia", "start": 73, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "To explore the association of STON2 with schizophrenia, 11 single nucleotide polymorphisms (SNPs) were examined in 768 Chinese Han schizophrenia cases and 1347 Chinese Han controls.", "output": {"entities": {"gene": [{"text": "STON2", "start": 30, "end": 35}], "disease": [{"text": "schizophrenia, 11", "start": 41, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STON2", "start": 30, "end": 35}, "tail": {"text": "schizophrenia, 11", "start": 41, "end": 58}}]}}, "schema": []}
{"input": "We established a cisplatin-resistant U87 glioma cell line and found that mda-7/IL-24 was highly correlated with drug resistance.", "output": {"entities": {"gene": [{"text": "U87", "start": 37, "end": 40}], "disease": [{"text": "glioma", "start": 41, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In a cohort of individuals with SCD in Tanzania (HbSS and HbS/β ° thalassemia, n = 726, aged 5 or older), HbF levels were positively correlated with hemoglobin, red blood cell (RBC) indices, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH), and negatively with white blood cell (WBC) and platelet counts (all P < 0. 0001).", "output": {"entities": {"gene": [{"text": "MCH", "start": 255, "end": 258}], "disease": [{"text": "mean corpuscular volume", "start": 191, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "In insulin-treated patients who matched the clinical criteria for PNDM, the KCNJ11 or ABCC8 genes were sequenced, and mutation carriers were invited for replacement of insulin with SU.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 76, "end": 82}], "disease": [{"text": "PNDM", "start": 66, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ11", "start": 76, "end": 82}, "tail": {"text": "PNDM", "start": 66, "end": 70}}]}}, "schema": []}
{"input": "Carriers of the IL-1B-511T/T genotype or IL-1RN * 2 allele had higher mucosal IL-1beta levels than noncarriers (partial regression coefficient [PRC] +/-SE), TT versus CC: 37. 6 +/-6 [antrum] and 32. 1 +/-6 [corpus] pg/mg protein (P < 0. 001 for each), * 1/* 2 versus * 1/* 1: 24 +/-8 [antrum] (P < 0. 01) and 36. 5 +/-7 [corpus] (P < 0. 001).", "output": {"entities": {"gene": [{"text": "IL-1RN", "start": 41, "end": 47}], "disease": [{"text": "regression", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported a high incidence of microsatellite instability (MSI) and germline mismatch repair (MMR) gene mutations in young Hong Kong Chinese with CRC.", "output": {"entities": {"gene": [{"text": "MMR", "start": 111, "end": 114}], "disease": [{"text": "microsatellite instability", "start": 48, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Similarly, STZ diabetic mgR/mgR and mgR/+ developed lower albuminuria than wild-type mice despite higher blood glucose levels in mgR/mgR and mgR/+ compared with wild-type mice.", "output": {"entities": {"gene": [{"text": "STZ", "start": 11, "end": 14}], "disease": [{"text": "albuminuria", "start": 58, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In 1, 282 patients with AD and 1, 312 healthy control subjects from five independent populations, a common variation in the vicinity of CH25H was significantly associated with the risk for sporadic AD (p = 0. 006).", "output": {"entities": {"gene": [{"text": "CH25H", "start": 136, "end": 141}], "disease": [{"text": "sporadic", "start": 189, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that a DPP-IV inhibitor may prevent peripheral nerve degeneration in a diabetes-induced animal model and support the idea that GLP-1 may be useful in peripheral neuropathy.", "output": {"entities": {"gene": [{"text": "DPP", "start": 26, "end": 29}], "disease": [{"text": "nerve degeneration", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In this study, we have used quantitative proteomics, iTRAQ technology coupled with 2D-nanoLC-nano-ESI-MS/MS and with a statistical model to uncover proteins that are significantly and reliably changed in the tears of dry eye patients in an effort to reveal potential biomarker candidates.", "output": {"entities": {"gene": [{"text": "ESI", "start": 98, "end": 101}], "disease": [{"text": "dry eye", "start": 217, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Taken together, we suggest that antagonism of the MCHR1 receptor may provide a novel approach for the treatment of affective disorders, including depression, with a potentially increased efficacy in women.", "output": {"entities": {"gene": [{"text": "MCHR1", "start": 50, "end": 55}], "disease": [{"text": "depression", "start": 146, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCHR1", "start": 50, "end": 55}, "tail": {"text": "depression", "start": 146, "end": 156}}]}}, "schema": []}
{"input": "Nominally significant single SNP and/or haplotype-based association results were detected in 15 genes, of which, MYO1D, ACCN1 and LASP1 stand out as genes with autism risk alleles requiring further study, with potential GRRs in the range of 1. 34-2. 29.", "output": {"entities": {"gene": [{"text": "MYO1D", "start": 113, "end": 118}], "disease": [{"text": "autism", "start": 160, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYO1D", "start": 113, "end": 118}, "tail": {"text": "autism", "start": 160, "end": 166}}]}}, "schema": []}
{"input": "In the xenograft model, tumor volume and weight were significantly suppressed in the co-treatment group, compared to the control, and the expressions of P-glycoprotein, Bcl-2 and cyclin B1 were reduced.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 169, "end": 174}], "disease": [{"text": "weight", "start": 41, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The XRCC6 SNP rs2284082 (NHEJ), also in LD with SREBF2, showed an interaction with smoking (smoking status interaction pgene = 0. 001, ppathway = 0. 008, poverall = 0. 034).", "output": {"entities": {"gene": [{"text": "XRCC6", "start": 4, "end": 9}], "disease": [{"text": "smoking", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "EC is the most frequent extra-colonic cancer in patients with hereditary non-polyposis colon cancer syndrome (HNPCC), characterized by germline mutations in the mismatch repair (MMR) genes and by microsatellite instability (MSI) in component tumors.", "output": {"entities": {"gene": [{"text": "MMR", "start": 178, "end": 181}], "disease": [{"text": "microsatellite instability", "start": 196, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "DISC1, a promising candidate susceptibility gene, encodes a protein which interacts with many other proteins, including CIT, NDEL1, NDE1, FEZ1 and PAFAH1B1, some of which also have been associated with psychosis.", "output": {"entities": {"gene": [{"text": "NDEL1", "start": 125, "end": 130}], "disease": [{"text": "psychosis", "start": 202, "end": 211}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDEL1", "start": 125, "end": 130}, "tail": {"text": "psychosis", "start": 202, "end": 211}}]}}, "schema": []}
{"input": "Our observations add to the evidence that mitochondrial ND5 protein coding gene mutations frequently associate with the MELAS phenotype, and it highlights the role of complex I dysfunction in MELAS.", "output": {"entities": {"gene": [{"text": "ND5", "start": 56, "end": 59}], "disease": [{"text": "MELAS", "start": 120, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND5", "start": 56, "end": 59}, "tail": {"text": "MELAS", "start": 120, "end": 125}}]}}, "schema": []}
{"input": "Both mRNA and protein expression levels of CK7 appear significantly higher in chromophobe RCC compared to oncocytoma (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "CK7", "start": 43, "end": 46}], "disease": [{"text": "oncocytoma", "start": 106, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CK7", "start": 43, "end": 46}, "tail": {"text": "oncocytoma", "start": 106, "end": 116}}]}}, "schema": []}
{"input": "To better understand the functional interaction between BRCA1 and MSH2, we studied the effect of the deletion of MSH2 gene on BRCA1-induced genome instability in yeast.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 56, "end": 61}], "disease": [{"text": "genome instability", "start": 140, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "These findings expand the phenotypic spectrum of SMA-PME caused by novel mutations in ASAH1 and highlight the clinical utility of WES for rare, intractable forms of epilepsy.", "output": {"entities": {"gene": [{"text": "ASAH1", "start": 86, "end": 91}], "disease": [{"text": "SMA-PME", "start": 49, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASAH1", "start": 86, "end": 91}, "tail": {"text": "SMA-PME", "start": 49, "end": 56}}]}}, "schema": []}
{"input": "We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t (6; 12) (p21; q24. 3) translocation.", "output": {"entities": {"gene": [{"text": "PHF1", "start": 62, "end": 66}], "disease": [{"text": "translocation", "start": 213, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11 {beta}-hydroxylase deficiency.", "output": {"entities": {"gene": [{"text": "CYP11B1", "start": 56, "end": 63}], "disease": [{"text": "11 {beta}-hydroxylase deficiency", "start": 148, "end": 180}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP11B1", "start": 56, "end": 63}, "tail": {"text": "11 {beta}-hydroxylase deficiency", "start": 148, "end": 180}}]}}, "schema": []}
{"input": "In palladium sensitive patients, there were significant increases of DRB4 (R. R. = 15. 48, p & lt; 0. 05), DR4 (R. R. = 13. 27, p & lt; 0. 005), DRB1 * 0405 (R. R. = 4. 43, p & lt; 0. 05), and DQB1 * 0401 (R. R.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 145, "end": 149}], "disease": [{"text": "sensitive", "start": 13, "end": 22}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DRB1", "start": 145, "end": 149}, "tail": {"text": "sensitive", "start": 13, "end": 22}}]}}, "schema": []}
{"input": "In conclusion, urinary cystatin C, β2-microglobulin, clusterin, GST-α, GST-μ, KIM-1, and NGAL could be useful biomarkers of renal damage in anti-GBM glomerulonephritis rats.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 89, "end": 93}], "disease": [{"text": "glomerulonephritis", "start": 149, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Therefore, serum PRL may have a potential role as a biological marker of drug severity and treatment outcome in cocaine dependence.", "output": {"entities": {"gene": [{"text": "PRL", "start": 17, "end": 20}], "disease": [{"text": "cocaine dependence", "start": 112, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRL", "start": 17, "end": 20}, "tail": {"text": "cocaine dependence", "start": 112, "end": 130}}]}}, "schema": []}
{"input": "IL-17A and IL-17F are new pro-inflammatory cytokines implicated in neutrophilic inflammation and thus, involved in the pathogenesis of asthma.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 11, "end": 17}], "disease": [{"text": "inflammation", "start": 80, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Seven single nucleotide polymorphisms and haplotypes in MYBPH were investigated for hypertrophy modifying effects in 388 individuals (27 families), in which three unique South African HCM-causing founder mutations (p. R403W and pA797T in β-myosin heavy chain gene (MYH7) and p. R92W in the cardiac troponin T gene (TNNT2)) segregate.", "output": {"entities": {"gene": [{"text": "MYBPH", "start": 56, "end": 61}], "disease": [{"text": "hypertrophy", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In vitro, PIK3CA expression positively correlated with the expression of VEGF in ovarian cancer cells, whereas the phosphatidylinositol 3'-kinase inhibitor Ly294002 reduced both the constitutive and inducible expression of hypoxia-inducible factor-1alpha at the mRNA and protein levels and abrogated VEGF up-regulation by glucose starvation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 73, "end": 77}], "disease": [{"text": "starvation", "start": 330, "end": 340}]}, "relations": {}}, "schema": []}
{"input": "Linkage disequilibrium mapping of bipolar affective disorder at 12q23-q24 provides evidence for association at CUX2 and FLJ32356.", "output": {"entities": {"gene": [{"text": "CUX2", "start": 111, "end": 115}], "disease": [{"text": "bipolar affective disorder", "start": 34, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CUX2", "start": 111, "end": 115}, "tail": {"text": "bipolar affective disorder", "start": 34, "end": 60}}]}}, "schema": []}
{"input": "Physical association of HDAC1 and HDAC2 with p63 mediates transcriptional repression and tumor maintenance in squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "HDAC2", "start": 34, "end": 39}], "disease": [{"text": "squamous cell carcinoma", "start": 110, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC2", "start": 34, "end": 39}, "tail": {"text": "squamous cell carcinoma", "start": 110, "end": 133}}]}}, "schema": []}
{"input": "Intersectin enhances huntingtin aggregation and neurodegeneration through activation of c-Jun-NH2-terminal kinase.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 88, "end": 93}], "disease": [{"text": "neurodegeneration", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1 (I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 99, "end": 105}], "disease": [{"text": "Osteogenesis imperfecta type IV", "start": 0, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL1A1", "start": 99, "end": 105}, "tail": {"text": "Osteogenesis imperfecta type IV", "start": 0, "end": 31}}]}}, "schema": []}
{"input": "Three apoptosis-related genes (NOD2, DUSP1, and ADM) and 8 genes overexpressed in AD skin lesions (CCDC109B, CCL5, CCL8, IFI35, LYN, RAB31, IFITM1, and IFITM2) were induced by IFN-γ in primary keratinocytes.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 31, "end": 35}], "disease": [{"text": "skin lesions", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The human glioma cell lines U87 MG and U373 MG were transduced with Ad-p16, and cell viability was assessed by trypan blue staining.", "output": {"entities": {"gene": [{"text": "U87", "start": 28, "end": 31}], "disease": [{"text": "glioma", "start": 10, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Moreover, tumors were analyzed for microsatellite instability and expression of MMR proteins, as well as for somatic rearrangements in MLH1 and MSH2 by MLPA.", "output": {"entities": {"gene": [{"text": "MMR", "start": 80, "end": 83}], "disease": [{"text": "microsatellite instability", "start": 35, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The data are consistent with the scaffolding of monoaminergic signaling modules by PrP (C), and may help understand the pathogenesis of clinical depression and neurodegenerative disorders.", "output": {"entities": {"gene": [{"text": "PrP (C)", "start": 83, "end": 90}], "disease": [{"text": "clinical depression", "start": 136, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PrP (C)", "start": 83, "end": 90}, "tail": {"text": "clinical depression", "start": 136, "end": 155}}]}}, "schema": []}
{"input": "Case 3 had a plasmacytoma that showed monoclonal light chain restriction on IHC and an oligoclonal heavy chain rearrangement by PCR.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 99, "end": 110}], "disease": [{"text": "plasmacytoma", "start": 13, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "An atypical carcinoid tumor of the lung with mutations in the p53 gene and the retinoblastoma gene.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 62, "end": 70}], "disease": [{"text": "atypical carcinoid tumor", "start": 3, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "In melanoma xenograft models, CRM1 inhibition reduces tumor growth independent of BRAF or NRAS status and induces complete regression of BRAF V600E tumors when combined with BRAF inhibition.", "output": {"entities": {"gene": [{"text": "CRM1", "start": 30, "end": 34}], "disease": [{"text": "regression", "start": 123, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "FISH studies performed with P1-9, P1-12, and a set of overlapping 1F10 cosmid clones mapping telomeric to the NF1 locus identified large deletions in two new neurofibromatosis type 1 patients who, like previously characterized deletion patients, had mildly dysmorphic facial features and large numbers of cutaneous neurofibromas.", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "neurofibromatosis type 1", "start": 158, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Transthyretin (TTR) is a transport protein for thyroid hormones and vitamin A and might have an important role in the nervous system.", "output": {"entities": {"gene": [{"text": "TTR", "start": 15, "end": 18}], "disease": [{"text": "nervous system", "start": 118, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Branchio-oto-renal (BOR) syndrome is an autosomal dominant inherited disorder characterized by malformations of the ear associated with hearing impairment, branchial fistulae or cysts, and renal malformations.", "output": {"entities": {"gene": [{"text": "BOR", "start": 20, "end": 23}], "disease": [{"text": "hearing impairment", "start": 136, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "This report characterizes properties and requirements of the R376 residue in PCFT function, including a R376Q mutant associated with HFM.", "output": {"entities": {"gene": [{"text": "PCFT", "start": 77, "end": 81}], "disease": [{"text": "HFM", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCFT", "start": 77, "end": 81}, "tail": {"text": "HFM", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "This study is the first to report a nationwide AGS survey, which identified more patients with sporadic AGS carrying de novo dominant-type TREX1 mutations than expected.", "output": {"entities": {"gene": [{"text": "TREX1", "start": 139, "end": 144}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Deficiencies of GPI-anchored complement regulatory proteins, such as decay accelerating factor (DAF) and CD59, render red cells very sensitive to complement and result in complement-mediated hemolysis and hemoglobinuria.", "output": {"entities": {"gene": [{"text": "GPI", "start": 16, "end": 19}], "disease": [{"text": "hemolysis", "start": 191, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "This previously unidentified, recurrent mutation in U2AF1 implicates altered pre-mRNA splicing as a potential mechanism for MDS pathogenesis.", "output": {"entities": {"gene": [{"text": "U2AF1", "start": 52, "end": 57}], "disease": [{"text": "MDS", "start": 124, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "U2AF1", "start": 52, "end": 57}, "tail": {"text": "MDS", "start": 124, "end": 127}}]}}, "schema": []}
{"input": "Polymorphisms in the circadian genes NPAS2, ARNTL, and RORA were also suggested to contribute to depression vulnerability.", "output": {"entities": {"gene": [{"text": "NPAS2", "start": 37, "end": 42}], "disease": [{"text": "depression", "start": 97, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS2", "start": 37, "end": 42}, "tail": {"text": "depression", "start": 97, "end": 107}}]}}, "schema": []}
{"input": "In the ischemic-reperfused hearts, pressure overload did the following: (1) reduced interleukin-10 but increased interleukin-17 (cardiomyocytes), without affecting interleukin-23; (2) increased expressions of γH2AX and GADD153; (3) decreased 5, 5', 6, 6'-tetrachloro-1, 1', 3, 3'-tetraethylbenzimidazolylcarbocyanine iodide (JC-1) aggregates but increased JC-1 monomers (suggestive of reduced mitochondrial membrane potential, ψ (m)); and (4) increased annexin V immunostaining as well as apoptotic and necrotic cell death.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 453, "end": 462}], "disease": [{"text": "necrotic cell death", "start": 503, "end": 522}]}, "relations": {}}, "schema": []}
{"input": "The p53 mutation, therefore, seems to be related to tumour progression of small-intestinal cancer; however, no relationship was found between the PTEN/MMAC1 gene and the small-intestinal cancer.", "output": {"entities": {"gene": [{"text": "MMAC1", "start": 151, "end": 156}], "disease": [{"text": "intestinal cancer", "start": 80, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "To test whether the copy number variations (CNVs) of CD4 + T cell transcription factor genes including T-bet, GATA binding protein 3 (GATA)-3, related orphan receptor C (RORC) and forkhead box protein 3 (FOXP3) are associated with acute anterior uveitis either in the presence or absence of ankylosing spondylitis (AAU + AS +; AAU + AS-).", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 204, "end": 209}], "disease": [{"text": "acute anterior uveitis", "start": 231, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Since normal lung epithelium expresses bcl-2, a sequence of tumour progression involving loss of bcl-2, then activation of c-erbB-2 or increase in tumour vascularization is proposed.", "output": {"entities": {"gene": [{"text": "c-erbB-2", "start": 123, "end": 131}], "disease": [{"text": "vascularization", "start": 154, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The results lead to the suggestion that treatment with tricyclic antidepressants leads to changes in the EAAC1 mRNA expression in rat brain suggesting involvement of the glutamate system in the tricyclic treatment of depression.", "output": {"entities": {"gene": [{"text": "EAAC1", "start": 105, "end": 110}], "disease": [{"text": "depression", "start": 217, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EAAC1", "start": 105, "end": 110}, "tail": {"text": "depression", "start": 217, "end": 227}}]}}, "schema": []}
{"input": "Stable transfection of the Hsulf-1 negative Panc-1 pancreatic cancer cell line with a full length Hsulf-1 expression vector resulted in increased sulfatase activity and decreased cell-surface heparan-sulfate proteoglycan (HSPG) sulfation.", "output": {"entities": {"gene": [{"text": "HSPG", "start": 222, "end": 226}], "disease": [{"text": "pancreatic cancer", "start": 51, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Certain immunophenotypes (low CD11b, high HLA-Dr, CD34, CD13 and CD45), clonal granulocytes, multiple chromosomal abnormalities, chromosomal instability, short telomeres and high telomerase activity were also reported as PPF.", "output": {"entities": {"gene": [{"text": "CD45", "start": 65, "end": 69}], "disease": [{"text": "chromosomal instability", "start": 129, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Men heterozygous for the R451Q mutation (n = 7) had 27% higher CETP activity than age-, body mass index-, smoking-and alcohol consumption-matched controls with normal genotype (n = 21; P = 0. 003).", "output": {"entities": {"gene": [{"text": "CETP", "start": 63, "end": 67}], "disease": [{"text": "alcohol consumption", "start": 118, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Here we have shown that, in tumor samples with BCL2 translocation, those with high levels of BACH2 had significantly lower BCL2 transcript abundance compared to those with low levels of BACH2.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 47, "end": 51}], "disease": [{"text": "translocation", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The present work sought to ascertain the role of PVRL1 in the sporadic forms of orofacial clefting in multiple populations.", "output": {"entities": {"gene": [{"text": "PVRL1", "start": 49, "end": 54}], "disease": [{"text": "sporadic", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Patient A had enlarged pituitary gland (pituitary height: 9-10 mm), demonstrated by serial MRI carried out from age 5 to 8. 5 yr, small pituitary gland (4 mm) at age 10 yr and pituitary enlargement (11 mm) at age 19 yr.", "output": {"entities": {"gene": [{"text": "MRI", "start": 91, "end": 94}], "disease": [{"text": "height", "start": 50, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "PON2", "start": 256, "end": 260}], "disease": [{"text": "drinking", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that sirtuin1 (SIRT1), an antiaging protein, is reduced in lungs of CS-exposed mice and patients with COPD and that SIRT1 attenuates CS-induced lung inflammation and injury.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 36, "end": 41}], "disease": [{"text": "lung inflammation", "start": 165, "end": 182}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 36, "end": 41}, "tail": {"text": "lung inflammation", "start": 165, "end": 182}}]}}, "schema": []}
{"input": "We aimed to examine the association of APOE ε genotype with MRI markers of cerebrovascular disease (CVD): white matter hyperintensities, brain infarcts, and cerebral microbleeds.", "output": {"entities": {"gene": [{"text": "MRI", "start": 60, "end": 63}], "disease": [{"text": "cerebrovascular disease", "start": 75, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.", "output": {"entities": {"gene": [{"text": "ANKRD11", "start": 16, "end": 23}], "disease": [{"text": "KBG syndrome", "start": 176, "end": 188}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ANKRD11", "start": 16, "end": 23}, "tail": {"text": "KBG syndrome", "start": 176, "end": 188}}]}}, "schema": []}
{"input": "This study aimed to determine whether functionally active CX3CR1 genetic variants are associated with long-term nonprogressive infection of > 15 years in HIV-1-infected Spanish patients.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 58, "end": 64}], "disease": [{"text": "nonprogressive", "start": 112, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "HSulf-1 (heparan sulfate 6-O-endosulfatase 1), a commonly downregulated gene in the majority of ovarian cancer cell lines, has been identified to play an important role in regulating tumorigenesis.", "output": {"entities": {"gene": [{"text": "HSulf-1", "start": 0, "end": 7}], "disease": [{"text": "tumorigenesis", "start": 183, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We have retrospectively genotyped 8 single nucleotide polymorphisms (SNPs) in 6 candidate genes (MDM2, CDK4, CDC27, FPGS, IGFN1, and PRAMEF13) in 138 patients and 131 healthy control subjects to evaluate the effects of genetic factors on individual susceptibility to primary retroperitoneal liposarcoma in Chinese population.", "output": {"entities": {"gene": [{"text": "CDK4", "start": 103, "end": 107}], "disease": [{"text": "retroperitoneal liposarcoma", "start": 275, "end": 302}]}, "relations": {}}, "schema": []}
{"input": "TERT translocation from cytoplasm to the nucleus might be a turning point in cancer development.", "output": {"entities": {"gene": [{"text": "TERT", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Hybridization identified 11 hypoxia-induced genes: 1 involved with cell cycle control (CCNG2), 6 in stress response (IGFBP3, SLC2A3, GSTT2, FOS, DDIT3, AKR1C3), and 2 newly connected genes (Depp, AKAP4).", "output": {"entities": {"gene": [{"text": "GSTT2", "start": 133, "end": 138}], "disease": [{"text": "hypoxia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We investigated the antileukemia effects and molecular mechanisms of apoptosis induction by simultaneous blockade of PI3K and mutant FLT3 in AML cells grown under hypoxia in co-cultures with bone marrow stromal cells.", "output": {"entities": {"gene": [{"text": "FLT3", "start": 133, "end": 137}], "disease": [{"text": "hypoxia", "start": 163, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "There was no significant difference in 8-oxoG/OGG1 expressions between HCC and non-neoplastic tissues.", "output": {"entities": {"gene": [{"text": "HCC", "start": 71, "end": 74}], "disease": [{"text": "non-neoplastic", "start": 79, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The antioxidant N-acetyl-l-cysteine (NAC) had been shown to inhibit replication of seasonal human influenza A viruses.", "output": {"entities": {"gene": [{"text": "NAC", "start": 37, "end": 40}], "disease": [{"text": "human influenza", "start": 92, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The gender-specific effect of the COMT genotype suggests that the COMT Val/Met genotype may influence a personality trait, openness to experience, in males with panic disorder.", "output": {"entities": {"gene": [{"text": "COMT", "start": 34, "end": 38}], "disease": [{"text": "personality trait", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "To examine the association between 2 mitochondrial manganese superoxide dismutase (MnSOD) genetic polymorphisms (Ala-9Val and Ala-16Val) and prostate cancer susceptibility.", "output": {"entities": {"gene": [{"text": "manganese superoxide dismutase", "start": 51, "end": 81}], "disease": [{"text": "prostate cancer susceptibility", "start": 141, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The changes in TLR4, TLR2, CCL5 and TNFRSF1A mRNA expression were associated with an increase in insulin sensitivity index independently of the change in waist circumference (p < 0. 05).", "output": {"entities": {"gene": [{"text": "CCL5", "start": 27, "end": 31}], "disease": [{"text": "waist circumference", "start": 154, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We report two patients with a myeloproliferative disorder (Philadelphia chromosome-negative chronic myeloid leukemia) and t (5; 12) (q31; p12).", "output": {"entities": {"gene": [{"text": "p12", "start": 138, "end": 141}], "disease": [{"text": "myeloproliferative disorder", "start": 30, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, & #946;-tubulin, & #945;-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients.", "output": {"entities": {"gene": [{"text": "vimentin", "start": 147, "end": 155}], "disease": [{"text": "ACS", "start": 504, "end": 507}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vimentin", "start": 147, "end": 155}, "tail": {"text": "ACS", "start": 504, "end": 507}}]}}, "schema": []}
{"input": "To better understand the pathogenesis of the retinopathy component, the authors studied expression of the main regulatory protein of the beta-oxidation pathway, carnitine palmitoyltransferase (CPT) 1, and acyl-CoA dehydrogenase (ACAD) 9 in retinal sections and cultured cells.", "output": {"entities": {"gene": [{"text": "CPT", "start": 193, "end": 196}], "disease": [{"text": "retinopathy", "start": 45, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We also observed the development of skin keratoacanthoma lesions, probably because of aberrant ALK expression in keratinocytes.", "output": {"entities": {"gene": [{"text": "ALK", "start": 95, "end": 98}], "disease": [{"text": "keratoacanthoma", "start": 41, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "This report expands the knowledge of genotype-phenotype data on the p63 gene and suggests there may be a considerable overlap between the EEC syndrome and the ADULT syndrome.", "output": {"entities": {"gene": [{"text": "p63", "start": 68, "end": 71}], "disease": [{"text": "ADULT syndrome", "start": 159, "end": 173}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p63", "start": 68, "end": 71}, "tail": {"text": "ADULT syndrome", "start": 159, "end": 173}}]}}, "schema": []}
{"input": "These findings demonstrate the utility of exome sequencing in disease gene identification despite the combined complexities of locus heterogeneity, mixed models of transmission and frequent de novo mutation, and establish a fundamental role for KLHL3 and CUL3 in blood pressure, K (+) and pH homeostasis.", "output": {"entities": {"gene": [{"text": "KLHL3", "start": 245, "end": 250}], "disease": [{"text": "blood pressure", "start": 263, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "In a xenograft animal model, mice treated with CRAd and ad-TRAIL showed complete regression of established tumors, whereas mice treated with CRAd or ad-TRAIL alone did not.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 47, "end": 51}], "disease": [{"text": "regression", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Expression levels of macrophage genes (CD68, CD11b, CD206, CD16, CD40, and CD163) were lower in skeletal muscle tissue of obese versus lean participants.", "output": {"entities": {"gene": [{"text": "CD16", "start": 59, "end": 63}], "disease": [{"text": "obese", "start": 122, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD16", "start": 59, "end": 63}, "tail": {"text": "obese", "start": 122, "end": 127}}]}}, "schema": []}
{"input": "DNA was extracted from frozen gastrinomas from 51 patients and screened by dideoxyfinger-printing (ddF) for abnormalities in the 9 coding exons and adjacent splice junctions of the MEN1 gene.", "output": {"entities": {"gene": [{"text": "MEN1 gene", "start": 181, "end": 190}], "disease": [{"text": "abnormalities", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The observed 1. 8-fold elevated risk in premenopausal women with invasive breast cancer is highly suggestive of a possible interaction between UGT genotype and hormones.", "output": {"entities": {"gene": [{"text": "UGT", "start": 143, "end": 146}], "disease": [{"text": "invasive breast cancer", "start": 65, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Using homology to the rat mta1 gene, we cloned the human MTA1 gene and found it to be over-expressed in a variety of human cell lines (breast, ovarian, lung, gastric and colorectal cancer but not melanoma or sarcoma) and cancerous tissues (breast, esophageal, colorectal, gastric and pancreatic cancer).", "output": {"entities": {"gene": [{"text": "MTA1 gene", "start": 57, "end": 66}], "disease": [{"text": "esophageal", "start": 248, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "HSulf-1 inhibits angiogenesis and tumorigenesis in vivo.", "output": {"entities": {"gene": [{"text": "HSulf-1", "start": 0, "end": 7}], "disease": [{"text": "tumorigenesis", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In multivariable Cox proportional hazard regression models, SNPs of EXO1, MSH2, MSH3, PMS2L3, and TP73 in patients with localized disease, MSH2, MSH3, MSH6, and TP73 in patients with locally advanced or metastatic disease, and EXO1, MGMT, MSH2, MSH3, MSH6, PMS2L3, and TP73 in all patients remained significant predictors for OS (p ≤. 0015) after adjusting for all clinical predictors and all SNPs with p ≤. 0015 in single-locus analysis.", "output": {"entities": {"gene": [{"text": "TP73", "start": 98, "end": 102}], "disease": [{"text": "regression", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "EGFR mutations were associated with adenocarcinoma (p = 0. 002), female gender (p = 0. 02), never-smoking (p < 0. 0001), Asian ethnicity (p = 0. 005), air bronchograms (p = 0. 004), and multiple wedge resections (p = 0. 03).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Our results show that the decreased radixin functions affect the interaction between radixin and ABC transporters in inflammation.", "output": {"entities": {"gene": [{"text": "radixin", "start": 36, "end": 43}], "disease": [{"text": "inflammation", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "delivery into subcutaneous mouse models of breast cancer, the nanodrug showed a preferential tumor uptake, which could be visualized by MRI and near-IR optical imaging.", "output": {"entities": {"gene": [{"text": "MRI", "start": 136, "end": 139}], "disease": [{"text": "breast cancer", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that EGFR mutations were linked to female sex, absence of smoking, late age at diagnosis, and adenocarcinoma (ADC) with bronchioloalveolar (BAC) features.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 21, "end": 25}], "disease": [{"text": "smoking", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Reduced neutrophil adhesion to infected RPE cells correlated with HCMV-induced up-regulation of constitutive Fas ligand (FasL) expression.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 109, "end": 119}], "disease": [{"text": "adhesion", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we found that GluK4 is a key mediator of excitotoxic neurodegeneration: GluK4 knockout mice showed robust neuroprotection in the CA3 region of the hippocampus following intrahippocampal injection of kainate and widespread neuroprotection throughout the hippocampus following hypoxia-ischemia.", "output": {"entities": {"gene": [{"text": "CA3", "start": 142, "end": 145}], "disease": [{"text": "neurodegeneration", "start": 66, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The nuclear factor erythroid 2-related factor 2 and antioxidant-response element (Nrf2-ARE) pathway is a key regulator for modulating inflammation and oxidative damage, which are involved in the pathogenesis of early brain injury (EBI) after subarachnoid hemorrhage (SAH).", "output": {"entities": {"gene": [{"text": "SAH", "start": 267, "end": 270}], "disease": [{"text": "inflammation", "start": 134, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "These include analysis of microsatellite instability (MSI), immunohistochemistry of mismatch repair (MMR) proteins, segregation data, frequency of the variants in control samples, presence of other pathogenic mutations, and functional and mRNA analyses.", "output": {"entities": {"gene": [{"text": "MMR", "start": 101, "end": 104}], "disease": [{"text": "microsatellite instability", "start": 26, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "However, sXBP1 was induced in SF by TLR4 and TLR2 stimulation, resulting in sXBP1-dependent interleukin-6 and tumour necrosis factor (TNF) production.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 36, "end": 40}], "disease": [{"text": "necrosis", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "These observations imply that HCN4 abnormalities may be involved in the pathogenesis of various arrhythmias, similar to the SCN5A mutations.", "output": {"entities": {"gene": [{"text": "HCN4", "start": 30, "end": 34}], "disease": [{"text": "abnormalities", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Studies have indicated that the t (14; 18) (q32; q21)/IGH-MALT1 translocation is present in extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue (MALT lymphoma).", "output": {"entities": {"gene": [{"text": "MALT1", "start": 58, "end": 63}], "disease": [{"text": "translocation", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We used expression-matched transgenic mouse lines to compare the effects of different human amyloid protein precursors (hAPP) and their products on plaque formation and SYN-IR presynaptic terminals.", "output": {"entities": {"gene": [{"text": "SYN", "start": 169, "end": 172}], "disease": [{"text": "plaque", "start": 148, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We examined 209 single-nucleotide polymorphisms (SNPs) covering 19 circadian genes (ADCYAP1, ARNTL, ARNTL2, BHLHB2, BHLHB3, CLOCK, CRY1, CRY2, CSNK1E, DBP, NPAS2, NR1D1, PER1, PER2, PER3, RORA, TIMELESS, VIP, and VIPR2) in a sample of 534 MD patients (335 with unipolar major mood depression (MDD) and 199 with bipolar disorder (BD)) and 440 community-based screened controls.", "output": {"entities": {"gene": [{"text": "VIPR2", "start": 213, "end": 218}], "disease": [{"text": "depression", "start": 281, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "We have previously described the involvement of the transcription factors, nuclear factor I-C2 (NFI-C2) and Forkhead box F1 (FoxF1), in the regulation of EMT and invasion during breast tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 154, "end": 157}], "disease": [{"text": "tumor progression", "start": 185, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Hepcidin was positively associated with IL-6 and IL-10 levels and with parasitaemia in subjects with mild malaria and with IFN-γ in subjects with severe malaria.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 49, "end": 54}], "disease": [{"text": "mild", "start": 101, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the up-regulation of Axl was induced by TGF-β1, further activated phosphatidylinositol 3-kinase (PI3K)/Akt and PAK1 translocation, and resulted in greater cell motility, invasion, and chemoresistance in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "PAK1", "start": 121, "end": 125}], "disease": [{"text": "translocation", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Such neurodegeneration may be precipitated by (RCAN1-1L-mediated) prolonged calcineurin inhibition and GSK-3β induction/activation, both of which promote tau hyperphosphorylation, and/or by (RCAN1-1L-mediated) effects on the mitochondrial ANT, diminished ATP/ADP ratio, opening of the mtPTP, and mitochondrial autophagy.", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 47, "end": 52}], "disease": [{"text": "neurodegeneration", "start": 5, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Here we describe 33 patients with PYCR1-related ARCL from 27 families with initial diagnoses varying between wrinkly skin syndrome, gerodermia osteodysplastica, De Barsy syndrome or more severe progeria syndromes.", "output": {"entities": {"gene": [{"text": "PYCR1", "start": 34, "end": 39}], "disease": [{"text": "gerodermia osteodysplastica", "start": 132, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PYCR1", "start": 34, "end": 39}, "tail": {"text": "gerodermia osteodysplastica", "start": 132, "end": 159}}]}}, "schema": []}
{"input": "equisimilis induced arthritis in the ankle joints of CD46 Tg mice as a consequence of the prolonged inflammation associated with focal bone loss.", "output": {"entities": {"gene": [{"text": "CD46", "start": 53, "end": 57}], "disease": [{"text": "inflammation", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In addition, ALC is known to produce a strong antinociceptive effect when given after neuropathic pain has been established.", "output": {"entities": {"gene": [{"text": "ALC", "start": 13, "end": 16}], "disease": [{"text": "neuropathic pain", "start": 86, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Induction of transcriptional activity of HIF-1alpha by hypoxia or irradiation requires an intact TGF-beta signalling cascade.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 97, "end": 105}], "disease": [{"text": "hypoxia", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Intramuscular injection of HGF plasmid once on day 10 after surgery produced significant augmentation of collateral vessel development on day 30 in the ischemia model, as assessed by angiography (P < 0. 01).", "output": {"entities": {"gene": [{"text": "HGF", "start": 27, "end": 30}], "disease": [{"text": "ischemia", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Conversely, LCA inhibited EphA2 phosphorylation induced by ephrinA1-Fc in PC3 and HT29 human prostate and colon adenocarcinoma cell lines (IC (50) = 48 and 66 µM, respectively) without affecting cell viability or other receptor tyrosine-kinase (EGFR, VEGFR, IGFR1β, IRKβ) activity.", "output": {"entities": {"gene": [{"text": "PC3", "start": 74, "end": 77}], "disease": [{"text": "colon adenocarcinoma", "start": 106, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We investigated 56 abstinent patients hypothesizing that four subgroups of abstinent alcoholics with regard to family history (FHP: family history positive, FHN: family history negative) and antisocial behavior (ASP: antisocial traits present, ASN: antisocial traits not present) would exhibit differences in P300, particularly when recorded by frontal electrodes.", "output": {"entities": {"gene": [{"text": "P300", "start": 309, "end": 313}], "disease": [{"text": "antisocial", "start": 191, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The erg2 and erg3 genes are expressed exclusively in the nervous system, in marked contrast to erg1, which is expressed in both neural and non-neural tissues.", "output": {"entities": {"gene": [{"text": "erg3", "start": 13, "end": 17}], "disease": [{"text": "nervous system", "start": 57, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "By contrast, one GJB2-unrelated case showed a semantic disorder, another demonstrated a visual cognitive disorder with dyslexia, and another had attention deficit-hyperactivity disorder.", "output": {"entities": {"gene": [{"text": "GJB2", "start": 17, "end": 21}], "disease": [{"text": "dyslexia", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Melatonin (MLT) is a pleiotropic neurohormone controlling many physiological processes and whose dysfunction may contribute to several different diseases, such as neurodegenerative diseases, circadian and mood disorders, insomnia, type 2 diabetes and pain.", "output": {"entities": {"gene": [{"text": "MLT", "start": 11, "end": 14}], "disease": [{"text": "mood disorders", "start": 205, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "To investigate the potential role of the notch ligand delta-like ligand 4 (DLL4) in glioma angiogenesis, we examined whether its expression correlates with that of vascular endothelial growth factor (VEGF) and hypoxia-induced factor-1α (HIF-1α).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 200, "end": 204}], "disease": [{"text": "hypoxia", "start": 210, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Eight of the tumours contained the translocation t (14; 18) at the major breakpoint region (MBR) of BCL-2.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 100, "end": 105}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "This study aims to explore the associations of polymorphisms in inflammation-related genes (IL10, IL10RA, IL6R, TNFRSF1A, TNFRSF1B, LTA and IL4) and their interactions with the risk of colorectal cancer among Chinese population.", "output": {"entities": {"gene": [{"text": "TNFRSF1B", "start": 122, "end": 130}], "disease": [{"text": "inflammation", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Of the 70 cases of gastric adenocarcinoma, the expressions of NeuroD, chromogranin A, and synaptophysin were detected in 17 (24. 3%), four (5. 7%), and 24 cases (34. 3%), respectively, with preferential expressions in a non-solid type of poorly differentiated adenocarcinoma.", "output": {"entities": {"gene": [{"text": "NeuroD", "start": 62, "end": 68}], "disease": [{"text": "gastric adenocarcinoma", "start": 19, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Results indicate that the GPIbalpha mutation, Gly233Val, promotes and stabilizes platelet adhesion to VWF at shear rates that do not support binding between the native receptor-ligand pair due to enhanced formation and increased longevity of the mutant tether bond (k0 off values for mutant versus native complex of 0. 67 +/-0. 11 s-1 and 3. 45 +/-0. 37 s-1, respectively).", "output": {"entities": {"gene": [{"text": "GPIbalpha", "start": 26, "end": 35}], "disease": [{"text": "adhesion", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "These novel findings emphasize the molecular heterogeneity of this group of genodermatoses, and attest to the importance of BPAG2 in maintaining adhesion between the epidermis and the dermis.", "output": {"entities": {"gene": [{"text": "BPAG2", "start": 124, "end": 129}], "disease": [{"text": "adhesion", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Thus, Gas6 enhances platelet degranulation and aggregation responses through its known receptors, promoting platelet activation and mediating thrombus formation such that its inhibition prevents thrombosis without increasing bleeding.", "output": {"entities": {"gene": [{"text": "Gas6", "start": 6, "end": 10}], "disease": [{"text": "thrombosis", "start": 195, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gas6", "start": 6, "end": 10}, "tail": {"text": "thrombosis", "start": 195, "end": 205}}]}}, "schema": []}
{"input": "To examine the role of CpG methylation and histone deacetylation in the silencing of UCHL1, human gallbladder carcinoma cell lines and pancreatic carcinoma cell lines were treated with 2 or 5 μmol/L 5-AZA-dC for 72 h or 100 nmol/L Trichostatin A for 24 h. After the treatment, UCHL1 expression was analyzed by real-time reverse transcription-polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "UCHL1", "start": 85, "end": 90}], "disease": [{"text": "pancreatic carcinoma", "start": 135, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The present study demonstrated that manifestation and disappearance of depression-like behavior are in parallel with increase and decrease in cortical neuronal excitability in mice and suggested that regulation of BK channels by Homer1a is involved in this parallelism.", "output": {"entities": {"gene": [{"text": "Homer1a", "start": 229, "end": 236}], "disease": [{"text": "depression", "start": 71, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Homer1a", "start": 229, "end": 236}, "tail": {"text": "depression", "start": 71, "end": 81}}]}}, "schema": []}
{"input": "Under hypoxic conditions, RPE cells undergo EMT.", "output": {"entities": {"gene": [{"text": "RPE", "start": 26, "end": 29}], "disease": [{"text": "hypoxic", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "We report triple heterozygosity in the integrin alpha (IIb) subunit in a 5-year-old Canadian girl with Glanzmann' s thrombasthenia.", "output": {"entities": {"gene": [{"text": "integrin alpha (IIb", "start": 39, "end": 58}], "disease": [{"text": "Glanzmann' s thrombasthenia", "start": 103, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "integrin alpha (IIb", "start": 39, "end": 58}, "tail": {"text": "Glanzmann' s thrombasthenia", "start": 103, "end": 130}}]}}, "schema": []}
{"input": "Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3.", "output": {"entities": {"gene": [{"text": "Toll-like receptor 3", "start": 154, "end": 174}], "disease": [{"text": "chronic mucocutaneous candidiasis", "start": 28, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The influence of polymorphism in the glutathione S-transferase, GSTM3 gene on susceptibility to cutaneous basal cell carcinoma (BCC) has been investigated.", "output": {"entities": {"gene": [{"text": "GSTM3 gene", "start": 64, "end": 74}], "disease": [{"text": "basal cell carcinoma", "start": 106, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "DPP-4 inhibition increases plasma GLP-1 levels, particularly in uremia, and reduces expression of cardiac mRNA levels of matrix proteins and B-type natriuretic peptides (BNP).", "output": {"entities": {"gene": [{"text": "DPP", "start": 0, "end": 3}], "disease": [{"text": "uremia", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Clinical diagnosis of IVA can be confirmed on mutation analysis of the IVD gene.", "output": {"entities": {"gene": [{"text": "IVD", "start": 71, "end": 74}], "disease": [{"text": "IVA", "start": 22, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IVD", "start": 71, "end": 74}, "tail": {"text": "IVA", "start": 22, "end": 25}}]}}, "schema": []}
{"input": "Intriguingly, various mutations in the OPA3 gene lead to two similar diseases in humans: autosomal dominant inherited optic atrophy and cataract (ADOAC) and a metabolic condition; type 3-methylglutaconic aciduria (MGA).", "output": {"entities": {"gene": [{"text": "MGA", "start": 214, "end": 217}], "disease": [{"text": "3-methylglutaconic aciduria", "start": 185, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "This pattern was maintained in secondary GBM and further confirmed by immunohistochemistry, suggesting a role for ID4, SOX2 and SOX4 in early astrocytoma tumorigenesis.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 119, "end": 123}], "disease": [{"text": "tumorigenesis", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Genotypes were examined in relationship to HDL-C, CETP activity, CETP concentration, and three measures of subclinical cardiovascular disease (CVD): coronary artery calcium (CAC) measured by fast CT scanning, carotid intimal-medial thickness (IMT), and carotid artery plaque measured by ultrasonography.", "output": {"entities": {"gene": [{"text": "CAC", "start": 174, "end": 177}], "disease": [{"text": "plaque", "start": 268, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "These data indicated that nucleocytoplasmic shuttling protein, CIZ, plays a pivotal role in the response of bone mass in unloading condition.", "output": {"entities": {"gene": [{"text": "CIZ", "start": 63, "end": 66}], "disease": [{"text": "bone mass", "start": 108, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 90, "end": 95}], "disease": [{"text": "Fanconi Anemia", "start": 120, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 90, "end": 95}, "tail": {"text": "Fanconi Anemia", "start": 120, "end": 134}}]}}, "schema": []}
{"input": "The autophagic function of TRIM20 is affected by mutations associated with familial Mediterranean fever.", "output": {"entities": {"gene": [{"text": "TRIM20", "start": 27, "end": 33}], "disease": [{"text": "familial Mediterranean fever", "start": 75, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIM20", "start": 27, "end": 33}, "tail": {"text": "familial Mediterranean fever", "start": 75, "end": 103}}]}}, "schema": []}
{"input": "The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.", "output": {"entities": {"gene": [{"text": "DTX3", "start": 99, "end": 103}], "disease": [{"text": "breast tumors", "start": 212, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DTX3", "start": 99, "end": 103}, "tail": {"text": "breast tumors", "start": 212, "end": 225}}]}}, "schema": []}
{"input": "Translocations or isochromosome formations at sites of low-copy DNA repeats in 17p10 to 17p12 appear to be the mechanism for the loss of TP53 in B-CLL.", "output": {"entities": {"gene": [{"text": "TP53", "start": 137, "end": 141}], "disease": [{"text": "B-CLL", "start": 145, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP53", "start": 137, "end": 141}, "tail": {"text": "B-CLL", "start": 145, "end": 150}}]}}, "schema": []}
{"input": "Léri-Weill dyschondrosteosis (LWD, MIM 127300), is a dominantly inherited skeletal dysplasia with disproportionate short stature, mesomelic limb shortening, and the characteristic Madelung deformity.", "output": {"entities": {"gene": [{"text": "MIM", "start": 35, "end": 38}], "disease": [{"text": "dyschondrosteosis", "start": 11, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Three hundred fifty-four patients (38. 5%) had deficiency of antithrombin (AT, n = 16), protein C (PC, n = 26), protein S (PS, n = 22), factor V Leiden (FVL, n = 168), prothrombin G20210A (PT-GA, n = 87), or multiple abnormalities (n = 35), and 566 had none of the studied thrombophilic abnormalities.]", "output": {"entities": {"gene": [{"text": "protein C", "start": 88, "end": 97}], "disease": [{"text": "multiple abnormalities", "start": 208, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "CH25H maps to a region within 10q23 that has been previously linked to sporadic AD.", "output": {"entities": {"gene": [{"text": "CH25H", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "This is a case-control association study of sporadic AD, VaD, and single-nucleotide polymorphisms in ESR1 (rs2234693 and rs9340799), the TA dinucleotide repeat in the ESR1 promoter, and the rs4986938 single-nucleotide polymorphism in ESR2.", "output": {"entities": {"gene": [{"text": "ESR2", "start": 234, "end": 238}], "disease": [{"text": "sporadic", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Analysis with isogenic pairs of cell lines, differing in p53 status, revealed that Plk1 depletion preferentially induced mitotic arrest, aneuploidy, and reduced cell survival in the p53-defective cell lines.", "output": {"entities": {"gene": [{"text": "Plk1", "start": 83, "end": 87}], "disease": [{"text": "aneuploidy", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the human ABCC6 gene cause pseudoxanthoma elasticum (PXE), an autosomal recessive disease characterized by ectopic calcification of the elastic fibers in dermal, ocular and vascular tissues.", "output": {"entities": {"gene": [{"text": "ABCC6 gene", "start": 23, "end": 33}], "disease": [{"text": "ectopic calcification", "start": 120, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.", "output": {"entities": {"gene": [{"text": "SPATA7", "start": 13, "end": 19}], "disease": [{"text": "retinitis pigmentosa", "start": 66, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPATA7", "start": 13, "end": 19}, "tail": {"text": "retinitis pigmentosa", "start": 66, "end": 86}}]}}, "schema": []}
{"input": "In summary, the mice in which transactive response DNA-binding protein 43 was knocked-out specifically in postnatal motor neurons exhibited an age-dependent progressive motor dysfunction accompanied by neuropathological alterations, which are common to sporadic amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 51, "end": 70}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 262, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "Transfection of cell lines with ZNHIT3 expression vectors showed that the PEHO syndrome mutant protein is unstable.", "output": {"entities": {"gene": [{"text": "ZNHIT3", "start": 32, "end": 38}], "disease": [{"text": "PEHO syndrome", "start": 74, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZNHIT3", "start": 32, "end": 38}, "tail": {"text": "PEHO syndrome", "start": 74, "end": 87}}]}}, "schema": []}
{"input": "Mutations in the acetylcholine transferase (CHAT) gene cause a pre-synaptic CMS, typically associated with episodic apnoea and worsening of myasthenic symptoms during crises caused by infections, fever or stress.", "output": {"entities": {"gene": [{"text": "CHAT", "start": 44, "end": 48}], "disease": [{"text": "fever", "start": 196, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, inhibition of ROS by either N-acetyl-L-cysteine (NAC), a peroxide inhibitor, or Tempol, a superoxide inhibitor, increased the annexin V-/propidium iodide (PI) + early necrotic population in TRAIL-treated cells.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 140, "end": 149}], "disease": [{"text": "necrotic", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine whether antisense oligonucleotides directed at the bcl-xl gene product would augment response to a conventional chemotherapeutic agent in human mesothelioma cell lines.", "output": {"entities": {"gene": [{"text": "bcl-xl", "start": 74, "end": 80}], "disease": [{"text": "mesothelioma", "start": 167, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 91, "end": 96}], "disease": [{"text": "Charcot-Marie-Tooth disease type 1A", "start": 0, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 91, "end": 96}, "tail": {"text": "Charcot-Marie-Tooth disease type 1A", "start": 0, "end": 35}}]}}, "schema": []}
{"input": "The Mad1-Mad2 balancing act--a damaged spindle checkpoint in chromosome instability and cancer.", "output": {"entities": {"gene": [{"text": "Mad1", "start": 4, "end": 8}], "disease": [{"text": "chromosome instability", "start": 61, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Sajabal (EAPP) is effective at preventing inflammation-associated colon cancer, and if so, to identify the signaling pathways involved.", "output": {"entities": {"gene": [{"text": "EAPP", "start": 9, "end": 13}], "disease": [{"text": "colon cancer", "start": 66, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Small-fiber neuropathy Nav1. 8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.", "output": {"entities": {"gene": [{"text": "Nav1. 8", "start": 23, "end": 30}], "disease": [{"text": "neuropathy", "start": 12, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "One patient who was a BRCA1 carrier had high-grade ductal carcinoma in situ (DCIS) that was screen detected by MRI but that was missed on mammography.", "output": {"entities": {"gene": [{"text": "MRI", "start": 111, "end": 114}], "disease": [{"text": "ductal carcinoma in situ", "start": 51, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Here we provide evidence that CD40L + IL-4, IL-8 or IL-6 enhance adhesion to stromal cells, with IL-6 showing a selective effect on ZAP-70 positive cells.", "output": {"entities": {"gene": [{"text": "ZAP-70", "start": 132, "end": 138}], "disease": [{"text": "adhesion", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that COX-2-derived mediators serve an important hepato-protective function and that COX inhibition may contribute to the risk of drug-induced liver injury, possibly through both nonimmunological and immunological pathways.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 28, "end": 33}], "disease": [{"text": "drug-induced liver injury", "start": 152, "end": 177}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "COX-2", "start": 28, "end": 33}, "tail": {"text": "drug-induced liver injury", "start": 152, "end": 177}}]}}, "schema": []}
{"input": "Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia.", "output": {"entities": {"gene": [{"text": "RPS27", "start": 90, "end": 95}], "disease": [{"text": "Diamond-Blackfan anaemia", "start": 122, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RPS27", "start": 90, "end": 95}, "tail": {"text": "Diamond-Blackfan anaemia", "start": 122, "end": 146}}]}}, "schema": []}
{"input": "The characteristic DFSP-associated translocation, t (17; 22) (q22; q13), was identified in 6 patients; results of fluorescence in situ hybridization were positive for fusion of the COL1A1 and PDGFB loci in 7 patients; and RT-PCR showed the COL1A1-PDGFB fusion transcript in 6 patients.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 181, "end": 187}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Considerable efforts have been made to amplify angiogenesis under conditions of hypoxia and ischemia by vascular endothelial growth factor (VEGF) delivery, so far with limited success.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 140, "end": 144}], "disease": [{"text": "hypoxia", "start": 80, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Indirectly, these data support treating symptomatic patients with mild/moderate GD with low-dose ERT and re-evaluating the use of ERT in asymptomatic patients.", "output": {"entities": {"gene": [{"text": "ERT", "start": 97, "end": 100}], "disease": [{"text": "mild", "start": 66, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "IL-9 was not detected in airways of healthy or mild asthmatic individuals.", "output": {"entities": {"gene": [{"text": "IL-9", "start": 0, "end": 4}], "disease": [{"text": "mild", "start": 47, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In this study, we tested the leukocyte mRNA expression levels of genes belonging to glucocorticoid receptor (GR) function (FKBP-4, FKBP-5, and GR), inflammation (interleukin (IL)-1 & #945;, IL-1 & #946;, IL-4, IL-6, IL-7, IL-8, IL-10, macrophage inhibiting factor (MIF), and tumor necrosis factor (TNF)-& #945;), and neuroplasticity (brain-derived neurotrophic factor (BDNF), p11 and VGF), in healthy controls (n = 34) and depressed patients (n = 74), before and after 8 weeks of treatment with escitalopram or nortriptyline, as part of the Genome-based Therapeutic Drugs for Depression study.", "output": {"entities": {"gene": [{"text": "VGF", "start": 384, "end": 387}], "disease": [{"text": "Depression", "start": 576, "end": 586}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGF", "start": 384, "end": 387}, "tail": {"text": "Depression", "start": 576, "end": 586}}]}}, "schema": []}
{"input": "A study of the combined effects of the EHD3 and FREM3 genes in patients with major depressive disorder.", "output": {"entities": {"gene": [{"text": "FREM3", "start": 48, "end": 53}], "disease": [{"text": "major depressive disorder", "start": 77, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FREM3", "start": 48, "end": 53}, "tail": {"text": "major depressive disorder", "start": 77, "end": 102}}]}}, "schema": []}
{"input": "Among 331 candidate HCC markers, the three AKT kinase family members (AKT1-AKT3) were selected for clinical validation by immunohistochemistry analysis using 130 HCC specimens and matched adjacent non-neoplastic liver tissues.", "output": {"entities": {"gene": [{"text": "HCC", "start": 20, "end": 23}], "disease": [{"text": "non-neoplastic", "start": 197, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Primary hypertrophic osteoarthropathy (PHO (MIM 167100)) is a rare genetic disease characterized by pachyderma, periostosis and digital clubbing.", "output": {"entities": {"gene": [{"text": "MIM", "start": 44, "end": 47}], "disease": [{"text": "periostosis", "start": 112, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation in the Na (+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.", "output": {"entities": {"gene": [{"text": "SGLT1", "start": 61, "end": 66}], "disease": [{"text": "congenital glucose-galactose malabsorption", "start": 85, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGLT1", "start": 61, "end": 66}, "tail": {"text": "congenital glucose-galactose malabsorption", "start": 85, "end": 127}}]}}, "schema": []}
{"input": "In some HPRT-deficient patients the enzyme defect appeared to be \" partial \" and the neurologic symptoms mild to severe (Kelley-Seegmiller syndrome).", "output": {"entities": {"gene": [{"text": "HPRT", "start": 8, "end": 12}], "disease": [{"text": "mild", "start": 105, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "IL-17F-induced CCL20 may attract Th17 cells into the airway resulting in the recruitment of additional Th17 cells to enhance allergic airway inflammation.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 0, "end": 6}], "disease": [{"text": "inflammation", "start": 141, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "In this study, we showed that progranulin-deficient mice displayed increased depression-and disinhibition-like behavior, as well as deficits in social recognition from a relatively young age.", "output": {"entities": {"gene": [{"text": "progranulin", "start": 30, "end": 41}], "disease": [{"text": "depression", "start": 77, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "progranulin", "start": 30, "end": 41}, "tail": {"text": "depression", "start": 77, "end": 87}}]}}, "schema": []}
{"input": "A specific antagonist to either the human PACAP-specific receptor or the vasoactive intestinal peptide receptor attenuated the suppressive effect of PACAP on IL-6 production in the adhesion of human multiple myeloma cells to BMSCs.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 42, "end": 47}], "disease": [{"text": "adhesion", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "The sarcomas displayed compensatory activation of PERK or phospho-eIF2α independent upregulation of ATF4 in order to maintain ISR signaling, indicating that this pathway is critical for tumorigenesis.", "output": {"entities": {"gene": [{"text": "ATF4", "start": 100, "end": 104}], "disease": [{"text": "tumorigenesis", "start": 186, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "An analysis of the expression of the 6 target genes in primary medulloblastoma tumor samples and cell lines revealed overexpression of LYK5 and PIK3CG.", "output": {"entities": {"gene": [{"text": "LYK5", "start": 135, "end": 139}], "disease": [{"text": "medulloblastoma", "start": 63, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LYK5", "start": 135, "end": 139}, "tail": {"text": "medulloblastoma", "start": 63, "end": 78}}]}}, "schema": []}
{"input": "The risk factor of gallbladder cancer: hyperplasia of mucous epithelium caused by gallstones associates with p16/CyclinD1/CDK4 pathway.", "output": {"entities": {"gene": [{"text": "CDK4", "start": 122, "end": 126}], "disease": [{"text": "hyperplasia", "start": 39, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Following transient intraluminal middle cerebral artery (MCA) occlusions, VEGF overexpression significantly alleviated neurological deficits and infarct volume, and reduced disseminated neuronal injury and caspase-3 activity, confirming earlier observations that VEGF has neuroprotective properties.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 74, "end": 78}], "disease": [{"text": "infarct", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Exogenous netrin-1 suppressed hypoxia-elicited inflammation in wild-type but not in A2BAR-deficient mice, and inflammatory hypoxia was enhanced in Ntn1 (+/-) mice relative to that in Ntn1 (+/+) mice.", "output": {"entities": {"gene": [{"text": "Ntn1", "start": 147, "end": 151}], "disease": [{"text": "hypoxia", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that digoxin downregulated hypoxia-induced overexpression of VEGF and NDRG1 at the transcriptional level probably through the inhibition of HIF-1α synthesis in A549 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 81, "end": 85}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The dynamin-related GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited neuropathy of the retinal ganglion cells.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 27, "end": 31}], "disease": [{"text": "autosomal dominant optic atrophy", "start": 46, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 27, "end": 31}, "tail": {"text": "autosomal dominant optic atrophy", "start": 46, "end": 78}}]}}, "schema": []}
{"input": "β-Arrestin 1 is known to be involved in the pathophysiology of major depressive disorder (MDD) and in the underlying mechanism of action of antidepressant therapies.", "output": {"entities": {"gene": [{"text": "Arrestin 1", "start": 2, "end": 12}], "disease": [{"text": "major depressive disorder", "start": 63, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "To test the hypothesis that the increased glucocorticoids contribute to the diabetes and insulin resistance, we examined the effect of adrenalectomy on A-ZIP/F-1 mice.", "output": {"entities": {"gene": [{"text": "ZIP", "start": 154, "end": 157}], "disease": [{"text": "insulin resistance", "start": 89, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.", "output": {"entities": {"gene": [{"text": "SRCAP", "start": 74, "end": 79}], "disease": [{"text": "floating-harbor syndrome", "start": 8, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SRCAP", "start": 74, "end": 79}, "tail": {"text": "floating-harbor syndrome", "start": 8, "end": 32}}]}}, "schema": []}
{"input": "Mutation analysis also detected one known missense change (Arg25Cys) in NKX2. 5 gene in two (1. 1%) sporadic patients with TOF.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 72, "end": 79}], "disease": [{"text": "sporadic", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "ANKK1 and DRD2 pharmacogenetics of disulfiram treatment for cocaine abuse.", "output": {"entities": {"gene": [{"text": "ANKK1", "start": 0, "end": 5}], "disease": [{"text": "cocaine abuse", "start": 60, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANKK1", "start": 0, "end": 5}, "tail": {"text": "cocaine abuse", "start": 60, "end": 73}}]}}, "schema": []}
{"input": "In this article, the incidence and prevalence of HCC in patients with HH and other liver diseases associated with iron overload are discussed as well as the possible mechanisms for the increased risk for hepatic carcinogenesis in these disorders.", "output": {"entities": {"gene": [{"text": "HCC", "start": 49, "end": 52}], "disease": [{"text": "liver diseases", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Thus, Dll3-Notch1 double heterozygous mice model human congenital scoliosis and craniofacial disorders.", "output": {"entities": {"gene": [{"text": "Notch1", "start": 11, "end": 17}], "disease": [{"text": "scoliosis", "start": 66, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Notch1", "start": 11, "end": 17}, "tail": {"text": "scoliosis", "start": 66, "end": 75}}]}}, "schema": []}
{"input": "This study was carried out to evaluate whether it is effective to use mean corpuscular hemoglobin (MCH) < 27. 0 pg as a screening test in the first step of screening for Hb QS carriers in southern China.", "output": {"entities": {"gene": [{"text": "MCH", "start": 99, "end": 102}], "disease": [{"text": "mean corpuscular hemoglobin", "start": 70, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "UMP-CMPK2 mRNA expression was exclusively detected in chronic myelogenous leukemia K-562 and lymphoblastic leukemia MOLT-4 among eight studied cancer cell lines.", "output": {"entities": {"gene": [{"text": "UMP-CMPK2", "start": 0, "end": 9}], "disease": [{"text": "chronic myelogenous leukemia", "start": 54, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "This study showed antiangiogenic and antitumoral effects of SCE in three mice glioma models (C6, HGD and GL26).", "output": {"entities": {"gene": [{"text": "HGD", "start": 97, "end": 100}], "disease": [{"text": "glioma", "start": 78, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, IL-6-induced SOCS3 expression is inhibited by rapamycin, and ectopic expression of SOCS3 blocks the ability of rapamycin to enhance insulin sensitivity in the presence of IL-6.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 26, "end": 31}], "disease": [{"text": "insulin sensitivity", "start": 145, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The recent development of mouse cancer models harboring engineered mutations in Lkb1 have offered insights into how LKB1 may be functioning to restrain tumorigenesis and how its role as a master regulator of polarity and metabolism could contribute to its tumor suppressor function.", "output": {"entities": {"gene": [{"text": "Lkb1", "start": 80, "end": 84}], "disease": [{"text": "tumorigenesis", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Thirteen filiform SAs were evaluated for mutations of BRAF and KRAS genes, microsatellite instability (MSI), and promoter hypermethylation of hMLH1, MGMT, p16, MINT1, MINT2, MINT31 and the APC genes.", "output": {"entities": {"gene": [{"text": "MINT1", "start": 160, "end": 165}], "disease": [{"text": "microsatellite instability", "start": 75, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Finally, subcutaneous mouse model for HCC confirmed effectiveness of inhibition of aurora kinase/RalA pathway in reducing the tumorigenesis of HCC cells in vivo.", "output": {"entities": {"gene": [{"text": "RalA", "start": 97, "end": 101}], "disease": [{"text": "tumorigenesis", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "A study of the functional significance of epidermal growth factor in major depressive disorder.", "output": {"entities": {"gene": [{"text": "epidermal growth factor", "start": 42, "end": 65}], "disease": [{"text": "major depressive disorder", "start": 69, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "epidermal growth factor", "start": 42, "end": 65}, "tail": {"text": "major depressive disorder", "start": 69, "end": 94}}]}}, "schema": []}
{"input": "Moreover, there is a possibility that patients with neuroacanthocytosis similar to McLeod syndrome exist without the XK gene abnormalities.", "output": {"entities": {"gene": [{"text": "XK gene", "start": 117, "end": 124}], "disease": [{"text": "abnormalities", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "This is the first biologic insight into the function of this new putative cancer susceptibility gene, providing clues of how perturbation of ELAC2 might promote tumorigenesis through irregular cell division.", "output": {"entities": {"gene": [{"text": "ELAC2", "start": 141, "end": 146}], "disease": [{"text": "tumorigenesis", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "To investigate the effect of resveratrol (RSV) on angiotensin II (Ang II) induced cardiomyocytes hypertrophy and FoxO1/MnSOD signaling pathway.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 50, "end": 64}], "disease": [{"text": "hypertrophy", "start": 97, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin II", "start": 50, "end": 64}, "tail": {"text": "hypertrophy", "start": 97, "end": 108}}]}}, "schema": []}
{"input": "FISH analysis of 5 cases revealed an intact EWS gene locus, supporting absence of the clear cell sarcoma 12; 22 translocation.", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "clear cell sarcoma", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of activated Src in drug resistance, we evaluated the effect of v-src on the resistance to various anti-cancer drugs using v-src-transfected HAG-1 human gallbladder adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "HAG-1", "start": 165, "end": 170}], "disease": [{"text": "cancer", "start": 128, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The TNF ligand-receptor system stimulates inflammation by activation of gene transcription through the IkappaB kinase (IKK)-NF-kappaB and c-Jun NH (2)-terminal kinase (JNK)-AP-1 signaling cascades.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 173, "end": 177}], "disease": [{"text": "inflammation", "start": 42, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Transactive response DNA-binding protein (TARDBP/TDP-43), a heterogeneous nuclear ribonucleoprotein (hnRNP) with diverse activities, is a common denominator in several neurodegenerative disorders, including amyotrophic lateral sclerosis and frontotemporal lobar degeneration.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 21, "end": 40}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 207, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "The GSDMB/ORMDL3 gene block, which includes rs7216389, rs4065275, rs4794820, and rs11650680, may be associated with asthma susceptibility in Korean children because it promotes eosinophilic inflammation, which induces bronchial hyperresponsiveness.", "output": {"entities": {"gene": [{"text": "GSDMB", "start": 4, "end": 9}], "disease": [{"text": "asthma susceptibility", "start": 116, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "This case demonstrates an episodic pattern of febrile illness-induced disease exacerbation with corresponding MRI changes.", "output": {"entities": {"gene": [{"text": "MRI", "start": 110, "end": 113}], "disease": [{"text": "febrile illness", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "While SAG is a bona fide anti-caries factor, DMBT1 was proposed as a candidate tumor-suppressor for brain, digestive tract, and lung cancer.", "output": {"entities": {"gene": [{"text": "SAG", "start": 6, "end": 9}], "disease": [{"text": "caries", "start": 30, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "To determine whether this gene, which is located close to the 12q13 breakpoint associated with myxoid liposarcoma, is rearranged in these tumors, we have performed Southern blot analysis of DNA from myxoid liposarcomas carrying the translocation t (12; 16) (q13; p11).", "output": {"entities": {"gene": [{"text": "p11", "start": 263, "end": 266}], "disease": [{"text": "myxoid liposarcoma", "start": 95, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "To run a phase II clinical trial of cytarabine in men with docetaxel-refractory, castration-resistant prostate cancer (CRPC), based on evidence that cytarabine might be effective in men with abnormalities of ERG oncogenes.", "output": {"entities": {"gene": [{"text": "ERG", "start": 208, "end": 211}], "disease": [{"text": "abnormalities", "start": 191, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "To ensure faithful chromosome segregation, cells use the spindle assembly checkpoint (SAC), which can be activated in aneuploid cancer cells.", "output": {"entities": {"gene": [{"text": "SAC", "start": 86, "end": 89}], "disease": [{"text": "aneuploid", "start": 118, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "There were no differences in gene expression of EP300, KAT2B, CREBBP, or HDACs 1, 2 and 3 in blood monocytes from subjects with asthma or inflammatory phenotypes of asthma.", "output": {"entities": {"gene": [{"text": "KAT2B", "start": 55, "end": 60}], "disease": [{"text": "asthma", "start": 128, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In carcinoembryonic antigen (CEA)-producing gastric cancer cells, the level of cell death observed when MDEG-G430F was used with a CEA promoter was similar to that observed when using a potent nonspecific promoter such as the cytomegalovirus promoter.", "output": {"entities": {"gene": [{"text": "CEA", "start": 29, "end": 32}], "disease": [{"text": "cytomegalovirus", "start": 226, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "[Hypertrophic cardiomyopathy induced by ACTH].", "output": {"entities": {"gene": [{"text": "ACTH", "start": 40, "end": 44}], "disease": [{"text": "Hypertrophic cardiomyopathy", "start": 1, "end": 28}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 40, "end": 44}, "tail": {"text": "Hypertrophic cardiomyopathy", "start": 1, "end": 28}}]}}, "schema": []}
{"input": "A case history is presented of a BRCA2 carrier who had a postmastectomy chest wall angiosarcoma but had neither therapeutic radiation nor clinically evident lymphedema.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 33, "end": 38}], "disease": [{"text": "lymphedema", "start": 157, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "STK36 screening can now be included for this rare and difficult to diagnose PCD subgroup.", "output": {"entities": {"gene": [{"text": "STK36", "start": 0, "end": 5}], "disease": [{"text": "PCD", "start": 76, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STK36", "start": 0, "end": 5}, "tail": {"text": "PCD", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "Here, we studied the role of the pluripotency and self-renewal stem cell genes NANOG, OCT4 and SOX2 in this polyploidy-dependent survival mechanism.", "output": {"entities": {"gene": [{"text": "OCT4", "start": 86, "end": 90}], "disease": [{"text": "polyploidy", "start": 108, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The nucleotide pair (np) 13708 mutation (G to A, ND5 gene) changed an alanine to a threonine and was found in 6/25 (24%) of non-11778 LHON pedigrees and in 5. 0% of controls, the np 15257 mutation (G to A, cytochrome b gene) changed an aspartate to an asparagine and was found in 4 of the 13708-positive pedigrees and 0. 3% of controls, the np 15812 mutation (G to A, cytochrome b gene) changed a valine to a methionine and was detected in two of the 15257-positive pedigrees and 0. 1% of controls and the np 5244 mutation (G to A, ND2 gene) changed a glycine to a serine and was found in one of the 15812-positive patients and none of 2103 controls.", "output": {"entities": {"gene": [{"text": "ND5", "start": 49, "end": 52}], "disease": [{"text": "LHON", "start": 134, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND5", "start": 49, "end": 52}, "tail": {"text": "LHON", "start": 134, "end": 138}}]}}, "schema": []}
{"input": "The E6AP ubiquitin ligase catalyzes the high-risk human papillomaviruses' E6-mediated ubiquitylation of p53, contributing to the neoplastic progression of cells infected by these viruses.", "output": {"entities": {"gene": [{"text": "E6AP", "start": 4, "end": 8}], "disease": [{"text": "neoplastic progression", "start": 129, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "To examine the potential functional significance of the P20L-Hsp20 human variant, adult rat cardiomyocytes were infected with Ad. GFP (where Ad is adenovirus and GFP is green fluorescent protein), Ad. WT-Hsp20 (where WT is wild-type), and Ad. P20L-Hsp20 and subjected to simulated ischemia/reperfusion injury.", "output": {"entities": {"gene": [{"text": "Hsp20", "start": 61, "end": 66}], "disease": [{"text": "ischemia", "start": 281, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "GAL cells display the phenotype and genotype of a B-cell lineage (positive for CD20, CD79a and clonal rearrangement of Ig heavy chain), carry the c-MYC rearrangement by t (8; 22) (q24; q11) translocation and are characterised by the expression of the germinal centre-associated antigens CD10, BCL6, CD38 and absent to low BCL2 expression.", "output": {"entities": {"gene": [{"text": "GAL", "start": 0, "end": 3}], "disease": [{"text": "translocation", "start": 190, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that cPLA2 plays an important role in supplying arachidonic acid to the COX-2 driven inflammatory pathway in ALS associated with SOD1 mutations.", "output": {"entities": {"gene": [{"text": "cPLA2", "start": 27, "end": 32}], "disease": [{"text": "ALS", "start": 131, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cPLA2", "start": 27, "end": 32}, "tail": {"text": "ALS", "start": 131, "end": 134}}]}}, "schema": []}
{"input": "Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 145, "end": 149}], "disease": [{"text": "Dominant optic atrophy", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 145, "end": 149}, "tail": {"text": "Dominant optic atrophy", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "Our data suggest that the CD133 (+) cell subpopulation evokes most of the lysophospholipid response within brain tumors through a combined regulation of S1P/LPA cell surface receptors signaling and by MT1-MMP.", "output": {"entities": {"gene": [{"text": "S1P", "start": 153, "end": 156}], "disease": [{"text": "brain tumors", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Notably, FVIII-RH exhibited a twofold increase in biological activity compared with FVIII-BDD, likely due to its slower dissociation of the A2-domain upon thrombin activation.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 9, "end": 14}], "disease": [{"text": "dissociation", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Intriguingly, EphA1 over-expression was more prevalent in stage II compared to stage III CRCs (P = 0. 02).", "output": {"entities": {"gene": [{"text": "EphA1", "start": 14, "end": 19}], "disease": [{"text": "CRC", "start": 89, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EphA1", "start": 14, "end": 19}, "tail": {"text": "CRC", "start": 89, "end": 92}}]}}, "schema": []}
{"input": "It was found by TUNEL assay that TSC-22-expressing TYS tumors were induced to undergo apoptosis by 5-FU treatment.", "output": {"entities": {"gene": [{"text": "TYS", "start": 51, "end": 54}], "disease": [{"text": "tumors", "start": 55, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that the severe form of prolidase deficiency is caused by multiple PEPD alleles.", "output": {"entities": {"gene": [{"text": "PEPD", "start": 88, "end": 92}], "disease": [{"text": "prolidase deficiency", "start": 45, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PEPD", "start": 88, "end": 92}, "tail": {"text": "prolidase deficiency", "start": 45, "end": 65}}]}}, "schema": []}
{"input": "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).", "output": {"entities": {"gene": [{"text": "PMM2", "start": 13, "end": 17}], "disease": [{"text": "CDG-Ia", "start": 77, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMM2", "start": 13, "end": 17}, "tail": {"text": "CDG-Ia", "start": 77, "end": 83}}]}}, "schema": []}
{"input": "In this study, we evaluated the therapeutic approach of targeting the cyclin-CDK-Retinoblastoma (Rb) pathway in a genetically engineered PDGF-B-driven brainstem glioma (BSG) mouse model.", "output": {"entities": {"gene": [{"text": "BSG", "start": 169, "end": 172}], "disease": [{"text": "brainstem glioma", "start": 151, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.", "output": {"entities": {"gene": [{"text": "keratin 17", "start": 30, "end": 40}], "disease": [{"text": "pachyonychia congenita type 2", "start": 68, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 17", "start": 30, "end": 40}, "tail": {"text": "pachyonychia congenita type 2", "start": 68, "end": 97}}]}}, "schema": []}
{"input": "Furthermore, in contrast to patients with typical DSN, patients with the EGR2 R359W mutation have more respiratory compromise and cranial nerve involvement.", "output": {"entities": {"gene": [{"text": "EGR2", "start": 73, "end": 77}], "disease": [{"text": "DSN", "start": 50, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EGR2", "start": 73, "end": 77}, "tail": {"text": "DSN", "start": 50, "end": 53}}]}}, "schema": []}
{"input": "Heterogeneous chromosomal aberrations generate 3' truncations of the NFKB2/lyt-10 gene in lymphoid malignancies.", "output": {"entities": {"gene": [{"text": "lyt-10", "start": 75, "end": 81}], "disease": [{"text": "chromosomal aberrations", "start": 14, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "IL-10, by inducing the receptor for LIF (LIFR), produced a functional autocrine OM loop in XG-1 and XG-2 cells and in primary myeloma cells from 2 patients.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 41, "end": 45}], "disease": [{"text": "myeloma", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Recently, molecular mechanisms underlying possible tumour suppressor genes (MEN1, CDC73/HRPT2, CDKIs, APC, SFRPs, GSK3β, RASSF1A, HIC1, RIZ1, WT1, CaSR, GNA11, AP2S1) and proto-oncogenes (CCND1/PRAD1, RET, ZFX, CTNNB1, EZH2) have been uncovered in the pathogenesis of hyperparathyroidism.", "output": {"entities": {"gene": [{"text": "HIC1", "start": 130, "end": 134}], "disease": [{"text": "hyperparathyroidism", "start": 268, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "Recombinant FVIIa has successfully prevented bleeding during or after surgery in patients with FXI inhibitors.", "output": {"entities": {"gene": [{"text": "FXI", "start": 95, "end": 98}], "disease": [{"text": "bleeding", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Key genes that may play a role in keloid formation and growth involve: suppressor gene p53., cyclin-depend-ent kinase inhibitor CDKN1A (p21) and BCL2 family genes: antiapoptotic BCL-2 and proapoptotic BAX.", "output": {"entities": {"gene": [{"text": "p21", "start": 136, "end": 139}], "disease": [{"text": "keloid formation", "start": 34, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The presence of autonomic neuropathy in subjects with parental type 2 diabetes was associated with higher UAER, fasting insulin level, and 24-h AMBP and a reduced diurnal blood pressure variation.", "output": {"entities": {"gene": [{"text": "AMBP", "start": 144, "end": 148}], "disease": [{"text": "autonomic neuropathy", "start": 16, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The patient harbored a novel sporadic mutation (V41L) in GJA1 (Cx43) as well as a heterozygous coding variant (R127H) of GJB2 (Cx26).", "output": {"entities": {"gene": [{"text": "Cx43", "start": 63, "end": 67}], "disease": [{"text": "sporadic", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In addition to accumulation of α-galactosidase A substrates, other mechanisms may be involved in FD pathophysiology, such as inflammation and oxidative stress.", "output": {"entities": {"gene": [{"text": "α-galactosidase A", "start": 31, "end": 48}], "disease": [{"text": "inflammation", "start": 125, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "BTNL2, a butyrophilin/B7-like molecule, is a negative costimulatory molecule modulated in intestinal inflammation.", "output": {"entities": {"gene": [{"text": "BTNL2", "start": 0, "end": 5}], "disease": [{"text": "inflammation", "start": 101, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "As a result, we identified one gene set with a joint effect significantly associated with schizophrenia and gene expression profiling analysis suggested that they were mainly neuro-and immune-related genes, such as glutamatergic gene (GRM5), GABAergic genes (GABRB1, GABARAP) and genes located in the MHC region (HLA-C, TAP2, HIST1H1B).", "output": {"entities": {"gene": [{"text": "GABARAP", "start": 267, "end": 274}], "disease": [{"text": "schizophrenia", "start": 90, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABARAP", "start": 267, "end": 274}, "tail": {"text": "schizophrenia", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "Additionally, the nuclear magnetic resonance relaxation properties of CVB4 2A (pro), particularly of residues G1 to S7, F64 to S67, and P107 to G111, reveal that the substrate region is exchanging in and out of a conformation in which it occupies the active site with association and dissociation rates in the range of 100 to 1, 000 s (-1).", "output": {"entities": {"gene": [{"text": "P107", "start": 136, "end": 140}], "disease": [{"text": "dissociation", "start": 284, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "Such a reduction in message suggests that the NQO2 gene may be involved in the development of clozapine-induced AGR.", "output": {"entities": {"gene": [{"text": "NQO2", "start": 46, "end": 50}], "disease": [{"text": "AGR", "start": 112, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NQO2", "start": 46, "end": 50}, "tail": {"text": "AGR", "start": 112, "end": 115}}]}}, "schema": []}
{"input": "CDC4 mutations occur in a subset of colorectal cancers but are not predicted to cause loss of function and are not associated with chromosomal instability.", "output": {"entities": {"gene": [{"text": "CDC4", "start": 0, "end": 4}], "disease": [{"text": "chromosomal instability", "start": 131, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "After appropriate affinity and format improvements, the best of our recombinant scFvs may form the basis for a sensitive p24 assay as a measure of viral load.", "output": {"entities": {"gene": [{"text": "p24", "start": 121, "end": 124}], "disease": [{"text": "viral load", "start": 147, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Asc-1 protein and SNAT2 mRNA were decreased in schizophrenia in both regions.", "output": {"entities": {"gene": [{"text": "SNAT2", "start": 18, "end": 23}], "disease": [{"text": "schizophrenia", "start": 47, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SNAT2", "start": 18, "end": 23}, "tail": {"text": "schizophrenia", "start": 47, "end": 60}}]}}, "schema": []}
{"input": "Taken together, we identified interesting novel candidate genes that likely contribute to glioma progression and provide first evidence for a role of epigenetic silencing of AMOG in malignant glioma cells.", "output": {"entities": {"gene": [{"text": "AMOG", "start": 174, "end": 178}], "disease": [{"text": "malignant glioma", "start": 182, "end": 198}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMOG", "start": 174, "end": 178}, "tail": {"text": "malignant glioma", "start": 182, "end": 198}}]}}, "schema": []}
{"input": "Increased TNFA * 2, but not TNFB * 1, allele frequency in Spanish atopic patients.", "output": {"entities": {"gene": [{"text": "TNFA", "start": 10, "end": 14}], "disease": [{"text": "atopic", "start": 66, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Rescue of glandular dysmorphogenesis in PTEN-deficient colorectal cancer epithelium by PPARγ-targeted therapy.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 87, "end": 92}], "disease": [{"text": "dysmorphogenesis", "start": 20, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "BRCA1-and BRCA2-deficient cells display genomic instability due to impaired DNA repair and may subsequently be predisposed to malignant transformation.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "genomic instability", "start": 40, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The locus typing of PLA1/PLA2 gene polymorphism was exclusively PLA1/PLA1 (TT) in healthy people, CHD patients and CHD patients with blood-stasis syndrome, while GPIIIa PLA1/PLA2 (TC) and PLA2/PLA2 (CC) were not found in all the selected objects.", "output": {"entities": {"gene": [{"text": "GPIIIa", "start": 162, "end": 168}], "disease": [{"text": "stasis syndrome", "start": 139, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Skewed X-inactivation patterns were found in two asymptomatic carriers of MeCP2 mutations and six girls diagnosed with either atypical or classical RTT.", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 74, "end": 79}], "disease": [{"text": "asymptomatic", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We applied this method to correlated SNPs in the cholinergic nicotinic receptor gene cluster CHRNA5-CHRNA3-CHRNB4, in a case-control study of cocaine dependence composed of 504 European-American and 583 African-American samples.", "output": {"entities": {"gene": [{"text": "CHRNB4", "start": 107, "end": 113}], "disease": [{"text": "cocaine dependence", "start": 142, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNB4", "start": 107, "end": 113}, "tail": {"text": "cocaine dependence", "start": 142, "end": 160}}]}}, "schema": []}
{"input": "ARHGAP21 is a RhoGAP for RhoA and RhoC with a role in proliferation and migration of prostate adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 34, "end": 38}], "disease": [{"text": "prostate adenocarcinoma", "start": 85, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The GES is a validated, quantitative blood-based diagnostic test measuring peripheral blood cell expression levels of 23 genes to determine the likelihood of obstructive CAD (at least 1 vessel with ≥ 50% angiographic coronary artery stenosis).", "output": {"entities": {"gene": [{"text": "GES", "start": 4, "end": 7}], "disease": [{"text": "coronary artery stenosis", "start": 217, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "LKB1 gene mutations appear to be frequent in male, smoking patients of Caucasian origin, in contrast to EGFR or HER2 mutations that are frequent in non-smoking, female patients of Asian origin.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 104, "end": 108}], "disease": [{"text": "smoking", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Among them CBFA2T2, a member of the \" ETO \" family, is known because of its homology and association with the product of RUNX1-CBFA2T1 gene fusion generated by t (8; 21) translocation, one frequent cause of acute myeloid leukemia.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 121, "end": 126}], "disease": [{"text": "translocation", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Here, we present a new AML1 translocation found in a patient with acute myeloid leukemia M4 with t (8; 21) (q24; q22) at the time of relapse.", "output": {"entities": {"gene": [{"text": "AML1", "start": 23, "end": 27}], "disease": [{"text": "translocation", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The nephritis was evidenced by presence of proteinuria, histologic examination with light microscopy, infiltrating leukocyte assessed by immunofluorescence microscopy, and mesangial cell proliferation assessed by proliferation scoring and by immunohistochemical staining of proliferating cell nuclear antigen (PCNA).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 310, "end": 314}], "disease": [{"text": "nephritis", "start": 4, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Hippocampal surface analysis showed the typical pattern of CA1 and subicular tissue atrophy in both ε4-carriers and non-carriers compared with controls (e4 carriers: p < 0. 0002; ε4 non-carriers: p < 0. 01, permutation test).", "output": {"entities": {"gene": [{"text": "CA1", "start": 59, "end": 62}], "disease": [{"text": "atrophy", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.", "output": {"entities": {"gene": [{"text": "COH1 gene", "start": 43, "end": 52}], "disease": [{"text": "myopia, progressive", "start": 158, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Then, the characters of glioma including proliferation, apoptosis, migration, and cell cycle were studied in U87 and U251 cell lines.", "output": {"entities": {"gene": [{"text": "U87", "start": 109, "end": 112}], "disease": [{"text": "glioma", "start": 24, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "In addition, after biopsy serum ALT values were monitored monthly for a mean follow-up period of 24. 8 months, after which patients were reevaluated for RIBA II and the presence of viremia.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 153, "end": 157}], "disease": [{"text": "viremia", "start": 181, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Targeting homeostatic mechanisms of endoplasmic reticulum stress to increase susceptibility of cancer cells to fenretinide-induced apoptosis: the role of stress proteins ERdj5 and ERp57.", "output": {"entities": {"gene": [{"text": "ERdj5", "start": 170, "end": 175}], "disease": [{"text": "cancer", "start": 95, "end": 101}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ERdj5", "start": 170, "end": 175}, "tail": {"text": "cancer", "start": 95, "end": 101}}]}}, "schema": []}
{"input": "Mistargeting of peroxisomal EHHADH disrupts mitochondrial metabolism and leads to renal Fanconi' s syndrome; this indicates a central role of mitochondria in proximal tubular function.", "output": {"entities": {"gene": [{"text": "EHHADH", "start": 28, "end": 34}], "disease": [{"text": "renal Fanconi' s syndrome", "start": 82, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EHHADH", "start": 28, "end": 34}, "tail": {"text": "renal Fanconi' s syndrome", "start": 82, "end": 107}}]}}, "schema": []}
{"input": "We show that the duplication can be detected by interphase FISH, using a PLP probe in five patients and their four asymptomatic carrier mothers.", "output": {"entities": {"gene": [{"text": "FISH", "start": 59, "end": 63}], "disease": [{"text": "asymptomatic", "start": 115, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "To evaluate roles of syndecan-1, bcl6 and p53 in diagnosis and prognostication of immunoproliferative small intestinal disease (IPSID) and to study profiles of kappa (kappa) and lambda (lambda) light chains and IgA heavy chain.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 215, "end": 226}], "disease": [{"text": "immunoproliferative small intestinal disease", "start": 82, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The FHIT/GAPDH mRNA level was less in squamous cell carcinoma (0. 144 +/-0. 246), a smoking-related cancer, than in adenocarcinoma (0. 72 +/-1. 321; P = 0. 0355).", "output": {"entities": {"gene": [{"text": "GAPDH", "start": 9, "end": 14}], "disease": [{"text": "smoking", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The Y1 receptor antagonist blocked the anxiolytic-like effect of neuropeptide Y, while the Y2 receptor antagonist was ineffective. We conclude that neuropeptide Y in the dorsocaudal lateral septum may act as an endogenous anxiolytic and antagonize corticotropin-releasing hormone (stress)-induced anxiety.", "output": {"entities": {"gene": [{"text": "corticotropin-releasing hormone", "start": 248, "end": 279}], "disease": [{"text": "anxiety", "start": 297, "end": 304}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "corticotropin-releasing hormone", "start": 248, "end": 279}, "tail": {"text": "anxiety", "start": 297, "end": 304}}]}}, "schema": []}
{"input": "The accompanying elevation in plasma parathyroid hormone (PTH) and reduction in bone mineral density caused by aldosterone (Aldo)-1% NaCl treatment (AldoST) led us to hypothesize that Ca2 + loading and altered redox state are due to secondary hyperparathyroidism (SHPT).", "output": {"entities": {"gene": [{"text": "PTH", "start": 58, "end": 61}], "disease": [{"text": "bone mineral density", "start": 80, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, MML-treated cells displayed autophagic features, such as the formation of autophagic vacuoles, a primary morphological feature of autophagy, and the accumulation of microtubule-associated protein 1 light chain 3 (LC3) puncta, another typical maker of autophagy, as determined by FITC-conjugated immunostaining and monodansylcadaverine (MDC) staining, respectively.", "output": {"entities": {"gene": [{"text": "LC3", "start": 226, "end": 229}], "disease": [{"text": "autophagic vacuoles", "start": 87, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "TFPI2, GPX3, GPX1, IGFBP6, IRF7 and DMRT1, showed promoter hypermethylation in one or more gastric cancer cell lines, but were unmethylated in normal gastric mucosa by bisulphite sequencing and methylation-specific PCR analysis.", "output": {"entities": {"gene": [{"text": "IRF7", "start": 27, "end": 31}], "disease": [{"text": "gastric cancer", "start": 91, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We investigated mRNA expressions of full-length HE4 and splice variants in lung adenocarcinoma, and the clinical impact of these genes was evaluated.", "output": {"entities": {"gene": [{"text": "HE4", "start": 48, "end": 51}], "disease": [{"text": "lung adenocarcinoma", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "There were no abnormalities in HIPK2, and analysis of two mutation hot-spots in BRAF revealed a V600E mutation in only one tumor without the duplication.", "output": {"entities": {"gene": [{"text": "HIPK2", "start": 31, "end": 36}], "disease": [{"text": "abnormalities", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Transient receptor potential melastatin subtype 8 (TRPM8) is a cold-sensing cation channel that can be activated by menthol, a compound with a naturally cold sensation in mint.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 51, "end": 56}], "disease": [{"text": "cold", "start": 63, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Stat5a nuclear expression was detected in ductal and lobular carcinomas and DCIS at a frequency of 48% (15/31), 33% (2/6), and 40% (2/5), respectively.", "output": {"entities": {"gene": [{"text": "Stat5a", "start": 0, "end": 6}], "disease": [{"text": "lobular carcinomas", "start": 53, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Stat5a", "start": 0, "end": 6}, "tail": {"text": "lobular carcinomas", "start": 53, "end": 71}}]}}, "schema": []}
{"input": "The results showed that on day 28 and day 42 after fracture, bone mineral content (BMC), bone mineral density (BMD), and ultimate load to failure of the calluses were significantly increased in the PTH-treated group compared with controls (day 28, 61, 46, and 32%; day 42, 119, 74, and 55%, respectively).", "output": {"entities": {"gene": [{"text": "PTH", "start": 198, "end": 201}], "disease": [{"text": "bone mineral density", "start": 89, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Stargardt disease (STGD) is the leading cause of juvenile macular degeneration associated with progressive central vision loss, photophobia, and colour vision abnormalities.", "output": {"entities": {"gene": [{"text": "Stargardt disease", "start": 0, "end": 17}], "disease": [{"text": "abnormalities", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Maspin expression correlated negatively with liver metastasis of CRA (p < 0. 05), positively with tenascin expression (p < 0. 05), but not with tumor size, depth of invasion, local invasion via vessels, lymph node metastasis, differentiation, expression of Ki-67 and p53 or MVD (p > 0. 05).", "output": {"entities": {"gene": [{"text": "CRA", "start": 65, "end": 68}], "disease": [{"text": "lymph node metastasis", "start": 203, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Stargardt-like macular dystrophy (STGD3, MIM 600110) and autosomal dominant macular dystrophy (adMD) are inherited forms of macular degeneration characterized by decreased visual acuity, macular atrophy and extensive fundus flecks.", "output": {"entities": {"gene": [{"text": "MIM", "start": 41, "end": 44}], "disease": [{"text": "macular degeneration", "start": 124, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "We sought to investigate the presence of the HHV 8 genome in skin lesions of LPP and early-stage sporadic, familial, and juvenile MF in patients in Israel.", "output": {"entities": {"gene": [{"text": "LPP", "start": 77, "end": 80}], "disease": [{"text": "skin lesions", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We report a young woman with a heteroplasmic m. 12276G > A mutation in tRNA (Leu (UCN)), who had childhood-onset and slowly progressive encephalopathy with ataxia, cognitive impairment, and hearing loss.", "output": {"entities": {"gene": [{"text": "UCN", "start": 82, "end": 85}], "disease": [{"text": "progressive encephalopathy", "start": 124, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.", "output": {"entities": {"gene": [{"text": "FKRP", "start": 17, "end": 21}], "disease": [{"text": "muscle-eye-brain disease", "start": 37, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FKRP", "start": 17, "end": 21}, "tail": {"text": "muscle-eye-brain disease", "start": 37, "end": 61}}]}}, "schema": []}
{"input": "Among cases, but not controls, average MLH1 expression tended to be higher with current alcohol consumption, regular aspirin use, and higher total intakes of calcium, vitamin D, and folate.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 39, "end": 43}], "disease": [{"text": "alcohol consumption", "start": 88, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We conclude that BCAT-2 deficiency in the mouse can cause a disease that mimics human MSUD.", "output": {"entities": {"gene": [{"text": "BCAT-2", "start": 17, "end": 23}], "disease": [{"text": "MSUD", "start": 86, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCAT-2", "start": 17, "end": 23}, "tail": {"text": "MSUD", "start": 86, "end": 90}}]}}, "schema": []}
{"input": "In vitro, TSP-1 N-terminal part significantly enhanced ECFC adhesion, whereas recombinant human TSP-1 had a negative effect on ECFC angiogenic potential.", "output": {"entities": {"gene": [{"text": "TSP-1", "start": 10, "end": 15}], "disease": [{"text": "adhesion", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Numerous missense mutations have been described previously in KCNA1 that cause EA1.", "output": {"entities": {"gene": [{"text": "KCNA1", "start": 62, "end": 67}], "disease": [{"text": "EA1", "start": 79, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNA1", "start": 62, "end": 67}, "tail": {"text": "EA1", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "Group comparisons demonstrated that (1) the probands with chronic schizophrenia, first episode schizophrenia, and schizophreniform disorder did not differ from one another on PVS; (2) these subjects combined had higher PVS ratings than the other two proband groups and normal subjects combined (who did not differ); and (3) none of the relative groups significantly differed from either one another or the normal subjects.", "output": {"entities": {"gene": [{"text": "PVS", "start": 175, "end": 178}], "disease": [{"text": "schizophreniform disorder", "start": 114, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "TSC-22-expressing TYS cells formed tumors in nude mice, but tumors formed by TSC-22-expressing TYS cells were significantly smaller than tumors formed by control cells (p < 0. 001, one way ANOVA).", "output": {"entities": {"gene": [{"text": "TYS", "start": 18, "end": 21}], "disease": [{"text": "tumors", "start": 35, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Here, we report the cloning and characterization of RTVP-1b, a novel splice variant of human RTVP-1, which was isolated from the U87 glioma cell line.", "output": {"entities": {"gene": [{"text": "U87", "start": 129, "end": 132}], "disease": [{"text": "glioma", "start": 133, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.", "output": {"entities": {"gene": [{"text": "RING-B-box-Coiled-coil protein", "start": 20, "end": 50}], "disease": [{"text": "mulibrey nanism", "start": 65, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RING-B-box-Coiled-coil protein", "start": 20, "end": 50}, "tail": {"text": "mulibrey nanism", "start": 65, "end": 80}}]}}, "schema": []}
{"input": "The deleted are encompassed the p27KIP1 gene locus in 10 cases, but inactivation of the remaining allele by deletion, translocation, or mutation was never observed.", "output": {"entities": {"gene": [{"text": "p27KIP1", "start": 32, "end": 39}], "disease": [{"text": "translocation", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "FIGO stage (P = 0. 014), residual disease (P = 0. 042), histological grade (P = 0. 028), Ang-1/Ang-2 gene expression ratio (P = 0. 010), and combination of Ang-1/Ang-2 gene expression ratio and VEGF gene expression (P = 0. 019), were found to be significantly associated with a poor prognosis in univariate Cox regression analysis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 194, "end": 198}], "disease": [{"text": "residual disease", "start": 25, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "To explore a possible relationship between this phenotype and BRCA1 mutations, we first compared 32 BRCA1-BCs and 200 consecutive cases of breast cancer without familial history for the prevalence of typical medullary breast carcinoma (TMC) using the criteria given by Ridolfi et al.", "output": {"entities": {"gene": [{"text": "TMC", "start": 236, "end": 239}], "disease": [{"text": "breast cancer", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Manipulation of Hopx function in murine models is associated with cardiac hypertrophy, dilation and fibrosis.", "output": {"entities": {"gene": [{"text": "Hopx", "start": 16, "end": 20}], "disease": [{"text": "dilation", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In South Asia, as the transmission of VL is anthroponotic, PKDL patients are the proposed disease reservoir, thus assuming epidemiological significance, its eradication being linked to the control of leishmaniasis.", "output": {"entities": {"gene": [{"text": "PKDL", "start": 59, "end": 63}], "disease": [{"text": "leishmaniasis", "start": 200, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "These findings with ADCY8 and ST3GAL1 warrant further investigation in order to confirm the observed associations and their functional significance for BP susceptibility.", "output": {"entities": {"gene": [{"text": "ST3GAL1", "start": 30, "end": 37}], "disease": [{"text": "BP", "start": 152, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ST3GAL1", "start": 30, "end": 37}, "tail": {"text": "BP", "start": 152, "end": 154}}]}}, "schema": []}
{"input": "Patients with deregulated HMGA2 mRNA expression were significantly more likely to show splenomegaly, high serum lactate dehydrogenase values, and methylation of the CDKN2A promoter compared with other patients without deregulation of HMGA2.", "output": {"entities": {"gene": [{"text": "CDKN2A", "start": 165, "end": 171}], "disease": [{"text": "splenomegaly", "start": 87, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that B-FABP expression in malignant glioma lines is determined by the extent of NFI phosphorylation which, in turn, is controlled by a phosphatase activity specific to B-FABP (+) lines.", "output": {"entities": {"gene": [{"text": "NFI", "start": 100, "end": 103}], "disease": [{"text": "malignant glioma", "start": 46, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We specifically demonstrate that loss of CTCF at a domain boundary permits a constitutive enhancer to interact aberrantly with the receptor tyrosine kinase gene PDGFRA, a prominent glioma oncogene.", "output": {"entities": {"gene": [{"text": "CTCF", "start": 41, "end": 45}], "disease": [{"text": "glioma", "start": 181, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Thus, our data uncovered CCN5 as a novel transcriptional repressor that plays an important role in regulating tumor progression functioning, at least in part, by inhibiting the expression of genes involved in the TGF-β signaling cascade that is known to promote EMT.", "output": {"entities": {"gene": [{"text": "EMT", "start": 262, "end": 265}], "disease": [{"text": "tumor progression", "start": 110, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Next, we tested the in vitro effect of hypoxia and vascular endothelial growth factor (VEGF) on the expression of CXCR4 in glioma cell lines and in human brain microvascular endothelial cells (HBMECs).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 87, "end": 91}], "disease": [{"text": "hypoxia", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "ERBB2-induced inflammation in lung carcinogenesis.", "output": {"entities": {"gene": [{"text": "ERBB2", "start": 0, "end": 5}], "disease": [{"text": "inflammation", "start": 14, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Conclusively, the establishment of MO-LAS, a novel angiosarcoma cell line bearing lymphatic characters, strongly suggests the entity of lymphangiosarcoma.", "output": {"entities": {"gene": [{"text": "LAS", "start": 38, "end": 41}], "disease": [{"text": "angiosarcoma", "start": 51, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "This further highlights the importance of EPLIN in regulating prostate cancer cell growth and aggressiveness, and suggests a possible connection between EPLIN and paxillin.", "output": {"entities": {"gene": [{"text": "EPLIN", "start": 42, "end": 47}], "disease": [{"text": "aggressiveness", "start": 94, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 110, "end": 128}], "disease": [{"text": "familial chylomicronemia", "start": 136, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 110, "end": 128}, "tail": {"text": "familial chylomicronemia", "start": 136, "end": 160}}]}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "C5orf30", "start": 21, "end": 28}], "disease": [{"text": "ovarian cancer", "start": 182, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C5orf30", "start": 21, "end": 28}, "tail": {"text": "ovarian cancer", "start": 182, "end": 196}}]}}, "schema": []}
{"input": "We have analyzed the effect of solute carrier family 2 (facilitated glucose transporter), member 1 polymorphisms on 2-[fluorine-18]-fluoro-2-deoxy-D-glucose-uptake with a combination of polymorphisms of hypoxia-inducible factor 1 alpha, apurinic/apyimidinic endonuclease, and vascular endothelial growth factor A in a hypoxia-related pathway.", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor A", "start": 276, "end": 312}], "disease": [{"text": "hypoxia", "start": 203, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "PTI-1 may be a member of oncogenes that could affect protein translation and contribute to carcinoma development in human prostate.", "output": {"entities": {"gene": [{"text": "PTI", "start": 0, "end": 3}], "disease": [{"text": "carcinoma", "start": 91, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "OTX015 displayed higher antiproliferative effects compared to its analog JQ1, with GI50 values of approximately 0. 2 & #181; M. In addition, C-MYC and CDKN1A mRNA levels increased transiently after 4 h-exposure to OTX015, while BRD2, SESN3, HEXIM-1, HIST2H2BE, and HIST1H2BK were rapidly upregulated and sustained after 24 h. Studies in three additional GBM cell lines supported the antiproliferative effects of OTX015.", "output": {"entities": {"gene": [{"text": "BRD2", "start": 228, "end": 232}], "disease": [{"text": "GBM", "start": 354, "end": 357}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRD2", "start": 228, "end": 232}, "tail": {"text": "GBM", "start": 354, "end": 357}}]}}, "schema": []}
{"input": "Beside MLL translocations, fluorescence in situ hybridization analysis demonstrated monosomy or trisomy of MLL in 8-10% of the quercetin-exposed CD34 (+) cells.", "output": {"entities": {"gene": [{"text": "CD34", "start": 145, "end": 149}], "disease": [{"text": "trisomy", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Twelve of 27 UUT tumors were MMR-deficient and showed microsatellite instability.", "output": {"entities": {"gene": [{"text": "MMR", "start": 29, "end": 32}], "disease": [{"text": "microsatellite instability", "start": 54, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Our results show that expression of a chimeric transcription factor encoded by the tumor related chromosomal translocation (8; 21) involving the AML1 and ETO loci is sufficient to cause reorganization of PML domains.", "output": {"entities": {"gene": [{"text": "AML1", "start": 145, "end": 149}], "disease": [{"text": "chromosomal translocation", "start": 97, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 94, "end": 115}], "disease": [{"text": "Fabry disease", "start": 44, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 94, "end": 115}, "tail": {"text": "Fabry disease", "start": 44, "end": 57}}]}}, "schema": []}
{"input": "Known causes of coronal synostosis include haploinsufficiency of TWIST1 and a gain of function mutation in MSX2.", "output": {"entities": {"gene": [{"text": "MSX2", "start": 107, "end": 111}], "disease": [{"text": "coronal synostosis", "start": 16, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Here we show that vascular endothelial growth factor (VEGF; also known as vascular permeability factor) probably functions as a hypoxia-inducible angiogenic factor.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 54, "end": 58}], "disease": [{"text": "hypoxia", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "At 1. 3 to 1. 7 percent residual moisture of fibrinogen, the infectivity of B19 was reduced dramatically by 3. 3 to 5. 1 log for 1 and 2 hours of dry-heat treatment, respectively.", "output": {"entities": {"gene": [{"text": "B19", "start": 76, "end": 79}], "disease": [{"text": "fibrinogen", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The resulting VHL gene silencing leads to induction of hypoxia-regulated genes including vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 125, "end": 129}], "disease": [{"text": "hypoxia", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "After adjustment for drinking and smoking, the analysis showed significantly increased cancer risk for alcoholics with either ADH2 * 1/2 * I (OR = 2. 03) or ALDH2 * 1/2 * 2 (OR = 12. 76).", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 157, "end": 162}], "disease": [{"text": "smoking", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "However, fluorescence in situ hybridization studies revealed the involvement of chromosome 21 in the translocation and presence of the AML1-ETO chimeric gene.", "output": {"entities": {"gene": [{"text": "AML1", "start": 135, "end": 139}], "disease": [{"text": "translocation", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of TL1A and DR3 in the functioning of macrophage/foam cells in relation to atherogenesis, we have analyzed cellular events mediated by TL1A and DR3 in a human macrophage-like cell line, THP-1.", "output": {"entities": {"gene": [{"text": "TL1A", "start": 27, "end": 31}], "disease": [{"text": "foam cells", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes.", "output": {"entities": {"gene": [{"text": "K2e", "start": 230, "end": 233}], "disease": [{"text": "IBS", "start": 62, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K2e", "start": 230, "end": 233}, "tail": {"text": "IBS", "start": 62, "end": 65}}]}}, "schema": []}
{"input": "siRNA-induced inhibition of neovascularization required a minimum length of 21 nucleotides, a bridging necessity in a modelled 2: 1 TLR3-RNA complex.", "output": {"entities": {"gene": [{"text": "TLR3", "start": 132, "end": 136}], "disease": [{"text": "neovascularization", "start": 28, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "With the exception of the Gly16Arg polymorphism in the ADRB2 gene in men (P = 0. 04) and women (P = 0. 05), and the Lys109Arg polymorphism in the LEPR gene in women, no statistically significant differences in the genotype and allele frequencies were observed between weight gainers and non-weight gainers.", "output": {"entities": {"gene": [{"text": "LEPR gene", "start": 146, "end": 155}], "disease": [{"text": "weight", "start": 268, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "Of particular interest, one boy had a 240 kb deletion in Xq28 encompassing CXorf6 (formerly F18), MTM1 and MTMR1 but was not accompanied by hypogenitalism.", "output": {"entities": {"gene": [{"text": "MTMR1", "start": 107, "end": 112}], "disease": [{"text": "hypogenitalism", "start": 140, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The frequency of EGFR mutations was significantly higher in well to moderately differentiated adenocarcinomas from non-smoking female patients.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 17, "end": 21}], "disease": [{"text": "smoking", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Two examples include the antimetastatic, tumor suppressor genes, desmocollin 3 (DSC3) and MASPIN, which are frequently silenced in this manner in human breast cancer.", "output": {"entities": {"gene": [{"text": "MASPIN", "start": 90, "end": 96}], "disease": [{"text": "breast cancer", "start": 152, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MASPIN", "start": 90, "end": 96}, "tail": {"text": "breast cancer", "start": 152, "end": 165}}]}}, "schema": []}
{"input": "The pathogenesis of primary carcinoma of the fallopian tube (PCFT) is poorly understood.", "output": {"entities": {"gene": [{"text": "PCFT", "start": 61, "end": 65}], "disease": [{"text": "primary carcinoma", "start": 20, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "All patients and 200 asymptomatic control subjects were genotyped for TLR-4 substitutions using polymerase chain reaction-restriction fragment length polymorphism.", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 70, "end": 75}], "disease": [{"text": "asymptomatic", "start": 21, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Four genomic disorders map within the interval 17p11-p12: Charcot-Marie-Tooth disease type 1A, hereditary neuropathy with liability to pressure palsies, Smith-Magenis syndrome, and dup (17) (p11. 2p11. 2) syndrome.", "output": {"entities": {"gene": [{"text": "p11", "start": 49, "end": 52}], "disease": [{"text": "neuropathy", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "These findings correlated with a high LT viral load, strong p24 expression, and an effacement of LT immunoarchitecture with a low number of CD4 + cells.", "output": {"entities": {"gene": [{"text": "p24", "start": 60, "end": 63}], "disease": [{"text": "viral load", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "SelN-devoid myotubes showed also Ca (2 +) homeostasis abnormalities suggesting dysfunction of the redox-sensor Ca (2 +) channel ryanodine receptor type 1.", "output": {"entities": {"gene": [{"text": "SelN", "start": 0, "end": 4}], "disease": [{"text": "abnormalities", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We induced HLJ1 overexpression or knockdown in human lung adenocarcinoma CL1-5 cells and analyzed cell proliferation, anchorage-independent growth, in vivo tumorigenesis, cell motility, invasion, and cell cycle progression.", "output": {"entities": {"gene": [{"text": "CL1", "start": 73, "end": 76}], "disease": [{"text": "lung adenocarcinoma", "start": 53, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "These results may provide a mechanism for PTTG-induced tumorigenesis whereby PTTG mediates aneuploidy and subsequent cell transformation.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 42, "end": 46}], "disease": [{"text": "aneuploidy", "start": 91, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.", "output": {"entities": {"gene": [{"text": "SNORA54", "start": 208, "end": 215}], "disease": [{"text": "alcohol dependence", "start": 240, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SNORA54", "start": 208, "end": 215}, "tail": {"text": "alcohol dependence", "start": 240, "end": 258}}]}}, "schema": []}
{"input": "Several studies have demonstrated that IL-17F plays a pivotal role in allergic airway inflammation and induces several asthma-related molecules such as CCL20.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 39, "end": 45}], "disease": [{"text": "inflammation", "start": 86, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "After anesthesia, modified Schirmer tests were performed on IRP rats and Sprague Dawley (SD) rats to measure tear function.", "output": {"entities": {"gene": [{"text": "IRP", "start": 60, "end": 63}], "disease": [{"text": "anesthesia", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Apolipoprotein E (apoE) was decreased in lipoprotein fractions in NS, but not in analbuminemia.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 0, "end": 16}], "disease": [{"text": "analbuminemia", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "1337 African-Americans and 1645 Whites from the CARDIA study were genotyped for 22 and 15 EPHX2 single nucleotide polymorphisms (SNPs), respectively, to examine the associations of common EPHX2 haplotypes and genotypes with presence of coronary artery calcified plaque (CAC).", "output": {"entities": {"gene": [{"text": "CAC", "start": 270, "end": 273}], "disease": [{"text": "plaque", "start": 262, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Over-expression of miR-22 inhibits HIF-1α expression, repressing vascular endothelial growth factor (VEGF) production during hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 101, "end": 105}], "disease": [{"text": "hypoxia", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "These data show that CD25 deficiency results in an IPEX-like syndrome and suggests that although Foxp3 is not required for normal IL-10 expression by human CD4 lymphocytes, CD25 expression is important.", "output": {"entities": {"gene": [{"text": "CD25", "start": 21, "end": 25}], "disease": [{"text": "CD25 deficiency", "start": 21, "end": 36}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD25", "start": 21, "end": 25}, "tail": {"text": "CD25 deficiency", "start": 21, "end": 36}}]}}, "schema": []}
{"input": "Role of LKB1 as a major actor of the AMPK/mTOR pathway connecting cellular metabolism, cell growth and tumorigenesis has been extensively studied probably to the detriment of other functions of equal importance.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 8, "end": 12}], "disease": [{"text": "tumorigenesis", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "SCF (JFK) is a bona fide E3 ligase for ING4 and a potent promoter of the angiogenesis and metastasis of breast cancer.", "output": {"entities": {"gene": [{"text": "JFK", "start": 5, "end": 8}], "disease": [{"text": "metastasis", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "There were no significant differences in mRNA and protein levels of MARCKS between suicide subjects and controls.", "output": {"entities": {"gene": [{"text": "MARCKS", "start": 68, "end": 74}], "disease": [{"text": "suicide", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We observed a significant increase in the number subjects carrying the NAT1 * 10 allele of the N-acetyl transferasel (NAT1) gene in controls with a MAST-R score of & gt; or = 4 and in subjects with drug and/or alcohol dependence (p = 0. 003), compared with controls with a MAST-R & lt; 4.", "output": {"entities": {"gene": [{"text": "MAST", "start": 148, "end": 152}], "disease": [{"text": "alcohol dependence", "start": 210, "end": 228}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAST", "start": 148, "end": 152}, "tail": {"text": "alcohol dependence", "start": 210, "end": 228}}]}}, "schema": []}
{"input": "The unexpected opposing cell biological effects of EGFR-RasGRP1 and EGFR-SOS1 signals in the same cell shed light on the intricacy of EGFR-Ras signalling in normal epithelium and carcinoma.", "output": {"entities": {"gene": [{"text": "RasGRP1", "start": 56, "end": 63}], "disease": [{"text": "carcinoma", "start": 179, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "The higher interaction between GR and HSP70 and the disturbances in the relations among heat shock response parameters and GR as observed in our BD patients may provide novel insights into the contribution of these factors in BD aetiopathogenesis.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 38, "end": 43}], "disease": [{"text": "BD", "start": 145, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSP70", "start": 38, "end": 43}, "tail": {"text": "BD", "start": 145, "end": 147}}]}}, "schema": []}
{"input": "Relative frequencies of fresh CD4 + and CD8 + T cells that bound annexin V, an early indicator of programmed cell death, or propidium iodide, an indicator of cell necrosis, were greater in XCIDL--> Q271 T cells than in normal fresh T cells.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 65, "end": 74}], "disease": [{"text": "necrosis", "start": 163, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "However, expression of TIM-1 and-3 is not restricted solely to T cells and the presence of TIM-3 in resident CNS cells may indicate a role for this molecule in the interaction between the nervous and immune systems.", "output": {"entities": {"gene": [{"text": "TIM-1", "start": 23, "end": 28}], "disease": [{"text": "nervous", "start": 188, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "GKT137831 attenuated hypoxia-induced H (2) O (2) release, proliferation, and TGF-β1 expression and blunted reductions in PPARγ in HPAECs and HPASMCs in vitro.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 121, "end": 126}], "disease": [{"text": "hypoxia", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "These findings point to EIF2AK4 as the major gene that is linked to PVOD development and contribute toward an understanding of the complex genetic architecture of pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "EIF2AK4", "start": 24, "end": 31}], "disease": [{"text": "pulmonary hypertension", "start": 163, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EIF2AK4", "start": 24, "end": 31}, "tail": {"text": "pulmonary hypertension", "start": 163, "end": 185}}]}}, "schema": []}
{"input": "These findings support a suppressor role for TSSC3 in osteosarcoma development by regulating apoptosis.", "output": {"entities": {"gene": [{"text": "TSSC3", "start": 45, "end": 50}], "disease": [{"text": "osteosarcoma", "start": 54, "end": 66}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TSSC3", "start": 45, "end": 50}, "tail": {"text": "osteosarcoma", "start": 54, "end": 66}}]}}, "schema": []}
{"input": "Activation of this HO-1-MnSOD axis may play an important role in the pathogenesis of Alzheimer disease, Parkinson disease and other free radical-related neurodegenerative disorders.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 19, "end": 23}], "disease": [{"text": "neurodegenerative disorders", "start": 153, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HO-1", "start": 19, "end": 23}, "tail": {"text": "neurodegenerative disorders", "start": 153, "end": 180}}]}}, "schema": []}
{"input": "Riluzole' s therapeutic potential for treating mood disorders may involve GLT-1 and BDNF, and we suggest this protocol could be used to further characterize its precise long-term biochemical mechanisms of action in animal models of depression.", "output": {"entities": {"gene": [{"text": "GLT-1", "start": 74, "end": 79}], "disease": [{"text": "depression", "start": 232, "end": 242}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLT-1", "start": 74, "end": 79}, "tail": {"text": "depression", "start": 232, "end": 242}}]}}, "schema": []}
{"input": "Our results showed that reintroduction of the MMAC/PTEN gene into human glioma U251 and U87 cells modified their phenotype and growth characteristics.", "output": {"entities": {"gene": [{"text": "U87", "start": 88, "end": 91}], "disease": [{"text": "glioma", "start": 72, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We used morpholino antisense oligomers to downregulate human MK expression in human prostate (PC-3) and colon carcinoma (SW620) cells, and determined the practical advantages of this anticancer therapeutic.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 94, "end": 98}], "disease": [{"text": "colon carcinoma", "start": 104, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of REST did not affect EWS-FLI-1, but significantly suppressed tumor growth in vivo, reduced the tumor vessel pericyte markers α-smooth muscle actin (SMA) and desmin, increased hypoxia and apoptosis in tumor tissues, and decreased the expression of delta-like ligand 4 (DLL4) and Hes1.", "output": {"entities": {"gene": [{"text": "Hes1", "start": 291, "end": 295}], "disease": [{"text": "hypoxia", "start": 188, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "We found that the diabetic mice receiving NGF gene transfer via either AAV2 or AAV9 were spared the progressive deterioration of cardiac function and left ventricular chamber dilatation observed in β-Gal-injected diabetic mice.", "output": {"entities": {"gene": [{"text": "NGF gene", "start": 42, "end": 50}], "disease": [{"text": "dilatation", "start": 175, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the chromosomal translocation t (11; 14) leads to an abnormal protein expression of cyclin D1 in the tumor cells of MCL and induces a consecutive downregulation of cyclin D3.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 181, "end": 190}], "disease": [{"text": "chromosomal translocation", "start": 21, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The down-regulation of the neuropilin-1 transcripts by short interfering RNA caused spontaneous synoviocyte apoptosis, which was associated with both the decrease in Bcl-2 expression and the increase in Bax translocation to mitochondria.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 166, "end": 171}], "disease": [{"text": "translocation", "start": 207, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Protein modeling predicts destabilization of the GS domain, consistent with constitutive activation of ACVR1 as the underlying cause of the ectopic chondrogenesis, osteogenesis and joint fusions seen in FOP.", "output": {"entities": {"gene": [{"text": "ACVR1", "start": 103, "end": 108}], "disease": [{"text": "FOP", "start": 203, "end": 206}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACVR1", "start": 103, "end": 108}, "tail": {"text": "FOP", "start": 203, "end": 206}}]}}, "schema": []}
{"input": "To investigate the alteration of plasma and lung tissue homogenate urotensin II (U-II), nitric oxide (NO) and C-type natriuretic peptide (CNP) levels in rats with hypoxia-induced pulmonary hypertension (HPH) and to study the role of these factors and oxygen treatment in the development of HPH.", "output": {"entities": {"gene": [{"text": "CNP", "start": 138, "end": 141}], "disease": [{"text": "pulmonary hypertension", "start": 179, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Our results provide evidence that Rsf-1 expression is primarily confined to high-grade serous carcinoma, the most aggressive ovarian cancer.", "output": {"entities": {"gene": [{"text": "Rsf-1", "start": 34, "end": 39}], "disease": [{"text": "serous carcinoma", "start": 87, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The t (12; 21) translocation resulting in TEL/AML1 gene fusion is present in approximately 25% of patients with precursor B-lineage pediatric acute lymphoblastic leukemia (ALL).", "output": {"entities": {"gene": [{"text": "AML1", "start": 46, "end": 50}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data suggest that CLU may regulate EMT and aggressive behaviour of human lung adenocarcinoma cells through modulating ERK signalling and Slug expression.", "output": {"entities": {"gene": [{"text": "CLU", "start": 38, "end": 41}], "disease": [{"text": "aggressive behaviour", "start": 63, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Depression and fatigue during chronic IFN-& #945; administration were associated with alterations in the expression (OAS2) and transcriptional control (CREB/ATF) of genes linked to behavioral disorders including CFS and major depression, further supporting an immune contribution to these diseases.", "output": {"entities": {"gene": [{"text": "OAS2", "start": 117, "end": 121}], "disease": [{"text": "Depression", "start": 0, "end": 10}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OAS2", "start": 117, "end": 121}, "tail": {"text": "Depression", "start": 0, "end": 10}}]}}, "schema": []}
{"input": "We examined 42 adult patients with B-cell lineage ALL and 13 adult patients with lymphoblastic transformation of chronic myeloid leukemia (CML) to detect TEL/AML1 fusion genes using the reverse transcriptase-polymerase chain reaction (RT-PCR) and Southern blotting, but no translocation was detected.", "output": {"entities": {"gene": [{"text": "AML1", "start": 158, "end": 162}], "disease": [{"text": "translocation", "start": 273, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "Detection of germline DICER1 gene mutations in familial MNG with and without SLCT.", "output": {"entities": {"gene": [{"text": "DICER1", "start": 22, "end": 28}], "disease": [{"text": "SLCT", "start": 77, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DICER1", "start": 22, "end": 28}, "tail": {"text": "SLCT", "start": 77, "end": 81}}]}}, "schema": []}
{"input": "dementia risk conferred by apolipoprotein-E (APOE) and angiotensin-1-converting enzyme (ACE) polymorphisms have been reported for the MRC Cognitive Function and Ageing Study (CFAS) at 6-year follow-up.", "output": {"entities": {"gene": [{"text": "MRC", "start": 134, "end": 137}], "disease": [{"text": "dementia", "start": 0, "end": 8}]}, "relations": {}}, "schema": []}
{"input": "Disruption of these protein products is responsible for cognitive dysfunction, electroretinogram (ERG) abnormalities and behavioural disorders in Duchenne muscular dystrophy (DMD).", "output": {"entities": {"gene": [{"text": "ERG", "start": 98, "end": 101}], "disease": [{"text": "cognitive dysfunction", "start": 56, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate that HMGB1 binds to Gadd45a and may be involved in DNA demethylation in CD4 (+) T cells during lupus flare.", "output": {"entities": {"gene": [{"text": "CD4", "start": 93, "end": 96}], "disease": [{"text": "lupus flare", "start": 116, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "To test this hypothesis, metallothionein promoter-driven, human growth hormone-releasing hormone (MT-hGHRH) transgenic mice, that exhibit somatotrope hyperplasia before 9 months of age and subsequent adenoma formation with 30-40% penetrance, were crossbred with p27 +/-mice for two successive generations to produce p27 +/+, p27 +/-and p27-/-mice that expressed the hGHRH transgene.", "output": {"entities": {"gene": [{"text": "p27", "start": 262, "end": 265}], "disease": [{"text": "hyperplasia", "start": 150, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In a syngeneic aortic transplantation model in which wild-type or AIP1-knockout mouse aortas were transplanted into IFN-γR-deficient recipients and in which neointima formation was induced by intravenous administration of an adenovirus that encoded a mouse IFN-γ transgene, donor grafts from AIP1-knockout mice enhanced IFN-γ-induced VSMC proliferation and neointima formation.", "output": {"entities": {"gene": [{"text": "AIP1", "start": 66, "end": 70}], "disease": [{"text": "adenovirus", "start": 225, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "IGF-I and IGF-II resistance was present in DLB but not PD frontal cortex, and associated with reduced expression of Hu, nerve growth factor, and Trk neurotrophin receptors, and increased levels of glial fibrillary acidic protein, alpha-synuclein, dopamine-beta-hydroxylase, 4-hydroxy-2-nonenal (HNE), and ubiquitin immunoreactivity.", "output": {"entities": {"gene": [{"text": "glial fibrillary acidic protein", "start": 197, "end": 228}], "disease": [{"text": "PD", "start": 55, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glial fibrillary acidic protein", "start": 197, "end": 228}, "tail": {"text": "PD", "start": 55, "end": 57}}]}}, "schema": []}
{"input": "In this direction, a systematic revision of these data should shed more light on the role of this polymorphism in chronic liver diseases and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 141, "end": 144}], "disease": [{"text": "liver diseases", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the etiological role of the STK11 gene in sporadic gastric carcinoma tumorigenesis, we analyzed 28 gastric carcinomas (22 of intestinal type and 6 of diffuse type) for STK11 gene mutations.", "output": {"entities": {"gene": [{"text": "STK11 gene", "start": 41, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.", "output": {"entities": {"gene": [{"text": "LHX3", "start": 22, "end": 26}], "disease": [{"text": "pituitary hormone deficiency", "start": 41, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We present a case of TNHP caused by & lt; i & gt; TRPV6 & lt;/i & gt; gene mutations.", "output": {"entities": {"gene": [{"text": "TRPV6", "start": 50, "end": 55}], "disease": [{"text": "TNHP", "start": 21, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPV6", "start": 50, "end": 55}, "tail": {"text": "TNHP", "start": 21, "end": 25}}]}}, "schema": []}
{"input": "These findings demonstrate that JNK1 translocates to the nucleus during ischemia without activation and is then activated during reperfusion, probably by SEK1 in the nucleus.", "output": {"entities": {"gene": [{"text": "SEK1", "start": 154, "end": 158}], "disease": [{"text": "ischemia", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that patients with MNGIE who have normal thymidine levels should be tested for RRM2B mutations.", "output": {"entities": {"gene": [{"text": "RRM2B", "start": 100, "end": 105}], "disease": [{"text": "MNGIE", "start": 40, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RRM2B", "start": 100, "end": 105}, "tail": {"text": "MNGIE", "start": 40, "end": 45}}]}}, "schema": []}
{"input": "Consistently, the expression of PICK1 correlated with histological grade, lymph node metastasis, Her-2/neu-positivity, and triple-negative basal-like breast cancer.", "output": {"entities": {"gene": [{"text": "PICK1", "start": 32, "end": 37}], "disease": [{"text": "lymph node metastasis", "start": 74, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "METHODS: Six EGF family peptides and a truncated EGF receptor splice variant (p110/EGFR) were examined using immunohistochemistry in the trophoblast of placentas (N = 76) from women with preeclampsia, and compared to placentas from women of similar gestational age (GA) with preterm labor (PTL) or small for gestational age (SGA) fetuses, as well as normal term placentas.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 83, "end": 87}], "disease": [{"text": "small for gestational age", "start": 298, "end": 323}]}, "relations": {}}, "schema": []}
{"input": "The epithelial-to-mesenchymal transition (EMT) is the most critical mechanism implicated in tumor progression that is controlled by the inflammatory microenvironment.", "output": {"entities": {"gene": [{"text": "EMT", "start": 42, "end": 45}], "disease": [{"text": "tumor progression", "start": 92, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of dysregulated Ras/Raf/ERK signaling may be useful in reversing vascular remodeling in PAH.", "output": {"entities": {"gene": [{"text": "ERK", "start": 35, "end": 38}], "disease": [{"text": "vascular remodeling", "start": 76, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Notably, NRF2-inhibited cancer cells failed to accumulate HIF-1α protein under hypoxic conditions, limiting expression of VEGF and other HIF-1α target genes.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 122, "end": 126}], "disease": [{"text": "hypoxic", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Androgen induces expression of the multidrug resistance protein gene MRP4 in prostate cancer cells.", "output": {"entities": {"gene": [{"text": "MRP4", "start": 69, "end": 73}], "disease": [{"text": "prostate cancer", "start": 77, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MRP4", "start": 69, "end": 73}, "tail": {"text": "prostate cancer", "start": 77, "end": 92}}]}}, "schema": []}
{"input": "Severe hypoxia (0. 2% O2), but not moderate hypoxia (5% O2) raised VEGF mRNA expression and protein secretion in 7/9 and 5/9 cell lines, respectively.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 67, "end": 71}], "disease": [{"text": "hypoxia", "start": 7, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Placenta samples (n = 72) derived from common gestational diseases, including pre-eclampsia (PE), HELLP, intrauterine growth restriction (IUGR), intrahepatic cholestasis of pregnancy and gestational diabetes, were assessed for their ABCA1 and ABCG1 expression levels and compared to age-matched control placentas with qRT-PCR and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 233, "end": 238}], "disease": [{"text": "intrahepatic cholestasis of pregnancy", "start": 145, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N314D and R333W mutations, previously found in Caucasians.", "output": {"entities": {"gene": [{"text": "GALT", "start": 85, "end": 89}], "disease": [{"text": "GALT deficiency", "start": 126, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALT", "start": 85, "end": 89}, "tail": {"text": "GALT deficiency", "start": 126, "end": 141}}]}}, "schema": []}
{"input": "Mutation analysis followed by a complementation study in yeast permitted us to ascribe the COX deficiency to a homozygous missense mutation in the COX10 gene.", "output": {"entities": {"gene": [{"text": "COX10", "start": 147, "end": 152}], "disease": [{"text": "COX deficiency", "start": 91, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COX10", "start": 147, "end": 152}, "tail": {"text": "COX deficiency", "start": 91, "end": 105}}]}}, "schema": []}
{"input": "Catalepsy, hypermotility, increase of striatal acetylcholine release induced by morphine and Met-enkephalin as affected by prolonged hydrocortisone and ACTH treatment.", "output": {"entities": {"gene": [{"text": "Met-enkephalin", "start": 93, "end": 107}], "disease": [{"text": "Catalepsy", "start": 0, "end": 9}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Met-enkephalin", "start": 93, "end": 107}, "tail": {"text": "Catalepsy", "start": 0, "end": 9}}]}}, "schema": []}
{"input": "The transcriptional potential of the oncostatin M-activated Stat molecules was demonstrated in two glioma cell lines (U87-MG, SNB-19) by transient transfection experiments using a Stat-responsive reporter plasmid.", "output": {"entities": {"gene": [{"text": "U87", "start": 118, "end": 121}], "disease": [{"text": "glioma", "start": 99, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Grade of ITPA deficiency was not associated with RbvDR (no deficiency: 60%, mild: 58%, moderate: 67%; p = ns), EPO use (no deficiency: 65%, mild: 58%, moderate: 56%; p = ns) or need for blood transfusion (no deficiency: 27%, mild: 17%, moderate: 33%; p = ns).", "output": {"entities": {"gene": [{"text": "EPO", "start": 111, "end": 114}], "disease": [{"text": "mild", "start": 76, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.", "output": {"entities": {"gene": [{"text": "PQBP1", "start": 82, "end": 87}], "disease": [{"text": "Golabi-Ito-Hall syndrome", "start": 0, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PQBP1", "start": 82, "end": 87}, "tail": {"text": "Golabi-Ito-Hall syndrome", "start": 0, "end": 24}}]}}, "schema": []}
{"input": "There was no association between levels of methylation in tumour and non-neoplastic skin for the genes MGMT and p16.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 103, "end": 107}], "disease": [{"text": "non-neoplastic", "start": 69, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The c. C1198G heterozygous mutation in the OPA1 gene may be a novel key pathogenic mutation in this pedigree with ADOA.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 43, "end": 47}], "disease": [{"text": "ADOA", "start": 114, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 43, "end": 47}, "tail": {"text": "ADOA", "start": 114, "end": 118}}]}}, "schema": []}
{"input": "Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.", "output": {"entities": {"gene": [{"text": "NOTCH3", "start": 41, "end": 47}], "disease": [{"text": "lateral meningocele syndrome", "start": 54, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOTCH3", "start": 41, "end": 47}, "tail": {"text": "lateral meningocele syndrome", "start": 54, "end": 82}}]}}, "schema": []}
{"input": "Collectively, these results reveal for the first time that interactions between AT (1) and 5-HT (2B) receptors coexpressed by noncardiomyocytes are limiting key events in adrenergic agonist-induced, angiotensin-dependent cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "5-HT (2B", "start": 91, "end": 99}], "disease": [{"text": "cardiac hypertrophy", "start": 221, "end": 240}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (2B", "start": 91, "end": 99}, "tail": {"text": "cardiac hypertrophy", "start": 221, "end": 240}}]}}, "schema": []}
{"input": "While a few recent reports have emerged analyzing ectopic HGFL overexpression of in cancer cells, no studies have examined host-produced HGFL in tumorigenesis.", "output": {"entities": {"gene": [{"text": "HGFL", "start": 58, "end": 62}], "disease": [{"text": "tumorigenesis", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "We analysed polymorphisms in APOA5, hepatic lipase and PPARγ genes and investigated their association with birth weight and serial changes in BMI.", "output": {"entities": {"gene": [{"text": "APOA5", "start": 29, "end": 34}], "disease": [{"text": "birth weight", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in FLNB/CRTAP are associated with bone mineral density (BMD) in Chinese.", "output": {"entities": {"gene": [{"text": "FLNB", "start": 17, "end": 21}], "disease": [{"text": "bone mineral density", "start": 48, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "METHODS: The expression of SNCG, MAP2, SDF-1 and CXCR4 was detected by SP immunohistochemical method in 225 cases of gastric adenocarcinoma and 105 cases of nonneoplastic adjacent gastric tissue.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 27, "end": 31}], "disease": [{"text": "gastric adenocarcinoma", "start": 117, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Together, these data suggest that Perrault syndrome in this family was caused by reduction of HARS2 activity.", "output": {"entities": {"gene": [{"text": "HARS2", "start": 94, "end": 99}], "disease": [{"text": "Perrault syndrome", "start": 34, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HARS2", "start": 94, "end": 99}, "tail": {"text": "Perrault syndrome", "start": 34, "end": 51}}]}}, "schema": []}
{"input": "LMO7b phosphorylation was blocked by exposing the cells to the JNK inhibitor SP600125 and by infecting cells with dominant-negative JNK or AMPK adenovirus.", "output": {"entities": {"gene": [{"text": "LMO7b", "start": 0, "end": 5}], "disease": [{"text": "adenovirus", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The following genes exhibited moderate changes in methylation: O-6-methylguanine-DNA methyltransferase (MGMT) (20%, 13/65), mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (hMLH1) (18%, 12/65), cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (p16 (INK4a)) (10%, 10/65), methylated in tumor 1 (MINT1) (15%, 10/65), methylated in tumor 31 (MINT31) (11%, 7/65).", "output": {"entities": {"gene": [{"text": "MINT1", "start": 325, "end": 330}], "disease": [{"text": "colon cancer", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Death ligands such as tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) and certain forms of CD95L are attractive therapeutic options for metastatic melanoma.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 85, "end": 90}], "disease": [{"text": "metastatic melanoma", "start": 158, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The translocation results in the fusion of two genes, collagen type I alpha 1 (COL1A1) and platelet-derived growth factor B-chain (PDGFB).", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 79, "end": 85}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Haplotype analysis of five FOXP3 polymorphisms identified a haplotype CTTGA associated with endometriosis and ACTAG associated with idiopathic infertility.", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 27, "end": 32}], "disease": [{"text": "infertility", "start": 143, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to localize expression and biological activity of PAR-1 and PAR-2 in normal and pathological cutaneous scars.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 76, "end": 81}], "disease": [{"text": "scars", "start": 129, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene encoding the RNA-binding protein fused in sarcoma (FUS) account for 4-5% of familial cases of amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 35, "end": 54}], "disease": [{"text": "sarcoma", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The mutations in either POMT1 or POMT2 can lead to Walker-Warburg syndrome, a congenital muscular dystrophy with abnormal neuronal migration.", "output": {"entities": {"gene": [{"text": "POMT2", "start": 33, "end": 38}], "disease": [{"text": "Walker-Warburg syndrome", "start": 51, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POMT2", "start": 33, "end": 38}, "tail": {"text": "Walker-Warburg syndrome", "start": 51, "end": 74}}]}}, "schema": []}
{"input": "Taken together, these data demonstrate a selective and robust reduction in anxiety-and depression-related behavior in NMDA receptor NR2A subunit KO mice.", "output": {"entities": {"gene": [{"text": "NR2A", "start": 132, "end": 136}], "disease": [{"text": "depression", "start": 87, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR2A", "start": 132, "end": 136}, "tail": {"text": "depression", "start": 87, "end": 97}}]}}, "schema": []}
{"input": "Few cases of asymptomatic cholesteryl ester storage disease (CESD) due to low enzymatic activity of human lysosomal acid lipase/cholesteryl ester hydrolase (hLAL) have been reported thus far in adults Here, we describe a 51-year-old man with a long clinical history of mixed hyperlipoproteinemia and severe premature atherosclerosis, but with no signs of hepatomegaly, liver dysfunction, or splenomegaly.", "output": {"entities": {"gene": [{"text": "lysosomal acid lipase", "start": 106, "end": 127}], "disease": [{"text": "asymptomatic", "start": 13, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "This study presents PTP1B as a mechanism-based therapeutic target for RTT, validating a unique strategy for treating the disease by modifying signal transduction pathways with small-molecule drugs.", "output": {"entities": {"gene": [{"text": "PTP1B", "start": 20, "end": 25}], "disease": [{"text": "RTT", "start": 70, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTP1B", "start": 20, "end": 25}, "tail": {"text": "RTT", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "This translocation generated four RUNX1/LPXN and one LPXN/RUNX1 chimeric transcripts.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 34, "end": 39}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The sequence change described here may be a novel pathogenic mutation of TOR1A in DYT1.", "output": {"entities": {"gene": [{"text": "TOR1A", "start": 73, "end": 78}], "disease": [{"text": "DYT1", "start": 82, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TOR1A", "start": 73, "end": 78}, "tail": {"text": "DYT1", "start": 82, "end": 86}}]}}, "schema": []}
{"input": "These results led us to propose that osteoclasts play a part in CFA-induced inflammatory pain through an activation of the acid-sensing receptors including ASICs and TRPV1 by creating acidosis.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 166, "end": 171}], "disease": [{"text": "acidosis", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "TLR2 and TLR4 surface expression were assessed on CD14 (+) monocytes, CD4 (+) and CD8 (+) T cells in treatment naïve patients with chronic HCV infection with fibrosis, without fibrosis, co-infected with human immunodeficiency virus (HIV), and in healthy controls.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 0, "end": 4}], "disease": [{"text": "fibrosis", "start": 158, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The protective effect of r-OPN was associated with significantly rescued neuronal cells in the peri-hematoma region as well as a decrease in the Stat1 phosphorylation, iNOS induction, MMP-9 activation, and ZO-1 degradation.", "output": {"entities": {"gene": [{"text": "OPN", "start": 27, "end": 30}], "disease": [{"text": "hematoma", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We have recently reported that bcl-2 overexpression and hypoxia synergistically interact to modulate vascular endothelial growth factor (VEGF) and in vivo angiogenesis in tumour cells through VEGF mRNA stabilization and hypoxia-inducible factor 1-mediated transcriptional activity.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 137, "end": 141}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "To determine the adaptive changes in several molecules regulating muscle hypertrophy and atrophy after unloading, we examined whether unilateral lower limb suspension changes the mRNA and protein levels of SRF-linked (RhoA, RhoGDI, STARS and SRF), myostatin-linked (myostatin, Smad2, Smad3 and FLRG) and Foxo-linked (P-Akt, Foxo1, Foxo3a and Atrogin-1) mediators.", "output": {"entities": {"gene": [{"text": "STARS", "start": 232, "end": 237}], "disease": [{"text": "muscle hypertrophy", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Genetic variants in TGFB2, TGFBR2, and SMAD3 and their haplotypes were consistently and reproducibly associated with KD susceptibility, coronary artery aneurysm formation, aortic root dilatation, and intravenous immunoglobulin treatment response in different cohorts.", "output": {"entities": {"gene": [{"text": "TGFB2", "start": 20, "end": 25}], "disease": [{"text": "coronary artery aneurysm", "start": 136, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "MiRP2 forms potassium channels in skeletal muscle with Kv3. 4 and is associated with periodic paralysis.", "output": {"entities": {"gene": [{"text": "Kv3. 4", "start": 55, "end": 61}], "disease": [{"text": "periodic paralysis", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Thus, KCNK1 suppresses phenobarbital-induced hyperplasia.", "output": {"entities": {"gene": [{"text": "KCNK1", "start": 6, "end": 11}], "disease": [{"text": "hyperplasia", "start": 45, "end": 56}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "KCNK1", "start": 6, "end": 11}, "tail": {"text": "hyperplasia", "start": 45, "end": 56}}]}}, "schema": []}
{"input": "The mutation frequency of MT-RNR1 m. 1555A > G in familial probands was significantly higher than in sporadic patients (χ (2) test, P = 0. 000), while there were no significant differences in the mutation frequencies of GJB2 and SLC26A4 between the familial and sporadic groups (χ (2) test, P > 0. 05).", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 229, "end": 236}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We performed full-gene mutational analysis of both PTCH1 and SUFU in three familial medulloblastoma pedigrees and 83 individuals with sporadic non-familial medulloblastoma.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 61, "end": 65}], "disease": [{"text": "sporadic", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "K-Ras (K-Ras gene) siRNA transfection of EC9706 esophageal squamous carcinoma cells decreased the expression of K-Ras, MAPK1 and cyclin D1 at the mRNA and protein level.", "output": {"entities": {"gene": [{"text": "K-Ras gene", "start": 7, "end": 17}], "disease": [{"text": "esophageal", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Ileal mucosal thickness, villus height, and crypt depth in GH treatment rats were obviously increased compared with those of ANP rats.", "output": {"entities": {"gene": [{"text": "ANP", "start": 125, "end": 128}], "disease": [{"text": "height", "start": 32, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Age-related hearing impairment (ARHI), or presbycusis, is a common condition of the elderly that results in significant communication difficulties in daily life.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 32, "end": 36}], "disease": [{"text": "presbycusis", "start": 42, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Sensitivity of malignant peripheral nerve sheath tumor cells to TRAIL is augmented by loss of NF1 through modulation of MYC/MAD and is potentiated by curcumin through induction of ROS.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 64, "end": 69}], "disease": [{"text": "malignant peripheral nerve sheath tumor", "start": 15, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Mutations in CPS1 were identified in 16 of 18 patients with a clinical diagnosis of CPS1D.", "output": {"entities": {"gene": [{"text": "CPS1", "start": 13, "end": 17}], "disease": [{"text": "CPS1D", "start": 84, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CPS1", "start": 13, "end": 17}, "tail": {"text": "CPS1D", "start": 84, "end": 89}}]}}, "schema": []}
{"input": "In the ALDH2 deficient genotype, however, we could not evaluate interactions of smoking and alcohol drinking on colorectal polyp development because of the small sample size of heavy alcohol drinkers.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 7, "end": 12}], "disease": [{"text": "smoking", "start": 80, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "AST also suppressed the induction of HIF-1α and VEGF under CoCl2-mimicked hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 48, "end": 52}], "disease": [{"text": "hypoxia", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Three novel mutations of the proto-oncogene KIT cause human piebaldism.", "output": {"entities": {"gene": [{"text": "KIT", "start": 44, "end": 47}], "disease": [{"text": "piebaldism", "start": 60, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIT", "start": 44, "end": 47}, "tail": {"text": "piebaldism", "start": 60, "end": 70}}]}}, "schema": []}
{"input": "The early-onset dysthymics showed a higher number of persons who had never married, who presented a more traumatic and frustrating childhood background, and who had a higher rate of DST non-suppressors and blunted TSH responses after TRH administration during the period of their double depression.", "output": {"entities": {"gene": [{"text": "TRH", "start": 234, "end": 237}], "disease": [{"text": "depression", "start": 287, "end": 297}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 234, "end": 237}, "tail": {"text": "depression", "start": 287, "end": 297}}]}}, "schema": []}
{"input": "Clostridium spiroforme produces the binary actin-ADP-ribosylating toxin CST (C. spiroforme toxin), which has been proposed to be responsible for diarrhea, enterocolitis, and eventually death, especially in rabbits.", "output": {"entities": {"gene": [{"text": "ADP", "start": 49, "end": 52}], "disease": [{"text": "enterocolitis", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "DNA damage recognition subunits such as DDB2 and XPC protect the human skin from ultraviolet (UV) light-induced genome instability and cancer, as demonstrated by the devastating inherited syndrome xeroderma pigmentosum.", "output": {"entities": {"gene": [{"text": "DDB2", "start": 40, "end": 44}], "disease": [{"text": "genome instability", "start": 112, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "To determine susceptibility to kuru and its role in the spread and elimination of the epidemic, we analyzed the PRNP gene coding sequences in 5 kuru patients; no germline mutations were found.", "output": {"entities": {"gene": [{"text": "PRNP", "start": 112, "end": 116}], "disease": [{"text": "kuru", "start": 31, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRNP", "start": 112, "end": 116}, "tail": {"text": "kuru", "start": 31, "end": 35}}]}}, "schema": []}
{"input": "Knockdown of c-Myc inhibited colon cancer cell proliferation largely through downregulating GCN5 transcription, which can be fully rescued by the ectopic GCN5 expression.", "output": {"entities": {"gene": [{"text": "GCN5", "start": 92, "end": 96}], "disease": [{"text": "colon cancer", "start": 29, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "On histopathological evaluation, endomysial fibrosis, perimysial fibrosis, and histopathological state (reflecting fibrosis, adiposis, necrosis, and variation in fiber size) were more severe in merosin-deficient CMD.", "output": {"entities": {"gene": [{"text": "merosin", "start": 194, "end": 201}], "disease": [{"text": "fibrosis", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.", "output": {"entities": {"gene": [{"text": "TNFRSF1A", "start": 82, "end": 90}], "disease": [{"text": "tumor-necrosis-factor receptor-associated periodic syndrome", "start": 4, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFRSF1A", "start": 82, "end": 90}, "tail": {"text": "tumor-necrosis-factor receptor-associated periodic syndrome", "start": 4, "end": 63}}]}}, "schema": []}
{"input": "In skeletal muscle, the reduced GLUT4 expression in severe insulin resistance was associated with decreased ubiquitin-conjugating enzyme 9 (UBC9) expression while expression of GLUT1, TBC1D1 and AS160 was not significantly different among type 2 diabetic patients and matched controls.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 177, "end": 182}], "disease": [{"text": "insulin resistance", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Genistein (5-50 muM) significantly inhibited the growth of human umbilical vein endothelial cells (HUVECs) in control media when stimulated by supplemental VEGF or when cultured in hypoxia-exposed PC-3 prostate adenocarcinoma cell conditioned media.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 156, "end": 160}], "disease": [{"text": "hypoxia", "start": 181, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "In 1993, another neuropathy-known as hereditary neuropathy with liability to pressure palsies (HNPP)-has been shown to be caused by a 17p11. 2--p12 deletion.", "output": {"entities": {"gene": [{"text": "p12", "start": 144, "end": 147}], "disease": [{"text": "hereditary neuropathy with liability to pressure palsies", "start": 37, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Both mammographic density and circulating IGF-I levels appear to be partly heritable traits.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 42, "end": 47}], "disease": [{"text": "mammographic density", "start": 5, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "In response to artery injury using a carotid artery ligation model, Tsc2 (+/-) mice significantly increased neointima formation compared with the control mice, and the neointima formation was inhibited by treatment with rapamycin.", "output": {"entities": {"gene": [{"text": "Tsc2", "start": 68, "end": 72}], "disease": [{"text": "neointima formation", "start": 108, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "MicroRNA-30c-2 * expressed in ovarian cancer cells suppresses growth factor-induced cellular proliferation and downregulates the oncogene BCL9.", "output": {"entities": {"gene": [{"text": "BCL9", "start": 138, "end": 142}], "disease": [{"text": "ovarian cancer", "start": 30, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCL9", "start": 138, "end": 142}, "tail": {"text": "ovarian cancer", "start": 30, "end": 44}}]}}, "schema": []}
{"input": "Finally, these results provide additional evidence that BCL2-IGH translocation measurements could be a measure of acquired genetic instability in relation to genotoxic exposure in a gene directly relevant in term of lymphomagenesis.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 56, "end": 60}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Thus the formation of malignant neurofibrosarcomas may result from several independent genetic events including mutation of the NF1 gene, whose mechanism of tumorigenesis remains uncertain, and subsequent loss of a \" tumor suppressor \" gene on 17p, most likely p53.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 128, "end": 136}], "disease": [{"text": "tumorigenesis", "start": 157, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Sequencing analysis of the entire coding region revealed mutations changing the p53 amino acid composition in all six endometrial carcinoma cell lines tested (Ishikawa, Hecl-A, Hecl-B, KLE, RL95-2, and AN-3).", "output": {"entities": {"gene": [{"text": "Hecl", "start": 169, "end": 173}], "disease": [{"text": "endometrial carcinoma", "start": 118, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Because the expression of two well-characterized mucin antigens, MUC1 and MUC2, in colorectal adenocarcinomas (CRCs) has been correlated with the aggressiveness of CRCs, we evaluated the prognostic value of the expression of MUC1 and MUC2 in CRCs collected from African-American and Caucasian patients.", "output": {"entities": {"gene": [{"text": "MUC2", "start": 74, "end": 78}], "disease": [{"text": "aggressiveness", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Following B19 infection, serial specific IgG concentrations remained high after 5 years in only 45% of SS patients, although the rarity of recurrent aplasia suggests lifelong immunity.", "output": {"entities": {"gene": [{"text": "B19", "start": 10, "end": 13}], "disease": [{"text": "aplasia", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Short-term (30 min) pretreatment with forskolin (FSK; 10 muM), a direct activator of adenylyl cyclase, in combination with the cyclic nucleotide phosphodiesterase inhibitor isobutylmethylxanthine (IBMX; 200 muM), attenuated CCE in PASMC from normal subjects, patients without pulmonary hypertension (NPH), and patients with IPAH.", "output": {"entities": {"gene": [{"text": "cyclic nucleotide phosphodiesterase", "start": 127, "end": 162}], "disease": [{"text": "pulmonary hypertension", "start": 276, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "The APE1/Ref-1-141T/G polymorphism was analyzed in a case-control study including 766 glioma patients (among them 241 glioblastoma, 284 astrocytomas except for glioblastoma and 241 other gliomas) and 824 cancer-free controls from eastern China.", "output": {"entities": {"gene": [{"text": "Ref-1", "start": 9, "end": 14}], "disease": [{"text": "astrocytomas", "start": 136, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "The most important extra-renal manifestation of autosomal dominant polycystic kidney disease (ADPKD) in terms of debilitating injury and premature death is the development of intracranial aneurysms (IAs) and other vascular complications, resulting in subarachnoid hemorrhage (SAH).", "output": {"entities": {"gene": [{"text": "SAH", "start": 276, "end": 279}], "disease": [{"text": "autosomal dominant polycystic kidney disease", "start": 48, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Two SNPs near the BAT2 and MC4R genes and 3 SNPs within the FTO, SEC16B, and SH2B1 genes were significantly associated with body mass index (weight (kg)/height (m) (2)), body weight, and the prevalence of obesity.", "output": {"entities": {"gene": [{"text": "BAT2", "start": 18, "end": 22}], "disease": [{"text": "body mass index", "start": 124, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Methylated CpG island amplification coupled with representational difference analysis (MCA-RDA) was performed on 3 couples of endometriosis-associated ovarian carcinoma (EAOC) fresh samples to identify differentially methylated candidate genes related to malignant transformation of ovarian EMS; Methylation-specific PCR (MSP) and immunohistochemistry were performed in 30 EAOC samples to detected the methylation status and protein expression of RASSF2 gene to verify the reliability of MCA-RDA results.", "output": {"entities": {"gene": [{"text": "RASSF2 gene", "start": 447, "end": 458}], "disease": [{"text": "ovarian carcinoma", "start": 151, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Many of these silent varieties (beta + thalassemia due to the-101 C--> T mutation; alpha + thalassemia from a deletion or point mutation of an alpha gene; alpha alpha alpha triplication) are quite frequent in the overall group of thalassemias.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 143, "end": 153}], "disease": [{"text": "thalassemias", "start": 230, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "We documented inhibition of phosphorylation of p190 by EGFR-TKI treatment in lung adenocarcinoma cell lines.", "output": {"entities": {"gene": [{"text": "p190", "start": 47, "end": 51}], "disease": [{"text": "lung adenocarcinoma", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The clinical consequences of SALL4-SOX2 association suggest a possible functional interaction between these factors in regulation of ESCC maintenance and aggressiveness and introduce these regulators of stemness state as potentially interesting therapeutic targets to bring new opportunities for onco-therapeutic modalities.", "output": {"entities": {"gene": [{"text": "SALL4", "start": 29, "end": 34}], "disease": [{"text": "aggressiveness", "start": 154, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.", "output": {"entities": {"gene": [{"text": "hypoxanthine-guanine phosphoribosyltransferase", "start": 54, "end": 100}], "disease": [{"text": "Kelley-Seegmiller syndrome", "start": 0, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hypoxanthine-guanine phosphoribosyltransferase", "start": 54, "end": 100}, "tail": {"text": "Kelley-Seegmiller syndrome", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "The tumor cells are diffusely reactive for CD34 and characterized by a translocation involving chromosomes 17 and 22 or a supernumerary ring chromosome that results in the fusion of exon 2 of platelet-derived growth factor beta (PDGFβ; 22q13) to various exons of collagen type 1 alpha 1 (COL1A1; 17q22).", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 288, "end": 294}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The gene for ataxia-telangiectasia (A-T: MIM: #208900), ATM, spans about 150 kb of genomic DNA and is composed of 62 coding exons.", "output": {"entities": {"gene": [{"text": "MIM", "start": 41, "end": 44}], "disease": [{"text": "telangiectasia", "start": 20, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.", "output": {"entities": {"gene": [{"text": "ATP1A1", "start": 30, "end": 36}], "disease": [{"text": "Seizures", "start": 76, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATP1A1", "start": 30, "end": 36}, "tail": {"text": "Seizures", "start": 76, "end": 84}}]}}, "schema": []}
{"input": "Significant clinical data support the use of formoterol in combination with ICSs for the treatment of asthma, with studies demonstrating improved pulmonary function and symptom scores and decreased need for maintenance ICSs and short-acting beta2-adrenergic agonists (SABAs) as relief medication.", "output": {"entities": {"gene": [{"text": "beta2", "start": 241, "end": 246}], "disease": [{"text": "pulmonary function", "start": 146, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "MyD88 KO mice developed a Th2-dominant whereas wild-type mice developed a Th1/Th17-dominant immune response after chlamydial infection.", "output": {"entities": {"gene": [{"text": "Th1", "start": 74, "end": 77}], "disease": [{"text": "chlamydial infection", "start": 114, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to investigate the role of adrenomedullin (ADM) as a hypoxia-inducible marker of clinically relevant tIssue hypoxia in acute birth asphyxia of term newborn infants.", "output": {"entities": {"gene": [{"text": "ADM", "start": 76, "end": 79}], "disease": [{"text": "hypoxia", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease.", "output": {"entities": {"gene": [{"text": "pendrin", "start": 58, "end": 65}], "disease": [{"text": "Pendred syndrome", "start": 72, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "pendrin", "start": 58, "end": 65}, "tail": {"text": "Pendred syndrome", "start": 72, "end": 88}}]}}, "schema": []}
{"input": "Our findings, combined with evidence from preclinical and animal studies, suggest that HOMER1 plays a role in the etiology of major depression and that the genetic variation affects depression via the dysregulation of cognitive and motivational processes.", "output": {"entities": {"gene": [{"text": "HOMER1", "start": 87, "end": 93}], "disease": [{"text": "depression", "start": 132, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOMER1", "start": 87, "end": 93}, "tail": {"text": "depression", "start": 132, "end": 142}}]}}, "schema": []}
{"input": "Mutation of sodium/glucose co-transporter 2 (SGLT2) has been identified and was recently reported to be involved in FRG.", "output": {"entities": {"gene": [{"text": "SGLT2", "start": 45, "end": 50}], "disease": [{"text": "FRG", "start": 116, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGLT2", "start": 45, "end": 50}, "tail": {"text": "FRG", "start": 116, "end": 119}}]}}, "schema": []}
{"input": "In a sample of British women, body-mass index (BMI), systolic blood pressure, waist-to-hip ratio, serum concentrations of HDL cholesterol and triglycerides, and insulin resistance were all associated with plasma CRP concentration.", "output": {"entities": {"gene": [{"text": "CRP", "start": 212, "end": 215}], "disease": [{"text": "waist-to-hip ratio", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Women carrying the AA genotype for rs1995051 (IGFBP1) showed that borderline significantly lower IGF-I levels (P = 0. 06) and significantly lower mammographic density (40. 3% compared to 43. 5% in the GG/GA genotypes; P = 0. 05).", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 97, "end": 102}], "disease": [{"text": "mammographic density", "start": 146, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the effect on breast cancer survival of germline variation in these genes in 925 Finnish breast cancer patients and further analyzed five single nucleotide polymorphisms (SNPs) in PRKAG2 (rs1029946, rs4726050, rs6464153, rs7789699) and PPP2R2B (rs10477313) for 10-year survival in breast cancer patients, interaction with TP53 R72P and MDM2-SNP309, outcome after specific adjuvant therapy and correlation to tumor characteristics in 4, 701 invasive cases from four data sets.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 202, "end": 208}], "disease": [{"text": "tumor", "start": 430, "end": 435}]}, "relations": {}}, "schema": []}
{"input": "We present an 8-year-old boy with folate receptor alpha (FRα) defect and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM syndrome).", "output": {"entities": {"gene": [{"text": "folate receptor alpha", "start": 34, "end": 55}], "disease": [{"text": "microtia", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to address the participation of EMT in the metastatic evolution of pheochromocytoma/paraganglioma.", "output": {"entities": {"gene": [{"text": "EMT", "start": 58, "end": 61}], "disease": [{"text": "pheochromocytoma", "start": 93, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that patients with the HTR2A haplotype [-1438A,-783A, 102T, 452Tyr] are less likely to develop metabolic abnormalities like C-peptide and insulin elevations during clozapine and olanzapine treatment.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 44, "end": 49}], "disease": [{"text": "abnormalities", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "UMOD, SHROOM3, STC1, LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2/SH2B3, DACH1, UBE2Q2, and SLC7A9 were uncovered as loci associated with estimated glomerular filtration rate (eGFR) and CKD, and CUBN as a locus for albuminuria in cross-sectional data of general population studies.", "output": {"entities": {"gene": [{"text": "TFDP2", "start": 41, "end": 46}], "disease": [{"text": "albuminuria", "start": 242, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, hGLP-2 (3-33) also reduced the colitis damage score by 32. 0 & #177; 8. 4% (P & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "GLP-2", "start": 15, "end": 20}], "disease": [{"text": "colitis", "start": 45, "end": 52}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GLP-2", "start": 15, "end": 20}, "tail": {"text": "colitis", "start": 45, "end": 52}}]}}, "schema": []}
{"input": "Tumor growth factor-beta1 mRNA, which is believed to stimulate collagen synthesis, was expressed in both desmoid tumors and HSF to the same extent.", "output": {"entities": {"gene": [{"text": "HSF", "start": 124, "end": 127}], "disease": [{"text": "desmoid tumors", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "p65 expression in human glioma cells (U251 and] U87) transfected with pFv/nu was significantly decreased.", "output": {"entities": {"gene": [{"text": "U87", "start": 48, "end": 51}], "disease": [{"text": "glioma", "start": 24, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "The newly developed LAMP assay was confirmed to be a rapid, quantifiable, and highly sensitive and specific system effective in the diagnosis of MPXV infections.", "output": {"entities": {"gene": [{"text": "LAMP", "start": 20, "end": 24}], "disease": [{"text": "infections", "start": 150, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "These functional assays suggest that transcriptional dysregulation by mutant EVI1 could be associated with the development of RUSAT.", "output": {"entities": {"gene": [{"text": "EVI1", "start": 77, "end": 81}], "disease": [{"text": "RUSAT", "start": 126, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EVI1", "start": 77, "end": 81}, "tail": {"text": "RUSAT", "start": 126, "end": 131}}]}}, "schema": []}
{"input": "After SCT, minimal residual disease (MRD) was monitored by polymerase chain reaction (PCR) in seven patients with a BCL-2/IgH translocation and in 13 with a clonal immunoglobulin heavy chain (IgH) rearrangement.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 116, "end": 121}], "disease": [{"text": "translocation", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Secondary outcomes included changes in ulnar compound muscle action potential amplitudes (CMAP), handheld dynamometry, pulmonary function, and Pediatric Quality of Life Inventory scores.", "output": {"entities": {"gene": [{"text": "CMAP", "start": 90, "end": 94}], "disease": [{"text": "pulmonary function", "start": 119, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "In vivo expression of MUC18/MCAM (CD146) was confirmed on CD3 + T cells infiltrating delayed-type hypersensitivity lesions of the skin, on synovial fluid T cells of rheumatoid arthritis patients, and on distinct T leukemia cells.", "output": {"entities": {"gene": [{"text": "CD146", "start": 34, "end": 39}], "disease": [{"text": "hypersensitivity", "start": 98, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The PI3-K/AKT pathway might be more relevant than MEK/MAPK for therapeutic targeting in imatinib-resistant GIST patients with secondary mutation.", "output": {"entities": {"gene": [{"text": "PI3", "start": 4, "end": 7}], "disease": [{"text": "secondary", "start": 126, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare and potentially fatal autosomal recessive disorder of fatty acid metabolism.", "output": {"entities": {"gene": [{"text": "3-hydroxyacyl-CoA dehydrogenase", "start": 11, "end": 42}], "disease": [{"text": "disorder of fatty acid metabolism", "start": 114, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The Cdx-2 GG genotype and baT haplotype are associated with a suppressed Th1 and increased IL-10 response, which suggests that 1, 25 (OH) (2) D (3) probably through the VDR polymorphic variants augments the anti-inflammatory response at the site of M. tuberculosis infection.", "output": {"entities": {"gene": [{"text": "Th1", "start": 73, "end": 76}], "disease": [{"text": "tuberculosis infection", "start": 252, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "Epistasis between IL1A, IL1B, TNF, HTR2A, 5-HTTLPR and TPH2 variations does not impact alcohol dependence disorder features.", "output": {"entities": {"gene": [{"text": "IL1B", "start": 24, "end": 28}], "disease": [{"text": "alcohol dependence disorder", "start": 87, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL1B", "start": 24, "end": 28}, "tail": {"text": "alcohol dependence disorder", "start": 87, "end": 114}}]}}, "schema": []}
{"input": "The CCL phenotype is genetically heterogeneous with a second gene on chromosome 22q11. 2, CRYBB2.", "output": {"entities": {"gene": [{"text": "CRYBB2", "start": 90, "end": 96}], "disease": [{"text": "CCL", "start": 4, "end": 7}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRYBB2", "start": 90, "end": 96}, "tail": {"text": "CCL", "start": 4, "end": 7}}]}}, "schema": []}
{"input": "In a multivariable model that included only the most statistically significant findings from univariable modeling and adjusted for pigmentary phenotype, back nevi, and baseline features, we found TERT/CLPTM1L rs401681 (P = 0. 004), TYRP1 rs2733832 (P = 0. 006), MTAP rs1335510 (P = 0. 0005), TYR rs10830253 (P = 0. 003), and MX2 rs45430 (P = 0. 008) to be significantly associated with multiple primary melanoma, while NCOA6 rs4911442 approached significance (P = 0. 06).", "output": {"entities": {"gene": [{"text": "MX2", "start": 325, "end": 328}], "disease": [{"text": "nevi", "start": 158, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "In mice, pulmonary ATP and cytokine concentrations, inflammation and emphysema were analysed in the presence or absence of CD39. Following acute cigarette smoke exposure CD39 was upregulated in BALF cells in smokers with further increases in COPD patients.", "output": {"entities": {"gene": [{"text": "CD39", "start": 123, "end": 127}], "disease": [{"text": "inflammation", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The encoded polypeptide also shows a 64. 4% identity with RAL-1, an Ag of the river blindness pathogen Onchocerca volvulus.", "output": {"entities": {"gene": [{"text": "RAL", "start": 58, "end": 61}], "disease": [{"text": "river blindness", "start": 78, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "This study aimed at investigating the roles of the 5-HT (1B) R, and its adapter protein p11, in emotional memory and object recognition memory processes by the use of p11 knockout (p11KO) mice, a genetic model for aspects of depression-related states.", "output": {"entities": {"gene": [{"text": "5-HT (1B) R", "start": 51, "end": 62}], "disease": [{"text": "depression", "start": 225, "end": 235}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (1B) R", "start": 51, "end": 62}, "tail": {"text": "depression", "start": 225, "end": 235}}]}}, "schema": []}
{"input": "Twenty-one paraffin-embedded clear cell adenocarcinomas were immunohistochemically stained for bcl-2 (antibody M 887, Dako, Carpinteria, CA) and DNA fragmentation (ApopTag, Oncor, Gaithersburg, MD), a marker for apoptosis.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 95, "end": 100}], "disease": [{"text": "clear cell adenocarcinomas", "start": 29, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bcl-2", "start": 95, "end": 100}, "tail": {"text": "clear cell adenocarcinomas", "start": 29, "end": 55}}]}}, "schema": []}
{"input": "A multistage protozoan parasitic disease was used as a cachexia model to study the effects of daily administration of bovine growth hormone (GH) on endocrine and body composition changes of young calves from the onset of the acute phase response (APR).", "output": {"entities": {"gene": [{"text": "APR", "start": 247, "end": 250}], "disease": [{"text": "parasitic disease", "start": 23, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Previous reports using this technique showed a substantial reduction in the HCR of sunlamp-exposed Ad 2 for infection of excision repair deficient fibroblasts from patients with xeroderma pigmentosum.", "output": {"entities": {"gene": [{"text": "HCR", "start": 76, "end": 79}], "disease": [{"text": "xeroderma pigmentosum", "start": 178, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "The phosphorylation state of 31 protein kinases/signaling proteins and superoxide anion (O (2) (-)) production in the contralateral and ipsilateral cortex was measured after permanent middle cerebral artery occlusion (pMCAO) in ovariectomized rats treated with placebo or TMX.", "output": {"entities": {"gene": [{"text": "TMX", "start": 272, "end": 275}], "disease": [{"text": "middle cerebral artery occlusion", "start": 184, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "The expression of immune response and' inflammatory disease' genes (down-regulated: TNFalpha, IL6, S100A8, FGF7, PTGS2; up-regulated: PPARalpha, MGLL, MYLK, PPSS23, ABCB4 with EPA and/or AA) was affected in IL10 (-/-) mice fed EPA-and AA-enriched diets, compared to those fed AIN-76A diet.", "output": {"entities": {"gene": [{"text": "ABCB4", "start": 165, "end": 170}], "disease": [{"text": "inflammatory disease", "start": 39, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Endogenous FPR agonist activity released by necrotic tumor cells was assessed by measuring FPR activation in an FPR-transfected basophil leukemia cell line and live U-87 cells.", "output": {"entities": {"gene": [{"text": "FPR", "start": 11, "end": 14}], "disease": [{"text": "necrotic tumor", "start": 44, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The overexpression of interleukin-8 (IL-8) in metastatic breast cancer cells prompted additional investigation of the role of IL-8 in osteolysis.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 37, "end": 41}], "disease": [{"text": "osteolysis", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In experimental and clinical neuroblastoma NESP55 immunoreactivity was specific for regions of chronic hypoxia.", "output": {"entities": {"gene": [{"text": "NESP55", "start": 43, "end": 49}], "disease": [{"text": "hypoxia", "start": 103, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NESP55", "start": 43, "end": 49}, "tail": {"text": "hypoxia", "start": 103, "end": 110}}]}}, "schema": []}
{"input": "Loss of E-cadherin was associated with cell grade, macroscopic type, perineural invasion, and tumor budding, β-catenin with microsatellite instability and tumor site, and S100A4 with growth type, macroscopic type, AJCC stage, lymphovascular invasion, and perineural invasion.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 8, "end": 18}], "disease": [{"text": "microsatellite instability", "start": 124, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that analysis of STR variation in a relatively small number of MSI-H cancers may aid in pre-evaluation of their allelic distribution in a population.", "output": {"entities": {"gene": [{"text": "STR", "start": 37, "end": 40}], "disease": [{"text": "cancers", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In tissue biopsies, significant fold changes were observed for ADAM12, POSTN, and TNC in the cord and/or nodule when compared with that of normal fascia.", "output": {"entities": {"gene": [{"text": "POSTN", "start": 71, "end": 76}], "disease": [{"text": "nodule", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In contrast, one case of nasal lymphoma with CD2 + CD3 (Leu4) + CD8 + CD19-CD56 + phenotype expressed full-length Talpha, Tbeta, and Tgamma transcripts rearranged TCR beta, gamma, and deleted TCR delta genes, indicating T-lineage, These results support the view that nasal lymphomas can separated into NK-cell and T-cell neoplasms, based on differences genotypic characteristics.", "output": {"entities": {"gene": [{"text": "TCR delta genes", "start": 192, "end": 207}], "disease": [{"text": "lymphomas", "start": 273, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis that DCX inhibits glioma U87 cell mitosis and invasion.", "output": {"entities": {"gene": [{"text": "U87", "start": 50, "end": 53}], "disease": [{"text": "glioma", "start": 43, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Male and sham ovariectomized female rats were subjected to sham colon ascendens stent peritonitis (CASP), and they were compared to male and ovariectomized female rats underwent CASP and either estradiol receptor α (ER-α) agonist propyl pyrazole triol (PPT), estradiol receptor ß (ER-ß) agonist diarylpropiolnitrile (DPN), or vehicle treatment.", "output": {"entities": {"gene": [{"text": "PPT", "start": 253, "end": 256}], "disease": [{"text": "peritonitis", "start": 86, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The near absence of OB-Rb mRNA and the similarly decreased SOCS3 expression in obese adipose tissue may reflect a defective leptin signaling pathway that could play a role in the impairment of insulin sensitivity associated with excess adiposity.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 59, "end": 64}], "disease": [{"text": "insulin sensitivity", "start": 193, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Histone methyltransferase EZH2 induces Akt-dependent genomic instability and BRCA1 inhibition in breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 77, "end": 82}], "disease": [{"text": "genomic instability", "start": 53, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have analyzed polyamine concentrations and ODC activity in samples from benign breast diseases (n = 36), benign breast tissue adjacent to the primary carcinoma (n = 19), and breast carcinoma (n = 104).", "output": {"entities": {"gene": [{"text": "ODC", "start": 68, "end": 71}], "disease": [{"text": "primary carcinoma", "start": 167, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.", "output": {"entities": {"gene": [{"text": "PHOX2B", "start": 80, "end": 86}], "disease": [{"text": "congenital central hypoventilation syndrome", "start": 90, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PHOX2B", "start": 80, "end": 86}, "tail": {"text": "congenital central hypoventilation syndrome", "start": 90, "end": 133}}]}}, "schema": []}
{"input": "To determine the association between the expression of p63 gene isoforms (TA and DeltaN) and salivary gland tumorigenesis, we performed reverse transcription-polymerase chain reaction analysis of these markers in 71 benign and malignant salivary gland neoplasms.", "output": {"entities": {"gene": [{"text": "p63", "start": 55, "end": 58}], "disease": [{"text": "tumorigenesis", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The rat C6 and 9L glioma and the human U87 glioma cell lines implanted either s. c. or intracranially in Swiss nude mice responded to angiostatin in a dose-dependent fashion with growth inhibition to 11% of controls (P < 0. 01), without detectable signs of toxicity.", "output": {"entities": {"gene": [{"text": "U87", "start": 39, "end": 42}], "disease": [{"text": "glioma", "start": 18, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "In contrast, involuted hemangioma specimens revealed significantly lower numbers of cells staining positive for basic fibroblast growth factor and vascular endothelial growth factor messenger RNA (44 +/-11 and 431 +/-76 cells/mm2, respectively; p < 0. 05).", "output": {"entities": {"gene": [{"text": "mm2", "start": 226, "end": 229}], "disease": [{"text": "hemangioma", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.", "output": {"entities": {"gene": [{"text": "lamin A/C gene", "start": 26, "end": 40}], "disease": [{"text": "mild", "start": 127, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the potential influence of Foxp3 polymorphism on preeclampsia (PE) susceptibility, we conducted a case-control study in Han Chinese women.", "output": {"entities": {"gene": [{"text": "Foxp3", "start": 39, "end": 44}], "disease": [{"text": "preeclampsia", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Histological abnormalities were more than 2-fold higher in the APCR group compared to the APCN group.", "output": {"entities": {"gene": [{"text": "APCN", "start": 90, "end": 94}], "disease": [{"text": "abnormalities", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "By means of the reporter gene transfection assay, hypoxia-inducible transcriptions that were mediated by [HRE] AF promoter were detected in low-and non-AFP-producing human hepatoma cells, but not in nonhepatoma cells.", "output": {"entities": {"gene": [{"text": "AFP", "start": 152, "end": 155}], "disease": [{"text": "hypoxia", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Moreover, XLN-WASP expression in lymphocytes results in modestly increased apoptosis associated with increased genomic instability.", "output": {"entities": {"gene": [{"text": "WASP", "start": 14, "end": 18}], "disease": [{"text": "genomic instability", "start": 111, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The sonic hedgehog-induced type 3 deiodinase facilitates tumorigenesis of basal cell carcinoma by reducing Gli2 inactivation.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 4, "end": 18}], "disease": [{"text": "tumorigenesis", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Three-dimensional dynamic migration imaging system and real time RT-PCR were used to quantitatively investigate the effect of macrophages on the cancer cell mobility and gene expression related to cancer invasion and metastasis, including ADAM8, ADAM9, MMP9, TIMP3, VEGF-A and IL8 genes, in AGS, HGC-27, Hs-746T and NCI-N87 gastric cancer cell lines under normal or hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 266, "end": 272}], "disease": [{"text": "hypoxic", "start": 366, "end": 373}]}, "relations": {}}, "schema": []}
{"input": "In the experiments reported here, we evaluated if: a) PARP activation is present in the retina in short-term diabetes; and b) PARP inhibitors, 3-aminobenzamide and 1, 5-isoquinolinediol, counteract diabetes-and hypoxia-induced retinal VEGF formation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 235, "end": 239}], "disease": [{"text": "hypoxia", "start": 211, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the consequences of this translocation, we cloned bcl-2 cDNAs from a pre-B cell line (Nall-1) and a t (14; 18) lymphoma cell line (SU-DHL-6) and compared these sequences with their genomic counterparts.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 63, "end": 68}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In HeLa cells, mutant TIA1 constructs caused a mild increase in stress granule abundance compared to wild type, and showed slower average fluorescence recovery in FRAP.", "output": {"entities": {"gene": [{"text": "TIA1", "start": 22, "end": 26}], "disease": [{"text": "mild", "start": 47, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We evaluated methylation at p16, p14, and human Mut L homologue (hMLH1) by methylation-specific PCR (MSP), and at cyclooxygenase 2 (COX2), O (6)-methyl-guanine methyltransferase (MGMT), estrogen receptor (ER), retinoic acid receptor beta 2 (RAR beta), and T-type calcium channel (CACNA1G) genes, and methylated in tumor 1 (MINT1), MINT2, MINT25, MINT27, and MINT31 loci by combined bisulfite restriction analysis (COBRA); mutation of K-ras, p53, p16, and p14 genes by sequencing; loss of heterozygosity of chromosome 9p; and microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MINT1", "start": 323, "end": 328}], "disease": [{"text": "microsatellite instability", "start": 525, "end": 551}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that BET inhibitors exert therapeutic effects in leukemia by evicting BRD4-NSD3-CHD8 complexes from chromatin to suppress transcription.", "output": {"entities": {"gene": [{"text": "CHD8", "start": 103, "end": 107}], "disease": [{"text": "leukemia", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that PHA-blasts may preferentially support the replication of the CXCR4-tropic and dual tropic HIV-1s, and that CXCR4-tropic and dual tropic HIV-1s are also present in peripheral blood from patients in the late stage of the asymptomatic phase.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 88, "end": 93}], "disease": [{"text": "asymptomatic", "start": 246, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "In a lung metastasis model, LPH (CD47) efficiently inhibited lung metastasis to about 27% of the untreated control.", "output": {"entities": {"gene": [{"text": "LPH", "start": 28, "end": 31}], "disease": [{"text": "lung metastasis", "start": 5, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "A large volume of data was presented relating to the relative expression of bcl-2 breakpoints by either genomic hybridization or hybridization following DNA amplification, the expression of the bcl-2 protein or the defined cytogenetic presence of the translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 76, "end": 81}], "disease": [{"text": "translocation", "start": 251, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "This finding suggests that FTO is involved in the mechanism underlying the association between mood disorders and obesity.", "output": {"entities": {"gene": [{"text": "FTO", "start": 27, "end": 30}], "disease": [{"text": "mood disorders", "start": 95, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FTO", "start": 27, "end": 30}, "tail": {"text": "mood disorders", "start": 95, "end": 109}}]}}, "schema": []}
{"input": "Interestingly, we found that Set7 expression significantly correlated with oxidative marker 8-isoprostaglandin F2α (r = 0. 38; P = 0. 01) and flow-mediated dilation (r =-0. 34; P = 0. 04).", "output": {"entities": {"gene": [{"text": "Set7", "start": 29, "end": 33}], "disease": [{"text": "dilation", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "These findings implicate HIF-1 in the activation of VEGF transcription in hypoxic cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 52, "end": 56}], "disease": [{"text": "hypoxic", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In order to assess the genetic defects in NFLE, we performed a mutation screening in 33 unrelated patients with sporadic NFLE by amplifying and sequencing bidirectionally TM 1-3 of CHRNA4, CHRNB2 and CHRNA2 which contain the mutations reported in ADNFLE.", "output": {"entities": {"gene": [{"text": "CHRNB2", "start": 189, "end": 195}], "disease": [{"text": "sporadic", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of miR-22 induced apoptosis and inflammation in HUVECs.", "output": {"entities": {"gene": [{"text": "miR-22", "start": 18, "end": 24}], "disease": [{"text": "inflammation", "start": 47, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-22", "start": 18, "end": 24}, "tail": {"text": "inflammation", "start": 47, "end": 59}}]}}, "schema": []}
{"input": "We assessed cells obtained by BAL in subjects with mild atopic asthma and in normal control subjects for the expression of messenger RNA (mRNA) for interleukin-2, 3, 4, and 5, granulocyte-macrophage colony-stimulating factor (GM-CSF), and interferon gamma by in situ hybridization with 32P-labeled complementary RNA.", "output": {"entities": {"gene": [{"text": "interferon gamma", "start": 239, "end": 255}], "disease": [{"text": "mild", "start": 51, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate altered expressions of the PDE4A and PDE4B proteins in the brains of subjects with autism and might provide new therapeutic avenues for the treatment of this debilitating disorder.", "output": {"entities": {"gene": [{"text": "PDE4B", "start": 61, "end": 66}], "disease": [{"text": "autism", "start": 107, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE4B", "start": 61, "end": 66}, "tail": {"text": "autism", "start": 107, "end": 113}}]}}, "schema": []}
{"input": "Collectively, ADM is a new target of oncogenic KRAS in the setting of hypoxia.", "output": {"entities": {"gene": [{"text": "ADM", "start": 14, "end": 17}], "disease": [{"text": "hypoxia", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Low molecular weight protein tyrosine phosphatase (LMW-PTP) is a polymorphic protein with two major isoforms whose role in tumorigenesis is currently controversial.", "output": {"entities": {"gene": [{"text": "LMW-PTP", "start": 51, "end": 58}], "disease": [{"text": "tumorigenesis", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.", "output": {"entities": {"gene": [{"text": "PNLIP", "start": 42, "end": 47}], "disease": [{"text": "pancreatic lipase deficiency", "start": 85, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PNLIP", "start": 42, "end": 47}, "tail": {"text": "pancreatic lipase deficiency", "start": 85, "end": 113}}]}}, "schema": []}
{"input": "Furthermore, the adenovirus driven expression of MITF is sufficient to increase MET in melanoma cells.", "output": {"entities": {"gene": [{"text": "MITF", "start": 49, "end": 53}], "disease": [{"text": "adenovirus", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "RET/PCM-1", "start": 0, "end": 9}], "disease": [{"text": "papillary thyroid carcinoma", "start": 34, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET/PCM-1", "start": 0, "end": 9}, "tail": {"text": "papillary thyroid carcinoma", "start": 34, "end": 61}}]}}, "schema": []}
{"input": "The aim of this study was to examine the association between haplotypes of CRP, IL6 and FGB genes, systemic inflammation, COPD risk and COPD-related phenotypes (respiratory impairment, exercise capacity and body composition).", "output": {"entities": {"gene": [{"text": "IL6", "start": 80, "end": 83}], "disease": [{"text": "respiratory impairment", "start": 161, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Neither the DST nor TRH test was found to distinguish significantly among the four familial subgroups of depression.", "output": {"entities": {"gene": [{"text": "TRH", "start": 20, "end": 23}], "disease": [{"text": "depression", "start": 105, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 20, "end": 23}, "tail": {"text": "depression", "start": 105, "end": 115}}]}}, "schema": []}
{"input": "These findings show that testing for BAGE, GAGE-1/2, MAGE-1, and MAGE-3 transcriptional activity in ascites specimens results in high sensitivity in diagnosing malignant ascites.", "output": {"entities": {"gene": [{"text": "MAGE-3", "start": 65, "end": 71}], "disease": [{"text": "ascites", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "P48 overexpression in GBM cells facilitated tumorigenesis and enhanced tumor growth in mouse xenograft models.", "output": {"entities": {"gene": [{"text": "P48", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Homozygous mutations in the gene encoding the pituitary transcription factor PROP1 are associated with combined pituitary hormone deficiency (CPHD) in both mice and humans with a highly variable phenotype with respect to the severity and time of initiation of pituitary hormone deficiency.", "output": {"entities": {"gene": [{"text": "PROP1", "start": 77, "end": 82}], "disease": [{"text": "pituitary hormone deficiency", "start": 112, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Thus, our findings link duplications in TPSAB1 with irritable bowel syndrome, cutaneous complaints, connective tissue abnormalities, and dysautonomia.", "output": {"entities": {"gene": [{"text": "TPSAB1", "start": 40, "end": 46}], "disease": [{"text": "dysautonomia", "start": 137, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TPSAB1", "start": 40, "end": 46}, "tail": {"text": "dysautonomia", "start": 137, "end": 149}}]}}, "schema": []}
{"input": "By demonstrating a role for the endogenous cannabinoid system in regulating seizure activity, these studies define a role for the endogenous cannabinoid system in modulating neuroexcitation and suggest that plasticity of the CB1 receptor occurs with epilepsy.", "output": {"entities": {"gene": [{"text": "CB1", "start": 225, "end": 228}], "disease": [{"text": "seizure", "start": 76, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB1", "start": 225, "end": 228}, "tail": {"text": "seizure", "start": 76, "end": 83}}]}}, "schema": []}
{"input": "Taken together, this study provides new evidence on promotive effects of the HE4 on gastric cancer progression and indicates that HE4 might be a promising prognostic factor for gastric cancer diagnosis.", "output": {"entities": {"gene": [{"text": "HE4", "start": 77, "end": 80}], "disease": [{"text": "gastric cancer", "start": 84, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "A novel deletion covering exon 30 and portions of flanking introns of the CACNA1F gene was identified in patients with AIED.", "output": {"entities": {"gene": [{"text": "CACNA1F", "start": 74, "end": 81}], "disease": [{"text": "AIED", "start": 119, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1F", "start": 74, "end": 81}, "tail": {"text": "AIED", "start": 119, "end": 123}}]}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) is a hypoxia-inducible angiogenic factor, which is known to be upregulated in most cases of glioblastoma multiforme (GBM).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the effect of SST on the activity of IMMC in MODS.", "output": {"entities": {"gene": [{"text": "SST", "start": 55, "end": 58}], "disease": [{"text": "MODS", "start": 86, "end": 90}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SST", "start": 55, "end": 58}, "tail": {"text": "MODS", "start": 86, "end": 90}}]}}, "schema": []}
{"input": "We have used established image averaging methods to identify and study the axial distribution of MyBP-C on the thick filament by averaging profile plots of the A-band of the sarcomere from electron micrographs of human cardiac and skeletal myopathy specimens.", "output": {"entities": {"gene": [{"text": "MyBP-C", "start": 97, "end": 103}], "disease": [{"text": "skeletal myopathy", "start": 231, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Synthesis and secretion of insulin-like growth factor II by a leiomyosarcoma with associated hypoglycemia.", "output": {"entities": {"gene": [{"text": "insulin-like growth factor II", "start": 27, "end": 56}], "disease": [{"text": "hypoglycemia", "start": 93, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "insulin-like growth factor II", "start": 27, "end": 56}, "tail": {"text": "hypoglycemia", "start": 93, "end": 105}}]}}, "schema": []}
{"input": "This indicates that LKB1 gene may relate to the tumorigenesis of breast cancer.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 20, "end": 24}], "disease": [{"text": "tumorigenesis", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The treatment of PCa cells with CDF, a novel Curcumin-derived synthetic analogue previously showed anti-tumor activity in vivo, inhibited the productions of VEGF and IL-6, and down-regulated the expression of Nanog, Oct4, EZH2 mRNAs, as well as miR-21 under hypoxic condition.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 157, "end": 161}], "disease": [{"text": "hypoxic", "start": 258, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Mice deficient in the inflammasome components ASC, caspase-1, NLRC4, and NLRP3, were dramatically more susceptible to lung infection with B. pseudomallei than WT mice.", "output": {"entities": {"gene": [{"text": "NLRC4", "start": 62, "end": 67}], "disease": [{"text": "lung infection", "start": 118, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "To characterize such cells before clinical applications, we studied a human glioma cell line (D54 MG) and early passage human glioma (Ed147. BT, Ed149. BT) and melanoma (Ed141. MEL) cultures after immunostimulatory gene transfer.", "output": {"entities": {"gene": [{"text": "D54", "start": 94, "end": 97}], "disease": [{"text": "melanoma", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.", "output": {"entities": {"gene": [{"text": "CCDC151", "start": 0, "end": 7}], "disease": [{"text": "primary ciliary dyskinesia", "start": 24, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC151", "start": 0, "end": 7}, "tail": {"text": "primary ciliary dyskinesia", "start": 24, "end": 50}}]}}, "schema": []}
{"input": "Methylation of 06-methylguanine-DNA methyltransferase was identified in A172, U251, and BT325 glioma cell lines, but not in the U87 cell line.", "output": {"entities": {"gene": [{"text": "U87", "start": 128, "end": 131}], "disease": [{"text": "glioma", "start": 94, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "No statistically significant differences in the genotype and allele frequency of IL4 and IL10 gene polymorphisms between symptomatic and asymptomatic patients were observed.", "output": {"entities": {"gene": [{"text": "IL10 gene", "start": 89, "end": 98}], "disease": [{"text": "asymptomatic", "start": 137, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Interaction of the cholesteryl ester transfer protein I405V polymorphism with alcohol consumption in smoking and non-smoking healthy men, and the effect on plasma HDL cholesterol and apoAI concentration.", "output": {"entities": {"gene": [{"text": "cholesteryl ester transfer protein", "start": 19, "end": 53}], "disease": [{"text": "alcohol consumption", "start": 78, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The kainate-induced elevation in this ADAMTS-cleaved fragment was localized to amygdaloid and thalamic nuclei, hippocampus, caudate-putamen, cingulate cortex, and the outer molecular layer of the dentate gyrus where it was accompanied by a robust elevation in ADAMTS1 and 4 mRNA and a 28% decline in synaptic density 5 days after kainate. Thus, complexes of extracellular matrix proteins that exist in perineuronal nets and in the neuropil are cleaved by specific matrix-degrading proteases at early time points during excitotoxic neurodegeneration.", "output": {"entities": {"gene": [{"text": "ADAMTS1", "start": 260, "end": 267}], "disease": [{"text": "neurodegeneration", "start": 531, "end": 548}]}, "relations": {}}, "schema": []}
{"input": "We have evaluated the microcirculation in vivo through nailfold videocapillaroscopy, before and after acute nasal estradiol administration at baseline and after increased sheer stress (postocclusive reactive hyperemia response) in 100 postmenopausal women, being 70 controls (healthy) and 30 simultaneously hypertensive and diabetic (HD), correlating their responses to PvuII and XbaI ESR1 polymorphisms and to VNTR, T-786C and G894T NOS3 variants.", "output": {"entities": {"gene": [{"text": "ESR1", "start": 385, "end": 389}], "disease": [{"text": "reactive hyperemia", "start": 199, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "In women, compared to the most common allele, the GpIIIa Pl allele was associated with increased mean arterial pressure (MAP) (P < 0. 05) and pulse pressure (PP) (P < 0. 001), and the LPL 447Ter allele was associated with decreased systolic blood pressure (SBP) and PP levels (0. 001 < or = P < or = 0. 05).", "output": {"entities": {"gene": [{"text": "GpIIIa", "start": 50, "end": 56}], "disease": [{"text": "systolic blood pressure", "start": 232, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Lung pathological analysis revealed that TNF/LT deficiency reduced CAP exposure-induced pulmonary inflammation.", "output": {"entities": {"gene": [{"text": "TNF", "start": 41, "end": 44}], "disease": [{"text": "pulmonary inflammation", "start": 88, "end": 110}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TNF", "start": 41, "end": 44}, "tail": {"text": "pulmonary inflammation", "start": 88, "end": 110}}]}}, "schema": []}
{"input": "These results indicate that a membrane-bound Vpu is not required for the CD4 (+) T cell loss and neurological disease in SHIV-inoculated pig-tailed macaques.", "output": {"entities": {"gene": [{"text": "CD4", "start": 73, "end": 76}], "disease": [{"text": "neurological disease", "start": 97, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "ALS2", "start": 30, "end": 34}], "disease": [{"text": "juvenile amyotrophic lateral sclerosis", "start": 73, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALS2", "start": 30, "end": 34}, "tail": {"text": "juvenile amyotrophic lateral sclerosis", "start": 73, "end": 111}}]}}, "schema": []}
{"input": "Lower methylation levels of POMC CpG sites + 136bp and + 138bp were associated with success in weight-loss maintenance (odds ratio = 0. 042 [95% CI 0. 01-0. 57]; p = 0. 018), whereas lower total methylation levels in NPY promoter were associated with higher risk of weight regain (odds ratio = 14. 0 [95% CI 1. 13-172]; p = 0. 039).", "output": {"entities": {"gene": [{"text": "NPY", "start": 217, "end": 220}], "disease": [{"text": "weight", "start": 95, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Mesenchymal stem cells (MSCs) transfected by integrin-linked kinase (ILK) transplantation may improve the function and compliance of the post-infarct cardiac ventricle.", "output": {"entities": {"gene": [{"text": "ILK", "start": 69, "end": 72}], "disease": [{"text": "infarct", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Estrogen receptor-alpha gene haplotype is associated with primary knee osteoarthritis in Korean population.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 18, "end": 28}], "disease": [{"text": "knee osteoarthritis", "start": 66, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Haem oxygenase-1 (HO-1) acts in cytoprotection against oxidants, provides anti-inflammatory effects, and inhibits atherogenesis.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 18, "end": 22}], "disease": [{"text": "atherogenesis", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Common SNPs in ADIPOR2 are associated with LFT in T2DM subjects, which suggests a possible role of this receptor in liver dysfunction associated with insulin resistance.", "output": {"entities": {"gene": [{"text": "ADIPOR2", "start": 15, "end": 22}], "disease": [{"text": "liver dysfunction", "start": 116, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Leptin primarily regulates food intake and body weight via leptin receptor b (LepRb).", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 59, "end": 74}], "disease": [{"text": "body weight", "start": 43, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We found that Hdac6-deficient mice exhibit hyperactivity, less anxiety, and antidepressant-like behavior in behavioral tests.", "output": {"entities": {"gene": [{"text": "Hdac6", "start": 14, "end": 19}], "disease": [{"text": "anxiety", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the immunohistochemical expression of IMP3 in five normal pituitary tissues and 75 pituitary tumors (64 adenomas and 11 carcinomas) to determine if specific tumor types expressed IMP3 and if there were differences in IMP3 expression between adenomas and carcinomas.", "output": {"entities": {"gene": [{"text": "IMP3", "start": 50, "end": 54}], "disease": [{"text": "pituitary tumors", "start": 95, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "After cloning of ATP7B, the spectrum of mutations and their clinical consequences have been investigated in patients with WD in different ethnic populations.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 17, "end": 22}], "disease": [{"text": "WD", "start": 122, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 17, "end": 22}, "tail": {"text": "WD", "start": 122, "end": 124}}]}}, "schema": []}
{"input": "Post-stroke depression (PSD) is a mental illness characterized by subjective feelings of depression, cognitive dysfunction, and decreased interest.", "output": {"entities": {"gene": [{"text": "PSD", "start": 24, "end": 27}], "disease": [{"text": "cognitive dysfunction", "start": 101, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Study of families with focal epilepsy that were too small for conventional clinical diagnosis with FFEVF identified DEPDC5 mutations in approximately 12% of families (10/82).", "output": {"entities": {"gene": [{"text": "DEPDC5", "start": 116, "end": 122}], "disease": [{"text": "FFEVF", "start": 99, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DEPDC5", "start": 116, "end": 122}, "tail": {"text": "FFEVF", "start": 99, "end": 104}}]}}, "schema": []}
{"input": "In Patient 1 (a boy, age 1. 9 years), with delayed psychomotor development, epilepsy, deficits of body mass and height, cryptorchidism, low insulin-like growth factor (IGF-1) levels were found and magnetic resonance imaging (MRI) revealed hypoplasia of midline structures of the central nervous system (CNS).", "output": {"entities": {"gene": [{"text": "MRI", "start": 225, "end": 228}], "disease": [{"text": "height", "start": 112, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Little is known about GDF-15 as a biomarker in patients with heart failure.", "output": {"entities": {"gene": [{"text": "GDF-15", "start": 22, "end": 28}], "disease": [{"text": "heart failure", "start": 61, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GDF-15", "start": 22, "end": 28}, "tail": {"text": "heart failure", "start": 61, "end": 74}}]}}, "schema": []}
{"input": "We scanned the GYS1 gene for mutation by single strand conformational polymorphism in 244 non-obese Japanese NIDDM patients and 181 non-diabetic control subjects, and found two missense mutations; Met to Val at position 416 in the exon 10 (M416V) and Pro to Ala at position 442 in the exon 11 (P442A).", "output": {"entities": {"gene": [{"text": "GYS1", "start": 15, "end": 19}], "disease": [{"text": "obese", "start": 94, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.", "output": {"entities": {"gene": [{"text": "FKBP14", "start": 13, "end": 19}], "disease": [{"text": "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss", "start": 39, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FKBP14", "start": 13, "end": 19}, "tail": {"text": "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss", "start": 39, "end": 121}}]}}, "schema": []}
{"input": "Drusenlike deposits were more selectively observed in carriers with mutations in the AIPL1, CRB1, RPE65, and RPGRIP1 genes, whereas mild peripheral chorioretinal atrophy was only observed in AIPL1 and RPE65 carriers.", "output": {"entities": {"gene": [{"text": "CRB1", "start": 92, "end": 96}], "disease": [{"text": "mild", "start": 132, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "This study was undertaken (1) to investigate the gene and protein expression of cyclooxygenase-2 (COX-2), peroxisome proliferator-activated receptor-gamma (PPARgamma), interleukin-8 (IL-8), hepatocyte growth factor (HGF), gastrin, and its receptor (CCK-2) in the Barrett' s epithelium; (2) to analyze the activity of NFkappaB in Barrett' s esophagus with low-grade dysplasia; and (3) to assess the effects of PPARgamma ligand (ciglitazone) and gastrin on cell proliferation in the cell line derived from esophageal adenocarcinoma (OE-33).", "output": {"entities": {"gene": [{"text": "interleukin-8", "start": 168, "end": 181}], "disease": [{"text": "Barrett' s epithelium", "start": 263, "end": 284}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-8", "start": 168, "end": 181}, "tail": {"text": "Barrett' s epithelium", "start": 263, "end": 284}}]}}, "schema": []}
{"input": "We find that pregnant females lacking Becn1 in the ovarian granulosa cell population have a defect in progesterone production and a subsequent preterm labor phenotype.", "output": {"entities": {"gene": [{"text": "Becn1", "start": 38, "end": 43}], "disease": [{"text": "preterm labor", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The homozygous variant was highly associated with early-onset MMD (age at onset < 5 years), cerebral infarction at diagnosis, and cognitive impairment in long-term outcome.", "output": {"entities": {"gene": [{"text": "MMD", "start": 62, "end": 65}], "disease": [{"text": "cerebral infarction", "start": 92, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Dufaston therapy of glandular cystic hyperplasia and zoladex therapy of adenomatous hyperplasia normalized expression of Fas receptor, PCNA, and insulin-like growth factor 1 genes, while the expression of IFN-gamma and IL-6 genes, which was normal in hyperplasia, decreased (p < 0. 05).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 135, "end": 139}], "disease": [{"text": "hyperplasia", "start": 37, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that prominent mitochondrial proliferation occurs in Cramping mice, a model of hereditary neuropathy caused by a mutation in the dynein heavy chain gene Dync1h1.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 150, "end": 161}], "disease": [{"text": "neuropathy", "start": 104, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We show here that a variant t (2; 18) (p11; q21) translocation observed in a case of follicular lymphoma leads to the juxtaposition of a J kappa segment to a chromosome 18 transcriptional unit located 10 kpb upstream of the BCL-2 locus.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 224, "end": 229}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families.", "output": {"entities": {"gene": [{"text": "MEFV", "start": 65, "end": 69}], "disease": [{"text": "FMF", "start": 157, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEFV", "start": 65, "end": 69}, "tail": {"text": "FMF", "start": 157, "end": 160}}]}}, "schema": []}
{"input": "The molecular mechanism resulting in the duplication or deletion of a 1. 5 Mb region of 17p11. 2-p12, associated, respectively, with Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), has been proposed to be an unequal crossing-over during meiosis between the two chromosome 17 homologues generated by misalignment of the proximal and distal CMT1A-REP repeats, two homologous sequences flanking the 1. 5 Mb CMT1A/HNPP monomer unit.", "output": {"entities": {"gene": [{"text": "p12", "start": 97, "end": 100}], "disease": [{"text": "hereditary neuropathy with liability to pressure palsies", "start": 173, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the ATP13A2 lead to Kufor Rakeb disease, a form of autosomal recessive juvenile parkinsonism that also features oromandibular dystonia.", "output": {"entities": {"gene": [{"text": "ATP13A2", "start": 17, "end": 24}], "disease": [{"text": "oromandibular dystonia", "start": 125, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The prolyl isomerase Pin1 interacts with and downregulates the activity of AMPK leading to induction of tumorigenicity of hepatocarcinoma cells.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 21, "end": 25}], "disease": [{"text": "hepatocarcinoma", "start": 122, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "In a prion model of chronic neurodegeneration and inflammation, CX3CL1 immunoreactivity is upregulated in astrocytes and CX3CR1 expression is elevated on microglia.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 121, "end": 127}], "disease": [{"text": "neurodegeneration", "start": 28, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in other genes were found to be associated only with seminoma (IL2) or nonseminoma (IFNGR2 and IL10).", "output": {"entities": {"gene": [{"text": "IL2", "start": 77, "end": 80}], "disease": [{"text": "seminoma", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "This suggests that because of the translocation, the normal function of the AF9Q34 gene is aborted.", "output": {"entities": {"gene": [{"text": "AF9Q34", "start": 76, "end": 82}], "disease": [{"text": "translocation", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we demonstrated that the mRNA level of chemerin receptor is higher in a granulosa cell tumor cell line than in epithelial cancer cells, whereas chemerin expression and secretion were lower.", "output": {"entities": {"gene": [{"text": "chemerin receptor", "start": 61, "end": 78}], "disease": [{"text": "granulosa cell tumor", "start": 94, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "chemerin receptor", "start": 61, "end": 78}, "tail": {"text": "granulosa cell tumor", "start": 94, "end": 114}}]}}, "schema": []}
{"input": "Glutathione S-transferase M1 polymorphism and sporadic colorectal cancer risk: An updating meta-analysis and HuGE review of 36 case-control studies.", "output": {"entities": {"gene": [{"text": "Glutathione S-transferase M1", "start": 0, "end": 28}], "disease": [{"text": "sporadic", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Moreover, HMGB3 expression was upregulated in bladder cancer tissues and showed inverse correlation with miR-532-5p expression.", "output": {"entities": {"gene": [{"text": "HMGB3", "start": 10, "end": 15}], "disease": [{"text": "bladder cancer", "start": 46, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGB3", "start": 10, "end": 15}, "tail": {"text": "bladder cancer", "start": 46, "end": 60}}]}}, "schema": []}
{"input": "SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.", "output": {"entities": {"gene": [{"text": "SPRED1", "start": 0, "end": 6}], "disease": [{"text": "Legius syndrome", "start": 18, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPRED1", "start": 0, "end": 6}, "tail": {"text": "Legius syndrome", "start": 18, "end": 33}}]}}, "schema": []}
{"input": "We also found that mutations in the hMSH3 gene were significantly associated with decreased wall invasiveness and aneuploidy, and frameshifts in the BLM gene were significantly associated with the mucinous histotype.", "output": {"entities": {"gene": [{"text": "BLM gene", "start": 149, "end": 157}], "disease": [{"text": "aneuploidy", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We thus propose that MUTYH suppresses tumorigenesis under conditions of oxidative stress by inducing cell death and by suppressing mutagenesis.", "output": {"entities": {"gene": [{"text": "MUTYH", "start": 21, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We assessed the expression of apoptosis genes (GSK3-B, AKT-1, Bcl-2), inflammatory cytokines (TNFalpha, TNF-RI, TNF-RII, IL-6, IL-6R), anti-inflammatory IL-10, CRP and alphaFP by reverse transcription-polymerase chain reaction (RT-PCR) in 33 HCC, 25 chronic hepatitis and 16 asymptomatic HCV carrier positive for HCV subjects.", "output": {"entities": {"gene": [{"text": "AKT", "start": 55, "end": 58}], "disease": [{"text": "chronic hepatitis", "start": 250, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the differential expression of miRNAs and the posttranscriptional regulation of glial-derived neurotrophic factor (GDNF) by endogenous miRNA in congenital intestinal atresia.", "output": {"entities": {"gene": [{"text": "GDNF", "start": 146, "end": 150}], "disease": [{"text": "congenital intestinal atresia", "start": 175, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Gastric PDX-1 expression in pancreatic metaplasia and endocrine cell hyperplasia in atrophic corpus gastritis.", "output": {"entities": {"gene": [{"text": "PDX-1", "start": 8, "end": 13}], "disease": [{"text": "atrophic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We conclude that ENTPD1 is a vascular protective factor in diabetic nephropathy that modulates glomerular inflammation and thromboregulation.", "output": {"entities": {"gene": [{"text": "ENTPD1", "start": 17, "end": 23}], "disease": [{"text": "inflammation", "start": 106, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "This recessive ataxia is associated with an elevation in alpha-fetoprotein as in ataxia-telangiectasia.", "output": {"entities": {"gene": [{"text": "alpha-fetoprotein", "start": 57, "end": 74}], "disease": [{"text": "telangiectasia", "start": 88, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Three individuals with loss-of-function mutations of peroxisome proliferator-activated receptor gamma developed early hypertension.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor gamma", "start": 53, "end": 101}], "disease": [{"text": "hypertension", "start": 118, "end": 130}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "peroxisome proliferator-activated receptor gamma", "start": 53, "end": 101}, "tail": {"text": "hypertension", "start": 118, "end": 130}}]}}, "schema": []}
{"input": "Age, GGT levels, viral load, steatosis, fibrosis and HOMA-IR were significantly associated with RVR in univariate analysis.", "output": {"entities": {"gene": [{"text": "GGT", "start": 5, "end": 8}], "disease": [{"text": "viral load", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The SEMA5A regulatory network includes previous autism candidate genes and regions, including MACROD2, A2BP1, MCPH1, MAST4, CDH8, CADM1, FOXP1, AUTS2, MBD5, 7q21, 20p, USH2A, KIRREL3, DBF4B and RELN, among others.", "output": {"entities": {"gene": [{"text": "DBF4B", "start": 184, "end": 189}], "disease": [{"text": "autism", "start": 48, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Using polymerase chain reaction-based techniques we identified a missense mutation in exon 7 on the paternal allele and a frameshift mutation in exon 13 on the maternal allele of the protoporphyrinogen oxidase gene that harbours the mutations underlying VP.", "output": {"entities": {"gene": [{"text": "protoporphyrinogen oxidase", "start": 183, "end": 209}], "disease": [{"text": "VP", "start": 254, "end": 256}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "protoporphyrinogen oxidase", "start": 183, "end": 209}, "tail": {"text": "VP", "start": 254, "end": 256}}]}}, "schema": []}
{"input": "H & E and Masson staining were used to evaluate inflammatory infiltration and myocardial fibrosis, and immunohistochemistry was used to measure the levels of IL-1, IL-6 and IL-17.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 173, "end": 178}], "disease": [{"text": "myocardial fibrosis", "start": 78, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We undertook the current study to determine if the decreased renal disease in MRL/lpr Bf-/-mice was due to the lack of AP activation or the H-2b haplotype by studying the effects of factor D (Df) deficiency, a critical protein for AP activation, on disease development in MRL/lpr mice.", "output": {"entities": {"gene": [{"text": "factor D", "start": 182, "end": 190}], "disease": [{"text": "renal disease", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation.", "output": {"entities": {"gene": [{"text": "IGLL1", "start": 58, "end": 63}], "disease": [{"text": "agammaglobulinemia", "start": 20, "end": 38}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGLL1", "start": 58, "end": 63}, "tail": {"text": "agammaglobulinemia", "start": 20, "end": 38}}]}}, "schema": []}
{"input": "Quantitative real-time PCR and a Western blot were performed to determine the regulation of miRNA and GDNF in patients with congenital intestinal atresia.", "output": {"entities": {"gene": [{"text": "GDNF", "start": 102, "end": 106}], "disease": [{"text": "congenital intestinal atresia", "start": 124, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Cycling hypoxia increases U87 glioma cell radioresistance via ROS induced higher and long-term HIF-1 signal transduction activity.", "output": {"entities": {"gene": [{"text": "U87", "start": 26, "end": 29}], "disease": [{"text": "glioma", "start": 30, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Here we provide multiple lines of evidence establishing PHF8 as the first mono-methyl histone H4 lysine 20 (H4K20me1) demethylase, with additional activities towards histone H3K9me1 and me2.", "output": {"entities": {"gene": [{"text": "me2", "start": 186, "end": 189}], "disease": [{"text": "mono", "start": 74, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function.", "output": {"entities": {"gene": [{"text": "PTPN11", "start": 69, "end": 75}], "disease": [{"text": "JMML", "start": 92, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTPN11", "start": 69, "end": 75}, "tail": {"text": "JMML", "start": 92, "end": 96}}]}}, "schema": []}
{"input": "Analysis of the clinical features on the control subjects demonstrated no correlations between these TLR4 polymorphisms and sex, age, body mass index, etc.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 101, "end": 105}], "disease": [{"text": "body mass index", "start": 134, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "VEGF transcription can be induced by hypoxia through activation of the PI3 kinase pathway and hypoxia-inducible factor alpha.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "In recurrent disease, the absence of microsatellite instability (the standard marker for MMR deficiency) suggests a lack of involvement of MMR in the resistant phenotype of recurrent disease.", "output": {"entities": {"gene": [{"text": "MMR", "start": 89, "end": 92}], "disease": [{"text": "microsatellite instability", "start": 37, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "When cell lines and clinical samples were studied together, we found that each chromosomal abnormality (TEL/AML1, BCR/ABL, or MLL abnormalities) was associated with a characteristic gene expression signature that was shared by both cell lines and clinical samples.", "output": {"entities": {"gene": [{"text": "TEL", "start": 104, "end": 107}], "disease": [{"text": "chromosomal abnormality", "start": 79, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "At d 28 of protein malnutrition, plasma total lipolytic activities were significantly reduced in both depleted groups, (P < 0. 05); hepatic lipase values represented 23% of the control value and lipoprotein lipase activity was about 11% of the control value.", "output": {"entities": {"gene": [{"text": "hepatic lipase", "start": 132, "end": 146}], "disease": [{"text": "protein malnutrition", "start": 11, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we examined whether CITED2 is also involved in the resistance of cancer cells to the chemotherapeutic drug cisplatin.", "output": {"entities": {"gene": [{"text": "CITED2", "start": 42, "end": 48}], "disease": [{"text": "cancer", "start": 87, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CITED2", "start": 42, "end": 48}, "tail": {"text": "cancer", "start": 87, "end": 93}}]}}, "schema": []}
{"input": "EMSY overexpression disrupts the BRCA2/RAD51 pathway in the DNA-damage response: implications for chromosomal instability/recombination syndromes as checkpoint diseases.", "output": {"entities": {"gene": [{"text": "EMSY", "start": 0, "end": 4}], "disease": [{"text": "chromosomal instability", "start": 98, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "To assess and compare immunohistochemical expression of epidermal growth factor receptor (EGFR) with gene amplification as demonstrated by chromogenic in situ hybridisation (CISH), in colorectal adenocarcinoma.", "output": {"entities": {"gene": [{"text": "CISH", "start": 174, "end": 178}], "disease": [{"text": "colorectal adenocarcinoma", "start": 184, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Both nuclear and cytoplasmic beta-catenin expressions were demonstrated in 4 of the 27 ovarian carcinomas for which tissue samples were available for examination.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 29, "end": 41}], "disease": [{"text": "ovarian carcinomas", "start": 87, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-catenin", "start": 29, "end": 41}, "tail": {"text": "ovarian carcinomas", "start": 87, "end": 105}}]}}, "schema": []}
{"input": "To normalize the levels of this protein, PhGPx was overexpressed in MIA PaCa-2 and AsPC-1 human pancreatic cancer cells by infection with an adenovirus-PhGPx L-form construct (AdPhGPx-L-form) (0-200 MOI) or with an adenovirus-PhGPx S-form construct (AdPhGPx-S-form) (0-200 MOI), and cell growth, plating efficiency, and growth in soft agar were determined.", "output": {"entities": {"gene": [{"text": "PhGPx", "start": 41, "end": 46}], "disease": [{"text": "adenovirus", "start": 141, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "RUNX2 inhibited the androgen response partly by promoting the dissociation of AR from its target genes such as the tumor suppressor NKX3-1.", "output": {"entities": {"gene": [{"text": "NKX3-1", "start": 132, "end": 138}], "disease": [{"text": "dissociation", "start": 62, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Logistic regression analysis with multiple clinical variables indicated that the presence of A allele at the MRP2 c. 1249G & gt; A locus was an independent determinant of central nervous system ADR caused by carbamazepine.", "output": {"entities": {"gene": [{"text": "MRP2", "start": 109, "end": 113}], "disease": [{"text": "ADR", "start": 194, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MRP2", "start": 109, "end": 113}, "tail": {"text": "ADR", "start": 194, "end": 197}}]}}, "schema": []}
{"input": "These results suggest that, irrespective of body weight, visceral obesity is an independent predictor of serum RBP4 levels, and.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 111, "end": 115}], "disease": [{"text": "body weight", "start": 44, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 0, "end": 16}], "disease": [{"text": "retinal degeneration", "start": 72, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Among the earliest genetic events are translocations of the immunoglobulin heavy-chain gene locus, which leads to dysregulation of oncogenes at translocation partner regions (cyclin D1 at 11q13, FGFR3/MMSET at 4p16. 3, c-MAF at 16q23, and cyclin D3 at 6p21), and deletions of 13q14, the site of a putative tumour suppressor gene, which is an adverse prognostic indicator.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 239, "end": 248}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Because PAX2 gene mutations were detected in papillorenal syndrome, alternation of PAX2 function by PAX6 mutations may affect phenotypic manifestations of optic-nerve malformations.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 100, "end": 104}], "disease": [{"text": "optic-nerve", "start": 155, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAX6", "start": 100, "end": 104}, "tail": {"text": "optic-nerve", "start": 155, "end": 166}}]}}, "schema": []}
{"input": "These findings suggest the existence of multiple mechanisms regulating the hypoxic induction of VEGF in colon cancer.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 96, "end": 100}], "disease": [{"text": "hypoxic", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Thirty days after MSC implantation, changes at the infarct area, level of collagen deposition, and cardiac hypertrophy were assessed.", "output": {"entities": {"gene": [{"text": "MSC", "start": 18, "end": 21}], "disease": [{"text": "infarct", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Several previously unidentified disease marker genes and drug targets, such as SBNO2 (schizophrenia), SEC24C (bipolar disorder), and SRRT (major depression), were identified based on statistical and topological analyses of the PPI network.", "output": {"entities": {"gene": [{"text": "SRRT", "start": 133, "end": 137}], "disease": [{"text": "major depression", "start": 139, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRRT", "start": 133, "end": 137}, "tail": {"text": "major depression", "start": 139, "end": 155}}]}}, "schema": []}
{"input": "These results indicate that PTI-1 may be a member of a class of oncogenes that could affect protein translation and contribute to carcinoma development in human prostate and other tissues.", "output": {"entities": {"gene": [{"text": "PTI", "start": 28, "end": 31}], "disease": [{"text": "carcinoma", "start": 130, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that a single normal TSH receptor allele is sufficient for normal thyroid function, but that the compound abnormality in the proband leads to TSH resistance.", "output": {"entities": {"gene": [{"text": "TSH receptor", "start": 43, "end": 55}], "disease": [{"text": "TSH resistance", "start": 164, "end": 178}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSH receptor", "start": 43, "end": 55}, "tail": {"text": "TSH resistance", "start": 164, "end": 178}}]}}, "schema": []}
{"input": "Analyses also indicated associations of BDNF genotype with parent-rated ADHD (p = 0. 01, etap (2) = 0. 10) and teacher-rated tics (p = 0. 04; etap (2) = 0. 07).", "output": {"entities": {"gene": [{"text": "BDNF", "start": 40, "end": 44}], "disease": [{"text": "tics", "start": 125, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In this study, U87 glioma cells formed pseudopodia in vitro as cells pushed through 3 microm pores of polycarbonate membranes.", "output": {"entities": {"gene": [{"text": "U87", "start": 15, "end": 18}], "disease": [{"text": "glioma", "start": 19, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "These mAbs will be useful for studying Dsg1 function and mechanisms of blister formation in PF and for developing targeted therapies and tools to monitor disease activity.", "output": {"entities": {"gene": [{"text": "Dsg1", "start": 39, "end": 43}], "disease": [{"text": "blister", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "MDA-7/IL-24 reduced MCL-1 and BCL-XL and increased BAX levels via PERK signaling; cell-killing was mediated via the intrinsic pathway, and cell killing was primarily necrotic as judged using Annexin V/propidium iodide staining.", "output": {"entities": {"gene": [{"text": "Annexin V", "start": 191, "end": 200}], "disease": [{"text": "necrotic", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "This association was consistent across strata of sex, age, smoking, and ALDH2 genotypes.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 72, "end": 77}], "disease": [{"text": "smoking", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We performed a case-control association study between the codon 135 polymorphism in the complement component C1r gene and sporadic AD.", "output": {"entities": {"gene": [{"text": "C1r gene", "start": 109, "end": 117}], "disease": [{"text": "sporadic", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We also found loss of heterozygosity in the lung cancer, suggesting that TSSC5 may be a conventional tumor suppressor gene in the adult human lung and an imprinted tumor suppressor gene in the fetal kidney.", "output": {"entities": {"gene": [{"text": "TSSC5", "start": 73, "end": 78}], "disease": [{"text": "lung cancer", "start": 44, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSSC5", "start": 73, "end": 78}, "tail": {"text": "lung cancer", "start": 44, "end": 55}}]}}, "schema": []}
{"input": "The aim of this study is to investigate the association of IL-18 (-137G/C and-607C/A) gene promoter single nucleotide polymorphisms (SNPs) with susceptibility to tuberculosis (TB), and the effects of those SNPs to its protein producing capacity in Chinese Han population.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 59, "end": 64}], "disease": [{"text": "susceptibility to tuberculosis", "start": 144, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The combination of GSTM1-null/NAT2 rapid acetylator phenotype/smoking behavior or GSTM1-null/NAT2 rapid acetylator phenotype/diet rich in fried red meat was not found to influence the sporadic CRC risk in Romanians, but the GSTM1-null genotype, NAT2 rapid acetylator phenotype influenced the sporadic CRC risk differently depending on the gender of the patient.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 19, "end": 24}], "disease": [{"text": "sporadic", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.", "output": {"entities": {"gene": [{"text": "PCDH12", "start": 170, "end": 176}], "disease": [{"text": "alcohol dependency", "start": 277, "end": 295}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PCDH12", "start": 170, "end": 176}, "tail": {"text": "alcohol dependency", "start": 277, "end": 295}}]}}, "schema": []}
{"input": "Microarray analysis of MRI-defined tissue samples in glioblastoma reveals differences in regional expression of therapeutic targets.", "output": {"entities": {"gene": [{"text": "MRI", "start": 23, "end": 26}], "disease": [{"text": "glioblastoma", "start": 53, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Detailed genetic and physical map of the 3p chromosome region surrounding the familial renal cell carcinoma chromosome translocation, t (3; 8) (p14. 2; q24. 1).", "output": {"entities": {"gene": [{"text": "p14", "start": 144, "end": 147}], "disease": [{"text": "familial renal cell carcinoma", "start": 78, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Analysis of 19 of the inversion-negative families and a further nine families with mild or moderate haemophilia A by CMA resulted in the identification of a heterogeneous spectrum of mutations in the FVIII gene comprising 21 single base-pair substitutions and nine deletions.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 200, "end": 205}], "disease": [{"text": "haemophilia A", "start": 100, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 200, "end": 205}, "tail": {"text": "haemophilia A", "start": 100, "end": 113}}]}}, "schema": []}
{"input": "Envoplakin (EVPL) is a member of the desmosomal plaque proteins attached to desmosomal cadherin and keratin filaments.", "output": {"entities": {"gene": [{"text": "EVPL", "start": 12, "end": 16}], "disease": [{"text": "plaque", "start": 48, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The expression of SNCG, MAP2, SDF-1 and CXCR4 mRNA was also detected by RT-PCR method in 50 cases of gastric adenocarcinoma and 30 cases of nonneoplastic adjacent gastric tissue.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 18, "end": 22}], "disease": [{"text": "gastric adenocarcinoma", "start": 101, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Compared with individuals who had both GSTM1 and GSTT1 genes, a higher frequency of at least one deletion of the GSTM1 and GSTT1 genes was identified in anxious smokers [odds ratio (OR) = 2. 21, 95% confidence interval (CI) = 1. 05-4. 65, P = 0. 034], but there was no association with bipolar and unipolar depression (P = 0. 943).", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 49, "end": 54}], "disease": [{"text": "unipolar depression", "start": 298, "end": 317}]}, "relations": {}}, "schema": []}
{"input": "Our LIPC association was strongest for a functional promoter variant, rs10468017, (P = 1. 34e-08), that influences LIPC expression and serum HDL levels with a protective effect of the minor T allele (HDL increasing) for advanced wet and dry AMD.", "output": {"entities": {"gene": [{"text": "LIPC", "start": 4, "end": 8}], "disease": [{"text": "dry", "start": 237, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "It is characterized by severe circulating monocytopenia, NK-and B-lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to myelodysplasia/acute myelogenous leukemia.", "output": {"entities": {"gene": [{"text": "MAC", "start": 124, "end": 127}], "disease": [{"text": "infections", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced \" premature asthma. \"", "output": {"entities": {"gene": [{"text": "HPA", "start": 208, "end": 211}], "disease": [{"text": "asthma", "start": 127, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Infantile and juvenile forms of Alexander disease are well characterized and are caused by de novo mutations in the glial fibrillary acid protein (GFAP) gene.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 147, "end": 151}], "disease": [{"text": "Alexander disease", "start": 32, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 147, "end": 151}, "tail": {"text": "Alexander disease", "start": 32, "end": 49}}]}}, "schema": []}
{"input": "Knockout of MTA1 in mice disrupts the free-running period of circadian rhythms under constant light and normal entrainment of behaviour to 12-h-light/12-h-dark cycles.", "output": {"entities": {"gene": [{"text": "MTA1", "start": 12, "end": 16}], "disease": [{"text": "circadian rhythms", "start": 61, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "No association of a 7/9 signal sequence and the heterogeneity of the breakpoints within the bcl-2 and IgL loci suggest that the translocations occurring at the 5'-flanking region of the bcl-2 gene might be mediated by a different mechanism from that of the t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 186, "end": 196}], "disease": [{"text": "translocation", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "We identified two novel disease-causing RDH5 mutations in Pakistani families with FA, which will improve diagnosis and genetic counseling, and may even lead to treatment of this disease in these families.", "output": {"entities": {"gene": [{"text": "RDH5", "start": 40, "end": 44}], "disease": [{"text": "FA", "start": 82, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDH5", "start": 40, "end": 44}, "tail": {"text": "FA", "start": 82, "end": 84}}]}}, "schema": []}
{"input": "Ras homolog gene family, member A (RhoA), a Rho guanosine triphosphatase (GTPase) family member, may be involved in a hypoxia-induced vascular endothelial growth factor (VEGF) pathway that regulates TNV angiogenesis through an unclear mechanism.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 170, "end": 174}], "disease": [{"text": "hypoxia", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "First, mutation of Cart1 exacerbates Alx4-dependent polydactyly in a manner that is dependent on gene dosage.", "output": {"entities": {"gene": [{"text": "Alx4", "start": 37, "end": 41}], "disease": [{"text": "polydactyly", "start": 52, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Alx4", "start": 37, "end": 41}, "tail": {"text": "polydactyly", "start": 52, "end": 63}}]}}, "schema": []}
{"input": "Sections of four tumors, and corresponding adjacent areas, from patients with achalasia due to Chagas' disease were examined by immunohistochemistry for p53 and PCNA proteins.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 161, "end": 165}], "disease": [{"text": "achalasia", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The alterations in apelin and APJ receptor concentrations with ischemic cardiomyopathy are poorly understood.", "output": {"entities": {"gene": [{"text": "apelin", "start": 19, "end": 25}], "disease": [{"text": "ischemic cardiomyopathy", "start": 63, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In this study we test the hypothesis that failure to generate collateral vessels is associated with a failure to appropriately induce with hypoxia or ischemia the angiogenic factor, vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 218, "end": 222}], "disease": [{"text": "hypoxia", "start": 139, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Epithelial to mesenchymal transition (EMT) is a secondary phenomenon concomitantly associated with the tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 38, "end": 41}], "disease": [{"text": "tumor progression", "start": 103, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "One TLS patient died of intracerebral hemorrhage on day 10 and another patient of multiorgan failure on day 17.", "output": {"entities": {"gene": [{"text": "TLS", "start": 4, "end": 7}], "disease": [{"text": "intracerebral hemorrhage", "start": 24, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "In addition, we summarize the latest data on CHD7 expression studies, animal models, and functional studies, and we discuss the latest clinical insights into CHARGE syndrome.", "output": {"entities": {"gene": [{"text": "CHD7", "start": 45, "end": 49}], "disease": [{"text": "CHARGE syndrome", "start": 158, "end": 173}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHD7", "start": 45, "end": 49}, "tail": {"text": "CHARGE syndrome", "start": 158, "end": 173}}]}}, "schema": []}
{"input": "The variants in HAGH, rs11859266 and rs3743852, showed significant associations with schizophrenia in males at allelic and genotype levels, which remained persistent after multiple testing with the exception of rs3743852 for the genotype model.", "output": {"entities": {"gene": [{"text": "HAGH", "start": 16, "end": 20}], "disease": [{"text": "schizophrenia", "start": 85, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HAGH", "start": 16, "end": 20}, "tail": {"text": "schizophrenia", "start": 85, "end": 98}}]}}, "schema": []}
{"input": "In support of the likelihood that these effects explained FKBPL-mediated cell growth inhibition and sensitivity to endocrine therapies, FKBPL expression was correlated with increased overall survival and distant metastasis-free survival in breast cancer patients.", "output": {"entities": {"gene": [{"text": "FKBPL", "start": 58, "end": 63}], "disease": [{"text": "breast cancer", "start": 240, "end": 253}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FKBPL", "start": 58, "end": 63}, "tail": {"text": "breast cancer", "start": 240, "end": 253}}]}}, "schema": []}
{"input": "After intracerebroventricular injection of these GLP-1 MSC capsules in presymptomatic SOD1 (G93A) mice, we assessed possible protective effects by survival analysis, measurement of body weight, daily monitoring and evaluation of motor performance by rotarod and footprint analyses.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 49, "end": 54}], "disease": [{"text": "body weight", "start": 181, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that in anaplastic astrocytoma biopsy samples, FAK is expressed as an unspliced variant and migrates with a faster mobility similar to that observed in embryonic brain.", "output": {"entities": {"gene": [{"text": "FAK", "start": 61, "end": 64}], "disease": [{"text": "anaplastic astrocytoma", "start": 22, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We conclude that AAV-mediated prolonged maspin expression efficiently suppresses human prostate tumor growth in vivo by apoptosis induction and inhibition of angiogenesis.", "output": {"entities": {"gene": [{"text": "AAV", "start": 17, "end": 20}], "disease": [{"text": "prostate tumor", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Moreover, GDNF increased hypoxia responsive element (HRE)-containing VEGF promoter transcriptional activity but not that of the HRE-deletion VEGF promoter construct.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 69, "end": 73}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The high-level expression and stability of cochlin in the inner ear, even in the absence and severe atrophy of the fibrocytes that normally express COCH, are shown through these studies and further elucidate the pathobiologic events occurring in DFNA9 leading to hearing loss and vestibular dysfunction.", "output": {"entities": {"gene": [{"text": "COCH", "start": 148, "end": 152}], "disease": [{"text": "atrophy", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "A new keratin 2e mutation in ichthyosis bullosa of Siemens.", "output": {"entities": {"gene": [{"text": "keratin 2e", "start": 6, "end": 16}], "disease": [{"text": "ichthyosis bullosa of Siemens", "start": 29, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 2e", "start": 6, "end": 16}, "tail": {"text": "ichthyosis bullosa of Siemens", "start": 29, "end": 58}}]}}, "schema": []}
{"input": "The mean corpuscular volume (MCV) values for males and females were 63. 7 ± 3. 7 and 63. 2 ± 3. 2 fL, respectively, while these values were 19. 3 ± 1. 6 and 19. 3 ± 1. 4 pg for mean corpuscular hemoglobin (Hb) (MCH).", "output": {"entities": {"gene": [{"text": "MCH", "start": 211, "end": 214}], "disease": [{"text": "mean corpuscular volume", "start": 4, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Twenty-five LGI1 mutations have been described in familial and sporadic lateral temporal epilepsy patients.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 12, "end": 16}], "disease": [{"text": "sporadic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We conclude that hypoxia triggers a physiologically relevant increase in VEGF-A by prostate cancer and bone marrow stromal cells which involves a paracrine loop that recruits and activates BME to support tumor neovascularization-related processes.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 73, "end": 79}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "T ([20]) repeat in the 3'-untranslated region of the MT1X gene: a marker with high sensitivity and specificity to detect microsatellite instability in colorectal cancer.", "output": {"entities": {"gene": [{"text": "MT1X gene", "start": 53, "end": 62}], "disease": [{"text": "microsatellite instability", "start": 121, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "PALB2 mutations in European familial pancreatic cancer families.", "output": {"entities": {"gene": [{"text": "PALB2", "start": 0, "end": 5}], "disease": [{"text": "familial pancreatic cancer", "start": 28, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PALB2", "start": 0, "end": 5}, "tail": {"text": "familial pancreatic cancer", "start": 28, "end": 54}}]}}, "schema": []}
{"input": "Our previous study suggested that the tumour necrosis factor-alpha gene with thymine residue at position-857 in its promoter region [TNF-alpha (-857T)] could be associated with human narcolepsy independently of a strong association of the human leucocyte antigen (HLA)-DRB1 * 1501 with the disorder.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 61, "end": 71}], "disease": [{"text": "narcolepsy", "start": 183, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Tissue microarrays with specimens from 322 women with primary ovarian carcinoma were stained with antibodies to hMLH1 and hMSH2; cases in which either hMLH1 or hMSH2 were negative were analyzed for microsatellite instability with the five-marker panel recommended by the National Cancer Institute (BAT26, BAT25, D5S346, D2S123, and D17S250).", "output": {"entities": {"gene": [{"text": "D5S346", "start": 312, "end": 318}], "disease": [{"text": "ovarian carcinoma", "start": 62, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "High DNA methyltransferase 3B expression mediates 5-aza-deoxycytidine hypersensitivity in testicular germ cell tumors.", "output": {"entities": {"gene": [{"text": "DNA methyltransferase 3B", "start": 5, "end": 29}], "disease": [{"text": "hypersensitivity", "start": 70, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "A novel CSF1-S100A10 fusion gene was found in a TSGCT that carried the translocation t (1; 1) (q21; p11) as the sole karyotypic abnormality.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 8, "end": 12}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Macrophage-derived Angptl2 contributes to AAA development by inducing inflammation and degradation of extracellular matrix in the vessel wall, suggesting that targeting the Angptl2-induced inflammatory axis in macrophages could represent a new strategy for AAA therapy.", "output": {"entities": {"gene": [{"text": "Angptl2", "start": 19, "end": 26}], "disease": [{"text": "inflammation", "start": 70, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.", "output": {"entities": {"gene": [{"text": "RPS28", "start": 114, "end": 119}], "disease": [{"text": "Diamond-Blackfan anemia", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RPS28", "start": 114, "end": 119}, "tail": {"text": "Diamond-Blackfan anemia", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "Collectively, these results show that LPA under hypoxic condition enhances cell migration through the sequential induction of HIF-1alpha and VEGF, and that this enhancement is efficiently blocked by resveratrol.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 141, "end": 145}], "disease": [{"text": "hypoxic", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "VEGF or HIF-1alpha was antagonized in human retinal pigment epithelial (RPE) cells using RNAi, and then cells were cultured under hypoxia.", "output": {"entities": {"gene": [{"text": "RPE", "start": 72, "end": 75}], "disease": [{"text": "hypoxia", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Multiple lymphomatous polyposis (MLP) is characterized by multiple polyps involving long segments of the gastrointestinal (GI) tract.", "output": {"entities": {"gene": [{"text": "MLP", "start": 33, "end": 36}], "disease": [{"text": "multiple polyps", "start": 58, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The effect of two different SNP (INSIG2: rs7566605, FTO: rs9939609) was analysed on the change of weight status in a one-year lifestyle intervention among 280 overweight children (mean age 10. 8 years, mean body mass index (BMI) 28. 1 kg/m (2)).", "output": {"entities": {"gene": [{"text": "INSIG2", "start": 33, "end": 39}], "disease": [{"text": "weight", "start": 98, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The production of IL-6 and TNF-alpha was elevated in atopic compared to nonatopic patients studied.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 27, "end": 36}], "disease": [{"text": "atopic", "start": 53, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "These studies revealed that most mutations in the alpha-galactosidase A gene causing Fabry disease were private, that codons 111-122 defined a deletion hot-spot, and that different substitutions of the same codon resulted in markedly different disease phenotypes.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 50, "end": 71}], "disease": [{"text": "Fabry disease", "start": 85, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 50, "end": 71}, "tail": {"text": "Fabry disease", "start": 85, "end": 98}}]}}, "schema": []}
{"input": "Recombinant adenovirus-mediated intestinal trefoil factor gene therapy for burn-induced intestinal mucosal injury.", "output": {"entities": {"gene": [{"text": "intestinal trefoil factor", "start": 32, "end": 57}], "disease": [{"text": "adenovirus", "start": 12, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "VPA inhibits the EMT in PCa cells via the inhibition of SMAD4 expression and the mono-ubiquitination of SMAD4.", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 56, "end": 61}], "disease": [{"text": "mono", "start": 81, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Interaction of vascular endothelial growth factor 165 with neuropilin-1 protects rheumatoid synoviocytes from apoptotic death by regulating Bcl-2 expression and Bax translocation.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 140, "end": 145}], "disease": [{"text": "translocation", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.", "output": {"entities": {"gene": [{"text": "PARD3", "start": 28, "end": 33}], "disease": [{"text": "prostate cancer", "start": 147, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARD3", "start": 28, "end": 33}, "tail": {"text": "prostate cancer", "start": 147, "end": 162}}]}}, "schema": []}
{"input": "Using human SMCs, human arterial tissue, and mouse models, we report that SMC plasticity is governed by the DNA-modifying enzyme ten-eleven translocation-2 (TET2).", "output": {"entities": {"gene": [{"text": "SMC", "start": 12, "end": 15}], "disease": [{"text": "translocation", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrate that inducible expression of c-fos in the epidermis of adult mice is sufficient to promote inflammation-mediated epidermal hyperplasia, leading to the development of preneoplastic lesions.", "output": {"entities": {"gene": [{"text": "c-fos", "start": 59, "end": 64}], "disease": [{"text": "epidermal hyperplasia", "start": 143, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.", "output": {"entities": {"gene": [{"text": "liver glycogen synthase", "start": 17, "end": 40}], "disease": [{"text": "hypoglycemia", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In this study, we report that insulin increases the expression of T-bet in breast cancer cells, which correlates with reduced expression of GATA-3, FOXA1, and the ERalpha: FOXA1: GATA-3 target gene GREB-1.", "output": {"entities": {"gene": [{"text": "T-bet", "start": 66, "end": 71}], "disease": [{"text": "breast cancer", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Hsc70 regulated NCL translocation via stabilizing NCL and enhancing its interaction with nonmuscle myosin heavy chain 9.", "output": {"entities": {"gene": [{"text": "Hsc70", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "PDLIM5, S100A10 and TNF mRNA showed also an interesting pattern of expression with regards to MDE evolution.", "output": {"entities": {"gene": [{"text": "S100A10", "start": 8, "end": 15}], "disease": [{"text": "MDE", "start": 94, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A10", "start": 8, "end": 15}, "tail": {"text": "MDE", "start": 94, "end": 97}}]}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "RAX", "start": 241, "end": 244}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAX", "start": 241, "end": 244}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "These results set ZEB1 as an effector of β-catenin/TCF4 signaling in EMT and tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 69, "end": 72}], "disease": [{"text": "tumor progression", "start": 77, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The mono-allelic loss of the IGF-I receptor (IGF1R) gene was confirmed in a child with prenatal and severe postnatal growth retardation by fluorescence in situ hybridization, and was evaluated on the protein level in fibroblasts of the patient by FACS analysis and IGF cross-linkage.", "output": {"entities": {"gene": [{"text": "IGF1R", "start": 45, "end": 50}], "disease": [{"text": "severe postnatal growth retardation", "start": 100, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The results indicated that transcription and expression levels of WWP1, Smurf1 and Smurf2 genes in prostate cancer without bone metastasis were significantly higher compared to those in benign prostate hyperplasia (P < 0. 05), whereas significantly lower than prostate cancer metastatic to bone (P < 0. 05).", "output": {"entities": {"gene": [{"text": "WWP1", "start": 66, "end": 70}], "disease": [{"text": "benign prostate hyperplasia", "start": 186, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 179, "end": 183}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously).", "output": {"entities": {"gene": [{"text": "CIAS1", "start": 99, "end": 104}], "disease": [{"text": "body weight", "start": 201, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "These findings collectively reveal a novel role for the p53 target gene SIVA both in regulating metabolism and in enabling tumorigenesis, independently of p53.", "output": {"entities": {"gene": [{"text": "SIVA", "start": 72, "end": 76}], "disease": [{"text": "tumorigenesis", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The aim of this work was to search for molecular links between xanthine oxidase-induced oxidative stress and inflammation in Type I diabetes and to assess the ability of allopurinol, a drug widely used in clinical practice, to prevent both processes.", "output": {"entities": {"gene": [{"text": "xanthine oxidase", "start": 63, "end": 79}], "disease": [{"text": "inflammation", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Heightened expression of tumor necrosis factor (TNF)-alpha and lymphotoxin-alpha (LT-alpha) was associated with pregnancy complications, including idiopathic recurrent miscarriage (RM).", "output": {"entities": {"gene": [{"text": "lymphotoxin-alpha", "start": 63, "end": 80}], "disease": [{"text": "pregnancy complications", "start": 112, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the authors investigated the clinical, histopathological, and immunohistochemical features in familial breast cancer (FBC) patients and compared them with findings in sporadic breast cancers (SBCs); hormone receptor status was stratified by age.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 221, "end": 237}], "disease": [{"text": "sporadic", "start": 189, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Additionally, we identify a mechanism used by PAX3-FOXO1 to inhibit MST1 signaling and promote tumorigenesis in aRMS.", "output": {"entities": {"gene": [{"text": "MST1", "start": 68, "end": 72}], "disease": [{"text": "tumorigenesis", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "A deficiency in HCS results in biotin-responsive multiple carboxylase deficiency (MCD).", "output": {"entities": {"gene": [{"text": "HCS", "start": 16, "end": 19}], "disease": [{"text": "multiple carboxylase deficiency", "start": 49, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HCS", "start": 16, "end": 19}, "tail": {"text": "multiple carboxylase deficiency", "start": 49, "end": 80}}]}}, "schema": []}
{"input": "For example, despite a low plasma FXI = 1 IU dl (-1), a clinically non-bleeding individual exhibited normal TG results whereas another patient with severe bleeding history and FXI = 40 IU dl (-1) had a very low TG capacity.", "output": {"entities": {"gene": [{"text": "FXI", "start": 34, "end": 37}], "disease": [{"text": "bleeding", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Protection against hypoxia-induced cell death due to TSC2 deficiency is rapamycin-resistant, suggesting that TSC2 affects an apoptotic pathway.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 53, "end": 57}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.", "output": {"entities": {"gene": [{"text": "cartilage oligomeric matrix protein", "start": 112, "end": 147}], "disease": [{"text": "pseudoachondroplasia", "start": 34, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cartilage oligomeric matrix protein", "start": 112, "end": 147}, "tail": {"text": "pseudoachondroplasia", "start": 34, "end": 54}}]}}, "schema": []}
{"input": "No dysregulation of CIDEA expression was observed in individuals with the metabolic syndrome when compared with body mass index-matched controls.", "output": {"entities": {"gene": [{"text": "CIDEA", "start": 20, "end": 25}], "disease": [{"text": "body mass index", "start": 112, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In this study we aimed to assess the frequency of PDYN gene defects and extend the phenotype of SCA23 patients in a UK ataxia series and also in patients from Greece, Egypt and India.", "output": {"entities": {"gene": [{"text": "PDYN", "start": 50, "end": 54}], "disease": [{"text": "SCA23", "start": 96, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDYN", "start": 50, "end": 54}, "tail": {"text": "SCA23", "start": 96, "end": 101}}]}}, "schema": []}
{"input": "We demonstrate the etoposide-induced accumulation of GFP-LC3 dots by fluorescent microscopy, the up-regulation of LC3-II protein expression by Western blotting and the increased number of autophagic vacuoles by electron microscopy, confirming the activation of autophagy by etoposide in HepG2 cells.", "output": {"entities": {"gene": [{"text": "LC3", "start": 57, "end": 60}], "disease": [{"text": "autophagic vacuoles", "start": 188, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 18, "end": 22}], "disease": [{"text": "cardio-facio-cutaneous syndrome", "start": 36, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRAF", "start": 18, "end": 22}, "tail": {"text": "cardio-facio-cutaneous syndrome", "start": 36, "end": 67}}]}}, "schema": []}
{"input": "Salivary adenoid cystic carcinoma (SACC) is a frequent subtype of salivary gland malignancy, and it has an important biological behavior for perineural invasion (PNI).", "output": {"entities": {"gene": [{"text": "PNI", "start": 162, "end": 165}], "disease": [{"text": "adenoid cystic carcinoma", "start": 9, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Guggulsterone significantly reduced cell viability in colon cancer cells in a dose-dependent manner and blocked VEGF, ARNT and STAT3 expression prominently in hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 112, "end": 116}], "disease": [{"text": "hypoxic", "start": 159, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The PTEN-9C > G polymorphism was not associated with MetS or its hyperglycemia, hypertension and hypertriglyceridemia components.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 4, "end": 8}], "disease": [{"text": "hypertriglyceridemia", "start": 97, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "This multiplex RT-PCR assay appears equivalent to FISH in terms of accuracy, simplicity, and turnaround time and both are superior to Southern blot and conventional cytogenetics in the laboratory monitoring of Ph1-positive leukemias.", "output": {"entities": {"gene": [{"text": "FISH", "start": 50, "end": 54}], "disease": [{"text": "leukemias", "start": 223, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Either the TNFA gene itself or a linked gene on chromosome region 6p21, which has yet to be identified, is a candidate gene for susceptibility to atopy.", "output": {"entities": {"gene": [{"text": "TNFA", "start": 11, "end": 15}], "disease": [{"text": "atopy", "start": 146, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "]), while they were associated to several dermatological (except PASI), serological and genetic parameters: psoriasis (all p < 0. 0001), palmoplantar psoriasis (wrist and hand AS p < 0. 0005 and p < 0. 005, respectively), hand psoriasis (all p < 0. 0001), nail dystrophy (hand AS p < 0. 05, PT p < 0. 0001, erosions p < 0. 0001); positive CRP (all p < 0. 0001), ESR (wrist and hand AS p < 0. 005 and < 0. 0005, respectively, TS, PT and erosions p < 0. 0001) and ACPA-even if represented only in 1. 78% of patients-(wrist and hand AS and TS p < 0. 0001, PT p < 0. 5); HLA-B27 (wrist and hand AS p < 0. 0001, TS p < 0. 01, PT p < 0. 05),-B35 (wrist and hand AS p < 0. 01 and p < 0. 05, respectively),-B38 (wrist and hand AS p < 0. 0001, TS p < 0. 0001, PT p < 0. 005),-CW6 (wrist AS p < 0. 05),-DR4 (wrist and hand AS p < 0. 0001, TS p < 0. 0001, PT p < 0. 005).", "output": {"entities": {"gene": [{"text": "CRP", "start": 339, "end": 342}], "disease": [{"text": "nail dystrophy", "start": 256, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "It has been shown that bromocriptine-induced tachycardia, which persisted after adrenalectomy, is (i) mediated by central dopamine D2 receptor activation and (ii) reduced by 5-day isoproterenol pretreatment, supporting therefore the hypothesis that this effect is dependent on sympathetic outflow to the heart.", "output": {"entities": {"gene": [{"text": "dopamine D2 receptor", "start": 122, "end": 142}], "disease": [{"text": "tachycardia", "start": 45, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dopamine D2 receptor", "start": 122, "end": 142}, "tail": {"text": "tachycardia", "start": 45, "end": 56}}]}}, "schema": []}
{"input": "Although no change in the PLC delta (1) mRNA level in ischemia was detected, SL PLC delta (1) activity and content were depressed.", "output": {"entities": {"gene": [{"text": "PLC", "start": 26, "end": 29}], "disease": [{"text": "ischemia", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Structural and functional analysis of a new desmin variant causing desmin-related myopathy.", "output": {"entities": {"gene": [{"text": "desmin", "start": 44, "end": 50}], "disease": [{"text": "desmin-related myopathy", "start": 67, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "desmin", "start": 44, "end": 50}, "tail": {"text": "desmin-related myopathy", "start": 67, "end": 90}}]}}, "schema": []}
{"input": "Electron transport complex-II and manganese superoxide dismutase (MnSOD) enzyme activities were decreased in obese-NGT and obese-GDM, compared with NW women.", "output": {"entities": {"gene": [{"text": "MnSOD", "start": 66, "end": 71}], "disease": [{"text": "GDM", "start": 129, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MnSOD", "start": 66, "end": 71}, "tail": {"text": "GDM", "start": 129, "end": 132}}]}}, "schema": []}
{"input": "Hyperhomocysteinemia-induced decrease in nephrin expression and increase in desmin expression in gp91 (+/+) mice were not observed in gp91 (-/-) mice.", "output": {"entities": {"gene": [{"text": "desmin", "start": 76, "end": 82}], "disease": [{"text": "Hyperhomocysteinemia", "start": 0, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "desmin", "start": 76, "end": 82}, "tail": {"text": "Hyperhomocysteinemia", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring, most prominently on the extensor extremities.", "output": {"entities": {"gene": [{"text": "EBP", "start": 35, "end": 38}], "disease": [{"text": "pruritus", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Real-time PCR and Western blotting were performed to detect the expression of GRP78, p-eIF2α, spliced XBP1, ATF6, ATF4 and p-IRE1α in the lenses of normal human subjects and patients with age-related, myopia-related or congenital cataracts.", "output": {"entities": {"gene": [{"text": "ATF6", "start": 108, "end": 112}], "disease": [{"text": "myopia", "start": 201, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that stably silencing CREB expression in two human metastatic melanoma cell lines, A375SM and C8161-c9, suppresses tumor growth and experimental metastasis.", "output": {"entities": {"gene": [{"text": "CREB", "start": 43, "end": 47}], "disease": [{"text": "metastatic melanoma", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Vascular maturation was detected in vivo by vasoreactivity to hypercapnia, measured by BOLD contrast MRI and validated by immunostaining of histologic sections to alpha-smooth muscle actin.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 169, "end": 188}], "disease": [{"text": "hypercapnia", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the CICR activity of 14 mutations at 10 different positions in the central region of RYR1 (10 MH and four MH/CCD mutations) using a heterologous expression system in HEK293 cells.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 116, "end": 120}], "disease": [{"text": "CCD", "start": 140, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 116, "end": 120}, "tail": {"text": "CCD", "start": 140, "end": 143}}]}}, "schema": []}
{"input": "SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.", "output": {"entities": {"gene": [{"text": "NBEA", "start": 8, "end": 12}], "disease": [{"text": "autism", "start": 51, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NBEA", "start": 8, "end": 12}, "tail": {"text": "autism", "start": 51, "end": 57}}]}}, "schema": []}
{"input": "We found two new mutations and one recently described mutation in the cathepsin K gene by sequencing DNA from eight patients with pycnodysostosis: a one base transition in exon8, c926T & gt; C, causing a single amino acid substitution leucine--& gt; proline, L309P; A 3' splice site mutation in intron 2, c121-1G & gt; A, causing deletion of all exon 3, 41V-81Mdel; and the exon 3 missense mutation c236G & gt; A leading to residue G79E.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 70, "end": 81}], "disease": [{"text": "pycnodysostosis", "start": 130, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cathepsin K", "start": 70, "end": 81}, "tail": {"text": "pycnodysostosis", "start": 130, "end": 145}}]}}, "schema": []}
{"input": "The high rate of cpb2-positivity among strains from neonatal pigs with enteritis and the high correlation of genotype with phenotype, supports the contention that beta2 toxin plays a role in the pathogenesis of these infections.", "output": {"entities": {"gene": [{"text": "beta2", "start": 163, "end": 168}], "disease": [{"text": "infections", "start": 217, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Here, we further studied hypoxic induction of HIF-1alpha, HIF-2alpha, CA IX, and VEGF in NPC cell lines, investigated hypoxia-modulated gene expression in NPC cell lines by Affymetrix GeneChip Array expression profiling, and identified pathways influenced by hypoxia and novel genes not previously recognized as hypoxia-inducible.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 81, "end": 85}], "disease": [{"text": "hypoxia", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "We focused our attention on the HLA haplotypes marked by HLA-A, HLA-B and HLA-DRB1 polymorphisms in 1206 healthy Caucasian newborns belonging to the Cord Blood Bank of Pavia (Italy) and their mothers, aiming to investigate the association between this restricted HLA region and birth weight variation.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 74, "end": 82}], "disease": [{"text": "birth weight", "start": 278, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "However, no significant correlation between B7. 1 or B7. 2 expression and regression of the tumour, TTP or OS was found.", "output": {"entities": {"gene": [{"text": "B7. 2", "start": 53, "end": 58}], "disease": [{"text": "regression", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Our findings may also implicate the whole family of HERG channels (HERG1, HERG2 and HERG3) in the pathogenesis of psychosis and its treatment.", "output": {"entities": {"gene": [{"text": "HERG2", "start": 74, "end": 79}], "disease": [{"text": "psychosis", "start": 114, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HERG2", "start": 74, "end": 79}, "tail": {"text": "psychosis", "start": 114, "end": 123}}]}}, "schema": []}
{"input": "By using an amplification-created restriction site method, the precore TAG mutant of hepatitis B virus was detected in 6 (75%) of 8 acute fulminant hepatitis B patients, 7 (58%) of 12 acute self-limiting hepatitis B patients, 35 (81%) of 43 hepatitis B virus surface antigen carriers with fulminant hepatitis, and 42 (70%) of 60 hepatitis B virus surface antigen carriers with chronic hepatitis.", "output": {"entities": {"gene": [{"text": "TAG", "start": 71, "end": 74}], "disease": [{"text": "fulminant hepatitis", "start": 138, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The results show main effects of the COMT gene variant (P =. 002), birth weight (P =. 002), and a significant gene x environment (COMT x birth weight) interaction (P =. 006).", "output": {"entities": {"gene": [{"text": "COMT", "start": 37, "end": 41}], "disease": [{"text": "birth weight", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Mice harboring the \" white spotting \" (W) locus have abnormalities in hematopoiesis due to one of various mutations of the c-kit proto-oncogene, which encodes the stem cell factor (SCF) receptor.", "output": {"entities": {"gene": [{"text": "SCF", "start": 181, "end": 184}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In addition, EYA4 methylation may be identified in stool samples and it serves as a potential stool biomarker for detection of advanced adenoma and CRC.", "output": {"entities": {"gene": [{"text": "EYA4", "start": 13, "end": 17}], "disease": [{"text": "adenoma", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether IGF-I promoter polymorphism was associated with birth weight and risk factors for cardiovascular disease (CVD) and type 2 diabetes (T2DM), and whether the birth weight--risk factor relationship was the same for each genotype.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 23, "end": 28}], "disease": [{"text": "birth weight", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to confirm the contribution of IRF6 to cleft lip with or without palate risk in additional Asian populations.", "output": {"entities": {"gene": [{"text": "IRF6", "start": 48, "end": 52}], "disease": [{"text": "cleft lip", "start": 56, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IRF6", "start": 48, "end": 52}, "tail": {"text": "cleft lip", "start": 56, "end": 65}}]}}, "schema": []}
{"input": "The significant changes in DISC1 and unc5H3 may be relevant to cerebellar dysfunction and schizophrenia respectively, in which these proteins have been previously implicated.", "output": {"entities": {"gene": [{"text": "unc5H3", "start": 37, "end": 43}], "disease": [{"text": "schizophrenia", "start": 90, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "unc5H3", "start": 37, "end": 43}, "tail": {"text": "schizophrenia", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "In FSGS glomeruli GLEPP1 was frequently absent from VGECs, even when no sclerosis was detectable in that glomerulus.", "output": {"entities": {"gene": [{"text": "GLEPP1", "start": 18, "end": 24}], "disease": [{"text": "sclerosis", "start": 72, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The function of RTP is unknown, however, the strong upregulation of RTP during cellular differentiation, and exposure to stress conditions including hypoxia suggests a specific role for RTP in these processes.", "output": {"entities": {"gene": [{"text": "RTP", "start": 16, "end": 19}], "disease": [{"text": "hypoxia", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The nucleotide pair (np) 13708 mutation (G to A, ND5 gene) changed an alanine to a threonine and was found in 6/25 (24%) of non-11778 LHON pedigrees and in 5. 0% of controls, the np 15257 mutation (G to A, cytochrome b gene) changed an aspartate to an asparagine and was found in 4 of the 13708-positive pedigrees and 0. 3% of controls, the np 15812 mutation (G to A, cytochrome b gene) changed a valine to a methionine and was detected in two of the 15257-positive pedigrees and 0. 1% of controls and the np 5244 mutation (G to A, ND2 gene) changed a glycine to a serine and was found in one of the 15812-positive patients and none of 2103 controls.", "output": {"entities": {"gene": [{"text": "ND2", "start": 532, "end": 535}], "disease": [{"text": "LHON", "start": 134, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND2", "start": 532, "end": 535}, "tail": {"text": "LHON", "start": 134, "end": 138}}]}}, "schema": []}
{"input": "One 15-bp insertion/deletion in exon 4 of TIM 1 was significantly related to atopy and eczema (relative risk associated with carrying at least 1 rare allele = 1. 24 [1. 07--1. 45], P =. 005; and 1. 43 [1. 01--2. 01], P =. 004, respectively).", "output": {"entities": {"gene": [{"text": "TIM", "start": 42, "end": 45}], "disease": [{"text": "atopy", "start": 77, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The protein levels of vascular endothelial growth factor (VEGF) were examined by western blot analysis and hypoxia-inducible factor-1α (HIF-1α) translocation was investigated by immunofluorescence.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 136, "end": 142}], "disease": [{"text": "translocation", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In spite of the frequent coexistence of RAD and CAD, no studies have specifically compared ACE insertion/deletion (I/D) polymorphism in patients with coronary versus renal artery disease or defined the risk of each disease associated with the D variant.", "output": {"entities": {"gene": [{"text": "RAD", "start": 40, "end": 43}], "disease": [{"text": "renal artery disease", "start": 166, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "After validating these data by MassArray Epityper, the promoter region of peptidase M20 domain containing 1 (PM20D1) gene was significantly hypermethylated in stroke patients.", "output": {"entities": {"gene": [{"text": "PM20D1", "start": 109, "end": 115}], "disease": [{"text": "stroke", "start": 159, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Genetic deletion of three genes in mice, Hoxb8, Sapap3, and Slitrk5, leads to pathological behaviors including adult-onset excessive grooming with mild-to-severe hair loss and self-injury.", "output": {"entities": {"gene": [{"text": "Hoxb8", "start": 41, "end": 46}], "disease": [{"text": "self-injury", "start": 176, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "It has recently been demonstrated that malignant glioma cells express certain known tumor-associated antigens, such as HER-2, gp100, and MAGE-1.", "output": {"entities": {"gene": [{"text": "gp100", "start": 126, "end": 131}], "disease": [{"text": "malignant glioma", "start": 39, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Of the twelve nasopharyngeal carcinomas expressing bcl-2, none showed a t (14; 18) chromosome translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 51, "end": 56}], "disease": [{"text": "chromosome translocation", "start": 83, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2.", "output": {"entities": {"gene": [{"text": "ABCA12", "start": 63, "end": 69}], "disease": [{"text": "LI2", "start": 116, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA12", "start": 63, "end": 69}, "tail": {"text": "LI2", "start": 116, "end": 119}}]}}, "schema": []}
{"input": "Spectral-domain OCT detected all cases of angiographic edema and areas of outer retinal dysfunction that were hypoautofluorescent on AF.", "output": {"entities": {"gene": [{"text": "OCT", "start": 16, "end": 19}], "disease": [{"text": "edema", "start": 55, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The U87 glioma cells relatively resistant to Ph-PDT were obtained by recovering the viable cells 3 h after PDT treatment.", "output": {"entities": {"gene": [{"text": "U87", "start": 4, "end": 7}], "disease": [{"text": "glioma", "start": 8, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "We found no significant differences in calcium-or calmodulin-dependent (Ca2 +, Mg2 +) ATPase kinetics between patients with FBH or primary hyperparathyroidism and their age-and sex-matched normal subjects.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 72, "end": 75}], "disease": [{"text": "primary hyperparathyroidism", "start": 131, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Moreover, CETP * V was found to be associated with hypertriglyceridemia (hTG) independently from APOE * 4, age, BMI, alcohol drinking, TC, TG, HDL-c, and LDL-c.", "output": {"entities": {"gene": [{"text": "CETP", "start": 10, "end": 14}], "disease": [{"text": "alcohol drinking", "start": 117, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 20, "end": 26}], "disease": [{"text": "mulibrey nanism", "start": 46, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIM37", "start": 20, "end": 26}, "tail": {"text": "mulibrey nanism", "start": 46, "end": 61}}]}}, "schema": []}
{"input": "Genotyping was performed in 107 D/R DNA pairs for gene polymorphisms of cytokines (tumor necrosis factor-alpha [TNF-alpha] and TNF-beta, interleukin-1 receptor antagonist [IL-1Ra], IL-6, and IL-10), adhesion molecules (CD31 and CD54), Fcgammareceptors (FcgammaRIIa, IIIa, IIIb), mannose-binding lectin (MBL), and myeloperoxidase (MPO).", "output": {"entities": {"gene": [{"text": "MBL", "start": 303, "end": 306}], "disease": [{"text": "adhesion", "start": 199, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The cytokine IL-22, which is produced by T cells and NK cells, is associated with tumorigenesis and tumor progression in cancers.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 13, "end": 18}], "disease": [{"text": "tumorigenesis", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Understanding the mechanisms underlying the role of CTGF in airway remodelling may lead to new therapeutic strategies for asthma.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 52, "end": 56}], "disease": [{"text": "airway remodelling", "start": 60, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In congruence with its role in cancer, NPM is over-expressed in primary malignant lung cancer tissues.", "output": {"entities": {"gene": [{"text": "NPM", "start": 39, "end": 42}], "disease": [{"text": "lung cancer", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Circulation of GPC-3-mRNA was detected in HCC patients with relation to TNM stage, periportal cancerous embolus, and extra-hepatic metastasis.", "output": {"entities": {"gene": [{"text": "GPC", "start": 15, "end": 18}], "disease": [{"text": "embolus", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Among atopic workers with CD-14 (-550) polymorphism CC, IL-8 was lower.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 56, "end": 60}], "disease": [{"text": "atopic", "start": 6, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy.", "output": {"entities": {"gene": [{"text": "SYP", "start": 67, "end": 70}], "disease": [{"text": "XLMR", "start": 51, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SYP", "start": 67, "end": 70}, "tail": {"text": "XLMR", "start": 51, "end": 55}}]}}, "schema": []}
{"input": "A total of 73 persons were enrolled: 21 patients with mild AD, 21 with moderate-to-severe AD, 13 with X-linked ichthyosis (XLI) as a negative control for filaggrin gene (FLG) mutation, and 18 healthy controls.", "output": {"entities": {"gene": [{"text": "FLG", "start": 170, "end": 173}], "disease": [{"text": "mild", "start": 54, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The majority of FLs display a t (14; 18) translocation that places the bcl-2 gene into juxtaposition with the lg heavy-chain (H) gene locus.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 71, "end": 81}], "disease": [{"text": "translocation", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In this study we have demonstrated for the first time that connexin 43 but not connexin 32 is specifically and quite frequently mutated in human colon sporadic adenocarcinomas.", "output": {"entities": {"gene": [{"text": "connexin 43", "start": 59, "end": 70}], "disease": [{"text": "sporadic", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "In 12 patients on hemodialysis and in 6 patients with preterminal renal failure serum, EPO was 29 +/-7 and 16 +/-1. 5 mU/ml and hemoglobin concentrations were 11. 0 +/-0. 6 and 12. 7 +/-1. 2 g/dl, respectively.", "output": {"entities": {"gene": [{"text": "EPO", "start": 87, "end": 90}], "disease": [{"text": "hemoglobin", "start": 128, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Drusenlike deposits were more selectively observed in carriers with mutations in the AIPL1, CRB1, RPE65, and RPGRIP1 genes, whereas mild peripheral chorioretinal atrophy was only observed in AIPL1 and RPE65 carriers.", "output": {"entities": {"gene": [{"text": "AIPL1", "start": 85, "end": 90}], "disease": [{"text": "mild", "start": 132, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The stress-inducible chaperone protein HSP70 (HSPA1) is implicated in melanoma development, and HSP70 inhibitors exert tumor-specific cytotoxic activity in cancer.", "output": {"entities": {"gene": [{"text": "HSPA1", "start": 46, "end": 51}], "disease": [{"text": "melanoma", "start": 70, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSPA1", "start": 46, "end": 51}, "tail": {"text": "melanoma", "start": 70, "end": 78}}]}}, "schema": []}
{"input": "In conclusion, the present study confirms the efficiency of the SKY technique in resolving and characterizing many complex chromosome anomalies seen in childhood B-ALLs, but it raises questions about the ability of this technique to detect cryptic rearrangements, such as the t (12; 21) translocation.", "output": {"entities": {"gene": [{"text": "SKY", "start": 64, "end": 67}], "disease": [{"text": "translocation", "start": 287, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "However, it is now possible to begin to integrate some of the endocrinological abnormalities within the energy balance framework, centred on BAT, that has been developed over the past few years.", "output": {"entities": {"gene": [{"text": "BAT", "start": 141, "end": 144}], "disease": [{"text": "abnormalities", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "An enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expression.", "output": {"entities": {"gene": [{"text": "TNFAIP3", "start": 96, "end": 103}], "disease": [{"text": "systemic lupus erythematosus", "start": 55, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFAIP3", "start": 96, "end": 103}, "tail": {"text": "systemic lupus erythematosus", "start": 55, "end": 83}}]}}, "schema": []}
{"input": "Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 41, "end": 62}], "disease": [{"text": "Fabry disease", "start": 71, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 41, "end": 62}, "tail": {"text": "Fabry disease", "start": 71, "end": 84}}]}}, "schema": []}
{"input": "We therefore examined whether TIMP4 is involved in human inflammatory cardiovascular disorders, specifically atherosclerosis, giant cell arteritis and chronic rejection of heart allografts.", "output": {"entities": {"gene": [{"text": "TIMP4", "start": 30, "end": 35}], "disease": [{"text": "atherosclerosis", "start": 109, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Moreover, patients with the HYA haplotype encountered significantly more febrile neutropenia than patients without this high MBL-producing haplotype (16% versus 4%).", "output": {"entities": {"gene": [{"text": "HYA", "start": 28, "end": 31}], "disease": [{"text": "febrile neutropenia", "start": 73, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Members of 16 families with autosomal recessive CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12.", "output": {"entities": {"gene": [{"text": "CHED", "start": 48, "end": 52}], "disease": [{"text": "CHED2", "start": 105, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHED", "start": 48, "end": 52}, "tail": {"text": "CHED2", "start": 105, "end": 110}}]}}, "schema": []}
{"input": "Mutations in mullerian inhibiting substance (MIS) or MISRII cause male sexual abnormalities, persistent mullerian duct syndrome, and pseudohermaphroditism.", "output": {"entities": {"gene": [{"text": "MIS", "start": 45, "end": 48}], "disease": [{"text": "abnormalities", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Rather, they provide further evidence that Fanconi-Bickel syndrome is caused by GLUT2 mutations.", "output": {"entities": {"gene": [{"text": "GLUT2", "start": 80, "end": 85}], "disease": [{"text": "Fanconi-Bickel syndrome", "start": 43, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT2", "start": 80, "end": 85}, "tail": {"text": "Fanconi-Bickel syndrome", "start": 43, "end": 66}}]}}, "schema": []}
{"input": "A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.", "output": {"entities": {"gene": [{"text": "HSD11B2", "start": 18, "end": 25}], "disease": [{"text": "apparent mineralocorticoid excess", "start": 48, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSD11B2", "start": 18, "end": 25}, "tail": {"text": "apparent mineralocorticoid excess", "start": 48, "end": 81}}]}}, "schema": []}
{"input": "Detection of JAZF1, SUZ12, EPC1, and PHF1 rearrangement by fluorescence in situ hybridization was performed on tissue microarrays consisting of 94 ESTs of classic and variant morphology (20 ESNs, 43 primary uterine ESSs, 15 metastatic uterine ESSs, 4 primary extrauterine ESSs, 7 primary uterine UESs, and 5 unclassified ESTs), 16 Müllerian adenosarcomas, 2 malignant mixed Müllerian tumors, 2 uterine tumors resembling ovarian sex-cord tumors, 2 highly cellular leiomyomas, 1 leiomyosarcoma, and 7 polypoid endometriosis.", "output": {"entities": {"gene": [{"text": "ESSs", "start": 215, "end": 219}], "disease": [{"text": "leiomyosarcoma", "start": 477, "end": 491}]}, "relations": {}}, "schema": []}
{"input": "A pattern of lipoprotein abnormalities characterized by increased hepatic production of apolipoprotein B-containing lipoprotein particles, high blood pressure, visceral obesity, and peripheral insulin resistance are identified with increasing frequency in subjects with premature coronary artery disease (CAD).", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 88, "end": 104}], "disease": [{"text": "abnormalities", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The level of DAPK protein expression was significantly low in atrophic gastritis compared with those without atrophy (P = 0. 003).", "output": {"entities": {"gene": [{"text": "DAPK", "start": 13, "end": 17}], "disease": [{"text": "atrophic gastritis", "start": 62, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Twenty-seven% of anti-AnnV positive patients reported migraine vs 5. 5% of anti-AnnV negatives (p = 0. 003, but p not significant, odds ratio (OR) = 6. 4, 95% confidence interval (CI) = 2-21).", "output": {"entities": {"gene": [{"text": "2-21", "start": 186, "end": 190}], "disease": [{"text": "migraine", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the present study is, to the best of our knowledge, the first to demonstrate that the overexpression of TAZ induces EMT, increasing the invasive abilities of neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "EMT", "start": 131, "end": 134}], "disease": [{"text": "neuroblastoma", "start": 173, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Melanomas isolated from subcutaneously implanted mice, 25 days from treatment with AICAR, showed increased staining of the senescence-associated marker β-galactosidase, high p21 expression, and evidence of necrosis.", "output": {"entities": {"gene": [{"text": "p21", "start": 174, "end": 177}], "disease": [{"text": "necrosis", "start": 206, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that in humans there is an increased bone marrow pool of CCR3 (+) mature and immature eosinophils available for rapid mobilization in subjects with asthma but not in atopic subjects with no asthma.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 80, "end": 84}], "disease": [{"text": "atopic", "start": 189, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Isochromosome of the long arm of the derivative chromosome 17, originating from the translocation t (15; 17) [ider (17) (q10) t (15; 17) or ider (17q)] in acute promyelocytic leukemia (APL), is a rare chromosome aberration which has been associated with a poor prognosis.", "output": {"entities": {"gene": [{"text": "q10", "start": 121, "end": 124}], "disease": [{"text": "acute promyelocytic leukemia", "start": 155, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.", "output": {"entities": {"gene": [{"text": "OSBPL5", "start": 227, "end": 233}], "disease": [{"text": "alcohol dependence", "start": 240, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OSBPL5", "start": 227, "end": 233}, "tail": {"text": "alcohol dependence", "start": 240, "end": 258}}]}}, "schema": []}
{"input": "Keywords: thyroid-stimulating hormone receptor, papillary thyroid microcarcinoma, diagnosis.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 30, "end": 46}], "disease": [{"text": "papillary thyroid microcarcinoma", "start": 48, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "RTCB-1 is the worm ortholog of the human HSPC117 protein, a component of RNA trafficking granules in mammalian neurons.", "output": {"entities": {"gene": [{"text": "HSPC117", "start": 41, "end": 48}], "disease": [{"text": "worm", "start": 14, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The enzyme aldosterone synthase is not only expressed in the zona fasiculata but is also regulated by adrenocorticotrophic hormone in this condition.", "output": {"entities": {"gene": [{"text": "aldosterone synthase", "start": 11, "end": 31}], "disease": [{"text": "zona", "start": 61, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The phenotype of FREM1-related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome.", "output": {"entities": {"gene": [{"text": "FREM1", "start": 17, "end": 22}], "disease": [{"text": "BNAR", "start": 84, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FREM1", "start": 17, "end": 22}, "tail": {"text": "BNAR", "start": 84, "end": 88}}]}}, "schema": []}
{"input": "Moreover, potent pharmacologic inhibitors of MYC or EZH2 suppressed prostate cancer cell growth in vitro, and the knockdown of MST1 caused cells' resistance to MYC and EZH2 inhibitor-induced growth retardation.", "output": {"entities": {"gene": [{"text": "MYC", "start": 45, "end": 48}], "disease": [{"text": "growth retardation", "start": 191, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Genotyping results of the Glu298Asp polymorphism of the NOS3 were analyzed between the endometriosis and control group.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 56, "end": 60}], "disease": [{"text": "endometriosis", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The 1 meningioma with a CDKN2/p16 deletion was a meningothelial meningioma, without atypical or malignant features.", "output": {"entities": {"gene": [{"text": "CDKN2", "start": 24, "end": 29}], "disease": [{"text": "meningothelial meningioma", "start": 49, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results suggest that 5-HT (1A) receptor activation is a critical step in the activation of seizure-induced cell proliferation and survival in the dentate gyrus, however, not for the onset of spontaneously recurrent seizures and MFS.", "output": {"entities": {"gene": [{"text": "5-HT (1A", "start": 43, "end": 51}], "disease": [{"text": "seizure", "start": 113, "end": 120}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "5-HT (1A", "start": 43, "end": 51}, "tail": {"text": "seizure", "start": 113, "end": 120}}]}}, "schema": []}
{"input": "Given the very poor prognosis of infantile spasms especially in such conditions as cerebral palsy, the combination of ACTH and vigabatrin appears to be an interesting therapy advance with very few side effects.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 118, "end": 122}], "disease": [{"text": "cerebral palsy", "start": 83, "end": 97}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 118, "end": 122}, "tail": {"text": "cerebral palsy", "start": 83, "end": 97}}]}}, "schema": []}
{"input": "Circulating levels of certain angiogenic cytokines correlate with patients' prognosis after resection for pancreatic cancer, if a panel of several CAC is considered simultaneously.", "output": {"entities": {"gene": [{"text": "CAC", "start": 147, "end": 150}], "disease": [{"text": "pancreatic cancer", "start": 106, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These observations suggest the contribution of the CCR1-CCL3 axis to HCC progression.", "output": {"entities": {"gene": [{"text": "CCL3", "start": 56, "end": 60}], "disease": [{"text": "HCC", "start": 69, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCL3", "start": 56, "end": 60}, "tail": {"text": "HCC", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "The antagonist of IP3R, 2APB, inhibited cell proliferation and induced apoptosis in gastric cancer cells from malignant ascites at concentrations of 100 nM to 100 microM in a dose-dependent manner.", "output": {"entities": {"gene": [{"text": "IP3R", "start": 18, "end": 22}], "disease": [{"text": "gastric cancer", "start": 84, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the expression of the hypoxia-regulated genes, including hypoxia-inducible factor-1alpha (HIF-1alpha), erythropoietin (Epo), vascular endothelial growth factor (VEGF), glucose transporter 1 (GLUT1), carbonic anhydrase IX (CAIX), and MET, in cervical cell lines and human tissue samples of cervical intraepithelial neoplasia (CIN I-III) and invasive squamous cell carcinoma (ISCC).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 173, "end": 177}], "disease": [{"text": "hypoxia", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "A functional cooperation among the transcription factors mediating hypoxia (HIF-1, Sp1), the TGF-beta pathway (Smad3/4), and tissue-specific HNF-4 is proposed for the regulation of the Epo gene.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 93, "end": 101}], "disease": [{"text": "hypoxia", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The effect of luteolin on t-BH-induced and hypoxia-induced VEGF transcription and expression were evaluated by RT-PCR and Western blot, respectively.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 59, "end": 63}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53.", "output": {"entities": {"gene": [{"text": "CHK2", "start": 56, "end": 60}], "disease": [{"text": "LFS", "start": 88, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHK2", "start": 56, "end": 60}, "tail": {"text": "LFS", "start": 88, "end": 91}}]}}, "schema": []}
{"input": "We report the case of a female never-smoking patient with an epidermal growth factor receptor (EGFR) mutation positive advanced non-small cell lung cancer (NSCLC) who received multiple lines of treatment.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 95, "end": 99}], "disease": [{"text": "smoking", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Using double in situ hybridization in postmortem human prefrontal cortex, we found that the messenger RNA (mRNA) for the γ-aminobutyric acid (GABA) transporter GAT-1 was undetectable in 22-41% of PV neurons in layers 3-4 in schizophrenia.", "output": {"entities": {"gene": [{"text": "GAT", "start": 160, "end": 163}], "disease": [{"text": "schizophrenia", "start": 224, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "The translocation occurred in the 5' region of the BCL5 gene, and the protein-coding exons were fused to the Ig-lambda gene in a head-to-head configuration in the cell line carrying t (3; 22).", "output": {"entities": {"gene": [{"text": "BCL5 gene", "start": 51, "end": 60}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "These results confirm that genetic variation at the FTO locus contributes to the etiology of obesity, insulin resistance, and increased plasma leptin levels.", "output": {"entities": {"gene": [{"text": "FTO", "start": 52, "end": 55}], "disease": [{"text": "insulin resistance", "start": 102, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We analyzed repair of oxidative DNA damage by the base-excision repair (BER) pathway, which when aberrant leads to genomic instability and breast carcinogenesis, in cell lines that represent the different subtypes of breast cancer and in the presence of BRCA1 deficiency.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 254, "end": 259}], "disease": [{"text": "genomic instability", "start": 115, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Although MR-1 gene function is unknown, the precedence of ion channel disturbance in other episodic neurologic disorders suggests that the pathophysiologic features of PDC also involve abnormal ion localization.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 9, "end": 13}], "disease": [{"text": "PDC", "start": 168, "end": 171}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MR-1", "start": 9, "end": 13}, "tail": {"text": "PDC", "start": 168, "end": 171}}]}}, "schema": []}
{"input": "These lymphomas are aggressive and show high proliferation rate due to the growth advantages provided by MYC and BCL2 translocation and overexpression.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 113, "end": 117}], "disease": [{"text": "translocation", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "HRG and COX-2 expressions in surgical resections of human gastric ulcer tissue were examined immunohistochemically.", "output": {"entities": {"gene": [{"text": "HRG", "start": 0, "end": 3}], "disease": [{"text": "gastric ulcer", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Univariate analyses revealed several CNAs significantly associated with ethnicity, EGFR mutation, and smoking, but not to gender, and KRAS or p53 mutations.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 83, "end": 87}], "disease": [{"text": "smoking", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "LKB1, the human gene encoding a serine threonine kinase, was recently identified as a susceptibility gene for Peutz-Jeghers syndrome (PJS), a disease characterized by the constellation of intestinal hamartomata, oral mucocutaneous hyperpigmentation, and an increased risk for gastrointestinal as well as extraintestinal malignancies.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 0, "end": 4}], "disease": [{"text": "hyperpigmentation", "start": 231, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 58, "end": 79}], "disease": [{"text": "Fabry disease", "start": 118, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 58, "end": 79}, "tail": {"text": "Fabry disease", "start": 118, "end": 131}}]}}, "schema": []}
{"input": "Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive occlusion of the terminal portion of the internal carotid arteries and their branches.", "output": {"entities": {"gene": [{"text": "MMD", "start": 18, "end": 21}], "disease": [{"text": "cerebrovascular disease", "start": 33, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Tumor necrosis factor (TNF) is a potent proinflammatory cytokine involved in asthma and atopy.", "output": {"entities": {"gene": [{"text": "TNF", "start": 23, "end": 26}], "disease": [{"text": "atopy", "start": 88, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The studies of pedigrees have shown dilated cardiomyopathy (DCM) is related with mutation of PLB.", "output": {"entities": {"gene": [{"text": "PLB", "start": 93, "end": 96}], "disease": [{"text": "dilated cardiomyopathy", "start": 36, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "DYX3, a locus for dyslexia, resides on chromosome 2p11-p15.", "output": {"entities": {"gene": [{"text": "p15", "start": 55, "end": 58}], "disease": [{"text": "dyslexia", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "To assess the role of polymorphisms in the beta2-adrenergic receptor gene in the development of obesity and obesity-related metabolic disorders, we analysed Arg16Gly, Gln27Glu, and Thr164Ile polymorphisms in 400 non-obese subjects (body mass index < 27 kg/m2) and 108 obese subjects (body mass index > or = 27 kg/m2).", "output": {"entities": {"gene": [{"text": "beta2", "start": 43, "end": 48}], "disease": [{"text": "body mass index", "start": 232, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Combination of AQP3-siRNA with cisplatin, a major anti-cancer drug, strongly inhibited the growth of SCC.", "output": {"entities": {"gene": [{"text": "AQP3", "start": 15, "end": 19}], "disease": [{"text": "SCC", "start": 101, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AQP3", "start": 15, "end": 19}, "tail": {"text": "SCC", "start": 101, "end": 104}}]}}, "schema": []}
{"input": "Six further cases with a primary diagnosis of autism spectrum disorder (ASD) and similar secondary phenotypes were identified with ELP4 deletions, as well as another six (out of nine) with neurodevelopmental phenotypes from DECIPHER.", "output": {"entities": {"gene": [{"text": "ELP4", "start": 131, "end": 135}], "disease": [{"text": "secondary", "start": 89, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the changes in the expression levels of GDNF, ARTN, and NT-3 mRNAs might be state-dependent and associated with the pathophysiology of major depression.", "output": {"entities": {"gene": [{"text": "NT-3", "start": 81, "end": 85}], "disease": [{"text": "major depression", "start": 160, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NT-3", "start": 81, "end": 85}, "tail": {"text": "major depression", "start": 160, "end": 176}}]}}, "schema": []}
{"input": "These data suggest that chronic binge drinking and the resulting liver disease shifts the key enzyme in alcohol metabolism from low-K (m) ADH1 to high-K (m) ADH3, thereby reducing the rate of alcohol metabolism.", "output": {"entities": {"gene": [{"text": "ADH3", "start": 157, "end": 161}], "disease": [{"text": "binge drinking", "start": 32, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The DMH is therefore a useful model for studying the abnormalities of the E-cadherin-catenin pathway in colorectal carcinogenesis.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 74, "end": 84}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Moreover, CCL18 effluent concentrations correlated with decreased peritoneal function, which was evaluated as dialysate to plasma ratio of creatinine (r = 0. 724, P < 0. 0001), and were significantly higher in patients with UFF (P = 0. 0025) and in those who later developed sclerosing peritonitis (P = 0. 024).", "output": {"entities": {"gene": [{"text": "CCL18", "start": 10, "end": 15}], "disease": [{"text": "peritonitis", "start": 286, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Mutations were found in 11 (36%) of 31 sporadic colon carcinomas, 4 (50%) of 8 hereditary colorectal cancers, and 5 (22%) of 23 RER + gastric carcinomas, but in only 2 (6%) of 32 RER-gastric carcinomas.", "output": {"entities": {"gene": [{"text": "RER", "start": 128, "end": 131}], "disease": [{"text": "carcinomas", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous HOXA13 mutations have been previously reported in hand-foot-genital syndrome and Guttmacher syndrome, which are variably associated with small nails, short distal and middle phalanges, short thumbs and halluces, but not absent nails.", "output": {"entities": {"gene": [{"text": "HOXA13", "start": 13, "end": 19}], "disease": [{"text": "hand-foot-genital syndrome", "start": 63, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXA13", "start": 13, "end": 19}, "tail": {"text": "hand-foot-genital syndrome", "start": 63, "end": 89}}]}}, "schema": []}
{"input": "In the context of inherited neuropathy, giant axons are typically associated with autosomal recessive giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL-and SH3TC2-associated Charcot-Marie-Tooth disease.", "output": {"entities": {"gene": [{"text": "gigaxonin", "start": 136, "end": 145}], "disease": [{"text": "giant", "start": 40, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The MCL1 gene, recently identified in a myeloid leukemia cell line, has sequence similarity to BCL2, the gene at the t (14; 18) translocation in follicular lymphoma.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 95, "end": 99}], "disease": [{"text": "translocation", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Thus, high levels of Mps1 in breast cancer cells likely contribute to these cells tolerating aneuploidy.", "output": {"entities": {"gene": [{"text": "Mps1", "start": 21, "end": 25}], "disease": [{"text": "aneuploidy", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "IL-17F is a recently discovered cytokine that plays a role in tissue inflammation by inducing release of proinflammatory and neutrophil-mobilizing cytokines.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 0, "end": 6}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The most common cytogenetic abnormality in these tumors is t (7; 17) (p15; q21), which occurs in 33% to 80% of cases and results in a JAZF1-JJAZ1 gene fusion.", "output": {"entities": {"gene": [{"text": "JJAZ1", "start": 140, "end": 145}], "disease": [{"text": "cytogenetic abnormality", "start": 16, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Expression of DRCTNNB1A in SW480 colon cancer cells was significantly increased in response to reduction of intracellular beta-catenin by adenovirus-mediated transfer of the beta-catenin-binding domain of the adenomatous polyposis coli gene into the cells.", "output": {"entities": {"gene": [{"text": "DRCTNNB1A", "start": 14, "end": 23}], "disease": [{"text": "adenomatous polyposis coli", "start": 209, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.", "output": {"entities": {"gene": [{"text": "tau", "start": 65, "end": 68}], "disease": [{"text": "frontotemporal dementia", "start": 11, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tau", "start": 65, "end": 68}, "tail": {"text": "frontotemporal dementia", "start": 11, "end": 34}}]}}, "schema": []}
{"input": "Novel genes specific for human oligodendroglioma and glioblastoma multiforme (GBM) were detected using the gene array analysis [18, 376 genes Gene Discovery Array (GDA) from Incyte Genomics, Inc.].", "output": {"entities": {"gene": [{"text": "GDA", "start": 164, "end": 167}], "disease": [{"text": "glioblastoma multiforme", "start": 53, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.", "output": {"entities": {"gene": [{"text": "LGI1", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, soluble TSP did not bind SS-RBCs as detected by flow cytometry, nor inhibit SS-RBC adhesion to immobilized TSP under conditions of flow, indicating that the adhesive site on TSP that recognizes SS-RBCs is exposed only after TSP binds to a matrix.", "output": {"entities": {"gene": [{"text": "TSP", "start": 21, "end": 24}], "disease": [{"text": "adhesion", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "]-β, IL-10, IL-Ra), and other immunoregulatory factors (FcγRIIa, NOS3) along with the conventional risk factors on the rate of hematopoietic recovery and first episodes of bacterial, viral, or invasive fungal infections in 102 patients with β-thalassaemia major who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) with relatively uniform protocols at our center from June 1995 to June 2004 with a minimum follow-up of at least 2 years were studied retrospectively for 180 days after hematopoietic stem cell transplantation (HSCT).", "output": {"entities": {"gene": [{"text": "NOS3", "start": 65, "end": 69}], "disease": [{"text": "invasive fungal infections", "start": 193, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Recently, it has been shown in the general population that an allele in the adiponutrin (PNPLA3) gene was strongly associated with increased liver fat content (LFC), independently of visceral adiposity and insulin resistance.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 89, "end": 95}], "disease": [{"text": "insulin resistance", "start": 206, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "In order to analyze the nervous system of Splotch embryos in more detail, we employed the transgenic mouse line L17.", "output": {"entities": {"gene": [{"text": "L17", "start": 112, "end": 115}], "disease": [{"text": "nervous system", "start": 24, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The highest observed numerical chromosome abnormality was high hyperdiploidy in 89 patients (54%) with abnormal karyotype while the TEL-AML fusion was the highest observed structural abnormality.", "output": {"entities": {"gene": [{"text": "TEL", "start": 132, "end": 135}], "disease": [{"text": "chromosome abnormality", "start": 31, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In this study, we screened for LKB1 mutations in nine PJS families of American, Spanish, Portuguese, French, Turkish, and Indian origin and detected seven novel mutations.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 31, "end": 35}], "disease": [{"text": "PJS", "start": 54, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LKB1", "start": 31, "end": 35}, "tail": {"text": "PJS", "start": 54, "end": 57}}]}}, "schema": []}
{"input": "Experiments on cancer cell lines and animal models indicated that alteration in expression of N-myc down-regulated gene 1 (NDRG1) is associated with development of colon cancer.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 94, "end": 99}], "disease": [{"text": "colon cancer", "start": 164, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "This led to the discovery that iron deficiency is an environmental trigger that stimulates FGF23 expression and hypophosphatemia in ADHR.", "output": {"entities": {"gene": [{"text": "ADHR", "start": 132, "end": 136}], "disease": [{"text": "hypophosphatemia", "start": 112, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous females are usually asymptomatic, but pregnancy may modify thyroid function and MCT8 is expressed in the placenta, suggesting that maternal and fetal abnormalities might develop even in the absence of MCT8 fetal mutation.", "output": {"entities": {"gene": [{"text": "MCT8", "start": 93, "end": 97}], "disease": [{"text": "abnormalities", "start": 163, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Blood pressure, heart rate, and locomotor activity were measured by radiotelemetry in transgenic mice with ubiquitous expression of human RAMP1 (hRAMP1) and littermate controls.", "output": {"entities": {"gene": [{"text": "RAMP1", "start": 138, "end": 143}], "disease": [{"text": "heart rate", "start": 16, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Short hairpin RNA targeting autotaxin reduces human gastric carcinoma AGS cell proliferative, migratory and invasive capabilities in vitro and causes tumor regression in vivo.", "output": {"entities": {"gene": [{"text": "autotaxin", "start": 28, "end": 37}], "disease": [{"text": "gastric carcinoma", "start": 52, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "This hyperleptinaemia, despite leptin receptor expression in tumours, did not induce significant variation in tumour volume or weight.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 31, "end": 46}], "disease": [{"text": "weight", "start": 127, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The aim of this review is to consider the evidence regarding the role of the BCR in tumorigenesis of B-cell lymphomas, and discuss different approaches used in evaluating this role in the persistence and progression of these malignancies.", "output": {"entities": {"gene": [{"text": "BCR", "start": 77, "end": 80}], "disease": [{"text": "tumorigenesis", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "NADPH reductase quinone oxidoreductase 1 (NQO1) is needed to maintain a cellular pool of antioxidants, and this enzyme may contribute to tumorigenesis on the basis of studies in NQO1-deficient mice.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 42, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Injection of Ad5-yCD/mutTK (SR39) rep-ADP in the dog pancreas at doses (10 (12) virus particle (vp)) to be used in humans resulted in mild pancreatitis but not peritonitis or hepatotoxicity.", "output": {"entities": {"gene": [{"text": "ADP", "start": 38, "end": 41}], "disease": [{"text": "peritonitis", "start": 160, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Several adhesion molecules, cytokines, growth factors, and proteases have recently been identified as downstream targets of PAR-1 and have been shown to modulate interactions between tumor cells and the microenvironment in the process of melanoma growth and metastasis.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 124, "end": 129}], "disease": [{"text": "adhesion", "start": 8, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "High-dose chemotherapy triggers apoptosis, necrosis and senescence, a cellular stress response leading to permanent proliferative arrest and a typical senescence-associated secretome (SASP).", "output": {"entities": {"gene": [{"text": "SASP", "start": 184, "end": 188}], "disease": [{"text": "necrosis", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.", "output": {"entities": {"gene": [{"text": "FOXF1", "start": 94, "end": 99}], "disease": [{"text": "alveolar capillary dysplasia", "start": 106, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXF1", "start": 94, "end": 99}, "tail": {"text": "alveolar capillary dysplasia", "start": 106, "end": 134}}]}}, "schema": []}
{"input": "Thus, our data demonstrated that both apoptotic and necrotic actions of cadmium were attenuated by bcl-2.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 99, "end": 104}], "disease": [{"text": "necrotic", "start": 52, "end": 60}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "bcl-2", "start": 99, "end": 104}, "tail": {"text": "necrotic", "start": 52, "end": 60}}]}}, "schema": []}
{"input": "Furthermore, we did not detect any association of IL-10 genotype with antinuclear antibody, malar rash, photosensitivity, discoid lupus, mucosal ulcer, arthritis, serositis, hematology, immunology, involvement of central nervous system, and renal disease involvement in the SLE patients.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 50, "end": 55}], "disease": [{"text": "photosensitivity", "start": 104, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Strikingly, all of the tumors with SAS amplification occurred in central sites (i. e., in the abdominal or inguinal regions) rather than in the extremities (i. e., in the arms of legs).", "output": {"entities": {"gene": [{"text": "SAS", "start": 35, "end": 38}], "disease": [{"text": "arms", "start": 171, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Promising fusion protein design to target the U87 MG glioma cell line.", "output": {"entities": {"gene": [{"text": "U87", "start": 46, "end": 49}], "disease": [{"text": "glioma", "start": 53, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate hMLH1, hMSH2, MGMT, as well as MIB-1, p53, and beta-catenin immunoexpression in an uncommon cohort of mixed colonic polyps that contain a combination of hyperplastic and adenomatous features (n = 21), and in some (n = 7), carcinoma as well.", "output": {"entities": {"gene": [{"text": "MIB-1", "start": 69, "end": 74}], "disease": [{"text": "colonic polyps", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The TFs investigated are known to be typically responsive to heat shock (HSF), hypoxia (HIF-1), pro-and antioxidant conditions (AP-1), or to various environmental changes (HNF-1 and ATF/CREB family).", "output": {"entities": {"gene": [{"text": "CREB", "start": 186, "end": 190}], "disease": [{"text": "shock", "start": 66, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls.", "output": {"entities": {"gene": [{"text": "SLC45A2", "start": 108, "end": 115}], "disease": [{"text": "skin cancer", "start": 218, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "This study describes a novel partial deletion of the STS gene in an X-linked ichthyosis patient.", "output": {"entities": {"gene": [{"text": "STS", "start": 53, "end": 56}], "disease": [{"text": "X-linked ichthyosis", "start": 68, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STS", "start": 53, "end": 56}, "tail": {"text": "X-linked ichthyosis", "start": 68, "end": 87}}]}}, "schema": []}
{"input": "The genes involved in the last 2 pathways are the p53, serine threonine protein kinase 15 (STK15), triple-function domain (TRIO), fragile histidine triad (FHIT), p63 genes; and alterations of 20q and 5p, alterations of adhesions, angiogenesis, and matrix-remodeling gene products also are involved.", "output": {"entities": {"gene": [{"text": "p63", "start": 162, "end": 165}], "disease": [{"text": "adhesions", "start": 219, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Our data provide evidence that human cerebral CD90 + perivascular cells possess T cell inhibitory capability comparable to human MSC and suggest that these cells, besides their critical role in tumor vascularization, also promote local immunosuppression in malignant gliomas and possibly other brain diseases.", "output": {"entities": {"gene": [{"text": "MSC", "start": 129, "end": 132}], "disease": [{"text": "vascularization", "start": 200, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "We show that patients with ALS do not manifest this VEGF overexpression in the presence of hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 52, "end": 56}], "disease": [{"text": "hypoxia", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Since this receptor is within a potential linkage region, ACTHR/MC-2 could be considered a candidate gene for BP.", "output": {"entities": {"gene": [{"text": "ACTHR", "start": 58, "end": 63}], "disease": [{"text": "BP", "start": 110, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTHR", "start": 58, "end": 63}, "tail": {"text": "BP", "start": 110, "end": 112}}]}}, "schema": []}
{"input": "MPO-dependent oxidation of lipoproteins has been implicated in foam cell formation, dysfunctional HDL, and abnormalities in reverse cholesterol transport.", "output": {"entities": {"gene": [{"text": "MPO", "start": 0, "end": 3}], "disease": [{"text": "abnormalities", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We propose that IL-1 and the IL-6 family of cytokines regulate YKL-40 expression during sterile inflammation via both STAT3 and RelB/p50 complexes.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 118, "end": 123}], "disease": [{"text": "sterile", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In contrast, VHL had no effect on the hypoxia-mediated increase in VEGF expression in these cells, although basal levels of VEGF expression were substantially reduced.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 67, "end": 71}], "disease": [{"text": "hypoxia", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase", "start": 57, "end": 75}], "disease": [{"text": "lipoprotein lipase deficiency", "start": 88, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lipoprotein lipase", "start": 57, "end": 75}, "tail": {"text": "lipoprotein lipase deficiency", "start": 88, "end": 117}}]}}, "schema": []}
{"input": "Serum withdrawal down-regulated Id1 and Id3 expression in chondrocytes but not the Id1 expression in chondrosarcoma cells.", "output": {"entities": {"gene": [{"text": "Id1", "start": 32, "end": 35}], "disease": [{"text": "chondrosarcoma", "start": 101, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The levels of HIF-1alpha and VEGF protein expression in SW480 cells were significantly higher in the hypoxia group than in the normoxia group (P < 0. 01, P < 0. 05, respectively) and hypoxia/genistein group (P < 0. 01, P < 0. 05, respectively).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 29, "end": 33}], "disease": [{"text": "hypoxia", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Bcl-2 and MALT1 genes are located at or near the translocation breakpoints, and the aim of this study was to determine whether these genes were involved in chromosomal translocation or tumorigenesis.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 0, "end": 5}], "disease": [{"text": "chromosomal translocation", "start": 156, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "For expression analysis on transcriptional level quantitative real-time RT-PCR was performed in 22 HCC and 22 non-neoplastic liver cirrhotic tissues.", "output": {"entities": {"gene": [{"text": "HCC", "start": 99, "end": 102}], "disease": [{"text": "non-neoplastic", "start": 110, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We explored (i) if EZH2 expression is regulated by hypoxia and ischemia; (ii) the impact of EZH2 on the expression of two pro-angiogenic genes: eNOS and BDNF; (iii) the functional effect of EZH2 inhibition on cultured endothelial cells (ECs); (iv) the therapeutic potential of EZH2 inhibition in a mouse model of limb ischemia (LI).", "output": {"entities": {"gene": [{"text": "EZH2", "start": 19, "end": 23}], "disease": [{"text": "ischemia", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The association of prolactin receptor expression with breast tumorigenesis remains unclear as studies that have focused on this association have had limited sample size and/or information about tumor characteristics.", "output": {"entities": {"gene": [{"text": "prolactin receptor", "start": 19, "end": 37}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The human paracaspase prodomain binds Bcl10, a protein involved in the t (1; 14) (p22; q32) translocation of mucosa-associated lymphoid tissue (MALT) lymphoma.", "output": {"entities": {"gene": [{"text": "paracaspase", "start": 10, "end": 21}], "disease": [{"text": "translocation", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "NEF3", "start": 186, "end": 190}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NEF3", "start": 186, "end": 190}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Furthermore, on ischemia/reperfusion, the oligomerization pattern of Hsp20 appeared to shift to higher aggregates in Hsp20 (S16A) hearts.", "output": {"entities": {"gene": [{"text": "Hsp20", "start": 69, "end": 74}], "disease": [{"text": "ischemia", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "No significant differences in mRNA levels of c-fos, N-myc, N-ras, Ha-ras, c-erbA, c-erbB and c-abl were observed among the HCC, cirrhosis and normal-chronic hepatitis groups.", "output": {"entities": {"gene": [{"text": "c-fos", "start": 45, "end": 50}], "disease": [{"text": "chronic hepatitis", "start": 149, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.", "output": {"entities": {"gene": [{"text": "nucleoporin NUP88", "start": 23, "end": 40}], "disease": [{"text": "fetal akinesia deformation sequence", "start": 54, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "nucleoporin NUP88", "start": 23, "end": 40}, "tail": {"text": "fetal akinesia deformation sequence", "start": 54, "end": 89}}]}}, "schema": []}
{"input": "Association between the SLC6A12 gene and negative symptoms of schizophrenia in a Korean population.", "output": {"entities": {"gene": [{"text": "SLC6A12", "start": 24, "end": 31}], "disease": [{"text": "schizophrenia", "start": 62, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC6A12", "start": 24, "end": 31}, "tail": {"text": "schizophrenia", "start": 62, "end": 75}}]}}, "schema": []}
{"input": "We analyzed the expression of apoptotic genes such as BAX, CASP1, FAS, FAS L, FOS, MDM2, NFkB2, P53, PCNA, TERT, and XRCC1 in coronary plaques collected with directional coronary atherectomy from 15 patients with stable angina and 15 with acute coronary syndromes without ST elevation (ACS).", "output": {"entities": {"gene": [{"text": "FOS", "start": 78, "end": 81}], "disease": [{"text": "stable angina", "start": 213, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "The segregation of these mutations with disease alleles in 4 and 2 families, respectively, supports the hypothesis that multiple mutations at the phenylalanine hydroxylase locus explain the variable phenylalanine tolerance in patients with phenylalanine hydroxylase deficiency.", "output": {"entities": {"gene": [{"text": "phenylalanine hydroxylase", "start": 146, "end": 171}], "disease": [{"text": "phenylalanine hydroxylase deficiency", "start": 240, "end": 276}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "phenylalanine hydroxylase", "start": 146, "end": 171}, "tail": {"text": "phenylalanine hydroxylase deficiency", "start": 240, "end": 276}}]}}, "schema": []}
{"input": "The available clinical records, including those referring to four UBE3B mutation-positive subjects recently described as belonging to a previously unreported entity, which fits KOS, document the clinical homogeneity of this disorder.", "output": {"entities": {"gene": [{"text": "UBE3B", "start": 66, "end": 71}], "disease": [{"text": "KOS", "start": 177, "end": 180}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBE3B", "start": 66, "end": 71}, "tail": {"text": "KOS", "start": 177, "end": 180}}]}}, "schema": []}
{"input": "Our work shows that similar to the commoner Type 1 Kabuki syndrome (KS1, MIM 147920) caused by KMT2D (previously called MLL2) mutations, KS2 patients are characterized by hypotonia and feeding difficulties during infancy and poor postnatal growth and short stature.", "output": {"entities": {"gene": [{"text": "KS1", "start": 68, "end": 71}], "disease": [{"text": "short stature", "start": 251, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "In concordance, the increased mRNA levels of BNP and VEGF but not ANP were found on culturing AC16 cells under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 53, "end": 57}], "disease": [{"text": "hypoxic", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Isolated invasive fungal infections of unclear cellular basis are associated with CARD9 deficiency, whereas a broad range of clinical manifestations, including those characteristic of T-and B-lymphocyte defects, are associated with CARD11, MALT1, and BCL10 deficiencies.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 240, "end": 245}], "disease": [{"text": "invasive fungal infections", "start": 9, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives.", "output": {"entities": {"gene": [{"text": "Zic5", "start": 6, "end": 10}], "disease": [{"text": "neural tube defects", "start": 33, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Zic5", "start": 6, "end": 10}, "tail": {"text": "neural tube defects", "start": 33, "end": 52}}]}}, "schema": []}
{"input": "The correlations of vital capacity (VC) and diffusing capacity for carbon monoxide (DL (CO)), bronchoalveolar lavage (BAL) fluid cell counts and high resolution computed tomography (HRCT) alveolar and interstitial scores with different genotypes of IL-4 at (-1098), (-590) and (-33) positions and IL-1 alpha at (-889) position were tested.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 249, "end": 253}], "disease": [{"text": "vital capacity", "start": 20, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The exon 7 [840 (CGT--> CAT), 855 (CGC--> CAC)] was showing micropenis and severe hypospadias.", "output": {"entities": {"gene": [{"text": "CAC", "start": 42, "end": 45}], "disease": [{"text": "hypospadias", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.", "output": {"entities": {"gene": [{"text": "fibrillin-2", "start": 10, "end": 21}], "disease": [{"text": "congenital contractural arachnodactyly", "start": 35, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fibrillin-2", "start": 10, "end": 21}, "tail": {"text": "congenital contractural arachnodactyly", "start": 35, "end": 73}}]}}, "schema": []}
{"input": "Our results suggest that MCHR1 may influence schizophrenia susceptibility, in particular among men and patients responding to conventional (nonclozapine) treatment.", "output": {"entities": {"gene": [{"text": "MCHR1", "start": 25, "end": 30}], "disease": [{"text": "schizophrenia", "start": 45, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCHR1", "start": 25, "end": 30}, "tail": {"text": "schizophrenia", "start": 45, "end": 58}}]}}, "schema": []}
{"input": "The trend of reduced p27 expression in microinvasive and invasive carcinomas suggests that down-regulation of p27 expression is strongly linked to neoplastic transformation of cervical epithelium, and inactivation of p27 may be an early event in cervical carcinogenesis.", "output": {"entities": {"gene": [{"text": "p27", "start": 21, "end": 24}], "disease": [{"text": "neoplastic transformation", "start": 147, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "ROCK2 maps to chromosome 2p25, which we have implicated previously in a linkage study of pre-eclampsia.", "output": {"entities": {"gene": [{"text": "ROCK2", "start": 0, "end": 5}], "disease": [{"text": "pre-eclampsia", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to investigate the influence of genetic variants in CRHR1, CRHR2, CRH-BP and FKBP5 genes on both the vulnerability for depression and the response to antidepressant treatment.", "output": {"entities": {"gene": [{"text": "CRH-BP", "start": 78, "end": 84}], "disease": [{"text": "depression", "start": 131, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRH-BP", "start": 78, "end": 84}, "tail": {"text": "depression", "start": 131, "end": 141}}]}}, "schema": []}
{"input": "In human colorectal adenoma and carcinoma cell lines, downregulation of β-catenin resulted in lower total DR4 and DR5 protein levels.", "output": {"entities": {"gene": [{"text": "DR5", "start": 114, "end": 117}], "disease": [{"text": "colorectal adenoma", "start": 9, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We genotyped tagSNPs in several genes (ADIPOQ, PRKAA1, PRKAA2, PRKAB1, PRKAG1, PRKAG2, PRKAG3, FTO and FABP3) that regulate lipid and energy homeostasis for their possible association to antipsychotic-induced weight gain.", "output": {"entities": {"gene": [{"text": "PRKAA2", "start": 55, "end": 61}], "disease": [{"text": "weight gain", "start": 209, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Here we show that human IDH mutant gliomas exhibit hypermethylation at cohesin and CCCTC-binding factor (CTCF)-binding sites, compromising binding of this methylation-sensitive insulator protein.", "output": {"entities": {"gene": [{"text": "CTCF", "start": 105, "end": 109}], "disease": [{"text": "gliomas", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.", "output": {"entities": {"gene": [{"text": "PIEZO1", "start": 45, "end": 51}], "disease": [{"text": "hereditary xerocytosis", "start": 72, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIEZO1", "start": 45, "end": 51}, "tail": {"text": "hereditary xerocytosis", "start": 72, "end": 94}}]}}, "schema": []}
{"input": "By inhibiting AKT and human kinase interacting stathmin (hKIS), trastuzumab blocks Thr157-, Thr198-and Ser10-induced p27Kip1 translocation from the nucleus to the cytosol, which increases the inhibitory effect of p27Kip1.", "output": {"entities": {"gene": [{"text": "p27Kip1", "start": 117, "end": 124}], "disease": [{"text": "translocation", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Therefore, CRF (2) agonists appear to have both bronchorelaxant and anti-inflammatory activities and might represent an interesting therapeutic approach to the treatment of inflammatory lung diseases.", "output": {"entities": {"gene": [{"text": "CRF (2", "start": 11, "end": 17}], "disease": [{"text": "lung diseases", "start": 186, "end": 199}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CRF (2", "start": 11, "end": 17}, "tail": {"text": "lung diseases", "start": 186, "end": 199}}]}}, "schema": []}
{"input": "Biopsied lung tumor was diagnosed as tubular adenocarcinoma, and CK7 (+)/CK20 (+)/Cdx-2 (-).", "output": {"entities": {"gene": [{"text": "CK7", "start": 65, "end": 68}], "disease": [{"text": "lung tumor", "start": 9, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Measles virus induces oncolysis of mesothelioma cells and allows dendritic cells to cross-prime tumor-specific CD8 response.", "output": {"entities": {"gene": [{"text": "CD8", "start": 111, "end": 114}], "disease": [{"text": "oncolysis", "start": 22, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "In 2 of the 12 advanced cancers, abnormalities of the E-cadherin gene were observed in intramucosal lesions as well as in deeply invaded areas.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 54, "end": 64}], "disease": [{"text": "abnormalities", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Perforin and granzyme B lytic protein expression during chronic viral and autoimmune hepatitis.", "output": {"entities": {"gene": [{"text": "granzyme B", "start": 13, "end": 23}], "disease": [{"text": "autoimmune hepatitis", "start": 74, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, treating hepatoma cells with anti-cancer cytotoxic agents results in a robust induction of peroxisome proliferator-activated receptor-gamma coactivator-1α (PGC-1α), a metabolic and energy regulator that is normally induced in the liver under starvation conditions and that has been previously shown to strongly coactivate HBV transcription.", "output": {"entities": {"gene": [{"text": "PGC-1α", "start": 171, "end": 177}], "disease": [{"text": "starvation", "start": 257, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "DIM-D-UltraFLEX-Nano pretreatment delayed the onset of UVB-induced tumorigenesis (2 weeks) and reduced (p < 0. 05) the number of tumors observed in SKH-1 mice (3. 33-fold), which was comparable to pretreatment with sunscreen (SPF30).", "output": {"entities": {"gene": [{"text": "SPF30", "start": 226, "end": 231}], "disease": [{"text": "tumorigenesis", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "T cells in Il27ra (-/-) mice accumulate preferentially in the lung parenchyma within close proximity to Mtb, and antigen-specific CD4 + T cells lacking IL-27R are intrinsically more fit than intact T cells and maintain IL-2 production.", "output": {"entities": {"gene": [{"text": "CD4", "start": 130, "end": 133}], "disease": [{"text": "fit", "start": 182, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Doxorubicin increased the binding of HMGB1 to heat shock factor 2 and enhanced heat shock element promoter activity.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 37, "end": 42}], "disease": [{"text": "shock", "start": 51, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We explored possible interactions with body mass index and components in the IGF-1 pathway including IGFBP3, PI3k, and PTEN but none of these factors influenced the relation between IRS-1 genotype and prostate cancer risk.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 101, "end": 107}], "disease": [{"text": "body mass index", "start": 39, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "As only this patient had unilateral renal hypoplasia among the three cases, this would suggest the existence of KAL1 gene mutation in this abnormality.", "output": {"entities": {"gene": [{"text": "KAL1 gene", "start": 112, "end": 121}], "disease": [{"text": "unilateral renal hypoplasia", "start": 25, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We found that C1orf61 is up-regulated in hepatic cirrhosis tissues and is further up-regulated in primary HCC tumors.", "output": {"entities": {"gene": [{"text": "C1orf61", "start": 14, "end": 21}], "disease": [{"text": "hepatic cirrhosis", "start": 41, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Using a human-scid model of IBC (MARY-X), we have demonstrated using retrovirally-mediated dominant-negative E-cadherin mutant approaches (H-2K (d)-E-cad), that the tumor cell embolus (IBC spheroid) forms on the basis of an intact and overexpressed E-cadherin/alpha, beta-catenin axis which mediates tumor cell-tumor cell adhesion analogous to the embryonic blastocyst and accounts for the compactness of the embolus.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 109, "end": 119}], "disease": [{"text": "scid", "start": 14, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "In accord with the array data, silencing of SS18-SSX1 enhances adhesion to the extracellular matrix through the induction of expression of myosin light-chain kinase.", "output": {"entities": {"gene": [{"text": "SSX1", "start": 49, "end": 53}], "disease": [{"text": "adhesion", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Recent findings indicate an accumulation of TSC1 polymorphisms as well as loss of heterozygosity (LOH) and/or microsatellite instability (MSI) at the TSC1 locus on chromosome 9q in FCD IIb.", "output": {"entities": {"gene": [{"text": "TSC1", "start": 44, "end": 48}], "disease": [{"text": "microsatellite instability", "start": 110, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "To test this hypothesis, we investigated the interaction between tagging polymorphisms in the UCP2 gene (rs2306819, rs599277 and rs659366), alcohol intake and obesity traits such as BMI and waist circumference (WC) on alanine aminotransferase (ALT) and gamma glutamyl transferase (GGT) in a large meta-analysis of data sets from three populations (n = 20 242).", "output": {"entities": {"gene": [{"text": "alanine aminotransferase", "start": 218, "end": 242}], "disease": [{"text": "alcohol intake", "start": 140, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "MMR deficiencies were detected in 119 of the 1222 CRC patients with tumors showing either microsatellite instability (n = 111) or loss of protein expression (n = 81).", "output": {"entities": {"gene": [{"text": "MMR", "start": 0, "end": 3}], "disease": [{"text": "microsatellite instability", "start": 90, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Through the decrease of HGMB1 and the regulation of RAGE, PA reversed the EMT, inhibited HLF-1 proliferation as well as reduced apoptosis in AT I, and prevented pulmonary fibrosis in vivo.", "output": {"entities": {"gene": [{"text": "HLF", "start": 89, "end": 92}], "disease": [{"text": "pulmonary fibrosis", "start": 161, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Ligation of CD40 on atheroma-associated cells in vitro activates the production of chemokines, cytokines, matrix metalloproteinases, adhesion molecules and tissue factor, substances responsible for lesion progression and plaque destabilization.", "output": {"entities": {"gene": [{"text": "CD40", "start": 12, "end": 16}], "disease": [{"text": "atheroma", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "This study is the first intense characterization of pre-miR-886 as well as the initial report on its function as a PKR regulator, which suggests a critical role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "pre-miR-886", "start": 52, "end": 63}], "disease": [{"text": "tumorigenesis", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In order to precisely localize the susceptible locus for cardiac sarcoidosis within the HLA region, genetic polymorphisms of classical HLA genes, non-classical HLA class II genes such as HLA-DMA and-DMB genes and several genes involved in the class I-mediated antigen presentation pathway (TAP1, TAP2, LMP2 and LMP7) were investigated.", "output": {"entities": {"gene": [{"text": "TAP1", "start": 290, "end": 294}], "disease": [{"text": "cardiac sarcoidosis", "start": 57, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Paclitaxel induces multiple arms of the endoplasmic reticulum stress response, including upregulation of the 78-kDa glucose-regulatory protein (GRP78) and eukaryotic initiation factor alpha phosphorylation.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 144, "end": 149}], "disease": [{"text": "arms", "start": 28, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "First, we determined the basal expression levels of Bcl-2 and Bcl-xL in mesothelioma cells and examined the effect of their downregulation by antisense oligonucleotides.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 62, "end": 68}], "disease": [{"text": "mesothelioma", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the review describes different ataxic spontaneous cacna1a mouse mutants and the important insights into the cerebellar mechanisms underlying motor dysfunction caused by mutant CaV2. 1 channels that were obtained from their functional characterization.", "output": {"entities": {"gene": [{"text": "CaV2. 1", "start": 186, "end": 193}], "disease": [{"text": "motor dysfunction", "start": 151, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "No significant association of iNOS genotypes with stenosis and atherosclerosis of RCA and LCX was found.", "output": {"entities": {"gene": [{"text": "LCX", "start": 90, "end": 93}], "disease": [{"text": "atherosclerosis", "start": 63, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Much of this can be attributed to the apparent similarities in the molecular processes regulating embryonic EMT that can be recapitulated during tumor progression and metastasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 108, "end": 111}], "disease": [{"text": "tumor progression", "start": 145, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms.", "output": {"entities": {"gene": [{"text": "ACTA2", "start": 29, "end": 34}], "disease": [{"text": "MMD", "start": 93, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACTA2", "start": 29, "end": 34}, "tail": {"text": "MMD", "start": 93, "end": 96}}]}}, "schema": []}
{"input": "The chromosomal translocation t (14; 18) in lymphoma leads to an overproduction of the Bcl-2 protein on the basis of increased Bcl-2 mRNA levels.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 87, "end": 92}], "disease": [{"text": "chromosomal translocation", "start": 4, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "These results suggested that activated Ki-Ras will be one of the factors contributing to the overexpression of epiregulin in human colon cancer cells, and that epiregulin will play a critical role in human tumorigenesis in vivo.", "output": {"entities": {"gene": [{"text": "epiregulin", "start": 111, "end": 121}], "disease": [{"text": "tumorigenesis", "start": 206, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we utilized immunohistochemistry and FISH to study INI1 expression and 22q dosages, respectively, in 40 composite rhabdoid tumors, including 16 meningiomas, 15 carcinomas, three melanomas, two sarcomas, two glioblastomas, and 1 neuroblastoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 48, "end": 52}], "disease": [{"text": "neuroblastoma", "start": 239, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "We carried out a large scale case-control study to test the association between FGFR2 and three major psychiatric disorders: SCZ, BPD and major depressive disorder (MDD) in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 80, "end": 85}], "disease": [{"text": "SCZ", "start": 125, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR2", "start": 80, "end": 85}, "tail": {"text": "SCZ", "start": 125, "end": 128}}]}}, "schema": []}
{"input": "In the unaffected individuals (patients' relatives and healthy controls) we observed an association of KIBRA with immediate and delayed logical memory (p = 0. 020 and 0. 025, respectively), while in patients with psychosis with delayed visual memory (p = 0. 05).", "output": {"entities": {"gene": [{"text": "KIBRA", "start": 103, "end": 108}], "disease": [{"text": "psychosis", "start": 213, "end": 222}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KIBRA", "start": 103, "end": 108}, "tail": {"text": "psychosis", "start": 213, "end": 222}}]}}, "schema": []}
{"input": "Thus, ABCC6 mutations account for a significant subset of GACI patients, and ENPP1 mutations can also be associated with PXE lesions in school-aged children.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 6, "end": 11}], "disease": [{"text": "GACI", "start": 58, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 6, "end": 11}, "tail": {"text": "GACI", "start": 58, "end": 62}}]}}, "schema": []}
{"input": "Enhanced RASSF4 expression promoted cell cycle progression, senescence evasion, and tumorigenesis through inhibition of the Hippo pathway tumor suppressor MST1.", "output": {"entities": {"gene": [{"text": "MST1", "start": 155, "end": 159}], "disease": [{"text": "tumorigenesis", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "They are characterized by high histological grade (87%), no definite expression of BCL2 or CD10 and several kinds of gene aberrances including Bcl2 translocation, Bcl6 translocation, Bcl2 amplification or other unknown gene abnormality.", "output": {"entities": {"gene": [{"text": "Bcl2", "start": 143, "end": 147}], "disease": [{"text": "translocation", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Our data support the notion that CCR3, CCR7, and CXCR4 are increasingly expressed in tumor cells from PTC and that CXCR4 expression in PTC could be a potential marker for enhanced tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 33, "end": 37}], "disease": [{"text": "aggressiveness", "start": 186, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Phenotypically our study indicated a statistically significant difference in the presence of a distinct facial appearance (p = 0. 0143) and growth retardation (p = 0. 0040) when comparing KS patients with an MLL2 mutation compared to patients without a mutation.", "output": {"entities": {"gene": [{"text": "MLL2", "start": 208, "end": 212}], "disease": [{"text": "growth retardation", "start": 140, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The parents (both of Irish background) were heterozygotes for the G307S allele, while an asymptomatic sibling had normal CBS sequence, Plasma homocysteine, assessed after an oral methionine load, indicated the mother clearly had moderate hyperhomocysteinaemia, whereas the father had normal concentrations of homocysteine.", "output": {"entities": {"gene": [{"text": "CBS", "start": 121, "end": 124}], "disease": [{"text": "asymptomatic", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The carriers of XLRP who had evidence of photoreceptor cell dysfunction (as determined by visual field loss and reduced ERG amplitudes) had increased levels of intraocular straylight, whereas the carriers of CHM, who showed fundus abnormalities alone, in the absence of demonstrable photoreceptor cell dysfunction, had normal or minimally elevated levels.", "output": {"entities": {"gene": [{"text": "ERG", "start": 120, "end": 123}], "disease": [{"text": "abnormalities", "start": 231, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "The present study was undertaken to analyze the relation between microsatellite instability (MSI) and germline mutations of MMR genes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 124, "end": 127}], "disease": [{"text": "microsatellite instability", "start": 65, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The following study describes the discovery of a new inherited metabolic disorder, dolichol kinase (DK1) deficiency.", "output": {"entities": {"gene": [{"text": "dolichol kinase", "start": 83, "end": 98}], "disease": [{"text": "DK1) deficiency", "start": 100, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dolichol kinase", "start": 83, "end": 98}, "tail": {"text": "DK1) deficiency", "start": 100, "end": 115}}]}}, "schema": []}
{"input": "In addition to utility as a diagnostic tool, we applied this technique to gene discovery in DBA, resulting in the identification of RPL31 as a novel DBA gene.", "output": {"entities": {"gene": [{"text": "RPL31", "start": 132, "end": 137}], "disease": [{"text": "DBA", "start": 92, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RPL31", "start": 132, "end": 137}, "tail": {"text": "DBA", "start": 92, "end": 95}}]}}, "schema": []}
{"input": "The identification of two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome.", "output": {"entities": {"gene": [{"text": "PDS", "start": 35, "end": 38}], "disease": [{"text": "Pendred syndrome", "start": 92, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDS", "start": 35, "end": 38}, "tail": {"text": "Pendred syndrome", "start": 92, "end": 108}}]}}, "schema": []}
{"input": "Two models of diabetic complications were used to determine the role of PARP in oxidative stress, cardiac hypertrophy and fibrosis in the heart.", "output": {"entities": {"gene": [{"text": "PARP", "start": 72, "end": 76}], "disease": [{"text": "diabetic complications", "start": 14, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that hepatic cystogenesis in autosomal recessive polycystic kidney disease may involve increased fluid accumulation because of overexpression and abnormal location of AQP1, CFTR, and AE2 in cystic cholangiocytes.", "output": {"entities": {"gene": [{"text": "AQP1", "start": 184, "end": 188}], "disease": [{"text": "autosomal recessive polycystic kidney disease", "start": 46, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AQP1", "start": 184, "end": 188}, "tail": {"text": "autosomal recessive polycystic kidney disease", "start": 46, "end": 91}}]}}, "schema": []}
{"input": "Pretreatment with polymyxin B prevented against acute pancreatitis-induced lung injury and the otherwise occurring increases in TNF-alpha, IL-1beta, MCP-1 and IL-10, as well as against the decreases in IL-2, IFNgamma and TIMP-1, decreased protease activity and down-regulation of CD31, CD54 and CD62L on recruited neutrophils and macrophages in BALF.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 202, "end": 206}], "disease": [{"text": "acute pancreatitis", "start": 48, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Expression of TNF-α, NGF, substance P-immunoreactive nerves and tachykinin NK1 receptors was enhanced, peaking at 28 h, 7 days, 14 days and 14 days after LPS inhalation, respectively.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 14, "end": 19}], "disease": [{"text": "inhalation", "start": 158, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The identification of extracellular matrix (ECM) proteins, cell-surface receptors, cell-surface adhesion molecules and growth factors among substrates, clearly support the driving role of KLK abnormal expression and function during tumorigenesis and cancer progression.", "output": {"entities": {"gene": [{"text": "ECM", "start": 44, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 232, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Hypertriglyceridemia (HTG) is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG) metabolism has been described, including LPL, APOA5 and APOE.", "output": {"entities": {"gene": [{"text": "LPL", "start": 227, "end": 230}], "disease": [{"text": "cardiovascular disease", "start": 77, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Moreover, chromatin immunoprecipitation assays demonstrated an increased association of β-catenin with the proximal promoter of microphthalmia-associated transcription factor, the master regulator of pigmentation.", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 88, "end": 97}], "disease": [{"text": "pigmentation", "start": 200, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the D22S258, CRYBA4, D22S300, D22S1, and D22S310 loci, which lie between CRYBB2 and D22S42, were found to be deleted, presumably as a result of the translocation event.", "output": {"entities": {"gene": [{"text": "CRYBB2", "start": 83, "end": 89}], "disease": [{"text": "translocation", "start": 158, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Thus, the p27CK-mouse unveils a dual role for p27 during tumorigenesis: It is a tumor suppressor by virtue of its cyclin-CDK regulatory function, and also an oncogene through a cyclin-CDK-independent function.", "output": {"entities": {"gene": [{"text": "p27", "start": 10, "end": 13}], "disease": [{"text": "tumorigenesis", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In summary, these results demonstrate that biallelic SUN5 mutations cause male infertility due to autosomal-recessive acephalic spermatozoa syndrome.", "output": {"entities": {"gene": [{"text": "SUN5", "start": 53, "end": 57}], "disease": [{"text": "acephalic spermatozoa syndrome", "start": 118, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUN5", "start": 53, "end": 57}, "tail": {"text": "acephalic spermatozoa syndrome", "start": 118, "end": 148}}]}}, "schema": []}
{"input": "Therefore, DNA from nodular and quiescent surrounding tissue of six patients with toxic multinodular goiters was screened for mutations in exons 9 and 10 of the TSHR gene and exons 7-10 of the Gs alpha gene by direct automated sequencing.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 196, "end": 206}], "disease": [{"text": "goiters", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, cartonectin showed a significant negative association with body mass index, waist to hip ratio, glucose, insulin, total cholesterol, low-density lipoprotein-cholesterol, triglycerides, High sensitivity C-reactive protein (hs-CRP) and intima-media thickness (P <. 05 and P <. 01, respectively); in multiple regression analyses, triglycerides (P =. 040) and hs-CRP (P =. 031) were predictive of cartonectin levels (P <. 05).", "output": {"entities": {"gene": [{"text": "cartonectin", "start": 13, "end": 24}], "disease": [{"text": "body mass index", "start": 72, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, GLP-1-centered gene therapy not only improved insulin sensitivity, but also reduced abdominal and/or hepatic fat associated with obesity-induced T2DM with drastic alterations in adipokine profiles in treated subjects.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 13, "end": 18}], "disease": [{"text": "insulin sensitivity", "start": 59, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Similarly, intrathecal IL-1ra administered after the establishment of morphine tolerance reversed hyperalgesia and prevented the additional development of tolerance and allodynia.", "output": {"entities": {"gene": [{"text": "IL-1ra", "start": 23, "end": 29}], "disease": [{"text": "hyperalgesia", "start": 98, "end": 110}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-1ra", "start": 23, "end": 29}, "tail": {"text": "hyperalgesia", "start": 98, "end": 110}}]}}, "schema": []}
{"input": "As a result of this translocation the SYT gene on chromosome 18 fuses to either the SSX1 or the SSX2 gene on the X chromosome.", "output": {"entities": {"gene": [{"text": "SSX2 gene", "start": 96, "end": 105}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial PSIS.", "output": {"entities": {"gene": [{"text": "LHX4", "start": 79, "end": 83}], "disease": [{"text": "PSIS", "start": 119, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LHX4", "start": 79, "end": 83}, "tail": {"text": "PSIS", "start": 119, "end": 123}}]}}, "schema": []}
{"input": "We also note the possibility that some human craniofacial abnormalities are due to a lack of basonuclin 2.", "output": {"entities": {"gene": [{"text": "basonuclin 2", "start": 93, "end": 105}], "disease": [{"text": "craniofacial abnormalities", "start": 45, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "basonuclin 2", "start": 93, "end": 105}, "tail": {"text": "craniofacial abnormalities", "start": 45, "end": 71}}]}}, "schema": []}
{"input": "By PCR, the t (14; 18) translocation was identified in five cases (15%), four of which were positive for CD10 and bcl2 and all of which were positive for bcl6.", "output": {"entities": {"gene": [{"text": "bcl2", "start": 114, "end": 118}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.", "output": {"entities": {"gene": [{"text": "ASL", "start": 106, "end": 109}], "disease": [{"text": "Argininosuccinate lyase deficiency", "start": 0, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASL", "start": 106, "end": 109}, "tail": {"text": "Argininosuccinate lyase deficiency", "start": 0, "end": 34}}]}}, "schema": []}
{"input": "Finally, we demonstrate that 5-HT (2B) receptors are overexpressed in hearts from patients with congestive heart failure, this overexpression being positively correlated with cytokine and norepinephrine plasma levels.", "output": {"entities": {"gene": [{"text": "5-HT (2B", "start": 29, "end": 37}], "disease": [{"text": "congestive heart failure", "start": 96, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (2B", "start": 29, "end": 37}, "tail": {"text": "congestive heart failure", "start": 96, "end": 120}}]}}, "schema": []}
{"input": "Explicit role of peroxisome proliferator-activated receptor gamma in gallic acid-mediated protection against ischemia-reperfusion-induced acute kidney injury in rats.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor gamma", "start": 17, "end": 65}], "disease": [{"text": "acute kidney injury", "start": 138, "end": 157}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "peroxisome proliferator-activated receptor gamma", "start": 17, "end": 65}, "tail": {"text": "acute kidney injury", "start": 138, "end": 157}}]}}, "schema": []}
{"input": "Translin recognition site sequences flank chromosome translocation breakpoints in alveolar rhabdomyosarcoma cell lines.", "output": {"entities": {"gene": [{"text": "Translin", "start": 0, "end": 8}], "disease": [{"text": "alveolar rhabdomyosarcoma", "start": 82, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The MUC18 mRNA and protein was expressed in three metastatic prostate cancer cell lines (TSU-PR1, DU145, and PC-3), but not in one non-metastatic prostate cancer cell line (LNCaP. FGC).", "output": {"entities": {"gene": [{"text": "MUC18", "start": 4, "end": 9}], "disease": [{"text": "metastatic prostate cancer", "start": 50, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In strong support of the idea that Hoxa1 and Hoxb1 have overlapping functions, Hoxa1/Hoxb1 double mutant homozygotes exhibit a plethora of defects either not seen, or seen only in a very mild form, in mice mutant for only Hoxa1 or Hoxb1.", "output": {"entities": {"gene": [{"text": "Hoxa1", "start": 35, "end": 40}], "disease": [{"text": "plethora", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Herein, we show that the miR-200ba429 and miR-200c141 transcripts undergo a dynamic epigenetic regulation linked to EMT or MET phenotypes in tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 116, "end": 119}], "disease": [{"text": "tumor progression", "start": 141, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Importantly, EWS FISH is negative in malignant melanoma, a clinically dissimilar tumor, which may closely mimic clear cell sarcoma histologically and immunohistochemically.", "output": {"entities": {"gene": [{"text": "FISH", "start": 17, "end": 21}], "disease": [{"text": "clear cell sarcoma", "start": 112, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we identified four additional ANKS6 variants in a cohort of 56 unrelated patients diagnosed with CKD due to nephronophthisis, chronic GN, interstitial nephritis, or unknown etiology.", "output": {"entities": {"gene": [{"text": "ANKS6", "start": 43, "end": 48}], "disease": [{"text": "interstitial nephritis", "start": 151, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Mutations of another MMR gene, MSH6, seem to be less common than MLH1 and MSH2 defects, and have been mostly observed in atypical HNPCC families, characterized by a weaker tumor family history, higher age at disease onset, and low degrees of microsatellite instability (MSI), predominantly involving mononucleotide runs.", "output": {"entities": {"gene": [{"text": "MMR", "start": 21, "end": 24}], "disease": [{"text": "microsatellite instability", "start": 242, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "These results may indicate that IL-12 induces IFN-gamma expression and subsequent Th1 dominant condition in Japanese patients with sarcoidosis.", "output": {"entities": {"gene": [{"text": "Th1", "start": 82, "end": 85}], "disease": [{"text": "sarcoidosis", "start": 131, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The role of ANXA2 in various liver diseases including HCC remains obscure.", "output": {"entities": {"gene": [{"text": "HCC", "start": 54, "end": 57}], "disease": [{"text": "liver diseases", "start": 29, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Retinol/ethanol drug interaction during acute alcohol intoxication in mice involves inhibition of retinol metabolism to retinoic acid by alcohol dehydrogenase.", "output": {"entities": {"gene": [{"text": "alcohol dehydrogenase", "start": 137, "end": 158}], "disease": [{"text": "acute alcohol intoxication", "start": 40, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alcohol dehydrogenase", "start": 137, "end": 158}, "tail": {"text": "acute alcohol intoxication", "start": 40, "end": 66}}]}}, "schema": []}
{"input": "Isolated BMACs from TSP-1-knockout mice demonstrated improved tube formation, migration, and adhesion in parallel with active SHH signaling.", "output": {"entities": {"gene": [{"text": "TSP-1", "start": 20, "end": 25}], "disease": [{"text": "adhesion", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the genetic polymorphism of the immunoproteasome subunits LMP2 and LMP7 and of the transporters associated with antigen processing (TAP1 and TAP2) in two independently collected panels of colorectal carcinoma patients (N (1) = 112, N (2) = 62; controls, N = 165).", "output": {"entities": {"gene": [{"text": "TAP2", "start": 153, "end": 157}], "disease": [{"text": "colorectal carcinoma", "start": 200, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "CSE activity and protein levels in the colonic tissue did not notably change in the mice with colitis.", "output": {"entities": {"gene": [{"text": "CSE", "start": 0, "end": 3}], "disease": [{"text": "colitis", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene encoding the fused in sarcoma (FUS) protein are responsible for ~ 3% of familial amyotrophic lateral sclerosis (ALS) and < 1% of sporadic ALS (ALS-FUS).", "output": {"entities": {"gene": [{"text": "FUS", "start": 53, "end": 56}], "disease": [{"text": "sporadic", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.", "output": {"entities": {"gene": [{"text": "OCTN2", "start": 13, "end": 18}], "disease": [{"text": "carnitine deficiency", "start": 116, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCTN2", "start": 13, "end": 18}, "tail": {"text": "carnitine deficiency", "start": 116, "end": 136}}]}}, "schema": []}
{"input": "In vitro and in vivo gain-of-function and loss-of-function experiments indicate that SChLAP1 is critical for cancer cell invasiveness and metastasis.", "output": {"entities": {"gene": [{"text": "SChLAP1", "start": 85, "end": 92}], "disease": [{"text": "metastasis", "start": 138, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SChLAP1", "start": 85, "end": 92}, "tail": {"text": "metastasis", "start": 138, "end": 148}}]}}, "schema": []}
{"input": "Showing moderate hearing loss with asymptomatic variable vestibular dysfunction and no retinal degeneration, the DFNA11 phenotype is mildest among phenotypes caused by MYO7A mutations.", "output": {"entities": {"gene": [{"text": "MYO7A", "start": 168, "end": 173}], "disease": [{"text": "asymptomatic", "start": 35, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The NciI genotypes were not significantly associated with age of the individuals, serum (s)-calcium, s-parathyroid hormone (PTH), bone mineral density (BMD) or parathyroid tumour weight in any of the groups of pHPT patients or controls.", "output": {"entities": {"gene": [{"text": "PTH", "start": 124, "end": 127}], "disease": [{"text": "bone mineral density", "start": 130, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Activation of EP1 receptors appears to be upstream, rather than downstream, of NMDA receptor activation and NO production in the PGE2-induced allodynia.", "output": {"entities": {"gene": [{"text": "EP1", "start": 14, "end": 17}], "disease": [{"text": "allodynia", "start": 142, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EP1", "start": 14, "end": 17}, "tail": {"text": "allodynia", "start": 142, "end": 151}}]}}, "schema": []}
{"input": "The prevalence rates of the platelet glycoprotein IIb/IIIa Leu33Pro allele (PLA2), and factor V G1691A Leiden mutation were determined in 109 appropriate for gestational age neonates with grade I intraventricular haemorrhage (IVH) and in 118 IVH-free control infants.", "output": {"entities": {"gene": [{"text": "platelet glycoprotein IIb", "start": 28, "end": 53}], "disease": [{"text": "haemorrhage", "start": 213, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Recent genetic studies have identified mutations in the C20orf54 gene, which encodes the human riboflavin (RF) transporter-2 (hRFT-2) and suggested their link to the manifestation of BVVLS.", "output": {"entities": {"gene": [{"text": "C20orf54", "start": 56, "end": 64}], "disease": [{"text": "BVVLS", "start": 183, "end": 188}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C20orf54", "start": 56, "end": 64}, "tail": {"text": "BVVLS", "start": 183, "end": 188}}]}}, "schema": []}
{"input": "Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.", "output": {"entities": {"gene": [{"text": "CLN8", "start": 34, "end": 38}], "disease": [{"text": "CLN8", "start": 80, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLN8", "start": 34, "end": 38}, "tail": {"text": "CLN8", "start": 80, "end": 84}}]}}, "schema": []}
{"input": "In cell culture, d12. CALP at low multiplicity of infection (0. 001 plaque-forming unit/cell) selectively killed calponin-positive human synovial sarcoma, leiomyosarcoma, and osteosarcoma cells.", "output": {"entities": {"gene": [{"text": "CALP", "start": 22, "end": 26}], "disease": [{"text": "plaque", "start": 68, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Thus, imatinib may be very effective for treating the early cardiac involvement of FIP1L1-PDGFRA-positive CEL, but it needs to be used cautiously.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 90, "end": 96}], "disease": [{"text": "CEL", "start": 106, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDGFRA", "start": 90, "end": 96}, "tail": {"text": "CEL", "start": 106, "end": 109}}]}}, "schema": []}
{"input": "We therefore analyzed a sample of 146 ADHD children and their parents, with a transmission disequilibrium test (TDT) design, assessing age, inattention, and hyperactivity dimensions and total score of the ADHD Rating Scale, the number of errors and the total score at Stroop Color-Word test, and the total score at the Trail Making Test.", "output": {"entities": {"gene": [{"text": "TDT", "start": 112, "end": 115}], "disease": [{"text": "inattention", "start": 140, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that local hypoxia could indirectly influence osteoclastogenesis via autocrine and paracrine secretion of VEGF under the control of HIF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 128, "end": 132}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "To investigate the molecular mechanisms of transcriptional activation by hypoxia (1% oxygen), fine mapping of a hypoxia-responsive region of the human VEGF promoter was carried out using luciferase reporter-gene constructs in C6 glioma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 151, "end": 155}], "disease": [{"text": "hypoxia", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that SPOP plays critical roles in suppressing gastric tumorigenesis through inhibiting Hh/Gli2 signaling pathway.", "output": {"entities": {"gene": [{"text": "Gli2", "start": 112, "end": 116}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Previously, we studied single-nucleotide polymorphisms present in the major genes in the PTH pathway (PTH, PTHrP, PTHR1, PTHR2) in relation to bone mineral density (BMD) and fracture incidence.", "output": {"entities": {"gene": [{"text": "PTH", "start": 89, "end": 92}], "disease": [{"text": "bone mineral density", "start": 143, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis.", "output": {"entities": {"gene": [{"text": "adenylate kinase 2", "start": 45, "end": 63}], "disease": [{"text": "reticular dysgenesis", "start": 100, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "adenylate kinase 2", "start": 45, "end": 63}, "tail": {"text": "reticular dysgenesis", "start": 100, "end": 120}}]}}, "schema": []}
{"input": "Regulated, adenovirus-mediated delivery of tyrosine hydroxylase suppresses growth of estrogen-induced pituitary prolactinomas.", "output": {"entities": {"gene": [{"text": "tyrosine hydroxylase", "start": 43, "end": 63}], "disease": [{"text": "adenovirus", "start": 11, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that the hyperemia caused by isoflurane resolves over time during stable 1 MAC isoflurane anesthesia.", "output": {"entities": {"gene": [{"text": "MAC", "start": 98, "end": 101}], "disease": [{"text": "hyperemia", "start": 32, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Mice harboring compound disruptions in the NPAS3 and related NPAS1 genes manifest behavioral and neuroanatomical abnormalities reminiscent of schizophrenia.", "output": {"entities": {"gene": [{"text": "NPAS1", "start": 61, "end": 66}], "disease": [{"text": "schizophrenia", "start": 142, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS1", "start": 61, "end": 66}, "tail": {"text": "schizophrenia", "start": 142, "end": 155}}]}}, "schema": []}
{"input": "The differential diagnosis includes Alexander' s disease, Canavan' s disease, glutaric aciduria type 1, GM1 and GM2 gangliosidosis, merosin-deficient variant of congenital muscular dystrophy and megalencephalic leukoencephalopathy with subcortical cysts (MLC).", "output": {"entities": {"gene": [{"text": "congenital muscular dystrophy", "start": 161, "end": 190}], "disease": [{"text": "megalencephalic leukoencephalopathy with subcortical cysts", "start": 195, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "This article investigated the expression of TF and PAR-2 in ectopic and eutopic endometrium with endometriosis and their relationship with the menstrual cycle.", "output": {"entities": {"gene": [{"text": "PAR", "start": 51, "end": 54}], "disease": [{"text": "endometriosis", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "To examine the role of the polymorphisms in the AR and PSA genes in prostate cancer susceptibility, we conducted a case-control study of Austrian Caucasians with 190 newly diagnosed prostate cancer patients and 190 age-matched control men with benign prostatic hyperplasia (BPH).", "output": {"entities": {"gene": [{"text": "PSA", "start": 55, "end": 58}], "disease": [{"text": "prostate cancer susceptibility", "start": 68, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The present study indicates that miR-885-5p suppresses the metastasis of HCC and inhibits Wnt/& #946;-catenin signaling pathway by its CTNNB1 target, which suggests that miR-885-5p to be a promising negative regulator of HCC progression and as a novel therapeutic agent to treat HCC.", "output": {"entities": {"gene": [{"text": "miR-885", "start": 33, "end": 40}], "disease": [{"text": "HCC", "start": 73, "end": 76}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-885", "start": 33, "end": 40}, "tail": {"text": "HCC", "start": 73, "end": 76}}]}}, "schema": []}
{"input": "Identification of rare LGI1 gene mutations in sporadic cases supports diagnosis as ADTLE and draws attention to potential familial clustering of ADTLE in suggestive generations, which is especially important for genetic counselling.", "output": {"entities": {"gene": [{"text": "LGI1 gene", "start": 23, "end": 32}], "disease": [{"text": "sporadic", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Impaired acrosomal reaction (IAR) of sperm causes male subfertility in humans and animals.", "output": {"entities": {"gene": [{"text": "IAR", "start": 29, "end": 32}], "disease": [{"text": "male subfertility", "start": 50, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "However, it was found that there was an association between the mbl2 AO/OO genotype and severe hepatitis B (SHB) or liver cirrhosis (LC) (LC vs. HC: OR = 3. 66, 95% CI, 2. 38-5. 63; SHB vs. HC, OR = 3. 88, 95% CI, 2. 26-6. 64), but there was no relationship between the mbl2 AO/OO genotype and hepatocellular carcinoma (HCC) (OR = 1. 26, 95% CI, 0. 82-1. 94).", "output": {"entities": {"gene": [{"text": "SHB", "start": 108, "end": 111}], "disease": [{"text": "liver cirrhosis", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Deposition of ECM was affected in heterozygous LH3 knock-out mouse embryonic fibroblasts (MEF (+/-)) and in skin fibroblasts collected from a member of a Finnish epidermolysis bullosa simplex (EBS) family known to be deficient in GGT activity.", "output": {"entities": {"gene": [{"text": "GGT", "start": 230, "end": 233}], "disease": [{"text": "epidermolysis bullosa simplex", "start": 162, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Liver biopsy specimens were collected from 71 patients with different outcomes of HBV infection, including 25 cases of chronic hepatitis B (CHB), 18 cases of severe hepatitis B (SHB), and 28 cases of liver cirrhosis (LC).", "output": {"entities": {"gene": [{"text": "SHB", "start": 178, "end": 181}], "disease": [{"text": "liver cirrhosis", "start": 200, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "The KCTD12 gene has been associated with bipolar disorder, major depressive disorder and schizophrenia.", "output": {"entities": {"gene": [{"text": "KCTD12", "start": 4, "end": 10}], "disease": [{"text": "schizophrenia", "start": 89, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCTD12", "start": 4, "end": 10}, "tail": {"text": "schizophrenia", "start": 89, "end": 102}}]}}, "schema": []}
{"input": "Important role of the LKB1-AMPK pathway in suppressing tumorigenesis in PTEN-deficient mice.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 22, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Methylprednisolone treatment significantly increased RGC apoptosis during MOG-EAE.", "output": {"entities": {"gene": [{"text": "MOG", "start": 74, "end": 77}], "disease": [{"text": "EAE", "start": 78, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MOG", "start": 74, "end": 77}, "tail": {"text": "EAE", "start": 78, "end": 81}}]}}, "schema": []}
{"input": "We also investigated the effect of IL-17 on myocardial fibrosis in this model.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 35, "end": 40}], "disease": [{"text": "myocardial fibrosis", "start": 44, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.", "output": {"entities": {"gene": [{"text": "TCF2", "start": 74, "end": 78}], "disease": [{"text": "type 2 diabetes", "start": 96, "end": 111}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TCF2", "start": 74, "end": 78}, "tail": {"text": "type 2 diabetes", "start": 96, "end": 111}}]}}, "schema": []}
{"input": "Since a mutation at cDNA nucleotide 2302 (2302insC) had been previously described, this region of the ATP7B gene may be susceptible to gene rearrangements causing Wilson disease.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 102, "end": 107}], "disease": [{"text": "Wilson disease", "start": 163, "end": 177}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 102, "end": 107}, "tail": {"text": "Wilson disease", "start": 163, "end": 177}}]}}, "schema": []}
{"input": "Mapping of translocation breakpoints using an acetylated histone H3 lysine 9 chromatin immunoprecipitation sequencing approach reveals Igh fusions up to ∼ 350 kb upstream of Myc or the related oncogene Mycn.", "output": {"entities": {"gene": [{"text": "oncogene Mycn", "start": 193, "end": 206}], "disease": [{"text": "translocation", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Studies using in vitro ischaemia-related models (hypoxia, glutamate) have produced conflicting results, with some showing that NCX activity is neuroprotective while others indicate that it is neurodamaging.", "output": {"entities": {"gene": [{"text": "NCX", "start": 127, "end": 130}], "disease": [{"text": "hypoxia", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We tested whether PON1 gene transfer using adenovirus provides protection against the toxicity of the OP diazoxon.", "output": {"entities": {"gene": [{"text": "PON1 gene", "start": 18, "end": 27}], "disease": [{"text": "adenovirus", "start": 43, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We aim to ask if this is true for all SH-HCC cases, or does the SH-HCC morphology in some cases reflect genetic changes inherent to the HCC itself, as opposed to wide tissue response in liver to the metabolic syndrome.", "output": {"entities": {"gene": [{"text": "HCC", "start": 41, "end": 44}], "disease": [{"text": "metabolic syndrome", "start": 199, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Syncytin-1, Syncytin-2 and erv-3 were specific to glandular epithelial cells of polyps, hyperplasia and EnCa using immunohistochemistry.", "output": {"entities": {"gene": [{"text": "Syncytin-2", "start": 12, "end": 22}], "disease": [{"text": "hyperplasia", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Our report expands the clinical spectrum of DYNC1H1-related SMA-LED to include generalized arthrogryposis.", "output": {"entities": {"gene": [{"text": "LED", "start": 64, "end": 67}], "disease": [{"text": "arthrogryposis", "start": 91, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Expression of epidermal growth factor in transgenic mice causes growth retardation.", "output": {"entities": {"gene": [{"text": "epidermal growth factor", "start": 14, "end": 37}], "disease": [{"text": "growth retardation", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Sixty-two colorectal polyps--37 adenomatous polyps, 23 hyperplastic polyps, and 2 sessile serrated polyps (SSP)--from 34 subjects with germline MMR gene mutations were tested for MSI using a single pentaplex PCR for five mononucleotide repeat microsatellite markers, and also for expression of MLH1, MSH2, MSH6, and PMS2 proteins by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "PMS2", "start": 316, "end": 320}], "disease": [{"text": "adenomatous polyps", "start": 32, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrated that TGF-β1 increased the formation of autophagic vacuoles, LC3 expression, and phosphorylation of PI3K, Akt and mTOR in scrambled siRNA transfected HK2 cells compared to control cells, which was reversed in KCa3. 1 siRNA transfected HK2 cells.", "output": {"entities": {"gene": [{"text": "LC3", "start": 85, "end": 88}], "disease": [{"text": "autophagic vacuoles", "start": 64, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The hypoxia-inducible endothelial cell-specific mitogen vascular endothelial growth factor/vascular permeability factor (VEGF/VPF) is expressed in low amounts in adult human brain, but is highly upregulated in the perinecrotic palisading cells of glioblastomas.", "output": {"entities": {"gene": [{"text": "VPF", "start": 126, "end": 129}], "disease": [{"text": "hypoxia", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, in the SG, the number of circulating Lin (-)/CD45 (-)/CD34 (+) VSELs and the S1P plasma level are the best predictors of risk and are proposed as novel markers for the first \" schizophrenic \" episode of psychosis.", "output": {"entities": {"gene": [{"text": "CD45", "start": 58, "end": 62}], "disease": [{"text": "psychosis", "start": 216, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD45", "start": 58, "end": 62}, "tail": {"text": "psychosis", "start": 216, "end": 225}}]}}, "schema": []}
{"input": "Research on the LKB1 tumor suppressor protein mutated in cancer-prone Peutz-Jeghers patients has continued at a feverish pace following exciting developments linking energy metabolism and cancer development.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 16, "end": 20}], "disease": [{"text": "feverish", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "To identify the possible mutations and/or polymorphisms of neuronal nicotinic acetylcholine receptor (nAChR) genes related to the pathogenesis of sporadic AD, we have performed mutational analyses of the major neuronal nAChR genes (CHRNA3, 4, 7 and CHRNB2) expressed in central nervous system.", "output": {"entities": {"gene": [{"text": "CHRNB2", "start": 249, "end": 255}], "disease": [{"text": "sporadic", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Patients with HOX11-high expression and those with SIL-TAL fusion had low levels of residual disease at the end of induction and a favorable prognosis: the 3-year EFS rate was 83. 3% (+/-8. 5%) and 75. 3% (+/-12. 6%), respectively.", "output": {"entities": {"gene": [{"text": "HOX11", "start": 14, "end": 19}], "disease": [{"text": "residual disease", "start": 84, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe a case of phyllodes tumor of the prostate with a high value of prostate-specific antigen (PSA).", "output": {"entities": {"gene": [{"text": "prostate-specific antigen", "start": 91, "end": 116}], "disease": [{"text": "phyllodes tumor of the prostate", "start": 38, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prostate-specific antigen", "start": 91, "end": 116}, "tail": {"text": "phyllodes tumor of the prostate", "start": 38, "end": 69}}]}}, "schema": []}
{"input": "Breast cancer antigens RAK-p120,-p42,-p25 were detected in 100% of breast cancer cases tested (71 cases).", "output": {"entities": {"gene": [{"text": "p42", "start": 33, "end": 36}], "disease": [{"text": "breast cancer", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Interaction analyses were significant for heavy alcohol intake and PON1 genotype (p =. 02) in black men, with a suggested interaction for heavy alcohol intake and CETP genotype (p =. 06) in black men.", "output": {"entities": {"gene": [{"text": "CETP", "start": 163, "end": 167}], "disease": [{"text": "alcohol intake", "start": 48, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.", "output": {"entities": {"gene": [{"text": "CGI-58", "start": 26, "end": 32}], "disease": [{"text": "Dorfman-Chanarin syndrome", "start": 59, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CGI-58", "start": 26, "end": 32}, "tail": {"text": "Dorfman-Chanarin syndrome", "start": 59, "end": 84}}]}}, "schema": []}
{"input": "The marginal means of PTH, adjusted with the general factorial analysis of variance across the three groups were: (a) mild CRF group, BB 5. 3 pmol/liter (CI 0 to 13. 8), Bb 5. 5 pmol/liter (CI 2 to 9), bb 5. 4 pmol/liter (CI 0. 6 to 10. 2); (b) moderate CRF group, BB 6. 2 pmol/liter (CI 1. 5 to 10. 9), Bb 7. 8 pmol/liter (CI 5. 3 to 10. 3), bb 7. 5 pmol/liter (CI 4. 8 to 10. 1); (c) severe CRF group, BB 9. 3 pmol/liter (CI 4. 2 to 14. 3), Bb 17. 1 pmol/liter (CI 13. 9 to 20. 2), bb 21. 9 pmol/liter (CI 18. 7 to 25. 2).", "output": {"entities": {"gene": [{"text": "PTH", "start": 22, "end": 25}], "disease": [{"text": "mild", "start": 118, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The mainly neuronally expressed protein p42 (IP4) (centaurin α1; ADAP1), which interacts with the metalloendopeptidase nardilysin (NRD) was found to be localized in neuritic plaques in Alzheimer disease (AD) brains.", "output": {"entities": {"gene": [{"text": "p42", "start": 40, "end": 43}], "disease": [{"text": "neuritic plaques", "start": 165, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Significant interactions were observed between pack-years of smoking and the combined GSTM3 AA and GSTP1 (AG or GG) genotype, or the combined GSTM3 AA, GSTP1 (AG or GG) and GSTM1 null genotype.", "output": {"entities": {"gene": [{"text": "GSTM3", "start": 86, "end": 91}], "disease": [{"text": "smoking", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "However, withdrawal of estrogen from the tumors resulted in increased VEGF and elevated vascular permeability, presumably due to hypoxic conditions that were found to dominate VEGF overexpression in cultured cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 70, "end": 74}], "disease": [{"text": "hypoxic", "start": 129, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "These results establish this TT & gt; A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE.", "output": {"entities": {"gene": [{"text": "TNFAIP3", "start": 131, "end": 138}], "disease": [{"text": "SLE", "start": 143, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFAIP3", "start": 131, "end": 138}, "tail": {"text": "SLE", "start": 143, "end": 146}}]}}, "schema": []}
{"input": "Genetic risk factors examined included APOE, ACE, OLR1, and CYP46 genes, and environmental factors included smoking, total cholesterol, LDL, HDL, triglycerides, C-reactive protein, blood pressure, statin use, and body mass index.", "output": {"entities": {"gene": [{"text": "OLR1", "start": 50, "end": 54}], "disease": [{"text": "smoking", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The most frequent LSD groups were lipidoses, mucopolysaccharidoses, and neuronal ceroid lipofuscinoses, with combined prevalences of 5. 0, 3. 72, and 2. 29 per 100, 000 live births, respectively.", "output": {"entities": {"gene": [{"text": "LSD", "start": 18, "end": 21}], "disease": [{"text": "mucopolysaccharidoses", "start": 45, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In patients with dilated cardiomyopathy, an increase in endomyocardial NOS2 or NOS3 gene expression augments LV stroke volume and LV stroke work because of a NO-mediated rightward shift of the diastolic LV pressure-volume relation and a concomitant increase in LV preload reserve.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 71, "end": 75}], "disease": [{"text": "dilated cardiomyopathy", "start": 17, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Breast aspiration fluid CEA concentration and the methylation of the APC gene promoter 1A and the promoter region of the cyclin D2 gene can be used as tumor markers to overcome some of the limitations of aspiration cytology.", "output": {"entities": {"gene": [{"text": "APC gene", "start": 69, "end": 77}], "disease": [{"text": "aspiration", "start": 7, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "This translocation deregulates bcl-2 gene expression by placing it into immunoglobulin heavy chain locus (IgH).", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 31, "end": 41}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Case-specific calculation of the RANKL/OPG ratio in advanced IMF showed a wide range without significant differences when compared with the prefibrotic IMF and non-neoplastic haematopoiesis.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 33, "end": 38}], "disease": [{"text": "non-neoplastic", "start": 160, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "To investigate the roles of NDRG2 in tumorigenesis, we used in vitro cell culture system.", "output": {"entities": {"gene": [{"text": "NDRG2", "start": 28, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The FAAH inhibitor, URB597, reduced cocaine-induced seizures and epileptiform electroencephalographic activity.", "output": {"entities": {"gene": [{"text": "FAAH", "start": 4, "end": 8}], "disease": [{"text": "seizures", "start": 52, "end": 60}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FAAH", "start": 4, "end": 8}, "tail": {"text": "seizures", "start": 52, "end": 60}}]}}, "schema": []}
{"input": "This is the first report of an IGH-MALT1 translocation in DLBCL.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 35, "end": 40}], "disease": [{"text": "translocation", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Importantly, this proliferation signature was absent from the poorly leukemogenic p50/RARA fusion model, implying a critical role for PML in the altered cell-cycle kinetics and ability to initiate leukemia.", "output": {"entities": {"gene": [{"text": "p50", "start": 82, "end": 85}], "disease": [{"text": "leukemia", "start": 197, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "This hypoglycemic state was neither due to impaired insulin secretion nor insulin receptor hypersensitivity.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 74, "end": 90}], "disease": [{"text": "hypersensitivity", "start": 91, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We aimed to investigate whether diet interventions varying in macronutrients modified the effects of FTO genotypes on changes in insulin resistance.", "output": {"entities": {"gene": [{"text": "FTO", "start": 101, "end": 104}], "disease": [{"text": "insulin resistance", "start": 129, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We have studied 47 patients with AIS and have characterized the underlying molecular abnormality in the androgen receptor gene.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 104, "end": 121}], "disease": [{"text": "AIS", "start": 33, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 104, "end": 121}, "tail": {"text": "AIS", "start": 33, "end": 36}}]}}, "schema": []}
{"input": "This study aims to assess E2A expression in CRC tissues, evaluate its prognosis value, and investigate its role in colon cancer cell growth.", "output": {"entities": {"gene": [{"text": "E2A", "start": 26, "end": 29}], "disease": [{"text": "colon cancer", "start": 115, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In addition, it diminished the mRNA levels of hypoxia-inducible genes such as vascular endothelial growth factor (VEGF), smad3, aldolase A, enolase 1, and collagen type III in the PC12 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 114, "end": 118}], "disease": [{"text": "hypoxia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Toxic rhinitis patients had significantly elevated expression scores for VIP (2. 83 +/-0. 31 vs 1. 27 +/-0. 47 control group) and NPY (3. 17 +/-0. 31 vs 0. 91 +/-0. 37 control group) revealing an increase of mediators in distinct subpopulations of airway nerves.", "output": {"entities": {"gene": [{"text": "VIP", "start": 73, "end": 76}], "disease": [{"text": "rhinitis", "start": 6, "end": 14}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VIP", "start": 73, "end": 76}, "tail": {"text": "rhinitis", "start": 6, "end": 14}}]}}, "schema": []}
{"input": "We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls.", "output": {"entities": {"gene": [{"text": "TYRP1", "start": 86, "end": 91}], "disease": [{"text": "skin cancer", "start": 218, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "The potentiation of TRPV1 was caused by its phosphorylation of the serine residues, and translocation of protein kinase C (PKC) ε was clearly observed in the cells exposed to the hypoxic conditions in both cell types, which was inhibited by 2-methoxyestradiol, a HIF-1α inhibitor.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 263, "end": 269}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Human PRLR and GHR transcripts were also observed throughout the cancerous progression of the colonic and gastric mucosa from adenomas to colonic liver metastasis and gastrointestinal cancer cell lines at various stages of growth and differentiation.", "output": {"entities": {"gene": [{"text": "PRLR", "start": 6, "end": 10}], "disease": [{"text": "gastrointestinal cancer", "start": 167, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "14 patients with EE were investigated for mutations in the ETHE1 gene.", "output": {"entities": {"gene": [{"text": "ETHE1", "start": 59, "end": 64}], "disease": [{"text": "EE", "start": 17, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ETHE1", "start": 59, "end": 64}, "tail": {"text": "EE", "start": 17, "end": 19}}]}}, "schema": []}
{"input": "We also looked at the expression of thymic stromal lymphopoietin (TSLP) in giant papillae of patients with vernal keratoconjunctivitis and examined whether the as Toll-like receptor 3 ligand polyinosinic: polycytidylic acid (poly I: C) can induce expression of TSLP in cultured human conjunctival epithelial cells.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 66, "end": 70}], "disease": [{"text": "giant", "start": 75, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in 3' untranslated region (UTR) of cancer-related genes might affect their regulation by microRNAs (miRNAs) and thereby contribute to carcinogenesis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 41, "end": 44}], "disease": [{"text": "carcinogenesis", "start": 148, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "To support Losmapimod, a p38 mitogen-activated protein kinase inhibitor in development for acute coronary syndrome, we characterized gene variation in MAPK11/14 genes by exome sequencing and follow-up genotyping or imputation in participants well-phenotyped for cardiovascular and metabolic traits.", "output": {"entities": {"gene": [{"text": "p38", "start": 25, "end": 28}], "disease": [{"text": "acute coronary syndrome", "start": 91, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The UPAR gene encodes a pleiotropic receptor (urokinase-type plasminogen activator receptor [uPAR]) involved in fibrosis, immunity, angiogenesis, and vascular remodeling.", "output": {"entities": {"gene": [{"text": "UPAR", "start": 4, "end": 8}], "disease": [{"text": "fibrosis", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Findings in Phox2b (27Ala/+) knock-in mice consisted of unstable breathing with apneas, absence of the ventilatory response to hypercapnia, death within a few hours after birth, and absence of the retrotrapezoid nucleus (RTN).", "output": {"entities": {"gene": [{"text": "Phox2b", "start": 12, "end": 18}], "disease": [{"text": "breathing", "start": 65, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Association between the aldehyde dehydrogenase 2 * 2 allele and smoking-related chronic airway obstruction in a Japanese general population: a pilot study.", "output": {"entities": {"gene": [{"text": "aldehyde dehydrogenase 2", "start": 24, "end": 48}], "disease": [{"text": "smoking", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We describe the clinical history of an Italian child presenting progressive spastic paraparesis, carrying a new homozygous missense mutation in the ARG1 gene.", "output": {"entities": {"gene": [{"text": "ARG1 gene", "start": 148, "end": 157}], "disease": [{"text": "progressive spastic paraparesis", "start": 64, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Accumulating evidences demonstrated that the induction of epithelial-mesenchymal transition (EMT) and aberrant expression of microRNAs (miRNAs) are associated with tumorigenesis, tumor progression, metastasis and relapse in cancers, including chronic myeloid leukemia (CML).", "output": {"entities": {"gene": [{"text": "EMT", "start": 93, "end": 96}], "disease": [{"text": "tumor progression", "start": 179, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.", "output": {"entities": {"gene": [{"text": "tyrosinase", "start": 23, "end": 33}], "disease": [{"text": "tyrosinase related oculocutaneous albinism", "start": 55, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tyrosinase", "start": 23, "end": 33}, "tail": {"text": "tyrosinase related oculocutaneous albinism", "start": 55, "end": 97}}]}}, "schema": []}
{"input": "Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity.", "output": {"entities": {"gene": [{"text": "MFAP4", "start": 363, "end": 368}], "disease": [{"text": "dry skin", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we found that overexpressed RIOK2 formed a complex with RIOK1, mTor, and mTor-complex-2 components, and that overexpressed RIOK2 upregulated Akt signaling and promoted tumorigenesis in murine astrocytes.", "output": {"entities": {"gene": [{"text": "RIOK1", "start": 66, "end": 71}], "disease": [{"text": "tumorigenesis", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Downregulation of RUNX3 and TES by hypermethylation in glioblastoma.", "output": {"entities": {"gene": [{"text": "TES", "start": 28, "end": 31}], "disease": [{"text": "glioblastoma", "start": 55, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TES", "start": 28, "end": 31}, "tail": {"text": "glioblastoma", "start": 55, "end": 67}}]}}, "schema": []}
{"input": "Using immunohistochemistry, we studied the overexpression of MDM2, p53, and NCAM proteins in human radiation-induced skin ulcers.", "output": {"entities": {"gene": [{"text": "p53", "start": 67, "end": 70}], "disease": [{"text": "skin ulcers", "start": 117, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The mean body mass index of the patients (23. 9 +/-4. 2 kg/m (2) in males and 26. 3 +/-6. 6 kg/m (2) in females) did not differ significantly from that of gender-, age-, and treatment-matched KS individuals who did not carry a mutation in PROK2 or PROKR2.", "output": {"entities": {"gene": [{"text": "PROKR2", "start": 248, "end": 254}], "disease": [{"text": "body mass index", "start": 9, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "A representative anti-Nectin-2 mAb in epitope bin VII, Y-443, showed anti-tumor effects against OV-90 cells and MDA-MB-231 breast cancer cells in mouse therapeutic models, and its main mechanism of action appeared to be ADCC.", "output": {"entities": {"gene": [{"text": "Nectin-2", "start": 22, "end": 30}], "disease": [{"text": "breast cancer", "start": 123, "end": 136}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nectin-2", "start": 22, "end": 30}, "tail": {"text": "breast cancer", "start": 123, "end": 136}}]}}, "schema": []}
{"input": "The mRNA and protein level of VEGF-A in MBT-2 cells increased by 70% at 48 hours interval under hypoxia stress condition.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 30, "end": 36}], "disease": [{"text": "hypoxia", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The mice having nonhematopoietic Pin1 exhibited fat accumulation without liver fibrosis on the MCD diet.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 33, "end": 37}], "disease": [{"text": "liver fibrosis", "start": 73, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 16, "end": 20}], "disease": [{"text": "breast cancer", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCNH", "start": 16, "end": 20}, "tail": {"text": "breast cancer", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "Targeting homeostatic mechanisms of endoplasmic reticulum stress to increase susceptibility of cancer cells to fenretinide-induced apoptosis: the role of stress proteins ERdj5 and ERp57.", "output": {"entities": {"gene": [{"text": "ERp57", "start": 180, "end": 185}], "disease": [{"text": "cancer", "start": 95, "end": 101}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ERp57", "start": 180, "end": 185}, "tail": {"text": "cancer", "start": 95, "end": 101}}]}}, "schema": []}
{"input": "TLS is a novel nuclear RNA-binding protein with extensive sequence similarity to EWS, the product of a gene commonly translocated in Ewing' s sarcoma.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 23, "end": 42}], "disease": [{"text": "sarcoma", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Sera of patients with acute hepatitis non-A, non-B prospectively followed for a mean of 11. 4 years (range 9 to 15 years) were assayed for anti-hepatitis C virus (HCV) by first-and second-generation enzyme-linked immunosorbent assay (ELISA) and second-generation recombinant immunoblot assay (RIBA) to study the patterns of antibody response in relation to the outcome of disease.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 293, "end": 297}], "disease": [{"text": "acute hepatitis", "start": 22, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Steady-state expression of Na (+)-K + ATPase alpha-1 and-2, phospholamban (PLB), alpha-myosin heavy chain (alpha-MHC), ryanodine receptor (Rya) and Ca2 + ATPase (Serca2) mRNAs were decreased in the infarct scar vs noninfarcted sham-operated controls (P < 0. 05).", "output": {"entities": {"gene": [{"text": "Serca2", "start": 162, "end": 168}], "disease": [{"text": "scar", "start": 206, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "The frequencies of IL-2, IFN-gamma, IL-4 and IL-10 gene expression were also determined in peripheral blood mononuclear cells from patients with colorectal adenocarcinoma and compared to those of healthy individuals.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 36, "end": 40}], "disease": [{"text": "colorectal adenocarcinoma", "start": 145, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Of the 9 lesions of the hands and feet, 8 (89%) showed USP6 gene rearrangements, whereas no abnormalities were identified in the 8 gnathic GCRGs, 2 brown tumors, or 8 giant cell tumors of bone.", "output": {"entities": {"gene": [{"text": "USP6 gene", "start": 55, "end": 64}], "disease": [{"text": "abnormalities", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We examined whether alleles of TNF gene (lymphotoxin-alpha + 250, TNF-alpha-308, and TNF-alpha-238) affect tracheal aspirate fluid (TAF) levels of TNF-alpha among preterm infants at risk of bronchopulmonary dysplasia.", "output": {"entities": {"gene": [{"text": "lymphotoxin-alpha", "start": 41, "end": 58}], "disease": [{"text": "bronchopulmonary dysplasia", "start": 190, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "The key role of stem cell factor/KIT signaling in the proliferation of blast cells from Down syndrome-related leukemia.", "output": {"entities": {"gene": [{"text": "stem cell factor", "start": 16, "end": 32}], "disease": [{"text": "leukemia", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that GRK3-/-mice exhibit numerous features of human WHIM, such as impaired CXCL12-mediated desensitization, enhanced CXCR4 signaling to ERK activation, altered granulocyte migration, and a mild myelokathexis.", "output": {"entities": {"gene": [{"text": "CXCL12", "start": 91, "end": 97}], "disease": [{"text": "mild", "start": 205, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "We examined whether variation within six genes from the VCFS critical region at 22q11 (DGSC, Stk22A1, DGSI, Gscl, Slc25A1 and Znf74) confers susceptibility to schizophrenia.", "output": {"entities": {"gene": [{"text": "DGSI", "start": 102, "end": 106}], "disease": [{"text": "schizophrenia", "start": 159, "end": 172}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DGSI", "start": 102, "end": 106}, "tail": {"text": "schizophrenia", "start": 159, "end": 172}}]}}, "schema": []}
{"input": "The statistical association and the functional evidence suggest that mutations of the GABRG2 gene may increase the risk of RE/ARE.", "output": {"entities": {"gene": [{"text": "GABRG2", "start": 86, "end": 92}], "disease": [{"text": "RE", "start": 123, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GABRG2", "start": 86, "end": 92}, "tail": {"text": "RE", "start": 123, "end": 125}}]}}, "schema": []}
{"input": "In the present study, the effects of acidification on the expression of connective tissue growth factor (CTGF), a critical factor involved in the formation of extracellular matrix proteins and hence airway remodeling, were examined in human airway smooth muscle cells (ASMCs).", "output": {"entities": {"gene": [{"text": "CTGF", "start": 105, "end": 109}], "disease": [{"text": "airway remodeling", "start": 199, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Significant associations were detected between reduced expression of miR-143, miR-203 and low social status, and combination of smoking and heavy drinking.", "output": {"entities": {"gene": [{"text": "miR-143", "start": 69, "end": 76}], "disease": [{"text": "heavy drinking", "start": 140, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-143", "start": 69, "end": 76}, "tail": {"text": "heavy drinking", "start": 140, "end": 154}}]}}, "schema": []}
{"input": "In multiple linear regression, significant determinants of greater CDR were increasing age, male sex, higher intraocular pressure (IOP), lower diastolic blood pressure, lower body mass index, and previous cataract surgery.", "output": {"entities": {"gene": [{"text": "CDR", "start": 67, "end": 70}], "disease": [{"text": "body mass index", "start": 175, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The BPTF variants were found in unrelated individuals aged between 2. 1 and 13 years, who manifest variable degrees of developmental delay/intellectual disability (10/10), speech delay (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10).", "output": {"entities": {"gene": [{"text": "BPTF", "start": 4, "end": 8}], "disease": [{"text": "intellectual disability", "start": 139, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BPTF", "start": 4, "end": 8}, "tail": {"text": "intellectual disability", "start": 139, "end": 162}}]}}, "schema": []}
{"input": "In the patients who initially were free of nephropathy, baseline plasma ACE concentration was higher in patients who progressed to microalbuminuria (571 +/-231 versus 466 +/-181 microg/L; P = 0. 0032); the D allele independently favored the occurrence of incipient nephropathy (adjusted hazard ratio, 4. 5; 95% confidence interval, 1. 1 to 19. 4); other contributors were male gender, baseline systolic BP, and urinary albumin excretion.", "output": {"entities": {"gene": [{"text": "ACE", "start": 72, "end": 75}], "disease": [{"text": "microalbuminuria", "start": 131, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Expansions of a polyalanine (polyA) stretch in the coding region of the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by the absence of adequate control of autonomic breathing.", "output": {"entities": {"gene": [{"text": "PHOX2B gene", "start": 72, "end": 83}], "disease": [{"text": "breathing", "start": 223, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "We sought to identify new fusion genes with involvement of the platelet-derived growth factor receptor beta gene (PDGFRB) in three patients presenting with various subtypes of chronic myeloproliferative disorders associated with chromosomal aberrations involving chromosome bands 5q31-33.", "output": {"entities": {"gene": [{"text": "PDGFRB", "start": 114, "end": 120}], "disease": [{"text": "chromosomal aberrations", "start": 229, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "2-amino-4-phosphonobutyric acid (APB), which selectively blocks light responses of on-pathway depolarizing bipolar cells, fully recreated the essential ERG abnormalities found for human CSNB1 under the condition that the off-pathway remained active.", "output": {"entities": {"gene": [{"text": "ERG", "start": 152, "end": 155}], "disease": [{"text": "abnormalities", "start": 156, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Cholesteryl ester transfer protein (CETP) genotype and reduced CETP levels associated with decreased prevalence of hypertension.", "output": {"entities": {"gene": [{"text": "Cholesteryl ester transfer protein", "start": 0, "end": 34}], "disease": [{"text": "hypertension", "start": 115, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cholesteryl ester transfer protein", "start": 0, "end": 34}, "tail": {"text": "hypertension", "start": 115, "end": 127}}]}}, "schema": []}
{"input": "PIM has been suggested to be a subset of condyloma associated with low-risk type human papilloma virus (HPV), however, the etiologic role of HPV and biologic behavior of the disease are still elusive.", "output": {"entities": {"gene": [{"text": "PIM", "start": 0, "end": 3}], "disease": [{"text": "condyloma", "start": 41, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The methylation of 9 sites (GDNF, CDH1, RARAB2, CDH13, MYOD1, SFRP1, SLC16A12, DPYS, N33, and LINE1) and their mean Z score was correlated with higher age (R = 0. 41, P < 0. 0001) and marginally with telomere shortening (R =-0. 18, P = 0. 01) but not with gastric cancer risk (other than SFRP1 methylation).", "output": {"entities": {"gene": [{"text": "DPYS", "start": 79, "end": 83}], "disease": [{"text": "gastric cancer", "start": 256, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "The ovarian phenotype observed in mice devoid of rip140 closely resembles the luteinized unruptured follicle (LUF) syndrome that is observed in a high proportion of women affected of endometriosis or idiopathic infertility.", "output": {"entities": {"gene": [{"text": "rip140", "start": 49, "end": 55}], "disease": [{"text": "infertility", "start": 211, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "In response to IR, autophosphorylation on serine 1981 causes dissociation of ATM dimers and initiates cellular ATM kinase activity.", "output": {"entities": {"gene": [{"text": "ATM", "start": 77, "end": 80}], "disease": [{"text": "dissociation", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome.", "output": {"entities": {"gene": [{"text": "TMEM16F", "start": 36, "end": 43}], "disease": [{"text": "Scott syndrome", "start": 72, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM16F", "start": 36, "end": 43}, "tail": {"text": "Scott syndrome", "start": 72, "end": 86}}]}}, "schema": []}
{"input": "These novel data support the notion that resveratrol may be a potential therapeutic agent in pulmonary hypertension by preventing PASMC arginase II induction and proliferation.", "output": {"entities": {"gene": [{"text": "arginase II", "start": 136, "end": 147}], "disease": [{"text": "pulmonary hypertension", "start": 93, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "arginase II", "start": 136, "end": 147}, "tail": {"text": "pulmonary hypertension", "start": 93, "end": 115}}]}}, "schema": []}
{"input": "Our results suggested that pravastatin' s aortic atherosclerosis preventing action via attenuation of IL-6 action may partially depend on modulation of STAT3 activity.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 152, "end": 157}], "disease": [{"text": "atherosclerosis", "start": 49, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT3", "start": 152, "end": 157}, "tail": {"text": "atherosclerosis", "start": 49, "end": 64}}]}}, "schema": []}
{"input": "We have investigated the presence of TTV DNA in lymph node biopsies of Italian patients affected with the most common lymphoma types in Western Countries: follicular lymphoma (FL), diffuse large B-cell lymphoma (DLBCL) and nodular sclerosis Hodgkin' s disease (NS-HD).", "output": {"entities": {"gene": [{"text": "TTV", "start": 37, "end": 40}], "disease": [{"text": "follicular lymphoma", "start": 155, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.", "output": {"entities": {"gene": [{"text": "acetoacetyl-coenzyme A thiolase", "start": 69, "end": 100}], "disease": [{"text": "3-ketothiolase deficiency", "start": 158, "end": 183}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acetoacetyl-coenzyme A thiolase", "start": 69, "end": 100}, "tail": {"text": "3-ketothiolase deficiency", "start": 158, "end": 183}}]}}, "schema": []}
{"input": "Matrix metalloproteinase (MMP) 9 plays an important role in the degradation of the extracellular matrix in fetal membranes, and pathological activation of MMP-9 can lead to preterm birth.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 155, "end": 160}], "disease": [{"text": "preterm birth", "start": 173, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 155, "end": 160}, "tail": {"text": "preterm birth", "start": 173, "end": 186}}]}}, "schema": []}
{"input": "Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene.", "output": {"entities": {"gene": [{"text": "MAPT", "start": 110, "end": 114}], "disease": [{"text": "Frontotemporal dementia with parkinsonism", "start": 0, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAPT", "start": 110, "end": 114}, "tail": {"text": "Frontotemporal dementia with parkinsonism", "start": 0, "end": 41}}]}}, "schema": []}
{"input": "Fasting plasma glucose, postprandial plasma glucose, glycated haemoglobin, fasting and postprandial serum insulin (FINS, PINS), homeostasis model assessment for insulin resistance, serum triglyceride, total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol were determined before and after repaglinide treatment.", "output": {"entities": {"gene": [{"text": "PINS", "start": 121, "end": 125}], "disease": [{"text": "insulin resistance", "start": 161, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "After digoxin pretreatment, 7 of 17 eNOS-deficient mice had inducible ventricular tachycardia and 2 others had frequent ventricular premature beats, compared with only 3 of 11 wild-type mice with inducible ventricular tachycardia.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 36, "end": 40}], "disease": [{"text": "ventricular premature beats", "start": 120, "end": 147}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "eNOS", "start": 36, "end": 40}, "tail": {"text": "ventricular premature beats", "start": 120, "end": 147}}]}}, "schema": []}
{"input": "The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.", "output": {"entities": {"gene": [{"text": "METTL6", "start": 84, "end": 90}], "disease": [{"text": "breast tumors", "start": 212, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "METTL6", "start": 84, "end": 90}, "tail": {"text": "breast tumors", "start": 212, "end": 225}}]}}, "schema": []}
{"input": "Chronic heroin and cocaine abuse is associated with decreased serum concentrations of the nerve growth factor and brain-derived neurotrophic factor.", "output": {"entities": {"gene": [{"text": "nerve growth factor", "start": 90, "end": 109}], "disease": [{"text": "cocaine abuse", "start": 19, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nerve growth factor", "start": 90, "end": 109}, "tail": {"text": "cocaine abuse", "start": 19, "end": 32}}]}}, "schema": []}
{"input": "Clinical manifestations of CHP cases (n = 38) were fever (100%), convulsion (76. 3%), altered sensorium (34. 2%), headache (23. 7%), vomiting (44. 7%) and diarrhoea (23. 7%).", "output": {"entities": {"gene": [{"text": "CHP", "start": 27, "end": 30}], "disease": [{"text": "diarrhoea", "start": 155, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Analysis in 53 tumors confirmed the presence of 7 variants of this fusion transcript in 29 tumors (55%), representing a lower bound for fusion frequency at this locus and suggesting that the NAB2-STAT6 fusion is a distinct molecular feature of SFTs.", "output": {"entities": {"gene": [{"text": "NAB2", "start": 191, "end": 195}], "disease": [{"text": "SFT", "start": 244, "end": 247}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NAB2", "start": 191, "end": 195}, "tail": {"text": "SFT", "start": 244, "end": 247}}]}}, "schema": []}
{"input": "Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "HFE", "start": 52, "end": 55}], "disease": [{"text": "hemochromatosis", "start": 8, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HFE", "start": 52, "end": 55}, "tail": {"text": "hemochromatosis", "start": 8, "end": 23}}]}}, "schema": []}
{"input": "SIRT1-mediated activation of FGF21 prevents liver steatosis caused by fasting.", "output": {"entities": {"gene": [{"text": "FGF21", "start": 29, "end": 34}], "disease": [{"text": "liver steatosis", "start": 44, "end": 59}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FGF21", "start": 29, "end": 34}, "tail": {"text": "liver steatosis", "start": 44, "end": 59}}]}}, "schema": []}
{"input": "MTSS1 levels are inversely correlated with the growth, invasion, adhesion and migration of kidney cancer cells in vitro.", "output": {"entities": {"gene": [{"text": "MTSS1", "start": 0, "end": 5}], "disease": [{"text": "adhesion", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Fv2 (r) B6 mice lacking CD4 (+) T cells developed early polycythemia and fatal erythroleukemia, while B6 mice lacking CD8 (+) T cells remained resistant.", "output": {"entities": {"gene": [{"text": "CD8", "start": 118, "end": 121}], "disease": [{"text": "erythroleukemia", "start": 79, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "CDSP is caused by recessive mutations in the SLC22A5 gene.", "output": {"entities": {"gene": [{"text": "SLC22A5", "start": 45, "end": 52}], "disease": [{"text": "CDSP", "start": 0, "end": 4}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC22A5", "start": 45, "end": 52}, "tail": {"text": "CDSP", "start": 0, "end": 4}}]}}, "schema": []}
{"input": "The aim of our study is to analyze the ACE gene I/D polymorphisms in patients with insulin resistance (IR) and to evaluate its relationship to left ventricular mass and functions.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 39, "end": 47}], "disease": [{"text": "left ventricular mass", "start": 143, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Mutations in transmembrane activator and calcium-modulating cyclophilin ligand (TACI), are found in 8-10%, associated with autoimmunity and splenomegaly.", "output": {"entities": {"gene": [{"text": "calcium-modulating cyclophilin ligand", "start": 41, "end": 78}], "disease": [{"text": "splenomegaly", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The role of activity-dependent neuroprotective protein in a mouse model of fetal alcohol syndrome.", "output": {"entities": {"gene": [{"text": "activity-dependent neuroprotective protein", "start": 12, "end": 54}], "disease": [{"text": "fetal alcohol syndrome", "start": 75, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "activity-dependent neuroprotective protein", "start": 12, "end": 54}, "tail": {"text": "fetal alcohol syndrome", "start": 75, "end": 97}}]}}, "schema": []}
{"input": "The putative oncogene bcl-2 is juxtaposed to the immunoglobulin heavy chain (Igh) locus by the t (14; 18) chromosomal translocation typical of human follicular B-cell lymphomas.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 22, "end": 27}], "disease": [{"text": "chromosomal translocation", "start": 106, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.", "output": {"entities": {"gene": [{"text": "EXT1", "start": 17, "end": 21}], "disease": [{"text": "hereditary multiple exostoses", "start": 40, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EXT1", "start": 17, "end": 21}, "tail": {"text": "hereditary multiple exostoses", "start": 40, "end": 69}}]}}, "schema": []}
{"input": "The aim of the present study was to examine the expression and significance of peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 (Pin1), β‑catenin and cyclin D1 in hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "Pin1", "start": 135, "end": 139}], "disease": [{"text": "hepatocellular carcinoma", "start": 169, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "When stratified by microsatellite stability status, however, the MLH1-93A allele was associated with a more than doubling in microsatellite instability (MSI)-positive colon cancer risk (AA vs GG, OR 2. 47; 95% CI 1. 48 to 4. 11); no associations were observed between the MMR polymorphisms examined and MSI-negative colon cancer.", "output": {"entities": {"gene": [{"text": "MMR", "start": 272, "end": 275}], "disease": [{"text": "microsatellite instability", "start": 125, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia.", "output": {"entities": {"gene": [{"text": "snapin", "start": 55, "end": 61}], "disease": [{"text": "schizophrenia", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Neither radon nor passive-smoking exposure was consistently associated with EGFR mutations in lung tumors.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 76, "end": 80}], "disease": [{"text": "smoking", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "To characterize AIS and, in particular, determine how AIS might be related to smoking, we collected a large number of AIS cases and examined clinicopathologic features, EGFR and KRAS mutation status, and activation status of receptor tyrosine kinase downstream signal pathways, including pAkt, pERK, and pStat3, using immunohistochemistry.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 169, "end": 173}], "disease": [{"text": "smoking", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Mutations causing autosomal dominant monilethrix have been found in the helix initiation and helix termination motifs of the type II hair keratins KRT81, KRT83 and KRT86.", "output": {"entities": {"gene": [{"text": "KRT86", "start": 164, "end": 169}], "disease": [{"text": "monilethrix", "start": 37, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT86", "start": 164, "end": 169}, "tail": {"text": "monilethrix", "start": 37, "end": 48}}]}}, "schema": []}
{"input": "P70S6K1 rescues miR-145-suppressed HIF-1 and VEGF levels, tumorigenesis and tumor angiogenesis.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 35, "end": 40}], "disease": [{"text": "tumorigenesis", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.", "output": {"entities": {"gene": [{"text": "protoporphyrinogen oxidase", "start": 37, "end": 63}], "disease": [{"text": "variegate porphyria", "start": 89, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "protoporphyrinogen oxidase", "start": 37, "end": 63}, "tail": {"text": "variegate porphyria", "start": 89, "end": 108}}]}}, "schema": []}
{"input": "Blood glucose (BG), plasma insulin and insulin sensitivity of rats were determined at end of the 4 (th) and 8 (th) wk, and after treatment with different amounts of MFN2 expressing adenovirus (10 (8), 10 (9) or 10 (10) vp/kg body weight).", "output": {"entities": {"gene": [{"text": "MFN2", "start": 165, "end": 169}], "disease": [{"text": "adenovirus", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of miR‑200b significantly suppressed cell proliferation, migration, invasion and EMT in glioma U251 and U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 119, "end": 122}], "disease": [{"text": "glioma", "start": 103, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We conclude that, although alcoholism is a factor in the development of osteopenia, in males the ABO blood group status plays a significant role in the maximal mineralization of the skeleton and the amount of bone resorption during ageing, independent of alcohol abuse.", "output": {"entities": {"gene": [{"text": "ABO", "start": 97, "end": 100}], "disease": [{"text": "alcohol abuse", "start": 255, "end": 268}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABO", "start": 97, "end": 100}, "tail": {"text": "alcohol abuse", "start": 255, "end": 268}}]}}, "schema": []}
{"input": "Here we review this topic and illustrate major features by presenting multimodal management of a patient with BRAF-positive disseminated follicular thyroid cancer arising in an ovarian teratoma.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 110, "end": 114}], "disease": [{"text": "ovarian teratoma", "start": 177, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "The number of extrapulmonary metastases was significantly higher in the high-SPP1-expressing patients than in the low-expressing patients (P = 0. 03).", "output": {"entities": {"gene": [{"text": "SPP1", "start": 77, "end": 81}], "disease": [{"text": "metastases", "start": 29, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The UCN immunoscore was high in all 9 normal gastric mucosa specimens, significantly lower in poorly differentiated gastric adenocarcinoma than in well and moderately differentiated tumors (P = 0. 018), and significantly lower in more advanced pathologic stages of gastric adenocarcinomas than in the early stages of these tumors.", "output": {"entities": {"gene": [{"text": "UCN", "start": 4, "end": 7}], "disease": [{"text": "gastric adenocarcinoma", "start": 116, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the only two families reported in literature thus far with LZTFL1 mutations have in common mesoaxial polydactyly, a very uncommon feature for BBS.", "output": {"entities": {"gene": [{"text": "LZTFL1", "start": 74, "end": 80}], "disease": [{"text": "polydactyly", "start": 116, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LZTFL1", "start": 74, "end": 80}, "tail": {"text": "polydactyly", "start": 116, "end": 127}}]}}, "schema": []}
{"input": "We confirmed in a large cohort of ante/neonatal BS that deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively.", "output": {"entities": {"gene": [{"text": "CLCNKB", "start": 193, "end": 199}], "disease": [{"text": "hyperkalaemia", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Evidence has been provided which indicates that IAPP can inhibit glucose-stimulated insulin secretion by beta cells, and that IAPP can also potentially contribute to the pathogenesis of type 2 diabetes by increasing hepatic glucose output and by inducing peripheral insulin resistance.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 48, "end": 52}], "disease": [{"text": "insulin resistance", "start": 266, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "In H2R KO mice, the infarct size was smaller; myocardial p-ERK1/2, p-DAPK2, and mitochondrial Bax were downregulated.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 59, "end": 63}], "disease": [{"text": "infarct", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "In all cases analyzed, breakpoints on chromosome 18 clustered at the 5' flanking region of the bcl-2 gene, and no rearrangements were found at the major or minor breakpoint clustering region (3' region of bcl-2 gene) typical of the t (14; 18) chromosome translocation.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 95, "end": 105}], "disease": [{"text": "chromosome translocation", "start": 243, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "This is in contrast to the common autophagy inducer (i. e., starvation) that increases LC3B-II but reduces LC3B-I.", "output": {"entities": {"gene": [{"text": "LC3B", "start": 87, "end": 91}], "disease": [{"text": "starvation", "start": 60, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to examine whether thymic stromal lymphopoietin (TSLP), an epithelial-cell-derived cytokine inducing a dendritic cell (DC)-mediated inflammatory Th2 response, is involved in Th2 responses triggering B-cell activation in H. pylori-induced gastritis.", "output": {"entities": {"gene": [{"text": "B-cell activation", "start": 225, "end": 242}], "disease": [{"text": "gastritis", "start": 264, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "The vimentin gene is abundantly expressed in both human and mouse mammary tumor cells and its expression decreased dramatically in normal mammary epithelial cells.", "output": {"entities": {"gene": [{"text": "vimentin gene", "start": 4, "end": 17}], "disease": [{"text": "mammary tumor", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In PTEN mutant cells, PARP inhibition induced a severe genomic instability, exacerbated homologous recombination repair (HR) deficiency and down-regulated the Spindle Assembly Checkpoint (SAC) factor BUBR1, leading to mitotic catastrophe (MC).", "output": {"entities": {"gene": [{"text": "BUBR1", "start": 200, "end": 205}], "disease": [{"text": "genomic instability", "start": 55, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Interphasic FISH using centromeric probe of chromosome 20 detects the presence of a chromosome 20 monosomy in 7% and a duplicated ring chromosome 20 in 8% of studied cells.", "output": {"entities": {"gene": [{"text": "FISH", "start": 12, "end": 16}], "disease": [{"text": "ring chromosome 20", "start": 130, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Genetically engineered hMSC S-TRAIL cells were effective in inhibiting intracranial U87 glioma tumor growth (81. 6%) in vivo and resulted in significantly longer animal survival.", "output": {"entities": {"gene": [{"text": "U87", "start": 84, "end": 87}], "disease": [{"text": "glioma", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.", "output": {"entities": {"gene": [{"text": "RAB3GAP2", "start": 31, "end": 39}], "disease": [{"text": "warburg micro syndrome", "start": 90, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAB3GAP2", "start": 31, "end": 39}, "tail": {"text": "warburg micro syndrome", "start": 90, "end": 112}}]}}, "schema": []}
{"input": "The moxibustion therapies (HPM and MWM) could reduce intestinal inflammation and restore intestinal epithelium barrier disruption in CD, which might be due to down-regulating TNF-α, TNFR1, and TNFR2 in intestinal mucosa and improving intestinal epithelium morphology.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 193, "end": 198}], "disease": [{"text": "inflammation", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "These polyploid tumour cells resist apoptosis, overcome cellular senescence and undergo bi-and multi-polar divisions transmitting the up-regulated OCT4, NANOG and SOX2 self-renewal cassette to their descendents.", "output": {"entities": {"gene": [{"text": "OCT4", "start": 147, "end": 151}], "disease": [{"text": "polyploid", "start": 6, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "This report is the first to relate p. R198W mutation in GJA8 with CCMC.", "output": {"entities": {"gene": [{"text": "GJA8", "start": 56, "end": 60}], "disease": [{"text": "CCMC", "start": 66, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJA8", "start": 56, "end": 60}, "tail": {"text": "CCMC", "start": 66, "end": 70}}]}}, "schema": []}
{"input": "Variables included in the study were dopaminergic genes (ANKK1 TaqI A, DRD2 C957T, DRD4 7R, COMT Val/Met substitution, and SLC6A3 9R) and a GABAergic gene (GABRB3), all combinations of genes, a count of the number of hypodopaminergic genotypes, personality traits, neurocognitive factors, depressive symptoms, and environmental factors.", "output": {"entities": {"gene": [{"text": "COMT", "start": 92, "end": 96}], "disease": [{"text": "personality traits", "start": 245, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Administration of IFN-gamma to C57BL/6 mice decreased Tax (+) tumor growth and prevented tumor-associated bone loss and hypercalcemia.", "output": {"entities": {"gene": [{"text": "IFN", "start": 18, "end": 21}], "disease": [{"text": "hypercalcemia", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "This revealed that the juxtaposition of the bcl-2 and Ig lambda genes is a result of a reciprocal chromosome translocation between chromosomes 18 and 22 with deletions of 2 and 15 bp, respectively.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 44, "end": 49}], "disease": [{"text": "chromosome translocation", "start": 98, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Seven miRNAs of hsa-miR-21, hsa-miR-31, hsa-miR-34a, hsa-miR-22 *, hsa-miR-504, hsa-miR-18a, and hsa-miR-412 were observed to be upregulated greater than twofold in the squamous cell lung carcinoma tissues compared with normal tissues, whereas 23 miRNAs of hsa-miR-30a, hsa-miR-30d, hsa-miR-126, hsa-miR-652, hsa-miR-100, hsa-miR-143, hsa-miR-130a, hsa-miR-145, hsa-miR-30e, hsa-miR-126 *, hsa-miR-181a, hsa-miR-125b, hsa-miR-886-3p, hsa-miR-451, hsa-miR-29c, hsa-miR-26b, hsa-miR-101, hsa-miR-320, hsa-miR-30b, hsa-miR-886-5p, hsa-miR-29a, hsa-miR-26a, and hsa-miR-99a were found to be downregulated greater than twofold.", "output": {"entities": {"gene": [{"text": "hsa-miR-30a", "start": 257, "end": 268}], "disease": [{"text": "squamous cell lung carcinoma", "start": 169, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "We assessed whether the reduced folate carrier [NM_194255. 1: c. 80A--> G (i. e., p. His27Arg)] (RFC-1) polymorphism was associated with placental abruption, and evaluated if maternal smoking modified the association between plasma folate and abruption.", "output": {"entities": {"gene": [{"text": "RFC", "start": 97, "end": 100}], "disease": [{"text": "placental abruption", "start": 137, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "ApoE (-/-) mice (18 months, regular chow) were transfected with PON1 adenovirus (AdPON1, n = 10) or control adenovirus (AdRR5, n = 10).", "output": {"entities": {"gene": [{"text": "PON1", "start": 64, "end": 68}], "disease": [{"text": "adenovirus", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to evaluate associations with albuminuria of six GLUT1 single nucleotide polymorphisms (SNPs), particularly XbaI and the previously associated Enhancer-2 (Enh2) SNP.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 61, "end": 66}], "disease": [{"text": "albuminuria", "start": 42, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The homozygous knockout mouse for the beta3 subunit of the GABAA receptor has been proposed as a model for the neurodevelopmental disorder, Angelman syndrome, based on phenotypic similarities of craniofacial abnormalities, cognitive defects, hyperactivity, motor incoordination, disturbed rest-activity cycles, and epilepsy.", "output": {"entities": {"gene": [{"text": "beta3", "start": 38, "end": 43}], "disease": [{"text": "hyperactivity, motor", "start": 242, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "E-cadherin expression is silenced by 5' CpG island methylation in acute leukemia.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 0, "end": 10}], "disease": [{"text": "acute leukemia", "start": 66, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The TLX1 oncogene drives aneuploidy in T cell transformation.", "output": {"entities": {"gene": [{"text": "TLX1", "start": 4, "end": 8}], "disease": [{"text": "aneuploidy", "start": 25, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLX1", "start": 4, "end": 8}, "tail": {"text": "aneuploidy", "start": 25, "end": 35}}]}}, "schema": []}
{"input": "An adenovirus encoding the complete Mfn2 open reading frame (Ad-Mfn2) exhibited a prominent anti-proliferative effect in the CRC cell lines HCT 116, HT-29, and SW480.", "output": {"entities": {"gene": [{"text": "Mfn2", "start": 36, "end": 40}], "disease": [{"text": "adenovirus", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "The three loci (NOS1 C5266T, TGF-beta1 L10P and TGF-beta1 R25P) have little contribution to the development of childhood asthma in Chinese Han Nationality.", "output": {"entities": {"gene": [{"text": "NOS1", "start": 16, "end": 20}], "disease": [{"text": "childhood asthma", "start": 111, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "5-HT (7) receptors are involved in REM sleep and possibly in mood disorders.", "output": {"entities": {"gene": [{"text": "5-HT (7", "start": 0, "end": 7}], "disease": [{"text": "mood disorders", "start": 61, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (7", "start": 0, "end": 7}, "tail": {"text": "mood disorders", "start": 61, "end": 75}}]}}, "schema": []}
{"input": "The human glioma cell line U87 was transfected with recombinant lentivirus encoding the hNIS gene under the control of cytomegalovirus promoter (U87-hNIS).", "output": {"entities": {"gene": [{"text": "U87", "start": 27, "end": 30}], "disease": [{"text": "glioma", "start": 10, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Novel MSH2 Mutation in the First Report of a Vietnamese-American Kindred with Lynch Syndrome.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 6, "end": 10}], "disease": [{"text": "Lynch Syndrome", "start": 78, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSH2", "start": 6, "end": 10}, "tail": {"text": "Lynch Syndrome", "start": 78, "end": 92}}]}}, "schema": []}
{"input": "Here, we investigated for the first time, the effect of some treatment schedules (i. e. early chronic, sub-chronic and acute) with the specific mTOR inhibitor rapamycin, on the development of absence seizures and seizure parameters as well as depressive-like behavior in WAG/Rij rats, a genetic model of absence epilepsy, epileptogenesis and mild-depression comorbidity.", "output": {"entities": {"gene": [{"text": "mTOR", "start": 144, "end": 148}], "disease": [{"text": "mild-depression", "start": 342, "end": 357}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mTOR", "start": 144, "end": 148}, "tail": {"text": "mild-depression", "start": 342, "end": 357}}]}}, "schema": []}
{"input": "We conclude that the ACE gene D allele polymorphism is a potent risk factor for developing microalbuminuria in type 2 diabetic patients.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 21, "end": 29}], "disease": [{"text": "microalbuminuria", "start": 91, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The objectives of the study were to analyze the involvement of the SHH pathway in human adrenal development and tumorigenesis and the effects of SHH inhibition on an adrenocortical tumor (ACT) cell line.", "output": {"entities": {"gene": [{"text": "SHH", "start": 67, "end": 70}], "disease": [{"text": "tumorigenesis", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Chemokine MCP-3, MIP-1alpha, RANTES mRNA were expressed by the 1st, 2nd and 3rd trimester placental samples and the three choriocarcinoma cell lines examined.", "output": {"entities": {"gene": [{"text": "MCP-3", "start": 10, "end": 15}], "disease": [{"text": "choriocarcinoma", "start": 122, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The product of this chromosomal translocation is the chimeric gene COL1A1-PDGFB (collagen type I alpha I-platelet-derived growth factor beta), which is amplified at low levels in the ring chromosome.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 67, "end": 73}], "disease": [{"text": "chromosomal translocation", "start": 20, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Humans with congenital FXI deficiency have a variable propensity to bleed after trauma or surgery, but do not experience the \" spontaneous \" hemorrhage in joints and soft tissue characteristic of hemophilia (FVIII or FIX deficiency).", "output": {"entities": {"gene": [{"text": "FXI", "start": 23, "end": 26}], "disease": [{"text": "hemorrhage", "start": 141, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Repeated administration of TRH for 7 days at doses of 0. 2-5 mg/kg s. c. elicited a dose-dependent recovery from amnesia induced by scopolamine, whereas only the group treated with 5 mg/kg/day showed a significant improvement.", "output": {"entities": {"gene": [{"text": "TRH", "start": 27, "end": 30}], "disease": [{"text": "amnesia", "start": 113, "end": 120}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRH", "start": 27, "end": 30}, "tail": {"text": "amnesia", "start": 113, "end": 120}}]}}, "schema": []}
{"input": "We investigated the transcriptional pattern of these sequences to determine whether and to what extent their expression is altered in colon tumors and colon cancer cell lines as compared to normal colon mucosa (NCM).", "output": {"entities": {"gene": [{"text": "NCM", "start": 211, "end": 214}], "disease": [{"text": "colon cancer", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Additional study of the therapeutic benefit of targeting bcl-xl gene expression in mesothelioma is warranted.", "output": {"entities": {"gene": [{"text": "bcl-xl", "start": 57, "end": 63}], "disease": [{"text": "mesothelioma", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Recent study demonstrated the important contribution of SOX2 to tumorigenesis and metastasis properties of various types of cancers and strongly supported the concept that SOX2 can be used as an effective marker for diagnosis and predicting prognosis of cancer patients.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 56, "end": 60}], "disease": [{"text": "tumorigenesis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The close links of ORM and measures of adiposity, insulin resistance, and adipose tissue inflammation in humans reinforce previous experimental data and warrant further studies to explore a possible role of ORM in the pathogenesis of obesity-associated metabolic derangements.", "output": {"entities": {"gene": [{"text": "ORM", "start": 19, "end": 22}], "disease": [{"text": "insulin resistance", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Stimulation by S. aureus was relatively weak when compared (i) with stimulation of the same cells by HKLM and PAMPs derived from S. aureus, (ii) with a clone stably transfected with TLR4 and MD-2 and stimulated by E. coli causing mastitis, and (iii) with interferon-gamma-costimulated bovine macrophages stimulated by S. aureus and S. agalactiae.", "output": {"entities": {"gene": [{"text": "MD-2", "start": 191, "end": 195}], "disease": [{"text": "mastitis", "start": 230, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia inducible factor (HIF)-1 plays an important role in cellular adaptation to hypoxia by activating oxygen-regulated genes such as vascular endothelial growth factor (VEGF) and erythropoietin.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 172, "end": 176}], "disease": [{"text": "hypoxia", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss, and renal anomalies.", "output": {"entities": {"gene": [{"text": "BOR", "start": 20, "end": 23}], "disease": [{"text": "branchial cysts", "start": 104, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "However, the biochemical pathways regulating IL-17A combined with hypoxia are not well defined.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 45, "end": 51}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Intraductal papillary neoplasia of the liver (IPNL) frequently presents gastrointestinal metaplasia with aberrant expression of MUC2 and MUC5AC and oversecretion of mucin into the ductal lumen.", "output": {"entities": {"gene": [{"text": "MUC5AC", "start": 137, "end": 143}], "disease": [{"text": "metaplasia", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "These observations for the first time directly connect constitutive hypoxia with VEGF upregulation in scleroderma patients.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 81, "end": 85}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Stepwise multivariable regression was performed to develop predictive models for PDI and MDI scores.", "output": {"entities": {"gene": [{"text": "PDI", "start": 81, "end": 84}], "disease": [{"text": "regression", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "By using MLN4924, a small molecule inhibitor of NEDD8-Activating Enzyme (NAE), that inactivates SAG-SCF E3 ligase by blocking cullin neddylation, we were able to sensitize two otherwise resistant leukemia cell lines, HL-60 and KG-1 to RA.", "output": {"entities": {"gene": [{"text": "SCF", "start": 100, "end": 103}], "disease": [{"text": "leukemia", "start": 196, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "The immunostaining results show over-to moderate expression of cortactin in 85% (104/122) of oral squamous cell carcinoma (OSCC) tissues and in all 15 leukoplakia tissues examined.", "output": {"entities": {"gene": [{"text": "cortactin", "start": 63, "end": 72}], "disease": [{"text": "leukoplakia", "start": 151, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cortactin", "start": 63, "end": 72}, "tail": {"text": "leukoplakia", "start": 151, "end": 162}}]}}, "schema": []}
{"input": "Here, we report that intrathecal injection of an siRNA against the transient receptor potential vanilloid receptor 1 (TRPV1) reduced cold allodynia of mononeuropathic rats by more than 50% over a time period of approximately 5 days.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 118, "end": 123}], "disease": [{"text": "cold", "start": 133, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "However, succinate dehydrogenase mutations (germline and somatic) and functional dedifferentiation do not adequately explain (18) F-FDG uptake since most tumors were highly avid for (18) F-FDG.", "output": {"entities": {"gene": [{"text": "FDG", "start": 132, "end": 135}], "disease": [{"text": "dedifferentiation", "start": 81, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "RGS2, one of the RGS families, has been suggested to plays a role in anxiety and/or aggressive behavior.", "output": {"entities": {"gene": [{"text": "RGS2", "start": 0, "end": 4}], "disease": [{"text": "aggressive behavior", "start": 84, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Thus, the role of SH2B1 in both obesity and insulin resistance makes it a strong candidate for T2D.", "output": {"entities": {"gene": [{"text": "SH2B1", "start": 18, "end": 23}], "disease": [{"text": "insulin resistance", "start": 44, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the contribution of these mutations to the genesis of sporadic medulloblastomas, we screened a series of unselected patients with medulloblastoma for germline SUFU mutations.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 171, "end": 175}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Tumorigenic mechanisms for PTTG1 action involve cell transformation and aneuploidy, apoptosis, and tumorigenic microenvironment feedback.", "output": {"entities": {"gene": [{"text": "PTTG1", "start": 27, "end": 32}], "disease": [{"text": "aneuploidy", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-18 (IL-18) is a Th1 cytokine, which is postulated to play a role in systemic lupus erythematosus (SLE).", "output": {"entities": {"gene": [{"text": "Th1", "start": 28, "end": 31}], "disease": [{"text": "systemic lupus erythematosus", "start": 80, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis that a variation in DAAO genotype would be associated with altered prefrontal function and altered functional connectivity in schizophrenia and bipolar disorder.", "output": {"entities": {"gene": [{"text": "DAAO", "start": 45, "end": 49}], "disease": [{"text": "bipolar disorder", "start": 169, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DAAO", "start": 45, "end": 49}, "tail": {"text": "bipolar disorder", "start": 169, "end": 185}}]}}, "schema": []}
{"input": "The prevalence of ATM [i. e., myocardial infarction, angina pectoris with intervention, deep vein thrombosis/pulmonary embolism (DVT/PE), and/or stroke/transient ischemic attack (TIA)] was recorded.", "output": {"entities": {"gene": [{"text": "ATM", "start": 18, "end": 21}], "disease": [{"text": "transient ischemic attack", "start": 152, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "MRI evaluation of the pituitary indicated pituitary aplasia in all subjects.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "aplasia", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Genetic analysis of 8; 21 chromosomal translocation without AML1 gene involvement in MDS-AML.", "output": {"entities": {"gene": [{"text": "AML1", "start": 60, "end": 64}], "disease": [{"text": "chromosomal translocation", "start": 26, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of SENP2 resulted in premature death of mice with CHDs-atrial septal defects (ASDs) and/or ventricular septal defects (VSDs).", "output": {"entities": {"gene": [{"text": "SENP2", "start": 18, "end": 23}], "disease": [{"text": "atrial septal defects", "start": 70, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Changes in GFAP expression and/or phosphorylation have been reported during brain damage or central nervous system degeneration.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 11, "end": 15}], "disease": [{"text": "central nervous system degeneration", "start": 92, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.", "output": {"entities": {"gene": [{"text": "ZNF142", "start": 22, "end": 28}], "disease": [{"text": "seizures", "start": 122, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZNF142", "start": 22, "end": 28}, "tail": {"text": "seizures", "start": 122, "end": 130}}]}}, "schema": []}
{"input": "We established the mutation frequency of C9ORF72, SOD1, TARDBP, and FUS genes in 307 patients with sporadic ALS, 46 patients with familial ALS (FALS), and 73 patients affected with FTD, all originating from the northeastern part of Italy.", "output": {"entities": {"gene": [{"text": "FUS", "start": 68, "end": 71}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Although the expression of erythropoietin in Hep3B cells was induced in response to the hypoxia-mimicking agent CoCl₂, there was no concomitant induction in FAC expression as assessed by mRNA levels and immunoprecipitable protein, and no detectable change in the cytoplasmic location of the FAC polypeptide as determined by indirect immunofluorescence.", "output": {"entities": {"gene": [{"text": "FAC", "start": 157, "end": 160}], "disease": [{"text": "hypoxia", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The genes involved in this translocation have been identified to be API2 on chromosome 11, which encodes an apoptotic inhibitor, and MALT1, a novel gene on chromosome 18.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 133, "end": 138}], "disease": [{"text": "translocation", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We combined computer-aided drug design with functional assays to identify low-molecular-weight compounds that bind to the corepressor binding groove of the BCL6 BTB domain.", "output": {"entities": {"gene": [{"text": "BCL6", "start": 156, "end": 160}], "disease": [{"text": "weight", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In males carriage of the T allele of PTPN22 + 1858 was associated significantly with IMT in univariate and multivariate analyses, while in females it was associated with several risk factors for atherosclerosis (BMI, waist circumference, waist-to-hip ratio, serum concentrations of C-reactive protein and triglycerides) but not with IMT.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 282, "end": 300}], "disease": [{"text": "waist-to-hip ratio", "start": 238, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B.", "output": {"entities": {"gene": [{"text": "PCNT", "start": 200, "end": 204}], "disease": [{"text": "developmental dyslexia", "start": 97, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In summary, our findings indicate an interaction of SUN5 with DNAJB13 during spermatogenesis, provide mechanistic insights into the functional role of this interaction in sperm head-tail integration, and elucidate the molecular etiology of acephalic spermatozoa syndrome-associated & lt; i & gt; SUN5 & lt;/i & gt; mutations.", "output": {"entities": {"gene": [{"text": "SUN5", "start": 52, "end": 56}], "disease": [{"text": "acephalic spermatozoa syndrome", "start": 240, "end": 270}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUN5", "start": 52, "end": 56}, "tail": {"text": "acephalic spermatozoa syndrome", "start": 240, "end": 270}}]}}, "schema": []}
{"input": "Most sporadic follicular carcinomas positive for PAX8-PPARgamma were overtly invasive, whereas tumors lacking the rearrangement were predominantly minimally invasive.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 49, "end": 53}], "disease": [{"text": "sporadic", "start": 5, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "This suggests that loss of SIRT1 expression is associated with the microsatellite instability phenotype of colorectal adenocarcinoma.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 27, "end": 32}], "disease": [{"text": "microsatellite instability", "start": 67, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The aim of this work was to examine the involvement of rck/p54 in carcinogenesis of hepatocellular carcinoma from HCV-related chronic hepatitis.", "output": {"entities": {"gene": [{"text": "p54", "start": 59, "end": 62}], "disease": [{"text": "chronic hepatitis", "start": 126, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "An additive effect on the risk of esophageal carcinoma development was found among individuals carrying LMP7/TAP2 haplotype C and infected by HPV (OR = 4. 33, 95% CI = 2. 53-7. 42, P < 0. 0001).", "output": {"entities": {"gene": [{"text": "TAP2", "start": 109, "end": 113}], "disease": [{"text": "esophageal carcinoma", "start": 34, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Mutations associated with sialuria are located in the epimerase domain, and those associated with IBM2 are in the epimerase or the kinase domain or both, whereas the mutations we observed in the Nonaka myopathy patients were located in the sugar kinase domain of the gene.", "output": {"entities": {"gene": [{"text": "IBM2", "start": 98, "end": 102}], "disease": [{"text": "Nonaka myopathy", "start": 195, "end": 210}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IBM2", "start": 98, "end": 102}, "tail": {"text": "Nonaka myopathy", "start": 195, "end": 210}}]}}, "schema": []}
{"input": "IL-17A and ischaemia/reperfusion (I/R) injury were found to have an additive effect on Cxcl1 expression, suggesting that IL-17 may enhance myocardial neutrophil recruitment during MI.", "output": {"entities": {"gene": [{"text": "Cxcl1", "start": 87, "end": 92}], "disease": [{"text": "ischaemia", "start": 11, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Here we show that lithium, a pharmacological agent used for the management of psychiatric disorders such as bipolar disorder, schizophrenia, and depression, regulates Akt/glycogen synthase kinase 3 (GSK3) signaling and related behaviors in mice by disrupting a signaling complex composed of Akt, beta-arrestin 2, and protein phosphatase 2A.", "output": {"entities": {"gene": [{"text": "beta-arrestin 2", "start": 296, "end": 311}], "disease": [{"text": "depression", "start": 145, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-arrestin 2", "start": 296, "end": 311}, "tail": {"text": "depression", "start": 145, "end": 155}}]}}, "schema": []}
{"input": "With the aim of identifying new molecular targets for breast cancer therapy, we have identified the liver receptor homolog-1 (LRH-1) as an estrogen-regulated gene.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 139, "end": 162}], "disease": [{"text": "breast cancer", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that mutations in the coding region of the SLC22A5 gene cannot be identified in about 16% of the alleles causing primary carnitine deficiency.", "output": {"entities": {"gene": [{"text": "SLC22A5", "start": 66, "end": 73}], "disease": [{"text": "carnitine deficiency", "start": 144, "end": 164}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC22A5", "start": 66, "end": 73}, "tail": {"text": "carnitine deficiency", "start": 144, "end": 164}}]}}, "schema": []}
{"input": "The present study revealed that c-kit protein ectopically expressed in SCLC is indistinguishable from that in leukemia cell lines with megakaryocytic characteristics with respect to amount, molecular size, and autophosphorylation status in response to recombinant human SCF.", "output": {"entities": {"gene": [{"text": "SCF", "start": 270, "end": 273}], "disease": [{"text": "leukemia", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Taken together, it is suggested that the activation of PERK and ATF6 pathway are the major determinant rather than the IRE-1α-XBP1 pathway for the ERS-mediated metabolic dysfunction, which might eventually leads to diabetic cardiomyopathy in non-obese type 2 DM.", "output": {"entities": {"gene": [{"text": "PERK", "start": 55, "end": 59}], "disease": [{"text": "obese", "start": 246, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "However, little is known yet about association between LRRC4 and risk of pituitary adenoma.", "output": {"entities": {"gene": [{"text": "LRRC4", "start": 55, "end": 60}], "disease": [{"text": "pituitary adenoma", "start": 73, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Here we report on three unrelated patients with CBL mutations manifesting with hydrops fetalis, fetal pleural effusions and/or congenital hydro-/chylothorax.", "output": {"entities": {"gene": [{"text": "CBL", "start": 48, "end": 51}], "disease": [{"text": "hydrops fetalis", "start": 79, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Hyperoxia also has the potential to be used therapeutically to down-regulate VEGF expression in hypoxic retina in the hope of limiting the neovascular complications of ROP.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 77, "end": 81}], "disease": [{"text": "hypoxic", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus.", "output": {"entities": {"gene": [{"text": "ANKS6", "start": 35, "end": 40}], "disease": [{"text": "liver fibrosis", "start": 128, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANKS6", "start": 35, "end": 40}, "tail": {"text": "liver fibrosis", "start": 128, "end": 142}}]}}, "schema": []}
{"input": "We screened kryo-preserved tissue of cutaneous T cell lymphoma (CTCL, n = 36) such as mycosis fungoides (MF, n = 17), pleomorphic cutaneous T-cell lymphoma (n = 8) and Sezary' s syndrome (SS, n = 11) as well as a non-malignant entity (small plaques parapsoriasis, SPP, n = 5), for the expression of CTA by RT-PCR and Northern blot hybridization.", "output": {"entities": {"gene": [{"text": "CTA", "start": 299, "end": 302}], "disease": [{"text": "mycosis fungoides", "start": 86, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Both ACT-TT genotype and T-allele were significantly more prevalent in patients with PSD than in non-demented stroke patients, controls or patients with PRESD.", "output": {"entities": {"gene": [{"text": "PSD", "start": 85, "end": 88}], "disease": [{"text": "stroke", "start": 110, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The frequency of factor V Leiden mutation, ACE gene polymorphism, serum ACE activity and response to ACE inhibitor and angiotensin II receptor antagonist drugs in Iranians type II diabetic patients with microalbuminuria.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 43, "end": 51}], "disease": [{"text": "microalbuminuria", "start": 203, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "This study tested the hypothesis that therapeutic siRNA-loaded photoluminescent mesoporous silicon nanoparticles (PMSNs) targeting CCR2 expression in Ly6C (high) inflammatory monocytes decrease the accumulation of these cells in the infarct, improve the efficacy of MSC transplantation and attenuate myocardial remodeling.", "output": {"entities": {"gene": [{"text": "MSC", "start": 266, "end": 269}], "disease": [{"text": "infarct", "start": 233, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Hematologic toxicity such as neutropenia, thrombocytopenia, and anemia were not different by the three tSNPs or haplotypes (CGT, CAT, and CAC) of DCK.", "output": {"entities": {"gene": [{"text": "CGT", "start": 124, "end": 127}], "disease": [{"text": "thrombocytopenia", "start": 42, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.", "output": {"entities": {"gene": [{"text": "TTPA", "start": 109, "end": 113}], "disease": [{"text": "Ataxia with isolated vitamin E deficiency", "start": 0, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTPA", "start": 109, "end": 113}, "tail": {"text": "Ataxia with isolated vitamin E deficiency", "start": 0, "end": 41}}]}}, "schema": []}
{"input": "Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear.", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 17, "end": 25}], "disease": [{"text": "sporadic", "start": 153, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that human eosinophils represent a potential source of TNF-alpha and MIP-1 alpha, that levels of expression of mRNA for both cytokines are high in the blood eosinophils of hypereosinophilic donors and in eosinophils infiltrating nasal polyps, that the eosinophils of normal subjects express higher levels of TNF-alpha than MIP-1 alpha mRNA, and that eosinophils purified from the blood of atopic donors can release TNF-alpha in vitro.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 79, "end": 88}], "disease": [{"text": "atopic", "start": 413, "end": 419}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate, for the first time, that MLC1 plays a role in astrocyte osmo-homeostasis and that defects in intracellular calcium dynamics may contribute to MLC pathogenesis.", "output": {"entities": {"gene": [{"text": "MLC1", "start": 49, "end": 53}], "disease": [{"text": "MLC", "start": 49, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLC1", "start": 49, "end": 53}, "tail": {"text": "MLC", "start": 49, "end": 52}}]}}, "schema": []}
{"input": "Although larger studies are required, this case report suggests that thrombomodulin gene mutations could be an additional genetic risk factor for thrombosis in carriers of the factor V Leiden mutation.", "output": {"entities": {"gene": [{"text": "thrombomodulin", "start": 69, "end": 83}], "disease": [{"text": "thrombosis", "start": 146, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "thrombomodulin", "start": 69, "end": 83}, "tail": {"text": "thrombosis", "start": 146, "end": 156}}]}}, "schema": []}
{"input": "Non-muscle myosin heavy chain 9 gene MYH9 associations in African Americans with clinically diagnosed type 2 diabetes mellitus-associated ESRD.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 18, "end": 29}], "disease": [{"text": "type 2 diabetes mellitus", "start": 102, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Among several non random chromosomal aberrations detected in BTC cell lines by comparative genomic hybridization, gain/ampli-fication of DNA at 5p was the most frequently observed alteration.", "output": {"entities": {"gene": [{"text": "BTC", "start": 61, "end": 64}], "disease": [{"text": "chromosomal aberrations", "start": 25, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the corresponding human gene (PAH), which encodes the human hepatic PAH enzyme, result in hyperphenylalaninemia; the resulting phenotypes can range in severity from mild forms of hyperphenylalaninemia with benign outcome to the severe form, phenylketonuria with impaired cognitive development.", "output": {"entities": {"gene": [{"text": "PAH", "start": 43, "end": 46}], "disease": [{"text": "phenylketonuria", "start": 254, "end": 269}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAH", "start": 43, "end": 46}, "tail": {"text": "phenylketonuria", "start": 254, "end": 269}}]}}, "schema": []}
{"input": "CCAAT-enhancer-binding protein beta (CEBPB) is a pluripotent transcription factor that controls inflammation, proliferation, and differentiation.", "output": {"entities": {"gene": [{"text": "CEBPB", "start": 37, "end": 42}], "disease": [{"text": "inflammation", "start": 96, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We identify CNOT3 as a tumor suppressor mutated in 7 of 89 (7. 9%) adult T-ALLs, and its knockdown causes tumors in a sensitized Drosophila melanogaster model.", "output": {"entities": {"gene": [{"text": "CNOT3", "start": 12, "end": 17}], "disease": [{"text": "T-ALL", "start": 73, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CNOT3", "start": 12, "end": 17}, "tail": {"text": "T-ALL", "start": 73, "end": 78}}]}}, "schema": []}
{"input": "The human t (14; 18) chromosomal translocation is assumed to result from illegitimate rearrangement between BCL-2 and D (H)/J (H) gene segments during V (D) J recombination in early B cells.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 108, "end": 113}], "disease": [{"text": "chromosomal translocation", "start": 21, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "To understand the molecular basis of LPL deficiency, two siblings with drastically reduced postheparin plasma lipolytic activities were selected for analysis of their LPL gene.", "output": {"entities": {"gene": [{"text": "LPL", "start": 37, "end": 40}], "disease": [{"text": "LPL deficiency", "start": 37, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 37, "end": 40}, "tail": {"text": "LPL deficiency", "start": 37, "end": 51}}]}}, "schema": []}
{"input": "Rod ERG abnormalities may be present in heterozygous carriers of AIPL1 mutations.", "output": {"entities": {"gene": [{"text": "ERG", "start": 4, "end": 7}], "disease": [{"text": "abnormalities", "start": 8, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Expression levels of macrophage genes (CD68, CD11b, CD206, CD16, CD40, and CD163) were lower in skeletal muscle tissue of obese versus lean participants.", "output": {"entities": {"gene": [{"text": "CD163", "start": 75, "end": 80}], "disease": [{"text": "obese", "start": 122, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD163", "start": 75, "end": 80}, "tail": {"text": "obese", "start": 122, "end": 127}}]}}, "schema": []}
{"input": "In NSCLCs, EGFR mutations were detected in 75 cases (53. 2%) and were significantly associated with adenocarcinoma, female sex, and never smoking.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 11, "end": 15}], "disease": [{"text": "smoking", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In vivo chromatin immunoprecipitation assay demonstrated that NS-398 induces the enhancement of HIF-1α binding on VEGF promoter, leading to the increase in VEGF gene expression in hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 114, "end": 118}], "disease": [{"text": "hypoxic", "start": 180, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Topical antiangiogenic SRPK1 inhibitors reduce choroidal neovascularization in rodent models of exudative AMD.", "output": {"entities": {"gene": [{"text": "SRPK1", "start": 23, "end": 28}], "disease": [{"text": "choroidal neovascularization", "start": 47, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "BRCA1 and BRCA2 mutations, which occur in most hereditary ovarian cancers (OCs) and approximately 10% of all OC cases, are associated with defects in homologous recombination and genomic instability, a phenotype termed' BRCAness'.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "genomic instability", "start": 179, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Although these MRI features were suggestive of Rathke' s cleft cyst, cystic craniopharyngioma or previous hemorrhage, no visual symptoms, diabetes insipidus and/or hyperprolactinemia were present.", "output": {"entities": {"gene": [{"text": "MRI", "start": 15, "end": 18}], "disease": [{"text": "hyperprolactinemia", "start": 164, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "In contrast to its link with the ACE D/I genotype, microalbuminuria was independent of TGF-beta-1 polymorphism in this group of never-treated, uncomplicated essential hypertensive men.", "output": {"entities": {"gene": [{"text": "ACE", "start": 33, "end": 36}], "disease": [{"text": "microalbuminuria", "start": 51, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Analysis of t (X; 18) translocation in synovial sarcoma had previously led to the definition of the SSX2 gene, the fusion partner on chromosome X.", "output": {"entities": {"gene": [{"text": "SSX2 gene", "start": 100, "end": 109}], "disease": [{"text": "translocation", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Angiotensin II (Ang II)-induced hypertrophy of vascular smooth muscle cells (VSMCs) is a pivotal step in the development of cardiovascular disease.", "output": {"entities": {"gene": [{"text": "Angiotensin II", "start": 0, "end": 14}], "disease": [{"text": "hypertrophy", "start": 32, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angiotensin II", "start": 0, "end": 14}, "tail": {"text": "hypertrophy", "start": 32, "end": 43}}]}}, "schema": []}
{"input": "Also, transfection with DDR2 siRNA decreased the VEGF expression level of SNU387, 423, 449 cells under hypoxia conditions (P < 0. 05).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxia", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The impaired GPIIb-IIIa transport is responsible for the thrombasthenia in this patient.", "output": {"entities": {"gene": [{"text": "GPIIb", "start": 13, "end": 18}], "disease": [{"text": "thrombasthenia", "start": 57, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPIIb", "start": 13, "end": 18}, "tail": {"text": "thrombasthenia", "start": 57, "end": 71}}]}}, "schema": []}
{"input": "These include the TRP vanilloid subtypes 1 (TRPV1), 2, 3, and 4, the cold and menthol receptor TRPM8, and TRPA1.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 95, "end": 100}], "disease": [{"text": "cold", "start": 69, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We report that the c-Jun NH2-terminal kinase (JNK) signaling pathway mediates neurodegeneration in SMA.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 19, "end": 24}], "disease": [{"text": "neurodegeneration", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Cerebral magnetic resonance imaging (MRI) showed hypoplastic anterior pituitary, flat sella turcica, absent pituitary stalk with ectopic posterior pituitary as well as agenesis of the left ICA and the left carotid canal.", "output": {"entities": {"gene": [{"text": "MRI", "start": 37, "end": 40}], "disease": [{"text": "agenesis", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expression of nucleophosmin/B23 in gastric cancers (T) and the matched adjacent \" normal \" gastric mucosa (N) obtained from patients without any preoperative treatment were determined.", "output": {"entities": {"gene": [{"text": "nucleophosmin", "start": 23, "end": 36}], "disease": [{"text": "gastric cancers", "start": 44, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nucleophosmin", "start": 23, "end": 36}, "tail": {"text": "gastric cancers", "start": 44, "end": 59}}]}}, "schema": []}
{"input": "We analyzed polymorphic variants of DNA repair and detoxification genes in patients with multiple sclerosis (MS) who developed secondary acute promyelocytic leukemia (sAPL), in most cases after treatment with mitoxantrone (MTZ).", "output": {"entities": {"gene": [{"text": "sAPL", "start": 167, "end": 171}], "disease": [{"text": "multiple sclerosis", "start": 89, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The use of various model systems and the study of human disease should continue to lead to rapid advances in our understanding of the role of p63 in development, epithelial cell maintenance and tumorigenesis.", "output": {"entities": {"gene": [{"text": "p63", "start": 142, "end": 145}], "disease": [{"text": "tumorigenesis", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Renal amyloidosis is characterized by the pathologic deposition within glomeruli and/or interstitium of congophilic fibrils, most often composed of either immunoglobulin light chains or serum amyloid A-related protein and, less commonly, mutated forms of apolipoproteins AI or AII, lysozyme, fibrinogen, gelsolin, or transthyretin.", "output": {"entities": {"gene": [{"text": "Renal amyloidosis", "start": 0, "end": 17}], "disease": [{"text": "fibrinogen", "start": 292, "end": 302}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the mRNA expression levels of HIF-1 (& #945; and & #946;) and its target genes (VEGF, GLUT1, PGK1, PFKFB3, and LDHA) in the peripheral white blood cells of patients with major depressive disorder (MDD) and bipolar disorder (BPD).", "output": {"entities": {"gene": [{"text": "LDHA", "start": 149, "end": 153}], "disease": [{"text": "bipolar disorder", "start": 244, "end": 260}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LDHA", "start": 149, "end": 153}, "tail": {"text": "bipolar disorder", "start": 244, "end": 260}}]}}, "schema": []}
{"input": "The gene CSTF2T, encoding the human variant CstF-64 polyadenylation protein tauCstF-64, lacks introns and may be associated with male sterility.", "output": {"entities": {"gene": [{"text": "CstF-64", "start": 44, "end": 51}], "disease": [{"text": "male sterility", "start": 129, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Of the 21 patients who had autoimmune hepatitis that was completely responsive to steroid therapy, 18 had anti-HCV by ELISA-I, but 13 of these patients had negative results by RIBA-II, and only two patients had HCV RNA.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 176, "end": 180}], "disease": [{"text": "autoimmune hepatitis", "start": 27, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In the Avon Longitudinal Study of Parents and Children, rapid infancy weight gain was associated with increased risk of obesity at 5 and 8 years, with evidence of insulin resistance, exaggerated adrenarche and reduced levels of sex hormone binding globulin (SHBG).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 258, "end": 262}], "disease": [{"text": "weight gain", "start": 70, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "348 tumours were examined for microsatellite instability (MSI) and expression of MMR proteins.", "output": {"entities": {"gene": [{"text": "MMR", "start": 81, "end": 84}], "disease": [{"text": "microsatellite instability", "start": 30, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Recently, molecular mechanisms underlying possible tumour suppressor genes (MEN1, CDC73/HRPT2, CDKIs, APC, SFRPs, GSK3β, RASSF1A, HIC1, RIZ1, WT1, CaSR, GNA11, AP2S1) and proto-oncogenes (CCND1/PRAD1, RET, ZFX, CTNNB1, EZH2) have been uncovered in the pathogenesis of hyperparathyroidism.", "output": {"entities": {"gene": [{"text": "AP2S1", "start": 160, "end": 165}], "disease": [{"text": "tumour", "start": 51, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.", "output": {"entities": {"gene": [{"text": "KAT6B", "start": 13, "end": 18}], "disease": [{"text": "Genitopatellar syndrome", "start": 64, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KAT6B", "start": 13, "end": 18}, "tail": {"text": "Genitopatellar syndrome", "start": 64, "end": 87}}]}}, "schema": []}
{"input": "Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C.", "output": {"entities": {"gene": [{"text": "protein C", "start": 98, "end": 107}], "disease": [{"text": "amyloid", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We previously reported that compared to health controls, patients with liver cirrhosis present the highest levels of circulating miR-885-5p, followed by those with chronic hepatitis B and those with HCC.", "output": {"entities": {"gene": [{"text": "miR-885", "start": 129, "end": 136}], "disease": [{"text": "chronic hepatitis B", "start": 164, "end": 183}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-885", "start": 129, "end": 136}, "tail": {"text": "chronic hepatitis B", "start": 164, "end": 183}}]}}, "schema": []}
{"input": "After 72 h of nickel exposure (70 microg Ni/m3), transgenic lines with intermediate levels of the TGF-alpha expression demonstrated attenuation of lung injury.", "output": {"entities": {"gene": [{"text": "TGF-alpha", "start": 98, "end": 107}], "disease": [{"text": "lung injury", "start": 147, "end": 158}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TGF-alpha", "start": 98, "end": 107}, "tail": {"text": "lung injury", "start": 147, "end": 158}}]}}, "schema": []}
{"input": "The present experience includes PGD for sickle cell disease, α-and β-thalassemia (α-and β-thal).", "output": {"entities": {"gene": [{"text": "PGD", "start": 32, "end": 35}], "disease": [{"text": "sickle cell disease", "start": 40, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Aneuploidy is associated with genomic instability and may underlie the tumor-promoting properties of PGF (2alpha).", "output": {"entities": {"gene": [{"text": "PGF", "start": 101, "end": 104}], "disease": [{"text": "genomic instability", "start": 30, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Transcriptome analysis performed on 37 HCC needle biopsies (matched with their corresponding non-neoplastic parenchyma) and five normal liver donor samples revealed that SH2D4A is downregulated in HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 39, "end": 42}], "disease": [{"text": "non-neoplastic", "start": 93, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The tumor-suppressor, phosphatase and tensin homolog deleted on chromosome 10 (PTEN), was identified as a bona fide target of both miR-92a and miR-19a in cholangiocarcinoma cells via sequence prediction, 3' untranslated region luciferase activity assay, and Western blot analysis.", "output": {"entities": {"gene": [{"text": "19a", "start": 147, "end": 150}], "disease": [{"text": "cholangiocarcinoma", "start": 154, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetic analysis carried out in 28 adipose tissue tumors diagnosed microscopically as myxoid liposarcoma (ML) revealed a t (12; 16) (q13: p11) chromosomal translocation in 26 of the 28 cases.", "output": {"entities": {"gene": [{"text": "p11", "start": 142, "end": 145}], "disease": [{"text": "myxoid liposarcoma", "start": 90, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In primary CLL samples, cellular subsets with high ZAP-70 expression had increased expression of adhesion molecules and chemokine receptors in addition to an enhanced ability to migrate toward CCL21.", "output": {"entities": {"gene": [{"text": "ZAP-70", "start": 51, "end": 57}], "disease": [{"text": "adhesion", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Recombinant adenovirus vectors (RAds) expressing truncated, secreted forms of human Tie2 (RAd-sTie2) and vascular endothelial growth factor receptor 1 (RAd-sVEGFR1) or a truncated, dominant-negative fibroblast growth factor receptor 1 (RAdDN-FGFR1) were used.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 242, "end": 247}], "disease": [{"text": "adenovirus", "start": 12, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF), a key mediator of intraocular neovascularization, is triggered by hypoxia and has been shown in the eyes of animal models of central retinal vein occlusion (CRVO).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxia", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Using a lung carcinoma line, which grows in C57BL/6J mice, we observed that when the tumour grew and cachexia was observed, the splenocytes produced IL-6, IL-11, and OSM, but not LIF.", "output": {"entities": {"gene": [{"text": "OSM", "start": 166, "end": 169}], "disease": [{"text": "lung carcinoma", "start": 8, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "GDNF therapy did not significantly reduce amyloid and tau pathology, but rather, induced a potent upregulation of brain-derived neurotrophic factor that may act in concert with GDNF to protect neurons from atrophy and degeneration.", "output": {"entities": {"gene": [{"text": "brain-derived neurotrophic factor", "start": 114, "end": 147}], "disease": [{"text": "atrophy", "start": 206, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "The most frequent cytogenetic abnormality is a break in the q 31-35 region of chromosome 5, where genes encoding for IL-3, IL-5 and GM-CSF (all cytokines involved in eosinophilopoiesis) are located.", "output": {"entities": {"gene": [{"text": "IL-5", "start": 123, "end": 127}], "disease": [{"text": "cytogenetic abnormality", "start": 18, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The hepatic hydroxyproline content and serum hyaluronic acid were also significantly increased in TIMP-Tg-mice, whereas CCl (4)-induced liver dysfunction was not altered.", "output": {"entities": {"gene": [{"text": "TIMP", "start": 98, "end": 102}], "disease": [{"text": "liver dysfunction", "start": 136, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The cylindromatosis gene (CYLD) was identified as a tumor suppressor gene, which is mutated in familial cylindromatosis (Brooke-Spiegler syndrome), an autosomal-dominant predisposition to multiple tumors of the skin appendages.", "output": {"entities": {"gene": [{"text": "CYLD", "start": 26, "end": 30}], "disease": [{"text": "multiple tumors", "start": 188, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "To date, 19 genetic variants have been identified in the cationic trypsinogen gene (PRSS1) of patients with hereditary, familial, or sporadic chronic pancreatitis.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 84, "end": 89}], "disease": [{"text": "sporadic", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetic analysis of von Hippel-Lindau tumor suppressor gene (VHL gene) was performed on 38 tissues of human glial tumors (ependymoma, 1; astrocytoma, 6; oligodendroglioma, 1; oligoastrocytoma, 2; anaplastic oligoastrocytoma, 3; anaplastic astrocytoma, 14; glioblastoma multiforme, 11).", "output": {"entities": {"gene": [{"text": "VHL gene", "start": 71, "end": 79}], "disease": [{"text": "ependymoma", "start": 132, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The presence of mRNA coding for HPRT, IL-6, IL-1beta, IL-8, and TNFalpha was investigated in 20 vitreous and subretinal fluid (SRF) samples from patients with PVR by reverse transcriptase polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "IL-8", "start": 54, "end": 58}], "disease": [{"text": "subretinal fluid", "start": 109, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "NF-κB is constitutively active in most tumor cells, and its suppression inhibits the growth of tumor cells, leading to the concept of' NF-κB addiction' in cancer cells.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 0, "end": 5}], "disease": [{"text": "addiction", "start": 141, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of NKX2-5 mutations in sporadic cases of ASD/PFO and other forms of congenital heart disease is unknown.", "output": {"entities": {"gene": [{"text": "NKX2-5", "start": 18, "end": 24}], "disease": [{"text": "sporadic", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Immunofluorescence microscopy of WDM biopsies showed a focal increase of TIA1 in atrophic and vacuolated fibers.", "output": {"entities": {"gene": [{"text": "TIA1", "start": 73, "end": 77}], "disease": [{"text": "WDM", "start": 33, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TIA1", "start": 73, "end": 77}, "tail": {"text": "WDM", "start": 33, "end": 36}}]}}, "schema": []}
{"input": "Circulating tumor cells predict progression-free and overall survival in Chinese patients with metastatic breast cancer, HER2-positive or triple-negative (CBCSG004): a multicenter, double-blind, prospective trial.", "output": {"entities": {"gene": [{"text": "HER2", "start": 121, "end": 125}], "disease": [{"text": "blind", "start": 188, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We find a positive correlation between Runx2, IL-11 and TGFβ1, a driver of the vicious cycle of metastatic bone disease, in prostate cancer (PC) cell lines representing early (LNCaP) and late (PC3) stage disease.", "output": {"entities": {"gene": [{"text": "PC3", "start": 193, "end": 196}], "disease": [{"text": "bone disease", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to review the clinical features of 29 infants affected with SMARD1 and report on 26 novel IGHMBP2 mutations.", "output": {"entities": {"gene": [{"text": "IGHMBP2", "start": 102, "end": 109}], "disease": [{"text": "SMARD1", "start": 72, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IGHMBP2", "start": 102, "end": 109}, "tail": {"text": "SMARD1", "start": 72, "end": 78}}]}}, "schema": []}
{"input": "On the other hand, GIPC1 mRNA was almost undetectable in leukemia/lymphoma cell lines HL-60, Raji, and Daudi.", "output": {"entities": {"gene": [{"text": "GIPC1", "start": 19, "end": 24}], "disease": [{"text": "lymphoma", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "These results clearly indicate that the cell lines TSU-Pr1 and JCA-1 are not of prostatic origin but are derivatives of the bladder carcinoma cell line T24.", "output": {"entities": {"gene": [{"text": "Pr1", "start": 55, "end": 58}], "disease": [{"text": "bladder carcinoma", "start": 124, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Fetus-derived DLK1 is required for maternal metabolic adaptations to pregnancy and is associated with fetal growth restriction.", "output": {"entities": {"gene": [{"text": "DLK1", "start": 14, "end": 18}], "disease": [{"text": "fetal growth restriction", "start": 102, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DLK1", "start": 14, "end": 18}, "tail": {"text": "fetal growth restriction", "start": 102, "end": 126}}]}}, "schema": []}
{"input": "Semiquantitative reverse transcription-PCR experiments revealed that expression of ENC1 was increased in more than two-thirds of 24 primary colon cancer tissues that we examined compared with corresponding noncancerous mucosae.", "output": {"entities": {"gene": [{"text": "ENC1", "start": 83, "end": 87}], "disease": [{"text": "colon cancer", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether salusin-β plays a role in myocardial remodeling after myocardial ischemia reperfusion (I/R) injury, rat I/R models were created by the left anterior descending coronary artery occlusion for 30 min, followed by 24 h or 7 days of reperfusion (control, n = 6 each).", "output": {"entities": {"gene": [{"text": "salusin-β", "start": 23, "end": 32}], "disease": [{"text": "myocardial ischemia", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "NCAM-EC mice exhibited impaired working memory in a delayed non-match-to-sample task, which requires PFC function, but showed no differences in anxiety, olfactory abilities, or sociability.", "output": {"entities": {"gene": [{"text": "NCAM", "start": 0, "end": 4}], "disease": [{"text": "anxiety", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Other genetic associations were also observed in men but not women, such as greater' feel effects' and anger, and reduced fatigue, in the dopamine D2 receptor (DRD2 C957T single nucleotide polymorphism) TT versus CT or CC genotypes.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 160, "end": 164}], "disease": [{"text": "fatigue", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "HCC cells were infected with adenovirus carrying Mfn2 (Ad-mfn2) or green fluorescent protein (Ad-GFP), used as a control.", "output": {"entities": {"gene": [{"text": "mfn2", "start": 58, "end": 62}], "disease": [{"text": "adenovirus", "start": 29, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Although both doses of nicorandil failed to decrease the blood pressure, nicorandil significantly decreased the micturition frequency, tissue levels of NGF and increased the bladder blood flow in a dose dependent manner.", "output": {"entities": {"gene": [{"text": "NGF", "start": 152, "end": 155}], "disease": [{"text": "micturition frequency", "start": 112, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The results show that stimulation of 5-HT 1A receptors exerts anticonvulsant actions in stressed and unstressed mice, while stimulation of 5-HT 2A/2C receptors does not interfere with the effect of stress on picrotoxin-induced convulsions.", "output": {"entities": {"gene": [{"text": "5-HT 1A", "start": 37, "end": 44}], "disease": [{"text": "convulsions", "start": 227, "end": 238}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "5-HT 1A", "start": 37, "end": 44}, "tail": {"text": "convulsions", "start": 227, "end": 238}}]}}, "schema": []}
{"input": "In the present work 156 feline mammary lesions consisting of feline mammary carcinomas (FMCs), benign neoplasms, and hyperplastic/dysplastic tissues were evaluated histologically and by immunohistochemistry for expression of basal and luminal cytokeratins (CK), vimentin, alpha-smooth muscle actin, calponin, estrogen receptor (ER) alpha (a), and progesterone receptor (PR).", "output": {"entities": {"gene": [{"text": "progesterone receptor", "start": 347, "end": 368}], "disease": [{"text": "benign neoplasms", "start": 95, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The bcl-2 gene was first shown to be dysregulated in the majority of follicular lymphomas in which a t (14; 18) chromosomal translocation is present, but is also over-expressed in the absence of gene rearrangements in most cases of B-cell chronic lymphocytic leukaemia (B-CLL).", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 4, "end": 14}], "disease": [{"text": "chromosomal translocation", "start": 112, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the genetic abnormalities in this family, we studied the linkage of apoB gene using three genetic markers.", "output": {"entities": {"gene": [{"text": "apoB gene", "start": 81, "end": 90}], "disease": [{"text": "abnormalities", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "This report describes the first putative mutations, p. L70P and p. R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia.", "output": {"entities": {"gene": [{"text": "UROC1", "start": 102, "end": 107}], "disease": [{"text": "urocanic aciduria", "start": 128, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UROC1", "start": 102, "end": 107}, "tail": {"text": "urocanic aciduria", "start": 128, "end": 145}}]}}, "schema": []}
{"input": "These findings suggest that tau proteins are not always assembled in abnormal filaments such as twisted ribbons, paired helical filaments and straight tubules in neurons and glial cells, which have been shown in previous cases with frontotemporal dementia and parkinsonism linked to chromosome 17.", "output": {"entities": {"gene": [{"text": "tau", "start": 28, "end": 31}], "disease": [{"text": "frontotemporal dementia", "start": 232, "end": 255}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tau", "start": 28, "end": 31}, "tail": {"text": "frontotemporal dementia", "start": 232, "end": 255}}]}}, "schema": []}
{"input": "In conclusion, our results implicated the AR-HAP4 gene haplotype in increased risk for male infertility, while no association was found between AR CAG/GGN microsatellites and impaired spermatogenesis.", "output": {"entities": {"gene": [{"text": "GGN", "start": 151, "end": 154}], "disease": [{"text": "male infertility", "start": 87, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Stored, frozen serum samples from 52 patients with testicular cancer (8 patients with HIV and 30 patients with samples near the time of diagnosis) and 84 controls (40 patients with HIV) were diluted 1: 40 and tested by immunofluorescence against SF158 cells transfected with HERV-K10 env [ENV1. 9 (+)] or gag (pACGAG).", "output": {"entities": {"gene": [{"text": "K10", "start": 280, "end": 283}], "disease": [{"text": "testicular cancer", "start": 51, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Abrogation of IL-21 signaling has recently been shown to reduce GVHD while retaining graft-versus-leukemia/lymphoma (GVL) responses.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 14, "end": 19}], "disease": [{"text": "lymphoma", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Leptin expression in third trimester placenta (p) and leptin concentrations in umbilical cord blood (cb) were investigated in normal pregnancies [n = 10 (p), 31 (cb)] and abnormal pregnancies complicated with (i) maternal insulin-dependent diabetes [IDDM: n = 3 (p), 13 (cb)], (ii) gestational diabetes [GD: n = 2 (p), 10 (cb)] and (iii) fetal growth retardation [FGR: n = 5 (p), 5 (cb)].", "output": {"entities": {"gene": [{"text": "FGR", "start": 364, "end": 367}], "disease": [{"text": "diabetes", "start": 240, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls.", "output": {"entities": {"gene": [{"text": "GH1", "start": 66, "end": 69}], "disease": [{"text": "height", "start": 108, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The dual-color model of the ND-GFP nude mouse and RFP sarcoma cells is useful for the visualization and quantitation of bone and soft tissue tumor angiogenesis and evaluation of angiogenic inhibitors for such tumors.", "output": {"entities": {"gene": [{"text": "RFP", "start": 50, "end": 53}], "disease": [{"text": "soft tissue tumor", "start": 129, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss.", "output": {"entities": {"gene": [{"text": "KIAA1199", "start": 31, "end": 39}], "disease": [{"text": "nonsyndromic hearing loss", "start": 134, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KIAA1199", "start": 31, "end": 39}, "tail": {"text": "nonsyndromic hearing loss", "start": 134, "end": 159}}]}}, "schema": []}
{"input": "In contrast to previously reported results, symmetrical dimethylation of the EWS-derived RG-peptide results in a quantitative increase in the dissociation rate between SMN and the symmetrical dimethylated EWS RG-peptide.", "output": {"entities": {"gene": [{"text": "SMN", "start": 168, "end": 171}], "disease": [{"text": "dissociation", "start": 142, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Consistent with a lack of JNK activation, we saw no activation of MKK4 or MKK7 at any time point during ischaemia.", "output": {"entities": {"gene": [{"text": "MKK4", "start": 66, "end": 70}], "disease": [{"text": "ischaemia", "start": 104, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Taken together, CB1 transgenic mice and rats treated with CB1 agonist WIN55212-2 induced proteinuria with upregulation of CB1 resulting in impaired nephrin expression, by inducing excess VEGF reaction in the renal glomeruli.", "output": {"entities": {"gene": [{"text": "CB1", "start": 16, "end": 19}], "disease": [{"text": "proteinuria", "start": 89, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a possible relationship between DAT BP and memory deficits in abstinent METH users, and lend support to the notion that METH produces lasting effects on central DA neurons in humans.", "output": {"entities": {"gene": [{"text": "DAT", "start": 54, "end": 57}], "disease": [{"text": "memory deficits", "start": 65, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DAT", "start": 54, "end": 57}, "tail": {"text": "memory deficits", "start": 65, "end": 80}}]}}, "schema": []}
{"input": "Furthermore, these findings are in agreement with the human genetic studies suggesting a strong association of GRID1 gene with several neuropsychiatric disorders including schizophrenia, bipolar disorder, autism spectrum disorders and major depressive disorder.", "output": {"entities": {"gene": [{"text": "GRID1", "start": 111, "end": 116}], "disease": [{"text": "bipolar disorder", "start": 187, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRID1", "start": 111, "end": 116}, "tail": {"text": "bipolar disorder", "start": 187, "end": 203}}]}}, "schema": []}
{"input": "In humans, mutations in the NDUFS6 gene, encoding a CI subunit, cause severe CI deficiency and neonatal death.", "output": {"entities": {"gene": [{"text": "NDUFS6 gene", "start": 28, "end": 39}], "disease": [{"text": "neonatal death", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "A significant gender-by-genotype interaction also emerged for cold-pain perception (p = 0. 02); low 5-HTT-expressing females were less sensitive.", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 100, "end": 105}], "disease": [{"text": "cold", "start": 62, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The angiogenic factor adrenomedullin (ADM) is a hypoxia regulated gene.", "output": {"entities": {"gene": [{"text": "ADM", "start": 38, "end": 41}], "disease": [{"text": "hypoxia", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Since this growth factor is induced by androgens, we studied the androgen receptor (AR) expression in BRCA-mutated tumors and in matched sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 65, "end": 82}], "disease": [{"text": "sporadic", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Recently, the IRF6 contribution that was reported for Van der Woude syndrome and non-syndromic oral clefts was extended to isolated tooth agenesis.", "output": {"entities": {"gene": [{"text": "IRF6", "start": 14, "end": 18}], "disease": [{"text": "tooth agenesis", "start": 132, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Because HIF-1alpha is the major trigger for hypoxia-induced activation of the VEGF and Flt-1 genes, this could explain how NSAIDs inhibit hypoxia-induced angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 78, "end": 82}], "disease": [{"text": "hypoxia", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.", "output": {"entities": {"gene": [{"text": "ACVR1", "start": 116, "end": 121}], "disease": [{"text": "gliomas", "start": 46, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACVR1", "start": 116, "end": 121}, "tail": {"text": "gliomas", "start": 46, "end": 53}}]}}, "schema": []}
{"input": "Here, we review studies of AID, and the APOBEC family member, APOBEC3G, demonstrating that both enzymes introduce multiple deaminations by processive action on single-stranded DNA and that deaminations occur stochastically at hot-and cold-spot targets.", "output": {"entities": {"gene": [{"text": "APOBEC3G", "start": 62, "end": 70}], "disease": [{"text": "cold", "start": 234, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Using PCR, we amplified regions encompassing (A) 8 and (C) 8 microsatellite tracts within hMSH3 and hMSH6 from 31 RER + sporadic colorectal tumors, 8 hereditary colon cancers, 23 RER + gastric carcinomas, and 32 RER-gastric tumors.", "output": {"entities": {"gene": [{"text": "RER", "start": 114, "end": 117}], "disease": [{"text": "carcinomas", "start": 193, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The TWEAK-Fn14 system has now been identified as a novel inducer of skeletal muscle wasting.", "output": {"entities": {"gene": [{"text": "Fn14", "start": 10, "end": 14}], "disease": [{"text": "muscle wasting", "start": 77, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Production of adrenomedullin (ADM), a vasodilator peptide, increases in response to ischemia and hypoxia in the vascular wall and the kidney.", "output": {"entities": {"gene": [{"text": "ADM", "start": 30, "end": 33}], "disease": [{"text": "hypoxia", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The ADM antagonist ADM-(22-52) reversed the shortened APD and abolished the reduction of I (Ca, L) in shock myocytes.", "output": {"entities": {"gene": [{"text": "ADM", "start": 4, "end": 7}], "disease": [{"text": "shock", "start": 102, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Fifty-five sequence variations in the five genes were identified in infertile and normozoospermic fertile individuals as controls and only one of them (SDHA c. 456 + 32G > A) showed significant genotype association with impairment of sperm production.", "output": {"entities": {"gene": [{"text": "SDHA", "start": 152, "end": 156}], "disease": [{"text": "infertile", "start": 68, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Heterogeneity between the granulomas was observed in those patients staining positive for both IFN-gamma and IL-4 mRNA; these patients exhibited granulomas having IFN-gamma and not IL-4 mRNA as well as granulomas positive for both cytokine mRNAs.", "output": {"entities": {"gene": [{"text": "IFN", "start": 95, "end": 98}], "disease": [{"text": "granulomas", "start": 26, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "TRPC6 protein and mRNA expression were assessed in glioma (n = 33) and normal (n = 17) brain tissues from patients and in human glioma cell lines U251, U87, and T98G.", "output": {"entities": {"gene": [{"text": "U87", "start": 152, "end": 155}], "disease": [{"text": "glioma", "start": 51, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "These findings potentially broaden our understanding of the factors underlying clinical complaints to include the personality dimension of conscientiousness and its modification by COMT.", "output": {"entities": {"gene": [{"text": "COMT", "start": 181, "end": 185}], "disease": [{"text": "personality dimension", "start": 114, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "RUNX1 has been one of the target genes for research into various autoimmune diseases due to its properties as a transcription factor and functional distribution for chromosomal translocation.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 0, "end": 5}], "disease": [{"text": "chromosomal translocation", "start": 165, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "We showed that JFK-mediated ING4 destabilization leads to the hyperactivation of the canonical NF-κB pathway and promotes angiogenesis and metastasis of breast cancer.", "output": {"entities": {"gene": [{"text": "JFK", "start": 15, "end": 18}], "disease": [{"text": "metastasis", "start": 139, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Low incidence of oncogenic EGFR, HRAS, and KRAS mutations in seborrheic keratosis.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 33, "end": 37}], "disease": [{"text": "seborrheic keratosis", "start": 61, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the MLC1 gene, encoding a putative membrane protein, have been recently identified as a cause for MLC.", "output": {"entities": {"gene": [{"text": "MLC1", "start": 17, "end": 21}], "disease": [{"text": "MLC", "start": 17, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLC1", "start": 17, "end": 21}, "tail": {"text": "MLC", "start": 17, "end": 20}}]}}, "schema": []}
{"input": "In this study OPN cDNA was cloned into a retroviral vector and used to infect F98 Fischer rat-derived glioma cells and U87 human-derived glioblastoma multiforme (GBM) cells in vitro.", "output": {"entities": {"gene": [{"text": "U87", "start": 119, "end": 122}], "disease": [{"text": "glioma", "start": 102, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Expression of Ki-67 and HIF-1alpha, activated caspase 3, microvascular density (MVD) and tumor necrotic area assessed.", "output": {"entities": {"gene": [{"text": "MVD", "start": 80, "end": 83}], "disease": [{"text": "necrotic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We examined whether variation within six genes from the VCFS critical region at 22q11 (DGSC, Stk22A1, DGSI, Gscl, Slc25A1 and Znf74) confers susceptibility to schizophrenia.", "output": {"entities": {"gene": [{"text": "Gscl", "start": 108, "end": 112}], "disease": [{"text": "schizophrenia", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "A 58-year-old white woman with mild progressive gait disturbance of 15 years' duration whose examination revealed mild incoordination was analyzed for mutations in the X25 gene.", "output": {"entities": {"gene": [{"text": "X25", "start": 168, "end": 171}], "disease": [{"text": "gait disturbance", "start": 48, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We investigated 82 tumors from patients who fulfilled the Bethesda guidelines for HNPCC as well as 146 sporadic tumors, analyzing microsatellite instability and expression of the 4 MMR proteins hMSH6, hMSH2, hMLH1 and hPMS2.", "output": {"entities": {"gene": [{"text": "MMR", "start": 181, "end": 184}], "disease": [{"text": "microsatellite instability", "start": 130, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.", "output": {"entities": {"gene": [{"text": "KLF5", "start": 104, "end": 108}], "disease": [{"text": "ADC", "start": 75, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KLF5", "start": 104, "end": 108}, "tail": {"text": "ADC", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "Evidence for the participation of cocaine-and amphetamine-regulated transcript peptide (CART) in the fluoxetine-induced anti-hyperalgesia in neuropathic rats.", "output": {"entities": {"gene": [{"text": "cocaine-and amphetamine-regulated transcript", "start": 34, "end": 78}], "disease": [{"text": "hyperalgesia", "start": 125, "end": 137}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "cocaine-and amphetamine-regulated transcript", "start": 34, "end": 78}, "tail": {"text": "hyperalgesia", "start": 125, "end": 137}}]}}, "schema": []}
{"input": "The relationships between VLDL concentrations and composition and changes in hepatic lipase and lipoprotein lipase activities were determined in rats, during the consumption of two low protein diets (2% casein or 5% gluten) (protein malnutrition) for 28 d, followed by the refeeding of a balanced diet for 14 d (15% casein) (refeeding).", "output": {"entities": {"gene": [{"text": "hepatic lipase", "start": 77, "end": 91}], "disease": [{"text": "protein malnutrition", "start": 225, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Understanding the relationships between these host factors and the variability in aflatoxin-adduct levels may help in identifying susceptible populations in developing countries and for targeting specific public health interventions for the prevention of aflatoxicoses in populations with HCC and chronic liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 289, "end": 292}], "disease": [{"text": "liver diseases", "start": 305, "end": 319}]}, "relations": {}}, "schema": []}
{"input": "single nucleotide polymorphisms (SNPs) in the genes for catecholamine-O-methyltransferase (COMT), μ-opioid receptor and GTP cyclohydrolase (GCH1) have been linked to acute and chronic pain states.", "output": {"entities": {"gene": [{"text": "GCH1", "start": 140, "end": 144}], "disease": [{"text": "chronic pain", "start": 176, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Using the conditioned medium obtained from hypoxia-stressed AsPC1 cells treated with MUC1 siRNAs, we demonstrated that MUC1 enhanced the endothelial tube formation, proliferation and migration ability, which induced by hypoxia-conditioned medium (HCM).", "output": {"entities": {"gene": [{"text": "MUC1", "start": 85, "end": 89}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The AlgDx of normal cognition, MCI, and dementia is a valid alternative that reduces time, effort, and biases associated with the ConsDx.", "output": {"entities": {"gene": [{"text": "MCI", "start": 31, "end": 34}], "disease": [{"text": "normal cognition", "start": 13, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "The two papillary thyroid cancer cell lines and the follicular thyroid carcinoma cell line (positive control) had transitions (CGT-> CAT) in exon 8, codon 273, resulting in the replacement of arginine with histidine.", "output": {"entities": {"gene": [{"text": "CAT", "start": 133, "end": 136}], "disease": [{"text": "follicular thyroid carcinoma", "start": 52, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Three stages of cytokine mRNA expression could be distinguished: (i) interleukin (IL)-12, tumor necrosis factor (TNF)-beta (= lymphotoxin-alpha) and cytolysin appeared early and before onset of clinical signs of EAE; (ii) TNF-alpha peaked at height of clinical signs of EAE; (iii) IL-10 appeared increasingly at and after clinical recovery.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 281, "end": 286}], "disease": [{"text": "height", "start": 242, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the effects of the AGT M235T and ATR A1166C polymorphisms on hypertension and age at the end stage renal disease (ESRD).", "output": {"entities": {"gene": [{"text": "ATR", "start": 45, "end": 48}], "disease": [{"text": "end stage renal disease", "start": 101, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We studied the frequency distribution of the PAI-I gene to test the hypothesis that the 4G/4G genotype favors myocardial ischemia and, even in the absence of acute infarction, promotes SCD in patients with CAD.", "output": {"entities": {"gene": [{"text": "PAI", "start": 45, "end": 48}], "disease": [{"text": "infarction", "start": 164, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The rate of IHC abnormality in the younger group was approximately 30% with a nearly equal distribution of MLH1/PMS2 and MSH2/MSH6 abnormalities.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 126, "end": 130}], "disease": [{"text": "abnormalities", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The ligands of peroxisome proliferator-activated receptor-alpha (PPAR-alpha) reduce ischemia-reperfusion injury in nondiabetic animals.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor-alpha", "start": 15, "end": 63}], "disease": [{"text": "ischemia-reperfusion injury", "start": 84, "end": 111}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "peroxisome proliferator-activated receptor-alpha", "start": 15, "end": 63}, "tail": {"text": "ischemia-reperfusion injury", "start": 84, "end": 111}}]}}, "schema": []}
{"input": "To test the hypothesis that CTNNB1 activation in colorectal cancer modifies prognostic associations of body mass index (BMI) and level of postdiagnosis physical activity.", "output": {"entities": {"gene": [{"text": "CTNNB1", "start": 28, "end": 34}], "disease": [{"text": "body mass index", "start": 103, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "TGF-β (1) was secreted endogenously by hypoxic NPDF.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 0, "end": 5}], "disease": [{"text": "hypoxic", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, beta (2)-AR mRNA was strongly down-regulated by androgen ablation therapy of prostate cancer patients.", "output": {"entities": {"gene": [{"text": "beta (2)-AR", "start": 15, "end": 26}], "disease": [{"text": "prostate cancer", "start": 92, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta (2)-AR", "start": 15, "end": 26}, "tail": {"text": "prostate cancer", "start": 92, "end": 107}}]}}, "schema": []}
{"input": "Several loci related to alcohol withdrawal on mouse chromosome 11 which corresponds to the region containing four GABA (A) subunit (beta2, alpha6, alpha1 and gamma2) genes on human chromosome 5q33-34, were also identified.", "output": {"entities": {"gene": [{"text": "beta2", "start": 132, "end": 137}], "disease": [{"text": "alcohol withdrawal", "start": 24, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The findings presented herein imply that chronically hypoxic trophoblasts may release sufficient sFlt-1 to cause endothelial dysfunction by depriving cells of VEGF activity.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 159, "end": 163}], "disease": [{"text": "hypoxic", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In addition, BA significantly reduced cellular and secreted levels of vascular endothelial growth factor (VEGF), a critical angiogenic factor and a target gene of STAT3 induced under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 106, "end": 110}], "disease": [{"text": "hypoxia", "start": 183, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of NF-kappaB using a nondegradable mutant of IkappaBalpha suppressed inducible anchorage-independent transformation of P + JB6 cells, suggesting that NF-kappaB activation is required for tumor promotion.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 14, "end": 23}], "disease": [{"text": "tumor promotion", "start": 198, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that lymphoma cells protected from apoptosis by expression of a bcl-2 transgene or by virtue of the t (14; 18) (q32; q21) translocation continue to register enhanced AV binding in response to BCR crosslinking.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 78, "end": 83}], "disease": [{"text": "translocation", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene.", "output": {"entities": {"gene": [{"text": "CA8", "start": 245, "end": 248}], "disease": [{"text": "dysequilibrium syndrome", "start": 170, "end": 193}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CA8", "start": 245, "end": 248}, "tail": {"text": "dysequilibrium syndrome", "start": 170, "end": 193}}]}}, "schema": []}
{"input": "From these patients we chose 21 who had never smoked or drunk alcohol and performed immunohistochemical staining for p53 protein in paraffin-embedded archival blocks.", "output": {"entities": {"gene": [{"text": "p53", "start": 117, "end": 120}], "disease": [{"text": "drunk", "start": 56, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p53", "start": 117, "end": 120}, "tail": {"text": "drunk", "start": 56, "end": 61}}]}}, "schema": []}
{"input": "Suppressed CEBPA DNA binding was defined by 21 good-risk AML patients with inv (16) or t (8; 21) (both abnormalities targeting CEBPA) and 8 NK-AML patients with dominant-negative CEBPA mutations.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 11, "end": 16}], "disease": [{"text": "abnormalities", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In the rabbit ear model of the HTS, JNK and ERK inhibitors significantly improved the architecture of the rabbit ear scar and reduced scar formation on the rabbit ear.", "output": {"entities": {"gene": [{"text": "JNK", "start": 36, "end": 39}], "disease": [{"text": "scar", "start": 117, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Here we show a reduction in the expression of PrRP mRNA during lactation and fasting and an acute effect of PrRP on food intake and body weight, supporting the hypothesis of an alternative role for the peptide.", "output": {"entities": {"gene": [{"text": "PrRP", "start": 46, "end": 50}], "disease": [{"text": "body weight", "start": 132, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four hours of Adv-bcl-2 transfection to proximal and distal tubular cells in vitro upregulated Bcl-2/Bax ratio and inhibited hypoxia/reoxygenation induced cytochrome C translocation, O (2) (-) production and tubular apoptosis.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 102, "end": 107}], "disease": [{"text": "translocation", "start": 175, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "A gene in close proximity, apolipoprotein B48 receptor gene (APOB48R), is tagged by the same SNP (s). We analyzed 454 overweight and obese children and adolescents (10. 8 ± 2. 6 years, BMI-SDS 2. 4 ± 0. 5; 55% girls) who completed a 1-year lifestyle intervention (' Obeldicks' program).", "output": {"entities": {"gene": [{"text": "APOB48R", "start": 61, "end": 68}], "disease": [{"text": "overweight", "start": 118, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "To examine the possibility that another susceptibility gene of primary significance exists within the FcgammaR region, we screened for polymorphisms of the human FCGR2B gene, and examined whether these polymorphisms are associated with SLE.", "output": {"entities": {"gene": [{"text": "FCGR2B", "start": 162, "end": 168}], "disease": [{"text": "SLE", "start": 236, "end": 239}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FCGR2B", "start": 162, "end": 168}, "tail": {"text": "SLE", "start": 236, "end": 239}}]}}, "schema": []}
{"input": "In addition, the genetic profile of the core subset was significantly different from BL with an 8q24 breakpoint not affecting one of the three immunoglobulin loci, BL with a translocation involving 18q21/BCL2, 3q27/BCL6 or 11q13/BCL1, additionally to a breakpoint at 8q24/MYC, and from other morphological types of lymphomas with an 8q24/MYC breakpoint.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 204, "end": 208}], "disease": [{"text": "translocation", "start": 174, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Common variants near GPR126/ADGRG6 (encoding the adhesion G protein-coupled receptor 126/adhesion G protein-coupled receptor G6, hereafter referred to as GPR126) were recently shown to be associated with AIS in humans.", "output": {"entities": {"gene": [{"text": "GPR126", "start": 21, "end": 27}], "disease": [{"text": "adhesion", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Omenn syndrome was recently found to be caused by missense mutations in RAG1 or RAG2 gene that result in partial V (D) J recombination activity.", "output": {"entities": {"gene": [{"text": "RAG1", "start": 72, "end": 76}], "disease": [{"text": "Omenn syndrome", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAG1", "start": 72, "end": 76}, "tail": {"text": "Omenn syndrome", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17.", "output": {"entities": {"gene": [{"text": "K17", "start": 190, "end": 193}], "disease": [{"text": "genodermatosis", "start": 53, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.", "output": {"entities": {"gene": [{"text": "COA3", "start": 13, "end": 17}], "disease": [{"text": "complex IV deficiency", "start": 33, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COA3", "start": 13, "end": 17}, "tail": {"text": "complex IV deficiency", "start": 33, "end": 54}}]}}, "schema": []}
{"input": "Most notably, EGFRvIII-expressing U87 glioma cells show elevated activation of a key DSB repair enzyme, DNA-dependent protein kinase catalytic subunit (DNA-PKcs).", "output": {"entities": {"gene": [{"text": "U87", "start": 34, "end": 37}], "disease": [{"text": "glioma", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Here we show that ligands that dissociate CRF from CRF-BP increase brain levels of' free CRF' in AD to control levels and show cognition-enhancing properties in models of learning and memory in animals without the characteristic stress effects of CRF receptor agonists.", "output": {"entities": {"gene": [{"text": "CRF", "start": 42, "end": 45}], "disease": [{"text": "AD", "start": 97, "end": 99}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CRF", "start": 42, "end": 45}, "tail": {"text": "AD", "start": 97, "end": 99}}]}}, "schema": []}
{"input": "To refine the region of 20q amplification and to identify potential candidate genes involved in melanoma or even in melanoma progression from these regions, we combined fluorescence in-situ hybridization with MYBL2, ZNF217, CYP24 and STK6 specific probes (chromosomal region 20q13. 1-q13. 2) with high-throughput tissue microarray consisting of 280 primary melanomas and melanoma metastases.", "output": {"entities": {"gene": [{"text": "MYBL2", "start": 209, "end": 214}], "disease": [{"text": "melanoma", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Sequencing of amplified IVD cDNA from a type V mutant has failed to identify any abnormalities.", "output": {"entities": {"gene": [{"text": "IVD", "start": 24, "end": 27}], "disease": [{"text": "abnormalities", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Mutations in keratin 9 have been found in families with an epidermolytic form of palmar-plantar keratoderma (PPK).", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 13, "end": 22}], "disease": [{"text": "keratoderma", "start": 96, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "By doing new in-depth analysis of their cytogenetic abnormality, we attempted a better genotype-phenotype correlation of their PRKACA amplification.", "output": {"entities": {"gene": [{"text": "PRKACA", "start": 127, "end": 133}], "disease": [{"text": "cytogenetic abnormality", "start": 40, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The prophet of Pit-1 gene (PROP1), a novel pituitary-specific homeodomain factor, has been proved to be one of the causative genes for combined pituitary hormone deficiency (CPHD).", "output": {"entities": {"gene": [{"text": "Pit-1", "start": 15, "end": 20}], "disease": [{"text": "pituitary hormone deficiency", "start": 144, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "The modes of inheritance found from pedigree studies were the following: 20% (15/75) were classified as autosomal dominant retinitis pigmentosa (ADRP), 17. 33% (13/75) were autosomal recessive (ARRP), 2. 66% (2/75) were unclassified (NC), and 60% (45/75) were sporadic cases (SCRP).", "output": {"entities": {"gene": [{"text": "ADRP", "start": 145, "end": 149}], "disease": [{"text": "sporadic", "start": 260, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Based on these results, an influence of STMN1 should be considered in studies aiming at the etiopathogenesis of a broad range of neuropsychiatric disorders with dysfunctional networking, including neurodegenerative disorders as well as schizophrenia, autism spectrum disorders, anxiety disorders, depression, and ADHD.", "output": {"entities": {"gene": [{"text": "STMN1", "start": 40, "end": 45}], "disease": [{"text": "depression", "start": 297, "end": 307}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STMN1", "start": 40, "end": 45}, "tail": {"text": "depression", "start": 297, "end": 307}}]}}, "schema": []}
{"input": "In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (n = 3), ABCC8 (n = 1) and homozygous INS (n = 1).", "output": {"entities": {"gene": [{"text": "ABCC8", "start": 114, "end": 119}], "disease": [{"text": "abnormalities", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We also compared the mRNA levels of PCNT2 in the peripheral blood lymphocytes of bipolar disorder (n = 21), schizophrenia (n = 21), depression (n = 33), and control subjects (n = 57).", "output": {"entities": {"gene": [{"text": "PCNT2", "start": 36, "end": 41}], "disease": [{"text": "bipolar disorder", "start": 81, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PCNT2", "start": 36, "end": 41}, "tail": {"text": "bipolar disorder", "start": 81, "end": 97}}]}}, "schema": []}
{"input": "We demonstrate that Hartnup disorder is allelically heterogeneous with two mutated SLC6A19 alleles, whether identical or not, necessary for manifestation of the characteristic aminoaciduria in affected individuals.", "output": {"entities": {"gene": [{"text": "SLC6A19", "start": 83, "end": 90}], "disease": [{"text": "Hartnup disorder", "start": 20, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC6A19", "start": 83, "end": 90}, "tail": {"text": "Hartnup disorder", "start": 20, "end": 36}}]}}, "schema": []}
{"input": "We observed hypermethylation of the RPRM promoter in 8/11 leukemia cell lines and in 44. 8% (47/105) of pediatric AML samples compared with 6. 7% (2/30) of control samples.", "output": {"entities": {"gene": [{"text": "RPRM", "start": 36, "end": 40}], "disease": [{"text": "leukemia", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We show that a SNP in human FCGR2B that abrogates receptor function is strongly associated with susceptibility to SLE in both Caucasians and Southeast Asians.", "output": {"entities": {"gene": [{"text": "FCGR2B", "start": 28, "end": 34}], "disease": [{"text": "SLE", "start": 114, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FCGR2B", "start": 28, "end": 34}, "tail": {"text": "SLE", "start": 114, "end": 117}}]}}, "schema": []}
{"input": "HLA antigens were determined in 1) 20 white and 8 African American anti-HMGCR patients, 2) 487 white and 167 African American controls, and 3) 51 white subjects with mild self-limited statin intolerance.", "output": {"entities": {"gene": [{"text": "HMGCR", "start": 72, "end": 77}], "disease": [{"text": "mild", "start": 166, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "H-CGbeta-c selectively killed the Lhcgr expressing tumor cells, whereas GnRH-a blocked tumor progression through gonadotropin suppression, emphasizing the gonadotropin dependency of these adrenocortical tumors.", "output": {"entities": {"gene": [{"text": "Lhcgr", "start": 34, "end": 39}], "disease": [{"text": "tumor progression", "start": 87, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "However, significant association between TNF-alpha-308G > A polymorphism and atopy status was noted (P < 0. 05).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 41, "end": 50}], "disease": [{"text": "atopy", "start": 77, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In total RNA isolated from lymphocytes of the translocation patient, we identified four different fusion transcripts consisting of PDGFB exons and parts of chromosome 1q24. 3.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 131, "end": 136}], "disease": [{"text": "translocation", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The analysis of covariance demonstrated no difference between glycosylated hemoglobin, body mass index, duration of diabetes, C-peptide, and GAD-Ab titer between the group carrying GC/CC and the group without allele C. In conclusion, the-1123G > C promoter polymorphism of PTPN22 gene, but not the + 1858C > T variant, is associated with LADA in adult Chinese Hans.", "output": {"entities": {"gene": [{"text": "GAD", "start": 141, "end": 144}], "disease": [{"text": "body mass index", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We conclude that myeloid lineage produced ephrin B1 is a negative regulator of bone resorption in vivo, and that activation of ephrin B1 reverse signaling inhibits osteoclast differentiation in vitro in part via a mechanism that involves inhibition of NFATc1 expression and modulation of phosphorylation status of ezrin/radixin/moesin.", "output": {"entities": {"gene": [{"text": "NFATc1", "start": 252, "end": 258}], "disease": [{"text": "bone resorption", "start": 79, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that in diabetes the upregulation of cutaneous NGF may' over-troph' the surviving axons, increasing CGRP labelling, which may be important in the aetiology of painful diabetic neuropathy.", "output": {"entities": {"gene": [{"text": "NGF", "start": 66, "end": 69}], "disease": [{"text": "painful diabetic neuropathy", "start": 178, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that ENH contributes to differentiation of the nervous system through cytoplasmic sequestration of Id2.", "output": {"entities": {"gene": [{"text": "Id2", "start": 119, "end": 122}], "disease": [{"text": "nervous system", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "IL-12 p70 and IL-18 were immunohistochemically expressed in the epithelioid cells and giant cells of sarcoid granulomas.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 14, "end": 19}], "disease": [{"text": "granulomas", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Normal polycystin-1 (PC-1)/focal adhesion complex function is required for control of CT diameter during renal development, and abnormalities in these complexes have been demonstrated in human PC-1 mutant cystic cells.", "output": {"entities": {"gene": [{"text": "PC-1", "start": 21, "end": 25}], "disease": [{"text": "abnormalities", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Previously, we reported an association between seven single nucleotide polymorphisms (SNPs) in four innate immunity genes (OAS2, OAS3, CD209, and TLR3) and human predisposition to tick-borne encephalitis, caused by a virus from the same Flaviviridae family, in a Russian population.", "output": {"entities": {"gene": [{"text": "OAS3", "start": 129, "end": 133}], "disease": [{"text": "encephalitis", "start": 191, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "While accounting for family clusters and blood pressure at baseline and with adjustments applied for sex, age, body mass index, smoking and drinking, total cholesterol, and antihypertensive drug treatment, all associations of systolic and diastolic blood pressure changes with nine single nucleotide polymorphisms (SNPs) in PEAR1 were all non-significant (p ≥ 0. 059).", "output": {"entities": {"gene": [{"text": "PEAR1", "start": 324, "end": 329}], "disease": [{"text": "smoking", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The PAX5-FOXP1 translocation is a nonrandom aberration, which is recurrent in both childhood and in adult B-ALL, and may contribute to leukemogenesis by blocking differentiation of hematopoietic cells into mature B-cells.", "output": {"entities": {"gene": [{"text": "PAX5", "start": 4, "end": 8}], "disease": [{"text": "B-ALL", "start": 106, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX5", "start": 4, "end": 8}, "tail": {"text": "B-ALL", "start": 106, "end": 111}}]}}, "schema": []}
{"input": "Moreover, curcumin suppressed the transcriptional activity of HIF-1 under hypoxia, leading to a decrease in the expression of vascular endothelial growth factor (VEGF), a major HIF-1 target angiogenic factor.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 162, "end": 166}], "disease": [{"text": "hypoxia", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In control cells, Pak-1 served as a functional inhibitor for MEKK-1, which inhibits the complex formation of MEKK-1 and p-JNK and thus inhibits the translocation of this complex into nucleus.", "output": {"entities": {"gene": [{"text": "MEKK", "start": 61, "end": 65}], "disease": [{"text": "translocation", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "At any point during the disease, parkinsonism was the most common movement syndrome reported in 79. 8% followed by progressive supranuclear palsy (PSPS) and corticobasal (CBS) syndromes in 12. 2% and 10. 7%, respectively.", "output": {"entities": {"gene": [{"text": "CBS", "start": 171, "end": 174}], "disease": [{"text": "parkinsonism", "start": 33, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of endothelial nitric oxide synthase attenuates cardiac hypertrophy induced by chronic isoproterenol infusion.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 18, "end": 51}], "disease": [{"text": "cardiac hypertrophy", "start": 63, "end": 82}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "endothelial nitric oxide synthase", "start": 18, "end": 51}, "tail": {"text": "cardiac hypertrophy", "start": 63, "end": 82}}]}}, "schema": []}
{"input": "Expression of the key ER stress-associated genes, including glucose-regulated protein 78 (Grp78), protein disulfide isomerase (PDI), and heat shock proteins (HSP25, HSP40, HSP70), were also suppressed by CeO2 nanoparticles.", "output": {"entities": {"gene": [{"text": "HSP25", "start": 158, "end": 163}], "disease": [{"text": "shock", "start": 142, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "There were significant increases in TS (p = 0. 02) and DPD (p = 0. 01) levels in residual tumor cells after CRT.", "output": {"entities": {"gene": [{"text": "DPD", "start": 55, "end": 58}], "disease": [{"text": "residual tumor", "start": 81, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The RUNX1-ETO fusion protein that is expressed by this translocation is poorly leukemogenic and requires additional mutations for transformation.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 4, "end": 9}], "disease": [{"text": "translocation", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical (IHC) analysis and microsatellite instability (MSI) studies, genetic testing, a literature and online MMR mutation database review, in silico phenotype prediction tools, and an in vitro MMR activity assay were used to study the clinical significance of this variant.", "output": {"entities": {"gene": [{"text": "MMR", "start": 122, "end": 125}], "disease": [{"text": "microsatellite instability", "start": 39, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "FZD4 gene mutations were found in some cases of autosomal dominant and sporadic FEVR.", "output": {"entities": {"gene": [{"text": "FZD4 gene", "start": 0, "end": 9}], "disease": [{"text": "sporadic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The deletion spanned both SUCLA2 and RB1 gene regions, leading to manifestation of both mitochondrial disease and retinoblastoma.", "output": {"entities": {"gene": [{"text": "SUCLA2", "start": 26, "end": 32}], "disease": [{"text": "mitochondrial disease", "start": 88, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "It is of great interest that prostaglandin-endoperoxide synthase 2, tyrosine hydroxylase, Cart, Homer1 and glutamate decarboxylase have already been implicated in affective disorders by different approaches in previous reports.", "output": {"entities": {"gene": [{"text": "prostaglandin-endoperoxide synthase 2", "start": 29, "end": 66}], "disease": [{"text": "affective disorders", "start": 163, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prostaglandin-endoperoxide synthase 2", "start": 29, "end": 66}, "tail": {"text": "affective disorders", "start": 163, "end": 182}}]}}, "schema": []}
{"input": "The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B.", "output": {"entities": {"gene": [{"text": "LMX1B", "start": 101, "end": 106}], "disease": [{"text": "NPS", "start": 57, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMX1B", "start": 101, "end": 106}, "tail": {"text": "NPS", "start": 57, "end": 60}}]}}, "schema": []}
{"input": "Recently identified is a new syndrome consisting of multiple and recurrent PGLs or PHEOs, somatostatinoma, and congenital polycythemia, due to somatic hypoxia-inducible factor 2α gene (HIF2A) mutations.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 75, "end": 79}], "disease": [{"text": "polycythemia", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "MiR-19a is correlated with prognosis and apoptosis of laryngeal squamous cell carcinoma by regulating TIMP-2 expression.", "output": {"entities": {"gene": [{"text": "19a", "start": 4, "end": 7}], "disease": [{"text": "laryngeal squamous cell carcinoma", "start": 54, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "It is however, unlikely that islet amyloid polypeptide is involved in the development of insulin resistance as insulin-resistant relatives with normal glucose-tolerance showed normal islet amyloid polypeptide concentrations.", "output": {"entities": {"gene": [{"text": "islet amyloid polypeptide", "start": 29, "end": 54}], "disease": [{"text": "insulin resistance", "start": 89, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of the mouse MCP-1 gene product (classically termed JE) in astrocytes, the major physiological CNS cellular source of MCP-1, failed to induce neurological impairment.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 28, "end": 33}], "disease": [{"text": "neurological impairment", "start": 157, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Hyperglycemia (diabetes or galactosemia) increased H4K20me3, acetyl H3K9, and NF-κB p65 at the promoter and enhancer of retinal sod2, upregulated protein and gene expression of SUV420h2, and increased the interactions of acetyl H3K9 and NF-κB p65 to H4K20me3.", "output": {"entities": {"gene": [{"text": "SUV420h2", "start": 177, "end": 185}], "disease": [{"text": "galactosemia", "start": 27, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Histological study revealed that loss of CA1 and CA3 pyramidal neurons after ischemia was marked in GFAP (-/-).", "output": {"entities": {"gene": [{"text": "CA3", "start": 49, "end": 52}], "disease": [{"text": "ischemia", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "FISH was successful in 22 cases, and rearrangements involving JAZF1, SUZ12, EPC1, and PHF1 genes were detected in 10 of the 22 (45%) uterine tumors, including 2 of the 3 ESNs and 8 of 12 ESSs.", "output": {"entities": {"gene": [{"text": "ESSs", "start": 187, "end": 191}], "disease": [{"text": "tumors", "start": 141, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Although this patient had some risk factors for coronary artery disease, coronary atherosclerosis in this patient might have occurred as a result of lipoprotein abnormalities caused by at least one mutation in the apolipoprotein C-II gene.", "output": {"entities": {"gene": [{"text": "apolipoprotein C-II", "start": 214, "end": 233}], "disease": [{"text": "abnormalities", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "In hypoxic HK-2 cells, IL-20 and IL-22R1 transcripts increased, and IL-20 upregulated IL-1 beta transcripts.", "output": {"entities": {"gene": [{"text": "IL-20", "start": 23, "end": 28}], "disease": [{"text": "hypoxic", "start": 3, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "The present results suggest that a combination of polymorphisms of MAO-A, COMT, and DRD3 might affect personality traits in Japanese women.", "output": {"entities": {"gene": [{"text": "COMT", "start": 74, "end": 78}], "disease": [{"text": "personality traits", "start": 102, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We describe a patient with pulmonary fibrosis and emphysema with pulmonary hypertension, associated with compound heterozygous mutations of the ABCA3 gene.", "output": {"entities": {"gene": [{"text": "ABCA3", "start": 144, "end": 149}], "disease": [{"text": "pulmonary hypertension", "start": 65, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCA3", "start": 144, "end": 149}, "tail": {"text": "pulmonary hypertension", "start": 65, "end": 87}}]}}, "schema": []}
{"input": "Furthermore, c-Src kinase activity was found to be increased in the hypoxic condition, and in the presence of antisense of Src, there was down-regulation of the total mRNA level and also the promoter activity of VPF/VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 216, "end": 220}], "disease": [{"text": "hypoxic", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c. 448G & gt; C [p. Ala150Pro] and c. 559G & gt; T [p. Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIE & #946;).", "output": {"entities": {"gene": [{"text": "GTF2E2", "start": 134, "end": 140}], "disease": [{"text": "TTD", "start": 76, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GTF2E2", "start": 134, "end": 140}, "tail": {"text": "TTD", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "A new B-cell line showing a complex translocation (8; 14; 18) and BCL2 rearrangement.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 66, "end": 70}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Incubation of cells with a calpain inhibitor, MDL, prevented tensin cleavage and induced morphological change in these cells, suggesting that cleavage of tensin and other focal-adhesion constituents by calpain disrupts maintenance of normal cell shape.", "output": {"entities": {"gene": [{"text": "tensin", "start": 61, "end": 67}], "disease": [{"text": "adhesion", "start": 177, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "By Southern and polymerase chain reaction BCL2 translocation within major breakpoint region was found only in 3 of 37 FL, 1 of 55 DL and 2 of 39 HD.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 42, "end": 46}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "However, DAG increased in lipid droplets or lipid-associated endoplasmic reticulum rather than the membrane of CGI-58 ASO-treated mice, and thus prevented PKCε translocation to the plasma membrane and induction of insulin resistance.", "output": {"entities": {"gene": [{"text": "CGI-58", "start": 111, "end": 117}], "disease": [{"text": "translocation", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "CRMP1 is a novel candidate protein for schizophrenia traits at the intersection of the reelin and DISC1 pathways that directly and functionally interacts with DISC1.", "output": {"entities": {"gene": [{"text": "CRMP1", "start": 0, "end": 5}], "disease": [{"text": "schizophrenia", "start": 39, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRMP1", "start": 0, "end": 5}, "tail": {"text": "schizophrenia", "start": 39, "end": 52}}]}}, "schema": []}
{"input": "Vogt-Koyanagi-Harada (VKH) disease is a putative autoimmune ocular inflammatory disease and is known to be associated with HLA-DR4 and-DR1 in Mestizos.", "output": {"entities": {"gene": [{"text": "DR1", "start": 135, "end": 138}], "disease": [{"text": "inflammatory disease", "start": 67, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we sought to quantify PPARgamma mRNA in coronary arteries, the aorta and left ventricular specimens from patients with ischaemic (CHD) and dilated cardiomyopathy (CMP).", "output": {"entities": {"gene": [{"text": "CMP", "start": 174, "end": 177}], "disease": [{"text": "dilated cardiomyopathy", "start": 150, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Relative to wild-type MEF cells, MKK4-null MEF cells were highly susceptible to apoptosis by LY294002, paclitaxel, or serum starvation.", "output": {"entities": {"gene": [{"text": "MKK4", "start": 33, "end": 37}], "disease": [{"text": "starvation", "start": 124, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "These data show that rhodanese, but not CSE, is associated with DSS-induced colitis in mice, leading to a hypothesis that impaired detoxification of H (2) S due to down-regulation or suppression of colonic rhodanese is involved in IBD.", "output": {"entities": {"gene": [{"text": "CSE", "start": 40, "end": 43}], "disease": [{"text": "colitis", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Chronic NO inhibition as well as hypoxia induce fetal growth restriction and significantly change maternal circulating levels of sFlt-1 and PlGF, but not of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 157, "end": 161}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Methods We screened for mutations in the coding and promoter regions of genes in the TNF-LTA region, including BAT1, NFKBIL1, LTA, TNF, LTB, AIF, and BAT2, and conducted a transmission disequilibrium test of 41 polymorphisms in 137 families identified through pro-bands with childhood-onset atopic asthma.", "output": {"entities": {"gene": [{"text": "NFKBIL1", "start": 117, "end": 124}], "disease": [{"text": "atopic asthma", "start": 291, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "The second series of experiments was designed to study the effects of FGF2 neutralizing antibody (40 micrograms for 5 days after PAN injection, in MoAb group) on severely damaged podocytes caused by repeated (two courses) injections in the PAN nephropathy rats.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 70, "end": 74}], "disease": [{"text": "nephropathy", "start": 244, "end": 255}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF2", "start": 70, "end": 74}, "tail": {"text": "nephropathy", "start": 244, "end": 255}}]}}, "schema": []}
{"input": "More sudden death (7/41 versus 0/11) and left ventricular dysfunction (NYHA Class III approximately IV, 17/32 versus 1/10) were identified in patients with mutations in the global region of MYH7 than in patients with other mutations.", "output": {"entities": {"gene": [{"text": "MYH7", "start": 190, "end": 194}], "disease": [{"text": "ventricular dysfunction", "start": 46, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In this sample of children diagnosed with ADHD, we find no association between the COMT ValMet gene variant, birth weight, and conduct disorder.", "output": {"entities": {"gene": [{"text": "COMT", "start": 83, "end": 87}], "disease": [{"text": "birth weight", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The low-activity COMT and CYP1A2 variant alleles were weakly related to lower percent mammographic density after adjustment for age, ethnicity, body mass index and reproductive variables (p for gene-dosage = 0. 08 and 0. 05, respectively).", "output": {"entities": {"gene": [{"text": "CYP1A2", "start": 26, "end": 32}], "disease": [{"text": "mammographic density", "start": 86, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Emerging evidence shows that the upregulation of PPME1 is associated with poor prognosis in glioblastoma patients.", "output": {"entities": {"gene": [{"text": "PPME1", "start": 49, "end": 54}], "disease": [{"text": "glioblastoma", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The orphan cotransport protein expressed by the SLC5A8 gene has been shown to play a role in controlling the growth of colon cancers, and the silencing of this gene is a common and early event in human colon neoplasia.", "output": {"entities": {"gene": [{"text": "SLC5A8", "start": 48, "end": 54}], "disease": [{"text": "colon neoplasia", "start": 202, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC5A8", "start": 48, "end": 54}, "tail": {"text": "colon neoplasia", "start": 202, "end": 217}}]}}, "schema": []}
{"input": "Furthermore, WISP1v-induced cholangiocarcinoma invasion was significantly suppressed by the p38 MAPK inhibitor SB203580 but not by the p42/p44 MAPK kinase (MEK) inhibitor PD98059.", "output": {"entities": {"gene": [{"text": "p42", "start": 135, "end": 138}], "disease": [{"text": "cholangiocarcinoma", "start": 28, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "This study used global protein expression profiling to search for biomarkers to predict early recurrent hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 130, "end": 133}], "disease": [{"text": "recurrent hepatocellular carcinoma", "start": 94, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "These data are consistent with our previous findings linking NGF and APP signaling and suggest a causal relationship between altered synaptic connectivity, cholinergic tone depression and TrkA signaling deficit, and cognitive and neuromuscular decline in APP (YG/YG) mice.", "output": {"entities": {"gene": [{"text": "NGF", "start": 61, "end": 64}], "disease": [{"text": "depression", "start": 173, "end": 183}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NGF", "start": 61, "end": 64}, "tail": {"text": "depression", "start": 173, "end": 183}}]}}, "schema": []}
{"input": "In our cohort of 94 patients with congenital myopathy, two related female patients and two sporadic, male patients were found to carry mutations in the tropomyosin 2 (TPM2) and tropomyosin 3 (TPM3) genes, respectively.", "output": {"entities": {"gene": [{"text": "TPM3", "start": 192, "end": 196}], "disease": [{"text": "sporadic", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "TFE3 knockdown reduced GPNMB expression in renal cancer cells harboring either TFE3 translocations or FLCN inactivation.", "output": {"entities": {"gene": [{"text": "GPNMB", "start": 23, "end": 28}], "disease": [{"text": "renal cancer", "start": 43, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Among the discordant transcriptional profiles we identified two key mediators of vascular calcification and bone metabolism, ENPP1 and OPG, which offer a molecular explanation for the major phenotypic differences in vascular and bone disease in sporadic and hereditary HGPS.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 125, "end": 130}], "disease": [{"text": "sporadic", "start": 245, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Despite the unaltered infarct size in nude rats, IPostC increased levels of phosphorylated Akt (p-Akt) and Akt isoforms (Akt1, Akt2, Akt3), and p-mTOR, p-S6K and p-4EBP1 in the mTOR pathway, as well as growth associated Protein 43 (GAP43), both in the peri-infarct area and core, 24 h after stroke.", "output": {"entities": {"gene": [{"text": "Akt2", "start": 127, "end": 131}], "disease": [{"text": "stroke", "start": 291, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Our results identify SOS1 mutants as a major cause of Noonan syndrome, representing the first example of activating GEF mutations associated with human disease and providing new insights into RAS-GEF regulation.", "output": {"entities": {"gene": [{"text": "SOS1", "start": 21, "end": 25}], "disease": [{"text": "Noonan syndrome", "start": 54, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOS1", "start": 21, "end": 25}, "tail": {"text": "Noonan syndrome", "start": 54, "end": 69}}]}}, "schema": []}
{"input": "Using HCC cell cultures, we found that the expression of CHMP4B was progressively upregulated after the release from serum starvation.", "output": {"entities": {"gene": [{"text": "HCC", "start": 6, "end": 9}], "disease": [{"text": "starvation", "start": 123, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We have studied three B-NHL cell lines (DoHH2, VAL and ROS 50) and show that concurrent activation of BCL2 and MYC may follow translocation of both oncogenes to the same IGH allele.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 102, "end": 106}], "disease": [{"text": "translocation", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Potential pathogenetic implications of cyclooxygenase-2 overexpression in B chronic lymphoid leukemia cells.", "output": {"entities": {"gene": [{"text": "cyclooxygenase-2", "start": 39, "end": 55}], "disease": [{"text": "chronic lymphoid leukemia", "start": 76, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cyclooxygenase-2", "start": 39, "end": 55}, "tail": {"text": "chronic lymphoid leukemia", "start": 76, "end": 101}}]}}, "schema": []}
{"input": "Common polymorphisms in SOCS3 are not associated with body weight, insulin sensitivity or lipid profile in normal female twins.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 24, "end": 29}], "disease": [{"text": "insulin sensitivity", "start": 67, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In this paper we studied the expression and hypoxic regulation of PFKFB-4 and PFKFB-3 mRNA as well as its correlation with HIF-1alpha, HIF-2alpha, VEGF and Glut1 mRNA expression in the pancreatic cancer cell line Panc1 and two gastric cancer cell lines MKN45 and NUGC3.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 147, "end": 151}], "disease": [{"text": "hypoxic", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Regulatory T cells (Treg) can suppress inflammation by hydrolysing this molecule via ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), also termed as CD39.", "output": {"entities": {"gene": [{"text": "CD39", "start": 159, "end": 163}], "disease": [{"text": "inflammation", "start": 39, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Our study uncovers a new regulatory pathway involving miR-19a that is critical to the severe phenotype of asthma and indicates that downregulating miR-19a expression could be explored as a potential new therapy to modulate epithelium repair in asthma.", "output": {"entities": {"gene": [{"text": "19a", "start": 58, "end": 61}], "disease": [{"text": "asthma", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "After culturing cancer cells under stressing conditions, such as serum starvation and/or hypoxia, ADM was found to be a survival factor in HEY but not in other cell lines.", "output": {"entities": {"gene": [{"text": "ADM", "start": 98, "end": 101}], "disease": [{"text": "hypoxia", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "As expected, LB-1 also decreased Stat3 protein accumulation and blocked the physical interactions between HIF-1α/p300/phosphor-Stat3 (p-Stat3) at the pharmacological concentration to reduce VEGF expression, thereby hypoxia-induced angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 190, "end": 194}], "disease": [{"text": "hypoxia", "start": 215, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Suppression of C8161 melanoma metastatic ability by chromosome 6 induces differentiation-associated tyrosinase and decreases proliferation on adhesion-restrictive substrates mediated by overexpression of p21WAF1 and down-regulation of bcl-2 and cyclin D3.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 245, "end": 254}], "disease": [{"text": "adhesion", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We show that neither loss of heterozygosity nor promoter methylation of the wild-type BRCA1 allele is the predominant mechanistic origin of the observed genomic instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 86, "end": 91}], "disease": [{"text": "genomic instability", "start": 153, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We describe the association of genetic variation in the ACE gene in 1, 365 DCCT/EDIC subjects with incident persistent microalbuminuria (n = 312) and severe nephropathy (n = 115).", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 56, "end": 64}], "disease": [{"text": "microalbuminuria", "start": 119, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The messenger RNA (mRNA) level of EfnB2 increased significantly in the hyperoxic phase (P7-P12), while EphB4, VEGF, VEGFR1 and VEGFR2 showed a significant-up to fivefold-increased expression at P14, the start of morphologically visible vasoproliferation caused by relative hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 110, "end": 114}], "disease": [{"text": "hypoxia", "start": 273, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "The major effect of the 14; 18 translocation is a transcriptional deregulation of the bcl-2 gene resulting in levels of the protein and mRNA that appear to be inappropriate for B cells at a comparable stage of differentiation.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 86, "end": 96}], "disease": [{"text": "translocation", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous COL4A3 mutations were identified in five (12. 5%) FSGS families and one (2%) sporadic FSGS patient.", "output": {"entities": {"gene": [{"text": "COL4A3", "start": 13, "end": 19}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The purpose of the present study was to examine maspin expression and evaluate its clinicopathological significance in endometrial cancer.", "output": {"entities": {"gene": [{"text": "maspin", "start": 48, "end": 54}], "disease": [{"text": "endometrial cancer", "start": 119, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We propose that 9q34. 11 genomic deletions involving ENG, TOR1A, STXBP1, and SPTAN1 are responsible for multisystemic vascular dysplasia, early-onset primary dystonia, epilepsy, and intellectual disability, therefore revealing cis-genetic effects leading to complex phenotypes.", "output": {"entities": {"gene": [{"text": "TOR1A", "start": 58, "end": 63}], "disease": [{"text": "intellectual disability", "start": 182, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Consequently, a higher neonatal death rate (57. 1%) in hUGT1/Tlr2 (-/-) mice was observed when compared with hUGT1 mice (8. 7%).", "output": {"entities": {"gene": [{"text": "Tlr2", "start": 61, "end": 65}], "disease": [{"text": "neonatal death", "start": 23, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Complexin I expression is dysregulated in a number of neurological diseases including schizophrenia and depression.", "output": {"entities": {"gene": [{"text": "Complexin I", "start": 0, "end": 11}], "disease": [{"text": "depression", "start": 104, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Complexin I", "start": 0, "end": 11}, "tail": {"text": "depression", "start": 104, "end": 114}}]}}, "schema": []}
{"input": "The first priority genes to be selected were genes that are known to be amplified in cancer, which included NKX2. 1, CHST9, CTNND2, SLC25A27, FGFR2, EGFR, and PTGER1.", "output": {"entities": {"gene": [{"text": "CHST9", "start": 117, "end": 122}], "disease": [{"text": "cancer", "start": 85, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "IL-28B gene transfection ex vivo also resulted in growth retardation of tumor cells in mice, through either direct antiproliferative action or induction of antitumor immunity.", "output": {"entities": {"gene": [{"text": "IL-28B", "start": 0, "end": 6}], "disease": [{"text": "growth retardation", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In addition to ER negativity, a higher parenchymal SER on preoperative MRI was an independent factor associated with subsequent IBTR in patients with breast cancer who had undergone breast-conserving treatment.", "output": {"entities": {"gene": [{"text": "MRI", "start": 71, "end": 74}], "disease": [{"text": "breast cancer", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The authors calculated the synergy index to evaluate potential interaction between exposure to ELF magnetic fields (> 0. 2 microT) and genetic susceptibility to acute myocardial infarction (AMI).", "output": {"entities": {"gene": [{"text": "ELF", "start": 95, "end": 98}], "disease": [{"text": "acute myocardial infarction", "start": 161, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "We performed a systematic analysis of the MTNR1A gene in 246 recurrent calcium stone formers (136 men, 110 women; mean age 40. 2 ± 12. 0 years; body mass index 25. 8 ± 4. 5 kg/m2) and 269 healthy controls comparable for age and gender without a history of nephrolithiasis.", "output": {"entities": {"gene": [{"text": "MTNR1A gene", "start": 42, "end": 53}], "disease": [{"text": "body mass index", "start": 144, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that TGF-β1-dependent IGF-IEc expression and MGF production in patients with fibrostenotic Crohn' s disease regulates smooth muscle cell hypertrophy a critical factor that contributes to intestinal stricture formation.", "output": {"entities": {"gene": [{"text": "IGF", "start": 43, "end": 46}], "disease": [{"text": "intestinal stricture", "start": 208, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the amount of ARA54 mRNA appeared to positively correlate with cyclin D1 mRNA levels in specimens of clinical colon carcinomas, indicating that ARA54 is not only involved in the regulation of cyclin D1 expression in cultured cell lines but also in clinical cancer specimens.", "output": {"entities": {"gene": [{"text": "ARA54", "start": 27, "end": 32}], "disease": [{"text": "cancer", "start": 270, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "The present study indicates that p53 can also inhibit the hypoxic induction of Src kinase activity and thereby may prevent VPF/VEGF transcription.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 127, "end": 131}], "disease": [{"text": "hypoxic", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Variant translocation of the bcl-2 gene to immunoglobulin lambda light chain gene in chronic lymphocytic leukemia.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 29, "end": 39}], "disease": [{"text": "translocation", "start": 8, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "These observations indicate that hereditary pancreatitis is caused by CTRC-dependent dysregulation of cationic trypsinogen autoactivation, which results in elevated trypsin levels in the pancreas.", "output": {"entities": {"gene": [{"text": "CTRC", "start": 70, "end": 74}], "disease": [{"text": "hereditary pancreatitis", "start": 33, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTRC", "start": 70, "end": 74}, "tail": {"text": "hereditary pancreatitis", "start": 33, "end": 56}}]}}, "schema": []}
{"input": "Osteoporosis-pseudoglioma sydrome (OPPG) is an autosomal recessive disorder with early-onset severe osteoporosis and blindness, caused by biallelic loss-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene.", "output": {"entities": {"gene": [{"text": "LRP5", "start": 234, "end": 238}], "disease": [{"text": "Osteoporosis-pseudoglioma", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRP5", "start": 234, "end": 238}, "tail": {"text": "Osteoporosis-pseudoglioma", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "Expression of angiogenic factors such as VEGF under conditions of hypoxia or other kinds of cell stress contributes to neovascularization during wound healing.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 41, "end": 45}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Continuous measurement of cell surface IRAP activity allowed accurate evaluations of GLUT4/IRAP vesicle translocation and of the establishment of defects in OLETF rats.", "output": {"entities": {"gene": [{"text": "IRAP", "start": 39, "end": 43}], "disease": [{"text": "vesicle", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The structures in the right hemisphere are found to be more affected by the APOE genotype than those in the left hemisphere and we identify the relevant regions in which significant atrophy occurs to be parts of the basolateral, centromedial, and lateral nucleus subregions of the amygdala and the CA1 and subiculum subregions of the hippocampus.", "output": {"entities": {"gene": [{"text": "CA1", "start": 298, "end": 301}], "disease": [{"text": "atrophy", "start": 182, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "The aim of our experimental study was to verify the S100B increase in long bone fracture without haemorrhagic shock.", "output": {"entities": {"gene": [{"text": "S100B", "start": 52, "end": 57}], "disease": [{"text": "long bone fracture", "start": 70, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Male Sprague-Dawley rats with chronic constriction injury (CCI)-induced neuropathic pain were microinjected into the ventral PAG with normal saline (NS), pHSVIRES-lacZ (SHZ), or HSV-1 amplicon vector pHSVIRES-hPPE-lacZ (SHPZ), respectively.", "output": {"entities": {"gene": [{"text": "PAG", "start": 125, "end": 128}], "disease": [{"text": "neuropathic pain", "start": 72, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "However, the potential roles of MIF in regulating hepatocellular carcinoma (HCC) tumor cell migration and the expression of angiogenic factors by HCC tumor cells have not been studied yet.", "output": {"entities": {"gene": [{"text": "MIF", "start": 32, "end": 35}], "disease": [{"text": "hepatocellular carcinoma", "start": 50, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In addition, we have documented that ANG II-induced skeletal muscle insulin resistance is associated with generation of reactive oxygen species (ROS).", "output": {"entities": {"gene": [{"text": "ANG", "start": 37, "end": 40}], "disease": [{"text": "insulin resistance", "start": 68, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome.", "output": {"entities": {"gene": [{"text": "MKS1", "start": 31, "end": 35}], "disease": [{"text": "BBS", "start": 40, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MKS1", "start": 31, "end": 35}, "tail": {"text": "BBS", "start": 40, "end": 43}}]}}, "schema": []}
{"input": "Variegate porphyria is an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane.", "output": {"entities": {"gene": [{"text": "protoporphyrinogen oxidase", "start": 104, "end": 130}], "disease": [{"text": "Variegate porphyria", "start": 0, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "protoporphyrinogen oxidase", "start": 104, "end": 130}, "tail": {"text": "Variegate porphyria", "start": 0, "end": 19}}]}}, "schema": []}
{"input": "Assessment of these genes in the non-neoplastic cerebellum (from which medulloblastomas develop) revealed strong somatic methylation affecting S100A2 and S100A4, whereas S100A6 and S100A10 were unmethylated.", "output": {"entities": {"gene": [{"text": "S100A4", "start": 154, "end": 160}], "disease": [{"text": "medulloblastomas", "start": 71, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A4", "start": 154, "end": 160}, "tail": {"text": "medulloblastomas", "start": 71, "end": 87}}]}}, "schema": []}
{"input": "Various oncogenes such as c-Src, v-Raf, and Ras, and multiple environmental stimuli, including hypoxia and ultraviolet radiation (UVR), can regulate VEGF expression under certain conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 149, "end": 153}], "disease": [{"text": "hypoxia", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The karyotype of a pulmonary metastasis exhibited the following complex numeric and structural aberrations: 72 approximately 74, XXY,-5, + 6, + del (8) (p21), del (9) (p22), + 10, der (11) t (3; 11) (p21; p15), del (12) (q13), der (13) t (5; 13) (q13; q34), + 18, + 19, + 20,-22 [cp10].", "output": {"entities": {"gene": [{"text": "p22", "start": 168, "end": 171}], "disease": [{"text": "pulmonary metastasis", "start": 19, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We found a strong association (P = 0. 0003-0. 00007) between three markers localized within or near the INSIG2 gene (rs17587100, rs10490624 and rs17047764) and antipsychotic-related weight gain.", "output": {"entities": {"gene": [{"text": "INSIG2", "start": 104, "end": 110}], "disease": [{"text": "weight gain", "start": 182, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "INSIG2", "start": 104, "end": 110}, "tail": {"text": "weight gain", "start": 182, "end": 193}}]}}, "schema": []}
{"input": "The antiestrogenic effects of marijuana smoke condensate (MSC) and three major cannabinoids, ie., delta9-tetrahydrocannabinol (THC), cannabidiol (CBD), and cannabinol (CBN), were evaluated using in vitro bioassays, viz., the human breast cancer cell proliferation assay, the recombinant human estrogen receptor (ER) competitive binding assay, and the reporter gene assay.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 293, "end": 310}], "disease": [{"text": "marijuana", "start": 30, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "estrogen receptor", "start": 293, "end": 310}, "tail": {"text": "marijuana", "start": 30, "end": 39}}]}}, "schema": []}
{"input": "Conversely, mice with targeted S-HTT gene disruption are protected against hypoxic PH, and selective 5-HTT inhibitors reverse or prevent experimental PH.", "output": {"entities": {"gene": [{"text": "HTT gene", "start": 33, "end": 41}], "disease": [{"text": "hypoxic", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that ELP3 and CTU1/2, partner enzymes in U34 mcm & lt; sup & gt; 5 & lt;/sup & gt; s & lt; sup & gt; 2 & lt;/sup & gt;-tRNA modification, are up-regulated in human breast cancers and sustain metastasis.", "output": {"entities": {"gene": [{"text": "CTU1", "start": 28, "end": 32}], "disease": [{"text": "breast cancers", "start": 178, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTU1", "start": 28, "end": 32}, "tail": {"text": "breast cancers", "start": 178, "end": 192}}]}}, "schema": []}
{"input": "Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 53, "end": 58}], "disease": [{"text": "Dejerine-Sottas disease", "start": 67, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 53, "end": 58}, "tail": {"text": "Dejerine-Sottas disease", "start": 67, "end": 90}}]}}, "schema": []}
{"input": "A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.", "output": {"entities": {"gene": [{"text": "microsomal triglyceride transfer protein", "start": 106, "end": 146}], "disease": [{"text": "abetalipoproteinemia", "start": 8, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "microsomal triglyceride transfer protein", "start": 106, "end": 146}, "tail": {"text": "abetalipoproteinemia", "start": 8, "end": 28}}]}}, "schema": []}
{"input": "Temporal gliomas can be classified into two types, MTG and LTG which have different growth patterns, surgical outcomes and prognoses.", "output": {"entities": {"gene": [{"text": "LTG", "start": 59, "end": 62}], "disease": [{"text": "gliomas", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Therefore, abnormalities of the POU1F1 gene are known to be responsible for a phenotype causing combined pituitary hormone deficiency (CPHD) involving growth hormone, prolactin and thyrotropin.", "output": {"entities": {"gene": [{"text": "POU1F1 gene", "start": 32, "end": 43}], "disease": [{"text": "pituitary hormone deficiency", "start": 105, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The present study shows that the higher expressing MPO genotype is overrepresented in early onset multiple sclerosis in females, implicating MPO in this demyelinating disease.", "output": {"entities": {"gene": [{"text": "MPO", "start": 51, "end": 54}], "disease": [{"text": "demyelinating disease", "start": 153, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "GH treatment normalized the levels of IGF-I mRNA, aggravated the acidosis-related inhibition of the GH receptor gene, and did not modify the serum levels of GHBP and IGF-I.", "output": {"entities": {"gene": [{"text": "GHBP", "start": 157, "end": 161}], "disease": [{"text": "acidosis", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "These results support targeting MARCO on the surface of DCs to improve trafficking and induction of anti-tumor immunity.", "output": {"entities": {"gene": [{"text": "MARCO", "start": 32, "end": 37}], "disease": [{"text": "tumor immunity", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Although HIF-1alpha was induced by hypoxia, VEGF reporter constructs with selectively mutated hypoxia-response elements remained responsive to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 44, "end": 48}], "disease": [{"text": "hypoxia", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Moreover, DDX3 expression correlated with hypoxia-related proteins EGFR, HER2, FOXO4, ERα and c-Met in a HIF-1α dependent fashion, and with COMMD1, FER kinase, Akt1, E-cadherin, TfR and FOXO3A independent of HIF-1α.", "output": {"entities": {"gene": [{"text": "FER", "start": 148, "end": 151}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "We investigated NRG1-induced activation of the AKT and extracellular signal-regulated kinase (ERK) systems by the measurement of the phosphorylated AKT/ERK to total AKT/ERK ratio in peripheral B lymphoblasts of patients with FXS, IQ-matched controls with intellectual disability (obstetric complications, preterm birth, perinatal hypoxia, and low birth weight), and typically developed healthy participants.", "output": {"entities": {"gene": [{"text": "AKT", "start": 47, "end": 50}], "disease": [{"text": "preterm birth", "start": 305, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "We included patients suffering from Friedreich' s ataxia (FRDA, n = 83), early onset cerebellar ataxia (EOCA, n = 30), autosomal dominant cerebellar ataxia (ADCA) type I (ADCA-I, n = 273), ADCA-III (n = 13) and multiple system atrophy (MSA, n = 67).", "output": {"entities": {"gene": [{"text": "ADCA", "start": 157, "end": 161}], "disease": [{"text": "multiple system atrophy", "start": 211, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "None of 41 AIDP patients, including 8 cytomegalovirus-related AIDP patients, and 23 CIDP had IgG or IgM antibodies to ezrin, radixin and moesin; whereas, one patient with cytomegalovirus-related AIDP had anti-ezrin IgM antibodies.", "output": {"entities": {"gene": [{"text": "radixin", "start": 125, "end": 132}], "disease": [{"text": "cytomegalovirus", "start": 38, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The relevance of IP-10/CXCR3 signaling in myasthenia was validated by similar observations in MG patients.", "output": {"entities": {"gene": [{"text": "CXCR3", "start": 23, "end": 28}], "disease": [{"text": "myasthenia", "start": 42, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetic analysis of a short-term culture from a round cell liposarcoma revealed ins (12; 16) (q13; p11. 2p13) as a sole abnormality in all metaphase cells studied.", "output": {"entities": {"gene": [{"text": "p11", "start": 103, "end": 106}], "disease": [{"text": "round cell liposarcoma", "start": 52, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that hypoxia and its accompanying low pH enrich for MMR-deficient cells and that loss of MMR renders human colon carcinoma cells hypersensitive to the ability of hypoxia to induce microsatellite instability and generate highly drug-resistant clones in the surviving population.", "output": {"entities": {"gene": [{"text": "MMR", "start": 75, "end": 78}], "disease": [{"text": "microsatellite instability", "start": 203, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "In a three generation Dutch family with SPPK, we have found a G--& gt; A transition in the 3 \" splice acceptor site of intron 2 of the DSG1 gene which segregated with the disease phenotype.", "output": {"entities": {"gene": [{"text": "DSG1", "start": 135, "end": 139}], "disease": [{"text": "SPPK", "start": 40, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DSG1", "start": 135, "end": 139}, "tail": {"text": "SPPK", "start": 40, "end": 44}}]}}, "schema": []}
{"input": "Inhibition of the downstream effectors of PLCγ1, including Ca (2 +) and protein kinase C (PKCγ), also blocks the membrane translocation of Hsp90α, while activation of PKCγ leads to increased levels of cell-surface Hsp90α.", "output": {"entities": {"gene": [{"text": "PLCγ1", "start": 42, "end": 47}], "disease": [{"text": "translocation", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "A total of 55 cases were identified, of which eight revealed a complex der (8) t (8; 14; 18) with an MYC-IGH-BCL2 rearrangement resulting from translocation of BCL2 and MYC with a single disrupted IGH allele.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 109, "end": 113}], "disease": [{"text": "translocation", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Both single-gene and gene-set enrichment analyses in genome-wide association data from the largest schizophrenia sample to date of 13, 689 cases and 18, 226 controls show significant association of HIST1H1E and MAPK3, and enrichment of our PSD proteome.", "output": {"entities": {"gene": [{"text": "MAPK3", "start": 211, "end": 216}], "disease": [{"text": "schizophrenia", "start": 99, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAPK3", "start": 211, "end": 216}, "tail": {"text": "schizophrenia", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "However, protein levels of MARCKS were significantly increased in the membrane but not in cytosol fraction of PFC and hippocampus obtained from depressed suicide subjects as compared to normal controls.", "output": {"entities": {"gene": [{"text": "MARCKS", "start": 27, "end": 33}], "disease": [{"text": "suicide", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "A subtle reciprocal translocation t (14; 22) (q32; q11 approximately 12) was identified using SKY in two patients and a second, much larger, translocation t (11; 22) (q13; q13) was identified using G-banding in three patients.", "output": {"entities": {"gene": [{"text": "SKY", "start": 94, "end": 97}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Haplotype analysis placed the WS1 locus to a 45. 74 cM region between D2S117 and D2S206, in close proximity to the PAX3 gene on chromosome 2q35.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 115, "end": 119}], "disease": [{"text": "WS1", "start": 30, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX3", "start": 115, "end": 119}, "tail": {"text": "WS1", "start": 30, "end": 33}}]}}, "schema": []}
{"input": "While BRCA1 + induces breast cancer by causing genome instability, most of the knowledge is known about somatic genome instability in breast cancer cells but not germline genome instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 6, "end": 11}], "disease": [{"text": "genome instability", "start": 47, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Therefore, there is as yet no evidence for an association between polymorphisms of Eco RV-digested genomic DNA probed with the pGA5 T-cell receptor alpha-chain complementary deoxyribonucleic acid and the predisposition to inflammatory bowel disease.", "output": {"entities": {"gene": [{"text": "pGA5", "start": 127, "end": 131}], "disease": [{"text": "bowel disease", "start": 235, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "The luciferase and the endogenous VEGF mRNA expression were apparently lower in a variant carrying mutations in both p53 alleles than in a parental line harboring wt-p53, implying that some types of mutant p53 constitutively accumulated in cells can decrease both the basal and the hypoxia-induced expressions in addition to wt-p53.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 34, "end": 38}], "disease": [{"text": "hypoxia", "start": 282, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "We studied the effect of MFGE8 deficiency on retinal homeostasis with age and on choroidal neovascularization (CNV) in mice.", "output": {"entities": {"gene": [{"text": "MFGE8", "start": 25, "end": 30}], "disease": [{"text": "choroidal neovascularization", "start": 81, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We used short hairpin RNA (shRNA)-mediated RNA interference to knock down TF expression in the human metastatic melanoma cell line LOX-L. After transfection with the shRNA construct, 3 stable clones with significantly downregulated TF expression were established.", "output": {"entities": {"gene": [{"text": "LOX", "start": 131, "end": 134}], "disease": [{"text": "metastatic melanoma", "start": 101, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Therefore, further studies of CORIN biology in early pregnancy may identify new therapeutic targets to improve implantation quality in early pregnancy and potentially reduce the rates of pregnancy complications caused by inadequate implantation (pre-eclampsia, FGR and miscarriage).", "output": {"entities": {"gene": [{"text": "FGR", "start": 261, "end": 264}], "disease": [{"text": "miscarriage", "start": 269, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "The DRA gene appears to be a single-copy gene present on chromosome 7, a chromosome associated with colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "DRA", "start": 4, "end": 7}], "disease": [{"text": "tumorigenesis", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We found that PDE4A is expressed in medulloblastoma, glioblastoma, oligodendroglioma, ependymoma, and meningioma.", "output": {"entities": {"gene": [{"text": "PDE4A", "start": 14, "end": 19}], "disease": [{"text": "medulloblastoma", "start": 36, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Variants in ADH7 were not associated with alcohol intake or GC risk.", "output": {"entities": {"gene": [{"text": "ADH7", "start": 12, "end": 16}], "disease": [{"text": "alcohol intake", "start": 42, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In order to explore whether gene CHFR was inactivated by methylation in leukemia cells, the expression of CHFR was examined before and after treatment with demethylation agent in Molt-4, Jurkat and U937 leukemia cell lines by means of RT-PCR.", "output": {"entities": {"gene": [{"text": "CHFR", "start": 33, "end": 37}], "disease": [{"text": "leukemia", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Levetiracetam (LEV), a newer antiepileptic drug (AED) useful for several epilepsy syndromes, binds to SV2A.", "output": {"entities": {"gene": [{"text": "SV2A", "start": 102, "end": 106}], "disease": [{"text": "epilepsy syndromes", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that MK is expressed in the majority of HCC tissues and rarely in surrounding tissues in chronic liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 62, "end": 65}], "disease": [{"text": "liver diseases", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Using real-time reverse transcriptase-polymerase chain reaction (RT-PCR), we examined the expression of CKS2 mRNA in tumors and the corresponding normal esophageal tissues that were obtained from 62 patients.", "output": {"entities": {"gene": [{"text": "CKS2", "start": 104, "end": 108}], "disease": [{"text": "esophageal", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "On Western blot analysis, calpain protein was increased 2-3-fold at 3-5 days after infection with ARHI adenovirus.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 98, "end": 102}], "disease": [{"text": "adenovirus", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Association study on the DUSP6 gene, an affective disorder candidate gene on 12q23, performed by using fluorescence resonance energy transfer-based melting curve analysis on the LightCycler.", "output": {"entities": {"gene": [{"text": "DUSP6", "start": 25, "end": 30}], "disease": [{"text": "affective disorder", "start": 40, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DUSP6", "start": 25, "end": 30}, "tail": {"text": "affective disorder", "start": 40, "end": 58}}]}}, "schema": []}
{"input": "In order to determine the possible role of the MAO region in susceptibility to affective disorders in an independent sample, we have genotyped 83 probands of bipolar affective disorder families, 56 sets of parents of bipolar probands, and 84 normal controls for intronic simple sequence repeat polymorphisms of the MAO-A and MAO-B genes.", "output": {"entities": {"gene": [{"text": "MAO-B", "start": 325, "end": 330}], "disease": [{"text": "affective disorders", "start": 79, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAO-B", "start": 325, "end": 330}, "tail": {"text": "affective disorders", "start": 79, "end": 98}}]}}, "schema": []}
{"input": "We have studied two IBS families and have identified heterozygous point mutations in codon 493 of the K2e gene in both families.", "output": {"entities": {"gene": [{"text": "K2e", "start": 102, "end": 105}], "disease": [{"text": "IBS", "start": 20, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K2e", "start": 102, "end": 105}, "tail": {"text": "IBS", "start": 20, "end": 23}}]}}, "schema": []}
{"input": "The extracellular BDNF scavenger TrkB-Fc prevented dendritic overgrowth in wt MECP2-overexpressing neurons, while overexpression of the Bdnf gene reverted the dendritic atrophy caused by Mecp2-knockdown.", "output": {"entities": {"gene": [{"text": "Bdnf gene", "start": 136, "end": 145}], "disease": [{"text": "atrophy", "start": 169, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Pretranslational suppression of glucose transport protein, isozyme 4 (GLUT 4), is a major mechanism of insulin resistance in adipocytes in obesity and non-insulin-dependent diabetes mellitus (NIDDM).", "output": {"entities": {"gene": [{"text": "GLUT", "start": 70, "end": 74}], "disease": [{"text": "insulin resistance", "start": 103, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our studies demonstrate that GLS is required for tumorigenesis and support small molecule and genetic inhibition of GLS as potential approaches for targeting the tumor cell-autonomous dependence on GLS for cancer therapy.", "output": {"entities": {"gene": [{"text": "GLS", "start": 43, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "A recent study has suggested that the deletion allele (D allele) of the angiotensin converting enzyme (ACE) gene is associated with hypoxemia in SARS patients.", "output": {"entities": {"gene": [{"text": "ACE", "start": 103, "end": 106}], "disease": [{"text": "hypoxemia", "start": 132, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Although no structural chromosome aberrations at 8q24, the c-MYC locus, were distinct, the mRNA level of c-MYC in these myeloma cell lines was 30-50-fold that in normal peripheral blood lymphocytes.", "output": {"entities": {"gene": [{"text": "c-MYC", "start": 59, "end": 64}], "disease": [{"text": "chromosome aberrations", "start": 23, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The effect of weight reduction on GIPR gene expression in subcutaneous fat tissue was studied in a subset of 14 women.", "output": {"entities": {"gene": [{"text": "GIPR gene", "start": 34, "end": 43}], "disease": [{"text": "weight reduction", "start": 14, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous mutations in TRPA1, which encodes the transient receptor potential cation channel, can cause familial episodic pain syndromes, and variants of genes coding for the voltage-gated sodium channels Nav1. 8 (SCN10A) and Nav1. 9 (SCN11A) lead to small-fibre neuropathy and congenital insensitivity to pain, respectively.", "output": {"entities": {"gene": [{"text": "SCN10A", "start": 216, "end": 222}], "disease": [{"text": "neuropathy", "start": 265, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-1beta stimulation, not hypoxia, transcriptionally downregulated ADAMTS1 in chondrosarcoma cells, whereas VEGF-A expression was upregulated either by hypoxia or IL-1beta.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 117, "end": 123}], "disease": [{"text": "hypoxia", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the several patients survived from neuroblastoma with both high mRNA expressions of MYCN and RUNX3, suggesting that RUNX3 high expression might overcome the aggressive behavior of MYCN.", "output": {"entities": {"gene": [{"text": "RUNX3", "start": 108, "end": 113}], "disease": [{"text": "aggressive behavior", "start": 172, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "However, no significant effect of CX3CR1 on ischemia-induced neurodegeneration was seen.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 34, "end": 40}], "disease": [{"text": "neurodegeneration", "start": 61, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The role of SULF1 in growth factor signaling and its effects on human tumorigenesis are under active investigation.", "output": {"entities": {"gene": [{"text": "SULF1", "start": 12, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe three families with BSS, one with FC, and two with MFT phenotypes associated with novel and recurrent mutations in CYLD.", "output": {"entities": {"gene": [{"text": "CYLD", "start": 143, "end": 147}], "disease": [{"text": "BSS", "start": 48, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYLD", "start": 143, "end": 147}, "tail": {"text": "BSS", "start": 48, "end": 51}}]}}, "schema": []}
{"input": "Genetic abnormalities associated with AML-MRC are often associated with adverse prognostic features, and many cases are preceded by a myelodysplastic syndrome (MDS) or a myelodysplastic/myeloproliferative neoplasm.", "output": {"entities": {"gene": [{"text": "MRC", "start": 42, "end": 45}], "disease": [{"text": "myelodysplastic/myeloproliferative neoplasm", "start": 170, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "We summarize experimental data describing the roles of BDNF, VGF and other neuropeptides in depression and how they may be acting through the generation of new neurons and altered synaptic activity.", "output": {"entities": {"gene": [{"text": "VGF", "start": 61, "end": 64}], "disease": [{"text": "depression", "start": 92, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGF", "start": 61, "end": 64}, "tail": {"text": "depression", "start": 92, "end": 102}}]}}, "schema": []}
{"input": "Intrinsic susceptibility MRI identifies tumors with ALKF1174L mutation in genetically-engineered murine models of high-risk neuroblastoma.", "output": {"entities": {"gene": [{"text": "MRI", "start": 25, "end": 28}], "disease": [{"text": "high-risk neuroblastoma", "start": 114, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The Ca2 +-dependent NOS activity, which indicates NOS1 and NOS3 expression, was significantly reduced in lung carcinomas compared with adjacent non-tumour tissue (P < 0. 004).", "output": {"entities": {"gene": [{"text": "NOS1", "start": 50, "end": 54}], "disease": [{"text": "carcinomas", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We report here a novel DDR2 missense mutation, c. 370C & #8201; & gt; & #8201; T (p. Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing.", "output": {"entities": {"gene": [{"text": "DDR2", "start": 23, "end": 27}], "disease": [{"text": "SMED, SL-AC", "start": 120, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DDR2", "start": 23, "end": 27}, "tail": {"text": "SMED, SL-AC", "start": 120, "end": 131}}]}}, "schema": []}
{"input": "We identified LZTR1 variants in 43% and 30% of familial (three of the seven families) and sporadic patients, respectively.", "output": {"entities": {"gene": [{"text": "LZTR1", "start": 14, "end": 19}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "SNAI2 mutation causes human piebaldism.", "output": {"entities": {"gene": [{"text": "SNAI2", "start": 0, "end": 5}], "disease": [{"text": "piebaldism", "start": 28, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SNAI2", "start": 0, "end": 5}, "tail": {"text": "piebaldism", "start": 28, "end": 38}}]}}, "schema": []}
{"input": "Among the subjects studied, circulating chemerin levels were associated with obesity markers but not with markers of insulin resistance.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 40, "end": 48}], "disease": [{"text": "insulin resistance", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the expression levels of PSGL-1 on CD14 + + CD16 + monocytes were significantly higher in patients with plaque rupture or intracoronary thrombus assessed by FD-OCT. Up-regulation of PSGL-1 on CD14 + + CD16 + monocytes may be a crucial role in plaque rupture and thrombus formation.", "output": {"entities": {"gene": [{"text": "CD14", "start": 45, "end": 49}], "disease": [{"text": "plaque", "start": 114, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Pleomorphic (giant and spindle cell) carcinoma is genetically distinct from adenocarcinoma and squamous cell carcinoma by K-ras-2 and p53 analysis.", "output": {"entities": {"gene": [{"text": "p53", "start": 134, "end": 137}], "disease": [{"text": "giant", "start": 13, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Further research proved that miR-30a can regulate the expression of RunX2 by binding to its 3'-UTR, which influence the osteoclast differentiation and osteolysis formation.", "output": {"entities": {"gene": [{"text": "UTR", "start": 95, "end": 98}], "disease": [{"text": "osteolysis", "start": 151, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.", "output": {"entities": {"gene": [{"text": "PSD-95", "start": 63, "end": 69}], "disease": [{"text": "bipolar disorder", "start": 85, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD-95", "start": 63, "end": 69}, "tail": {"text": "bipolar disorder", "start": 85, "end": 101}}]}}, "schema": []}
{"input": "The reactivity of IgG antibodies present in the sera from mothers with systemic lupus erythematosus and Sjögren' s syndrome and in the sera from asymptomatic mothers (a longitudinal study of 192 samples from 66 subjects) was investigated by ELISA using Ro52, Ro60 and 48-kDa La/SSB antigen proteins, as well as 45 synthetic peptides, 13-24 residues long, of Ro52/Ro60 proteins.", "output": {"entities": {"gene": [{"text": "Ro60", "start": 259, "end": 263}], "disease": [{"text": "asymptomatic", "start": 145, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The data indicate that mutations in RDH5 are the primary cause of fundus albipunctatus.", "output": {"entities": {"gene": [{"text": "RDH5", "start": 36, "end": 40}], "disease": [{"text": "fundus albipunctatus", "start": 66, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDH5", "start": 36, "end": 40}, "tail": {"text": "fundus albipunctatus", "start": 66, "end": 86}}]}}, "schema": []}
{"input": "Immunization with attenuated Listeria monocytogenes-secreting OVA before intracerebral infection strongly increased the number of intracerebral OVA-specific CD8 T cells aggravating neurological disease.", "output": {"entities": {"gene": [{"text": "CD8", "start": 157, "end": 160}], "disease": [{"text": "neurological disease", "start": 181, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Thus, cytogenetic abnormalities of 12p in hematologic malignancies result in at least three different molecular changes: deletions of KIP1, amplifications of CCND2, and structural rearrangements of TEL.", "output": {"entities": {"gene": [{"text": "TEL", "start": 198, "end": 201}], "disease": [{"text": "cytogenetic abnormalities", "start": 6, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The model contained 13 single-nucleotide polymorphisms (from genes AGTR1, ALOX15, INSR, PRKAB1, IL1R2, ESR2, KCNK1, FBLN5, PPARA, VEGFA, PON1, TDRD6, PLA2G7, and 1 ancestry informative marker) and 5 clinical variables (sex, age, weight, smoking, and diabetes mellitus) and achieved 85% predictive accuracy, as measured by area under the receiver operating characteristic curve.", "output": {"entities": {"gene": [{"text": "INSR", "start": 82, "end": 86}], "disease": [{"text": "smoking", "start": 237, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE).", "output": {"entities": {"gene": [{"text": "SLC6A1", "start": 121, "end": 127}], "disease": [{"text": "MAE", "start": 218, "end": 221}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC6A1", "start": 121, "end": 127}, "tail": {"text": "MAE", "start": 218, "end": 221}}]}}, "schema": []}
{"input": "Thus, augmented VEGF/VEGF receptor-2 autocrine mechanism stimulated HUVEC migration under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 16, "end": 20}], "disease": [{"text": "hypoxic", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In primary ovarian cancers, CGIs of GPR150 (in 4 of 15 cancers), ITGA8 (2/15), PRTFDC1 (1/15), and HOXD11 (1/15) were methylated.", "output": {"entities": {"gene": [{"text": "HOXD11", "start": 99, "end": 105}], "disease": [{"text": "ovarian cancers", "start": 11, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXD11", "start": 99, "end": 105}, "tail": {"text": "ovarian cancers", "start": 11, "end": 26}}]}}, "schema": []}
{"input": "The fusion transcript AML1/ETO corresponding to translocation t (8; 21) (q22; q22) can be found in approximately 7-12% of childhood de novo AML.", "output": {"entities": {"gene": [{"text": "AML1", "start": 22, "end": 26}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The relationship between the factors examined in the present study, clinicopathological features, and survival of the patients did not reveal any significant correlations with the exception of smoking, which was associated with microsatellite alterations (loss of heterozygosity and microsatellite instability) at the 9p21-22 locus (P = 0. 04) and the immunophenotypes p53 (P)/MDM2 (P) (P = 0. 04) and p16 (Ab)/pRb (Ab)/p53 (P)/MDM2 (P) (P = 0. 03), respectively.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 377, "end": 381}], "disease": [{"text": "microsatellite instability", "start": 283, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.", "output": {"entities": {"gene": [{"text": "ABCG-1", "start": 341, "end": 347}], "disease": [{"text": "CRF", "start": 0, "end": 3}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCG-1", "start": 341, "end": 347}, "tail": {"text": "CRF", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Furthermore, hypoxia recruited STAT3, HIF-1alpha, and p300 to the VEGF promoter and induced histone H3 acetylation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 66, "end": 70}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found that ADAR2 expression tended to be decreased in the postmortem brains of patients with schizophrenia and bipolar disorder.", "output": {"entities": {"gene": [{"text": "ADAR2", "start": 29, "end": 34}], "disease": [{"text": "schizophrenia", "start": 111, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADAR2", "start": 29, "end": 34}, "tail": {"text": "schizophrenia", "start": 111, "end": 124}}]}}, "schema": []}
{"input": "Regarding all COG6-related disorders a genotype-phenotype correlation can be discerned ranging from deep intronic mutations found in Shaheen syndrome as the mildest form to loss-of-function mutations leading to early lethal CDG phenotypes.", "output": {"entities": {"gene": [{"text": "COG6", "start": 14, "end": 18}], "disease": [{"text": "Shaheen syndrome", "start": 133, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COG6", "start": 14, "end": 18}, "tail": {"text": "Shaheen syndrome", "start": 133, "end": 149}}]}}, "schema": []}
{"input": "In pemphigus foliaceus (PF), autoantibodies against desmoglein 1 (Dsg1) cause blisters.", "output": {"entities": {"gene": [{"text": "Dsg1", "start": 66, "end": 70}], "disease": [{"text": "blisters", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "A highly invasive glioma cell line, U87, expressed high levels of ephrin-B2 compared with relatively less invasive cell lines.", "output": {"entities": {"gene": [{"text": "U87", "start": 36, "end": 39}], "disease": [{"text": "glioma", "start": 18, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Tanshinone IIA protected brain tissues against ischemic and hypoxic damage in vivo and in vitro by mediating brain iron homeostasis which was associated with the downregulation of DMT1 and TfR, and the upregulation of Fpn1 and Heph.", "output": {"entities": {"gene": [{"text": "Fpn1", "start": 218, "end": 222}], "disease": [{"text": "hypoxic", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We established a mouse model of sporadic oncogene-driven breast tumorigenesis in a series of mutant mouse strains with specific DDR deficiencies to reveal a role for the Mre11 complex in the response to oncogene activation.", "output": {"entities": {"gene": [{"text": "DDR", "start": 128, "end": 131}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The expression patterns of nm23-H1 and c-erbB-2 proteins were analyzed by immunohistochemical staining using formalin fixed, paraffin embedded sections of 88 cases of invasive carcinoma (39 matched pairs of adenocarcinoma and squamous cell carcinoma, 8 cases of adenosquamous carcinoma, and 2 cases of undifferentiated carcinoma) and 31 cases of preinvasive lesions of the uterine cervix.", "output": {"entities": {"gene": [{"text": "nm23-H1", "start": 27, "end": 34}], "disease": [{"text": "adenosquamous carcinoma", "start": 262, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "We investigated the influence of major cardiovascular risk factors (smoking, hypercholesterolemia, diabetes mellitus) on the association between angiotensin-converting enzyme (ACE) gene insertion (I)/deletion (D) polymorphism and echocardiographic left ventricular mass in 225 patients with sustained hypertension, assessed by ambulatory blood pressure monitoring.", "output": {"entities": {"gene": [{"text": "ACE", "start": 176, "end": 179}], "disease": [{"text": "left ventricular mass", "start": 248, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.", "output": {"entities": {"gene": [{"text": "p63", "start": 0, "end": 3}], "disease": [{"text": "adhesion", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Four general types of pathogenic effects with various retroviruses have been observed including: hemorrhage (TR1. 3), spongiform encephalopathy (CasBrE, FrCasE, PVC211, NT40, Mol-ts1), demyelination with inflammatory lesions (HTLV-1, visna, CAEV), and encephalopathy with gliosis and proinflammatory chemokines and cytokines, usually with microglial giant cells and nodules [human immunodeficiencyvirus (HIV), feline immunodeficiencyvirus (FIV), simian immunodeficiency virus (SIV), Fr98].", "output": {"entities": {"gene": [{"text": "TR1", "start": 109, "end": 112}], "disease": [{"text": "encephalopathy", "start": 129, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "A total of 221 women with pre-eclampsia, eclampsia and HELLP syndrome and 147 healthy female controls were genotyped for GSTM1 and GSTT1 polymorphisms by polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 121, "end": 126}], "disease": [{"text": "pre-eclampsia", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Initial results revealed significant association at 0. 05 level of significance between several KIFC1 variations and AERD (P = 0. 01-0. 05, OR = 1. 81-1. 90) as well as fall rate of forced expiratory volume in the 1st second, an important diagnostic marker of airways constriction (P = 0. 04-0. 05).", "output": {"entities": {"gene": [{"text": "KIFC1", "start": 96, "end": 101}], "disease": [{"text": "fall", "start": 169, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "BDNF overexpression in YAC128 mice prevented loss and atrophy of striatal neurons and motor dysfunction, normalized expression of the striatal dopamine receptor D2 and enkephalin, and improved procedural learning.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 0, "end": 4}], "disease": [{"text": "atrophy", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Thus, an inherited defect in CM hamsters leads to increased expression of p27-h in advance of the development of hypertrophy and heart failure.", "output": {"entities": {"gene": [{"text": "p27", "start": 74, "end": 77}], "disease": [{"text": "heart failure", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).", "output": {"entities": {"gene": [{"text": "LMNA", "start": 0, "end": 4}], "disease": [{"text": "progeria", "start": 38, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNA", "start": 0, "end": 4}, "tail": {"text": "progeria", "start": 38, "end": 46}}]}}, "schema": []}
{"input": "We have also quantified the mRNA of six genes previously identified as markers of the biopsychological stress associated with major depression: FOS, DUSP1, OGG1, STMN1, p16 (INK4a) and TERT.", "output": {"entities": {"gene": [{"text": "INK4a", "start": 174, "end": 179}], "disease": [{"text": "major depression", "start": 126, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "INK4a", "start": 174, "end": 179}, "tail": {"text": "major depression", "start": 126, "end": 142}}]}}, "schema": []}
{"input": "We tested single nucleotide polymorphisms (SNP) in pituitary growth hormone (GH1) and growth hormone-releasing hormone receptor (GHRHR) genes for an association with mammographic density, hormones of the growth hormone/IGF-I axis, and anthropometric variables.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 219, "end": 224}], "disease": [{"text": "mammographic density", "start": 166, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Fas antigen and sporadic Alzheimer' s disease in Southern Italy: evaluation of two polymorphisms in the TNFRSF6 gene.", "output": {"entities": {"gene": [{"text": "Fas antigen", "start": 0, "end": 11}], "disease": [{"text": "sporadic", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "AIP mutations were detected in 16 (3. 6%) of the 443 patients, comprising six of 148 patients with acromegaly (4. 1%), six of 132 patients with prolactinomas (4. 5%), one of 113 patients with nonfunctioning adenomas (0. 9%), three of 44 patients with corticotropic adenomas (6. 8%), and none of the six patients with thyrotropic adenomas.", "output": {"entities": {"gene": [{"text": "AIP", "start": 0, "end": 3}], "disease": [{"text": "prolactinomas", "start": 144, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIP", "start": 0, "end": 3}, "tail": {"text": "prolactinomas", "start": 144, "end": 157}}]}}, "schema": []}
{"input": "Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.", "output": {"entities": {"gene": [{"text": "IDH2", "start": 88, "end": 92}], "disease": [{"text": "Ollier disease", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH2", "start": 88, "end": 92}, "tail": {"text": "Ollier disease", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "Top SNPs affecting glucose metabolism variables were as follows: fasting glucose, rs26125 (PPARGC1B); fasting insulin, rs4759277 (LRP1); C-peptide, rs4759277 (LRP1); homeostasis assessment of insulin resistance, rs4759277 (LRP1); quantitative insulin sensitivity check index, rs184003 (AGER); sensitivity index, rs7301876 (ABCC9), acute insulin response to glucose, rs290481 (TCF7L2); and disposition index, rs12691 (CEBPA).", "output": {"entities": {"gene": [{"text": "PPARGC1B", "start": 91, "end": 99}], "disease": [{"text": "insulin sensitivity", "start": 243, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib.", "output": {"entities": {"gene": [{"text": "PMI", "start": 79, "end": 82}], "disease": [{"text": "CDG-Ib", "start": 119, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMI", "start": 79, "end": 82}, "tail": {"text": "CDG-Ib", "start": 119, "end": 125}}]}}, "schema": []}
{"input": "Interestingly, white matter microglia from donors with peripheral inflammation displayed elevated CD45 levels and increased size and granularity, but were still distinct from macrophages.", "output": {"entities": {"gene": [{"text": "CD45", "start": 98, "end": 102}], "disease": [{"text": "inflammation", "start": 66, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-to-mesenchymal transition (EMT), an essential developmental program, is involved in tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 38, "end": 41}], "disease": [{"text": "tumor progression", "start": 95, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Most follicular lymphomas are associated with the t (14; 18) translocation that juxtaposes the bcl-2 gene located on chromosome 18 to the immunoglobulin gene locus located on chromosome 14.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 95, "end": 105}], "disease": [{"text": "translocation", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "RPMI 8226 multiple myeloma cells expressed P2X7 mRNA and protein, as well as P2X1, P2X4 and P2X5 mRNA.", "output": {"entities": {"gene": [{"text": "P2X4", "start": 83, "end": 87}], "disease": [{"text": "multiple myeloma", "start": 10, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Our results provide a molecular mechanism for the etiology of familial osteochondritis dissecans and show the importance of the aggrecan C-type lectin interactions for cartilage function in vivo.", "output": {"entities": {"gene": [{"text": "aggrecan", "start": 128, "end": 136}], "disease": [{"text": "familial osteochondritis dissecans", "start": 62, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "aggrecan", "start": 128, "end": 136}, "tail": {"text": "familial osteochondritis dissecans", "start": 62, "end": 96}}]}}, "schema": []}
{"input": "We conclude that PFM caused by mutations in ALX4 and MSX2 have a similar prevalence and are usually clinically indistinguishable.", "output": {"entities": {"gene": [{"text": "ALX4", "start": 44, "end": 48}], "disease": [{"text": "PFM", "start": 17, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALX4", "start": 44, "end": 48}, "tail": {"text": "PFM", "start": 17, "end": 20}}]}}, "schema": []}
{"input": "A number of neuropsychiatric disorders including autism, schizophrenia, bipolar disorder, major depression, Alzheimer' s disease and lissencephaly share a common feature of abnormal Reelin expression in the brain.", "output": {"entities": {"gene": [{"text": "Reelin", "start": 182, "end": 188}], "disease": [{"text": "major depression", "start": 90, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Reelin", "start": 182, "end": 188}, "tail": {"text": "major depression", "start": 90, "end": 106}}]}}, "schema": []}
{"input": "Immunohistochemical analysis led to the following conclusions: (1) specific pattern of MAP2-positive tumor cells can be identified in 95% of glial neoplasms; (2) ependymal tumors do not express MAP2 in their rosette-forming cell component; (3) tumors of the pineal gland as well as malignant embryonic tumors are also characterized by abundant MAP2 immunoreactivity; (4) virtually no MAP2 expression can be observed in the neoplastic glial component of glio-neuronal tumors, i. e.", "output": {"entities": {"gene": [{"text": "MAP2", "start": 87, "end": 91}], "disease": [{"text": "ependymal tumors", "start": 162, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We screened the untranslated 5' region of the TFPI gene for polymorphisms and investigated their possible involvement in arterial thrombosis.", "output": {"entities": {"gene": [{"text": "TFPI gene", "start": 46, "end": 55}], "disease": [{"text": "arterial thrombosis", "start": 121, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Patients with diabetes and hyperglycemia exhibited significantly less GPx4 enzyme and greater HNE-adducts in their hearts, compared with age-matched non-diabetic patients.", "output": {"entities": {"gene": [{"text": "GPx4", "start": 70, "end": 74}], "disease": [{"text": "hyperglycemia", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In major depression, strongest evidence of association was observed for a single nucleotide polymorphism in ABI3BP, with six loci also showing suggestive association.", "output": {"entities": {"gene": [{"text": "ABI3BP", "start": 108, "end": 114}], "disease": [{"text": "major depression", "start": 3, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABI3BP", "start": 108, "end": 114}, "tail": {"text": "major depression", "start": 3, "end": 19}}]}}, "schema": []}
{"input": "CONCLUSION: In male patients, the X-linked IGSF1 deficiency syndrome is characterized by CeH, hypoprolactinemia, delayed puberty, macro-orchidism, and increased body weight.", "output": {"entities": {"gene": [{"text": "IGSF1", "start": 43, "end": 48}], "disease": [{"text": "body weight", "start": 161, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Thus, most MDM mutations in SLURP1 affect either the expression, integrity, or stability of the protein, suggesting that a simple immunologic test could be used as a rapid screening procedure.", "output": {"entities": {"gene": [{"text": "SLURP1", "start": 28, "end": 34}], "disease": [{"text": "MDM", "start": 11, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLURP1", "start": 28, "end": 34}, "tail": {"text": "MDM", "start": 11, "end": 14}}]}}, "schema": []}
{"input": "Two days after global ischaemia CA1, CA3, dentate gyrus and cerebral cortex were obtained from sham-operated and I/R-injured 3-and 18-month-old Sprague-Dawley rats.", "output": {"entities": {"gene": [{"text": "CA3", "start": 37, "end": 40}], "disease": [{"text": "ischaemia", "start": 22, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Instead of accumulating a poorly degraded and aggregated mutant protein as seen in some myofibrillar and nemaline myopathies, VCP mutations disrupt its normal role in protein homeostasis resulting in the accumulation of ubiquitinated and aggregated proteins that are deleterious to skeletal muscle.", "output": {"entities": {"gene": [{"text": "VCP", "start": 126, "end": 129}], "disease": [{"text": "nemaline myopathies", "start": 105, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Oral glutamine challenge (OGC) was performed and MELD, Child-Pugh and the presence of esophageal varices were recorded.", "output": {"entities": {"gene": [{"text": "OGC", "start": 26, "end": 29}], "disease": [{"text": "esophageal varices", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Our patient underwent primary repair of OA/TEF malformations, which was later complicated by pneumonia and a recurrent TEF.", "output": {"entities": {"gene": [{"text": "TEF", "start": 43, "end": 46}], "disease": [{"text": "pneumonia", "start": 93, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Partial trisomy 6p: 46, XX,-10, der (10), t (6; 10) (p22; q26) pat and HLA localisation.", "output": {"entities": {"gene": [{"text": "p22", "start": 53, "end": 56}], "disease": [{"text": "pat", "start": 63, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Newborn rat pups were randomly exposed to normoxia or hyperoxia at 90% FiO2 and injected intraperitoneally with placebo or Mesd every other day for 14 d. On day 15, phosphorylation of LRP5/6 (pLRP5/6), expression of Wnt/β-catenin target genes, cyclin D1 and Wnt-induced signaling protein-1 (WISP-1), right-ventricular systolic pressure (RVSP), right-ventricular hypertrophy (RVH), pulmonary vascular remodeling, alveolarization, and vascularization were measured.", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 220, "end": 229}], "disease": [{"text": "vascular remodeling", "start": 391, "end": 410}]}, "relations": {}}, "schema": []}
{"input": "Glucagon relieves calcium channel blocker-induced hypotension in animal studies.", "output": {"entities": {"gene": [{"text": "Glucagon", "start": 0, "end": 8}], "disease": [{"text": "hypotension", "start": 50, "end": 61}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Glucagon", "start": 0, "end": 8}, "tail": {"text": "hypotension", "start": 50, "end": 61}}]}}, "schema": []}
{"input": "No evidence of involvement of MLH3 in MSI tumorigenesis was obtained.", "output": {"entities": {"gene": [{"text": "MLH3", "start": 30, "end": 34}], "disease": [{"text": "tumorigenesis", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The frequency of polymorphisms involving N-acetyltransferase 1 (NAT1), NAT2, cytochrome P450 1A1 (CYP1A1), CYP2D6, CYP2E1, glutathione S-transferase M1 (GSTM1), GSTT1 and apolipoprotein E were compared in 219 white adults with sporadic colorectal cancer and 200 white controls attending for blood donation at a blood bank.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 153, "end": 158}], "disease": [{"text": "sporadic", "start": 227, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Mammalian target of rapamycin (mTOR), a master regulator of proliferation, is activated in many of these tumors, possibly by mechanisms that are similar to some human fibrosis syndromes and/or by mutation of upstream tumor suppressor genes.", "output": {"entities": {"gene": [{"text": "Mammalian target of rapamycin", "start": 0, "end": 29}], "disease": [{"text": "fibrosis", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "CoCl2 induced hypoxia increased VEGF secretion, HIF-1α, and PDK4 expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 32, "end": 36}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The present results question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome and support the use of a molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphological anomaly even in the absence of a thyroid goiter.", "output": {"entities": {"gene": [{"text": "PDS", "start": 158, "end": 161}], "disease": [{"text": "Pendred syndrome", "start": 90, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDS", "start": 158, "end": 161}, "tail": {"text": "Pendred syndrome", "start": 90, "end": 106}}]}}, "schema": []}
{"input": "High risk, cancer affected Jewish Ashkenazi women, were genotyped for harboring germline mutations in the coding exons of both the RNF146 and ECHDC1 genes, using direct sequencing.", "output": {"entities": {"gene": [{"text": "ECHDC1", "start": 142, "end": 148}], "disease": [{"text": "cancer", "start": 11, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "This study tested for an association between SLC18A2 and ADRB1 and treatment outcome in 873 major depressive disorder patients treated with the antidepressant citalopram in the Sequenced Treatment Alternatives to Relieve Depression study.", "output": {"entities": {"gene": [{"text": "ADRB1", "start": 57, "end": 62}], "disease": [{"text": "Depression", "start": 221, "end": 231}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADRB1", "start": 57, "end": 62}, "tail": {"text": "Depression", "start": 221, "end": 231}}]}}, "schema": []}
{"input": "FBP1 was lowly expressed in 80% (8/10) human hepatocellular carcinoma, 66. 7% (6/9) liver cancer cell lines and 100% (6/6) colon cancer cell lines, but was higher in paired adjacent non-tumor tissues and immortalized normal cell lines, which was well correlated with its promoter methylation status.", "output": {"entities": {"gene": [{"text": "FBP1", "start": 0, "end": 4}], "disease": [{"text": "colon cancer", "start": 123, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FBP1", "start": 0, "end": 4}, "tail": {"text": "colon cancer", "start": 123, "end": 135}}]}}, "schema": []}
{"input": "This study illustrates that Plekhm1 is an essential protein for bone resorption, as loss-of-function mutations were found to underlie the osteopetrotic phenotype of the incisors absent rat as well as an intermediate type of human osteopetrosis.", "output": {"entities": {"gene": [{"text": "Plekhm1", "start": 28, "end": 35}], "disease": [{"text": "bone resorption", "start": 64, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The expression pattern of EMT markers in AD suggests that vimentin is a possible immunohistochemical predictor of tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 26, "end": 29}], "disease": [{"text": "tumor progression", "start": 114, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Hyperphagia, hyperinsulinemia, and hyperglycemia are unlikely to have contributed significantly to the enhancement of carcinogenesis in ZIP mice because similarly hyperphagic, hyperinsulinemic, and hyperglycemic ob/ob mice had normal susceptibility to carcinogenesis.", "output": {"entities": {"gene": [{"text": "ZIP", "start": 136, "end": 139}], "disease": [{"text": "hyperinsulinemia", "start": 13, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Evidence is thus provided for the upregulation of bronchial epithelial ICAM-1 expression by airway secretions in bronchiectasis and a specific role for TNF-alpha in the secretions.", "output": {"entities": {"gene": [{"text": "ICAM-1", "start": 71, "end": 77}], "disease": [{"text": "bronchiectasis", "start": 113, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ICAM-1", "start": 71, "end": 77}, "tail": {"text": "bronchiectasis", "start": 113, "end": 127}}]}}, "schema": []}
{"input": "Four additional families selected on the basis of a confirmed diagnosis of CDS also showed linkage to the NCIE2 locus.", "output": {"entities": {"gene": [{"text": "NCIE2", "start": 106, "end": 111}], "disease": [{"text": "CDS", "start": 75, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NCIE2", "start": 106, "end": 111}, "tail": {"text": "CDS", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "Knockdown of SOX17 increased foci formation in ESCC and normal esophageal cells.", "output": {"entities": {"gene": [{"text": "SOX17", "start": 13, "end": 18}], "disease": [{"text": "esophageal", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46, XX, der (17) t (5; 17) (p13. 1; p13. 3) mat chromosome complement.", "output": {"entities": {"gene": [{"text": "p13", "start": 405, "end": 408}], "disease": [{"text": "patent ductus arteriosus", "start": 257, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "In vivo GKT137831 inhibited hypoxia-induced increases in TGF-β1 and reductions in PPARγ expression and attenuated RVH and pulmonary artery wall thickness but not increases in RVSP or muscularization of small arterioles.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 82, "end": 87}], "disease": [{"text": "hypoxia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "When examining the relationship between Col1A1 genotype and bone mass, lumbar spine BMC was higher in individuals of genotype' Ss' or' ss' in the lowest birthweight tertile (P = 0. 02) after adjustment for age, sex and weight at baseline.", "output": {"entities": {"gene": [{"text": "Col1A1", "start": 40, "end": 46}], "disease": [{"text": "weight", "start": 158, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine whether SDHD plays a role in the development of sporadic NET.", "output": {"entities": {"gene": [{"text": "NET", "start": 80, "end": 83}], "disease": [{"text": "sporadic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We developed cell line LIS-3/SV40 from a primary myxoid liposarcoma with the t (12; 16) (q13; p11. 2) and trisomy 8.", "output": {"entities": {"gene": [{"text": "p11", "start": 94, "end": 97}], "disease": [{"text": "myxoid liposarcoma", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Moreover, none of the AGPAT6 variants showed association with measures of obesity (waist circumference and BMI), serum lipid concentrations, fasting or 2-h post-glucose load levels of plasma glucose and serum insulin, or estimated indices of insulin secretion or insulin sensitivity.", "output": {"entities": {"gene": [{"text": "AGPAT6", "start": 22, "end": 28}], "disease": [{"text": "waist circumference", "start": 83, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that an abnormal HIF-1 & #945; in the renal medulla may represent a novel mechanism mediating salt-sensitive hypertension in Dahl S rats and that induction of HIF-1 & #945; levels in the renal medulla could be a therapeutic approach for the treatment of salt-sensitive hypertension.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 39, "end": 44}], "disease": [{"text": "hypertension", "start": 131, "end": 143}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HIF-1", "start": 39, "end": 44}, "tail": {"text": "hypertension", "start": 131, "end": 143}}]}}, "schema": []}
{"input": "We present a mutation in the ribosomal protein Rpl27a gene (sooty foot ataxia mice), isolated through a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for p53 pathway defects, that shares striking phenotypic similarities with high p53 mouse models, including cerebellar ataxia, pancytopenia and epidermal hyperpigmentation.", "output": {"entities": {"gene": [{"text": "Rpl27a", "start": 47, "end": 53}], "disease": [{"text": "pancytopenia", "start": 289, "end": 301}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rpl27a", "start": 47, "end": 53}, "tail": {"text": "pancytopenia", "start": 289, "end": 301}}]}}, "schema": []}
{"input": "VEGF only partly reversed the effects of LDL on angiogenesis under conditions of normoxia and hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Novel mutation in GJB4 gene (connexin 30. 3) in a family with erythrokeratodermia variabilis.", "output": {"entities": {"gene": [{"text": "GJB4", "start": 18, "end": 22}], "disease": [{"text": "erythrokeratodermia variabilis", "start": 62, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJB4", "start": 18, "end": 22}, "tail": {"text": "erythrokeratodermia variabilis", "start": 62, "end": 92}}]}}, "schema": []}
{"input": "Here we apply the integrative genomics principles to interrogate relationships between structural features and gene expression patterns of disease-linked SNPs, microRNAs and mRNAs of protein-coding genes in association to phenotypes of 15 major human disorders, namely bipolar disease (BD); rheumatoid arthritis (RA); coronary artery disease (CAD); Crohn' s disease (CD); type 1 diabetes (T1D); type 2 diabetes (T2D); hypertension (HT); ankylosing spondylitis (AS); Graves' disease (autoimmune thyroid disease; AITD); multiple sclerosis (MS); breast cancer (BC); prostate cancer (PC); systemic lupus erythematosus (SLE); vitiligo-associated multiple autoimmune disease (VIT); and ulcerative colitis (UC).", "output": {"entities": {"gene": [{"text": "VIT", "start": 670, "end": 673}], "disease": [{"text": "prostate cancer", "start": 563, "end": 578}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of GNAO1 correlates with poor prognosis in patients with gastric cancer and plays a role in gastric cancer cell proliferation and apoptosis.", "output": {"entities": {"gene": [{"text": "GNAO1", "start": 18, "end": 23}], "disease": [{"text": "gastric cancer", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "UGT1A1 * 28 is associated with Gilbert' s syndrome, a deficiency in glucuronidation of bilirubin leading to mild hyperbilirubinemia, whereas UGT1A6 * 2 may result in low glucuronidation rates of several drugs.", "output": {"entities": {"gene": [{"text": "UGT1A6", "start": 141, "end": 147}], "disease": [{"text": "mild", "start": 108, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Prohibitin, however, could be a new potential marker for the synaptic pathology of schizophrenia and might be causally involved in the disease process.", "output": {"entities": {"gene": [{"text": "Prohibitin", "start": 0, "end": 10}], "disease": [{"text": "schizophrenia", "start": 83, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Prohibitin", "start": 0, "end": 10}, "tail": {"text": "schizophrenia", "start": 83, "end": 96}}]}}, "schema": []}
{"input": "Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities.", "output": {"entities": {"gene": [{"text": "ORC4", "start": 19, "end": 23}], "disease": [{"text": "Meier-Gorlin syndrome", "start": 122, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ORC4", "start": 19, "end": 23}, "tail": {"text": "Meier-Gorlin syndrome", "start": 122, "end": 143}}]}}, "schema": []}
{"input": "The occurrence of c. 14576G > A variant was evaluated in patients with intracranial major artery stenosis/occlusion (ICASO) without signs of MMD (non-MMD ICASO), as well as in patients with MMD and other cerebrovascular diseases as controls.", "output": {"entities": {"gene": [{"text": "MMD", "start": 141, "end": 144}], "disease": [{"text": "cerebrovascular diseases", "start": 204, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "For GHD patients, G/A or A/A genotype of the LEPR K109R SNP was associated with higher body weight, higher BMI, and higher weight velocity than patients with the G/G genotype before GH treatment, but not after GH treatment.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 45, "end": 49}], "disease": [{"text": "body weight", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The expression of two ER stress markers, ATF3 and CHOP, were also increased in macrophages of human TB granulomas when assayed by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 41, "end": 45}], "disease": [{"text": "granulomas", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We observed that tumor necrosis factor-alpha (TNF-alpha) and transforming growth factor-beta (TGF-beta), but not interleukin 1beta or hypoxia, stimulated Ang-1 gene expression in RSE This was confirmed at the protein level as media from TNF-alpha treated RSF resulted in increased autophosphorylation of Tie-2.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 94, "end": 102}], "disease": [{"text": "hypoxia", "start": 134, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Clinical and electrophysiological data have outlined a spectrum of similar yet distinct periodic paralyses, including potassium-sensitive (hyperkalemic periodic paralysis [HYPP]) and temperature-sensitive (paramyotonia congenita [PC]) forms.", "output": {"entities": {"gene": [{"text": "HYPP", "start": 172, "end": 176}], "disease": [{"text": "paramyotonia congenita", "start": 206, "end": 228}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HYPP", "start": 172, "end": 176}, "tail": {"text": "paramyotonia congenita", "start": 206, "end": 228}}]}}, "schema": []}
{"input": "Based on clinical data and two distinct animal models, we now report that YB-1 is also a major metastatic driver in high-risk sarcomas.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 74, "end": 78}], "disease": [{"text": "sarcomas", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The growth of AsPC-1/IL-21 tumors developed in SCID mice was also retarded compared with parent tumors and the growth retardation was abrogated by treatment with anti-asialo GM (1) antibody.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 21, "end": 26}], "disease": [{"text": "growth retardation", "start": 111, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "An oligonucleotide DNA microarray analysis of TaY cells revealed upregulation of genes encoding heat shock proteins (HSPA1A, STIP1, HSPA1B, and HSPCA), genes related to protein folding (CDC37 and ANAPC5), Fas-associated factor 1 (FAF1) and an oxidative stress-related gene, heme oxygenase-1 (HMOX-1), known to be a target gene of hypoxia-inducible gene-1 alpha (HIF-1 alpha).", "output": {"entities": {"gene": [{"text": "HSPA1A", "start": 117, "end": 123}], "disease": [{"text": "hypoxia", "start": 330, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "We have therefore screened the TERT gene for mutation by denaturing HPLC in 80 patients with inherited and acquired bone marrow failure (24 with dyskeratosis congenita, 36 with constitutional aplastic anemia, 13 with idiopathic aplastic anemia and 7 with other forms of bone marrow failure).", "output": {"entities": {"gene": [{"text": "TERT", "start": 31, "end": 35}], "disease": [{"text": "aplastic anemia", "start": 192, "end": 207}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TERT", "start": 31, "end": 35}, "tail": {"text": "aplastic anemia", "start": 192, "end": 207}}]}}, "schema": []}
{"input": "Somatic instability studies were also performed on gastric and thyroid tumours using this STR: no instability was detected in thyroid tumour tissues when compared with their normal counterpart but in gastric tumour tissues microsatellite instability (MSI) was detected in 9. 6% of the cases and loss of heterozygosity (LOH) also in 9. 6% of the cases studied.", "output": {"entities": {"gene": [{"text": "STR", "start": 90, "end": 93}], "disease": [{"text": "microsatellite instability", "start": 223, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "We studied the expression of programmed death ligand 1 (PD-L1), PD-L2, programmed death 1 (PD-1) and cytotoxic T lymphocyte-associated antigen 4 (CTLA4) mRNA in CD34 + cells from myelodysplastic syndrome (MDS), chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia (AML) patients (N = 124).", "output": {"entities": {"gene": [{"text": "PD-1", "start": 91, "end": 95}], "disease": [{"text": "chronic myelomonocytic leukemia", "start": 211, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "In this study we have carried out haplotype analysis at the beta-globin gene cluster and defined the beta-thalassaemia mutations in a large Sardinian family, ascertained through a proband with thalassaemia major, in which several members were carriers of a beta-thalassaemia allele characterized by microcytosis, hypochromia and normal Hb A2 levels (type 2 normal Hb A2 heterozygous beta-thalassemia).", "output": {"entities": {"gene": [{"text": "beta-globin", "start": 60, "end": 71}], "disease": [{"text": "hypochromia", "start": 313, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "PEDF expression was lower in normal uroepithelium than in papillary urothelial neoplasm of low malignant potential (PUNLMP) (P = 0. 000) and carcinoma (P = 0. 009) whilst IL-1α (P = 0. 000 and P = 0. 000 respectively) and IL-8 (P = 0. 000 and P = 0. 023 respectively) expression was higher in the same grouping.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 0, "end": 4}], "disease": [{"text": "carcinoma", "start": 141, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Finally, 123 subjects whose mean corpuscular volume was ≤ 80 fL and who had no iron deficiency anemia were tested by PCR and PCR-restriction fragment length polymorphism (RFLP) for α-and β-thalassemias, respectively, and tested by PCR-RFLP for the five known variations of the UGT1A1 gene.", "output": {"entities": {"gene": [{"text": "UGT1A1 gene", "start": 277, "end": 288}], "disease": [{"text": "iron deficiency anemia", "start": 79, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "This patient was previously assumed to be a carrier of haemophilia A due to her FVIII deficiency.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 80, "end": 85}], "disease": [{"text": "haemophilia A", "start": 55, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 80, "end": 85}, "tail": {"text": "haemophilia A", "start": 55, "end": 68}}]}}, "schema": []}
{"input": "The present study was designed to investigate the role of SIRT1 in the regulation of neointima formation and to elucidate the underlying mechanisms.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 58, "end": 63}], "disease": [{"text": "neointima formation", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In 1 case the diagnosis of cHL followed by lymphomatoid papulosis was confirmed, with Hodgkin/Reed-Sternberg cells expressing PAX5, CD30, and CD15.", "output": {"entities": {"gene": [{"text": "PAX5", "start": 126, "end": 130}], "disease": [{"text": "lymphomatoid papulosis", "start": 43, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Among gliomas with isocitrate dehydrogenase-1/R132H mutation, the frequencies of ALCAM + cells were significantly higher for glioblastomas than for World Health Organization grade II or III gliomas.", "output": {"entities": {"gene": [{"text": "ALCAM", "start": 81, "end": 86}], "disease": [{"text": "gliomas", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Gene expression of NLRP3, CASPASE-1, CD3 & #603; (pan T cells), TBX21 (T (h) 1 cells) and RORC (T (h) 17 cells) was positively, whereas GATA3 (T (h) 2 cells) was inversely correlated with AT inflammation.", "output": {"entities": {"gene": [{"text": "CASPASE-1", "start": 26, "end": 35}], "disease": [{"text": "inflammation", "start": 191, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CASPASE-1", "start": 26, "end": 35}, "tail": {"text": "inflammation", "start": 191, "end": 203}}]}}, "schema": []}
{"input": "A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.", "output": {"entities": {"gene": [{"text": "CEP55", "start": 25, "end": 30}], "disease": [{"text": "MARCH", "start": 54, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CEP55", "start": 25, "end": 30}, "tail": {"text": "MARCH", "start": 54, "end": 59}}]}}, "schema": []}
{"input": "Finally, MG-63 cells expressing PTTG showed signs of aneuploidy including the presence of micronuclei and multiple nuclei.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 32, "end": 36}], "disease": [{"text": "aneuploidy", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, we observed that PEITC suppressed the HIF-1α accumulation during hypoxia in human glioma U87, human prostate cancer DU145, colon cancer HCT116, liver cancer HepG2, and breast cancer SkBr3 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 103, "end": 106}], "disease": [{"text": "glioma", "start": 96, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We use a bioluminescence imaging (BLI) platform to analyze the behavior of bioluminescent hAMSCs expressing HSV-tTK in a U87 glioma model and gain insight into the therapeutic mechanisms.", "output": {"entities": {"gene": [{"text": "U87", "start": 121, "end": 124}], "disease": [{"text": "glioma", "start": 125, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "To characterize the pattern and frequency of MCM5 expression in proliferative and malignant skin diseases in comparison with those of proliferating cell nuclear antigen (PCNA).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 170, "end": 174}], "disease": [{"text": "skin diseases", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "This study shows that in diabetes, the increased expression of AQP2 and UT-A1 in medullary collecting duct is consistent with an improved concentrating activity.", "output": {"entities": {"gene": [{"text": "AQP2", "start": 63, "end": 67}], "disease": [{"text": "diabetes", "start": 25, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) is a potent endothelial cell mitogen that has been shown to be increased in hypoxic lung.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxic", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "In comparison with the low frequencies of RADs in the general population (about 0. 83%, including systemic lupus erythematosus, 0. 03%; dermatomyositis, 0. 04%; juvenile rheumatoid arthritis, 0. 03%; ankylosing spondylitis, 0. 01%; rheumatoid arthritis, 0. 62%; and other RAD, 0. 1%), there were surprisingly high frequencies of such disorders in this small group of patients with untreated hypogonadism (P < 0. 001) and very low serum testosterone levels (P = 0. 0005).", "output": {"entities": {"gene": [{"text": "RAD", "start": 42, "end": 45}], "disease": [{"text": "juvenile rheumatoid arthritis", "start": 161, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "HIF-1α mediated the hypoxia-induced up-regulation of TF expression through vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 111, "end": 115}], "disease": [{"text": "hypoxia", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that Bcl-2 protein augmentation with adenovirus vector mediated bcl-2 (Adv-bcl-2) gene transfer may improve ischemia/reperfusion induced renal proximal and distal tubular apoptosis through the mitochondrial control of Bax and cytochrome C translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 79, "end": 84}], "disease": [{"text": "translocation", "start": 254, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Thus, CD69 would be a possible therapeutic target for arthritis in human patients.", "output": {"entities": {"gene": [{"text": "CD69", "start": 6, "end": 10}], "disease": [{"text": "arthritis", "start": 54, "end": 63}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CD69", "start": 6, "end": 10}, "tail": {"text": "arthritis", "start": 54, "end": 63}}]}}, "schema": []}
{"input": "Elevated serum RBP4 was associated with components of the metabolic syndrome, including increased body-mass index, waist-to-hip ratio, serum triglyceride levels, and systolic blood pressure and decreased high-density lipoprotein cholesterol levels.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 15, "end": 19}], "disease": [{"text": "waist-to-hip ratio", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "), ARF was evident by the: (i) decrease in creatinine clearance and increase in blood urea nitrogen, (ii) decrease in blood glutathione peroxidase (GPx) activity and increase in urinary excretion of N-acetyl-beta-D-glucosaminidase and total protein, and (iii) necrosis of proximal tubular cells.", "output": {"entities": {"gene": [{"text": "ARF", "start": 3, "end": 6}], "disease": [{"text": "necrosis", "start": 260, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "However, its confounding with sex and smoking makes it unclear whether the EGFR mutation is independently associated with prolonged patient survival.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 75, "end": 79}], "disease": [{"text": "smoking", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The analyses were based on MRI (n = 655) and mammography (n = 607) images obtained in the course of the UK multicentre magnetic resonance imaging breast screening (MARIBS) study of asymptomatic women aged 31 to 49 years who were at high genetic risk of breast cancer.", "output": {"entities": {"gene": [{"text": "MRI", "start": 27, "end": 30}], "disease": [{"text": "breast cancer", "start": 253, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Indeed, induction of autophagy was revealed by cytoplasmic accumulation of autophagic vacuoles and by an increase in both LC3 (MAP1LC3A) protein conversion and the amount of acidic autophagic vacuoles.", "output": {"entities": {"gene": [{"text": "MAP1LC3A", "start": 127, "end": 135}], "disease": [{"text": "autophagic vacuoles", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Further analysis of squamous intraepithelial lesions (SIL) with (n = 12) or without (n = 4) MI for the (A) 10 change, a prototypic mutation found in over 90% of RER-positive colon cancers, also showed no aberration.", "output": {"entities": {"gene": [{"text": "RER", "start": 161, "end": 164}], "disease": [{"text": "squamous intraepithelial lesions", "start": 20, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "A 3. 5 y-old girl carrying a severe mutation of the LDL-receptor gene known as \" FH Pavia \", affected by homozygous familial hypercholesterolaemia (FH), and at high risk of developing coronary artery atherosclerosis was treated with selective dextran sulphate cellulose (DSC) column low-density lipoprotein apheresis (LDL-a).", "output": {"entities": {"gene": [{"text": "DSC", "start": 271, "end": 274}], "disease": [{"text": "familial hypercholesterolaemia", "start": 116, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The absence of typical phenotypes in this case such as palmar/plantar pits, macrocephaly, falx calcification, hypertelorism and coarse face, together with previously reported cases, suggested that individuals with NBCCS carrying a PTCH2 mutation may have a milder phenotype than those with a PTCH1 mutation.", "output": {"entities": {"gene": [{"text": "PTCH2", "start": 231, "end": 236}], "disease": [{"text": "NBCCS", "start": 214, "end": 219}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTCH2", "start": 231, "end": 236}, "tail": {"text": "NBCCS", "start": 214, "end": 219}}]}}, "schema": []}
{"input": "We found genes involved in integrin signaling (TLN1), survival (YAP1, BIRC2), and adhesion and migration (TLN1, LAMA3, MMP7), as well as members of the hedgehog (GLI2) and notch (JAG1, RBPSUH, FJX1) pathways to be amplified and overexpressed.", "output": {"entities": {"gene": [{"text": "GLI2", "start": 162, "end": 166}], "disease": [{"text": "adhesion", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The 12 carriers of XLRP had a spectrum of fundus abnormalities and varying severity of functional impairment as derived from visual field areas and ERG amplitudes.", "output": {"entities": {"gene": [{"text": "ERG", "start": 148, "end": 151}], "disease": [{"text": "abnormalities", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We first determined that hypoxia induces the expression of HIF-1α and GPER in CAFs, then we ascertained that the HIF-1α/GPER signaling is involved in the regulation of VEGF expression in breast cancer cells and in CAFs exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 168, "end": 172}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We found that c-Myc could bind to an E box in the human cad promoter in gel shift assays and that growth regulated transcription from the human cad promoter was dependent on this c-Myc binding site.", "output": {"entities": {"gene": [{"text": "c-Myc", "start": 14, "end": 19}], "disease": [{"text": "cad", "start": 56, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We hypothesised that alleles related to higher pro-inflammatory and/or lower anti-inflammatory cytokine production would be associated with post-stroke depression (PSD).", "output": {"entities": {"gene": [{"text": "PSD", "start": 164, "end": 167}], "disease": [{"text": "stroke", "start": 145, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "B-cell depletion prevented or reversed established rMOG-induced EAE, which was associated with less central nervous system (CNS) inflammation, elimination of meningeal B cells, and reduction of MOG-specific Th1 and Th17 cells.", "output": {"entities": {"gene": [{"text": "MOG", "start": 52, "end": 55}], "disease": [{"text": "inflammation", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Here we used immunohistochemistry to analyze the expression of SOX2 in human prostate tissues and found it contributed to tumorigenesis and correlated with histologic grade and Gleason score.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 63, "end": 67}], "disease": [{"text": "tumorigenesis", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The IL-33/ST2 axis is associated with human visceral leishmaniasis and suppresses Th1 responses in the livers of BALB/c mice infected with Leishmania donovani.", "output": {"entities": {"gene": [{"text": "ST2", "start": 10, "end": 13}], "disease": [{"text": "visceral leishmaniasis", "start": 44, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We then found that PAP knockout mice have normal acute pain sensitivity but enhanced sensitivity in chronic inflammatory and neuropathic pain models.", "output": {"entities": {"gene": [{"text": "PAP", "start": 19, "end": 22}], "disease": [{"text": "acute pain", "start": 49, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "In line, mutant mice overexpressing Hand2 in otherwise healthy heart muscle cells developed a phenotype of pathological hypertrophy.", "output": {"entities": {"gene": [{"text": "Hand2", "start": 36, "end": 41}], "disease": [{"text": "hypertrophy", "start": 120, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Loss of Fat4 disrupts oriented cell divisions and tubule elongation during kidney development, leading to cystic kidney disease.", "output": {"entities": {"gene": [{"text": "Fat4", "start": 8, "end": 12}], "disease": [{"text": "cystic kidney disease", "start": 106, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Fat4", "start": 8, "end": 12}, "tail": {"text": "cystic kidney disease", "start": 106, "end": 127}}]}}, "schema": []}
{"input": "Particularly netrin-1 has been implicated in dampening hypoxia-induced inflammation.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 13, "end": 21}], "disease": [{"text": "hypoxia", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We also examined the role of SRF in colorectal carcinoma by overexpression of SRF in a colon cancer cell line.", "output": {"entities": {"gene": [{"text": "SRF", "start": 29, "end": 32}], "disease": [{"text": "colorectal carcinoma", "start": 36, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We have hypothesized that the extracellular matrix protein reelin is involved in the pathogenesis of major depression.", "output": {"entities": {"gene": [{"text": "reelin", "start": 59, "end": 65}], "disease": [{"text": "major depression", "start": 101, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "reelin", "start": 59, "end": 65}, "tail": {"text": "major depression", "start": 101, "end": 117}}]}}, "schema": []}
{"input": "Aberrant expression of the human hyaluronan synthase 2 (HAS2) gene has been implicated in the pathology of malignancy, pulmonary arterial hypertension, osteoarthritis, asthma, thyroid dysfunction, and large organ fibrosis.", "output": {"entities": {"gene": [{"text": "HAS2", "start": 56, "end": 60}], "disease": [{"text": "fibrosis", "start": 213, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "To explore the effects and mechanisms of miR-106a on multidrug resistance reversal in human glioma cells, we silenced miR-106a expression in the cisplatin-resistant U87 (U87/DDP) and the gefitinib-resistant U251 (U251/G) glioma cell lines and measured the resulting drug sensitivity, cell apoptosis rate and rhodamine 123 content.", "output": {"entities": {"gene": [{"text": "U87", "start": 165, "end": 168}], "disease": [{"text": "glioma", "start": 92, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The exclusion criteria for mutation screening of the FSH receptor gene were: a history of operative sterilization or testicular malignancy, congenital abnormality other than cryptorchidism, and a chromosomal aberration or a Y-chromosome microdeletion.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 53, "end": 65}], "disease": [{"text": "congenital abnormality", "start": 140, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "VEGF is particulary upregulated in palisading cells adjacent to necroses and has subsequently been shown to be hypoxia-inducible in glioma cells in vitro.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The pigmentary retinopathy and neuropathy of abetalipoproteinemia (Mendelian Inheritance of Man 200100; Bassen-Kornzwieg disease), which is caused by mutations in the MTP gene, may involve loss of function at the retina.", "output": {"entities": {"gene": [{"text": "MTP", "start": 167, "end": 170}], "disease": [{"text": "neuropathy", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Our clinical and in vitro data suggest that HMGB2 plays a significant role in tumor development and prognosis of HCC.", "output": {"entities": {"gene": [{"text": "HMGB2", "start": 44, "end": 49}], "disease": [{"text": "HCC", "start": 113, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGB2", "start": 44, "end": 49}, "tail": {"text": "HCC", "start": 113, "end": 116}}]}}, "schema": []}
{"input": "Using flow cytometry, immunohistochemistry, and RT-PCR, we elucidated the characteristics of nasal mucosal gamma delta T cells in patients with perennial allergic rhinitis (PAR), chronic infective rhinitis (CIR), and seasonal allergic rhinitis (SAR) and in normal subjects.", "output": {"entities": {"gene": [{"text": "CIR", "start": 207, "end": 210}], "disease": [{"text": "seasonal allergic rhinitis", "start": 217, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "However, few studies have shown the expression of GCS in invasive ductal breast cancer and breast intraductal proliferative lesions.", "output": {"entities": {"gene": [{"text": "GCS", "start": 50, "end": 53}], "disease": [{"text": "invasive ductal breast cancer", "start": 57, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The difference in methylation frequencies between exposures and controls was statistically significant (p = 0. 002), and individuals with methylated ALAD gene showed an increased risk of lead poisoning (adjusted OR = 3. 57, 95% CI, 1. 55-8. 18).", "output": {"entities": {"gene": [{"text": "ALAD", "start": 149, "end": 153}], "disease": [{"text": "lead poisoning", "start": 187, "end": 201}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALAD", "start": 149, "end": 153}, "tail": {"text": "lead poisoning", "start": 187, "end": 201}}]}}, "schema": []}
{"input": "Classification and regression tree analysis revealed EGFR mutation to be the primary factor for identifying homogeneous patient subgroups in terms of PFS.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 53, "end": 57}], "disease": [{"text": "regression", "start": 19, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "In this study we demonstrate that, surprisingly, animals lacking enkephalin (preproenkephalin, Penk1 (-/-)) showed no depression-related phenotype in the Porsolt forced swimming or tail suspension tests.", "output": {"entities": {"gene": [{"text": "preproenkephalin", "start": 77, "end": 93}], "disease": [{"text": "depression", "start": 118, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "preproenkephalin", "start": 77, "end": 93}, "tail": {"text": "depression", "start": 118, "end": 128}}]}}, "schema": []}
{"input": "Recently, polymorphisms of the closely related NOD2 have been associated with atopy-related traits.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 47, "end": 51}], "disease": [{"text": "atopy", "start": 78, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Common genetic origins for EEG, alcoholism and anxiety: the role of CRH-BP.", "output": {"entities": {"gene": [{"text": "CRH-BP", "start": 68, "end": 74}], "disease": [{"text": "alcoholism", "start": 32, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRH-BP", "start": 68, "end": 74}, "tail": {"text": "alcoholism", "start": 32, "end": 42}}]}}, "schema": []}
{"input": "We conclude filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations.", "output": {"entities": {"gene": [{"text": "filamin A", "start": 161, "end": 170}], "disease": [{"text": "distal myopathy", "start": 57, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In this study, we report identification of a novel heterozygous deletion in the EVC2 that is responsible for autosomal dominant Weyers acrofacial dysostosis in a large Chinese family.", "output": {"entities": {"gene": [{"text": "EVC2", "start": 80, "end": 84}], "disease": [{"text": "Weyers acrofacial dysostosis", "start": 128, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EVC2", "start": 80, "end": 84}, "tail": {"text": "Weyers acrofacial dysostosis", "start": 128, "end": 156}}]}}, "schema": []}
{"input": "Involvement of peroxisome proliferator-activated receptor gamma in vitamin D-mediated protection against acute kidney injury in rats.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor gamma", "start": 15, "end": 63}], "disease": [{"text": "acute kidney injury", "start": 105, "end": 124}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "peroxisome proliferator-activated receptor gamma", "start": 15, "end": 63}, "tail": {"text": "acute kidney injury", "start": 105, "end": 124}}]}}, "schema": []}
{"input": "We have compared expression of MUC1, MUC3, MUC4, MUC11, MUC12 and MUC13 mRNA in epithelial cancers and/or cell lines with non-malignant tissues.", "output": {"entities": {"gene": [{"text": "MUC12", "start": 56, "end": 61}], "disease": [{"text": "cancers", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The polymorphisms were genotyped in 589 individuals to form samples for Transmission Disequilibrium Test (TDT) analysis (176 unrelated probands, 145 with both parents and 30 with one parent genotyped), linkage analysis (49 families with 54 independent affected sib pairs [ASPs]), and case-control analyses (67 familial cases with a first-degree SZ relative, 101 sporadic cases with no affected first-or second-degree relative, and 90 control cases).", "output": {"entities": {"gene": [{"text": "TDT", "start": 106, "end": 109}], "disease": [{"text": "sporadic", "start": 362, "end": 370}]}, "relations": {}}, "schema": []}
{"input": "Hemoglobin, erythrocyte indices (mean erythrocyte volume and red blood cell distribution width), serum levels of iron, transferrin and ferritin, platelet aggregation tests (with ADP, collagen, and ristocetin), PFA-100 closure time, and CD62P expression were evaluated in fasting blood samples of 22 children with IDA and 20 children without anemia.", "output": {"entities": {"gene": [{"text": "PFA", "start": 210, "end": 213}], "disease": [{"text": "anemia", "start": 341, "end": 347}]}, "relations": {}}, "schema": []}
{"input": "We identified four mutations (A334V, 614delA, 683insG [corrected], 727insG) in a group of 39 unrelated Black OCA2 patients with a total of 52 non-2. 7 kb deletion OCA2 genes.", "output": {"entities": {"gene": [{"text": "OCA2", "start": 109, "end": 113}], "disease": [{"text": "OCA2", "start": 163, "end": 167}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCA2", "start": 109, "end": 113}, "tail": {"text": "OCA2", "start": 163, "end": 167}}]}}, "schema": []}
{"input": "In this study, comprehensive mutation screening through next-generation sequencing identified a novel TUBB3 mutation (p. Ser230Leu) in a sporadic patient with moderate developmental delay associated with mild MCD.", "output": {"entities": {"gene": [{"text": "TUBB3", "start": 102, "end": 107}], "disease": [{"text": "mild", "start": 204, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease with an unknown etiology.", "output": {"entities": {"gene": [{"text": "MMD", "start": 18, "end": 21}], "disease": [{"text": "cerebrovascular disease", "start": 47, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we found that a series of human colon cancer cell lines displayed various levels of expression of HINT1, with a very low level in SW480 cells.", "output": {"entities": {"gene": [{"text": "HINT1", "start": 120, "end": 125}], "disease": [{"text": "colon cancer", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "ESRD patients with SHP, usually associated with more severe anemia show resistance to rhEPO.", "output": {"entities": {"gene": [{"text": "SHP", "start": 19, "end": 22}], "disease": [{"text": "severe anemia", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In prostate cancer CWR22-Rv1 and PC3 cell lines, which showed distinct δ-catenin overexpression, E2F1 and Hes1 expression pattern was altered.", "output": {"entities": {"gene": [{"text": "Hes1", "start": 106, "end": 110}], "disease": [{"text": "prostate cancer", "start": 3, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Genetic defects in ISBT may result in malabsorption of bile acids and a loss of bile acids into the large intestine, with a resultant increase in the cytotoxic secondary bile acids in the colon.", "output": {"entities": {"gene": [{"text": "ISBT", "start": 19, "end": 23}], "disease": [{"text": "secondary", "start": 160, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.", "output": {"entities": {"gene": [{"text": "prolidase", "start": 34, "end": 43}], "disease": [{"text": "prolidase deficiency", "start": 108, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "prolidase", "start": 34, "end": 43}, "tail": {"text": "prolidase deficiency", "start": 108, "end": 128}}]}}, "schema": []}
{"input": "These findings indicate that NOS1AP, a gene first identified as affecting the QTc interval in a general population, also influences sudden death risk in subjects with LQTS.", "output": {"entities": {"gene": [{"text": "NOS1AP", "start": 29, "end": 35}], "disease": [{"text": "sudden death", "start": 132, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of pancreatitis-associated protein (PAP) in human pancreatic ductal adenocarcinoma.", "output": {"entities": {"gene": [{"text": "PAP", "start": 51, "end": 54}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 65, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy.", "output": {"entities": {"gene": [{"text": "Epitempin", "start": 28, "end": 37}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "CNE cells with high VEGF expression induced by hypoxia were transfected with VEGF-specific siRNAs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 20, "end": 24}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the bromocriptine-induced hypotension was fully abolished by i. v. pretreatment with metoclopramide (300 micrograms/kg), a dopamine D2 receptor antagonist that crosses the blood-brain barrier, or by combined pretreatment with i. v. and i. t. domperidone.", "output": {"entities": {"gene": [{"text": "dopamine D2 receptor", "start": 136, "end": 156}], "disease": [{"text": "hypotension", "start": 39, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dopamine D2 receptor", "start": 136, "end": 156}, "tail": {"text": "hypotension", "start": 39, "end": 50}}]}}, "schema": []}
{"input": "Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila produced shortened or absent cilia.", "output": {"entities": {"gene": [{"text": "ift80", "start": 13, "end": 18}], "disease": [{"text": "cystic kidneys", "start": 44, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ift80", "start": 13, "end": 18}, "tail": {"text": "cystic kidneys", "start": 44, "end": 58}}]}}, "schema": []}
{"input": "Interestingly, the JMJD1A and ADM expressions were enhanced by hypoxia only in HepG2 and Hep3B cells.", "output": {"entities": {"gene": [{"text": "ADM", "start": 30, "end": 33}], "disease": [{"text": "hypoxia", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We also showed that knockdown of MTDH cannot only increase expression of FOXO3a but also activate it by promoting its translocation via MTDH/ERK1/2/FOXO3a pathway rather than MTDH/AKT/FOXO3a pathway.", "output": {"entities": {"gene": [{"text": "AKT", "start": 180, "end": 183}], "disease": [{"text": "translocation", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "We reported previously that vascular endothelial growth factor isoform A (VEGF-A) expression by Mel57 human melanoma cells led to tumor progression in a murine brain metastasis model in an angiogenesis-independent fashion by dilation of co-opted, pre-existing vessels and concomitant enhanced blood supply (B. Kusters et al., Cancer Res., 62: 341-345, 2002).", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 74, "end": 80}], "disease": [{"text": "dilation", "start": 225, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Together, these findings suggest that the DACT1 c. 1256G & gt; A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes-Brocks syndrome.", "output": {"entities": {"gene": [{"text": "DACT1", "start": 42, "end": 47}], "disease": [{"text": "Townes-Brocks syndrome", "start": 152, "end": 174}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DACT1", "start": 42, "end": 47}, "tail": {"text": "Townes-Brocks syndrome", "start": 152, "end": 174}}]}}, "schema": []}
{"input": "We have identified a novel mutation in the pendrin gene causing Pendred' s syndrome, and confirm that molecular analysis is a useful tool for a definitive diagnosis.", "output": {"entities": {"gene": [{"text": "pendrin", "start": 43, "end": 50}], "disease": [{"text": "Pendred' s syndrome", "start": 64, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "pendrin", "start": 43, "end": 50}, "tail": {"text": "Pendred' s syndrome", "start": 64, "end": 83}}]}}, "schema": []}
{"input": "Cyclin A expression in human hematological malignancies: a new marker of cell proliferation.", "output": {"entities": {"gene": [{"text": "Cyclin A", "start": 0, "end": 8}], "disease": [{"text": "hematological malignancies", "start": 29, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Ph + ALL patients with chromosome breaks which occur within the major breakpoint cluster region (M-BCR rearranged Ph + ALL) were treated with natural interferon-alpha (IFN-alpha) after entering complete remission.", "output": {"entities": {"gene": [{"text": "BCR", "start": 99, "end": 102}], "disease": [{"text": "chromosome breaks", "start": 23, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Microenvironmental interleukin-6 suppresses toll-like receptor signaling in human leukemia cells through miR-17/19A.", "output": {"entities": {"gene": [{"text": "19A", "start": 112, "end": 115}], "disease": [{"text": "leukemia", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Indeed, recent data have suggested that CYP3A5 and ABCB1 gene polymorphisms are associated with blood pressure in the rat as well as in humans.", "output": {"entities": {"gene": [{"text": "ABCB1 gene", "start": 51, "end": 61}], "disease": [{"text": "blood pressure", "start": 96, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Presence of the LH or MM haplotype (hazard ratio, 3. 36; 95% confidence interval, 1. 16-9. 69), gender (0. 13; 0. 02-0. 67), and post-bronchodilator FEV1 value of predicted (0. 95; 0. 91-0. 99) are significant predictors of respiratory failure development. The haplotype of the Nrf2 gene promoter affects its activity, and is associated with the severity and the development of respiratory failure in COPD.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 278, "end": 282}], "disease": [{"text": "respiratory failure", "start": 224, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "The introduction of siRNA against PKCalpha into SAS cells resulted in an increase of Bim, a decrease of Bcl-xL, the translocation of endonuclease G, and a decrease in the phosphorylation of FAK.", "output": {"entities": {"gene": [{"text": "FAK", "start": 190, "end": 193}], "disease": [{"text": "translocation", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The present study examined the prodynorphin and kappa opioid receptor mRNA expression levels in the anterior cingulate and dorsolateral prefrontal cortices of subjects diagnosed with schizophrenia, bipolar disorder, or major depression as compared with normal controls without a psychiatric diagnosis.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 31, "end": 43}], "disease": [{"text": "major depression", "start": 219, "end": 235}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 31, "end": 43}, "tail": {"text": "major depression", "start": 219, "end": 235}}]}}, "schema": []}
{"input": "The late induced p53 by 7-oxysterols contributes to apoptotic cell death and is linked to the reduction of Egr1 levels, which resembles the differential expression of p53 and Egr1 in human atheroma progression.", "output": {"entities": {"gene": [{"text": "Egr1", "start": 107, "end": 111}], "disease": [{"text": "atheroma", "start": 189, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "The AML1-ETO fusion transcription factor is generated by the t (8; 21) translocation, which is present in approximately 4%-12% of adult and 12%-30% of pediatric acute myeloid leukemia (AML) patients.", "output": {"entities": {"gene": [{"text": "AML1", "start": 4, "end": 8}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Increased adhesion potency of ovarian carcinoma cells to mesothelial cells by overexpression of dipeptidyl peptidase IV.", "output": {"entities": {"gene": [{"text": "dipeptidyl peptidase IV", "start": 96, "end": 119}], "disease": [{"text": "adhesion", "start": 10, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Signalling pathways in bradykinin-and nitric oxide-induced hypotension in the normotensive rat; role of K +-channels.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 23, "end": 33}], "disease": [{"text": "hypotension", "start": 59, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 23, "end": 33}, "tail": {"text": "hypotension", "start": 59, "end": 70}}]}}, "schema": []}
{"input": "In the present work we have evaluated the expression of many pro-inflammatory TNF system cytokines (TNF-alpha, TWEAK and their respective receptors, TNFR1, TNFR2 and Fn14) in human adipose tissue of 84 subjects some with different degree of obesity and type 2 diabetes, and its relation with inflammation by also measuring the expression of macrophage marker CD68.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 156, "end": 161}], "disease": [{"text": "inflammation", "start": 292, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "To study the role of eNOS in the control of the metabolic action of insulin, we assessed insulin sensitivity in conscious mice with disruption of the gene encoding for eNOS. eNOS (-/-) mice were hypertensive and had fasting hyperinsulinemia, hyperlipidemia, and a 40% lower insulin-stimulated glucose uptake than control mice.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 21, "end": 25}], "disease": [{"text": "insulin sensitivity", "start": 89, "end": 108}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "eNOS", "start": 21, "end": 25}, "tail": {"text": "insulin sensitivity", "start": 89, "end": 108}}]}}, "schema": []}
{"input": "Human Polynucleotide Phosphorylase (hPNPase (old-35) or PNPT1) is an evolutionarily conserved 3' → 5' exoribonuclease implicated in the regulation of numerous physiological processes including maintenance of mitochondrial homeostasis, mtRNA import and aging-associated inflammation.", "output": {"entities": {"gene": [{"text": "PNPT1", "start": 56, "end": 61}], "disease": [{"text": "inflammation", "start": 269, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "We assessed mutations of the NF2, LATS1, and LATS2 genes, promoter methylation of LATS1 and LATS2, and expression of YAP and phosphorylated YAP in 82 cases of sporadic schwannomas.", "output": {"entities": {"gene": [{"text": "LATS2", "start": 45, "end": 50}], "disease": [{"text": "sporadic", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Ectopic expression of miR-124 inhibited IL-6-mediated cholangiocyte proliferation in vitro and cholangiocyte hyperplasia in vivo, through a mechanism involving direct targeting of the 3'-untranslated region of STAT3 and IL-6R.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 40, "end": 44}], "disease": [{"text": "hyperplasia", "start": 109, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "MCP-1 is believed to play an important role in monocyte infiltration into tumor tissues; however, the relationship between tumor-infiltrating macrophage/microglia (TIM/M) and the expression of chemokines has not been investigated in detail in human glioma samples; therefore, we first examined the expression of several chemokines and chemokine receptors in human tumor cell lines, which included glioma lines, using real-time PCR.", "output": {"entities": {"gene": [{"text": "TIM", "start": 164, "end": 167}], "disease": [{"text": "glioma", "start": 249, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "The APOE epsilon4 allele conferred increased risk for dementia (OR = 1. 5, 95% CI = 1. 1 to 2. 2) compared to epsilon3 in the MRC CFAS sample.", "output": {"entities": {"gene": [{"text": "MRC", "start": 126, "end": 129}], "disease": [{"text": "dementia", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma.", "output": {"entities": {"gene": [{"text": "TBX2", "start": 210, "end": 214}], "disease": [{"text": "neuroblastoma", "start": 326, "end": 339}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TBX2", "start": 210, "end": 214}, "tail": {"text": "neuroblastoma", "start": 326, "end": 339}}]}}, "schema": []}
{"input": "The results of the present study provide evidence on global changes in STAT gene expression in the hippocampus of rats after focal cerebral ischaemia and reperfusion, in which STAT2, 5a, 5b, 6 and SOCS4 were confirmed to be significantly modulated during focal cerebral ischaemia.", "output": {"entities": {"gene": [{"text": "STAT2", "start": 176, "end": 181}], "disease": [{"text": "cerebral ischaemia", "start": 131, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Muscle atrophy induced by dexamethasone (dexa) administration occurred with a decrease in Akt (-53%; P & lt; 0. 01) phosphorylation together with a decrease in beta-catenin protein levels (-40%; P & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 160, "end": 172}], "disease": [{"text": "Muscle atrophy", "start": 0, "end": 14}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "beta-catenin", "start": 160, "end": 172}, "tail": {"text": "Muscle atrophy", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "These animal models and cells isolated from them will be useful for further validation of PARG as a potential pharmaceutical target to intervene the pathogenesis induced by acute tissue injury, ischemia and inflammation.", "output": {"entities": {"gene": [{"text": "PARG", "start": 90, "end": 94}], "disease": [{"text": "ischemia", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "The association with major depression, suicide, and panic disorder of a new functional 5-HT1A polymorphism at C (-1019) G that selectively blocks repression of the 5-HT1A autoreceptor by NUDR further suggests a causative role for altered regulation of this receptor in predisposition to mental illness.", "output": {"entities": {"gene": [{"text": "NUDR", "start": 187, "end": 191}], "disease": [{"text": "major depression", "start": 21, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NUDR", "start": 187, "end": 191}, "tail": {"text": "major depression", "start": 21, "end": 37}}]}}, "schema": []}
{"input": "Effects of the CB1/CB2 receptor agonist WIN55, 212-2, the receptor-inactive enantiomer WIN55, 212-3, the CB2-selective agonist (R, S)-AM1241, the opiate agonist morphine and vehicle on chemotherapy-induced neuropathy were evaluated.", "output": {"entities": {"gene": [{"text": "CB2", "start": 19, "end": 22}], "disease": [{"text": "neuropathy", "start": 206, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate.", "output": {"entities": {"gene": [{"text": "MSX1", "start": 0, "end": 4}], "disease": [{"text": "cleft lip", "start": 93, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSX1", "start": 0, "end": 4}, "tail": {"text": "cleft lip", "start": 93, "end": 102}}]}}, "schema": []}
{"input": "Together, these findings reveal that the canonical Wnt and PI3K/Akt signal pathways restrain the GSK3/Fbw7-dependent Eya1 ubiquitination, and they further suggest that dysregulation of this novel axis contributes to tumorigenesis.", "output": {"entities": {"gene": [{"text": "Fbw7", "start": 102, "end": 106}], "disease": [{"text": "tumorigenesis", "start": 216, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "E2F-1-induced cancer cell apoptosis was accompanied by Bax translocation from the cytosol to mitochondria and the induction of caspase-9 activity, suggesting that E2F-1-induced apoptosis is mediated by PUMA through the cytochrome C/Apaf-1-dependent pathway.", "output": {"entities": {"gene": [{"text": "PUMA", "start": 202, "end": 206}], "disease": [{"text": "translocation", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Alterations in genes involved in regulating the cell cycle such as cyclin D1 and the retinoblastoma (Rb) gene have also been shown to influence cellular response to MTX.", "output": {"entities": {"gene": [{"text": "MTX", "start": 165, "end": 168}], "disease": [{"text": "retinoblastoma", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Since the specific silencing of hepatic Fas expression only partially protected from inflammation, but completely attenuated apoptotic and necrotic cell death as well as microcirculatory dysfunction, the development of therapeutic strategies with DBTC lipoplex formulations to treat ALF should be combined with anti-inflammatory strategies to reach maximal therapeutic efficacy.", "output": {"entities": {"gene": [{"text": "ALF", "start": 283, "end": 286}], "disease": [{"text": "necrotic cell death", "start": 139, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The effect of the mutant & #946; 2 subunit on the INa strongly suggests that SCN2B is a new candidate gene associated with BrS.", "output": {"entities": {"gene": [{"text": "SCN2B", "start": 77, "end": 82}], "disease": [{"text": "BrS", "start": 123, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN2B", "start": 77, "end": 82}, "tail": {"text": "BrS", "start": 123, "end": 126}}]}}, "schema": []}
{"input": "We have also shown that mice haploinsufficient for ATM develop cataracts earlier than wild-type animals, when exposed to either low-LET X-rays or high-LET (56) Fe ions.", "output": {"entities": {"gene": [{"text": "ATM", "start": 51, "end": 54}], "disease": [{"text": "cataracts", "start": 63, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATM", "start": 51, "end": 54}, "tail": {"text": "cataracts", "start": 63, "end": 72}}]}}, "schema": []}
{"input": "Using Ink4a/Arf-deficient primary mouse astrocytes, primary astrocytes immortalized by p53/Rb suppression, as well as human U87 glioma cells, we show that EGFRvIII expression enhances clonogenic survival following IR.", "output": {"entities": {"gene": [{"text": "U87", "start": 124, "end": 127}], "disease": [{"text": "glioma", "start": 128, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Finally, also calcitonin is able to influence haloperidol-induced catalepsy by markedly increasing it.", "output": {"entities": {"gene": [{"text": "calcitonin", "start": 14, "end": 24}], "disease": [{"text": "catalepsy", "start": 66, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "calcitonin", "start": 14, "end": 24}, "tail": {"text": "catalepsy", "start": 66, "end": 75}}]}}, "schema": []}
{"input": "All cirrhotic rats died of liver dysfunction by 7 weeks after the initial injection of DMN.", "output": {"entities": {"gene": [{"text": "DMN", "start": 87, "end": 90}], "disease": [{"text": "liver dysfunction", "start": 27, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Salivary adenoid cystic carcinoma (SACC) is a malignant tumor that is characterized by perineural invasion (PNI).", "output": {"entities": {"gene": [{"text": "PNI", "start": 108, "end": 111}], "disease": [{"text": "adenoid cystic carcinoma", "start": 9, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrated that miR-584 was downregulated in human glioma and could suppress growth of the human glioma cell line U87-MG and U251-MG. Bioinformatics analysis indicated that PTTG1IP was a putative target of miR-584.", "output": {"entities": {"gene": [{"text": "U87", "start": 134, "end": 137}], "disease": [{"text": "glioma", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "DPYSL2", "start": 134, "end": 140}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPYSL2", "start": 134, "end": 140}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Hypoxia induced the up-regulation of HIF-1alpha protein and downstream VEGF gene, and HCPT showed a dose-dependently inhibitory effect on the hypoxia-induced over-expression of HIF-1alpha protein and VEGF gene expression in SiHa cells, whereas HCPT had no significant effect on the HIF-1alpha mRNA expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 71, "end": 75}], "disease": [{"text": "hypoxia", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.", "output": {"entities": {"gene": [{"text": "lathosterol 5-desaturase", "start": 82, "end": 106}], "disease": [{"text": "Lathosterolosis", "start": 0, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lathosterol 5-desaturase", "start": 82, "end": 106}, "tail": {"text": "Lathosterolosis", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "We also observed an effect of LTB (4) on red cell-endothelial adhesion at concentrations that appear clinically relevant (1-10 pmol/mL) with concomitant up-regulation of mRNA for the endothelial vitronectin receptor.", "output": {"entities": {"gene": [{"text": "LTB", "start": 30, "end": 33}], "disease": [{"text": "adhesion", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that CRE, Mef2, and GR signaling form a transcription regulating network, which underlies differential amphetamine sensitivity, and therefore, may play an important role in susceptibility to psychosis.", "output": {"entities": {"gene": [{"text": "Mef2", "start": 25, "end": 29}], "disease": [{"text": "psychosis", "start": 206, "end": 215}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mef2", "start": 25, "end": 29}, "tail": {"text": "psychosis", "start": 206, "end": 215}}]}}, "schema": []}
{"input": "In serous ovarian cancer, we make the novel observation that inactivation of BRCA1 and BRCA2 is mutually exclusive of amplification of CCNE1 and inactivation of RB1, suggesting distinct alternative causes of genomic instability in this cancer type; and, we identify RBBP8 as a candidate oncogene involved in Rb-mediated cell cycle control.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 77, "end": 82}], "disease": [{"text": "genomic instability", "start": 208, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Disc height was decreased after injection with HTRA1 and was significantly correlated with changes in GAG/DNA of the NP tissue.", "output": {"entities": {"gene": [{"text": "HTRA1", "start": 47, "end": 52}], "disease": [{"text": "height", "start": 5, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the LKB1 gene are responsible for the Peutz-Jeghers Syndrome (PJS) characterized by a predisposition to hamartomatous polyps and hyperpigmentation of the buccal mucosa.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 17, "end": 21}], "disease": [{"text": "hyperpigmentation", "start": 142, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We investigated the compensatory changes in endogenous apelin and APJ levels in the setting of ischemic cardiomyopathy. Male, Lewis rats underwent LAD ligation and progressed into heart failure over 6 weeks.", "output": {"entities": {"gene": [{"text": "apelin", "start": 55, "end": 61}], "disease": [{"text": "ischemic cardiomyopathy", "start": 95, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "METHODS: Genomic DNA of the normal liver tissues was extracted from 507 patients with HCC confirmed by histopathological examination and 541 patients with benign liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 86, "end": 89}], "disease": [{"text": "liver diseases", "start": 162, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Matrix metalloproteinases required for ventricular remodeling during the evolution of heart failure are upregulated in utrn (-/-); mdx mice concurrent with the onset of cardiac pathology by 10weeks-of-age.", "output": {"entities": {"gene": [{"text": "utrn", "start": 119, "end": 123}], "disease": [{"text": "ventricular remodeling", "start": 39, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Ectopic nuclear bcl-10 expression, which has been previously associated with API2-MALT1, was seen by immunohistochemistry in 86% of API2-MALT1 fusion-positive cases, one IGH-MALT1 fusion-positive case, two aneuploidy-only cases, and two normal cases.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 82, "end": 87}], "disease": [{"text": "aneuploidy", "start": 206, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Disruption of the ATP8A2 gene in a patient with a t (10; 13) de novo balanced translocation and a severe neurological phenotype.", "output": {"entities": {"gene": [{"text": "ATP8A2 gene", "start": 18, "end": 29}], "disease": [{"text": "translocation", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Thus, feedback regulation of IR trafficking and function by class III PI3K may be a therapeutic target in metabolic conditions of insulin resistance.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 70, "end": 74}], "disease": [{"text": "insulin resistance", "start": 130, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of ANGPTL4, which was highly expressed in hypoxic UM cells, a UM orthotopic transplant model, a UM tumor array, and vitreous samples from UM patients, inhibited the angiogenic potential of UM cells in vitro and in vivo; this effect was additive to VEGF inhibition.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 259, "end": 263}], "disease": [{"text": "hypoxic", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "COX-2 was not expressed in normal urinary bladder samples but was detected in 25 of 29 (86%) invasive transitional cell carcinomas of the urinary bladder and in 6 of 8 (75%) cases of carcinoma in situ.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 0, "end": 5}], "disease": [{"text": "transitional cell carcinomas", "start": 102, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 0, "end": 5}, "tail": {"text": "transitional cell carcinomas", "start": 102, "end": 130}}]}}, "schema": []}
{"input": "IGFBP-rP1 could upreguate Transgelin (TAGLN), downregulate SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) (SOX9), insulin receptor substrate 1 (IRS1), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), amphiregulin (schwannoma-derived growth factor) (AREG) and immediate early response 5-like (IER5L) in RKO, SW620 and CW2 colon cancer cells, verified by Real time Reverse Transcription Polymerase Chain Reaction (rtRT-PCR).", "output": {"entities": {"gene": [{"text": "CDK4", "start": 240, "end": 244}], "disease": [{"text": "campomelic dysplasia", "start": 97, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and iris hypoplasia (IH).", "output": {"entities": {"gene": [{"text": "FKHL7", "start": 13, "end": 18}], "disease": [{"text": "Axenfeld anomaly", "start": 98, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FKHL7", "start": 13, "end": 18}, "tail": {"text": "Axenfeld anomaly", "start": 98, "end": 114}}]}}, "schema": []}
{"input": "This locus has been previously linked to congenital lymphedema, namely by the FLT4 gene.", "output": {"entities": {"gene": [{"text": "FLT4", "start": 78, "end": 82}], "disease": [{"text": "congenital lymphedema", "start": 41, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLT4", "start": 78, "end": 82}, "tail": {"text": "congenital lymphedema", "start": 41, "end": 62}}]}}, "schema": []}
{"input": "TNF also stimulates inflammation by activation of gene transcription through the IkappaB kinase (IKK)/NF-kappaB and JNK (c-Jun N-terminal protein kinase)/AP-1 signaling cascades.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 154, "end": 158}], "disease": [{"text": "inflammation", "start": 20, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Interaction between ALDH2 genotype (Glu/Glu + Glu/Lys versus Lys/Lys) and cumulative smoking dose was statistically significant (P = 0. 036) and was consistently observed in the analysis among never-drinkers (interaction P = 0. 041).", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 20, "end": 25}], "disease": [{"text": "smoking", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "High AKAP121 levels, seen in cells lacking Siah2, attenuate fission and reduce apoptosis of cardiomyocytes under simulated ischemia.", "output": {"entities": {"gene": [{"text": "Siah2", "start": 43, "end": 48}], "disease": [{"text": "ischemia", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.", "output": {"entities": {"gene": [{"text": "GNE", "start": 0, "end": 3}], "disease": [{"text": "distal myopathy with rimmed vacuoles", "start": 22, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNE", "start": 0, "end": 3}, "tail": {"text": "distal myopathy with rimmed vacuoles", "start": 22, "end": 58}}]}}, "schema": []}
{"input": "Anakinra, a recombinant human interleukin-1 receptor antagonist, inhibits apoptosis in experimental acute myocardial infarction.", "output": {"entities": {"gene": [{"text": "interleukin-1 receptor antagonist", "start": 30, "end": 63}], "disease": [{"text": "myocardial infarction", "start": 106, "end": 127}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interleukin-1 receptor antagonist", "start": 30, "end": 63}, "tail": {"text": "myocardial infarction", "start": 106, "end": 127}}]}}, "schema": []}
{"input": "The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, skeletal dysplasia, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling SOPH syndrome.", "output": {"entities": {"gene": [{"text": "NBAS", "start": 27, "end": 31}], "disease": [{"text": "abnormalities", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Intronic variants in the dopa decarboxylase (DDC) gene are associated with smoking behavior in European-Americans and African-Americans.", "output": {"entities": {"gene": [{"text": "DDC", "start": 45, "end": 48}], "disease": [{"text": "smoking behavior", "start": 75, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the similarity in the growth pattern between this female and patients with estrogen resistance or aromatase deficiency implies that the association of an extra copy of SHOX with gonadal estrogen deficiency may represent the further clinical entity for tall stature resulting from continued growth in late teens or into adulthood.", "output": {"entities": {"gene": [{"text": "SHOX", "start": 181, "end": 185}], "disease": [{"text": "tall stature", "start": 265, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "Association study using single nucleotide polymorphisms in the estrogen receptor beta (ESR2) gene for preeclampsia.", "output": {"entities": {"gene": [{"text": "ESR2", "start": 87, "end": 91}], "disease": [{"text": "preeclampsia", "start": 102, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Patients with paraneoplastic pemphigus (PNP) and inflammatory bowel diseases, such as Crohn' s disease (CD) and ulcerative colitis (UC), develop autoantibodies against simple epithelial cells.", "output": {"entities": {"gene": [{"text": "PNP", "start": 40, "end": 43}], "disease": [{"text": "paraneoplastic pemphigus", "start": 14, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The signal transducer and activator of transcription (STAT) 3, a transcriptional factor downstream of several cytokines, is activated by Janus kinase families and plays a pivotal role in cardiac hypertrophy through gp130.", "output": {"entities": {"gene": [{"text": "gp130", "start": 215, "end": 220}], "disease": [{"text": "cardiac hypertrophy", "start": 187, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Invasion of matrigel and adhesion to laminin by AAC-11 transfected CUMC-6 cells were increased by approximately 2-fold and 4-fold, respectively.", "output": {"entities": {"gene": [{"text": "AAC-11", "start": 48, "end": 54}], "disease": [{"text": "adhesion", "start": 25, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Considering the overexpression of mRNA, it was tentatively suggested that LY6E, TACSTD1, and CD44 proteins may act as surface markers for sorting pancreatic cancer stem cells with fluorescence-activated cell sorter/magnetic-activated cell sorter.", "output": {"entities": {"gene": [{"text": "LY6E", "start": 74, "end": 78}], "disease": [{"text": "pancreatic cancer", "start": 146, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LY6E", "start": 74, "end": 78}, "tail": {"text": "pancreatic cancer", "start": 146, "end": 163}}]}}, "schema": []}
{"input": "Two translocation breakpoints in 11p13 (one associated with familial aniridia and one with a sporadic case of congenital renal dysfunction resulting from urethral and ureteral atresia) map within this SRO.", "output": {"entities": {"gene": [{"text": "SRO", "start": 201, "end": 204}], "disease": [{"text": "ureteral atresia", "start": 167, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Sustained activation of Rac1 in hepatic stellate cells promotes liver injury and fibrosis in mice.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 24, "end": 28}], "disease": [{"text": "liver", "start": 64, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rac1", "start": 24, "end": 28}, "tail": {"text": "liver", "start": 64, "end": 69}}]}}, "schema": []}
{"input": "With the specific probes, all RMSs expressed alpha-CARD actin mRNA, four neoplasms expressed also alpha-smooth muscle actin mRNA, whereas the probe for alpha-SK actin mRNA never produced a signal except in one case, in which the tumor masses were intermingled with non-neoplastic preexistent striated muscle fibers.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 104, "end": 123}], "disease": [{"text": "non-neoplastic", "start": 265, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "APOE genotypes in 207 autopsies with intracranial haemorrhage (96 subarachnoid haemorrhage, 71 deep intracerebral haemorrhage, 40 cerebral amyloid angiopathy (CAA)-related haemorrhage patients) were compared with 41 autopsy controls without neuropathological abnormalities and 406 living patients admitted to hospital following head injury.", "output": {"entities": {"gene": [{"text": "APOE", "start": 0, "end": 4}], "disease": [{"text": "intracranial haemorrhage", "start": 37, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "An SGLT1 missense mutation underlies hereditary glucose/galactose malabsorption, characterized by potentially fatal diarrhea; conversely, oral rehydration therapy exploits normal transport to alleviate life-threatening diarrhea of infectious origin.", "output": {"entities": {"gene": [{"text": "SGLT1", "start": 3, "end": 8}], "disease": [{"text": "glucose/galactose malabsorption", "start": 48, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGLT1", "start": 3, "end": 8}, "tail": {"text": "glucose/galactose malabsorption", "start": 48, "end": 79}}]}}, "schema": []}
{"input": "PTK6 is also primarily cytoplasmic in the PC3 prostate adenocarcinoma cell line.", "output": {"entities": {"gene": [{"text": "PC3", "start": 42, "end": 45}], "disease": [{"text": "prostate adenocarcinoma", "start": 46, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "A balding scalp is characterized by high levels of the potent androgen dihydrotestosterone and increased expression of the androgen receptor gene.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 123, "end": 145}], "disease": [{"text": "balding", "start": 2, "end": 9}]}, "relations": {}}, "schema": []}
{"input": "Western blotting revealed downregulated TRPV1 and PGC1α as well as upregulated UCP2 and activation of GSK3β, GATA4, and CREB in cold-stressed WT mouse hearts, which were obliterated by ETAKO.", "output": {"entities": {"gene": [{"text": "CREB", "start": 120, "end": 124}], "disease": [{"text": "cold", "start": 128, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Two lung adenocarcinoma cell lines (CL1-0 and CL1-5) with different metastatic ability and radiosensitivity were used.", "output": {"entities": {"gene": [{"text": "CL1", "start": 36, "end": 39}], "disease": [{"text": "lung adenocarcinoma", "start": 4, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "It is therefore not surprising that folate deficiency may be rare and that the RFC-1 c. 80A--> G polymorphism is less biologically significant for placental abruption.", "output": {"entities": {"gene": [{"text": "RFC", "start": 79, "end": 82}], "disease": [{"text": "placental abruption", "start": 147, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Here, we report on an arterial thrombosis in a young girl with idiopathic membranous glomerulonephritis associated with heterozygous factor V Leiden and homozygous MTHFR C677T mutation.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 133, "end": 148}], "disease": [{"text": "arterial thrombosis", "start": 22, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "No germ-line mutations in MSH3 have so far been associated with Lynch Syndrome, although it is known that impaired MSH3 activity leads to a partial defect in mismatch repair (MMR), with low levels of microsatellite instability at the loci with dinucleotide repeats in colorectal cancer (CRC), thus suggesting a role for MSH3 in carcinogenesis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 175, "end": 178}], "disease": [{"text": "microsatellite instability", "start": 200, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "In vitro, not only reduced expression but also structural abnormalities of E-cadherin have been observed in human carcinoma cell lines which grow in a loosely adhering manner.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 75, "end": 85}], "disease": [{"text": "abnormalities", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.", "output": {"entities": {"gene": [{"text": "KIF5C", "start": 29, "end": 34}], "disease": [{"text": "malformations of cortical development", "start": 51, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KIF5C", "start": 29, "end": 34}, "tail": {"text": "malformations of cortical development", "start": 51, "end": 88}}]}}, "schema": []}
{"input": "Our results point out that the overexpression of HMGA1P6 and HMGA1P7 could contribute to increase HMGA1 levels in human pituitary tumors, and then to pituitary tumorigenesis.", "output": {"entities": {"gene": [{"text": "HMGA1P7", "start": 61, "end": 68}], "disease": [{"text": "tumorigenesis", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Salient findings include a nonsynonymous SNP (rs1056513) in INADL (p = 1. 2E-07) for weight; an intronic variant in MTNR1B associated with fasting glucose (p = 3. 7E-08); variants in the APOA5-ZNF259 region associated with triglycerides (p = 2. 5-4. 8E-08); an intronic variant in PCSK2 associated with total antioxidants (p = 7. 6E-08); a block of 23 SNPs in XPA/FOXE1 (TTF-2) associated with serum TSH (p = 5. 5E-08 to 1. 0E-09); a nonsynonymous SNP (p = 1. 3E-21), an intronic SNP (p = 3. 6E-13) in DARC identified for MCP-1; an intronic variant in ARHGAP11A associated with sleep duration (p = 5. 0E-08); and, after adjusting for body weight, variants in MATK for total energy expenditure (p = 2. 7E-08) and in CHRNA3 for sleeping energy expenditure (p = 6. 0E-08).", "output": {"entities": {"gene": [{"text": "PCSK2", "start": 281, "end": 286}], "disease": [{"text": "body weight", "start": 634, "end": 645}]}, "relations": {}}, "schema": []}
{"input": "To test the hypothesis that polymorphisms in DSBs genes are associated with susceptibility to male infertility, we examined 11 single nucleotide polymorphisms in eight key DSBs genes (XRCC3, XRCC2, BRCA2, RAG1, XRCC5, LIG4, XRCC4 and ATM) in 580 infertility cases and 580 controls from a Chinese population-based case-control study (NJMU Infertility Study).", "output": {"entities": {"gene": [{"text": "XRCC5", "start": 211, "end": 216}], "disease": [{"text": "infertility", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The model contained 13 single-nucleotide polymorphisms (from genes AGTR1, ALOX15, INSR, PRKAB1, IL1R2, ESR2, KCNK1, FBLN5, PPARA, VEGFA, PON1, TDRD6, PLA2G7, and 1 ancestry informative marker) and 5 clinical variables (sex, age, weight, smoking, and diabetes mellitus) and achieved 85% predictive accuracy, as measured by area under the receiver operating characteristic curve.", "output": {"entities": {"gene": [{"text": "PPARA", "start": 123, "end": 128}], "disease": [{"text": "smoking", "start": 237, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Considering this, we wanted to evaluate the frequency of mutations in the coding region of the FUS gene in a sporadic ALS (SALS) cohort compared to a control population.", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 95, "end": 103}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We measured transcript levels of CDC42, CDC42EP3, CDC42EP4; their interacting proteins (septins [SEPT2, 3, 5, 6, 7, 8, and 11], anillin), and other spine-specific proteins (spinophilin, PSD-95, and synaptopodin) in the DLPFC from 31 subjects with schizophrenia and matched normal comparison subjects.", "output": {"entities": {"gene": [{"text": "CDC42", "start": 33, "end": 38}], "disease": [{"text": "schizophrenia", "start": 247, "end": 260}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDC42", "start": 33, "end": 38}, "tail": {"text": "schizophrenia", "start": 247, "end": 260}}]}}, "schema": []}
{"input": "To evaluate sensitivity, specificity, and positive and negative predictive value of mean corpuscular hemoglobin (MCH) for screening alpha-thalassemia-1 trait and beta-thalassemia trait.", "output": {"entities": {"gene": [{"text": "MCH", "start": 113, "end": 116}], "disease": [{"text": "mean corpuscular hemoglobin", "start": 84, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We performed a further comparative analysis of the clinical phenotypes and hematological parameters in this pedigree and found that the father was a carrier of the novel point mutation and showed low levels of hemoglobin (Hb), mean corpuscular volume (MCV) and mean corpuscular Hb (MCH).", "output": {"entities": {"gene": [{"text": "MCH", "start": 282, "end": 285}], "disease": [{"text": "mean corpuscular volume", "start": 227, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "These findings identify an important subgroup of young patients with cancer who carry germline mutations in the p53 tumor-suppressor gene but whose family histories are not indicative of the Li-Fraumeni syndrome.", "output": {"entities": {"gene": [{"text": "p53 tumor-suppressor", "start": 112, "end": 132}], "disease": [{"text": "Li-Fraumeni syndrome", "start": 191, "end": 211}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p53 tumor-suppressor", "start": 112, "end": 132}, "tail": {"text": "Li-Fraumeni syndrome", "start": 191, "end": 211}}]}}, "schema": []}
{"input": "The administration of adenovirus-mediated RNAi and an atelocollagen/siRNA mixture against endogenous DUSP21 significantly suppressed xenograft HCC tumors in mice.", "output": {"entities": {"gene": [{"text": "DUSP21", "start": 101, "end": 107}], "disease": [{"text": "adenovirus", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "HMGB1 thus participates in both development and maintenance of chemotherapy-induced painful neuropathy, in part through RAGE and TLR4.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 120, "end": 124}], "disease": [{"text": "neuropathy", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: The translocation breakpoints in T and B were found in FOXP2 on chromosome 7 and in RFC3 on chromosome 13.", "output": {"entities": {"gene": [{"text": "FOXP2", "start": 64, "end": 69}], "disease": [{"text": "translocation", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease.", "output": {"entities": {"gene": [{"text": "Stargardt disease", "start": 88, "end": 105}], "disease": [{"text": "atrophic", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to study the influence of IL28B rs12979860 gene polymorphism on the biochemistry and pathology of HCV-induced disease in the clinical course from mild chronic hepatitis C to hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "IL28B", "start": 38, "end": 43}], "disease": [{"text": "mild", "start": 158, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "This outcome is associated with an increased basal resistance, but more so, an enhanced Nrf2 response to lesioning that attenuated the ensuing neurotoxicity.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 88, "end": 92}], "disease": [{"text": "neurotoxicity", "start": 143, "end": 156}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nrf2", "start": 88, "end": 92}, "tail": {"text": "neurotoxicity", "start": 143, "end": 156}}]}}, "schema": []}
{"input": "Our data suggest that promoter hypermethylation contributes to the HA-1 gene regulation in tumors.", "output": {"entities": {"gene": [{"text": "HA-1", "start": 67, "end": 71}], "disease": [{"text": "tumors", "start": 91, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HA-1", "start": 67, "end": 71}, "tail": {"text": "tumors", "start": 91, "end": 97}}]}}, "schema": []}
{"input": "This study aimed to examine the influence of PTX3 on cardiac hypertrophy and left ventricular dysfunction with respect to pressure overload.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 45, "end": 49}], "disease": [{"text": "cardiac hypertrophy", "start": 53, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We detected the expression of cyclin G1 with immunohistochemistry, HPV16/18 infection with in situ hybridization, and high-risk HPV infection with Hybrid capture system II (HC-II) in normal group (25 cases), CIN I (48 cases), CIN II (56 cases), CIN III (54 cases), and invasive cervical squamous-cell carcinoma (SCC, 31 cases).", "output": {"entities": {"gene": [{"text": "HC-II", "start": 173, "end": 178}], "disease": [{"text": "carcinoma", "start": 301, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "Here we show that NKX3. 1 expression is dramatically down-regulated in testicular cancer of germ cell origin.", "output": {"entities": {"gene": [{"text": "NKX3. 1", "start": 18, "end": 25}], "disease": [{"text": "testicular cancer", "start": 71, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of genetic polymorphisms of NQO1, ALDH2, CYP2E1, and the combined genotype of these genes on lung cancer risk, and also evaluated the association after stratification by cumulative smoking amounts and alcohol drinking levels.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 66, "end": 71}], "disease": [{"text": "smoking", "start": 213, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "The ongoing identification and characterisation of mutations in the MTHFR gene will provide further insight into the heterogeneity of the clinical phenotype in severe MTHFR deficiency.", "output": {"entities": {"gene": [{"text": "MTHFR", "start": 68, "end": 73}], "disease": [{"text": "MTHFR deficiency", "start": 167, "end": 183}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTHFR", "start": 68, "end": 73}, "tail": {"text": "MTHFR deficiency", "start": 167, "end": 183}}]}}, "schema": []}
{"input": "In this study, we investigated the effects of hypoxia on miR-100 and FGFR3 expression, and the link between miR-100 and FGFR3 in hypoxia.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 69, "end": 74}], "disease": [{"text": "hypoxia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we bring evidence that OSM or interleukin (IL)-6, produced in lymph nodes and/or melanoma cells, could be involved in the establishment of OSM resistance during melanoma progression.", "output": {"entities": {"gene": [{"text": "OSM", "start": 33, "end": 36}], "disease": [{"text": "melanoma", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Reinforcing effects were measured using a double-blind preference procedure comparing ETH to placebo (PLC), and subjective effects were assessed using standardized self-report questionnaires.", "output": {"entities": {"gene": [{"text": "PLC", "start": 102, "end": 105}], "disease": [{"text": "blind", "start": 49, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, the role of caspase-1 in tumorigenesis was not through regulation of colonic inflammation, but rather through regulation of colonic epithelial cell proliferation and apoptosis.", "output": {"entities": {"gene": [{"text": "caspase-1", "start": 26, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "As homozygotes for the nonsense mutation at codon 116, which truncates a carboxyl-terminal site of XPAC protein at an early part of its zinc-finger domain, have not been reported previously, the possible severity of associated neurological abnormalities was not known.", "output": {"entities": {"gene": [{"text": "XPAC", "start": 99, "end": 103}], "disease": [{"text": "abnormalities", "start": 240, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "NR4A2, an orphan nuclear receptor essential in the generation of dopaminergic neurons, has been recently linked to inflammation and cancer.", "output": {"entities": {"gene": [{"text": "NR4A2", "start": 0, "end": 5}], "disease": [{"text": "inflammation", "start": 115, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our findings indicate that Grhl2 plays an essential role in the determination of epithelial phenotype of breast cancers, EMT and tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 136, "end": 139}], "disease": [{"text": "tumor progression", "start": 144, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In this paper, we propose that IL-22 has a crucial role to play in controlling epithelial cell proliferation and tumorigenesis in the breast.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 31, "end": 36}], "disease": [{"text": "tumorigenesis", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Overall, 10 of 11 patients with EGFR mutations in exon 19 or 21 showed tumour regression with gefitinib treatment, compared to only two of 14 patients with wild-type EGFR.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 32, "end": 36}], "disease": [{"text": "regression", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "No significant clinical improvement of the liver abscess was observed during treatment with GM-CSF.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 92, "end": 98}], "disease": [{"text": "liver abscess", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Tensin is a family of multidomain scaffold proteins that bind the cytoplasmic tail of beta-integrins and localize to adhesions that anchor stress fibers in cells.", "output": {"entities": {"gene": [{"text": "Tensin", "start": 0, "end": 6}], "disease": [{"text": "adhesions", "start": 117, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We assessed changes in the 6q24 locus, KATP-channel subunit genes (ABCC8 and KCNJ11), and preproinsulin gene (INS) and investigated associations between genotype and phenotype, with special attention to extra-pancreatic abnormalities.", "output": {"entities": {"gene": [{"text": "ABCC8", "start": 67, "end": 72}], "disease": [{"text": "abnormalities", "start": 220, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "In order to evaluate the pathophysiologic role of BNP in the nephrotic syndrome, we investigated the plasma levels and effects of BNP in adriamycin (ADR)-induced nephrotic rats.", "output": {"entities": {"gene": [{"text": "BNP", "start": 50, "end": 53}], "disease": [{"text": "nephrotic syndrome", "start": 61, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Real time PCR, Western blot, and immunohistofluorescence assays confirmed a significant decrease of the major mitochondrial antioxidant protein manganese-superoxide dismutase (SOD2) in the superficial layer of OA cartilage.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 176, "end": 180}], "disease": [{"text": "OA", "start": 210, "end": 212}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD2", "start": 176, "end": 180}, "tail": {"text": "OA", "start": 210, "end": 212}}]}}, "schema": []}
{"input": "Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.", "output": {"entities": {"gene": [{"text": "GRID1", "start": 124, "end": 129}], "disease": [{"text": "depression", "start": 48, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRID1", "start": 124, "end": 129}, "tail": {"text": "depression", "start": 48, "end": 58}}]}}, "schema": []}
{"input": "Given its role in innate immune responses to bacterial infections, MIF is a novel target for therapeutic intervention in patients with septic shock.", "output": {"entities": {"gene": [{"text": "MIF", "start": 67, "end": 70}], "disease": [{"text": "septic shock", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND & AIMS: In mice, activation of the transient receptor potential cation channels (TRP) TRPV1, TRPV4, and TRPA1 causes visceral hypersensitivity.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 104, "end": 109}], "disease": [{"text": "hypersensitivity", "start": 137, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "REA groups BI, J, G and CF correlated with specific PCR ribotypes whereas more than one ribotype was found within REA groups Y, BK, and K. International surveillance of C. difficile strains is important to document the changing epidemiology of this enteric pathogen that continues to cause healthcare facility outbreaks and sporadic infections in other settings.", "output": {"entities": {"gene": [{"text": "REA", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 324, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "The most commonly known AML1-ETO fusion protein (full-length AML1-ETO) from this translocation has 752 amino acids and contains the N-terminal portion of RUNX1 (also known as AML1, CBFalpha2 or PEBP2alphaB), including its DNA binding domain, and almost the entire RUNX1T1 (also known as MTG8 or ETO) protein.", "output": {"entities": {"gene": [{"text": "AML1", "start": 24, "end": 28}], "disease": [{"text": "translocation", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We estimate that recurrent disruptive mutations in six genes-CHD8, DYRK1A, GRIN2B, TBR1, PTEN, and TBL1XR1-may contribute to 1% of sporadic ASDs.", "output": {"entities": {"gene": [{"text": "DYRK1A", "start": 67, "end": 73}], "disease": [{"text": "sporadic", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "As shown here in a young woman, the natural history of LAMP2 may demonstrate an extreme profile of left ventricular remodeling with regression of hypertrophy (i. e.", "output": {"entities": {"gene": [{"text": "LAMP2", "start": 55, "end": 60}], "disease": [{"text": "ventricular remodeling", "start": 104, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Genes encoding GABRA1 and GABRA6, on chromosome 5, did not provide evidence for association with alcoholism.", "output": {"entities": {"gene": [{"text": "GABRA1", "start": 15, "end": 21}], "disease": [{"text": "alcoholism", "start": 97, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA1", "start": 15, "end": 21}, "tail": {"text": "alcoholism", "start": 97, "end": 107}}]}}, "schema": []}
{"input": "Conversely, HLA-DQA1 * 0301 allele and HLA-DQB1 * 0301 were significantly decreased in asthmatics compared to healthy controls (0. 296 vs 0. 50, P < 0. 01; 0. 4 vs 0. 563, P < 0. 05); Logistic regression analysis showed that HLA-DQA1 * 0104 allele was associated independently with asthma etiology, OR [represented by Exp (B)] was 5. 0942 with 95% CI 2. 2520-21. 1813; Spearman' s analysis showed that HLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were positively associated with atopy, the correlation coefficient were 0. 183 and 0. 289 respectively, P < 0. 01.", "output": {"entities": {"gene": [{"text": "HLA-DQB1", "start": 39, "end": 47}], "disease": [{"text": "atopy", "start": 484, "end": 489}]}, "relations": {}}, "schema": []}
{"input": "In this investigation of the association of red cell values with the ALDH2 genotype and possible confounding factors, the drinking, smoking, and dietary habits reported on a structured questionnaire by 163 Japanese working men were subjected to multivariate analyses.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 69, "end": 74}], "disease": [{"text": "smoking", "start": 132, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Primary eosinophilic disorders include hypereosinophilic syndrome (HES); chronic eosinophilic leukemia, not otherwise categorized (CEL-NOC); platelet-derived growth factor receptor (PDGFR)-rearranged myeloid neoplasms; and other myeloid malignancies associated with prominent blood eosinophilia.", "output": {"entities": {"gene": [{"text": "NOC", "start": 135, "end": 138}], "disease": [{"text": "eosinophilia", "start": 282, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "In the Ewing' s sarcoma and fibromatosis samples, two sarcomas where miR-182-5p is significantly downregulated, multiple predicted targets were significantly upregulated, including HMCN1, NKX2-2, SCNN1G, and SOX2.", "output": {"entities": {"gene": [{"text": "NKX2-2", "start": 188, "end": 194}], "disease": [{"text": "fibromatosis", "start": 28, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The most common genetic aberration in follicular lymphoma (FL) is the t (14; 18) (q32; q21) translocation that juxtaposes the antiapoptotic BCL2 gene with the promoter of the immunoglobulin heavy chain (IgH) gene.", "output": {"entities": {"gene": [{"text": "BCL2 gene", "start": 140, "end": 149}], "disease": [{"text": "translocation", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In a population-based study of 305 cases and 428 controls in Warsaw, Poland, we evaluated the effect of polymorphisms in alcohol metabolizing genes, including ADH1B (Ex9 + 5C > T, Ex3 + 23A > G, Ex3 + 58A > T and Ex9 + 77A > G), ADH1C (Ex8-56A > G and Ex6-14G > A) and ALDH2 (Ex1 + 82A > G), on levels of alcohol drinking and susceptibility of stomach cancer.", "output": {"entities": {"gene": [{"text": "Ex1", "start": 276, "end": 279}], "disease": [{"text": "stomach cancer", "start": 344, "end": 358}]}, "relations": {}}, "schema": []}
{"input": "Functional data from fibroblasts derived from individuals with PIK3R1 mutations showed severe insulin resistance for both proximal and distal PI3K-dependent signaling.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 142, "end": 146}], "disease": [{"text": "insulin resistance", "start": 94, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The exogenous miR-363 promotes growth, viability, progression, epithelial-mesenchymal transition and tumorsphere formation of SC-M1 gastric cancer cells through downregulation of MBP-1, whereas the knockdown of endogenous miR-363 suppresses tumorigenesis and progression of SC-M1 cells via upregulation of MBP-1.", "output": {"entities": {"gene": [{"text": "MBP-1", "start": 179, "end": 184}], "disease": [{"text": "tumorigenesis", "start": 241, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that SCN5A is one of the responsible genes for IVF patients who do not show typical ECG manifestations of the Brugada syndrome.", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 28, "end": 33}], "disease": [{"text": "IVF", "start": 70, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN5A", "start": 28, "end": 33}, "tail": {"text": "IVF", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "In the light of data that major depression is associated with an activation of brain CRH and LC-NE systems, the time-dependent effect of long-term imipramine administration on decreasing the gene expression of CRH in the hypothalamus and TH in the LC may be relevant to the therapeutic efficacy of this agent in depression.", "output": {"entities": {"gene": [{"text": "TH", "start": 238, "end": 240}], "disease": [{"text": "major depression", "start": 26, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TH", "start": 238, "end": 240}, "tail": {"text": "major depression", "start": 26, "end": 42}}]}}, "schema": []}
{"input": "Intradermally injected substance P (1 and 3 microM, 25 and 75 pmol) released significant amounts of histamine (peak levels being 90 and 475 nM), evoked weal-and-flare reactions, but did not cause pain.", "output": {"entities": {"gene": [{"text": "substance P", "start": 23, "end": 34}], "disease": [{"text": "weal", "start": 152, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Beside the drug-responsive elements of the mdr1 promoter, heat-shock responsive elements have also been identified, which could be exploited for construction of heat-inducible expression vectors.", "output": {"entities": {"gene": [{"text": "mdr1", "start": 43, "end": 47}], "disease": [{"text": "shock", "start": 63, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We identified a variant in CCDC22 gene as the cause of an X-linked phenotype similar to RSS/3C syndrome in the family described here.", "output": {"entities": {"gene": [{"text": "CCDC22", "start": 27, "end": 33}], "disease": [{"text": "3C syndrome", "start": 92, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC22", "start": 27, "end": 33}, "tail": {"text": "3C syndrome", "start": 92, "end": 103}}]}}, "schema": []}
{"input": "MMR status in CRCs was established by testing for microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 0, "end": 3}], "disease": [{"text": "microsatellite instability", "start": 50, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In another rare, neurodegenerative striatal motor disorder, that is, autosomal-dominant striatal degeneration, genetic defects in PDE8B gene are thought to underlie the neurodegenerative processes.", "output": {"entities": {"gene": [{"text": "PDE8B gene", "start": 130, "end": 140}], "disease": [{"text": "motor disorder", "start": 44, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "AST was obtained from the medicinal plant Astragalus membranaceus, which possesses anti-tumor and pro-apoptotic properties in colon cancer cells and tumor xenograft.", "output": {"entities": {"gene": [{"text": "AST", "start": 0, "end": 3}], "disease": [{"text": "colon cancer", "start": 126, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found that CML CD34 + cells expressed lower level of Spred2 compared with normal hematopoietic progenitor cells, and adenovirus mediated restoration of Spred2 promoted the erythroid differentiation of CML cells.", "output": {"entities": {"gene": [{"text": "Spred2", "start": 71, "end": 77}], "disease": [{"text": "adenovirus", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous Fbxw7 propellor tip (R482Q) mutations promote intestinal tumorigenesis on an Apc mutant background.", "output": {"entities": {"gene": [{"text": "Fbxw7", "start": 13, "end": 18}], "disease": [{"text": "tumorigenesis", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha inhibited the growth of one large cell carcinoma cell line (H-157), whereas all SCLC lines were found to be insensitive.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 0, "end": 9}], "disease": [{"text": "large cell carcinoma", "start": 38, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The weight lowering potential of glucagon-like peptide 1 (GLP-1) receptor agonists (RAs) is inter-individually different and clinically unpredictable.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 58, "end": 63}], "disease": [{"text": "weight", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that interaction with the auxiliary subunit TRIP8b is a major mechanism underlying proper expression of HCN channels and I (h) in vivo, and suggest that targeting I (h) may provide a novel approach to treatment of depression.", "output": {"entities": {"gene": [{"text": "TRIP8b", "start": 67, "end": 73}], "disease": [{"text": "depression", "start": 237, "end": 247}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRIP8b", "start": 67, "end": 73}, "tail": {"text": "depression", "start": 237, "end": 247}}]}}, "schema": []}
{"input": "We showed that these \" naked \" siRNAs suppress neovascularization in mice not via RNAi but via sequence-independent activation of cell surface Toll-like receptor-3 (TLR3).", "output": {"entities": {"gene": [{"text": "TLR3", "start": 165, "end": 169}], "disease": [{"text": "neovascularization", "start": 47, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "One patient with mutated DPD was not treated with chemotherapy upon the clinician' s decision because of his DPD mutated genotype and the presence of microsatellite instability.", "output": {"entities": {"gene": [{"text": "DPD", "start": 25, "end": 28}], "disease": [{"text": "microsatellite instability", "start": 150, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Here we provide evidence in human neural (HN) cells of an aluminum-sulfate-and reactive oxygen species (ROS)-mediated up-regulation of an NF-kappaB-sensitive miRNA-146a that down-regulates the expression of complement factor H (CFH), an important repressor of inflammation.", "output": {"entities": {"gene": [{"text": "CFH", "start": 228, "end": 231}], "disease": [{"text": "inflammation", "start": 260, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "The (X; 1) (p11; q21) translocation is a recurrent chromosomal abnormality in a subset of human papillary renal cell carcinomas, and is sometimes the sole cytogenetic abnormality present.", "output": {"entities": {"gene": [{"text": "p11", "start": 12, "end": 15}], "disease": [{"text": "cytogenetic abnormality", "start": 155, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "No significant abnormalities of the N400 repetition effect or the P600 repetition effect were found, indicating preserved implicit memory and verbal memory, respectively, in females with FXTAS.", "output": {"entities": {"gene": [{"text": "P600", "start": 66, "end": 70}], "disease": [{"text": "abnormalities", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "BMPR2 potentially signals through multiple immediate downstream pathways, including Smad, MAPK, LIM domain kinase 1 (LIMK) and dynein, light chain, Tctex-type 1 (TCTEX), v-src sarcoma viral oncogene homolog (SRC), and nuclear factor kappa-B (NFkB).", "output": {"entities": {"gene": [{"text": "BMPR2", "start": 0, "end": 5}], "disease": [{"text": "sarcoma", "start": 176, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Recently, 3 functional polymorphisms, G (-930) A in CYBA, T481S in CLCNKB, and E65K in KCNMB1, were reported to be associated with blood pressure (BP) status and the aim of this study was to confirm those findings using a large cohort representing the general Japanese population.", "output": {"entities": {"gene": [{"text": "CYBA", "start": 52, "end": 56}], "disease": [{"text": "blood pressure", "start": 131, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Thus, RSUME plays an important role in initiating pituitary tumour neovascularisation through regulating HIF-1α levels and subsequent VEGF-A production and may therefore be critically involved in pituitary adenoma progression.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 105, "end": 111}], "disease": [{"text": "pituitary tumour", "start": 50, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "STUDY DESIGN: We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.", "output": {"entities": {"gene": [{"text": "BHMT2", "start": 118, "end": 123}], "disease": [{"text": "endometriosis", "start": 419, "end": 432}]}, "relations": {}}, "schema": []}
{"input": "Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.", "output": {"entities": {"gene": [{"text": "TCF4", "start": 54, "end": 58}], "disease": [{"text": "Pitt-Hopkins syndrome", "start": 67, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCF4", "start": 54, "end": 58}, "tail": {"text": "Pitt-Hopkins syndrome", "start": 67, "end": 88}}]}}, "schema": []}
{"input": "To investigate abnormalities in BCR-mediated signaling pathway in lupus B lymphocytes, we analyzed HS1, a molecule downstream of BCR, in 80 Japanese SLE patients.", "output": {"entities": {"gene": [{"text": "HS1", "start": 99, "end": 102}], "disease": [{"text": "abnormalities", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Mutations in DHDPSL are responsible for primary hyperoxaluria type III.", "output": {"entities": {"gene": [{"text": "DHDPSL", "start": 13, "end": 19}], "disease": [{"text": "primary hyperoxaluria type III", "start": 40, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DHDPSL", "start": 13, "end": 19}, "tail": {"text": "primary hyperoxaluria type III", "start": 40, "end": 70}}]}}, "schema": []}
{"input": "Evidence that HIF-2alpha is the important isoform for EPO regulation in humans comes from the recent observation that mutations in the HIF2A gene are associated with cases of erythrocytosis.", "output": {"entities": {"gene": [{"text": "HIF2A", "start": 135, "end": 140}], "disease": [{"text": "erythrocytosis", "start": 175, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "None of the 13 cases analyzed by FISH showed the t (6; 14) translocation, but in 2 (15. 3%) grade I FLs 3 cyclin D3 signals were detected.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 106, "end": 115}], "disease": [{"text": "translocation", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Expression of transforming growth factor (TGF)-beta1,-beta2, and-beta3 isoforms and TGF-beta type I and type II receptors in multiple sclerosis lesions and human adult astrocyte cultures.", "output": {"entities": {"gene": [{"text": "beta2", "start": 54, "end": 59}], "disease": [{"text": "multiple sclerosis", "start": 125, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expressions of intestinal proteins claudin, occludin and zona occludens-1 were significantly decreased in ethanol group.", "output": {"entities": {"gene": [{"text": "occludin", "start": 53, "end": 61}], "disease": [{"text": "zona", "start": 66, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Among HLA-DRB1 specificities, HLA-DRB1 * 01 showed positive correlation with asthma and atopy (p = 0. 034), while HLA-DRB1 * 03 specificity was observed with significantly higher frequency among patients with total serum IgE > or = 400 KU/L (p = 0. 048).", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 6, "end": 14}], "disease": [{"text": "atopy", "start": 88, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxia or IL-1 stimulation, conditions common to the inflamed synovium, type B synoviocytes secrete increased levels of VEGF, which is likely to act on nearby endothelia, promoting angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 127, "end": 131}], "disease": [{"text": "hypoxia", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Following treatment, cells in the Lichong Decoction group appeared to be arranged normally, the cellular morphology were almost in a normal state, hyperplasia and hypertrophy of the chondriosome was reduced, collagen fibers were arranged in a regular manner, without obvious hyperplasia, and the expression of IGF-I and PCNA mRNA was significantly decreased compared with the model group (P < 0. 01).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 320, "end": 324}], "disease": [{"text": "hyperplasia", "start": 147, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In in vitro experiments, the inhibition of the cytoplasmic translocation of HuR protein by leptomycin B (LMB) reduced the upregulation of VEGF-A expression in malignant astrocytic tumor cells under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 138, "end": 144}], "disease": [{"text": "hypoxic", "start": 198, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Disruption of SSX1 or SSX2, by chromosome translocation and' in-frame' fusion to SYT, is a consistent feature of synovial sarcomas.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 22, "end": 26}], "disease": [{"text": "chromosome translocation", "start": 31, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, GAD positive subjects initially diagnosed with Type 2 diabetes are unable to compensate for insulin resistance due to more pronounced beta-cell impairment.", "output": {"entities": {"gene": [{"text": "GAD", "start": 15, "end": 18}], "disease": [{"text": "insulin resistance", "start": 107, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Tissue concentrations (fmol/mg tissue wet weight) of immunoreactive 7B2 varied from 135 to 1787 in pituitary tumours; from less than 0. 5 to 555 in bronchial carcinoids; from 21. 7 to 793 in phaeochromocytomas; from less than 1. 6 to 948 in medullary thyroid carcinomas.", "output": {"entities": {"gene": [{"text": "7B2", "start": 68, "end": 71}], "disease": [{"text": "carcinomas", "start": 259, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "MSP screening of leukemia cells from six T-lineage acute lymphoblastic leukemia (ALL) patients demonstrated methylation of the Syk promoter CpG island in one T-lineage ALL patient.", "output": {"entities": {"gene": [{"text": "MSP", "start": 0, "end": 3}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 51, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Detection of new mutations in the ATP7B gene in new populations increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 34, "end": 39}], "disease": [{"text": "WD", "start": 166, "end": 168}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 34, "end": 39}, "tail": {"text": "WD", "start": 166, "end": 168}}]}}, "schema": []}
{"input": "Forced cyclin A1 overexpression in NIH3T3 cells and in U937 leukemic cells either by transient transfection or by retroviral infection enhanced S phase entry.", "output": {"entities": {"gene": [{"text": "cyclin A1", "start": 7, "end": 16}], "disease": [{"text": "retroviral infection", "start": 114, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The potential role of NCAM in tumour cell biology was investigated by silencing the NCAM gene in the TPC1 thyroid papillary carcinoma cell line.", "output": {"entities": {"gene": [{"text": "TPC1", "start": 101, "end": 105}], "disease": [{"text": "papillary carcinoma", "start": 114, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 128, "end": 149}], "disease": [{"text": "Fabry disease", "start": 61, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 128, "end": 149}, "tail": {"text": "Fabry disease", "start": 61, "end": 74}}]}}, "schema": []}
{"input": "Increasing evidence suggests that EMT plays a pivotal role in tumor progression and metastatic spread.", "output": {"entities": {"gene": [{"text": "EMT", "start": 34, "end": 37}], "disease": [{"text": "tumor progression", "start": 62, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Electroretinographic (ERG) responses in rats treated with 1, at doses 20-40 times higher than those needed to treat addiction in rats, exhibited reductions in ERG responses, which were less than the reductions observed in rats treated with vigabatrin at the same dose needed to treat addiction in rats.", "output": {"entities": {"gene": [{"text": "ERG", "start": 22, "end": 25}], "disease": [{"text": "addiction", "start": 116, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Recurrence rates, disease-free survival, and overall survival were compared between EGFR-mutant and wild-type patients using Kaplan-Meier methods and Cox regression models.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 84, "end": 88}], "disease": [{"text": "regression", "start": 154, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "miR-let7c, miR-100, and miR-218 were significantly overexpressed by all localized high GS, pT3 PC in comparison with metastatic carcinoma.", "output": {"entities": {"gene": [{"text": "let7c", "start": 4, "end": 9}], "disease": [{"text": "metastatic carcinoma", "start": 117, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Two distinct partners of double IGH translocation identified by FISH were as follows: c-MYC + BCL2 in 3 patients, c-MYC + BCL1 in 2, c-MYC + BCL6 in one, BCL2 + 9q22 in one, and 1q21 + 6q27 in one.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 94, "end": 98}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Hypoxic culture alone also stimulated VEGF secretion, but more importantly, hypoxic culture conditions doubled the rate of VEGF secretion stimulated by the cytokines TGF-beta and IL-1.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 166, "end": 174}], "disease": [{"text": "hypoxic", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Sixty-seven patients with stroke were selected according to the cerebral infarction diagnosis standard of the Fourth National Cerebrovascular Disease Conference and divided into a PSD group (28 patients, 43-76 years old) or a control stroke group (39 patients, 43-78 years old) using the Hamilton Rating Scale for Depression, and compared to 40 healthy volunteers (42-78 years old).", "output": {"entities": {"gene": [{"text": "PSD", "start": 180, "end": 183}], "disease": [{"text": "cerebral infarction", "start": 64, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Here we report that the inositol polyphosphate 5-phosphatase, phosphatidylinositol 4, 5-bisphosphate 5-phosphatase, has a tumour suppressive role in melanoma.", "output": {"entities": {"gene": [{"text": "inositol polyphosphate 5-phosphatase", "start": 24, "end": 60}], "disease": [{"text": "melanoma", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Transfections using siWee1 in metastatic melanoma cell lines; WM239 (WTp53), WM45. 1 (MUTp53) and LOX (WTp53), further support our hypothesis of a tumor promoting role of Wee1 in melanomas.", "output": {"entities": {"gene": [{"text": "LOX", "start": 98, "end": 101}], "disease": [{"text": "metastatic melanoma", "start": 30, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In M2 AML, the t (8; 21) translocation, CBFalpha (AML1) is altered and produced as the AML1-ETO fusion protein.", "output": {"entities": {"gene": [{"text": "AML1", "start": 50, "end": 54}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, a methylation-sensitive restriction enzyme method was used to demonstrate statistically significant (p & lt; 0. 0001) increase in the frequency of NR5A1 gene methylation in ovarian tumors (36/46; 78%) versus normal ovaries (1/11; 9%).", "output": {"entities": {"gene": [{"text": "NR5A1", "start": 160, "end": 165}], "disease": [{"text": "ovarian tumors", "start": 186, "end": 200}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR5A1", "start": 160, "end": 165}, "tail": {"text": "ovarian tumors", "start": 186, "end": 200}}]}}, "schema": []}
{"input": "ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 0, "end": 4}], "disease": [{"text": "epilepsy", "start": 37, "end": 45}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 0, "end": 4}, "tail": {"text": "epilepsy", "start": 37, "end": 45}}]}}, "schema": []}
{"input": "Early treatment with progesterone alone or more evidently in combination with E (2) showed a clinical benefit and produced myelinating and neuroprotective effects in mice with MOG (40-45)-induced EAE.", "output": {"entities": {"gene": [{"text": "MOG", "start": 176, "end": 179}], "disease": [{"text": "EAE", "start": 196, "end": 199}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MOG", "start": 176, "end": 179}, "tail": {"text": "EAE", "start": 196, "end": 199}}]}}, "schema": []}
{"input": "The hemogram showed a phenotype of beta-thalassemia minor: Hb (13. 1 g/dL), mean corpuscular volume (MCV) (62 fL) with low mean corpuscular hemoglobin (MCH) (20. 8 pg), associated with a high level of Hb A (2) of 5. 3%.", "output": {"entities": {"gene": [{"text": "MCH", "start": 152, "end": 155}], "disease": [{"text": "mean corpuscular volume", "start": 76, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Two top loci in interaction term analyses, RBFOX3 and ERO1LB-EDARADD, also displayed suggestive differences in main effect size between the lean and obese strata.", "output": {"entities": {"gene": [{"text": "EDARADD", "start": 61, "end": 68}], "disease": [{"text": "obese", "start": 149, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Recently, a number of patient-specific VANGL1 and VANGL2 protein mutations have been identified in familial and sporadic cases of mild and severe forms of NTDs.", "output": {"entities": {"gene": [{"text": "VANGL1", "start": 39, "end": 45}], "disease": [{"text": "mild", "start": 130, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "It has been previously suggested that t (14; 18) translocation of bcl-2 to the immuno-globulin heavy chain (IgH) locus may contribute to pathogenesis of lymphoproliferative disorders related to hepatitis C virus (HCV) infection, including type II mixed cryoglobulinemia (MC).", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 95, "end": 106}], "disease": [{"text": "mixed cryoglobulinemia", "start": 247, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Although the retinas are initially normal, by 3-9 months the Crb1 (-/-) retinas develop localized lesions where the integrity of the outer limiting membrane is lost and giant half rosettes are formed.", "output": {"entities": {"gene": [{"text": "Crb1", "start": 61, "end": 65}], "disease": [{"text": "giant", "start": 169, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "ING5 inhibits cancer aggressiveness via preventing EMT and is a potential prognostic biomarker for lung cancer.", "output": {"entities": {"gene": [{"text": "ING5", "start": 0, "end": 4}], "disease": [{"text": "aggressiveness", "start": 21, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Blunted GLP-1 response to OGTT was observed in heavier as compared with leaner DZ cotwins discordant for obesity and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 8, "end": 13}], "disease": [{"text": "insulin sensitivity", "start": 117, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The median survival time of the patients with the BCL-2 rearrangement and/or t (14; 18) was longer than the patients without the BCL-2 gene rearrangement and translocation and also patients with the c-MYC gene rearrangement and/or translocation.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 50, "end": 55}], "disease": [{"text": "translocation", "start": 158, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins.", "output": {"entities": {"gene": [{"text": "Gfi-1", "start": 83, "end": 88}], "disease": [{"text": "neurodegeneration", "start": 36, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Moreover, understanding the role of IL-8 in EMT will provide insight into the pathogenesis of tumor progression and may facilitate the development of an effective strategy for the prevention and treatment of metastatic cancer.", "output": {"entities": {"gene": [{"text": "EMT", "start": 44, "end": 47}], "disease": [{"text": "tumor progression", "start": 94, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Patients with the highest expression of HIFs and the lowest VEGFA and VEGFR2 were essentially the same, indicating hypoxia without the necessary angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 60, "end": 65}], "disease": [{"text": "hypoxia", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Intrahepatic expression of c-fos, c-myb and c-myc oncogenes: correlation with virus-induced chronic liver disease and response to interferon.", "output": {"entities": {"gene": [{"text": "myc oncogenes", "start": 46, "end": 59}], "disease": [{"text": "chronic liver disease", "start": 92, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Downregulated glucose transporter 4, insulin receptor substrate-1 and leptin receptor (P < 0. 01) were found relative to normal, where DNA ladder, downregulated B cell lymphoma/leukemia-2, upregulated B cell lymphoma/leukemia-2 Associated X protein and upregulated ER stress chaperones such as Bip/GRP78 (also known as Binding Protein, BiP), PKR-like ER kinase (PERK), p-PERK/PERK and C/EBP homologous protein were significant.", "output": {"entities": {"gene": [{"text": "PERK", "start": 362, "end": 366}], "disease": [{"text": "leukemia", "start": 177, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "The model of RVD (SU5416/hypoxia) exhibited a significantly decreased gene expression of peroxisome proliferator-activated receptor-γ coactivator-1α, peroxisome proliferator-activated receptor-α and estrogen-related receptor-α.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor-γ", "start": 89, "end": 133}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The CCN4-induced VCAM-1 expression promoted monocyte adhesion to human OASFs.", "output": {"entities": {"gene": [{"text": "CCN4", "start": 4, "end": 8}], "disease": [{"text": "adhesion", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Functional variants of the lipoprotein lipase gene and the risk of preeclampsia among non-Hispanic Caucasian women.", "output": {"entities": {"gene": [{"text": "lipoprotein lipase gene", "start": 27, "end": 50}], "disease": [{"text": "preeclampsia", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.", "output": {"entities": {"gene": [{"text": "OPA3", "start": 0, "end": 4}], "disease": [{"text": "autosomal dominant optic atrophy and cataract", "start": 36, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA3", "start": 0, "end": 4}, "tail": {"text": "autosomal dominant optic atrophy and cataract", "start": 36, "end": 81}}]}}, "schema": []}
{"input": "The KSR2 locus displayed pleiotropic associations with triglyceride and measures of blood pressure.", "output": {"entities": {"gene": [{"text": "KSR2", "start": 4, "end": 8}], "disease": [{"text": "blood pressure", "start": 84, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "POU4F3 is a known disease gene causing AD-HSLH (DFNA15) described in 5 unrelated families until now each with a unique mutation.", "output": {"entities": {"gene": [{"text": "POU4F3", "start": 0, "end": 6}], "disease": [{"text": "DFNA15", "start": 48, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POU4F3", "start": 0, "end": 6}, "tail": {"text": "DFNA15", "start": 48, "end": 54}}]}}, "schema": []}
{"input": "Transient expression of the mitogen-activated protein kinase phosphatase MKP-1 (3CH134/ERP1) in the rat brain after limbic epilepsy.", "output": {"entities": {"gene": [{"text": "MKP-1", "start": 73, "end": 78}], "disease": [{"text": "epilepsy", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "This translocation interrupts two genes, AML1 on chromosome 21q and MTG8 (ETO) on 8q to form a chimeric gene AML1/MTG8 on the der (8) chromosome.", "output": {"entities": {"gene": [{"text": "AML1", "start": 41, "end": 45}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "TGF & #946;-inducible early gene-1 (TIEG1) mutations in hypertrophic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "TIEG1", "start": 36, "end": 41}], "disease": [{"text": "hypertrophic cardiomyopathy", "start": 56, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TIEG1", "start": 36, "end": 41}, "tail": {"text": "hypertrophic cardiomyopathy", "start": 56, "end": 83}}]}}, "schema": []}
{"input": "These results indicate that the hypoxia-inducible enhancer of the human vascular endothelial growth factor gene, which is directly linked to human AFP promoter, involves selective and enhanced tumoricidal activity in gene therapy for hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "AFP", "start": 147, "end": 150}], "disease": [{"text": "hypoxia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Because of the evidence that Hodgkin' s lymphoma is a neoplasm of B cells, we examined cases of Hodgkin' s lymphoma for T-bet expression by immunohistochemical staining and found that neoplastic cells in most cases of classic Hodgkin' s lymphoma (33 of 37 cases, 89%), including nodular sclerosis type (17 of 21 cases, 81%) and mixed cellularity type (15 of 15, 100%), express T-bet.", "output": {"entities": {"gene": [{"text": "T-bet", "start": 120, "end": 125}], "disease": [{"text": "nodular sclerosis", "start": 279, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "It has been shown earlier that the member of the NF-κB family of inflammation-associated transcription factors, p65/RelA, is cleaved during chlamydial infection, and a chlamydial protease has been implicated.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 49, "end": 54}], "disease": [{"text": "chlamydial infection", "start": 140, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia.", "output": {"entities": {"gene": [{"text": "POP1", "start": 85, "end": 89}], "disease": [{"text": "anauxetic dysplasia", "start": 255, "end": 274}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POP1", "start": 85, "end": 89}, "tail": {"text": "anauxetic dysplasia", "start": 255, "end": 274}}]}}, "schema": []}
{"input": "The gene coding for PTGDS was found to be more expressed in patients with ADHD relative to patients with BP, indicating a possible link with the differential etiology of ADHD.", "output": {"entities": {"gene": [{"text": "PTGDS", "start": 20, "end": 25}], "disease": [{"text": "BP", "start": 105, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTGDS", "start": 20, "end": 25}, "tail": {"text": "BP", "start": 105, "end": 107}}]}}, "schema": []}
{"input": "Since an increase in the C-8/C-1 ratio was also observed in victims of multiple sclerosis but not other neurological diseases, the ND4 model may address primary changes prior to demyelination, while the EAE model addresses the autoimmune aspects of the disease.", "output": {"entities": {"gene": [{"text": "ND4", "start": 131, "end": 134}], "disease": [{"text": "demyelination", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "These genes include tumor suppressors or candidates (VHL, CTDSPL, LRRC3B, ALDH1L1, and EPHB1) and genes that were not previously considered as cancer-associated (e. g., LRRN1, GORASP1, FGD5, and PLCL2).", "output": {"entities": {"gene": [{"text": "PLCL2", "start": 195, "end": 200}], "disease": [{"text": "cancer", "start": 143, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In BPD, the expression of HDAC4 mRNA was increased only in a depressive state, and the expression of HDAC6 and-8 was decreased in both depressive and remissive states compared to controls, whereas the first-degree relatives did not show any significant alteration in expression levels.", "output": {"entities": {"gene": [{"text": "HDAC4", "start": 26, "end": 31}], "disease": [{"text": "depressive state", "start": 61, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC4", "start": 26, "end": 31}, "tail": {"text": "depressive state", "start": 61, "end": 77}}]}}, "schema": []}
{"input": "A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.", "output": {"entities": {"gene": [{"text": "keratin 2e", "start": 37, "end": 47}], "disease": [{"text": "ichthyosis bullosa of Siemens", "start": 56, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 2e", "start": 37, "end": 47}, "tail": {"text": "ichthyosis bullosa of Siemens", "start": 56, "end": 85}}]}}, "schema": []}
{"input": "In mice, quantitative trait locus studies and behavioral evaluation of animals deleted for 5-HT1B have implicated this serotonin autoreceptor in alcohol consumption and aggressive behavior.", "output": {"entities": {"gene": [{"text": "5-HT1B", "start": 91, "end": 97}], "disease": [{"text": "alcohol consumption", "start": 145, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Near-triploid acute lymphoblastic leukemia with TEL/AML1 translocation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 52, "end": 56}], "disease": [{"text": "translocation", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The mechanism by which impaired MECP2 activity can induce pathological abnormalities in the nervous system of patients with Rett syndrome (RTT) is not clearly understood.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 32, "end": 37}], "disease": [{"text": "nervous system", "start": 92, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "EGFR mutations were more frequent in non-smoking patients (p = 0. 008), and EGFR mutations were associated with EGFR FISH positivity (p < 0. 0001).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "These include older age, male gender, poor performance status, co-morbidities, degree of anemia, low absolute neutrophile count (ANC) and platelet counts, RBC transfusion requirements, high serum ferritin, high LDH, bone marrow (BM) fibrosis, increased number of BM CD34 + cells and multi-lineage dysplasia.", "output": {"entities": {"gene": [{"text": "CD34", "start": 266, "end": 270}], "disease": [{"text": "fibrosis", "start": 233, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Adrenomedullin had no effect on ANG II-or norepinephrine-induced left ventricular hypertrophy or expression of hypertrophy-associated genes, including contractile protein and natriuretic peptide genes.", "output": {"entities": {"gene": [{"text": "ANG", "start": 32, "end": 35}], "disease": [{"text": "ventricular hypertrophy", "start": 70, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Metformin has a dual effect by simultaneously increasing VEGFA and reducing CXCL10 and TIMP1 in CD34 (+) cells in a model of the diabetic state combined with hypoxia.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 57, "end": 62}], "disease": [{"text": "hypoxia", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "AML1 is one of the genes most frequently deregulated in leukemia through different mechanisms including translocation, mutation and amplification.", "output": {"entities": {"gene": [{"text": "AML1", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The frequency of the I27V mutation in the HBV core gene, which produces a core 18-27 peptide capable of binding HLA-A * 02, was compared in Chinese patients with severe liver inflammation (n = 77, including 39 with acute-on-chronic liver failure), moderate liver inflammation (n = 44) and inactive disease (n = 45).", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 112, "end": 117}], "disease": [{"text": "acute-on-chronic liver failure", "start": 215, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "In this study we have analyzed by in situ hybridization and immunohistochemistry the expression patterns of two antimicrobial peptides, human beta defensin-1 and human beta defensin-2, in healthy human hair follicles as well as in perilesional and intralesional skin of acne vulgaris lesions such as comedones, papules, and pustules.", "output": {"entities": {"gene": [{"text": "beta defensin-2", "start": 168, "end": 183}], "disease": [{"text": "comedones", "start": 300, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "Hepatic microsomal cytochrome P450 (CYP2E1), induced in chronic alcohol abuse, is also reported to oxidize ethanol.", "output": {"entities": {"gene": [{"text": "P450", "start": 30, "end": 34}], "disease": [{"text": "chronic alcohol abuse", "start": 56, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P450", "start": 30, "end": 34}, "tail": {"text": "chronic alcohol abuse", "start": 56, "end": 77}}]}}, "schema": []}
{"input": "BCL9-2 overexpression in vivo delayed the mammary involution and induced alveolar hyperplasia.", "output": {"entities": {"gene": [{"text": "BCL9-2", "start": 0, "end": 6}], "disease": [{"text": "hyperplasia", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "These results provide further evidence that STK11/LKB1 acts as a tumour suppressor gene, and may be involved in the early stages of PJS tumorigenesis.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 50, "end": 54}], "disease": [{"text": "tumorigenesis", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "We further demonstrated that Pfn1 overexpression in MDA-MB-231 cells is associated with a significant reduction in the level of the phosphoinositide regulator of AKT, PIP (3), and impaired membrane translocation of AKT that is required for AKT activation, in response to EGF stimulation.", "output": {"entities": {"gene": [{"text": "AKT", "start": 162, "end": 165}], "disease": [{"text": "translocation", "start": 198, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found that co-stimulating RA-FLSs with IL-17A and hypoxia did not appear to promote the epithelial-mesenchymal transition (EMT), but did increase cell motility.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 57, "end": 63}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "C/EBP-δ regulates VEGF-C autocrine signaling in lymphangiogenesis and metastasis of lung cancer through HIF-1α.", "output": {"entities": {"gene": [{"text": "C/EBP-δ", "start": 0, "end": 7}], "disease": [{"text": "lung cancer", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the Na +/K +-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.", "output": {"entities": {"gene": [{"text": "ATP1A3", "start": 45, "end": 51}], "disease": [{"text": "rapid-onset dystonia parkinsonism", "start": 72, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP1A3", "start": 45, "end": 51}, "tail": {"text": "rapid-onset dystonia parkinsonism", "start": 72, "end": 105}}]}}, "schema": []}
{"input": "The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 76, "end": 81}], "disease": [{"text": "WD", "start": 220, "end": 222}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 76, "end": 81}, "tail": {"text": "WD", "start": 220, "end": 222}}]}}, "schema": []}
{"input": "Identification of a potential \" hotspot \" DNA region in the RUNX1 gene targeted by mitoxantrone in therapy-related acute myeloid leukemia with t (16; 21) translocation.", "output": {"entities": {"gene": [{"text": "RUNX1 gene", "start": 60, "end": 70}], "disease": [{"text": "translocation", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these findings suggest down-regulation of Mcl-1 by either CDK inhibitors or genetic approaches dramatically potentiate ABT-737 lethality through cooperative interactions at two distinct levels: unleashing of Bak from both Bcl-xL and Mcl-1 and simultaneous induction of Bak activation and Bax translocation.", "output": {"entities": {"gene": [{"text": "Mcl-1", "start": 56, "end": 61}], "disease": [{"text": "translocation", "start": 306, "end": 319}]}, "relations": {}}, "schema": []}
{"input": "SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.", "output": {"entities": {"gene": [{"text": "SHANK3", "start": 0, "end": 6}], "disease": [{"text": "22q13 deletion syndrome", "start": 58, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SHANK3", "start": 0, "end": 6}, "tail": {"text": "22q13 deletion syndrome", "start": 58, "end": 81}}]}}, "schema": []}
{"input": "Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses.", "output": {"entities": {"gene": [{"text": "USH2", "start": 24, "end": 28}], "disease": [{"text": "high-frequency hearing impairment", "start": 69, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "SBI-0089410 inhibited the 12-O-tetradecanoylphorbol-l3-acetate (TPA)-induced membrane translocation of protein kinase C (PKC) isoforms, whereas both compounds decreased ATF2 phosphorylation by PKCε and ATF2 transcriptional activity.", "output": {"entities": {"gene": [{"text": "ATF2", "start": 169, "end": 173}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of the genes for pregnancy-associated plasma protein A (PAPPA), tomoregulin, cellular retinoid acid binding protein 1 (CRABP1), zinc finger protein 185 (ZFP 185) and latent transforming growth factor beta binding protein 2 (LTBP2) was demonstrated in individual leiomyoma samples compared with corresponding myometrium.", "output": {"entities": {"gene": [{"text": "tomoregulin", "start": 85, "end": 96}], "disease": [{"text": "leiomyoma", "start": 283, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "MAGE-C1/CT7 and MAGE-C2/CT10 were both detected in 40% of melanoma metastases.", "output": {"entities": {"gene": [{"text": "MAGE-C1", "start": 0, "end": 7}], "disease": [{"text": "metastases", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17.", "output": {"entities": {"gene": [{"text": "NBPF1", "start": 28, "end": 33}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "NNT mRNA expression is significantly higher in visceral fat of obese patients and correlates with body weight, BMI,% body fat, visceral and sc fat area, waist and hip circumference, and fasting plasma insulin (FPI).", "output": {"entities": {"gene": [{"text": "NNT", "start": 0, "end": 3}], "disease": [{"text": "hip circumference", "start": 163, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Influence of NQO1, ALDH2, and CYP2E1 genetic polymorphisms, smoking, and alcohol drinking on the risk of lung cancer in Koreans.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 19, "end": 24}], "disease": [{"text": "smoking", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.", "output": {"entities": {"gene": [{"text": "ALOXE3", "start": 27, "end": 33}], "disease": [{"text": "congenital ichthyosis", "start": 77, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALOXE3", "start": 27, "end": 33}, "tail": {"text": "congenital ichthyosis", "start": 77, "end": 98}}]}}, "schema": []}
{"input": "Meanwhile, treatment with quercetin induced appearance of autophagic vacuoles, formation of acidic vesicular organelles (AVOs), conversion of LC3-I to LC3-II, recruitment of LC3-II to the autophagosomes as well as activation of autophagy genes, suggesting that quercetin initiates the autophagic progression in gastric cancer cells.", "output": {"entities": {"gene": [{"text": "LC3", "start": 142, "end": 145}], "disease": [{"text": "autophagic vacuoles", "start": 58, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Although the exact mechanism is unknown, PTTG participates in the pathogenesis of various tumors, including pituitary tumors, by inducing aneuploidy and upregulating FGF-2, a potent mitogenic and angiogenic factor.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 41, "end": 45}], "disease": [{"text": "aneuploidy", "start": 138, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Computational analyses predicted a severe structural impairment for FtMt variant and a mild destabilizing effect for ABCA4.", "output": {"entities": {"gene": [{"text": "FtMt", "start": 68, "end": 72}], "disease": [{"text": "mild", "start": 87, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We found that IPost increased the formation of autophagic vacuoles, the autophagic-related protein levels of LC3-II, Beclin1, lysosome-associated membrane protein 2, and cathepsin D, and the mRNA level of LC3 and Beclin1 in the risk zone of the postconditioned hearts.", "output": {"entities": {"gene": [{"text": "LC3", "start": 109, "end": 112}], "disease": [{"text": "autophagic vacuoles", "start": 47, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We identified six novel associations with resting heart rate at six loci: 6q22 near GJA1; 14q12 near MYH7; 12p12 near SOX5, c12orf67, BCAT1, LRMP and CASC1; 6q22 near SLC35F1, PLN and c6orf204; 7q22 near SLC12A9 and UfSp1; and 11q12 near FADS1.", "output": {"entities": {"gene": [{"text": "PLN", "start": 176, "end": 179}], "disease": [{"text": "heart rate", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that ErbB3 might be considered as a biomarker for MDD and that its deficit may underlie the pathophysiology of the disease and is not a consequence of treatment.", "output": {"entities": {"gene": [{"text": "ErbB3", "start": 22, "end": 27}], "disease": [{"text": "MDD", "start": 67, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ErbB3", "start": 22, "end": 27}, "tail": {"text": "MDD", "start": 67, "end": 70}}]}}, "schema": []}
{"input": "These novel data demonstrate the role of HDAC2-mediated epigenetic mechanisms in anxiety and alcoholism.", "output": {"entities": {"gene": [{"text": "HDAC2", "start": 41, "end": 46}], "disease": [{"text": "alcoholism", "start": 93, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC2", "start": 41, "end": 46}, "tail": {"text": "alcoholism", "start": 93, "end": 103}}]}}, "schema": []}
{"input": "Use of reverse transcription-polymerase chain reaction methodology to detect estrogen-regulated gene expression in small breast cancer specimens.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 77, "end": 100}], "disease": [{"text": "breast cancer", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Three established human glioma cell lines, T98G, U87, and U138, were chemoresistant cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 49, "end": 52}], "disease": [{"text": "glioma", "start": 24, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "The major limitation of this meta-analysis is that we could not assess the interaction between stroke, environmental stress and PSD.", "output": {"entities": {"gene": [{"text": "PSD", "start": 128, "end": 131}], "disease": [{"text": "stroke", "start": 95, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The results revealed that the high resistance of genetically engineered IL-10-/-(IL-10KO) mice to genital chlamydial infection is a function of the predilection of their APCs to rapidly and preferentially activate a high Th1 response.", "output": {"entities": {"gene": [{"text": "Th1", "start": 221, "end": 224}], "disease": [{"text": "chlamydial infection", "start": 106, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the effect of topiramate on drinking behavior, in which the GluK1-containing kainate receptor appears to play a key role, can be dissociated from its effect on weight, the specific mechanism of which remains to be determined.", "output": {"entities": {"gene": [{"text": "GluK1", "start": 87, "end": 92}], "disease": [{"text": "weight", "start": 187, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "The tumor cells of the cholangiocarcinoma express an epidermal growth factor receptor which plays an important role in the pathogenesis of these tumors.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 53, "end": 85}], "disease": [{"text": "cholangiocarcinoma", "start": 23, "end": 41}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "epidermal growth factor receptor", "start": 53, "end": 85}, "tail": {"text": "cholangiocarcinoma", "start": 23, "end": 41}}]}}, "schema": []}
{"input": "Anti-Flt1 also reduced atherosclerotic plaque growth and vulnerability, but the atheroprotective effect was not attributable to reduced plaque neovascularization.", "output": {"entities": {"gene": [{"text": "Flt1", "start": 5, "end": 9}], "disease": [{"text": "plaque", "start": 39, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "In this study, we assessed whether the CDKN1B V109G polymorphism was associated with the development of aggressive tumours in 55 consecutive patients affected by MEN1.", "output": {"entities": {"gene": [{"text": "CDKN1B", "start": 39, "end": 45}], "disease": [{"text": "MEN1", "start": 162, "end": 166}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDKN1B", "start": 39, "end": 45}, "tail": {"text": "MEN1", "start": 162, "end": 166}}]}}, "schema": []}
{"input": "We assessed the expression of apoptosis genes (GSK3-B, AKT-1, Bcl-2), inflammatory cytokines (TNFalpha, TNF-RI, TNF-RII, IL-6, IL-6R), anti-inflammatory IL-10, CRP and alphaFP by reverse transcription-polymerase chain reaction (RT-PCR) in 33 HCC, 25 chronic hepatitis and 16 asymptomatic HCV carrier positive for HCV subjects.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 121, "end": 125}], "disease": [{"text": "asymptomatic", "start": 275, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "Mice deficient in Mct8 replicate the thyroid hormone abnormalities observed in the human condition.", "output": {"entities": {"gene": [{"text": "Mct8", "start": 18, "end": 22}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Our analysis allows to correlate BWS symptoms, like a protruding tongue, indented ears and transient neonatal hypoglycaemia, to an abnormal methylation at the KvDMR1.", "output": {"entities": {"gene": [{"text": "KvDMR1", "start": 159, "end": 165}], "disease": [{"text": "protruding tongue", "start": 54, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "All the PCOS had elevated body mass index, waist circumference, waist-to-hip ratio, fasting insulin, homeostatic model assessment (HOMA) score, and serum TNF-α when compared with controls (p < 0. 05).", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 154, "end": 159}], "disease": [{"text": "waist-to-hip ratio", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Cloning and structural analysis of cDNAs for bcl-2 and a hybrid bcl-2/immunoglobulin transcript resulting from the t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 45, "end": 50}], "disease": [{"text": "translocation", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Cyclooxygenase inhibitors decrease Sp1 expression in cancer cells, and therefore different structural classes of nonsteroidal anti-inflammatory drugs (NSAIDs) were screened for their ability to decrease levels of Sp1, Sp3, and Sp4 and to decrease pancreatic tumor growth and metastasis in an in vivo model.", "output": {"entities": {"gene": [{"text": "Sp4", "start": 227, "end": 230}], "disease": [{"text": "pancreatic tumor", "start": 247, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Treatment with the CDK4 inhibitor PD0332991 was associated with a favorable progression-free rate in patients with CDK4-amplified and RB-expressing WDLS/DDLS who had progressive disease despite systemic therapy.", "output": {"entities": {"gene": [{"text": "CDK4", "start": 19, "end": 23}], "disease": [{"text": "DDLS", "start": 153, "end": 157}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CDK4", "start": 19, "end": 23}, "tail": {"text": "DDLS", "start": 153, "end": 157}}]}}, "schema": []}
{"input": "Transactive response DNA-binding protein 43 a nuclear protein regulating RNA processing, redistributes to the cytoplasm and forms aggregates, which are the histopathological hallmark of sporadic amyotrophic lateral sclerosis, in affected motor neurons, suggesting that loss-of-function of transactive response DNA-binding protein 43 is one of the causes of the neurodegeneration.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 21, "end": 40}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 195, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have indicated that high-density lipoproteins (HDLs) and their major structural protein, apolipoprotein A1 (apoA1), recovered from human atheroma are dysfunctional and are extensively oxidized by myeloperoxidase (MPO).", "output": {"entities": {"gene": [{"text": "MPO", "start": 228, "end": 231}], "disease": [{"text": "atheroma", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Factor V Leiden and/or prothrombin G20210A mutation were much more prevalent in placental versus non-placental stillbirth women (OR 3. 06, 95% CI 1. 07-8. 7).", "output": {"entities": {"gene": [{"text": "Factor V Leiden", "start": 0, "end": 15}], "disease": [{"text": "stillbirth", "start": 111, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients.", "output": {"entities": {"gene": [{"text": "STIM1", "start": 64, "end": 69}], "disease": [{"text": "Stormorken syndrome", "start": 73, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STIM1", "start": 64, "end": 69}, "tail": {"text": "Stormorken syndrome", "start": 73, "end": 92}}]}}, "schema": []}
{"input": "We measured SYN and SYNJ1 in an autopsy series of 39 cases with DS and 28 without DS, along with 7 sporadic AD cases.", "output": {"entities": {"gene": [{"text": "SYN", "start": 12, "end": 15}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Suppression of STAT3 activation by a dominant negative molecule in MO7e leukemia cells transduced with mutant c-kit inhibits stem cell factor (SCF)-independent survival and proliferation, accompanied by the down-regulation of Bcl-x (L) and c-myc.", "output": {"entities": {"gene": [{"text": "SCF", "start": 143, "end": 146}], "disease": [{"text": "leukemia", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We have identified a novel H1736L missense mutation in the CACNA1A gene associated with the EA2 phenotype.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 59, "end": 66}], "disease": [{"text": "EA2", "start": 92, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 59, "end": 66}, "tail": {"text": "EA2", "start": 92, "end": 95}}]}}, "schema": []}
{"input": "Two of these trials were conducted without a molecular selection in patients with clinical characteristics (adenocarcinoma histology, never or light smoking) characterized by higher prevalence of EGFR mutation.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 196, "end": 200}], "disease": [{"text": "smoking", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Consequently, stabilization of Pdcd4 protein could provide a promising novel avenue for therapeutics targeting inflammation-associated tumors.", "output": {"entities": {"gene": [{"text": "Pdcd4", "start": 31, "end": 36}], "disease": [{"text": "inflammation", "start": 111, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Absent immuno-expression of LDH-B protein (& lt; 10% cells stained), was seen in 23/26 (88%) breast cancer cases, and in 4/8 cases of adjacent ductal carcinoma in situ lesions.", "output": {"entities": {"gene": [{"text": "LDH-B", "start": 28, "end": 33}], "disease": [{"text": "breast cancer", "start": 93, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LDH-B", "start": 28, "end": 33}, "tail": {"text": "breast cancer", "start": 93, "end": 106}}]}}, "schema": []}
{"input": "Most HCC are associated with chronic infection by Hepatitis B Virus while a G & #8594; T mutation at codon 249 of the TP53 gene, R249S, specific for exposure to aflatoxin, is detected in tumors for up to 30% of cases.", "output": {"entities": {"gene": [{"text": "TP53", "start": 118, "end": 122}], "disease": [{"text": "HCC", "start": 5, "end": 8}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TP53", "start": 118, "end": 122}, "tail": {"text": "HCC", "start": 5, "end": 8}}]}}, "schema": []}
{"input": "Systolic (SBP) and diastolic (DBP) blood pressures and heart rate (HR) were recorded in response to 250 mg of caffeine vs placebo (3 mg) during rest and during a stressful mental arithmetic task.", "output": {"entities": {"gene": [{"text": "DBP", "start": 30, "end": 33}], "disease": [{"text": "caffeine", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "At 24 h of reperfusion, the gp91 (phox)-/-and apocynin-treated mice showed 50% less brain infarction and 70% less cleaved spectrin compared with WT mice.", "output": {"entities": {"gene": [{"text": "gp91 (phox", "start": 28, "end": 38}], "disease": [{"text": "brain infarction", "start": 84, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gp91 (phox", "start": 28, "end": 38}, "tail": {"text": "brain infarction", "start": 84, "end": 100}}]}}, "schema": []}
{"input": "Thus, the 5-HT (4) receptor binding was decreased in the Flinders Sensitive Line depression model and in response to chronic paroxetine administration.", "output": {"entities": {"gene": [{"text": "5-HT (4", "start": 10, "end": 17}], "disease": [{"text": "depression", "start": 81, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (4", "start": 10, "end": 17}, "tail": {"text": "depression", "start": 81, "end": 91}}]}}, "schema": []}
{"input": "The associations between EGFR mutation and age, considering sex, smoking and histology, were evaluated using logistic regression models.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 25, "end": 29}], "disease": [{"text": "smoking", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the in vitro levels of Beclin-1, GRP78, and GADD153 proteins were increased with the prolongation of amino acid starvation (p < 0. 05).", "output": {"entities": {"gene": [{"text": "GRP78", "start": 43, "end": 48}], "disease": [{"text": "starvation", "start": 122, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Foxa2 is required for transition to air breathing at birth.", "output": {"entities": {"gene": [{"text": "Foxa2", "start": 0, "end": 5}], "disease": [{"text": "breathing", "start": 40, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "This study focused on developing, by in vivo MRI, strategies to measure the level of ER expression in an orthotopic mouse model of human breast cancer.", "output": {"entities": {"gene": [{"text": "MRI", "start": 45, "end": 48}], "disease": [{"text": "breast cancer", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Notably, giant, bizarre, and hypogranular promyelocytes expressing CD2, CD34, and HLA-DR appeared at the first relapse and became predominant at the second and third relapses.", "output": {"entities": {"gene": [{"text": "CD34", "start": 72, "end": 76}], "disease": [{"text": "giant", "start": 9, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "The current study was aimed to elucidate the association of thymidylate synthase (TYMS) 5'-UTR 28bp tandem repeat and cytosolic serine hydroxymethyltransferase (cSHMT) C1420T polymorphisms with acute leukemia in South Indian subjects.", "output": {"entities": {"gene": [{"text": "UTR", "start": 91, "end": 94}], "disease": [{"text": "acute leukemia", "start": 194, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Therefore, a cohort of 187 pure endometrioid and non-endometrioid endometrial carcinomas, carefully characterized as to clinical and pathological features, was examined for PTEN sequence abnormalities and the immunohistochemical expression of PTEN and the DNA mismatch repair proteins MLH1, MSH2, MSH6, and PMS2.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 297, "end": 301}], "disease": [{"text": "abnormalities", "start": 187, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "The frequency of each HLA-DRB1 allele in both groups was compared with that in 81 normally fertile Japanese women who had not experienced pre-eclampsia.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 22, "end": 30}], "disease": [{"text": "pre-eclampsia", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND: Single nucleotide polymorphisms (SNPs) rs1035798 in RAGE gene, rs2073617 and rs2073618 in TNFRSF11B, and rs3732410 in Golgb1 will be investigated on whether there is an association with hemorrhagic stroke (HS) in Chinese population.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 64, "end": 68}], "disease": [{"text": "hemorrhagic stroke", "start": 198, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "The behavioral phenotype of pituitary adenylate-cyclase activating polypeptide-deficient mice in anxiety and depression tests is accompanied by blunted c-Fos expression in the bed nucleus of the stria terminalis, central projecting Edinger-Westphal nucleus, ventral lateral septum, and dorsal raphe nucleus.", "output": {"entities": {"gene": [{"text": "pituitary adenylate-cyclase activating polypeptide", "start": 28, "end": 78}], "disease": [{"text": "depression", "start": 109, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pituitary adenylate-cyclase activating polypeptide", "start": 28, "end": 78}, "tail": {"text": "depression", "start": 109, "end": 119}}]}}, "schema": []}
{"input": "We have discussed insulin receptor substrate-family (IRS) related to insulin resistance, detail downstream signaling effects, GLUT4 vesicle translocation and related events, cytokine-mediated insulin resistance, and feedback control mechanisms.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 18, "end": 34}], "disease": [{"text": "translocation", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Common measures of hematological traits include red blood cell (RBC) count, hemoglobin concentration (HGB), hematocrit (HCT), mean corpuscular hemoglobin (MCH), MCH concentration (MCHC), mean corpuscular volume (MCV), platelet count (PLT) and white blood cell (WBC) count.", "output": {"entities": {"gene": [{"text": "MCH", "start": 155, "end": 158}], "disease": [{"text": "mean corpuscular volume", "start": 187, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "The expression pattern of the tight-junction proteins claudin 1-4 and occludin in the esophageal mucosa was investigated by immunofluorescence staining and Western blotting in the controls and esophagitis rats.", "output": {"entities": {"gene": [{"text": "occludin", "start": 70, "end": 78}], "disease": [{"text": "esophagitis", "start": 193, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "The renal tissue from patients with MGN, MCD, focal segmental glomerulosclerosis, acute tubulointerstitial nephritis, diabetic nephropathy, immunoglobulin (Ig) A nephropathy, hypertensive nephrosclerosis, IgM nephropathy, amyloidosis and glomerulosclerosis were studied for the expression of cytokines (tumor necrosis factor, [TNF]-alpha, interleukin [IL]-1 beta, IL-2, IL-4, IL-8 and IL-10) by reverse transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 385, "end": 390}], "disease": [{"text": "acute tubulointerstitial nephritis", "start": 82, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.", "output": {"entities": {"gene": [{"text": "Fas", "start": 0, "end": 3}], "disease": [{"text": "Canale-Smith syndrome", "start": 26, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Fas", "start": 0, "end": 3}, "tail": {"text": "Canale-Smith syndrome", "start": 26, "end": 47}}]}}, "schema": []}
{"input": "Using enzyme-linked immunosorbent assay (ELISA) dosages, quantitative PCR (qPCR), immunohistochemistry, and flow cytometry, we studied the role of interleukin-33 (IL-33), a recently described cytokine signaling through the ST2 receptor, during visceral leishmaniasis.", "output": {"entities": {"gene": [{"text": "ST2", "start": 223, "end": 226}], "disease": [{"text": "visceral leishmaniasis", "start": 244, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "The identification of novel associations for hair morphology (rs17646946, near TCHH; rs7349332, near WNT10A; and rs1556547, near OFCC1), freckling (rs2153271, in BNC2), the ability to smell the methanethiol produced after eating asparagus (rs4481887, near OR2M7), and photic sneeze reflex (rs10427255, near ZEB2, and rs11856995, near NR2F2) illustrates the power of the approach.", "output": {"entities": {"gene": [{"text": "NR2F2", "start": 334, "end": 339}], "disease": [{"text": "photic sneeze reflex", "start": 268, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "These studies point out that ABL is associated with the absence of both triglyceride and phospholipid transfer activities in MTP.", "output": {"entities": {"gene": [{"text": "MTP", "start": 125, "end": 128}], "disease": [{"text": "ABL", "start": 29, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTP", "start": 125, "end": 128}, "tail": {"text": "ABL", "start": 29, "end": 32}}]}}, "schema": []}
{"input": "Except for infertility and hyperthyroidism, unclassified variant-linked ovarian tumours share features with sporadic tumours rather than with BRCA1 pathogenic mutations.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 142, "end": 147}], "disease": [{"text": "infertility", "start": 11, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "The shoulder regions of plaques contained numerous ACE-positive macrophage foam cells and lymphocytes.", "output": {"entities": {"gene": [{"text": "ACE", "start": 51, "end": 54}], "disease": [{"text": "foam cells", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that miR-9 suppresses the expression of cyclin D1 and Ets1 via the binding sites in their 3'-UTR, thus inhibiting the proliferation, invasion and metastasis of gastric cancer.", "output": {"entities": {"gene": [{"text": "UTR", "start": 113, "end": 116}], "disease": [{"text": "metastasis", "start": 166, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Several studies have examined the prognostic value of the TP53 Arg72Pro polymorphism (rs1042522) and/or MDM2 SNP309 (rs2279744) in multiple tumors.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 104, "end": 108}], "disease": [{"text": "multiple tumors", "start": 131, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The t (8; 21) (q22; q22) translocation is the most common chromosomal translocation in acute myeloid leukemia (AML), and it gives rise to acute myeloid gene 1 (AML1)-myeloid transforming gene 8 (ETO)-positive AML, which has a relatively favorable prognosis.", "output": {"entities": {"gene": [{"text": "AML1", "start": 160, "end": 164}], "disease": [{"text": "chromosomal translocation", "start": 58, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Using this model, we demonstrated that in the context of infection with influenza, NECs obtained from smokers create an overall cytokine microenvironment that suppresses the interferon-mediated Th1 response and enhances the TSLP-TARC-mediated Th2 response, with the potential to modify the responses of DCs.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 224, "end": 228}], "disease": [{"text": "influenza", "start": 72, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Transcription factor 7-like 2 (TCF7L2) regulates activin receptor-like kinase 1 (ALK1)/Smad1 pathway for development of diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 87, "end": 92}], "disease": [{"text": "diabetic nephropathy", "start": 120, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The infarct to normal heart ratio of Alfatide II tracer for the three treatment groups was significantly higher than that of the control group (3. 94 ± 0. 20 for VEGF group, 3. 77 ± 0. 16 for BMSCs group and 4. 86 ± 0. 08 for the combination group vs. 3. 01 ± 0. 03 for the control group, P < 0. 005, P < 0. 005, P < 0. 0001, respectively).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 162, "end": 166}], "disease": [{"text": "infarct", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "The age, sex, smoking and drinking status adjusted odds ratio for the ALDH2 Glu/Lys and Lys/Lys genotypes as compared with the Glu/Glu genotype was 3. 43 (95% CI 1. 74-6. 75).", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 70, "end": 75}], "disease": [{"text": "smoking", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Three complementary DNA encoding S19 ribosomal protein (S19), laminin-binding protein (LBP), and HLA class I (HLA-I) genes were isolated from a colon tumor-enriched subtraction library.", "output": {"entities": {"gene": [{"text": "S19", "start": 33, "end": 36}], "disease": [{"text": "colon tumor", "start": 144, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "This was confirmed by enzyme-linked immunosorbent assay in HFpEF patients and controls, and serum IL-16 levels showed a significant association with indices of LV diastolic dysfunction.", "output": {"entities": {"gene": [{"text": "IL-16", "start": 98, "end": 103}], "disease": [{"text": "diastolic dysfunction", "start": 163, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "In contrast to astrocytic brain tumors, which show frequent loss of the p16 gene and amplification of the CDK4 gene, alteration of these genes appears to be rare in other neoplasms of the human nervous system.", "output": {"entities": {"gene": [{"text": "p16 gene", "start": 72, "end": 80}], "disease": [{"text": "nervous system", "start": 194, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "In order to test whether mild undiagnosed CAH is a common predisposing factor, we screened 27 patients with sporadic adrenocortical tumours for CYP21 mutations.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 144, "end": 149}], "disease": [{"text": "mild", "start": 25, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer & #160; Susceptibility.", "output": {"entities": {"gene": [{"text": "SMARCAD1", "start": 0, "end": 8}], "disease": [{"text": "Huriez Syndrome", "start": 38, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCAD1", "start": 0, "end": 8}, "tail": {"text": "Huriez Syndrome", "start": 38, "end": 53}}]}}, "schema": []}
{"input": "This study was carried out to investigate mammary tumorigenesis in growth hormone (GH) deficient spontaneous dwarf rats (SDR).", "output": {"entities": {"gene": [{"text": "SDR", "start": 121, "end": 124}], "disease": [{"text": "dwarf", "start": 109, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Importantly, co-overexpression of Sox2 and activated Stat3 (Stat3C) also transforms esophageal basal cells but not the differentiated suprabasal cells.", "output": {"entities": {"gene": [{"text": "Stat3", "start": 53, "end": 58}], "disease": [{"text": "esophageal", "start": 84, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the Th1 chemokines IP10 and Mig as well as their receptor CXCR3 are potential targets for therapeutic interventions in ischemic nephropathy.", "output": {"entities": {"gene": [{"text": "Th1", "start": 32, "end": 35}], "disease": [{"text": "ischemic nephropathy", "start": 147, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "High levels of MBL are present in the uterine luminal fluid of sterile women, and possible functions for TWEAK and MBL in human implantation are indicated by their protein and mRNA expression in uterine biopsies from infertile and fertile individuals.", "output": {"entities": {"gene": [{"text": "MBL", "start": 15, "end": 18}], "disease": [{"text": "infertile", "start": 217, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "The expression pattern of the tight-junction proteins claudin 1-4 and occludin in the esophageal mucosa was investigated by immunofluorescence staining and Western blotting in the controls and esophagitis rats.", "output": {"entities": {"gene": [{"text": "claudin 1", "start": 54, "end": 63}], "disease": [{"text": "esophagitis", "start": 193, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Targeted knockdown of death-associated protein kinase expression induces TRAIL-mediated apoptosis in human endometrial adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 73, "end": 78}], "disease": [{"text": "endometrial adenocarcinoma", "start": 107, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Decreased inhibitor of growth 5 expression was detected by immunohistochemistry in colorectal carcinoma, compared with non-neoplastic mucosa and adenoma (P <. 05).", "output": {"entities": {"gene": [{"text": "inhibitor of growth 5", "start": 10, "end": 31}], "disease": [{"text": "non-neoplastic", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Association between ACE genotype and ARDS was evaluated as the primary outcome; mortality and severe hypoxemia were examined as secondary outcomes.", "output": {"entities": {"gene": [{"text": "ACE", "start": 20, "end": 23}], "disease": [{"text": "hypoxemia", "start": 101, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In a murine thrombocytopenia model, levels of CD40L, CXCL5, CCL5 and EGF decreased with platelet count after immune-mediated destruction, while the cytokine levels increased when the platelet count recovered.", "output": {"entities": {"gene": [{"text": "CXCL5", "start": 53, "end": 58}], "disease": [{"text": "thrombocytopenia", "start": 12, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "There was a significant increase in both TLR2 and TLR4 surface expression and mRNA levels on monocytes after adjustment for age, body mass index, and waist-to-hip ratio.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 41, "end": 45}], "disease": [{"text": "waist-to-hip ratio", "start": 150, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In addition, this FTO SNP influenced fasting insulin (P = 0. 011), homeostasis model assessment of insulin resistance (P = 0. 038), and an insulin sensitivity index derived from an oral glucose tolerance test (P = 0. 0091).", "output": {"entities": {"gene": [{"text": "FTO", "start": 18, "end": 21}], "disease": [{"text": "insulin resistance", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The transmembrane glycoprotein NSP4 functions as a viral enterotoxin capable of inducing diarrhea in young mice.", "output": {"entities": {"gene": [{"text": "transmembrane glycoprotein", "start": 4, "end": 30}], "disease": [{"text": "diarrhea", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In addition, we identified an ADOA patient who is a compound heterozygote for two OPA1 missense mutations.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 82, "end": 86}], "disease": [{"text": "ADOA", "start": 30, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 82, "end": 86}, "tail": {"text": "ADOA", "start": 30, "end": 34}}]}}, "schema": []}
{"input": "pS2/TFF1 is a pleiotropic factor involved in mucin polymerization, cell motility, cell proliferation and/or differentiation, and possibly in the nervous system.", "output": {"entities": {"gene": [{"text": "TFF1", "start": 4, "end": 8}], "disease": [{"text": "nervous system", "start": 145, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "In addition, CA treatment decreased HIF-1α protein expression and vascular endothelial growth factor (VEGF) expression in mouse tumors and Renca cells exposed to hypoxia in vitro.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 102, "end": 106}], "disease": [{"text": "hypoxia", "start": 162, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Rassf1a knockout mice displayed clinical symptoms of inflammatory bowel disease including: increased intestinal permeability, enhanced cytokine/chemokine production, elevated nuclear factor of kappa light polypeptide gene enhancer in B-cells (NF & #954; B) activity, elevated colonic cell death and epithelial cell injury.", "output": {"entities": {"gene": [{"text": "Rassf1a", "start": 0, "end": 7}], "disease": [{"text": "inflammatory bowel disease", "start": 53, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rassf1a", "start": 0, "end": 7}, "tail": {"text": "inflammatory bowel disease", "start": 53, "end": 79}}]}}, "schema": []}
{"input": "Taken together with the present endolymphatic sac tumor (ELST) study, it is suggested that disorder of V2R signaling in the endolymphatic sac for any reason could be involved in the pathogenesis of endolymphatic hydrops.", "output": {"entities": {"gene": [{"text": "V2R", "start": 103, "end": 106}], "disease": [{"text": "endolymphatic sac tumor", "start": 32, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We conclude that mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members.", "output": {"entities": {"gene": [{"text": "MEGF8", "start": 30, "end": 35}], "disease": [{"text": "Carpenter syndrome", "start": 44, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEGF8", "start": 30, "end": 35}, "tail": {"text": "Carpenter syndrome", "start": 44, "end": 62}}]}}, "schema": []}
{"input": "However, the expression of miR-183 in the progression of benign liver diseases to HCC and its correlation with clinicopathologic factors remain undefined.", "output": {"entities": {"gene": [{"text": "HCC", "start": 82, "end": 85}], "disease": [{"text": "liver diseases", "start": 64, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Several recent studies have reported a sex difference in the impact of COMT genotype on psychiatric and cognitive phenotypes and personality traits.", "output": {"entities": {"gene": [{"text": "COMT", "start": 71, "end": 75}], "disease": [{"text": "personality traits", "start": 129, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Expression of IL-1beta, IL-8, IL-10, IL-15 and TNF-alpha occurred in both cardiac sarcoidosis and DCM patients, but IL-4 and IL-5 were not detected in either disease.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 30, "end": 35}], "disease": [{"text": "cardiac sarcoidosis", "start": 74, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 115, "end": 120}], "disease": [{"text": "Beare-Stevenson syndrome", "start": 149, "end": 173}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 115, "end": 120}, "tail": {"text": "Beare-Stevenson syndrome", "start": 149, "end": 173}}]}}, "schema": []}
{"input": "Interestingly, the British and Turkish patients had complex III deficiency, whereas in the Finnish patients with GRACILE syndrome complex III activity was within the normal range, implying that BCS1L has another cellular function that is uncharacterized but essential and is putatively involved in iron metabolism.", "output": {"entities": {"gene": [{"text": "BCS1L", "start": 194, "end": 199}], "disease": [{"text": "GRACILE syndrome", "start": 113, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCS1L", "start": 194, "end": 199}, "tail": {"text": "GRACILE syndrome", "start": 113, "end": 129}}]}}, "schema": []}
{"input": "This data suggests that there is a genetic predisposition to proliferative retinopathy in Type 2 (non-insulin-dependent) diabetes of South Indian origin and that this is determined by polymorphism of the heavy chain immunoglobulin genes located on chromosome 14.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 204, "end": 215}], "disease": [{"text": "retinopathy", "start": 75, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Varicella was the underlying condition in 8 of 37 (22%) patients identified and was often associated with severe GAS disease, including toxic shock-like syndrome.", "output": {"entities": {"gene": [{"text": "GAS", "start": 113, "end": 116}], "disease": [{"text": "toxic shock", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In a multivariable model that included only the most statistically significant findings from univariable modeling and adjusted for pigmentary phenotype, back nevi, and baseline features, we found TERT/CLPTM1L rs401681 (P = 0. 004), TYRP1 rs2733832 (P = 0. 006), MTAP rs1335510 (P = 0. 0005), TYR rs10830253 (P = 0. 003), and MX2 rs45430 (P = 0. 008) to be significantly associated with multiple primary melanoma, while NCOA6 rs4911442 approached significance (P = 0. 06).", "output": {"entities": {"gene": [{"text": "TYR", "start": 232, "end": 235}], "disease": [{"text": "nevi", "start": 158, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Inner retinal laminar abnormalities, as in other human photoreceptor diseases, can be a feature of ABCA4-RD.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 99, "end": 104}], "disease": [{"text": "abnormalities", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "The A allele of the TNF-alpha-308G > A gene polymorphism and the presence of α2-thal3. 7 kb were associated with an increase risk of splenic sequestration events (p =. 001; p =. 046), while the T allele of the IL-8-251A > T gene polymorphism was considered to be a protective factor for splenomegaly events (p =. 032).", "output": {"entities": {"gene": [{"text": "T gene", "start": 222, "end": 228}], "disease": [{"text": "splenomegaly", "start": 287, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "We previously mapped a Seckel syndrome locus to chromosome 18p11. 31-q11. 2 (SCKL2).", "output": {"entities": {"gene": [{"text": "SCKL2", "start": 77, "end": 82}], "disease": [{"text": "Seckel syndrome", "start": 23, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCKL2", "start": 77, "end": 82}, "tail": {"text": "Seckel syndrome", "start": 23, "end": 38}}]}}, "schema": []}
{"input": "MAD1L1 is a checkpoint gene, and its dysfunction is associated with chromosomal instability.", "output": {"entities": {"gene": [{"text": "MAD1L1", "start": 0, "end": 6}], "disease": [{"text": "chromosomal instability", "start": 68, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Participants with genotype combinations GC/CC/GG/GG and GG/CT/GG/GG (DDX39B-22/DDX39B-348/TNF-308/IL6-176) had decreased and increased risk of mild malaria, respectively, compared with asymptomatic and uninfected participants.", "output": {"entities": {"gene": [{"text": "IL6", "start": 98, "end": 101}], "disease": [{"text": "asymptomatic", "start": 185, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "When the cells were exposed to heat shock in the presence of fisetin, the induction of HSF1 target proteins, such as HSP70, HSP27 and BAG3 (Bcl-2-associated athanogene domain 3), were inhibited.", "output": {"entities": {"gene": [{"text": "HSP27", "start": 124, "end": 129}], "disease": [{"text": "shock", "start": 36, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "In experimental and clinical neuroblastoma NESP55 immunoreactivity was specific for regions of chronic hypoxia.", "output": {"entities": {"gene": [{"text": "NESP55", "start": 43, "end": 49}], "disease": [{"text": "hypoxia", "start": 103, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NESP55", "start": 43, "end": 49}, "tail": {"text": "hypoxia", "start": 103, "end": 110}}]}}, "schema": []}
{"input": "Serum starvation activates several mitogen-activated protein kinases, but activation of Erk-1/2 is critical for the up-regulation of VEGF mRNA in colon carcinoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 133, "end": 137}], "disease": [{"text": "starvation", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that common allelic variants in CEBPA and CEBPB could influence abdominal obesity and related metabolic abnormalities associated with type 2 diabetes and cardiovascular disease in healthy White Northern European families, although results require independent confirmation.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 55, "end": 60}], "disease": [{"text": "abnormalities", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that PSGL-1 is a crucial adhesion molecule for the recruitment of monocytes into adipose tissues in obese mice, making it a candidate for a novel therapeutic target for the prevention of obesity-related insulin resistance.", "output": {"entities": {"gene": [{"text": "PSGL-1", "start": 28, "end": 34}], "disease": [{"text": "insulin resistance", "start": 226, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, exposure to hypoxia reduced CTGF synthesis in response to TGF-beta.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 71, "end": 79}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "These results show that expression of the human GPI-anchored CEACAM family genes predisposes mice to acquire and/or retain essential mutations necessary for sporadic colon tumor development.", "output": {"entities": {"gene": [{"text": "GPI", "start": 48, "end": 51}], "disease": [{"text": "sporadic", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.", "output": {"entities": {"gene": [{"text": "ARMC4", "start": 0, "end": 5}], "disease": [{"text": "primary ciliary dyskinesia", "start": 22, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARMC4", "start": 0, "end": 5}, "tail": {"text": "primary ciliary dyskinesia", "start": 22, "end": 48}}]}}, "schema": []}
{"input": "LHX4, a LIM-homeodomain transcription factor, is required for development of the pituitary and nervous system.", "output": {"entities": {"gene": [{"text": "LIM", "start": 8, "end": 11}], "disease": [{"text": "nervous system", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "This could elevate blood pressure by increasing the expression of WNK4 thereby stimulating inappropriate salt retention in the kidney by promoting activation of the NCC/NKCC2 ion co-transporters.", "output": {"entities": {"gene": [{"text": "NCC", "start": 165, "end": 168}], "disease": [{"text": "blood pressure", "start": 19, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Relative numbers of DLX1-and SHOX2-positive neurons in patients with schizophrenia and bipolar disorder with history of psychosis compared with psychiatric and nonpsychiatric controls.", "output": {"entities": {"gene": [{"text": "DLX1", "start": 20, "end": 24}], "disease": [{"text": "bipolar disorder", "start": 87, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DLX1", "start": 20, "end": 24}, "tail": {"text": "bipolar disorder", "start": 87, "end": 103}}]}}, "schema": []}
{"input": "Expressions of VEGF mRNA in cultured glioblastomas cells were upregulated by hypoxia, but the sensitivity of the cells to hypoxia was reduced as compared with normal rat astrocytes.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 15, "end": 19}], "disease": [{"text": "hypoxia", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "It was found that the substitution levels from G to A and from G to C in the TNF-α and IL-6 genes, respectively, were significantly higher in the infertile subjects as compared to that of control group.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 87, "end": 91}], "disease": [{"text": "infertile", "start": 146, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that the NFI family of transcription factors plays a key role in the regulation of both the B-FABP and GFAP genes in malignant glioma cells.", "output": {"entities": {"gene": [{"text": "NFI", "start": 27, "end": 30}], "disease": [{"text": "malignant glioma", "start": 135, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "TNF-308A was associated with susceptibility to multibacillary leprosy.", "output": {"entities": {"gene": [{"text": "TNF", "start": 0, "end": 3}], "disease": [{"text": "multibacillary leprosy", "start": 47, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "CTSK markers were genotyped in approximately 3000 perimenopausal Scottish women whose hip and spine bone mineral density (BMD) had been measured by DXA.", "output": {"entities": {"gene": [{"text": "CTSK", "start": 0, "end": 4}], "disease": [{"text": "bone mineral density", "start": 100, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "There was a significant parallel decrease in ACE2 protein expression, determined by immunohistochemistry, in proximal tubules, a pattern not found in 12 patients with focal glomerulosclerosis or 10 patients with chronic allograft nephropathy.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 45, "end": 49}], "disease": [{"text": "chronic allograft nephropathy", "start": 212, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "SLIT3 duplication is a novel association which explains a definitive proportion of the largely unknown etiology of MDD.", "output": {"entities": {"gene": [{"text": "SLIT3", "start": 0, "end": 5}], "disease": [{"text": "MDD", "start": 115, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLIT3", "start": 0, "end": 5}, "tail": {"text": "MDD", "start": 115, "end": 118}}]}}, "schema": []}
{"input": "Mutation of human homologues of DNA mismatch repair (MMR) genes in tumours has been shown to be associated with the phenomenon of microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 53, "end": 56}], "disease": [{"text": "microsatellite instability", "start": 130, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined-CPHD; isolated GH deficiency-GHD).", "output": {"entities": {"gene": [{"text": "PROP1", "start": 42, "end": 47}], "disease": [{"text": "pituitary hormone deficiency", "start": 124, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "As COMT and PRODH are both located on chromosome 22q11, the results also argue against the hypothesis that schizophrenia is associated with a decrease in expression of all 22q11 genes, as had been suggested by the high prevalence of psychosis in people with hemizygous 22q11 deletions.", "output": {"entities": {"gene": [{"text": "PRODH", "start": 12, "end": 17}], "disease": [{"text": "psychosis", "start": 233, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Chromosome 12p fluorescence in situ hybridization combined with OCT4, CD30, and glypican 3 immunostains is useful in confirming the diagnosis of ovarian embryonal carcinoma.", "output": {"entities": {"gene": [{"text": "OCT4", "start": 64, "end": 68}], "disease": [{"text": "ovarian embryonal carcinoma", "start": 145, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In addition, our case allowed us to define with more precision the smallest region of overlap (SRO) in all patients reported so far, encompassing only the CREBBP gene, and is useful to confirm and further define the phenotypic characteristics due to duplication of the CREBBP gene, being the first case of interstitial duplication with microcephaly and growth defects reported to date.", "output": {"entities": {"gene": [{"text": "SRO", "start": 95, "end": 98}], "disease": [{"text": "microcephaly", "start": 336, "end": 348}]}, "relations": {}}, "schema": []}
{"input": "Therapy-related myelodysplastic/myeloproliferative neoplasms with del (5q) and t (1; 11) (p32; q23) lacking MLL rearrangement.", "output": {"entities": {"gene": [{"text": "p32", "start": 90, "end": 93}], "disease": [{"text": "myelodysplastic/myeloproliferative neoplasms", "start": 16, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Using RNA-Sequencing and the' grep' command to search the fastq files of the sequence data we found that the translocation resulted in fusion of the genes KAT6B (10q22) with KANSL1 (17q21).", "output": {"entities": {"gene": [{"text": "KANSL1", "start": 174, "end": 180}], "disease": [{"text": "translocation", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Leukemia-associated fusion protein AML1-ETO is a product of the chromosome translocation (8; 21) frequently occurred in acute myeloid leukemia (AML).", "output": {"entities": {"gene": [{"text": "AML1", "start": 35, "end": 39}], "disease": [{"text": "chromosome translocation", "start": 64, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Flavocoxid reduced prostate weight and hyperplasia, blunted inducible expression of COX-2 and 5-LOX as well as the increased production of PGE (2) and leukotriene B (4) (LTB (4)), enhanced pro-apoptotic Bax and caspase-9 and decreased the anti-apoptotic Bcl-2 mRNA.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 254, "end": 259}], "disease": [{"text": "weight", "start": 28, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Our results support CSF2RB as a risk factor common to both schizophrenia and major depression in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "CSF2RB", "start": 20, "end": 26}], "disease": [{"text": "major depression", "start": 77, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CSF2RB", "start": 20, "end": 26}, "tail": {"text": "major depression", "start": 77, "end": 93}}]}}, "schema": []}
{"input": "Inhibition of angiogenesis by cigarette smoke in vitro and in vivo was associated with a reduced expression of hypoxia-inducible factor-1alpha (HIF-1alpha) and vascular endothelial growth factor (VEGF) in hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 196, "end": 200}], "disease": [{"text": "hypoxic", "start": 205, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Sp1 regulates osteopontin expression in SW480 human colon adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 0, "end": 3}], "disease": [{"text": "colon adenocarcinoma", "start": 52, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Production by small-cell carcinoma (SCCL) of neurophysins (HNPs) and neurophysin-related cell-surface antigen (NRSA) was examined for two cell lines, for mouse xenografts, and for a resected human tumor, using polyclonal and monoclonal antibodies to vasopressin-associated human neurophysin (VP-HNP) and polyclonal antibodies to vasopressin (VP).", "output": {"entities": {"gene": [{"text": "HNP", "start": 59, "end": 62}], "disease": [{"text": "carcinoma", "start": 25, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Previous in vitro studies on prostate cancer cells suggest a role for PAR-2 in prostate cancer metastasis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 70, "end": 73}], "disease": [{"text": "metastasis", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "CNP and cANF (4-23) reduced infarct size after 25 minutes of global ischemia and 120 minutes of reperfusion, maintaining CPP and left ventricular pressure at preischemic values.", "output": {"entities": {"gene": [{"text": "CNP", "start": 0, "end": 3}], "disease": [{"text": "infarct", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "The chromosomal translocation t (X; 18) (p11. 2; q11. 2) is tightly linked to the tumorigenesis of synovial sarcoma.", "output": {"entities": {"gene": [{"text": "p11", "start": 41, "end": 44}], "disease": [{"text": "tumorigenesis", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Stepwise multiple linear regression indicated that age (P = 0 · 001), body mass index (P < 0 · 001), waist-hip ratio (P = 0 · 032), smoking habits (P = 0 · 001), night-time systolic BP (P = 0 · 040), total cholesterol (P = 0 · 005) and CRP rs3093077 polymorphism (P < 0 · 001) were independently associated with serum hs-CRP levels.", "output": {"entities": {"gene": [{"text": "CRP", "start": 236, "end": 239}], "disease": [{"text": "waist-hip ratio", "start": 101, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We also observed a reciprocal relationship between HIF-1alpha and HIF-2alpha expression in hypoxia in these cells: HIF-2alpha siRNA enhanced HIF-1alpha-mediated VEGF expression in MCF-7 cells in response to hypoxia, which could be completely blocked by cotransfection with HIF-1alpha siRNA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 161, "end": 165}], "disease": [{"text": "hypoxia", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The TAP2 codons 379 isoleucine carriers and LMP7 codons 145 lysine carriers were found to be more susceptible to esophageal carcinoma (OR = 2. 74, 95% CI = 1. 15-6. 49, P = 0. 023 for TAP2; OR = 2. 19, 95% CI = 1. 09-4. 37, P = 0. 027 for LMP7).", "output": {"entities": {"gene": [{"text": "TAP2", "start": 4, "end": 8}], "disease": [{"text": "esophageal carcinoma", "start": 113, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The crude and adjusted hazard ratios in univariate and multivariate Cox regression models showed almost 2-folds to 3-folds risk for overall survival against mutant genotypes of tag-SNPs of FOXP3 (rs2232365 and rs3761548) and NF-kB1 (rs28362491 and rs696) genes.", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 189, "end": 194}], "disease": [{"text": "regression", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The t (2; 5) (p23; q35) chromosome translocation was demonstrated as part of a complex karyotypic alteration by classic banding and spectral karyotyping (SKY) analyses.", "output": {"entities": {"gene": [{"text": "SKY", "start": 154, "end": 157}], "disease": [{"text": "chromosome translocation", "start": 24, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Western blot analysis suggested an up-regulation of CB1R in the dentate gyrus of animals with TLE.", "output": {"entities": {"gene": [{"text": "CB1R", "start": 52, "end": 56}], "disease": [{"text": "TLE", "start": 94, "end": 97}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CB1R", "start": 52, "end": 56}, "tail": {"text": "TLE", "start": 94, "end": 97}}]}}, "schema": []}
{"input": "In DNA mismatch repair (MMR)-deficient colorectal cancers that exhibit the microsatellite instability (MSI) phenotype, biallelic frameshift mutations in the transforming growth factor β receptor type 2 (TGFBR2) gene occur at high frequency that lead to altered signal transduction and downstream target gene expression.", "output": {"entities": {"gene": [{"text": "MMR", "start": 24, "end": 27}], "disease": [{"text": "microsatellite instability", "start": 75, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "To provide a base for examining the role of Runx1 in leukemogenesis, we investigated the effects of transient expression of a human RUNX1-CBF2T1 transgene [product of the t (8; 21) translocation in acute myeloid leukemia] in zebrafish embryos.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 132, "end": 137}], "disease": [{"text": "translocation", "start": 181, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "In cultured cells, KOR-SA3544 reacted with Ph1-positive ALL cell lines (5/5) and leukemic cell lines with 11q23 translocation (3/11).", "output": {"entities": {"gene": [{"text": "KOR", "start": 19, "end": 22}], "disease": [{"text": "translocation", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Among the cognate genes, six including ALG8, DGKE, GNA12, KLF11, LRPAP1, and MMAB are related to multiple genetic diseases such as depressive disorder and Type-II diabetes.", "output": {"entities": {"gene": [{"text": "MMAB", "start": 77, "end": 81}], "disease": [{"text": "depressive disorder", "start": 131, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMAB", "start": 77, "end": 81}, "tail": {"text": "depressive disorder", "start": 131, "end": 150}}]}}, "schema": []}
{"input": "In this study, expression patterns of 15 widely used endogenous RGs (ACTB, TBP, GAPDH, SDHA, HPRT, HMBS, B2M, PPIA, GUSB, YWHAZ2, PGK1, RPLP0, PUM1, MRPL19, and RPL41), and three candidate genes that were selected through analysis of two independent microarray datasets (IL22RA1, TC22, ZNF224) were determined in 23 primary breast tumors and their matched normal tissues using qRT-PCR.", "output": {"entities": {"gene": [{"text": "IL22RA1", "start": 271, "end": 278}], "disease": [{"text": "breast tumors", "start": 324, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "Because these molecular abnormalities occur in disease-and motor neuron-specific fashion and induce fatal epilepsy in mice, we have hypothesized that GluR2 Q/R site-underediting due to ADAR2 underactivity is a cause of neuronal death in sporadic ALS.", "output": {"entities": {"gene": [{"text": "GluR2", "start": 150, "end": 155}], "disease": [{"text": "abnormalities", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome.", "output": {"entities": {"gene": [{"text": "connexin 30", "start": 79, "end": 90}], "disease": [{"text": "Clouston syndrome", "start": 116, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "connexin 30", "start": 79, "end": 90}, "tail": {"text": "Clouston syndrome", "start": 116, "end": 133}}]}}, "schema": []}
{"input": "Here we report the first Tunisian patients: 2 sisters with homozygous NLRP7 mutations (p. E570X) and 1 sporadic case with no mutation in NLRP7.", "output": {"entities": {"gene": [{"text": "NLRP7", "start": 70, "end": 75}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene.", "output": {"entities": {"gene": [{"text": "MECP2 gene", "start": 157, "end": 167}], "disease": [{"text": "encephalopathy, myoclonic", "start": 46, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "This ratio along with Northern blot analysis of muscle specific marker genes such as beta-MHC, MLC-2 and ANF, and the induction of promoter activity of beta-MHC and c-fos genes monitored using chloramphenicol acetyl transferase as a reporter gene confirmed the induction of cardiac hypertrophy upon direct injection of the full-length cDNA of 182 kDa protein.", "output": {"entities": {"gene": [{"text": "ANF", "start": 105, "end": 108}], "disease": [{"text": "cardiac hypertrophy", "start": 274, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Fine mapping by genetic association implicates the chromosome 1q23. 3 gene UHMK1, encoding a serine/threonine protein kinase, as a novel schizophrenia susceptibility gene.", "output": {"entities": {"gene": [{"text": "serine/threonine protein kinase", "start": 93, "end": 124}], "disease": [{"text": "schizophrenia", "start": 137, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "serine/threonine protein kinase", "start": 93, "end": 124}, "tail": {"text": "schizophrenia", "start": 137, "end": 150}}]}}, "schema": []}
{"input": "These data indicate that inactivation of TP53 is a relatively frequent event associated with the blastic transformation of PV and ET and may be responsible for the tumor progression of these disorders.", "output": {"entities": {"gene": [{"text": "TP53", "start": 41, "end": 45}], "disease": [{"text": "ET", "start": 130, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TP53", "start": 41, "end": 45}, "tail": {"text": "ET", "start": 130, "end": 132}}]}}, "schema": []}
{"input": "Human WNT8A mRNA is expressed in NT2 cells with neuronal differentiation potential, while human WNT8B mRNA in diffuse type gastric cancer.", "output": {"entities": {"gene": [{"text": "WNT8A", "start": 6, "end": 11}], "disease": [{"text": "gastric cancer", "start": 123, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that IAPP-induced ER stress distinguishes successful versus unsuccessful islet adaptation to insulin resistance.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 21, "end": 25}], "disease": [{"text": "insulin resistance", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "This study shows that expression of p53, Ki67, and CD30 and loss of CD117 expression fail to predict the presence of clinical metastasis at diagnosis of testicular seminoma and do not correlate with other histopathological risk factors in clinical stage I patients.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 41, "end": 45}], "disease": [{"text": "testicular seminoma", "start": 153, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "[Combined effect of recombinant mutant human TRAIL and daunorubicin in inducing apoptosis of leukemia cell and its mechanism].", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 45, "end": 50}], "disease": [{"text": "leukemia", "start": 93, "end": 101}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRAIL", "start": 45, "end": 50}, "tail": {"text": "leukemia", "start": 93, "end": 101}}]}}, "schema": []}
{"input": "This translocation results in the fusion of TEL, a recently described ETS-like gene on 12p13, and AML1, which was shown to be involved in the formation of fusion genes with ETO and EVI1 in myeloid leukemias.", "output": {"entities": {"gene": [{"text": "AML1", "start": 98, "end": 102}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Androgen insensitivity syndromes represent one cause of human male pseudohermaphroditism related to defects in the androgen receptor.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 115, "end": 132}], "disease": [{"text": "Androgen insensitivity syndromes", "start": 0, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 115, "end": 132}, "tail": {"text": "Androgen insensitivity syndromes", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "Family history for dementia was positive (PFH) in 16 patients, negative (NFH) in 17 patients, and unknown (UFH) in 3 patients.", "output": {"entities": {"gene": [{"text": "NFH", "start": 73, "end": 76}], "disease": [{"text": "dementia", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Systolic and diastolic blood pressure differed significantly among genotypes for the-14C--> T polymorphism of ABCA1 and the C--> G (Ser2229Cys) polymorphism of ROS1, with the variant T and G alleles, respectively, being related to increased blood pressure.", "output": {"entities": {"gene": [{"text": "ROS1", "start": 160, "end": 164}], "disease": [{"text": "blood pressure", "start": 23, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Since the identification in 1996 of a \" gain of function \" missense mutation, R122H, in the cationic trypsinogen gene (PRSS1) as a cause of hereditary pancreatitis, continued screening of this gene in both hereditary and sporadic pancreatitis has found more disease-associated missense mutations than expected.", "output": {"entities": {"gene": [{"text": "PRSS1", "start": 119, "end": 124}], "disease": [{"text": "sporadic", "start": 221, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "The PlA2 allele was not associated with fasting and postprandial glucose, glycated haemoglobin, insulin, proinsulin, C-peptide and calculated indices of insulin resistance or pancreatic beta cell function.", "output": {"entities": {"gene": [{"text": "PlA2", "start": 4, "end": 8}], "disease": [{"text": "insulin resistance", "start": 153, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In a rat model of trinitrobenzene sulfonic acid (TNBS)-induced visceral hypersensitivity, orally administered uroguanylin increased colonic thresholds required to elicit abdominal contractions in response to colorectal distension (CRD).", "output": {"entities": {"gene": [{"text": "uroguanylin", "start": 110, "end": 121}], "disease": [{"text": "hypersensitivity", "start": 72, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "When these cells were tested for their ability to prevent the development of collagen induced arthritis, both the engineered DR1-CII-Foxp3 and Foxp3 only Tregs significantly reduced the severity and incidence of disease.", "output": {"entities": {"gene": [{"text": "DR1", "start": 125, "end": 128}], "disease": [{"text": "arthritis", "start": 94, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that the GABRA1 gene may play a role in the etiology of bipolar disorders.", "output": {"entities": {"gene": [{"text": "GABRA1", "start": 32, "end": 38}], "disease": [{"text": "bipolar disorders", "start": 79, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA1", "start": 32, "end": 38}, "tail": {"text": "bipolar disorders", "start": 79, "end": 96}}]}}, "schema": []}
{"input": "Progressive subcortical gliosis (PSG) is a sporadic and familial dementing disease characterized pathologically by astrogliosis at the cortex-white matter junction, a feature present in some prion diseases.", "output": {"entities": {"gene": [{"text": "PSG", "start": 33, "end": 36}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We propose that 9q34. 11 genomic deletions involving ENG, TOR1A, STXBP1, and SPTAN1 are responsible for multisystemic vascular dysplasia, early-onset primary dystonia, epilepsy, and intellectual disability, therefore revealing cis-genetic effects leading to complex phenotypes.", "output": {"entities": {"gene": [{"text": "ENG", "start": 53, "end": 56}], "disease": [{"text": "intellectual disability", "start": 182, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Alpha synuclein (SYN) is a central player in the pathogenesis of sporadic and familial Parkinson' s disease (PD).", "output": {"entities": {"gene": [{"text": "SYN", "start": 17, "end": 20}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Our results show that the identified novel heterozygous deletion in the CDKN1B 5'-UTR region associates with a reduction in CDKN1B mRNA levels, a predicted altered secondary mRNA structure, and a reduced CDKN1B 5'-UTR transcriptional activity in vitro.", "output": {"entities": {"gene": [{"text": "UTR", "start": 82, "end": 85}], "disease": [{"text": "secondary", "start": 164, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We noted that the CCL25/CCR9 axis in pancreatic cancer cells induced the activation of β-catenin, which enhanced cell proliferation, invasion, and drug resistance.", "output": {"entities": {"gene": [{"text": "CCL25", "start": 18, "end": 23}], "disease": [{"text": "pancreatic cancer", "start": 37, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Mitotic arrest deficient-like 1 (MAD1L1) whose dysfunction is associated with chromosomal instability plays a pathogenic role in a few human cancers.", "output": {"entities": {"gene": [{"text": "MAD1L1", "start": 33, "end": 39}], "disease": [{"text": "chromosomal instability", "start": 78, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.", "output": {"entities": {"gene": [{"text": "MCFD2", "start": 87, "end": 92}], "disease": [{"text": "Combined deficiency of factor V and factor VIII", "start": 0, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCFD2", "start": 87, "end": 92}, "tail": {"text": "Combined deficiency of factor V and factor VIII", "start": 0, "end": 47}}]}}, "schema": []}
{"input": "Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.", "output": {"entities": {"gene": [{"text": "protoporphyrinogen oxidase", "start": 67, "end": 93}], "disease": [{"text": "variegate porphyria", "start": 130, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "protoporphyrinogen oxidase", "start": 67, "end": 93}, "tail": {"text": "variegate porphyria", "start": 130, "end": 149}}]}}, "schema": []}
{"input": "These findings suggest the possibility that childhood experience of neglect and poor parent-child attachment may have a persistent effect on HPA axis function as an adult, partially contributing, together with genetic factors and other environmental conditions, to both depressive traits and substance abuse neurobiological vulnerability.", "output": {"entities": {"gene": [{"text": "HPA", "start": 141, "end": 144}], "disease": [{"text": "substance abuse", "start": 292, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "ClC7 Cl (-) channels (Clcn7) are crucial for osteoclastic bone resorption and have heterozygous mutation in autosomal osteopetrosis type II (ADO II) patients.", "output": {"entities": {"gene": [{"text": "Clcn7", "start": 22, "end": 27}], "disease": [{"text": "bone resorption", "start": 58, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Thus, in progressive but not in stable proteinuric kidney disease, human PTECs show an attenuated VEGF-A expression despite an activation of intracellular hypoxia response and VEGF signaling pathways, which might be due to a reduced expression of positive coregulators, such as EGF and IGF-1.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 98, "end": 104}], "disease": [{"text": "hypoxia", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results show that PLZF-ERalpha is a potent repressor of estrogen-regulated gene expression and could be useful in distinguishing estrogen-regulated genes required for the growth of breast cancer cells.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 78, "end": 101}], "disease": [{"text": "breast cancer", "start": 203, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "VEGF secretion was further inducible by both hypoxia and interleukin 1beta (IL-1beta) and these increases were additive.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Do GluA1 knockout mice exhibit behavioral abnormalities relevant to the negative or cognitive symptoms of schizophrenia and schizoaffective disorder?", "output": {"entities": {"gene": [{"text": "GluA1", "start": 3, "end": 8}], "disease": [{"text": "schizoaffective disorder", "start": 124, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GluA1", "start": 3, "end": 8}, "tail": {"text": "schizoaffective disorder", "start": 124, "end": 148}}]}}, "schema": []}
{"input": "BAT had a sensitivity of 87% and specificity of 100% in diagnosing WVA in mastocytosis patients.", "output": {"entities": {"gene": [{"text": "BAT", "start": 0, "end": 3}], "disease": [{"text": "mastocytosis", "start": 74, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Logistic regression analyses established multimerin 1, pro-platelet basic protein, fibrinogen-α, and fibrinogen-β for prognosis of sepsis.", "output": {"entities": {"gene": [{"text": "pro-platelet basic protein", "start": 55, "end": 81}], "disease": [{"text": "fibrinogen", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Human U87-MG glioma cells transfected with specific anti-OPN small interfering RNAs (siRNAs) were grafted onto the chicken chorio-allantoic membrane (CAM).", "output": {"entities": {"gene": [{"text": "U87", "start": 6, "end": 9}], "disease": [{"text": "glioma", "start": 13, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Data from several human and animal studies imply an important function for HO-1 in the genetic regulation of early, as well as late atherogenesis, and plaque destabilization toward a vulnerable phenotype.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 75, "end": 79}], "disease": [{"text": "atherogenesis", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "It is still unclear whether the factor V Leiden predisposes patients to arterial thrombosis and myocardial infarction (MI).", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 32, "end": 47}], "disease": [{"text": "arterial thrombosis", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS).", "output": {"entities": {"gene": [{"text": "LTBP2", "start": 37, "end": 42}], "disease": [{"text": "Weill-Marchesani syndrome", "start": 120, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LTBP2", "start": 37, "end": 42}, "tail": {"text": "Weill-Marchesani syndrome", "start": 120, "end": 145}}]}}, "schema": []}
{"input": "We show here that PI3Kγ activates PLCγ, leading to RasGrp/CalDAG-GEF-I & II mediated, Rap1a-dependent activation of integrin α4β1, extravasation of monocytes and granulocytes, and inflammation-associated tumor progression.", "output": {"entities": {"gene": [{"text": "RasGrp", "start": 51, "end": 57}], "disease": [{"text": "tumor progression", "start": 204, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present work was to investigate expression levels of HCNP-precursor protein (HCNP-pp) mRNA and other cholinergic-related genes in the postmortem amygdala of MDD patients and matched controls (females: N = 16 pairs; males: N = 12 pairs), and in the mouse unpredictable chronic mild stress (UCMS) model that induced elevated anxiety-/depressive-like behaviors (females: N = 6 pairs; males: N = 6 pairs).", "output": {"entities": {"gene": [{"text": "HCNP", "start": 68, "end": 72}], "disease": [{"text": "mild", "start": 291, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "We searched for associations between common resistin gene variants and factors related to insulin resistance in Asian individuals with high or low blood pressure (BP).", "output": {"entities": {"gene": [{"text": "resistin gene", "start": 44, "end": 57}], "disease": [{"text": "blood pressure", "start": 147, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In vitro, after the release of HCC cell lines from serum starvation, the expression of Emi1 APC/C substrates (cyclins A, B) and Skp2 was up-regulated, whereas p27 (Kip1) was down-regulated.", "output": {"entities": {"gene": [{"text": "HCC", "start": 31, "end": 34}], "disease": [{"text": "starvation", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Loci on chromosome 10 include MSMB, which encodes beta-microseminoprotein, a primary constituent of semen and a proposed prostate cancer biomarker, and CTBP2, a gene with antiapoptotic activity; the locus on chromosome 7 is at JAZF1, a transcriptional repressor that is fused by chromosome translocation to SUZ12 in endometrial cancer.", "output": {"entities": {"gene": [{"text": "SUZ12", "start": 307, "end": 312}], "disease": [{"text": "endometrial cancer", "start": 316, "end": 334}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SUZ12", "start": 307, "end": 312}, "tail": {"text": "endometrial cancer", "start": 316, "end": 334}}]}}, "schema": []}
{"input": "In conclusion, proximal and distal gastric carcinomas show no differences in expression of APC, beta-catenin, or E-cadherin; thus, the observed abnormalities do not seem to contribute to the observed epidemiologic differences between these tumors.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 113, "end": 123}], "disease": [{"text": "abnormalities", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We carried out cytogenetic and FISH studies on 42 children with ALL in order to know the frequency of this translocation in our population, the incidence of TEL and/or AML1 gene alterations, and their correlation with clinical evolution and prognosis.", "output": {"entities": {"gene": [{"text": "AML1", "start": 168, "end": 172}], "disease": [{"text": "translocation", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We describe here a systematic analysis of the EPM2A and the NHLRC1 gene sequences in 20 LD families from the Indian population.", "output": {"entities": {"gene": [{"text": "EPM2A", "start": 46, "end": 51}], "disease": [{"text": "LD", "start": 88, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPM2A", "start": 46, "end": 51}, "tail": {"text": "LD", "start": 88, "end": 90}}]}}, "schema": []}
{"input": "This study demonstrates that mice with a targeted deletion of the Mir122a gene possess several key phenotypes of human liver diseases, which provides a rationale for the development of a unique therapy for the treatment of chronic liver disease and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 249, "end": 252}], "disease": [{"text": "liver diseases", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Here, we analyzed the expression of IL32 and its implication on HNSCC aggressiveness.", "output": {"entities": {"gene": [{"text": "IL32", "start": 36, "end": 40}], "disease": [{"text": "aggressiveness", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We recently reported that total Astragalus saponins (AST) possess anti-tumor properties in human colon cancer cells and tumor xenografts.", "output": {"entities": {"gene": [{"text": "AST", "start": 53, "end": 56}], "disease": [{"text": "colon cancer", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.", "output": {"entities": {"gene": [{"text": "keratin 10", "start": 33, "end": 43}], "disease": [{"text": "annular epidermolytic ichthyosis", "start": 51, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 10", "start": 33, "end": 43}, "tail": {"text": "annular epidermolytic ichthyosis", "start": 51, "end": 83}}]}}, "schema": []}
{"input": "To investigate the characteristics and prevalence of poststroke depression (PSD) and poststroke emotional incontinence (PSEI) and the factors related to these conditions at admission and 3 months after stroke.", "output": {"entities": {"gene": [{"text": "PSD", "start": 76, "end": 79}], "disease": [{"text": "stroke", "start": 57, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Considering the size of our sample sets (power & #160; & gt; & #160; 90%), our results suggest that the YWHAE does not play a major role in schizophrenia, major depressive disorder or bipolar disorder in the Han Chinese population.", "output": {"entities": {"gene": [{"text": "YWHAE", "start": 104, "end": 109}], "disease": [{"text": "bipolar disorder", "start": 184, "end": 200}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "YWHAE", "start": 104, "end": 109}, "tail": {"text": "bipolar disorder", "start": 184, "end": 200}}]}}, "schema": []}
{"input": "Tamoxifen is often used in Europe in conjunction with transdermal ERT in hysterectomised women without obvious loss of efficacy or increased risk of thromboembolism.", "output": {"entities": {"gene": [{"text": "ERT", "start": 66, "end": 69}], "disease": [{"text": "thromboembolism", "start": 149, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "As a proof of principle, the compromised invasive potential of vimentin depleted cells could be rescued upon blocking with β4 integrin adhesion-blocking (ASC-8) antibody or downregulation of β4 integrin in vimentin knockdown background.", "output": {"entities": {"gene": [{"text": "ASC", "start": 154, "end": 157}], "disease": [{"text": "adhesion", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Whole section lymphocytic infiltration was studied along with mRNA expression of CD3Z, CD8, CD4, CXCL9, CXCL13, IGHM, FOXP3, SNAI2 and ESR1 by qRT-qPCR in tissue microarray (TMA) cores from the centre of tumour, invasive margin and adjacent normal mucosa.", "output": {"entities": {"gene": [{"text": "CD4", "start": 92, "end": 95}], "disease": [{"text": "lymphocytic infiltration", "start": 14, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing identifies PDE4D mutations in acrodysostosis.", "output": {"entities": {"gene": [{"text": "PDE4D", "start": 28, "end": 33}], "disease": [{"text": "acrodysostosis", "start": 47, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDE4D", "start": 28, "end": 33}, "tail": {"text": "acrodysostosis", "start": 47, "end": 61}}]}}, "schema": []}
{"input": "In this study skin biopsies from 17 CTCL patients, including 12 mycosis fungoides, four pleomorphic CTCL, and one CD8 + CTCL, were investigated for epidermal IL-8 and IP-10 mRNA expression by RNA in situ hybridization.", "output": {"entities": {"gene": [{"text": "CD8", "start": 114, "end": 117}], "disease": [{"text": "mycosis fungoides", "start": 64, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We show that increased Cdc7 expression during mammary tumorigenesis is linked to Her2-overexpressing and triple-negative subtypes, accelerated cell cycle progression (P < 0. 001), arrested tumor differentiation (P < 0. 001), genomic instability (P = 0. 019), increasing NPI score (P < 0. 001), and reduced disease-free survival (HR = 1. 98 [95% CI: 1. 27-3. 10]; P = 0. 003), thus implicating its deregulation in the development of aggressive disease.", "output": {"entities": {"gene": [{"text": "NPI", "start": 270, "end": 273}], "disease": [{"text": "mammary tumorigenesis", "start": 46, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "To develop clinically relevant animal models of ependymoma, we directly injected a fresh surgical specimen from a 9-year-old patient into the right cerebrum of RAG2/severe complex immune deficiency (SCID) mice.", "output": {"entities": {"gene": [{"text": "RAG2", "start": 160, "end": 164}], "disease": [{"text": "ependymoma", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Lipofection-mediated gene transfers were performed with these 3 constructs and a control plasmid, pCDNA3, in 3 human prostate cancer cell lines (LNCaP, DU-145, PC-3) and 5 other cell lines (Cos-1 [monkey kidney], HL-60 [human myeloid leukemia], Hep G2 [human hepatoma], NCI H460 [human lung cancer] and SW 480 [human colon cancer]).", "output": {"entities": {"gene": [{"text": "PC-3", "start": 160, "end": 164}], "disease": [{"text": "colon cancer", "start": 317, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the data suggest a role for MMPs, especially MMP-9, in the pathogenesis of MODS.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 60, "end": 65}], "disease": [{"text": "MODS", "start": 90, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 60, "end": 65}, "tail": {"text": "MODS", "start": 90, "end": 94}}]}}, "schema": []}
{"input": "Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy.", "output": {"entities": {"gene": [{"text": "KCNJ10", "start": 13, "end": 19}], "disease": [{"text": "epilepsy, ataxia, sensorineural deafness, and tubulopathy", "start": 61, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ10", "start": 13, "end": 19}, "tail": {"text": "epilepsy, ataxia, sensorineural deafness, and tubulopathy", "start": 61, "end": 118}}]}}, "schema": []}
{"input": "We identified ten nucleotide variations in the NPPS gene; five of the alterations caused amino-acid substitutions, and two of them were found specifically in OPLL patients.", "output": {"entities": {"gene": [{"text": "NPPS", "start": 47, "end": 51}], "disease": [{"text": "OPLL", "start": 158, "end": 162}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NPPS", "start": 47, "end": 51}, "tail": {"text": "OPLL", "start": 158, "end": 162}}]}}, "schema": []}
{"input": "Internal tandem duplication was correlated with higher white blood cell and blast counts, lactate dehydrogenase, relapse-risk score, fever, hemorrhage, coagulopathy, BCR3 isoform, M3 variant subtype, and expression of CD2, CD34, human leukocyte antigen-DR, and CD11b surface antigens.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 261, "end": 266}], "disease": [{"text": "hemorrhage", "start": 140, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In studying their incidence and relationship in primary pulmonary MALT lymphomas, a translocation involving MALT1 and IGH was also identified.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 108, "end": 113}], "disease": [{"text": "translocation", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "A case-control-study of 38 pairs of patients with either PRSS1 or SPINK1 mutations showed that the probability of duct dilatation, diabetes and calcification was slightly higher in patients having a SPINK1 mutation.", "output": {"entities": {"gene": [{"text": "SPINK1", "start": 66, "end": 72}], "disease": [{"text": "dilatation", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "PI3K inhibitors or siRNA knockdown of Akt suppressed the PPARδ transactivation induced by hypoxia and deferoxamine in HCT116 cells, leading to decreased expression of IL-8 and VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 176, "end": 180}], "disease": [{"text": "hypoxia", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The variant c. 5217G > A was found in six unrelated cases (three families and three sporadic cases) and was not found in 400 control X chromosomes, pilot data from the 1000 Genomes Project, or the FLNA gene variant database.", "output": {"entities": {"gene": [{"text": "FLNA gene", "start": 197, "end": 206}], "disease": [{"text": "sporadic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "First, we introduced various types of the p53 mutant gene into Hep3B and evaluated the role of p53 in hypoxic responses, including vascular endothelial growth factor (VEGF) production and HIF-1 activation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 167, "end": 171}], "disease": [{"text": "hypoxic", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "These adhesion molecules also formed tight protein complexes and synergized with EGF/EGFR to accelerate tumor cell motility and invasion.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 85, "end": 89}], "disease": [{"text": "adhesion", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "EGFR mutations were more frequently detected in female (P = 0. 009) and non-smoking patients (P = 0. 0001).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We have studied TNF-related apoptosis-inducing ligand (TRAIL) and its membrane-bound (R1-R4) and soluble receptors [osteoprotegerin (OPG)] in gestational membranes to assess their significance in preterm parturition and premature rupture of membranes (PROM).", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 55, "end": 60}], "disease": [{"text": "premature rupture of membranes", "start": 220, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Only FU individuals hosted ST7, and ST6/7 infections due to ST7 or ST9 were characterized by multiple intestinal symptoms.", "output": {"entities": {"gene": [{"text": "ST6", "start": 36, "end": 39}], "disease": [{"text": "infections", "start": 42, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations of RET cause a dominantly inherited dysgenesis of the enteric nervous system known as Hirschsprung' s disease (HSCR; aganglionosis megacolon).", "output": {"entities": {"gene": [{"text": "RET", "start": 22, "end": 25}], "disease": [{"text": "Hirschsprung' s disease", "start": 105, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 22, "end": 25}, "tail": {"text": "Hirschsprung' s disease", "start": 105, "end": 128}}]}}, "schema": []}
{"input": "Fluoxetine response in impulsive-aggressive behavior and serotonin transporter polymorphism in personality disorder.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 57, "end": 78}], "disease": [{"text": "aggressive behavior", "start": 33, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "CD4 + CD28null T cells are present in increased numbers in the peripheral blood of patients with acute coronary syndrome (ACS) compared with patients with chronic stable angina (CSA).", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "chronic stable angina", "start": 155, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "METHODS: The expression of MYH, MSH2, MLH1, and MSH6 proteins was studied by immunohistochemistry in 20 samples (colorectal adenomas or cancer) from 18 patients with biallelic MYH mutation, in 11 samples from patients with germline adenomatous polyposis coli (APC) mutations, in 20 samples from patients with sporadic colorectal cancers, and in 10 samples from patients with normal colonic mucosa without malignancies.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 48, "end": 52}], "disease": [{"text": "sporadic", "start": 309, "end": 317}]}, "relations": {}}, "schema": []}
{"input": "Hybridisation accessibility profile of the first 120nt in the coding region of the human EGFR mRNA was determined by hybridising a radiolabelled EGFR transcript to a scanning array of 2684 antisense sequences ranging from monomers to 27-mers.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 89, "end": 93}], "disease": [{"text": "mers", "start": 226, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants.", "output": {"entities": {"gene": [{"text": "MYB", "start": 33, "end": 36}], "disease": [{"text": "acute basophilic leukemia", "start": 58, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYB", "start": 33, "end": 36}, "tail": {"text": "acute basophilic leukemia", "start": 58, "end": 83}}]}}, "schema": []}
{"input": "All six cases with an isolated BCL2 rearrangement had predominantly interfollicular plasmacytic cells whereas, 6/7 cases without the translocation had concentrations of intrafollicular or perifollicular plasmacytic cells (P < 0. 005), as did the case with BCL2 and BCL6 translocations.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 31, "end": 35}], "disease": [{"text": "translocation", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "In Han patients, EGFR-sensitive mutations occurred in female, never-smoking patients with well-differentiated tumors; but for Uighur patients only smoking history showed an obvious correlation.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 17, "end": 21}], "disease": [{"text": "smoking", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Indeed, Kv1. 3 channel inhibition increases insulin sensitivity by decreasing inflammatory cytokines and by facilitating the translocation of GLUT4 to the plasma membrane.", "output": {"entities": {"gene": [{"text": "Kv1. 3", "start": 8, "end": 14}], "disease": [{"text": "translocation", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.", "output": {"entities": {"gene": [{"text": "beta2", "start": 112, "end": 117}], "disease": [{"text": "hypoproteinemia", "start": 24, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We also assessed by ChIP assay that HIF-1α and GPER are both recruited to the VEGF promoter sequence and required for VEGF promoter stimulation upon hypoxic condition.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 78, "end": 82}], "disease": [{"text": "hypoxic", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Circulating CD4 + CD25 + T cells in rheumatic mitral stenosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 12, "end": 15}], "disease": [{"text": "rheumatic mitral stenosis", "start": 36, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "For dioxin-induced birth defects, mouse or human CYP1A2 in maternal liver protects whereas mouse CYP1A1 and CYP1B1 are inconsequential.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 97, "end": 103}], "disease": [{"text": "birth defects", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "There were no significant differences among asthmatic and atopic controls in the frequency of HLA-DRB1 * 11 (25. 6 vs 17. 4%).", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 94, "end": 102}], "disease": [{"text": "atopic", "start": 58, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Knockout of the mer gene protected mice from collagen/epinephrine-induced pulmonary thromoembolism and inhibited ferric chloride-induced thrombosis in vivo.", "output": {"entities": {"gene": [{"text": "mer", "start": 16, "end": 19}], "disease": [{"text": "thrombosis", "start": 137, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mer", "start": 16, "end": 19}, "tail": {"text": "thrombosis", "start": 137, "end": 147}}]}}, "schema": []}
{"input": "The blisters in bullous impetigo and SSSS are induced by exfoliative toxin that specifically cleaves Dsg1.", "output": {"entities": {"gene": [{"text": "Dsg1", "start": 101, "end": 105}], "disease": [{"text": "blisters", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Malignant cells produce an angiogenesis factor, vascular endothelial growth factor (VEGF), which may increase metastatic ability and is up-regulated in the presence of hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 84, "end": 88}], "disease": [{"text": "hypoxia", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The effect of hypoxia on the expressions of angiogenesis factors as cysteine-rich 61 (Cyr61) and vascular endothelial growth factor (VEGF) and neutrophil chemoattractant as interleukin (IL)-8 in nasal polyp fibroblasts (NPFs), and the role of nuclear factor kappa B (NF-kappaB) in this reaction were investigated.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 133, "end": 137}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity.", "output": {"entities": {"gene": [{"text": "UBIAD1", "start": 104, "end": 110}], "disease": [{"text": "Schnyder corneal dystrophy", "start": 0, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBIAD1", "start": 104, "end": 110}, "tail": {"text": "Schnyder corneal dystrophy", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "The DCX mutation prevalence was 84. 6% (22 of 26) in sporadic SBH patients and 100% (11 of 11) in SBH pedigrees.", "output": {"entities": {"gene": [{"text": "DCX", "start": 4, "end": 7}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "& lt; i & gt; VTN & lt;/i & gt;, which encodes vitronectin, an inhibitor of the terminal complement pathway, is implicated as a novel aHUS-associated gene.", "output": {"entities": {"gene": [{"text": "vitronectin", "start": 47, "end": 58}], "disease": [{"text": "aHUS", "start": 134, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vitronectin", "start": 47, "end": 58}, "tail": {"text": "aHUS", "start": 134, "end": 138}}]}}, "schema": []}
{"input": "By this method, we examined the CST mRNA expression in 11 cases of gastric cancer, and in all the cases we detected various levels of the expression both in cancer tissues and in uninvolved adjacent tissues.", "output": {"entities": {"gene": [{"text": "CST", "start": 32, "end": 35}], "disease": [{"text": "gastric cancer", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Pathologically, hHcys-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by caspase 1 inhibition.", "output": {"entities": {"gene": [{"text": "caspase 1", "start": 230, "end": 239}], "disease": [{"text": "glomerulosclerosis", "start": 131, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Such findings support the active role of placental LPL and APOE in the metabolism of maternal lipoproteins and suggest that fetal genes may modulate the risk for problems related to maternal dyslipidemia (preeclampsia, pancreatitis, and future cardiovascular disease).", "output": {"entities": {"gene": [{"text": "LPL", "start": 51, "end": 54}], "disease": [{"text": "cardiovascular disease", "start": 244, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Our observation that blockade of CLEC5A-mediated signalling attenuates the production of proinflammatory cytokines by macrophages infected with DV (either alone or complexed with an enhancing antibody) offers a promising strategy for alleviating tissue damage and increasing the survival of patients suffering from dengue haemorrhagic fever and dengue shock syndrome, and possibly even other virus-induced inflammatory diseases.", "output": {"entities": {"gene": [{"text": "CLEC5A", "start": 33, "end": 39}], "disease": [{"text": "dengue shock syndrome", "start": 345, "end": 366}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CLEC5A", "start": 33, "end": 39}, "tail": {"text": "dengue shock syndrome", "start": 345, "end": 366}}]}}, "schema": []}
{"input": "Therefore, we investigated the correlation between CD8 + and FOXP3 + tumor-infiltrating lymphocytes and the pathological complete response (pCR) following neoadjuvant chemotherapy (NAC) in triple-negative breast cancer (TNBC), in conjunction with neoangiogenesis, basal and proliferation markers.", "output": {"entities": {"gene": [{"text": "NAC", "start": 181, "end": 184}], "disease": [{"text": "triple-negative breast cancer", "start": 189, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Interactions between two previously studied VDR polymorphisms (rs7968585 and rs2239179) and 25OHD concentrations on metabolic and cardiovascular disease-related outcomes such as obesity-(body mass index, waist circumference, waist-hip ratio (WHR)), cardiovascular-(systolic and diastolic blood pressure), lipid-(high-and low-density lipoprotein, triglycerides, total cholesterol), inflammatory-(C-reactive protein, fibrinogen, insulin growth factor-1, tissue plasminogen activator) and diabetes-(glycated haemoglobin) related markers were examined in the 1958 British Birth cohort (n up to 5160).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 395, "end": 413}], "disease": [{"text": "waist-hip ratio", "start": 225, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "For the whole group of patients, the number of polypectomies correlated with expression of SCF mRNA (r = 0. 62; P & lt; 0. 005), SCF protein in the NPECs supernatants (r = 0. 39; P & lt; 0. 05) and with density of mast cells in epithelial layer (r = 0. 37; P & lt; 0. 05) and stromal layer (r = 0. 5; P & lt; 0. 01) of nasal polyps.", "output": {"entities": {"gene": [{"text": "SCF", "start": 91, "end": 94}], "disease": [{"text": "nasal polyps", "start": 319, "end": 331}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SCF", "start": 91, "end": 94}, "tail": {"text": "nasal polyps", "start": 319, "end": 331}}]}}, "schema": []}
{"input": "There was a significant interaction of NPY genotype group by time and body weight (P = 0. 043 for three-way interaction: time x NPY genotype x body weight) in LDL-cholesterol (LDL-C) concentration among boys.", "output": {"entities": {"gene": [{"text": "NPY", "start": 39, "end": 42}], "disease": [{"text": "body weight", "start": 70, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Cox regression modeling identified a subset of genes within the PAX-FKHR expression signature that segregated ARMS patients into three risk groups with 5-year overall survival estimates of 7%, 48%, and 93%.", "output": {"entities": {"gene": [{"text": "FKHR", "start": 68, "end": 72}], "disease": [{"text": "regression", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Infantile fibrosarcoma (IFS; also known as cellular congenital mesoblastic nephroma, CMN, when in the kidney) is a rare, undifferentiated tumour often characterized by the ETV6-NTRK3 fusion transcript.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 172, "end": 176}], "disease": [{"text": "cellular congenital mesoblastic nephroma", "start": 43, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "MMP-9 agonist, miR-15b mimics and anti-miR-15b mimics were added to the U87 glioma cells for elucidating the mechanisms involved in the curative effects of mangiferin.", "output": {"entities": {"gene": [{"text": "U87", "start": 72, "end": 75}], "disease": [{"text": "glioma", "start": 76, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Determination of T-cell receptors of clonal CD8-positive T-cells in myelodysplastic syndrome with erythroid hypoplasia.", "output": {"entities": {"gene": [{"text": "CD8", "start": 44, "end": 47}], "disease": [{"text": "erythroid hypoplasia", "start": 98, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Genome-wide association study using microsatellite markers suggested SLC23A3, CNPPD1, and FAM134A genes as candidates for schizophrenia susceptibility in the Japanese population.", "output": {"entities": {"gene": [{"text": "FAM134A", "start": 90, "end": 97}], "disease": [{"text": "schizophrenia", "start": 122, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FAM134A", "start": 90, "end": 97}, "tail": {"text": "schizophrenia", "start": 122, "end": 135}}]}}, "schema": []}
{"input": "Here we show that HJURP is remarkably overexpressed in a cohort composed of 40 patients with different grade astrocytomas.", "output": {"entities": {"gene": [{"text": "HJURP", "start": 18, "end": 23}], "disease": [{"text": "astrocytomas", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "To ascertain the specificity of pS2 in prostate cancer tissue, we have used an RT-PCR method from prostate biopsies provided from human malignant and benign prostatic hyperplasia (BPH) tissue.", "output": {"entities": {"gene": [{"text": "pS2", "start": 32, "end": 35}], "disease": [{"text": "benign prostatic hyperplasia", "start": 150, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "To determine the etiologic factors of human oral cancer, we examined the prevalence of microsatellite instability (MSI), the inactivation of mismatch repair (MMR) genes, p53 mutation, and human papillomavirus (HPV) infection (HPV-16,-18, and-33) in 86 Korean oral cancer specimens, including 76 squamous cell carcinomas and 10 salivary gland tumors.", "output": {"entities": {"gene": [{"text": "MMR", "start": 158, "end": 161}], "disease": [{"text": "microsatellite instability", "start": 87, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We thus hypothesize that HMGB1 binds mtDNA in the cytoplasm of hypoxic tumor cells and promotes tumor growth through activating TLR9 signaling pathways.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 25, "end": 30}], "disease": [{"text": "hypoxic", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.", "output": {"entities": {"gene": [{"text": "phenylalanine hydroxylase", "start": 37, "end": 62}], "disease": [{"text": "phenylketonuria", "start": 71, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "phenylalanine hydroxylase", "start": 37, "end": 62}, "tail": {"text": "phenylketonuria", "start": 71, "end": 86}}]}}, "schema": []}
{"input": "L1CAM regulates expression of NBS1, a critical component of the MRE11-RAD50-NBS1 (MRN) complex that activates ataxia telangiectasia mutated (ATM) kinase and early checkpoint response.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 0, "end": 5}], "disease": [{"text": "telangiectasia", "start": 117, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that: (a) the hyperostosis and the metaphyseal long bone deformity in the present CMD patient might be explained by osteoclast dysfunction due to impaired expression of the osteoclast-reactive vacuolar proton pump; and (b) a protooncogene c-src was not associated with the pathogenesis of the present CMD patient.", "output": {"entities": {"gene": [{"text": "proton pump", "start": 221, "end": 232}], "disease": [{"text": "hyperostosis", "start": 33, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "t (14; 18)-(IgH; Bcl-2) translocation, at the major break point region (MBR) and minor cluster region (mcr), were assessed by the polymerase chain reaction (PCR) in tumour DNA obtained from 40 consecutive gastrointestinal MALT lymphoma patients.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 17, "end": 22}], "disease": [{"text": "translocation", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Defective DNA double-strand break repair underlies enhanced tumorigenesis and chromosomal instability in p27-deficient mice with growth factor-induced oligodendrogliomas.", "output": {"entities": {"gene": [{"text": "p27", "start": 105, "end": 108}], "disease": [{"text": "tumorigenesis", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Are some genetic risk factors common to schizophrenia, bipolar disorder and depression? Evidence from DISC1, GRIK4 and NRG1.", "output": {"entities": {"gene": [{"text": "NRG1", "start": 119, "end": 123}], "disease": [{"text": "depression", "start": 76, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRG1", "start": 119, "end": 123}, "tail": {"text": "depression", "start": 76, "end": 86}}]}}, "schema": []}
{"input": "The extracellular matrix differentially regulates the expression of PTHrP and the PTH/PTHrP receptor in FG pancreatic cancer cells.", "output": {"entities": {"gene": [{"text": "PTH/PTHrP receptor", "start": 82, "end": 100}], "disease": [{"text": "pancreatic cancer", "start": 107, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "On immunohistochemistry and in situ hybridization, endothelial cells in the plexiform lesions expressed VEGF mRNA and protein and overexpressed the mRNA and protein of VEGFR-2, and the transcription factor subunits HIF-1alpha and HIF-1beta of hypoxia inducible factor, which are responsible for the hypoxia-dependent induction of VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 104, "end": 108}], "disease": [{"text": "hypoxia", "start": 243, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, FRNK blocks eosinophil accumulation, firm adhesion and transmigration by preventing transcription and protein expression of VCAM-1 and CCL26.", "output": {"entities": {"gene": [{"text": "CCL26", "start": 152, "end": 157}], "disease": [{"text": "adhesion", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Cell-imaging and immunoblotting of low-density, detergent-insoluble membrane fractions confirmed that tight junction proteins (occludin, claudin-1 and zona occludens-1) are internalized through an NF-kappaB-dependent pathway.", "output": {"entities": {"gene": [{"text": "occludin", "start": 127, "end": 135}], "disease": [{"text": "zona", "start": 151, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "We investigated the response of body weight and metabolic factors to behavioral intervention in Japanese women with Trp64Arg mutation in the beta (3) AR gene.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 150, "end": 157}], "disease": [{"text": "body weight", "start": 32, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Six SNPs (TCF7L2, SLC30A8, HHEX, CDKN2B, CDKAL1, and MTNR1B) were significantly (P < 6. 9 x 10 (-4)) and two SNPs (KCNJ11 and IGF2BP2) were nominally (P < 0. 05) associated with early-phase insulin release (InsAUC (0-30)/GluAUC (0-30)), adjusted for age, BMI, and insulin sensitivity (Matsuda ISI).", "output": {"entities": {"gene": [{"text": "IGF2BP2", "start": 126, "end": 133}], "disease": [{"text": "insulin sensitivity", "start": 264, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to elucidate the effects of ataxia telangiectasia mutated (ATM) kinase on the regulation of the extrinsic tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) receptor 2/DR5-mediated death pathway in human melanoma cells.", "output": {"entities": {"gene": [{"text": "DR5", "start": 214, "end": 217}], "disease": [{"text": "telangiectasia", "start": 68, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In addition, tissue microarray analyses of TGCTs revealed that expression of Noxa correlates with good clinical prognosis in patients with embryonal carcinoma.", "output": {"entities": {"gene": [{"text": "Noxa", "start": 77, "end": 81}], "disease": [{"text": "embryonal carcinoma", "start": 139, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The data suggest that annexins may contribute to ventricular remodeling and annexin V to impaired Ca2 + handling in failing heart.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 98, "end": 101}], "disease": [{"text": "ventricular remodeling", "start": 49, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis as to whether alterations in angiotensin-converting enzyme (ACE), ACE2, and neprilysin in serum, urine, and proximal tubules are associated with this increase in mean arterial pressure.", "output": {"entities": {"gene": [{"text": "ACE", "start": 85, "end": 88}], "disease": [{"text": "mean arterial pressure", "start": 187, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Carcinomas showed relatively high expression of several genes associated with mammary epithelial cell growth and proliferation (e. g., cyclin D1, PDGFalpha) and relatively low expression of differentiation marker genes (e. g., beta-casein, whey acidic protein, transferrin).", "output": {"entities": {"gene": [{"text": "beta-casein", "start": 227, "end": 238}], "disease": [{"text": "Carcinomas", "start": 0, "end": 10}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-casein", "start": 227, "end": 238}, "tail": {"text": "Carcinomas", "start": 0, "end": 10}}]}}, "schema": []}
{"input": "C57Bl6 mice were given intrathecal injections of small interfering RNAs to reduce levels of TRPV4, or control small interfering RNAs, along with colonic injections of biopsy supernatants; visceral hypersensitivity was measured based on response to colorectal distension.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 92, "end": 97}], "disease": [{"text": "hypersensitivity", "start": 197, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Our results, along with those of other groups support the use of AAV vectors for the treatment of inherited retinal degeneration.", "output": {"entities": {"gene": [{"text": "AAV", "start": 65, "end": 68}], "disease": [{"text": "retinal degeneration", "start": 108, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The orphan nuclear receptor, NR4A2, is a key regulator and potential biomarker for inflammation and represents a potentially valuable therapeutic target.", "output": {"entities": {"gene": [{"text": "NR4A2", "start": 29, "end": 34}], "disease": [{"text": "inflammation", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "These results identify the AKT1 PH domain and hinge region as functional domains which jointly permit AKT1 translocation and phosphorylation in response to extracellular pressure and distinguish determine the specificity of AKT1 in mediating the effects of extracellular pressure on cancer cell adhesion.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 27, "end": 31}], "disease": [{"text": "translocation", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Female, but not male, TRH-R2 knockout mice exhibit moderately increased depression-like and reduced anxiety-like phenotypes.", "output": {"entities": {"gene": [{"text": "TRH", "start": 22, "end": 25}], "disease": [{"text": "depression", "start": 72, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 22, "end": 25}, "tail": {"text": "depression", "start": 72, "end": 82}}]}}, "schema": []}
{"input": "This mutation caused the mildest form of all androgen insensitivity syndromes ever examined for mutations in the androgen receptor gene.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 113, "end": 130}], "disease": [{"text": "androgen insensitivity syndromes", "start": 45, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 113, "end": 130}, "tail": {"text": "androgen insensitivity syndromes", "start": 45, "end": 77}}]}}, "schema": []}
{"input": "Several reports suggest that reduced reelin expression is associated with human mental illnesses such as schizophrenia, mood disorders and autism.", "output": {"entities": {"gene": [{"text": "reelin", "start": 37, "end": 43}], "disease": [{"text": "mood disorders", "start": 120, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "reelin", "start": 37, "end": 43}, "tail": {"text": "mood disorders", "start": 120, "end": 134}}]}}, "schema": []}
{"input": "In addition, in EAs, alcohol dependence was observed to interact with childhood adverse experiences, and also FKBP5 polymorphisms, to increase the risk for PTSD.", "output": {"entities": {"gene": [{"text": "FKBP5", "start": 110, "end": 115}], "disease": [{"text": "alcohol dependence", "start": 21, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FKBP5", "start": 110, "end": 115}, "tail": {"text": "alcohol dependence", "start": 21, "end": 39}}]}}, "schema": []}
{"input": "Primary aldosteronism (PA) is the main cause of secondary hypertension, resulting from adrenal aldosterone-producing adenomas (APA) or bilateral hyperplasia.", "output": {"entities": {"gene": [{"text": "APA", "start": 127, "end": 130}], "disease": [{"text": "secondary hypertension", "start": 48, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that BTG3 plays an important role in lung tumorigenesis, although the underlying mechanisms are unknown.", "output": {"entities": {"gene": [{"text": "BTG3", "start": 27, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The p22-phox 242T allele is associated with higher blood pressure levels among subjects with higher USE in an urban Brazilian population.", "output": {"entities": {"gene": [{"text": "p22-phox", "start": 4, "end": 12}], "disease": [{"text": "blood pressure", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Our results thus do not implicate the DBH C-1021T polymorphism in the pathophysiology of depressive disorders or personality disorders, yet homozygosity at this locus appears to increase the risk towards personality traits related to impulsiveness, aggression and related disease states, namely adult ADHD.", "output": {"entities": {"gene": [{"text": "DBH", "start": 38, "end": 41}], "disease": [{"text": "personality traits", "start": 204, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Epithelial-mesenchymal transition (EMT) was found to be closely related with tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 35, "end": 38}], "disease": [{"text": "tumor progression", "start": 77, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "A negative association was found between ANF and diastolic blood pressure, being most pronounced in the low-risk group.", "output": {"entities": {"gene": [{"text": "ANF", "start": 41, "end": 44}], "disease": [{"text": "diastolic blood pressure", "start": 49, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "PPP3CC", "start": 210, "end": 216}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPP3CC", "start": 210, "end": 216}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "The transcription factor gene CHOP was recently shown to be rearranged in myxoid liposarcoma with t (12; 16) (q13; p11).", "output": {"entities": {"gene": [{"text": "p11", "start": 115, "end": 118}], "disease": [{"text": "myxoid liposarcoma", "start": 74, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The study showed that the disease-causing mutation frequencies of MT-RNR1 m. 1555A > G, GJB2, and SLC26A4 were 12. 29%, 14. 62%, and 18. 27% in familial probands and 3. 56%, 18. 63%, and 18. 92% in sporadic patients, respectively.", "output": {"entities": {"gene": [{"text": "SLC26A4", "start": 98, "end": 105}], "disease": [{"text": "sporadic", "start": 198, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Targeting Id1 and Id3 inhibits peritoneal metastasis of gastric cancer.", "output": {"entities": {"gene": [{"text": "Id3", "start": 18, "end": 21}], "disease": [{"text": "gastric cancer", "start": 56, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The former translocation results in apoptosis inhibitor 2 gene (API2)-MALT lymphoma-associated translocation 1 (MALT1) fusion.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 112, "end": 117}], "disease": [{"text": "translocation", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "However, little is known about the effects of CGRP on gastrointestinal injuries induced by cerebrovascular disease.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 46, "end": 50}], "disease": [{"text": "cerebrovascular disease", "start": 91, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Gene silencing of SET7/9 with small interfering RNAs in monocytes significantly inhibited TNF-alpha-induced inflammatory genes and histone H3-lysine 4 methylation on these promoters, as well as monocyte adhesion to endothelial or smooth muscle cells.", "output": {"entities": {"gene": [{"text": "SET7/9", "start": 18, "end": 24}], "disease": [{"text": "adhesion", "start": 203, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "RET and NTRK1 are receptor tyrosine kinase (RTK) proteins which play a role in the development and maturation of specific component of the nervous system.", "output": {"entities": {"gene": [{"text": "NTRK1", "start": 8, "end": 13}], "disease": [{"text": "nervous system", "start": 139, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "By simultaneous in situ hybridization and immunocytochemistry, IL-10 mRNA was localized to both CD3 + T cells and CD68 + alveolar macrophages in BAL, with a significantly more prominent T-cell signal in the symptomatic asthmatics compared with control subjects and after allergen challenge compared with diluent challenge of the mild asthmatic subjects.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 63, "end": 68}], "disease": [{"text": "mild", "start": 329, "end": 333}]}, "relations": {}}, "schema": []}
{"input": "The recombinant Bifidobacterium infantis containing pTRKH2-PsT/sKDR plasmid enhanced the efficacy of tumor growth suppression and prolongation of survival, increased the necrosis rate of tumor significantly, and could obviously decrease MVD and the signals of blood flow in tumors.", "output": {"entities": {"gene": [{"text": "MVD", "start": 237, "end": 240}], "disease": [{"text": "necrosis", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "The type and distribution of the mutations is consistent with the hypothesis that NPS is the result of haploinsufficiency for LMX1B.", "output": {"entities": {"gene": [{"text": "LMX1B", "start": 126, "end": 131}], "disease": [{"text": "NPS", "start": 82, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMX1B", "start": 126, "end": 131}, "tail": {"text": "NPS", "start": 82, "end": 85}}]}}, "schema": []}
{"input": "Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 15, "end": 19}], "disease": [{"text": "autosomal dominant optic atrophy", "start": 33, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 15, "end": 19}, "tail": {"text": "autosomal dominant optic atrophy", "start": 33, "end": 65}}]}}, "schema": []}
{"input": "HO-1 attenuates Ang II-induced cardiac hypertrophy both in vitro and in vivo, and bilirubin mediates, at least in part, the antihypertrophic effect of HO-1 via inhibition of reactive oxygen species production after Ang II stimulation.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 0, "end": 4}], "disease": [{"text": "cardiac hypertrophy", "start": 31, "end": 50}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HO-1", "start": 0, "end": 4}, "tail": {"text": "cardiac hypertrophy", "start": 31, "end": 50}}]}}, "schema": []}
{"input": "Histone demethylase JMJD2A drives prostate tumorigenesis through transcription factor ETV1.", "output": {"entities": {"gene": [{"text": "JMJD2A", "start": 20, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The percentage of MIF (+) epithelial cells and the numbers of MIF mRNA (+) cells, MIF (+) T cells, and MIF (+) macrophages increased in chronic gastritis, but, in the absence of H. pylori infection, this increase disappeared for all except MIF (+) T cells.", "output": {"entities": {"gene": [{"text": "MIF", "start": 18, "end": 21}], "disease": [{"text": "chronic gastritis", "start": 136, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Our study will broaden our knowledge about ATP7B mutations in WD patients in north China, and be helpful for clinical genetic testing.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 43, "end": 48}], "disease": [{"text": "WD", "start": 62, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 43, "end": 48}, "tail": {"text": "WD", "start": 62, "end": 64}}]}}, "schema": []}
{"input": "The low mutational frequency in our study discounts sequence variations in DAL-1/4. 1B as the main mechanism underlying participation of this gene in the neoplastic transformation of meningiomas, and suggests that other inactivating mechanisms, such as epigenetic changes, may participate in DAL1/4. 1B silencing.", "output": {"entities": {"gene": [{"text": "4. 1B", "start": 297, "end": 302}], "disease": [{"text": "neoplastic transformation", "start": 154, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Ninety-eight SNPs were selected to tag the common genetic variation in nine genes, namely OPTN (optineurin), RDX (radixin), SNX16 (sorting nexin 16), OPA1 (optic atrophy 1), MFN1 (mitofusin 1), MFN2 (mitofusin 2), PARL (presenilin associated, rhomboid-like), SOD2 (superoxide dismutase 2, mitochondrial) and CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1).", "output": {"entities": {"gene": [{"text": "radixin", "start": 114, "end": 121}], "disease": [{"text": "optic atrophy 1", "start": 156, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Fetal urocortin secretion is increased in term and preterm labor.", "output": {"entities": {"gene": [{"text": "urocortin", "start": 6, "end": 15}], "disease": [{"text": "preterm labor", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "This further insight into understanding the mechanism responsible for tumor-induced immune suppression highlights the potential application of miR-146a as a novel immunotherapeutic target for HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 192, "end": 195}], "disease": [{"text": "immune suppression", "start": 84, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In the current study we analysed expression of VEGF and its receptors in human hepatocellular carcinoma (HCC) and investigated the molecular mechanisms of VEGF regulation by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 47, "end": 51}], "disease": [{"text": "hypoxia", "start": 174, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined whether Th1 or Th2 cells are important regulators of tenascin-C in experimental allergic asthma utilizing mice with impaired Th1 (STAT4-/-) or Th2 (STAT6-/-) immunity.", "output": {"entities": {"gene": [{"text": "Th1", "start": 35, "end": 38}], "disease": [{"text": "allergic asthma", "start": 107, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In a cross-sectional, hospital-based setting, we compared the amino acid sequences of NS5A-PKR-binding domain and E2-PePHD in the sera of 104 chronic hepatitis, 44 cirrhosis and 96 HCC patients.", "output": {"entities": {"gene": [{"text": "PKR", "start": 91, "end": 94}], "disease": [{"text": "cirrhosis", "start": 164, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "In addition, a direct interaction was identified between RAD51 and adenovirus E2 DNA binding protein.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 57, "end": 62}], "disease": [{"text": "adenovirus", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We show that even mild renal failure blunts erythropoietin production and propose the HBS1L-MYB locus as a regulator of erythropoietin.", "output": {"entities": {"gene": [{"text": "HBS1L", "start": 86, "end": 91}], "disease": [{"text": "mild", "start": 18, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Immunostaining showed ING4 expression in 38 (63. 3%), 30 (100%), and 60 (100%) cases of normal colonic mucosa, adenoma, and normal intestinal mucosal tissue, respectively.", "output": {"entities": {"gene": [{"text": "ING4", "start": 22, "end": 26}], "disease": [{"text": "adenoma", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We are the first to demonstrate a direct link between stem cell factor SALL4, SP and drug resistance in leukemia.", "output": {"entities": {"gene": [{"text": "stem cell factor", "start": 54, "end": 70}], "disease": [{"text": "leukemia", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The results showed that hypoxia upregulated HIF-1α, GPER and α-SMA expression in CAFs, and induced the secretion of Interleukin-6 (IL-6), vascular endothelial growth factor (VEGF) and connective tissue growth factor (CTGF) in CAFs.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 174, "end": 178}], "disease": [{"text": "hypoxia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The promising therapeutic targets for osteosarcoma patients include: integrin, ezrin, statin, NOTCH/HES1, matrix metalloproteinases (MMPs), m-calpain, and Src, which are involved in tumor cell invasion and metastasis; aldolase A, fructose-bisphosphate, sulfotransferase family 3A, member 1, BCL2-associated athanogene 3, heat shock protein 70 (HSP70), B-cell lymphoma 2-interacting mediator (BIM), polo-like kinase 1, hypoxia inducible factor 1, alpha subunit, minibrain-related kinase, Bcl-xl, caspase-3, midkine, high mobility group box 1 protein (HMGB1), and Beclin1, which are involved in tumor proliferation and apoptosis; met proto-oncogene (hepatocyte growth factor receptor), v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, insulin-like growth factor (IGF)-1R, fms-related tyrosine kinase 4, platelet-derived growth factor receptor, beta polypeptide, IGF-I/II, and c-kit, which are involved in tumor growth; endosialin, VEGF, thrombin, and MMPs, which are involved in tumor angiogenesis; transforming growth factor-α/β, parathyroid hormone-like hormone, interleukin-6, interleukin-11, receptor activator of nuclear factor-κB ligand, nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1, and cathepsin, which are involved in osteoclast function; Myc, HSP90, p-Met, p-Akt, p-STAT3, and cyclin D1, which are transcriptional factors; p-GP, hydroxysteroid (17-beta) dehydrogenase 10, HMGB1, BIM, inorganic phosphate, Bcl-2, PARP, mdm2, p21, Bax, and mitogen-activated protein kinase 1, which are involved in drug sensitivity.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 1324, "end": 1333}], "disease": [{"text": "tumor angiogenesis", "start": 987, "end": 1005}]}, "relations": {}}, "schema": []}
{"input": "To examine the potential functional significance of the P20L-Hsp20 human variant, adult rat cardiomyocytes were infected with Ad. GFP (where Ad is adenovirus and GFP is green fluorescent protein), Ad. WT-Hsp20 (where WT is wild-type), and Ad. P20L-Hsp20 and subjected to simulated ischemia/reperfusion injury.", "output": {"entities": {"gene": [{"text": "Hsp20", "start": 61, "end": 66}], "disease": [{"text": "adenovirus", "start": 147, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "When gene polymorphisms were compared with lipid abnormalities, the genotypes EcoR1 +/+, Xba1-/-, and Msp1 +/+ were more frequent in patients with elevated apolipoprotein B and very low-density lipoprotein levels.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 156, "end": 172}], "disease": [{"text": "abnormalities", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Immunostaining of primary tumor indicated the rate of Ki-67 positive carcinoma cells was decreased, whereas that of apoptotic cells was significantly increased in sema3C-silenced tumor.", "output": {"entities": {"gene": [{"text": "sema3C", "start": 163, "end": 169}], "disease": [{"text": "carcinoma", "start": 69, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Gene expression of NLRP3, CASPASE-1, CD3 & #603; (pan T cells), TBX21 (T (h) 1 cells) and RORC (T (h) 17 cells) was positively, whereas GATA3 (T (h) 2 cells) was inversely correlated with AT inflammation.", "output": {"entities": {"gene": [{"text": "NLRP3", "start": 19, "end": 24}], "disease": [{"text": "inflammation", "start": 191, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NLRP3", "start": 19, "end": 24}, "tail": {"text": "inflammation", "start": 191, "end": 203}}]}}, "schema": []}
{"input": "Promoter methylation and down-regulation of DAPK is associated with gastric atrophy.", "output": {"entities": {"gene": [{"text": "DAPK", "start": 44, "end": 48}], "disease": [{"text": "gastric atrophy", "start": 68, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "HSPB8 is part of the chaperone-assisted selective autophagy (CASA) complex previously only associated with Charcot-Marie-Tooth type 2L (OMIM 60673) and distal hereditary motor neuronopathy type IIa.", "output": {"entities": {"gene": [{"text": "CASA", "start": 61, "end": 65}], "disease": [{"text": "hereditary motor neuronopathy", "start": 159, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of different PFKFB in pancreatic and gastric cancer cells under hypoxic condition is correlated with enhanced expression of vascular endothelial growth factor (VEGF) and Glut1 mRNA as well as with increased level of HIF-1α protein.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 175, "end": 179}], "disease": [{"text": "hypoxic", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Most follicular lymphomas (FLs) are genetically defined by the t (14; 18) (q32; q21) translocation that juxtaposes the BCL2 gene to the immunoglobulin heavy chain (IgH) 3' regulatory regions (IgH-3' RRs).", "output": {"entities": {"gene": [{"text": "BCL2 gene", "start": 119, "end": 128}], "disease": [{"text": "translocation", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the Arg (972) IRS-1 variant could contribute to the risk for atherosclerotic cardiovascular diseases associated with type 2 diabetes by producing a cluster of insulin resistance-related metabolic abnormalities.", "output": {"entities": {"gene": [{"text": "IRS-1", "start": 41, "end": 46}], "disease": [{"text": "type 2 diabetes", "start": 144, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IRS-1", "start": 41, "end": 46}, "tail": {"text": "type 2 diabetes", "start": 144, "end": 159}}]}}, "schema": []}
{"input": "The cDNA for human Ec-SOD was cloned behind the cytomegalovirus (CMV) promoter and incorporated into a replication-deficient adenovirus (Ad5/CMV/Ec-SOD).", "output": {"entities": {"gene": [{"text": "Ec-SOD", "start": 19, "end": 25}], "disease": [{"text": "adenovirus", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "We further found that, in addition to supernatant of necrotic tumour cells, foetal calf serum and human serum used in culture media contained FPR agonist activity and increased the motility of FPR-expressing glioblastoma cells.", "output": {"entities": {"gene": [{"text": "FPR", "start": 142, "end": 145}], "disease": [{"text": "necrotic tumour", "start": 53, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Two hundred and twenty-three incident papillary thyroid cancer cases and 229 controls recruited from Saudi Arabian population were analyzed for 21 loci in 8 selected DNA repair genes by PCR-restriction fragment length polymorphism including non-homologous end joining pathway genes LIGIV (LIGlV ASP62HIS, PRO231SER, TRP46TER), XRCC4 Splice 33243301G > A and XRCC7 ILE3434THR; homologous recombination pathway genes XRCC3 ARG94HIS and THR241MET, RAD51 UTR 15452658T > C, 15455419A > G, RAD52 2259 and GLN221GLU, conserved DNA damage response gene Tp53 PRO47SER, PRO72ARG, Tp53 UTR 7178189A > C and base excision repair gene XRCC1 ARG194TRP, ARG280HIS, ARG399GLN, ARG559GLN.", "output": {"entities": {"gene": [{"text": "XRCC4", "start": 327, "end": 332}], "disease": [{"text": "papillary thyroid cancer", "start": 38, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.", "output": {"entities": {"gene": [{"text": "SPATA7", "start": 13, "end": 19}], "disease": [{"text": "Leber congenital amaurosis", "start": 26, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPATA7", "start": 13, "end": 19}, "tail": {"text": "Leber congenital amaurosis", "start": 26, "end": 52}}]}}, "schema": []}
{"input": "Recent studies have also demonstrated that the translocation of CagA into B lymphocytes inhibits apoptosis through p53 accumulation, BAD phosphorylation, and the up-regulation of Bcl-2 and Bcl-XL expression.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 179, "end": 184}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We examined 144 late-onset multiplex AD families, 436 sporadic AD cases, and 240 controls and found no evidence of linkage or association of LRP1 and AD.", "output": {"entities": {"gene": [{"text": "LRP1", "start": 141, "end": 145}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "These cases reinforce the belief that patients suffering from IRIDA have no specific geographical or ethnic distribution and are sporadic secondary to different mutations of the matriptase-2 gene.", "output": {"entities": {"gene": [{"text": "matriptase-2", "start": 178, "end": 190}], "disease": [{"text": "sporadic", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "However, there have been no studies of common genetic variants in CTSK and their possible association with bone density in the general population.", "output": {"entities": {"gene": [{"text": "CTSK", "start": 66, "end": 70}], "disease": [{"text": "bone density", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Although hypoxia has been shown to inhibit mTOR activity, we show here that the hypoxia-induced inhibition of mTOR activity is attenuated in cells lacking TSC2 or PTEN, resulting in a higher translation rate even under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 155, "end": 159}], "disease": [{"text": "hypoxic", "start": 219, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms of ZnT8 (also known as SLC30A8) gene in man are associated with increased risk of type 2 diabetes.", "output": {"entities": {"gene": [{"text": "ZnT8", "start": 17, "end": 21}], "disease": [{"text": "type 2 diabetes", "start": 96, "end": 111}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ZnT8", "start": 17, "end": 21}, "tail": {"text": "type 2 diabetes", "start": 96, "end": 111}}]}}, "schema": []}
{"input": "These data indicate that BCL2 or BCL3 are recurrent translocation partners of the IGH locus in cHL; however, most of the translocation partners of IGH translocations in cHL remain to be identified.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 25, "end": 29}], "disease": [{"text": "translocation", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Fifty percent of RER-positive HNPCC tumors had both germline and somatic mutations of hMSH2 or hMLH1 gene, whereas 6% of RER-positive non-HNPCC had somatic mutation.", "output": {"entities": {"gene": [{"text": "RER", "start": 17, "end": 20}], "disease": [{"text": "somatic mutation", "start": 65, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal lobe epilepsy (NFLE).", "output": {"entities": {"gene": [{"text": "CHRNB2", "start": 96, "end": 102}], "disease": [{"text": "sporadic", "start": 201, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Stromal cells subjacent to the carcinoma cells express alpha-smooth muscle actin (αSMA) with fewer cells expressing platelet-derived growth factor α compared with normal stromal cells, suggesting that the mutant stromal cells have acquired a more myofibroblastic phenotype, which have been described as cancer-associated fibroblasts and have been shown to induce carcinogenesis in other organ systems.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 61, "end": 80}], "disease": [{"text": "carcinogenesis", "start": 363, "end": 377}]}, "relations": {}}, "schema": []}
{"input": "Recently, several mutations in CGL have been described in patients with cystathioninuria, a rare but poorly understood genetic disease.", "output": {"entities": {"gene": [{"text": "CGL", "start": 31, "end": 34}], "disease": [{"text": "cystathioninuria", "start": 72, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CGL", "start": 31, "end": 34}, "tail": {"text": "cystathioninuria", "start": 72, "end": 88}}]}}, "schema": []}
{"input": "Comparisons with phenotypic features recently detailed in three kindreds (TOR3, F19, ROM) with codon 717 amyloid precursor protein gene mutations (i. e., APP717 FAD) suggested several distinctions: Prominent progressive aphasia, myoclonus, seizures, and paratonia were all apparently less prevalent in APP717 FAD, with language function predominantly spared over the initial disease course.", "output": {"entities": {"gene": [{"text": "ROM", "start": 85, "end": 88}], "disease": [{"text": "seizures", "start": 240, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Here, we study the role of the different members of the NFI family in regulating endogenous and ectopic B-FABP and GFAP gene transcription in human malignant glioma cells.", "output": {"entities": {"gene": [{"text": "NFI", "start": 56, "end": 59}], "disease": [{"text": "malignant glioma", "start": 148, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, heterozygous members in these pedigrees who carried c. 1114delG mutations in the TYR gene or c. 1426A > G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure.", "output": {"entities": {"gene": [{"text": "OCA2 gene", "start": 138, "end": 147}], "disease": [{"text": "pale skin", "start": 187, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "The goal of this study is to investigate the role of Sirt1 in the activation of MMP-9 in diabetic retinopathy.", "output": {"entities": {"gene": [{"text": "Sirt1", "start": 53, "end": 58}], "disease": [{"text": "diabetic retinopathy", "start": 89, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Sirt1", "start": 53, "end": 58}, "tail": {"text": "diabetic retinopathy", "start": 89, "end": 109}}]}}, "schema": []}
{"input": "Impaired VE-cadherin/beta-catenin expression mediates endothelial cell degeneration in dilated cardiomyopathy.", "output": {"entities": {"gene": [{"text": "VE-cadherin", "start": 9, "end": 20}], "disease": [{"text": "dilated cardiomyopathy", "start": 87, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Thus, our results suggest that the suppression of myasthenia gravis-associated T cell responses exerted by the dual APL is mediated by the CD4 + CD25 + immunoregulatory T cell function via TGF-beta or cytotoxic T lymphocyte-associated antigen 4, which further stimulate a cascade of events that up-regulates apoptosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 139, "end": 142}], "disease": [{"text": "myasthenia gravis", "start": 50, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Neuronal transport defects of the MAP6 KO mouse-a model of schizophrenia-and alleviation by Epothilone D treatment, as observed using MEMRI.", "output": {"entities": {"gene": [{"text": "MAP6", "start": 34, "end": 38}], "disease": [{"text": "schizophrenia", "start": 59, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAP6", "start": 34, "end": 38}, "tail": {"text": "schizophrenia", "start": 59, "end": 72}}]}}, "schema": []}
{"input": "We also found that enhanced DBH-AS1 expression inhibited serum starvation-induced apoptosis of HCC cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 95, "end": 98}], "disease": [{"text": "starvation", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we conducted a reverse transcription-polymerase chain reaction assay to detect the FUS-CREB3L2 fusion transcripts using formalin-fixed, paraffin-embedded tumor tissue specimens from 16 LGFMSs including 3 cases with giant collagen rosettes.", "output": {"entities": {"gene": [{"text": "FUS", "start": 105, "end": 108}], "disease": [{"text": "giant", "start": 237, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "These observations challenge the prevailing view that MDR bacteria are less fit than drug-susceptible bacteria and indicate that Acr1 is dispensable for bacterial growth in the human lung.", "output": {"entities": {"gene": [{"text": "Acr1", "start": 129, "end": 133}], "disease": [{"text": "fit", "start": 76, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Both the appearance of cytoplasmic inclusions containing phosphorylated TAR DNA-binding protein (TDP-43) and inefficient RNA editing at the GluR2 Q/R site are molecular abnormalities observed specifically in motor neurons of patients with sporadic amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "GluR2", "start": 140, "end": 145}], "disease": [{"text": "abnormalities", "start": 169, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "We show that dopaminergic neurons are specifically sensitive to hyperoxia induced oxidative stress and that mutant forms of alpha-synuclein show an enhanced toxicity under these conditions suggesting synergic interactions.", "output": {"entities": {"gene": [{"text": "alpha-synuclein", "start": 124, "end": 139}], "disease": [{"text": "hyperoxia", "start": 64, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The genomic instability of BRCA1-mutated tumors can be effectively targeted with DNA-damaging agents and poly-(ADP-ribose) polymerase 1 (PARP1) inhibitors.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 27, "end": 32}], "disease": [{"text": "genomic instability", "start": 4, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, glycogenic acanthosis of the esophagus is highly predictive of CS and the presence of PTEN mutation.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 101, "end": 105}], "disease": [{"text": "acanthosis", "start": 26, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-& #954; B pathway in cilia.", "output": {"entities": {"gene": [{"text": "WDR34", "start": 0, "end": 5}], "disease": [{"text": "short-rib polydactyly syndrome type III", "start": 27, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WDR34", "start": 0, "end": 5}, "tail": {"text": "short-rib polydactyly syndrome type III", "start": 27, "end": 66}}]}}, "schema": []}
{"input": "A novel type of pituitary-specific transcription factor, Prophet of Pit-1 (Prop-1) gene (PROP1), expresses in just early embryonic stage in mouse and closely related as a causative gene in combined pituitary hormone deficiency.", "output": {"entities": {"gene": [{"text": "Pit-1", "start": 68, "end": 73}], "disease": [{"text": "pituitary hormone deficiency", "start": 198, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "The only major Ras effector pathway not explored for its role in melanoma is the RalGEF-Ral pathway, in which Ras activation of RalGEFs converts the small GTPases RalA and RalB to an active guanosine triphosphate-bound state.", "output": {"entities": {"gene": [{"text": "RalB", "start": 172, "end": 176}], "disease": [{"text": "melanoma", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In univariable analysis, IL-18 levels associated with traditional cardiovascular risk factors and particularly with components of the metabolic syndrome (MS, P < 0. 01 for trend across the number of MS components); IL-18 also associated with coronary artery calcium (CAC) scores measured by electron beam computed tomography and aortic plaque measured by MRI (P < 0. 01 for each).", "output": {"entities": {"gene": [{"text": "CAC", "start": 267, "end": 270}], "disease": [{"text": "plaque", "start": 336, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "Conversely, TNF-alpha receptor 2 shedding was negatively associated with insulin sensitivity (r =-0. 54, P = 0. 03), whereas shedding of L-selectin showed no significant association.", "output": {"entities": {"gene": [{"text": "L-selectin", "start": 137, "end": 147}], "disease": [{"text": "insulin sensitivity", "start": 73, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "positive for any of these fusion transcripts (TRMT11-GRIK2, SLC45A2-AMACR, MTOR-TP53BP1, LRRC59-FLJ60017, TMEM135-CCDC67, KDM4-AC011523. 2, MAN2A1-FER, and CCNH-C5orf30) experienced PCa recurrence, metastases, and/or PCa-specific death after radical prostatectomy.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 156, "end": 160}], "disease": [{"text": "metastases", "start": 198, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "The allelic association test for rs11200638 on the promoter of HTRA1 yielded p-values less than 10 (-10) for geographic atrophy, less than 10 (-16) for neovascularization, and less than 10 (-19) for the pooled phenotypes (with an odds ration [OR] of 3. 973; 95% confidence interval [CI] 2. 928, 5. 390).", "output": {"entities": {"gene": [{"text": "HTRA1", "start": 63, "end": 68}], "disease": [{"text": "neovascularization", "start": 152, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Elevated CREB produced increases in intracranial self-stimulation thresholds, a depressive-like sign reflecting anhedonia (decreased sensitivity to reward), whereas disruption of CREB function by expression of a dominant-negative CREB had the opposite effect.", "output": {"entities": {"gene": [{"text": "CREB", "start": 9, "end": 13}], "disease": [{"text": "anhedonia", "start": 112, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration.", "output": {"entities": {"gene": [{"text": "WDR73", "start": 117, "end": 122}], "disease": [{"text": "retinopathy", "start": 37, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "To investigate the association of single nucleotide polymorphisms (SNPs) in NOS3 (G894T, T-786C, and a variable number of tandem repetitions VNTR in intron 4), MMP2 (C-1306T), and MMP9 (C-1562T) genes with preeclampsia in patients from Southeastern Brazil.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 76, "end": 80}], "disease": [{"text": "preeclampsia", "start": 206, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "The results indicate a statistically significant interaction effect of DRD2-141 and FREQ genotypes on abstinence at the end of the NRT treatment phase; 62% of the smokers with at least one copy of the DRD2-141 Del allele and two copies of the FREQ rs1054879 A allele were abstinent from smoking, compared to 29-38% abstinence rates for other smokers in the trial.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 71, "end": 75}], "disease": [{"text": "smoking", "start": 287, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "There is a role for podoplanin in tumorigenesis and malignant progression in ESCC.", "output": {"entities": {"gene": [{"text": "podoplanin", "start": 20, "end": 30}], "disease": [{"text": "tumorigenesis", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Defects of DNA mismatch repair (MMR) cause the high level microsatellite instability (MSI-H) phenotype.", "output": {"entities": {"gene": [{"text": "MMR", "start": 32, "end": 35}], "disease": [{"text": "microsatellite instability", "start": 58, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Using cell culture experiments, tissue analysis, molecular profiling, and animal studies, we report here that SOX2 promotes cell proliferation and tumorigenesis by facilitating the G (1)/S transition and through its transcription regulation of the CCND1 gene in breast cancer cells.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 110, "end": 114}], "disease": [{"text": "tumorigenesis", "start": 147, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease.", "output": {"entities": {"gene": [{"text": "marenostrin", "start": 58, "end": 69}], "disease": [{"text": "FMF", "start": 102, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "marenostrin", "start": 58, "end": 69}, "tail": {"text": "FMF", "start": 102, "end": 105}}]}}, "schema": []}
{"input": "Angiogenic factors such as VEGFR2 (vascular endothelial cell growth factor receptor 2), Bcl-2 (a prosurvival and proangiogenic signaling molecule), and chemokine (C-X-C motif) ligand 1 (CXCL1) (a proangiogenic chemokine) may have critical roles in enhancing the establishment of apical periodontitis.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 88, "end": 93}], "disease": [{"text": "apical periodontitis", "start": 279, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Vascular permeability factor/vascular endothelial growth factor (VPF/VEGF), the critical molecule in tumor angiogenesis, is regulated by different stimuli, such as hypoxia and oncogenes, and also by growth factors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 69, "end": 73}], "disease": [{"text": "hypoxia", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The epithelial-mesenchymal transition (EMT) induced by chemotherapeutic agents promotes malignant tumor progression; however, the mechanism underlying the drug-induced EMT remains unclear.", "output": {"entities": {"gene": [{"text": "EMT", "start": 39, "end": 42}], "disease": [{"text": "tumor progression", "start": 98, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the expression of mutant IDH1 and FAS proteins in 10 non-neoplastic and 52 neoplastic lesions.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 37, "end": 41}], "disease": [{"text": "non-neoplastic", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Our data support the notion that among gastrointestinal MALT lymphomas, t (14; 18)-(IgH; Bcl-2) translocation clusters in HCV-positive patients sustaining the role of HCV infection in the lymphoma development.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 89, "end": 94}], "disease": [{"text": "translocation", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "RORgamma-expressing Th17 cells induce murine chronic intestinal inflammation via redundant effects of IL-17A and IL-17F.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 113, "end": 119}], "disease": [{"text": "inflammation", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "]), and not kinase dead AKT1 (179M) or AKT3 (177M), was capable of blocking invasion induced by either human epidermal growth factor receptor-2 (HER-2) overexpression or by activation of PI3-K. Taken together, these data indicate that AKT2 mediates PI3-K-dependent effects on adhesion, motility, invasion, and metastasis in vivo.", "output": {"entities": {"gene": [{"text": "PI3", "start": 187, "end": 190}], "disease": [{"text": "metastasis", "start": 310, "end": 320}]}, "relations": {}}, "schema": []}
{"input": "Although the neurotoxins, oxidative/metabolic stress and impaired activity of neurotrophic factors are believed to be underlying reasons for the development of HAD, the genomic basis, which ultimately defines the virus-host interaction and leads to neurologic manifestation of HIV disease is lacking.", "output": {"entities": {"gene": [{"text": "HAD", "start": 160, "end": 163}], "disease": [{"text": "neurologic manifestation", "start": 249, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "We sought to identify the molecular defect in four unrelated patients who were thought to have PHP-Ia because of PTH and TSH resistance and mild AHO features.", "output": {"entities": {"gene": [{"text": "PTH", "start": 113, "end": 116}], "disease": [{"text": "mild", "start": 140, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "As a result, five missense mutations in SOD1, namely, p. D101N, p. D101G, p. C111Y, p. N86S and p. V87A, were identified in three unrelated familial probands and three sporadic cases; two mutations in FUS were found in two unrelated familial probands, including an insertion mutation (p. P525_Y526insY) and a missense mutation (p. R521H); no variants of TARDBP were observed in patients.", "output": {"entities": {"gene": [{"text": "FUS", "start": 201, "end": 204}], "disease": [{"text": "sporadic", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "In the present study we observe neuronal apoptosis in association with learning and memory impairment, as well as regional brain alterations in Bcl-2 expression in rats chronically exposed to Al.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 144, "end": 149}], "disease": [{"text": "memory impairment", "start": 84, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 144, "end": 149}, "tail": {"text": "memory impairment", "start": 84, "end": 101}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization (FISH) analysis using the LSI EWSR1 break-apart probe and a reverse transcription polymerase chain reaction (RT-PCR) assay optimized for formalin-fixed paraffin-embedded tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types and the EWSR1/CREB1 variant was performed.", "output": {"entities": {"gene": [{"text": "FISH", "start": 36, "end": 40}], "disease": [{"text": "clear cell sarcoma", "start": 251, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "A translocation resulting in a fusion of ETV6 (TEL) gene at 12p13 and CBFA2 (AML1) gene at 21q22 is variably reported in 16-36% of cases of childhood acute lymphoblastic leukemia (ALL).", "output": {"entities": {"gene": [{"text": "AML1", "start": 77, "end": 81}], "disease": [{"text": "translocation", "start": 2, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Recent studies of murine knockouts of key genes in the microdeleted region, LIM kinase 1 (LIMK1) and cytoplasmatic linker protein 2 (CYLN2), demonstrated significant functional and metabolic abnormalities, but grossly normal structure, in the hippocampal formation (HF).", "output": {"entities": {"gene": [{"text": "LIMK1", "start": 90, "end": 95}], "disease": [{"text": "abnormalities", "start": 191, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Putative predictive biomarkers of survival in patients with metastatic pancreatic adenocarcinoma treated with gemcitabine and ganitumab, an IGF1R inhibitor.", "output": {"entities": {"gene": [{"text": "IGF1R", "start": 140, "end": 145}], "disease": [{"text": "metastatic pancreatic adenocarcinoma", "start": 60, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "mRNA and protein levels of TNFalpha, IL-12 (p35), IL-12 (p40), IL-15, IL-18 and IL-23 (p19) were quantified in biopsies from active CD patients, CD patients on a gluten-free diet (GFD), healthy controls, and patients with non-CD inflammation and mild histological changes in the intestine.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 70, "end": 75}], "disease": [{"text": "mild", "start": 246, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Gene dosage and in situ hybridization analysis indicate that only two copies of the INSR locus are present in 697 cells, one on the translocation chromosome and one on the normal chromosome 19.", "output": {"entities": {"gene": [{"text": "INSR", "start": 84, "end": 88}], "disease": [{"text": "translocation", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Screening for microsatellite instability identifies frequent 3'-untranslated region mutation of the RB1-inducible coiled-coil 1 gene in colon tumors.", "output": {"entities": {"gene": [{"text": "RB1-inducible coiled-coil 1 gene", "start": 100, "end": 132}], "disease": [{"text": "microsatellite instability", "start": 14, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Familial hyperaldosteronism type II is not glucocorticoid-remediable, and is clinically, biochemically and morphologically indistinguishable from apparently sporadic PAL.", "output": {"entities": {"gene": [{"text": "PAL", "start": 166, "end": 169}], "disease": [{"text": "sporadic", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Mouse OPCs with genetic Wnt dysregulation (high tone) express multiple genes in common with colon cancer, including Lef1, Sp5, Ets2, Rnf43 and Dusp4.", "output": {"entities": {"gene": [{"text": "Sp5", "start": 122, "end": 125}], "disease": [{"text": "colon cancer", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "CXCR4 and CCR5 genetic polymorphisms in long-term nonprogressive human immunodeficiency virus infection: lack of association with mutations other than CCR5-Delta32.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 0, "end": 5}], "disease": [{"text": "nonprogressive", "start": 50, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Both TGF-β and hypoxia concomitantly induced H19 and miR-675 with the induction of EMT markers.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 5, "end": 10}], "disease": [{"text": "hypoxia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "The study identified and characterized three of these proteins, namely peroxiredoxin-6, & #946;-actin and collagen & #945;-1 (VI) as potentially prospective biomarkers for early detection of lung cancer.", "output": {"entities": {"gene": [{"text": "peroxiredoxin-6", "start": 71, "end": 86}], "disease": [{"text": "lung cancer", "start": 191, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "peroxiredoxin-6", "start": 71, "end": 86}, "tail": {"text": "lung cancer", "start": 191, "end": 202}}]}}, "schema": []}
{"input": "Small molecule 1'-acetoxychavicol acetate suppresses breast tumor metastasis by regulating the SHP-1/STAT3/MMPs signaling pathway.", "output": {"entities": {"gene": [{"text": "SHP-1", "start": 95, "end": 100}], "disease": [{"text": "breast tumor", "start": 53, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Reconstitution studies were performed with T cells from mucosa-associated lymphoid tissue lymphoma-translocation gene 1-deficient (Malt1 (-/-)) mice.", "output": {"entities": {"gene": [{"text": "Malt1", "start": 131, "end": 136}], "disease": [{"text": "translocation", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We used the qualitative Hanssen technique in albino rats to seek morphologic demonstration of tubular obstruction in two types of acute renal failure: one induced by folic acid and another by methemoglobin.", "output": {"entities": {"gene": [{"text": "methemoglobin", "start": 192, "end": 205}], "disease": [{"text": "acute renal failure", "start": 130, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "methemoglobin", "start": 192, "end": 205}, "tail": {"text": "acute renal failure", "start": 130, "end": 149}}]}}, "schema": []}
{"input": "Therefore, both alleles of the FMO3 gene for individual 2 were affected by mutations abolishing the catalytic activity of the enzyme, explaining the severe TMAU condition.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 31, "end": 35}], "disease": [{"text": "TMAU", "start": 156, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMO3", "start": 31, "end": 35}, "tail": {"text": "TMAU", "start": 156, "end": 160}}]}}, "schema": []}
{"input": "New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.", "output": {"entities": {"gene": [{"text": "EP300", "start": 110, "end": 115}], "disease": [{"text": "ADC", "start": 75, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EP300", "start": 110, "end": 115}, "tail": {"text": "ADC", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "Our data indicate that in addition to Foxp3 (+) Treg cells, CD4 (+) T cells acquire HLA-G from decidual DCs and may play an important role in immune tolerance induction in pregnancy, a process which is impaired in pre-eclampsia.", "output": {"entities": {"gene": [{"text": "Foxp3", "start": 38, "end": 43}], "disease": [{"text": "pre-eclampsia", "start": 214, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Applying whole-exome sequencing we here identify a missense change (p. V1184A) in NaV1. 9, which leads to cold-aggravated peripheral pain in humans.", "output": {"entities": {"gene": [{"text": "NaV1. 9", "start": 82, "end": 89}], "disease": [{"text": "cold", "start": 106, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In humans, loss-of-function mutations in the gene coding for guanylyl cyclase-B (GC-B), the specific receptor for CNP, have been proved to be the cause of acromesomelic dysplasia, type Maroteaux, one form of human skeletal dysplasias.", "output": {"entities": {"gene": [{"text": "CNP", "start": 114, "end": 117}], "disease": [{"text": "acromesomelic dysplasia", "start": 155, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that the spectrum of LAMB2-associated disorders is broader than previously anticipated and includes congenital nephrotic syndrome without eye anomalies or with minor ocular changes different from those observed in Pierson syndrome.", "output": {"entities": {"gene": [{"text": "LAMB2", "start": 48, "end": 53}], "disease": [{"text": "Pierson syndrome", "start": 241, "end": 257}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LAMB2", "start": 48, "end": 53}, "tail": {"text": "Pierson syndrome", "start": 241, "end": 257}}]}}, "schema": []}
{"input": "Thus, imbalance in ADNP/ADNP2 expression in the brain may impact disease progression in schizophrenia.", "output": {"entities": {"gene": [{"text": "ADNP2", "start": 24, "end": 29}], "disease": [{"text": "schizophrenia", "start": 88, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADNP2", "start": 24, "end": 29}, "tail": {"text": "schizophrenia", "start": 88, "end": 101}}]}}, "schema": []}
{"input": "PTEN and p27 expressions decreased in hyperplasia and carcinoma cases with respect to proliferative endometrium.", "output": {"entities": {"gene": [{"text": "p27", "start": 9, "end": 12}], "disease": [{"text": "hyperplasia", "start": 38, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Both high fit and low fit discordant response groups showed high reconstitution of naïve CD4 CD45RA T cells (median 388 and 357 cells/microl, respectively).", "output": {"entities": {"gene": [{"text": "CD4", "start": 89, "end": 92}], "disease": [{"text": "fit", "start": 10, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that the N-carbamyl-beta-amino aciduria in these patients is due to a deficiency of beta-ureidopropionase, which is caused by mutations in the UPB1 gene.", "output": {"entities": {"gene": [{"text": "UPB1", "start": 167, "end": 171}], "disease": [{"text": "deficiency of beta-ureidopropionase", "start": 94, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UPB1", "start": 167, "end": 171}, "tail": {"text": "deficiency of beta-ureidopropionase", "start": 94, "end": 129}}]}}, "schema": []}
{"input": "The activity of TXS was increased in lung cancer.", "output": {"entities": {"gene": [{"text": "TXS", "start": 16, "end": 19}], "disease": [{"text": "lung cancer", "start": 37, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The positive results have suggested that DGCR14 is likely to play an important role in the etiology of schizophrenia in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "DGCR14", "start": 41, "end": 47}], "disease": [{"text": "schizophrenia", "start": 103, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DGCR14", "start": 41, "end": 47}, "tail": {"text": "schizophrenia", "start": 103, "end": 116}}]}}, "schema": []}
{"input": "The NPL regression and ordered subset analyses suggest that the evidence for linkage significantly increased with early onset of ESRD (2q32. 1 LOD = 3. 89, 13q13. 1 LOD = 3. 90), increased BMI (8p22 LOD = 3. 37, 13q33. 3 LOD = 5. 20, 18p11. 3 LOD = 2. 38), early onset of hypertension (14q21. 1 LOD = 3. 19, 20q13. 2 LOD = 2. 32), and late onset of hypertension (4q13. 1 LOD = 3. 44, 5p15. 33 LOD = 2. 82).", "output": {"entities": {"gene": [{"text": "NPL", "start": 4, "end": 7}], "disease": [{"text": "regression", "start": 8, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "We have performed AR gene molecular analysis in several members of a large family with KD as well as in 25 sporadic patients suffering from heterogeneous motoneuron disease (MND).", "output": {"entities": {"gene": [{"text": "AR gene", "start": 18, "end": 25}], "disease": [{"text": "sporadic", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Inactivating mutations in the TSH receptor can be associated with severe TSH resistance presenting as congenital hypothyroidism with apparent athyreosis.", "output": {"entities": {"gene": [{"text": "TSH receptor", "start": 30, "end": 42}], "disease": [{"text": "TSH resistance", "start": 73, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSH receptor", "start": 30, "end": 42}, "tail": {"text": "TSH resistance", "start": 73, "end": 87}}]}}, "schema": []}
{"input": "Autosomal recessive, partial GINS1 deficiency impairs DNA replication and underlies intra-uterine (and postnatal) growth retardation, chronic neutropenia, and NK cell deficiency.", "output": {"entities": {"gene": [{"text": "GINS1", "start": 29, "end": 34}], "disease": [{"text": "chronic neutropenia", "start": 134, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GINS1", "start": 29, "end": 34}, "tail": {"text": "chronic neutropenia", "start": 134, "end": 153}}]}}, "schema": []}
{"input": "The risk allele of C3 was observed to carry a significant risk in the simultaneous absence of homozygous CFH and HTRA1 polymorphisms only, in which case it was associated with a near-five-fold relative increase in the odds of dry type AMD (OR = 4. 93, 95% CI: 1. 98-12. 25, p = 0. 0006).", "output": {"entities": {"gene": [{"text": "CFH", "start": 105, "end": 108}], "disease": [{"text": "dry", "start": 226, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Pirt (-/-) mice exhibit decreased behavioural responses to cold and cool temperatures, and Pirt increases the sensitivity of TRPM8 to menthol and cool temperature.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 125, "end": 130}], "disease": [{"text": "cold", "start": 59, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The hypoxia-dependent activation of the NF-κB/HIF-1α/VEGF pathway contributes, at least in part, to gastric cancer promotion via enhancement of angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 53, "end": 57}], "disease": [{"text": "hypoxia", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "The duplicated region on chromosome 16 spans the entire genome-wide association studies risk locus for obesity, and further encompasses RBL2, AKTIP, RPGRIP1L and all but the last exon of the FTO gene.", "output": {"entities": {"gene": [{"text": "RBL2", "start": 136, "end": 140}], "disease": [{"text": "obesity", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41, 504 subjects from the Scandinavian HUNT, MDC, and MPP studies.", "output": {"entities": {"gene": [{"text": "MDC", "start": 125, "end": 128}], "disease": [{"text": "weight gain", "start": 26, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The administration of EIPA, an NHE inhibitor, attenuated validated markers of intestinal contractile dysfunction induced by edema as measured by decreased STAT-3 activation, increased MLC phosphorylation, improved intestinal contractile activity, and enhanced intestinal transit.", "output": {"entities": {"gene": [{"text": "MLC", "start": 184, "end": 187}], "disease": [{"text": "edema", "start": 124, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Additionally, the tumor volume and weight in MCF-7/HAP1 + RT group were observably lower than in MCF-7/HAP1 group and MCF-7/Pb + RT group.", "output": {"entities": {"gene": [{"text": "HAP1", "start": 51, "end": 55}], "disease": [{"text": "weight", "start": 35, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The frequency of FUS mutations is approximately 1. 0% in our SOD1-, ANG-, TARDBP-mutation-negative sporadic ALS cohort and similar to that reported in previous studies from Asia in our familial ALS cohort.", "output": {"entities": {"gene": [{"text": "FUS", "start": 17, "end": 20}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Taken together, we suggest that antagonism of the MCHR1 receptor may provide a novel approach for the treatment of affective disorders, including depression, with a potentially increased efficacy in women.", "output": {"entities": {"gene": [{"text": "MCHR1", "start": 50, "end": 55}], "disease": [{"text": "affective disorders", "start": 115, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCHR1", "start": 50, "end": 55}, "tail": {"text": "affective disorders", "start": 115, "end": 134}}]}}, "schema": []}
{"input": "We demonstrate that WAT NNMT expression is regulated in human insulin resistance and type 2 diabetes and that plasma MNA correlates with increased tissue NNMT expression and the degree of insulin resistance, making it a potential biomarker for loss of insulin sensitivity.", "output": {"entities": {"gene": [{"text": "NNMT", "start": 24, "end": 28}], "disease": [{"text": "insulin sensitivity", "start": 252, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest the alteration of HDAC5 and CREB gene expression in the systemic pathophysiology of major depression.", "output": {"entities": {"gene": [{"text": "HDAC5", "start": 38, "end": 43}], "disease": [{"text": "major depression", "start": 104, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC5", "start": 38, "end": 43}, "tail": {"text": "major depression", "start": 104, "end": 120}}]}}, "schema": []}
{"input": "We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein.", "output": {"entities": {"gene": [{"text": "TMEM216", "start": 86, "end": 93}], "disease": [{"text": "JBTS2", "start": 35, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM216", "start": 86, "end": 93}, "tail": {"text": "JBTS2", "start": 35, "end": 40}}]}}, "schema": []}
{"input": "These results provide the first evidence that the anti-oral cancer effects of MAA may involve a mechanism through the mitochondrial dependent pathway.", "output": {"entities": {"gene": [{"text": "MAA", "start": 78, "end": 81}], "disease": [{"text": "oral cancer", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Thus in rheumatoid arthritis, the capacity of synovial fibroblasts in the hypoxic environment to secrete large amounts of VEGF in response to cytokines such as TGF-beta probably contributes significantly to angiogenesis in the synovium.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 160, "end": 168}], "disease": [{"text": "hypoxic", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the administration of SN28 together with the suppression of YAP using statins is a promising strategy for enhancing the treatment response in HCC patients, particularly in advanced stage HCC cases presenting hypoxic resistance.", "output": {"entities": {"gene": [{"text": "YAP", "start": 87, "end": 90}], "disease": [{"text": "hypoxic", "start": 235, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Angiotensin II (490 ng & #183; kg & lt; sup & gt;-1 & lt;/sup & gt; & #183; min & lt; sup & gt;-1 & lt;/sup & gt;) or deoxycorticosterone acetate (DOCA) salt-induced mouse hypertensive models in genetic ablation, pharmacologic inhibition of CXCR2, and adoptive bone marrow transfer mice were used to determine the role of CXCR2 in hypertension (measured by radiotelemetry and tail-cuff system), inflammation (verified by flow cytometry and quantitative real-time polymerase chain reaction [PCR] analysis), vascular remodeling (studied by haematoxylin and eosin and Masson' s trichrome staining), vascular dysfunction (assessed by aortic ring), and oxidative stress (indicated by nicotinamide adenine dinucleotide phosphate [NADPH] oxidase activity, dihydroethidium staining, and quantitative real-time PCR analysis).", "output": {"entities": {"gene": [{"text": "Angiotensin II", "start": 0, "end": 14}], "disease": [{"text": "vascular remodeling", "start": 506, "end": 525}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angiotensin II", "start": 0, "end": 14}, "tail": {"text": "vascular remodeling", "start": 506, "end": 525}}]}}, "schema": []}
{"input": "Additionally, we demonstrate for the first time a critical contribution of miR-22 and miR-29b microRNAs in the inhibition of Mat1a and Mthfr gene expression during 2-AAF-induced rat hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "Mthfr gene", "start": 135, "end": 145}], "disease": [{"text": "hepatocarcinogenesis", "start": 182, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Molecular subtyping of DR4 + and DR14 + subjects showed a highly significant association between the DRB1 * 1401 and both pemphigus vulgaris (p < 0. 0001) and pemphigus foliaceus patients (p < 0. 0001) together with a significant increase of the linked DQB1 * 0503 (pemphigus vulgaris p < 0. 0001; pemphigus foliaceus p < 0. 0001).", "output": {"entities": {"gene": [{"text": "DR4", "start": 23, "end": 26}], "disease": [{"text": "pemphigus vulgaris", "start": 122, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 19, "end": 23}], "disease": [{"text": "Weaver syndrome", "start": 50, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EZH2", "start": 19, "end": 23}, "tail": {"text": "Weaver syndrome", "start": 50, "end": 65}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the distribution of angiotensin converting enzyme (ACE), angiotensinogen (AGT) and angiotensin receptor type 1 (ATR1) genetic polymorphisms in children affected by chronic renal failure due to renal hypodysplasia associated with posterior urethral valves or without urethral abnormalities.", "output": {"entities": {"gene": [{"text": "ATR1", "start": 153, "end": 157}], "disease": [{"text": "abnormalities", "start": 316, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that adenovirus expressing a FKHRL1 triple mutant could be a useful vector for gene therapy of cancers resistant to chemotherapy and radiotherapy induced by hyperactivity of PI3K/Akt.", "output": {"entities": {"gene": [{"text": "FKHRL1", "start": 46, "end": 52}], "disease": [{"text": "adenovirus", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "MeCP2 deficiency disrupts axonal guidance, fasciculation, and targeting by altering Semaphorin 3F function.", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 0, "end": 5}], "disease": [{"text": "fasciculation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In this study we demonstrate that, surprisingly, animals lacking enkephalin (preproenkephalin, Penk1 (-/-)) showed no depression-related phenotype in the Porsolt forced swimming or tail suspension tests.", "output": {"entities": {"gene": [{"text": "preproenkephalin", "start": 77, "end": 93}], "disease": [{"text": "depression", "start": 118, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "preproenkephalin", "start": 77, "end": 93}, "tail": {"text": "depression", "start": 118, "end": 128}}]}}, "schema": []}
{"input": "Although the spatial and temporal evolution of central autonomic pathology in MSA is unknown our findings corroborate the utility of the (PLP)-alpha SYN transgenic mouse model as a testbed for the study of oligodendroglial alpha SYN mediated neurodegeneration replicating both motor and non-motor aspects of MSA.", "output": {"entities": {"gene": [{"text": "PLP", "start": 138, "end": 141}], "disease": [{"text": "neurodegeneration", "start": 242, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Multiple lymphomatous polyposis (MLP), characterized by multiple polyps involving long segments of the gastrointestinal (GI) tract, is believed to represent GI involvement by mantle cell lymphoma (MCL), primarily based on its histologic and immunophenotypic similarities with MCL.", "output": {"entities": {"gene": [{"text": "MLP", "start": 33, "end": 36}], "disease": [{"text": "multiple polyps", "start": 56, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We screened 26 sporadic SBH females and 11 LIS/SBH families for DCX mutations by direct sequencing.", "output": {"entities": {"gene": [{"text": "DCX", "start": 64, "end": 67}], "disease": [{"text": "sporadic", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "In addition, we observed a significant increase in total and active TGF-beta in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia.", "output": {"entities": {"gene": [{"text": "SMAD2", "start": 149, "end": 154}], "disease": [{"text": "geleophysic dysplasia", "start": 192, "end": 213}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMAD2", "start": 149, "end": 154}, "tail": {"text": "geleophysic dysplasia", "start": 192, "end": 213}}]}}, "schema": []}
{"input": "The upregulation of several of these genes, IFITM1, IFITM2, IFITM3, APOL1 (Apolipoprotein L1), ADORA2A (adenosine receptor 2A), IGFBP4 and CD163 were validated in the schizophrenia subjects using data from the SNCID database and with quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "IFITM1", "start": 44, "end": 50}], "disease": [{"text": "schizophrenia", "start": 167, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "This enabled us to dissect the molecular functions of intracellular and extracellular LOXL2s and examine their contributions to breast cancer metastasis/invasion.", "output": {"entities": {"gene": [{"text": "LOXL2", "start": 86, "end": 91}], "disease": [{"text": "breast cancer", "start": 128, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LOXL2", "start": 86, "end": 91}, "tail": {"text": "breast cancer", "start": 128, "end": 141}}]}}, "schema": []}
{"input": "Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 59, "end": 63}], "disease": [{"text": "waardenburg syndrome type I", "start": 90, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX3", "start": 59, "end": 63}, "tail": {"text": "waardenburg syndrome type I", "start": 90, "end": 117}}]}}, "schema": []}
{"input": "In benign soft-tissue tumors, 1 chemodectoma and 1 neurothekeoma showed low MRP expression; however, no case showed co-expression of MRP and MDR1.", "output": {"entities": {"gene": [{"text": "MRP", "start": 76, "end": 79}], "disease": [{"text": "chemodectoma", "start": 32, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that CRF receptor antagonists may be useful for the treatment of the disease states where CRF is elevated such as anxiety and depression, anorexia nervosa and stroke and that ligand inhibitors of CRF-BP may be used to elevate brain levels of' free' urocortin and other CRF-related peptides.", "output": {"entities": {"gene": [{"text": "CRF-BP", "start": 216, "end": 222}], "disease": [{"text": "depression", "start": 146, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF-BP", "start": 216, "end": 222}, "tail": {"text": "depression", "start": 146, "end": 156}}]}}, "schema": []}
{"input": "Both gain-and loss-of-function studies revealed that miR-29 could sensitize HCC cells to apoptosis that was triggered by either serum starvation and hypoxia or chemotherapeutic drugs, which mimicked the tumor growth environment in vivo and the clinical treatment.", "output": {"entities": {"gene": [{"text": "HCC", "start": 76, "end": 79}], "disease": [{"text": "starvation", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In 16 sarcoidosis, 7 idiopathic pulmonary fibrosis (IPF) and 8 hypersensitivity pneumonitis (HP) patients we evaluated IL-1 alpha,-1R,-1RA,-2,-4,-4R alpha,-6,-10,-12, IFN-gamma, TGF-beta1 and TNF-alpha gene polymorphisms in peripheral blood, and MCP-1, MIP-1 alpha, MIP-1 beta, RANTES, ENA-78, FGF, G-CSF, GM-CSF, IFN-gamma, IL-1 alpha, IL-1RA, IL-1 beta,-2,-4,-5,-6,-8,-10,-17, TNF-alpha, Tpo and VEGF values in BALF.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 196, "end": 206}], "disease": [{"text": "hypersensitivity pneumonitis", "start": 63, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "This is the first case of ameloblastic carcinoma with a mutation of the p53 gene that has been associated with carcinomatous transformation.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 72, "end": 80}], "disease": [{"text": "ameloblastic carcinoma", "start": 26, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The translocation results in the fusion of two known genes, ETV6/TEL (12p13) and AML1 (21q22), both of which have been shown to be involved in other hematological malignancies.", "output": {"entities": {"gene": [{"text": "AML1", "start": 81, "end": 85}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The expression of C-JUN and C-FOS was higher in keloid fibroblasts treated with 370 microM genistein and lower in keloid fibroblasts treated with 37 microM genistein.", "output": {"entities": {"gene": [{"text": "C-FOS", "start": 28, "end": 33}], "disease": [{"text": "keloid", "start": 48, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In all subjects testosterone, dehydroepiandrosterone sulfate (DHEAS), sex hormone binding globulin (SHBG), cortisol (basal and after dexamethasone), concentrations of GR protein, phospo-GR211 protein, number of GR per cell (B (max) and its equilibrium dissociation constant (K (D)) were measured.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 100, "end": 104}], "disease": [{"text": "dissociation", "start": 252, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Using reverse transcription and the polymerase chain reaction (RT-PCR), we determined the level of expression of BCL-2/IgH in 18 follicular center cell lymphomas containing a t (14; 18) translocation involving the major breakpoint region and five non-neoplastic lymph nodes.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 113, "end": 118}], "disease": [{"text": "translocation", "start": 186, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "One hundred and seventy-two cases of adipocytic tumors, comprising 98 cases of lipoma and 74 cases of liposarcoma, were analyzed for the possible expression of HMGA2-LPP, LPP-HMGA2, TLS-CHOP and EWS-CHOP fusion genes, using a reverse-transcription polymerase chain reaction method.", "output": {"entities": {"gene": [{"text": "EWS", "start": 195, "end": 198}], "disease": [{"text": "lipoma", "start": 79, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Ultrasound-targeted microbubble destruction delivery of the VEGF gene resulted in decreased infarct areas, increased vessel density, and reduced apoptosis versus controls.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 60, "end": 64}], "disease": [{"text": "infarct", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Regarding the combination of the Apo epsilon4 allele and allele 1 of the alpha-SYN promoter polymorphism, a highly significant difference between the group of PD patients and control individuals has been found, suggesting interactions or combined actions of these proteins in the pathogenesis of sporadic PD.", "output": {"entities": {"gene": [{"text": "SYN", "start": 79, "end": 82}], "disease": [{"text": "sporadic", "start": 296, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "The coffee diterpene kahweol sensitizes TRAIL-induced apoptosis in renal carcinoma Caki cells through down-regulation of Bcl-2 and c-FLIP.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 40, "end": 45}], "disease": [{"text": "renal carcinoma", "start": 67, "end": 82}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRAIL", "start": 40, "end": 45}, "tail": {"text": "renal carcinoma", "start": 67, "end": 82}}]}}, "schema": []}
{"input": "In defined ethnic groups, this NOS3 may offer predictive information regarding the subsequent development of preeclampsia and its clinical course.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 31, "end": 35}], "disease": [{"text": "preeclampsia", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "High-throughput immunohistochemical profiling of primary brain tumors and non-neoplastic systemic organs with a specific antibody against the mutant isocitrate dehydrogenase 1 R132H protein.", "output": {"entities": {"gene": [{"text": "isocitrate dehydrogenase 1", "start": 149, "end": 175}], "disease": [{"text": "non-neoplastic", "start": 74, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "However, it is not clear how OS is involved in the regulation of SAC and contributes to carcinogenesis associated with aneuploidy.", "output": {"entities": {"gene": [{"text": "SAC", "start": 65, "end": 68}], "disease": [{"text": "aneuploidy", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Dual PI3K/MAPK pathway activation and compensatory signaling in both rhabdomyosarcoma subtypes predict a lack of clinical efficacy for single agents targeting either pathway, supporting a therapeutic strategy combining a TORC1/2 with a MEK inhibitor.", "output": {"entities": {"gene": [{"text": "TORC1", "start": 221, "end": 226}], "disease": [{"text": "rhabdomyosarcoma", "start": 69, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The present study reports the development of I-45-BTZ-R, a bortezomib-resistant cell line, from the bortezomib-sensitive mesothelioma cell line I-45.", "output": {"entities": {"gene": [{"text": "BTZ", "start": 50, "end": 53}], "disease": [{"text": "mesothelioma", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The MUT cells showed hypersensitivity to PI3K inhibition.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 41, "end": 45}], "disease": [{"text": "hypersensitivity", "start": 21, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the association of 30 SNPs spanning SORL1 with MRI measures of general cerebral atrophy, hippocampal atrophy, white matter hyperintensities, and overall cerebrovascular disease in 44 African American and 182 white sibships from the MIRAGE Study.", "output": {"entities": {"gene": [{"text": "MRI", "start": 60, "end": 63}], "disease": [{"text": "cerebrovascular disease", "start": 166, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Moreover, IL-17A-induced expression of MMP2 and MMP9 under hypoxia was accompanied by increased activation of nuclear factor-κB (NF-κB)/hypoxia-inducible factor-1α (HIF-1α).", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 10, "end": 16}], "disease": [{"text": "hypoxia", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "On applying one-way analysis of variance to different ACE gene polymorphic groups in patients with MS were not significantly associated to ACE gene polymorphism and waist circumference, systolic blood pressure, diastolic blood pressure, fasting blood glucose, HDL, and LDL (p < 0. 05).", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 54, "end": 62}], "disease": [{"text": "waist circumference", "start": 165, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "The cytochrome mono-oxygenase, CYP2D6, is the autoantigen associated with type 2 autoimmune hepatitis, and it shares homologies with multiple viruses that might promote self-intolerance by molecular mimicry.", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 31, "end": 37}], "disease": [{"text": "mono", "start": 15, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway.", "output": {"entities": {"gene": [{"text": "VCP", "start": 18, "end": 21}], "disease": [{"text": "IBMPFD", "start": 33, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VCP", "start": 18, "end": 21}, "tail": {"text": "IBMPFD", "start": 33, "end": 39}}]}}, "schema": []}
{"input": "The codon 232 variant PrP (methionine to arginine) was documented in the CJD patients with typical clinical and pathological findings.", "output": {"entities": {"gene": [{"text": "PrP", "start": 22, "end": 25}], "disease": [{"text": "CJD", "start": 73, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PrP", "start": 22, "end": 25}, "tail": {"text": "CJD", "start": 73, "end": 76}}]}}, "schema": []}
{"input": "These data suggest that GGAA microsatellite polymorphisms in the NR0B1 gene might influence disease susceptibility and prognosis in Ewing sarcoma in unanticipated ways.", "output": {"entities": {"gene": [{"text": "NR0B1 gene", "start": 65, "end": 75}], "disease": [{"text": "sarcoma", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "By detailed phenotypic analysis of our patients, and by critical literature review, we found that homozygous TRAPPC9 loss-of-function mutations cause a distinctive phenotype, characterized by peculiar facial appearance, obesity, hypotonia (all signs resembling a Prader-Willi-like phenotype), moderate-to-severe ID, and consistent brain abnormalities.", "output": {"entities": {"gene": [{"text": "TRAPPC9", "start": 109, "end": 116}], "disease": [{"text": "abnormalities", "start": 337, "end": 350}]}, "relations": {}}, "schema": []}
{"input": "Two of the most frequent early events in meningioma tumorigenesis involve loss of expression of the neurofibromatosis 2 (NF2) and 4. 1B genes.", "output": {"entities": {"gene": [{"text": "4. 1B", "start": 130, "end": 135}], "disease": [{"text": "tumorigenesis", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Socioeconomic variables, dog behavior and the knowledge of the owner regarding the vector were factors associated with canine visceral leishmaniasis (CVL).", "output": {"entities": {"gene": [{"text": "CVL", "start": 150, "end": 153}], "disease": [{"text": "visceral leishmaniasis", "start": 126, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Multivariate logistic analysis showed that diabetes was significantly associated with age (odds ratio: 1. 26), overweight (1. 86), high triglycerides (1. 96), family history of hypertension (1. 86), heart rate (1. 05) and high C-reactive protein (3. 59), and IFG significantly associated with age (odds ratio: 1. 11), low high-density lipoprotein-cholesterol (1. 80), family history of hypertension (1. 60), heart rate (1. 03) and high C-reactive protein (2. 73).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 227, "end": 245}], "disease": [{"text": "heart rate", "start": 199, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "To compare expression of endometrial estrogen (ER) and progesterone (PR) receptors, beta (3)-integrin subunit, leukemia inhibitory factor (LIF), interleukin-6 (IL-6), and pinopodes in Indian women using ormeloxifene as a contraceptive with fertile and infertile subjects during the window of implantation.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 160, "end": 164}], "disease": [{"text": "infertile", "start": 252, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Comparative assessment of matrix metalloproteinase (MMP)-2 and MMP-9, and their inhibitors, tissue inhibitors of metalloproteinase (TIMP)-1 and TIMP-2 in preeclampsia and gestational hypertension.", "output": {"entities": {"gene": [{"text": "TIMP", "start": 132, "end": 136}], "disease": [{"text": "preeclampsia", "start": 154, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "In contrast, no data are available on CXCL13 expression on FDC sarcoma (FDC-S) cells.", "output": {"entities": {"gene": [{"text": "CXCL13", "start": 38, "end": 44}], "disease": [{"text": "sarcoma", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Using hepatoma cells with a dihydrofolate reductase (DHFR) gene amplification and cells transfected with an inducible DHFR transgene, we observed a negative relationship between DHFR expression and resistance to GA.", "output": {"entities": {"gene": [{"text": "DHFR", "start": 53, "end": 57}], "disease": [{"text": "hepatoma", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "CXCL4L1/PF-4var, but not CXCL4/PF-4, was coinduced with the angiogenic chemokine CXCL6/granulocyte chemotactic protein-2 (GCP-2) by cytokines, e. g., IL-1beta and IL-17, in sarcoma cells, but not in diploid fibroblasts.", "output": {"entities": {"gene": [{"text": "GCP-2", "start": 122, "end": 127}], "disease": [{"text": "sarcoma", "start": 173, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.", "output": {"entities": {"gene": [{"text": "MED12", "start": 115, "end": 120}], "disease": [{"text": "hirschsprung disease", "start": 56, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MED12", "start": 115, "end": 120}, "tail": {"text": "hirschsprung disease", "start": 56, "end": 76}}]}}, "schema": []}
{"input": "A498 RCC cells down-regulated COX-2 and up-regulated VEGF under conditions of hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 53, "end": 57}], "disease": [{"text": "hypoxia", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "An ODD-mediated VEGF expression system that facilitates VEGF-production under hypoxia may be useful in the treatment of ischemic heart disease.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 16, "end": 20}], "disease": [{"text": "hypoxia", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Interspecies variation was noted in the sequence and in the expression of the splice variant of the heparanase gene in blind mole rats living under different ecogeographical stresses, indicating a possible role in adaptation to stress in Spalax evolution.", "output": {"entities": {"gene": [{"text": "heparanase gene", "start": 100, "end": 115}], "disease": [{"text": "blind", "start": 119, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "These findings describe a novel and important function of RPN2-mediated CD63 glycosylation, which regulates MDR1 localization and cancer malignancy, including drug resistance and invasion.", "output": {"entities": {"gene": [{"text": "RPN2", "start": 58, "end": 62}], "disease": [{"text": "malignancy", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "A case of an adolescent male with renal-coloboma syndrome (RCS) showing developmental delay is described.", "output": {"entities": {"gene": [{"text": "RCS", "start": 59, "end": 62}], "disease": [{"text": "developmental delay", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.", "output": {"entities": {"gene": [{"text": "TPM3", "start": 74, "end": 78}], "disease": [{"text": "cap myopathy", "start": 54, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPM3", "start": 74, "end": 78}, "tail": {"text": "cap myopathy", "start": 54, "end": 66}}]}}, "schema": []}
{"input": "A notable surprise was that the numerous copy number (CN) changes observed in samples of Asian, non-smoking EGFR mutant NSCLC were nearly the same as those CN alterations seen in a large collection of NSCLC from The Cancer Genome Atlas which is presumably composed of predominantly Caucasians who often smoked.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 108, "end": 112}], "disease": [{"text": "smoking", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Long-term phosphate supplementation as the sole therapy resulted in reversal of all clinical and biochemical abnormalities except the decreased TmP/GFR.", "output": {"entities": {"gene": [{"text": "GFR", "start": 148, "end": 151}], "disease": [{"text": "abnormalities", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Finally, the three carcinoid tumors tested expressed very high levels of 7B2 mRNA.", "output": {"entities": {"gene": [{"text": "7B2", "start": 73, "end": 76}], "disease": [{"text": "carcinoid tumors", "start": 19, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "In a population-based case-control study including 248 cases and 647 controls, the association of laryngeal cancer with 14 single nucleotide polymorphisms (SNPs) in 8 NER genes (XPC, XPA, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6 and RAD23B) was analyzed with respect to smoking and alcohol exposure.", "output": {"entities": {"gene": [{"text": "NER", "start": 167, "end": 170}], "disease": [{"text": "smoking", "start": 263, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that indomethacin might suppress intestinal tumor formation together with a hyperlipidemic state by regulating LPL and other lipid metabolic factors.", "output": {"entities": {"gene": [{"text": "LPL", "start": 134, "end": 137}], "disease": [{"text": "intestinal tumor", "start": 56, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Abnormal neuronal inclusions composed of the transactivation response DNA-binding protein 43 (TDP-43) are characteristic neuropathologic lesions in sporadic and familial forms of amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 70, "end": 89}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 179, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "To determine the effect of pyrrolidine dithiocarbamate (PDTC), a nuclear factor (NF)-kappaB inhibitor, on chemokine and chemokine receptor expression and thus elucidate the role of NF-kappaB in the pathogenesis of experimental autoimmune anterior uveitis (EAAU).", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 181, "end": 190}], "disease": [{"text": "anterior uveitis", "start": 238, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "These results imply that TNFRSF6, in interaction with APOE4, is a genetic risk factor for sporadic EOAD.", "output": {"entities": {"gene": [{"text": "TNFRSF6", "start": 25, "end": 32}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "ERAP1 polymorphism involving residues 528 and 575/725 is associated with ankylosing spondylitis among HLA-B27-positive individuals.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 0, "end": 5}], "disease": [{"text": "spondylitis", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "They also frequently overexpress epidermal growth factor receptor (EGFR) and contain regions of hypoxia, both conditions that can induce VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 137, "end": 141}], "disease": [{"text": "hypoxia", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Disappearance of TAR-DNA-binding protein 43 kDa (TDP-43) from the nucleus contributes to the pathogenesis of amyotrophic lateral sclerosis (ALS), but the nuclear function of TDP-43 is not yet fully understood.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 21, "end": 40}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 109, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Increased interleukin-10 but unchanged insulin sensitivity after 4 weeks of (1, 3) (1, 6)-beta-glycan consumption in overweight humans.", "output": {"entities": {"gene": [{"text": "beta-glycan", "start": 90, "end": 101}], "disease": [{"text": "insulin sensitivity", "start": 39, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "However, mean values of hemoglobin, hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC) were significantly higher in C282Y/C282Y probands (n = 60) than in wild-type control subjects (n = 65).", "output": {"entities": {"gene": [{"text": "MCH", "start": 108, "end": 111}], "disease": [{"text": "mean corpuscular volume", "start": 48, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "XB130 translocation to microfilamentous structures mediates NNK-induced migration of human bronchial epithelial cells.", "output": {"entities": {"gene": [{"text": "XB130", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 6, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that it may be possible to detect the recurring MSH2 and MSH6 mutations in Jewish individuals with familial and sporadic gastric and pancreatic cancer.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 73, "end": 77}], "disease": [{"text": "sporadic", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, both IDO expression on DC and monocytes after IFN-gamma treatment or CTLA-4 treatment were decreased in spontaneous abortion cases.", "output": {"entities": {"gene": [{"text": "IDO", "start": 24, "end": 27}], "disease": [{"text": "spontaneous abortion", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We examined host cell reactivation (HCR) of beta-gal expression for the UVC-treated reporter construct in normal fibroblasts and in xeroderma pigmentosum (XP) and Cockayne syndrome (CS) fibroblasts deficient in GGR, TCR, or both.", "output": {"entities": {"gene": [{"text": "HCR", "start": 36, "end": 39}], "disease": [{"text": "xeroderma pigmentosum", "start": 132, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We also performed molecular characterisation, including DNA fingerprinting analysis and abnormalities of K-ras, p15, p16, p53, hMLH1, hMSH2, DPC4, beta-catenin, E-cadherin, hOGG1, STK11, and TGF-betaRII genes by PCR-SSCP and sequencing analysis.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 161, "end": 171}], "disease": [{"text": "abnormalities", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "CerS2 haploinsufficiency inhibits β-oxidation and confers susceptibility to diet-induced steatohepatitis and insulin resistance.", "output": {"entities": {"gene": [{"text": "CerS2", "start": 0, "end": 5}], "disease": [{"text": "insulin resistance", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Two cases with BCL2 translocation also showed BCL2 expression.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 15, "end": 19}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "We show for the first time that SmgGDS promotes proliferation of pancreatic cancer cells, and we demonstrate that SmgGDS-558 plays a greater role than SmgGDS-607 in cell cycle progression as well as promoting cyclin D1 and suppressing p27 expression in multiple types of cancer.", "output": {"entities": {"gene": [{"text": "SmgGDS", "start": 32, "end": 38}], "disease": [{"text": "pancreatic cancer", "start": 65, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We have localized the CYP27 gene to the q33-qter interval of human chromosome 2, and to mouse chromosome 1, in agreement with the autosomal recessive inheritance pattern of CTX.", "output": {"entities": {"gene": [{"text": "CYP27", "start": 22, "end": 27}], "disease": [{"text": "CTX", "start": 173, "end": 176}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP27", "start": 22, "end": 27}, "tail": {"text": "CTX", "start": 173, "end": 176}}]}}, "schema": []}
{"input": "We further showed that a proinvasive effect of IL-17A on FLSs under hypoxia might be through upregulation of matrix metalloproteinase 2 (MMP2) and MMP9.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 47, "end": 53}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We conclude that GLI1 inactivation is associated with a phenotypic spectrum extending from isolated postaxial polydactyly to an EvC-like condition.", "output": {"entities": {"gene": [{"text": "GLI1", "start": 17, "end": 21}], "disease": [{"text": "EvC", "start": 128, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLI1", "start": 17, "end": 21}, "tail": {"text": "EvC", "start": 128, "end": 131}}]}}, "schema": []}
{"input": "Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 83, "end": 88}], "disease": [{"text": "Wilson disease", "start": 28, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 83, "end": 88}, "tail": {"text": "Wilson disease", "start": 28, "end": 42}}]}}, "schema": []}
{"input": "Up-regulating miR-375 or down-regulating ATG7 inhibited mitochondrial autophagy of HCC cells, reduced the elimination of damaged mitochondria under hypoxia, increased release of mitochondrial apoptotic proteins, and reduced viability of HCC cells.", "output": {"entities": {"gene": [{"text": "ATG7", "start": 41, "end": 45}], "disease": [{"text": "hypoxia", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "We observed four ITGB3-SNPs associated with AAO in SCZ in a non-Genetic Association Information Network (GAIN) sample (p & lt; 10 (-3)).", "output": {"entities": {"gene": [{"text": "ITGB3", "start": 17, "end": 22}], "disease": [{"text": "SCZ", "start": 51, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITGB3", "start": 17, "end": 22}, "tail": {"text": "SCZ", "start": 51, "end": 54}}]}}, "schema": []}
{"input": "Although we were unable to identify a mutation in the protein-coding region of Mlh3 in the susceptible mouse strain, colon tumours from congenic Ccs1 mice exhibit microsatellite instability.", "output": {"entities": {"gene": [{"text": "Mlh3", "start": 79, "end": 83}], "disease": [{"text": "microsatellite instability", "start": 163, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of Danon disease was seen in 6% (3 of 50) of unselected concentric LVH patients who underwent EMB, or 8% (3 of 36) after excluding cardiac amyloidosis through EMB.", "output": {"entities": {"gene": [{"text": "EMB", "start": 109, "end": 112}], "disease": [{"text": "cardiac amyloidosis", "start": 146, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that MOPs play an important facilitatory role in emotional responses to stress, including anxiety-and depression-like behavior and corticosterone levels.", "output": {"entities": {"gene": [{"text": "MOP", "start": 27, "end": 30}], "disease": [{"text": "depression", "start": 124, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MOP", "start": 27, "end": 30}, "tail": {"text": "depression", "start": 124, "end": 134}}]}}, "schema": []}
{"input": "The TLX1 oncogene (encoding the transcription factor T cell leukemia homeobox protein-1) has a major role in the pathogenesis of T cell acute lymphoblastic leukemia (T-ALL).", "output": {"entities": {"gene": [{"text": "transcription factor T", "start": 32, "end": 54}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 136, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "To determine whether this gene is involved in the development of psychosis, we performed a genetic association study of human netrin G1 gene in schizophrenia.", "output": {"entities": {"gene": [{"text": "netrin G1 gene", "start": 126, "end": 140}], "disease": [{"text": "psychosis", "start": 65, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Primary culture of cells from hyperfunctioning thyroid adenoma and its surrounding thyroid tissue revealed that cAMP production was constitutively activated while intracellular Ca2 + concentration was suppressed both at the basal level and in the response to TSH stimulation in the cells from tumor tissue compared with those from non-tumor tissue.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 177, "end": 180}], "disease": [{"text": "adenoma", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "To explore the potential role of natural-resistance-associated macrophage protein 1 (NRAMP1) gene, vitamin D receptor (VDR) gene, (human leukocyte antigen, (HLA-DRB1) HLA)-DRB1 gene, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis (TB) in the Chinese Kazakh population.", "output": {"entities": {"gene": [{"text": "HLA-DQB1 gene", "start": 187, "end": 200}], "disease": [{"text": "susceptibility to tuberculosis", "start": 218, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "These data indicated that, although the reduced INSIG1 expression in cancers was associated with the methylation at the edge of the CGI in the promoter region, the methylation was likely to be a secondary change.", "output": {"entities": {"gene": [{"text": "INSIG1", "start": 48, "end": 54}], "disease": [{"text": "secondary", "start": 195, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "We report reductions in somatostatin and vasoactive intestinal peptide mRNAs in prefrontal and orbitofrontal cortices in bipolar disorder (n = 31) and schizophrenia (n = 35) compared to controls (n = 34) and increased calbindin mRNA in schizophrenia.", "output": {"entities": {"gene": [{"text": "vasoactive intestinal peptide", "start": 41, "end": 70}], "disease": [{"text": "bipolar disorder", "start": 121, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vasoactive intestinal peptide", "start": 41, "end": 70}, "tail": {"text": "bipolar disorder", "start": 121, "end": 137}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the relationship between VDR gene polymorphisms and idiopathic hypocitraturia in a Chinese population.", "output": {"entities": {"gene": [{"text": "VDR gene", "start": 66, "end": 74}], "disease": [{"text": "hypocitraturia", "start": 104, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "However, all 20 cases lacked the t (15; 17) and 17 cases tested lacked the promyelocytic/retinoic acid receptor alpha (RAR alpha) fusion transcript in RT-PCR assays; 12 cases had 46, XX or 46, XY karyotypes, whereas 2 cases had abnormalities of chromosome 17q: 1 with del (17) (q25) and the other with t (11; 17) (q23; q21) and the promyelocytic leukemia zinc finger/RAR alpha fusion transcript.", "output": {"entities": {"gene": [{"text": "promyelocytic leukemia zinc finger", "start": 332, "end": 366}], "disease": [{"text": "abnormalities", "start": 228, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Chemerin is a chemoattractant adipokine that regulates adipogenesis and may induce insulin resistance.", "output": {"entities": {"gene": [{"text": "Chemerin", "start": 0, "end": 8}], "disease": [{"text": "insulin resistance", "start": 83, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Transforming growth factor, beta receptor II (TGFBR2) is mainly expressed by neurons in the central nervous system, and reduced neuronal TGFBR2 signaling results in accelerated age-dependent neurodegeneration.", "output": {"entities": {"gene": [{"text": "TGFBR2", "start": 46, "end": 52}], "disease": [{"text": "neurodegeneration", "start": 191, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "HLA-A, B and DR typing was performed on a total of 236 patients with chronic glomerulonephritis (CGN) which were diagnosed by renal biopsies evaluated by light microscopy, direct immunofluorescent staining and whenever indicated electron microscopy.", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 0, "end": 5}], "disease": [{"text": "chronic glomerulonephritis", "start": 69, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "To understand the mechanisms that generate genome instability mediated by mRNP biogenesis impairment and by AID, we devised a yeast chromosomal system based on different segments of mammalian S regions and c-MYC for the analysis of chromosomal rearrangements in both wild-type and THO mutants.", "output": {"entities": {"gene": [{"text": "AID", "start": 108, "end": 111}], "disease": [{"text": "genome instability", "start": 43, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We have evaluated levels of 6 cytokines in sera of 35 patients of kala azar (KA), 29 post kala azar dermal leishmaniasis (PKDL), and 18 healthy controls using cytometric bead array technology.", "output": {"entities": {"gene": [{"text": "PKDL", "start": 122, "end": 126}], "disease": [{"text": "leishmaniasis", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "These results identify a previously undescribed KCNH2 channel isoform involved in cortical physiology, cognition and psychosis, providing a potential new therapeutic drug target.", "output": {"entities": {"gene": [{"text": "KCNH2", "start": 48, "end": 53}], "disease": [{"text": "psychosis", "start": 117, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCNH2", "start": 48, "end": 53}, "tail": {"text": "psychosis", "start": 117, "end": 126}}]}}, "schema": []}
{"input": "Serum omentin-1 correlated positively with QUICKI but negatively with body weight, BMI, waist and hip circumferences, weight gain, and HOMA-IR.", "output": {"entities": {"gene": [{"text": "omentin", "start": 6, "end": 13}], "disease": [{"text": "body weight", "start": 70, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Peripheral blood from unrelated, consenting registry patients with pheochromocytoma was tested for mutations of RET, VHL, SDHD, and SDHB.", "output": {"entities": {"gene": [{"text": "RET", "start": 112, "end": 115}], "disease": [{"text": "pheochromocytoma", "start": 67, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 112, "end": 115}, "tail": {"text": "pheochromocytoma", "start": 67, "end": 83}}]}}, "schema": []}
{"input": "The majority of subjects in which HSV was detected had low levels of CVL fluid HSV, with no detectable HSV-2 antibodies and were asymptomatic.", "output": {"entities": {"gene": [{"text": "CVL", "start": 69, "end": 72}], "disease": [{"text": "asymptomatic", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The human transcription factor gene, CHOP, which maps to 12q13, was recently shown to be disrupted by the t (12; 16) (q13; p11) in myxoid liposarcoma.", "output": {"entities": {"gene": [{"text": "p11", "start": 123, "end": 126}], "disease": [{"text": "myxoid liposarcoma", "start": 131, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Thus in rheumatoid arthritis, the capacity of synovial fibroblasts in the hypoxic environment to secrete large amounts of VEGF in response to cytokines such as TGF-beta probably contributes significantly to angiogenesis in the synovium.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 122, "end": 126}], "disease": [{"text": "hypoxic", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Mutations in GRIP1 cause classic FS in humans.", "output": {"entities": {"gene": [{"text": "GRIP1", "start": 13, "end": 18}], "disease": [{"text": "FS", "start": 33, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GRIP1", "start": 13, "end": 18}, "tail": {"text": "FS", "start": 33, "end": 35}}]}}, "schema": []}
{"input": "MCTx-1 from Millepora, a homolog of DPT, is identified as a cytotoxin towards leukemia cells.", "output": {"entities": {"gene": [{"text": "DPT", "start": 36, "end": 39}], "disease": [{"text": "leukemia", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The authors describe a Canadian PNKD family who does not have mutations in the MR-1 gene and links to a separate locus at 2q31.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 79, "end": 83}], "disease": [{"text": "PNKD", "start": 32, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MR-1", "start": 79, "end": 83}, "tail": {"text": "PNKD", "start": 32, "end": 36}}]}}, "schema": []}
{"input": "Levels of VEGF-A in conditioned medium (CM) from both cell lines doubled when cultured in hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 10, "end": 16}], "disease": [{"text": "hypoxia", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "p53, the major human tumor suppressor, appears to be related to sonic hedgehog (Shh)-Gli-mediated tumorigenesis.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 64, "end": 78}], "disease": [{"text": "tumorigenesis", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Two-minute topical treatment of TSA on rabbit corneas subjected to-9 D PRK significantly decreased corneal haze in vivo.", "output": {"entities": {"gene": [{"text": "PRK", "start": 71, "end": 74}], "disease": [{"text": "corneal haze", "start": 99, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "After ureteral obstruction, RAMP1, RAMP2, and CRLR gene expressions in the obstructed kidney were markedly upregulated, whereas RAMP3 expression was unchanged.", "output": {"entities": {"gene": [{"text": "RAMP1", "start": 28, "end": 33}], "disease": [{"text": "ureteral obstruction", "start": 6, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We performed comparative genomic hybridization (CGH) on 27 neuroblastomas and dual-color fluorescence in situ hybridization (FISH) to identify genetic aberrations associated with progressive neuroblastoma showing resistance to aggressive treatment.", "output": {"entities": {"gene": [{"text": "FISH", "start": 125, "end": 129}], "disease": [{"text": "neuroblastoma", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "T-cell receptor beta chain gene rearrangement in acute myeloid leukemia always occurs at the allele that contains the undermethylated J beta 1 region.", "output": {"entities": {"gene": [{"text": "T-cell receptor beta chain gene", "start": 0, "end": 31}], "disease": [{"text": "acute myeloid leukemia", "start": 49, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking ERK1 exhibited enhanced fear extinction and reduced depression caused by overactivation of ERK2.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 13, "end": 17}], "disease": [{"text": "depression", "start": 65, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK1", "start": 13, "end": 17}, "tail": {"text": "depression", "start": 65, "end": 75}}]}}, "schema": []}
{"input": "We have used Msx1-deficient mice as a model system that exhibits severe craniofacial abnormalities, including cleft secondary palate and lack of teeth, to study the genetic regulation of mammalian palatogenesis.", "output": {"entities": {"gene": [{"text": "Msx1", "start": 13, "end": 17}], "disease": [{"text": "craniofacial abnormalities", "start": 72, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Msx1", "start": 13, "end": 17}, "tail": {"text": "craniofacial abnormalities", "start": 72, "end": 98}}]}}, "schema": []}
{"input": "Efforts to dissect BPAD have been based on the course of the disorders (BP I versus BP II or rapid cycling), comorbidity pattern (panic attacks, suicide attempts, addiction or hyperactivity), differences between the sexes, and clinical pattern (cycloid and puerperal psychosis).", "output": {"entities": {"gene": [{"text": "BP II", "start": 84, "end": 89}], "disease": [{"text": "BPAD", "start": 19, "end": 23}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BP II", "start": 84, "end": 89}, "tail": {"text": "BPAD", "start": 19, "end": 23}}]}}, "schema": []}
{"input": "In an attempt to identify potential markers of steroid-resistance in focal segmental glomerulosclerosis (FSGS) we evaluated intra-graft gene expression of IkappaBalpha, nuclear factor-kappaB (NF-kappaB), and angiotensinogen in 60 biopsies from 27 pediatric renal transplant recipients.", "output": {"entities": {"gene": [{"text": "IkappaBalpha", "start": 155, "end": 167}], "disease": [{"text": "focal segmental glomerulosclerosis", "start": 69, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Defining the normal range as the mean +/-2 SD of TFPI activity in controls, twelve patients had low post-heparin TFPI activity levels, seven with venous and five with arterial thrombosis.", "output": {"entities": {"gene": [{"text": "TFPI", "start": 49, "end": 53}], "disease": [{"text": "arterial thrombosis", "start": 167, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Arginase (ARG), an enzyme implicated in many cardiovascular diseases, can compete with nitric oxide (NO) synthase for their common substrate, L-arginine.", "output": {"entities": {"gene": [{"text": "ARG", "start": 10, "end": 13}], "disease": [{"text": "cardiovascular diseases", "start": 45, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Thus, in the present study, we evaluated the expression of VEGF and Dll4/Notch signaling molecules, and assessed their association with the microvessel density (CD31) and hypoxia (HIF1a) in lung cancer and normal lung tissues using immunohistochemical and Real-time RT-PCR techniques.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 59, "end": 63}], "disease": [{"text": "hypoxia", "start": 171, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Adipose tissue of DPP4-rats demonstrated increased adipocyte maturation and increased expression of enzymes involved in triglyceride uptake and synthesis, yet increased adiponectin mRNA, reduced mRNA of proinflammatory cytokines and reduced vascular adhesion molecules, suggesting reduced inflammation.", "output": {"entities": {"gene": [{"text": "DPP4", "start": 18, "end": 22}], "disease": [{"text": "adhesion", "start": 250, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "The up-modulation of cell-adhesion molecules (NCAM, ICAM-1 and Thy1) and immune recognition molecules (NCAM, ICAM-1 and MHC class I), associated with reduced growth and tumour cell differentiation, suggests that RA may have a potential role in regulating the growth and development of retinoblastoma tumours.", "output": {"entities": {"gene": [{"text": "Thy1", "start": 63, "end": 67}], "disease": [{"text": "adhesion", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The most common genetic aberration in follicular lymphoma (FL) is the t (14; 18) (q32; q21) translocation that juxtaposes the antiapoptotic BCL2 gene with the promoter of the immunoglobulin heavy-chain (IgH) gene, which is the molecular hallmark of FL, whereas a subset of cases harbor translocations involving the BCL6 gene locus.", "output": {"entities": {"gene": [{"text": "BCL2 gene", "start": 140, "end": 149}], "disease": [{"text": "translocation", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "As compared with wild type, CAV1 knockout mice displayed higher blood pressure levels and higher fasting glucose, insulin, and HOMA-IR levels and an exaggerated glycemic response to a glucose challenge.", "output": {"entities": {"gene": [{"text": "CAV1", "start": 28, "end": 32}], "disease": [{"text": "blood pressure", "start": 64, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We showed that expression of BCR-ABL1 correlates with decreased level of BRCA1 protein, which promoted aberrant mitoses and aneuploidy as well as altered DNA damage response.", "output": {"entities": {"gene": [{"text": "BCR", "start": 29, "end": 32}], "disease": [{"text": "aneuploidy", "start": 124, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We tested two FKBP5 single nucleotide polymorphisms (rs1360780 and rs3800373) in a sample of 246 geriatric patients treated for 8 weeks in a double-blind randomized comparison trial of paroxetine and mirtazapine.", "output": {"entities": {"gene": [{"text": "FKBP5", "start": 14, "end": 19}], "disease": [{"text": "blind", "start": 148, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "It is well established that microsatellite instability (MSI), the hallmark of defective DNA mismatch repair (MMR), is associated with prolonged survival in colorectal cancer compared with tumours that are microsatellite stable (MSS).", "output": {"entities": {"gene": [{"text": "MMR", "start": 109, "end": 112}], "disease": [{"text": "microsatellite instability", "start": 28, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We investigated plasma levels of selected hematopoietic cytokines: stem cell factor (SCF), granulocyte-macrophage colony-stimulating factor (GM-CSF), granulocyte colony-stimulating factor (G-CSF), and macrophage colony-stimulating factor (M-CSF) and the tumor marker cancer antigen (CA 125) in epithelial ovarian cancer patients as compared with control groups: benign ovarian tumor patients (cysts) and healthy subjects.", "output": {"entities": {"gene": [{"text": "M-CSF", "start": 142, "end": 147}], "disease": [{"text": "cysts", "start": 393, "end": 398}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data identify distinct mechanisms underlying ectopic MEF2C expression in T-ALL, either as a downstream target of NKX2-5, or via chromosomal aberrations deleting proximal gene regions.", "output": {"entities": {"gene": [{"text": "NKX2-5", "start": 133, "end": 139}], "disease": [{"text": "chromosomal aberrations", "start": 148, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "To identify the molecular mechanisms of MIA regulating pigmentation, MITF and PAX3, two positive regulators of Trp-1 and tyrosinase transcription, and PIAS3, a negative regulator of MITF activity, were analyzed.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 78, "end": 82}], "disease": [{"text": "pigmentation", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Left ventricular biopsies were taken from explanted hearts of patients with end-stage heart failure due to dilated cardiomyopathy (CMP; n = 15) or ischemic heart disease (CAD; n = 9), and compared with homograft control preparations from organ donors deceased due to non-cardiac causes (n = 7).", "output": {"entities": {"gene": [{"text": "CMP", "start": 131, "end": 134}], "disease": [{"text": "dilated cardiomyopathy", "start": 107, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "DNA from 99 nonimmunocompromised patients with sulfonamide hypersensitivity who were identified from the Personalized Medicine Research Project at the Marshfield Clinic, and from 99 age-matched, race-matched, and sex-matched drug-tolerant controls, were genotyped for four CYB5A and five CYB5R3 polymorphisms, and for all coding NAT2 SNPs.", "output": {"entities": {"gene": [{"text": "CYB5A", "start": 273, "end": 278}], "disease": [{"text": "hypersensitivity", "start": 59, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We propose that increased SAH levels and inflammation affect widespread epigenetic regulation of gene expression in WD.", "output": {"entities": {"gene": [{"text": "SAH", "start": 26, "end": 29}], "disease": [{"text": "inflammation", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Sequencing of candidate genes LMNA, PPARG, AKT2, caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with familial partial lipodystrophy, revealed no genetic abnormalities, suggesting that this case may involve a novel gene.", "output": {"entities": {"gene": [{"text": "caveolin-1", "start": 49, "end": 59}], "disease": [{"text": "familial partial lipodystrophy", "start": 136, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caveolin-1", "start": 49, "end": 59}, "tail": {"text": "familial partial lipodystrophy", "start": 136, "end": 166}}]}}, "schema": []}
{"input": "Identification of p53 genetic alteration may help in diagnosing malignant giant-cell tumor.", "output": {"entities": {"gene": [{"text": "p53", "start": 18, "end": 21}], "disease": [{"text": "giant", "start": 74, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "A case of Fabry' s disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 48, "end": 69}], "disease": [{"text": "Fabry' s disease", "start": 10, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 48, "end": 69}, "tail": {"text": "Fabry' s disease", "start": 10, "end": 26}}]}}, "schema": []}
{"input": "Although disruption of genes related to hematopoiesis often leads to the development of leukemia and lymphoma, the involvement of TIS11D in hematological malignancies remains to be determined.", "output": {"entities": {"gene": [{"text": "TIS11D", "start": 130, "end": 136}], "disease": [{"text": "lymphoma", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Mdr2 (-/-) IKK2 (Hep-KO) mice remarkably recapitulate chronic liver failure in humans and might be of special importance for the study of the mechanisms contributing to the pathogenesis of end-stage chronic liver disease or its implications on other organs.", "output": {"entities": {"gene": [{"text": "Mdr2", "start": 0, "end": 4}], "disease": [{"text": "chronic liver failure", "start": 54, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mdr2", "start": 0, "end": 4}, "tail": {"text": "chronic liver failure", "start": 54, "end": 75}}]}}, "schema": []}
{"input": "The authors analyzed the association between APOE epsilon4 genotype and clinical and MRI findings in 43 refractory temporal lobe epilepsy patients.", "output": {"entities": {"gene": [{"text": "MRI", "start": 85, "end": 88}], "disease": [{"text": "temporal lobe epilepsy", "start": 115, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The SHRs showed significant increase in BP, micturition frequency, and expression of MDA, 4-HNE, Nrf2, and NGF when compared to the control Wistar rats.", "output": {"entities": {"gene": [{"text": "NGF", "start": 107, "end": 110}], "disease": [{"text": "micturition frequency", "start": 44, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "This approach identified several candidate genes, including Acvr1, associated with increased susceptibility to acute lung injury in mice.", "output": {"entities": {"gene": [{"text": "Acvr1", "start": 60, "end": 65}], "disease": [{"text": "acute lung injury", "start": 111, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Acvr1", "start": 60, "end": 65}, "tail": {"text": "acute lung injury", "start": 111, "end": 128}}]}}, "schema": []}
{"input": "We tested 67 Iranian individuals, presenting with low mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) levels, normal hemoglobin electrophoresis and iron status, for the presence of twelve common alpha-thalassemia gene deletions and point mutations.", "output": {"entities": {"gene": [{"text": "MCH", "start": 117, "end": 120}], "disease": [{"text": "mean corpuscular volume", "start": 54, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We propose a model of' conditional haploinsufficiency' for BRCA1/2 under conditions of enhanced DNA damage in precancerous lesions resulting in more robust activation and hence increased selection for inactivation or loss of ATM in tumours of BRCA1/2 mutation carriers, with implications for genomic instability and curability of diverse subsets of human breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 59, "end": 64}], "disease": [{"text": "genomic instability", "start": 292, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have used fluorescence in situ hybridization (FISH) to study four patients with X-chromosomal rearrangements, two with normal height and two with short stature.", "output": {"entities": {"gene": [{"text": "FISH", "start": 71, "end": 75}], "disease": [{"text": "short stature", "start": 171, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "IL-12 was localized in multinucleated giant cells and macrophages of the sarcoid granulomas, whereas IFN-gamma was detected in lymphocytes and vascular endothelial cells.", "output": {"entities": {"gene": [{"text": "IFN", "start": 101, "end": 104}], "disease": [{"text": "granulomas", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "To explore the relation of asbestosis to human 8-oxoguanine DNA glycosidase (hOGG1) genotype and DNA damage, the investigation of hOGG1 polymorphism distribution and DNA strand breakages in peripheral lymphocytes was carried on in occupational population.", "output": {"entities": {"gene": [{"text": "hOGG1", "start": 77, "end": 82}], "disease": [{"text": "asbestosis", "start": 27, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Phosphorylated-DCX induced depolymerization of actin filaments in U87 cells, down-regulated matrix metalloproteinases-2 and-9, and inhibited glioma U87 cell invasion in a neurabin II dependent pathway.", "output": {"entities": {"gene": [{"text": "U87", "start": 66, "end": 69}], "disease": [{"text": "glioma", "start": 141, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "BOVIB history and psychological status were screened by BOVIB-Q, depression (BDI), anxiety (BAI, STAI) and personality (TCI) questionnaires.", "output": {"entities": {"gene": [{"text": "TCI", "start": 120, "end": 123}], "disease": [{"text": "anxiety", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These results suggest the essential role of SCF/KIT signaling in the proliferation of DS-related leukemia and the possibility of therapeutic benefits of imatinib for TL patients.", "output": {"entities": {"gene": [{"text": "SCF", "start": 44, "end": 47}], "disease": [{"text": "leukemia", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The phenomenon that AQP4 had an increased expression in the surrounding region of cerebellar metastatic tumor and, moreover, increased significantly in the region next to the cerebellar metastatic tumor tightly is probably related to the formation of peritumoral brain edema and plays an important role in cytotoxic brain edema mechanism.", "output": {"entities": {"gene": [{"text": "AQP4", "start": 20, "end": 24}], "disease": [{"text": "cytotoxic brain edema", "start": 306, "end": 327}]}, "relations": {}}, "schema": []}
{"input": "Clinical parameters including volumetric assessment of preoperative and postoperative MRI were recorded prospectively on 335 malignant astrocytoma patients: n = 128 anaplastic astrocytomas and n = 207 glioblastoma.", "output": {"entities": {"gene": [{"text": "MRI", "start": 86, "end": 89}], "disease": [{"text": "glioblastoma", "start": 201, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "CCM3Delta proteins interacted with CCM1 and CCM2, but not with other proteins known to bind wild-type CCM3, serine/threonine protein kinase MST4 (MST4), sterile 20-like serine/threonine kinase 24 (STK24), and STK25, all of which have poorly defined biological functions.", "output": {"entities": {"gene": [{"text": "MST4", "start": 140, "end": 144}], "disease": [{"text": "sterile", "start": 153, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to investigate the possible association of AluI and RsaI polymorphisms of estrogen receptor β (ER-β) gene and 23-bp nucleotide repeat polymorphism of estrogen-related receptor α (ERRα) gene with bone mineral density (BMD) in postmenopausal Egyptian women.", "output": {"entities": {"gene": [{"text": "ERRα", "start": 204, "end": 208}], "disease": [{"text": "bone mineral density", "start": 220, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Perinuclear positioning of the inactive human cystic fibrosis gene depends on CTCF, A-type lamins and an active histone deacetylase.", "output": {"entities": {"gene": [{"text": "CTCF", "start": 78, "end": 82}], "disease": [{"text": "cystic fibrosis", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "MEK-dependent Erk1 and Erk2 (hereafter referred to as Erk1/2) signaling is identified as a downstream target of M. leprae-induced ErbB2 activation that mediates demyelination.", "output": {"entities": {"gene": [{"text": "ErbB2", "start": 130, "end": 135}], "disease": [{"text": "demyelination", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Genotypes of FTO were correlated with insulin resistance, and homozygous C/C was positively correlated with an increase in insulin resistance over the value predicted by the increase in BMI.", "output": {"entities": {"gene": [{"text": "FTO", "start": 13, "end": 16}], "disease": [{"text": "insulin resistance", "start": 38, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We have utilized the technique of single strand conformation polymorphism (SSCP) analysis for the btk gene to identify mutations in XLA patients.", "output": {"entities": {"gene": [{"text": "btk", "start": 98, "end": 101}], "disease": [{"text": "XLA", "start": 132, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "btk", "start": 98, "end": 101}, "tail": {"text": "XLA", "start": 132, "end": 135}}]}}, "schema": []}
{"input": "Several mutations of the human gene (called POU1F1) have been shown to be responsible for a phenotype of combined pituitary hormone deficiency involving GH, prolactin (PRL), and TSH.", "output": {"entities": {"gene": [{"text": "POU1F1", "start": 44, "end": 50}], "disease": [{"text": "pituitary hormone deficiency", "start": 114, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Follicular thyroid hyperplasia (FTH) refers to enlargement of the thyroid gland due to cellular hyperplasia.", "output": {"entities": {"gene": [{"text": "FTH", "start": 32, "end": 35}], "disease": [{"text": "hyperplasia", "start": 19, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Tumor specimens were analyzed for BRAF and KRAS mutations, CpG island methylator phenotype-specific promoters (CACNA1G, CDKN2A, IGF2 and RUNX3), IGFBP7, MGMT, MLH1 and RASSF2 methylation, microsatellite instability (MSI) and microRNA-31 (miR-31).", "output": {"entities": {"gene": [{"text": "RASSF2", "start": 168, "end": 174}], "disease": [{"text": "microsatellite instability", "start": 188, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "In addition, our GWAS showed that both rs2075650 and rs157580 were significantly associated with the poliovirus receptor-related 2 (PVRL2) gene (FDR & lt; 0. 25), which is involved in spreading of herpes simplex virus (HSV).", "output": {"entities": {"gene": [{"text": "PVRL2", "start": 132, "end": 137}], "disease": [{"text": "herpes simplex", "start": 197, "end": 211}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PVRL2", "start": 132, "end": 137}, "tail": {"text": "herpes simplex", "start": 197, "end": 211}}]}}, "schema": []}
{"input": "ERRalpha and ERRgamma are promising to be new prognostic factors in endometrial adenocarcinoma.", "output": {"entities": {"gene": [{"text": "ERRalpha", "start": 0, "end": 8}], "disease": [{"text": "endometrial adenocarcinoma", "start": 68, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The human serum protein transthyretin (TTR) is highly fibrillogenic in vitro and is the fibril precursor in both autosomal dominant (familial amyloidotic polyneuropathy [FAP] and familial amyloidotic cardiomyopathy [FAC]) and sporadic (senile systemic amyloidosis [SSA]) forms of human cardiac amyloidosis.", "output": {"entities": {"gene": [{"text": "SSA", "start": 265, "end": 268}], "disease": [{"text": "cardiac amyloidosis", "start": 286, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "This proliferation may be a relevant factor in EBV-associated T-cell malignancies as well as EBV causation of acute infectious mononucleosis (AIM).", "output": {"entities": {"gene": [{"text": "AIM", "start": 142, "end": 145}], "disease": [{"text": "infectious mononucleosis", "start": 116, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Increased PIM1 can also facilitate genomic instability to promote neoplastic processes.", "output": {"entities": {"gene": [{"text": "PIM1", "start": 10, "end": 14}], "disease": [{"text": "genomic instability", "start": 35, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "To assess salivary gland tissues obtained from patients with primary Sjögren' s syndrome (SS) for the gene expression profile of the candidate genes TNFRSF6 (Fas), TNFSF6 (FasL), SSA1 (Ro52 alpha and the splice variant Ro52 beta), SSB (La), CTLA4, PDCD1 (PD-1), and ORM2, which were selected on the basis of their putative participation in salivary gland inflammation.", "output": {"entities": {"gene": [{"text": "CTLA4", "start": 241, "end": 246}], "disease": [{"text": "salivary gland inflammation", "start": 340, "end": 367}]}, "relations": {}}, "schema": []}
{"input": "PCR-based assays were performed to determine LT-alpha-NcoI * 1 and TNF-alpha-308 * 2 genotypes among our subjects, with 128 atopic asthmatics and 51 non-atopic asthmatics, 55 atopic controls, and 78 non-atopic controls in this genetic case-control study.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 67, "end": 76}], "disease": [{"text": "atopic", "start": 124, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Since its discovery from a translocation in leukemias, the runt-related transcription factor 1/acute myelogenous leukemia-1 (RUNX1/AML1), which is widely expressed in hematopoietic cells, has been extensively studied.", "output": {"entities": {"gene": [{"text": "AML1", "start": 131, "end": 135}], "disease": [{"text": "translocation", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The pattern of ERG abnormalities was consistent with the working diagnosis FA.", "output": {"entities": {"gene": [{"text": "ERG", "start": 15, "end": 18}], "disease": [{"text": "abnormalities", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Little is known about GDF-15 as a biomarker in patients with heart failure.", "output": {"entities": {"gene": [{"text": "GDF-15", "start": 22, "end": 28}], "disease": [{"text": "heart failure", "start": 61, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GDF-15", "start": 22, "end": 28}, "tail": {"text": "heart failure", "start": 61, "end": 74}}]}}, "schema": []}
{"input": "Recent studies revealed that several HRMs including let-7 family miRNAs were highly induced in response to HIF (hypoxia-inducible factor) stabilization in hypoxia, and they potently participated in angiogenesis by targeting AGO1 (argonaute 1) and upregulating VEGF (vascular endothelial growth factor).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 260, "end": 264}], "disease": [{"text": "hypoxia", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that expression of the EAATs and the EAAT regulating proteins ARHGEF11, JWA, G-protein suppressor pathway 1 (GPS1), and KIAA0302 are altered in the brain in schizophrenia.", "output": {"entities": {"gene": [{"text": "GPS1", "start": 125, "end": 129}], "disease": [{"text": "schizophrenia", "start": 173, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPS1", "start": 125, "end": 129}, "tail": {"text": "schizophrenia", "start": 173, "end": 186}}]}}, "schema": []}
{"input": "Impaired function of paracellin-1 leads specifically to urinary losses of magnesium and calcium, but because transcellular transport is intact these patients do not have hypokalemia or salt wasting.", "output": {"entities": {"gene": [{"text": "paracellin-1", "start": 21, "end": 33}], "disease": [{"text": "hypokalemia", "start": 170, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We identified 13 common genes (ADARB2, CEACAM6, CNTNAP2, COL19A1, DEF4, DRAXIN, FCER2, HBG1, NCAPG2, PVRL2, SLC2A14, SNCA, and TCL1B) showing significant differential expression between G2019S-associated PD and asymptomatic carriers and also between idiopathic PD and controls but not between untreated and treated patients.", "output": {"entities": {"gene": [{"text": "ADARB2", "start": 31, "end": 37}], "disease": [{"text": "asymptomatic", "start": 211, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Role of regulator of G protein signaling 16 in inflammation-induced T lymphocyte migration and activation.", "output": {"entities": {"gene": [{"text": "regulator of G protein signaling 16", "start": 8, "end": 43}], "disease": [{"text": "inflammation", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Frequencies of-2548G > A LEP (rs7799039), Q223R (rs1137101) and K656N (rs8129183) LEPR, and-11377C > G (rs266729) and-11426A > G (rs16861194) ADIPOQ polymorphisms were analyzed by restriction fragment length polymorphism in 101 obese (standard deviation score [SDS]-body mass index [BMI] > 2) and 67 normal-weight (SDS-BMI <-1 + 1 >) children.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 82, "end": 86}], "disease": [{"text": "weight", "start": 307, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Familial or sporadic male-limited precocious puberty is a distinct and unusual gonadotrophin-independent form of sexual precocity caused by constitutively activating mutations of the luteinizing hormone receptor (LHR).", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 195, "end": 211}], "disease": [{"text": "sporadic", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "One of the causes of combined pituitary hormone deficiency (CPHD) is represented by Prophet of Pit-1 (PROP-1) gene inactivating mutations.", "output": {"entities": {"gene": [{"text": "Pit-1", "start": 95, "end": 100}], "disease": [{"text": "pituitary hormone deficiency", "start": 30, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The epithelial-to-mesenchymal transition (EMT) is a necessary step toward metastatic tumor progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 42, "end": 45}], "disease": [{"text": "tumor progression", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We constructed a high-resolution physical map and contig over 1. 4 Mb that includes the beta-hemoglobin gene cluster and the gene for the large subunit of ribonucleotide reductase (RRM1).", "output": {"entities": {"gene": [{"text": "RRM1", "start": 181, "end": 185}], "disease": [{"text": "hemoglobin", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We screened 63 patients with a clinical diagnosis of CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, and SMARCE1) and identified pathogenic variants in 45 (71%) patients.", "output": {"entities": {"gene": [{"text": "SMARCE1", "start": 121, "end": 128}], "disease": [{"text": "CSS", "start": 53, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCE1", "start": 121, "end": 128}, "tail": {"text": "CSS", "start": 53, "end": 56}}]}}, "schema": []}
{"input": "Consequently, novel strategies targeting and inhibiting VEGF overproduction upon hypoxia offer considerable potential for modern anticancer therapies controlling rather than destroying tumor angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 56, "end": 60}], "disease": [{"text": "hypoxia", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate changes in the hippocampal expression of three different connexins at consecutive developmental stages after acute hypoxia at P10 (10min and 30min after reoxygenation, P11, P14, P17, P29, and P45) as compared to sham manipulated pups.", "output": {"entities": {"gene": [{"text": "P10", "start": 167, "end": 170}], "disease": [{"text": "hypoxia", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Erythropoietin receptor positive cell lines U87 human glioma and MCF-7 human breast carcinoma were studied.", "output": {"entities": {"gene": [{"text": "U87", "start": 44, "end": 47}], "disease": [{"text": "glioma", "start": 54, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gs & #945;-receptor interaction.", "output": {"entities": {"gene": [{"text": "GNAS", "start": 31, "end": 35}], "disease": [{"text": "pseudohypoparathyroidism type Ic", "start": 69, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAS", "start": 31, "end": 35}, "tail": {"text": "pseudohypoparathyroidism type Ic", "start": 69, "end": 101}}]}}, "schema": []}
{"input": "The proportion of lesions positive for PCNA, p53, DFF45, and values of AgNORs parameters steadily increased from hyperplasia to mild, moderate and severe dysplasia, and SCC, especially in those showing positive DNA instability test, indicative of malignancy.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 39, "end": 43}], "disease": [{"text": "hyperplasia", "start": 113, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "A three-locus SNP genotype combination involved in the interactions of COMT and ALDH3B1 genes was detected to be significantly susceptible to schizophrenia.", "output": {"entities": {"gene": [{"text": "ALDH3B1", "start": 80, "end": 87}], "disease": [{"text": "schizophrenia", "start": 142, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALDH3B1", "start": 80, "end": 87}, "tail": {"text": "schizophrenia", "start": 142, "end": 155}}]}}, "schema": []}
{"input": "The transcription factors NF-kappaB and AP-1 are activated by rotavirus infection, but the upstream processes leading to these events are largely unidentified.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 40, "end": 44}], "disease": [{"text": "rotavirus infection", "start": 62, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "LIFR localised to villous and extravillous trophoblast and Fallopian tube epithelium in ectopic pregnancy.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 0, "end": 4}], "disease": [{"text": "ectopic pregnancy", "start": 88, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine the frequency of BRAF mutations in human lung cancer pathogenesis.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 40, "end": 44}], "disease": [{"text": "lung cancer", "start": 64, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRAF", "start": 40, "end": 44}, "tail": {"text": "lung cancer", "start": 64, "end": 75}}]}}, "schema": []}
{"input": "We also report that Ahr-and Vav3-deficient mice display hypertension, tachypnea, and sympathoexcitation.", "output": {"entities": {"gene": [{"text": "Ahr", "start": 20, "end": 23}], "disease": [{"text": "hypertension", "start": 56, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ahr", "start": 20, "end": 23}, "tail": {"text": "hypertension", "start": 56, "end": 68}}]}}, "schema": []}
{"input": "In HCV genotype 2 infected patients carrying the PNPLA3 148M allele, there was significantly increased insulin resistance (P = 0. 023) and lower viral load (P = 0. 005) at baseline as well as the first seven days of antiviral treatment.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 49, "end": 55}], "disease": [{"text": "insulin resistance", "start": 103, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Genome-wide gene expression profiling by MACE (Massive Analysis of cDNA Ends) identified 80 genes to be differentially expressed between HD patients and controls, which could be linked to cardiovascular disease (e. g., KLF6, DUSP6, KLF4), to infection/immune disease (e. g., ZFP36, SOCS3, JUND), and to distinct proatherogenic pathways such as the Toll-like receptor signaling pathway (e. g., IL1B, MYD88, TICAM2), the MAPK signaling pathway (e. g., DUSP1, FOS, HSPA1A), and the chemokine signaling pathway (e. g., RHOA, PAK1, CXCL5).", "output": {"entities": {"gene": [{"text": "KLF4", "start": 232, "end": 236}], "disease": [{"text": "cardiovascular disease", "start": 188, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Using immunohistochemistry and real-time reverse transcription-polymerase chain reaction, we examined the correlation between HIPK2 and HIPK2-related protein expressions and the progression of some cutaneous epithelial neoplasms (i. e., actinic keratosis, Bowen' s disease, keratoacanthoma, squamous cell carcinoma, and basal cell carcinoma).", "output": {"entities": {"gene": [{"text": "HIPK2", "start": 126, "end": 131}], "disease": [{"text": "basal cell carcinoma", "start": 320, "end": 340}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the hippocampal lateralized antinociceptive effect of VIP in OBX rats depends on the hemisphere of injection and suggest that VIP-ergic neurons in the hippocampal CA1 area may play differential role in nociception of rats with a model of depression.", "output": {"entities": {"gene": [{"text": "CA1", "start": 191, "end": 194}], "disease": [{"text": "depression", "start": 266, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "In contrast, FHIT alterations were found in the three RER (+) pancreatic carcinomas screened; two had FHIT homozygous deletions affecting exon 5 and the third had a heterozygous missense mutation (H76N).", "output": {"entities": {"gene": [{"text": "RER", "start": 54, "end": 57}], "disease": [{"text": "carcinomas", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Data show an ischemia/reperfusion-induced decrease in the mRNA levels of the NMDAR NR1, NR2A and NR2B subunits genes, which contrasts with the increase in the CD11b and GFAP mRNA levels.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 159, "end": 164}], "disease": [{"text": "ischemia", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Recently, however, a homozygous nonsense DIAPH1 mutation (c. 2332C4T; p. Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis.", "output": {"entities": {"gene": [{"text": "DIAPH1", "start": 41, "end": 47}], "disease": [{"text": "developmental delay", "start": 188, "end": 207}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DIAPH1", "start": 41, "end": 47}, "tail": {"text": "developmental delay", "start": 188, "end": 207}}]}}, "schema": []}
{"input": "These results further suggest that GRP78 expression level in the tumor cells may serve as a prognostic marker for responsiveness to hormonal therapy based on estrogen starvation and that combination therapy targeting GRP78 may enhance efficacy and reduce resistance.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 35, "end": 40}], "disease": [{"text": "starvation", "start": 167, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "We used whole exome sequencing (WES) to identify the molecular basis of an early-onset mitochondrial syndrome-pathogenic biallelic variants in the HTRA2 gene, encoding a mitochondria-localised serine protease-in five subjects from two unrelated families characterised by seizures, neutropenia, hypotonia and cardio-respiratory problems.", "output": {"entities": {"gene": [{"text": "HTRA2", "start": 147, "end": 152}], "disease": [{"text": "neutropenia", "start": 281, "end": 292}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HTRA2", "start": 147, "end": 152}, "tail": {"text": "neutropenia", "start": 281, "end": 292}}]}}, "schema": []}
{"input": "To observe the expression level of Cubilin in the renal tubules of rats with STZ-induced diabetic nephropathy, to assess its correlation with 24 hours' albuminuria, and to investigate the mechanisms of tubular dysfunction at the early stage of diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "STZ", "start": 77, "end": 80}], "disease": [{"text": "albuminuria", "start": 152, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Risk variant at FTO rs9939609 associated with higher weight-for-height in the healthy children (P =. 001).", "output": {"entities": {"gene": [{"text": "FTO", "start": 16, "end": 19}], "disease": [{"text": "height", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Gastric cancer-specific CTLs specifically lysed autologous and allogeneic HLA-A2. 1 +, HER2/neu + gastric cancer cells, HER2/neu-transfected C1R/A2 cell lines (HLA-A2. 1 +, HER2 +) and HLA-A2. 1-transfected SW626 tumor cell lines (HLA-A2. 1 +, HER2 +).", "output": {"entities": {"gene": [{"text": "C1R", "start": 141, "end": 144}], "disease": [{"text": "gastric cancer", "start": 98, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "To examine whether a relationship exists between genetic polymorphisms of glutathione S-transferase (GST) M1 and T1, CYP1A1 (*) 2C, and male factor infertility.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 117, "end": 123}], "disease": [{"text": "infertility", "start": 148, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The tumor family history of a patient with cafè-au-lait spots (CALS) and early onset adenomas, duodenal cancer, and glioblastoma was positive for colonic adenoma (mother), jejunal (maternal grandfather), lung (father), and colorectal (paternal uncle) cancers.", "output": {"entities": {"gene": [{"text": "CALS", "start": 63, "end": 67}], "disease": [{"text": "duodenal cancer", "start": 95, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Treatment of hypoxic tumor cells with HMGB1 and BzATP ligands, respectively, of RAGE and P2X7R, activated a signaling pathway that, through Akt and Erk phosphorylation, determines nuclear accumulation of NF-κB and increases cell invasion.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 38, "end": 43}], "disease": [{"text": "hypoxic", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 27, "end": 44}], "disease": [{"text": "Reifenstein syndrome", "start": 89, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 27, "end": 44}, "tail": {"text": "Reifenstein syndrome", "start": 89, "end": 109}}]}}, "schema": []}
{"input": "The most common translocation in human lymphoma, the t (14; 18) (q32; q21), generates heterogeneous 4. 2-7. 2 kb Bcl-2-immunoglobulin (Ig) chimeric mRNAs resulting from alternative Bcl-2 5' exons and varied Ig 3' untranslated regions (UT).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 113, "end": 118}], "disease": [{"text": "translocation", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Time lapse microscopy and Transwell migration data show that the absence of both Nischarin and LKB1 from an invasive breast cancer cell line (MDA-MB-231) enhances migration as measured by increased distance and speed of migrating cells.", "output": {"entities": {"gene": [{"text": "Nischarin", "start": 81, "end": 90}], "disease": [{"text": "invasive breast cancer", "start": 108, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Tumor suppressor functions of FOXO transcription factors are lost in cancer cells as a result of chromosomal translocation, deletion, miRNA-mediated repression, AKT-mediated cytoplasmic sequestration or ubiquitination-mediated proteasomal degradation.", "output": {"entities": {"gene": [{"text": "AKT", "start": 161, "end": 164}], "disease": [{"text": "chromosomal translocation", "start": 97, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The pathophysiology and clinical severity of beta-thalassemia are related to the degree of alpha/non-alpha-chain imbalance.", "output": {"entities": {"gene": [{"text": "alpha-chain", "start": 101, "end": 112}], "disease": [{"text": "beta-thalassemia", "start": 45, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Repeated activations of VEGF gene expression under hypoxia were confirmed in HEK293 and C2C12 cells transfected with pVHAVI.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 24, "end": 28}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Confirmation of these findings is needed before the Kozak sequence variant can be accepted as a potential marker for personalized treatment of affective disorders with drugs targeting the metabotropic glutamate receptor 3.", "output": {"entities": {"gene": [{"text": "metabotropic glutamate receptor 3", "start": 188, "end": 221}], "disease": [{"text": "affective disorders", "start": 143, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "metabotropic glutamate receptor 3", "start": 188, "end": 221}, "tail": {"text": "affective disorders", "start": 143, "end": 162}}]}}, "schema": []}
{"input": "Moreover, double-staining experiments demonstrated colocalization of ICAM-1 and B7. 1 molecules in HT, whereas no B7. 1 expression was observed in Graves' or in non-autoimmune thyroid diseases.", "output": {"entities": {"gene": [{"text": "B7. 1", "start": 114, "end": 119}], "disease": [{"text": "thyroid diseases", "start": 176, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The hypoxia-induced increase in VEGF and its receptors was affected by SRIF analogues, with ameliorative effects of octreotide and worsening effects of CYN, which were more pronounced in the presence of sst (2) overexpression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 32, "end": 36}], "disease": [{"text": "hypoxia", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "In order to investigate the role of murine double minute 2 (MDM2) in cell proliferation and carcinogenesis in condyloma acuminatum (CA), immunohistochemistry and in situ hybridization were used to detect the expression of MDM2 protein and mRNA in normal skin and skin lesions of CA of vulva.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 60, "end": 64}], "disease": [{"text": "condyloma acuminatum", "start": 110, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We recently reported that chronic lymphocytic leukemia (CLL) cells synthesize and release vascular endothelial growth factor (VEGF) under normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 126, "end": 130}], "disease": [{"text": "hypoxic", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The preliminary data address the following: low-density lipoproteins and cholesteryl ester transfer protein in amphotericin B renal toxicity; toll-like receptor 1 and 2 in amphotericin B infusion-related ADRs; phosphodiesterase 6 in voriconazole visual adverse events; flavin-containing monooxygenase, glutathione transferases and multidrug resistance proteins 1 and 2 in ketoconazole and terbinafine hepatotoxicity; CYP enzymes and P-glycoprotein in drug interactions between azoles and coadministered medications; multidrug resistance proteins 8 and 9 on 5-flucytosine bone marrow toxicity; and mast cell activation in caspofungin histamine release.", "output": {"entities": {"gene": [{"text": "toll-like receptor 1", "start": 142, "end": 162}], "disease": [{"text": "ADR", "start": 204, "end": 207}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "toll-like receptor 1", "start": 142, "end": 162}, "tail": {"text": "ADR", "start": 204, "end": 207}}]}}, "schema": []}
{"input": "This is the first description of a RIEG1 mutation associated with Peters' anomaly.", "output": {"entities": {"gene": [{"text": "RIEG1", "start": 35, "end": 40}], "disease": [{"text": "Peters' anomaly", "start": 66, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RIEG1", "start": 35, "end": 40}, "tail": {"text": "Peters' anomaly", "start": 66, "end": 81}}]}}, "schema": []}
{"input": "YB-1 knockdown by siRNA upregulated 344 genes, including MDR1, thymidylate synthetase, S100 calcium binding protein and cyclin B, and downregulated 534 genes, including CXCR4, N-myc downstream regulated gene 1, E-cadherin and phospholipase C. Exogenous serum addition stimulated YB-1 translocation from the cytoplasm to the nucleus, and treatment with Akt inhibitors as well as Akt siRNA and integrin-linked kinase (ILK) siRNA specifically blocked YB-1 nuclear localization.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 176, "end": 181}], "disease": [{"text": "translocation", "start": 284, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Assessment of BCL2/J (H) translocation in healthy individuals exposed to low-level radiation of 137CsCl in Goiânia, Goiás, Brazil.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 14, "end": 18}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of the bcl-2 gene as a result of the t (14, 18) translocation leads to neoplastic transformation by suppressing apoptosis.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 22, "end": 32}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "CGRP infusion did not induce an aura in any of the participants.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 0, "end": 4}], "disease": [{"text": "aura", "start": 32, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "FRA8I encompasses KIAA0146, a large protein-coding gene with yet unknown function, as well as CEBPD and part of PRKDC, two genes encoding proteins involved in tumorigenesis in a variety of cancers.", "output": {"entities": {"gene": [{"text": "KIAA0146", "start": 18, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Thus, Netrin-1, Slits and their receptors may contribute to the regenerative failure of axons in the adult CNS by inhibiting axon outgrowth or by participating in the formation of the CNS scar.", "output": {"entities": {"gene": [{"text": "Netrin-1", "start": 6, "end": 14}], "disease": [{"text": "scar", "start": 188, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Role of androgen metabolism genes CYP1B1, PSA/KLK3, and CYP11alpha in prostate cancer risk and aggressiveness.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 34, "end": 40}], "disease": [{"text": "aggressiveness", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The endothelial and stromal expression of zeb1 and the epithelial expression of twist were disturbed in those placentas with chromosomal aberrations.", "output": {"entities": {"gene": [{"text": "zeb1", "start": 42, "end": 46}], "disease": [{"text": "chromosomal aberrations", "start": 125, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We utilized ovarian cancer cell line, Caov3, cells to investigate the effect of paclitaxel on EGFR-mediated MAP kinase and AKT activation, and the expression of survivin.", "output": {"entities": {"gene": [{"text": "AKT", "start": 123, "end": 126}], "disease": [{"text": "ovarian cancer", "start": 12, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKT", "start": 123, "end": 126}, "tail": {"text": "ovarian cancer", "start": 12, "end": 26}}]}}, "schema": []}
{"input": "In the present study, we investigated the mRNA expression levels of HIF-1 (α and β) and its target genes (VEGF, GLUT1, PGK1, PFKFB3, and LDHA) in the peripheral white blood cells of patients with major depressive disorder (MDD) and bipolar disorder (BPD).", "output": {"entities": {"gene": [{"text": "PGK1", "start": 119, "end": 123}], "disease": [{"text": "major depressive disorder", "start": 196, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "To further explore mechanisms of hypoxia-induced PH and reductions in PPARγ, we examined the effects of hypoxia on selected microRNA (miRNA or miR) levels that might reduce PPARγ expression leading to increased ET-1 expression and PH.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 70, "end": 75}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Factor X (FX) activation experiments employing recombinant FVIII-R531G revealed that the activated FVIII-R531G heterotrimer was less stable than normal FVIIIa, apparently due to rapid dissociation of the A2 domain.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 59, "end": 64}], "disease": [{"text": "dissociation", "start": 184, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We observed a dissociation between the in vitro effects of SST-14 or lanreotide on tumor cell proliferation and the effects on GH secretion in human somatotroph tumors.", "output": {"entities": {"gene": [{"text": "SST", "start": 59, "end": 62}], "disease": [{"text": "dissociation", "start": 14, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Results suggested that ERRalpha and ERRgamma might participate in the tumorigenesis of endometrial adenocarcinoma.", "output": {"entities": {"gene": [{"text": "ERRalpha", "start": 23, "end": 31}], "disease": [{"text": "endometrial adenocarcinoma", "start": 87, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Mice homozygous for the mutation showed loss of LMOD1 protein and pathology consistent with MMIHS, including late gestation expansion of the bladder, hydronephrosis, and rapid demise after parturition.", "output": {"entities": {"gene": [{"text": "LMOD1", "start": 48, "end": 53}], "disease": [{"text": "MMIHS", "start": 92, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMOD1", "start": 48, "end": 53}, "tail": {"text": "MMIHS", "start": 92, "end": 97}}]}}, "schema": []}
{"input": "The proinflammatory cytokines IL-17A and IL-17F can mediate inflammation and cancer.", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 41, "end": 47}], "disease": [{"text": "inflammation", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Mutations at Gly-537 account for 4 of 5 HIF2A mutations associated with erythrocytosis.", "output": {"entities": {"gene": [{"text": "HIF2A", "start": 40, "end": 45}], "disease": [{"text": "erythrocytosis", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "To clarify the association between factors regulating DNA methylation and the prognosis of autoimmune thyroid diseases (AITDs), we genotyped single nucleotide polymorphisms in genes encoding DNA methyltransferase 1 (DNMT1), DNMT3A, DNMT3B, methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR), which are enzymes essential for DNA methylation.", "output": {"entities": {"gene": [{"text": "DNMT3B", "start": 232, "end": 238}], "disease": [{"text": "thyroid diseases", "start": 102, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "An increased prevalence of bcl-2 rearrangement (the t (14; 18) translocation) has been shown in patients infected with HCV.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 27, "end": 32}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Consequently, we have performed a large RAD51C mutation screen of hereditary breast and ovarian cancer families, and the first study of unselected patients diagnosed with ovarian cancer.", "output": {"entities": {"gene": [{"text": "RAD51C", "start": 40, "end": 46}], "disease": [{"text": "hereditary breast and ovarian cancer", "start": 66, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAD51C", "start": 40, "end": 46}, "tail": {"text": "hereditary breast and ovarian cancer", "start": 66, "end": 102}}]}}, "schema": []}
{"input": "Here, we show that the replisome factor minichromosome maintenance complex-binding protein (MCMBP), which is directly involved in the dynamics of the minichromosome maintenance complex and contributes to maintaining sister chromatid cohesion, is transcriptionally misregulated in different types of carcinomas.", "output": {"entities": {"gene": [{"text": "MCMBP", "start": 92, "end": 97}], "disease": [{"text": "carcinomas", "start": 299, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "RT-PCR analysis and Western blot assay showed that MTA1 expression is significantly higher in highly metastatic prostate cancer PC-3M-1E8 cells (1E8) than in poorly metastatic prostate cancer PC-3M-2B4 cells (2B4).", "output": {"entities": {"gene": [{"text": "2B4", "start": 198, "end": 201}], "disease": [{"text": "metastatic prostate cancer", "start": 101, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Our observations suggest that CHED caused by homozygous SLC4A11 mutations progresses to Harboyan syndrome, but the severity of this may vary considerably.", "output": {"entities": {"gene": [{"text": "SLC4A11", "start": 56, "end": 63}], "disease": [{"text": "CHED", "start": 30, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC4A11", "start": 56, "end": 63}, "tail": {"text": "CHED", "start": 30, "end": 34}}]}}, "schema": []}
{"input": "The study indicates association of RAS variants with obesity and nephropathy, and an opposite effect of NOS3 VNTR and NOS3 G894T on the occurrence of combined microangiopathy.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 104, "end": 108}], "disease": [{"text": "microangiopathy", "start": 159, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of 16 individuals with one type of TD.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 80, "end": 85}], "disease": [{"text": "TD", "start": 137, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 80, "end": 85}, "tail": {"text": "TD", "start": 137, "end": 139}}]}}, "schema": []}
{"input": "Ichthyosis bullosa of Siemens (IBS; MIM: 146800) is an autosomal dominant disorder of keratinization characterized by epidermolytic hyperkeratosis without erythroderma.", "output": {"entities": {"gene": [{"text": "MIM", "start": 36, "end": 39}], "disease": [{"text": "erythroderma", "start": 155, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Mutations within the pituitary-specific paired-like homeobox gene PROP1 have been described in 50-100% of patients with familial combined pituitary hormone deficiency (CPHD).", "output": {"entities": {"gene": [{"text": "PROP1", "start": 66, "end": 71}], "disease": [{"text": "pituitary hormone deficiency", "start": 138, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Detailed analysis of cells isolated from Ddx11-/-embryos revealed a G2/M cell cycle delay, an increased frequency of chromosome missegregation, decreased chromosome cohesion, and increased aneuploidy.", "output": {"entities": {"gene": [{"text": "Ddx11", "start": 41, "end": 46}], "disease": [{"text": "aneuploidy", "start": 189, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "The proband is a 19-year-old Caucasian woman who initially presented in childhood with lichenoid papules affecting her extensor limbs and intense pruritus consistent with EBP.", "output": {"entities": {"gene": [{"text": "EBP", "start": 171, "end": 174}], "disease": [{"text": "pruritus", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We tested the gene' s contribution to autism by screening its exons in 125 independent autistic probands and genotyping two promoter polymorphisms in 65 autism affected sibling pair (ASP) families.", "output": {"entities": {"gene": [{"text": "ASP", "start": 183, "end": 186}], "disease": [{"text": "autism", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Immunofluorescence performed on skin fibroblasts from a patient with p. Glu134 * confirms the generalized nature of extracellular matrix abnormalities in BCS.", "output": {"entities": {"gene": [{"text": "BCS", "start": 154, "end": 157}], "disease": [{"text": "abnormalities", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We defined' mild' RER as mono-or tetranucleotide repeat instability in the absence of widespread instability at dinucleotide repeats and studied 15 colorectal tumors with this phenotype for mutations in the DNA mismatch repair genes MSH2, MLH1, MSH3, and MSH6.", "output": {"entities": {"gene": [{"text": "RER", "start": 18, "end": 21}], "disease": [{"text": "mild", "start": 12, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "We have recently demonstrated an unequivocal role for scar-associated macrophages (SAMs) in the spontaneous resolution of liver fibrosis and sought to determine whether SAMs are the source of matrix metalloproteinase (MMP) 13 (collagenase 3), considered to be the primary interstitial collagenase in rodents.", "output": {"entities": {"gene": [{"text": "interstitial collagenase", "start": 272, "end": 296}], "disease": [{"text": "scar", "start": 54, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "APJ was expressed in all myocardial samples and myocardium exposed to longer durations of ischemia and cardioplegia expressed higher levels of APJ (p < 0. 05).", "output": {"entities": {"gene": [{"text": "APJ", "start": 0, "end": 3}], "disease": [{"text": "ischemia", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Interspecies trait genetics reveals association of Adcy8 with mouse avoidance behavior and a human mood disorder.", "output": {"entities": {"gene": [{"text": "Adcy8", "start": 51, "end": 56}], "disease": [{"text": "mood disorder", "start": 99, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Adcy8", "start": 51, "end": 56}, "tail": {"text": "mood disorder", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "Immunofluorescence of HGPS fibroblasts with antibodies directed against lamin A revealed that many cells show visible abnormalities of the nuclear membrane.", "output": {"entities": {"gene": [{"text": "lamin", "start": 72, "end": 77}], "disease": [{"text": "HGPS", "start": 22, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lamin", "start": 72, "end": 77}, "tail": {"text": "HGPS", "start": 22, "end": 26}}]}}, "schema": []}
{"input": "Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome.", "output": {"entities": {"gene": [{"text": "TMEM138", "start": 40, "end": 47}], "disease": [{"text": "Joubert syndrome", "start": 119, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TMEM138", "start": 40, "end": 47}, "tail": {"text": "Joubert syndrome", "start": 119, "end": 135}}]}}, "schema": []}
{"input": "Transforming growth factor-beta 1 messenger RNA was slightly more expressed by involuted hemangiomas (117 +/-30 cells/mm2).", "output": {"entities": {"gene": [{"text": "mm2", "start": 118, "end": 121}], "disease": [{"text": "hemangiomas", "start": 89, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Comparison with two other coexpressed mutant/normal channels suggests that the I4898T mutation produces one of the most abnormal RyR1 channels yet investigated, and this level of abnormality is reflected in the severe and penetrant phenotype of affected central core disease individuals.", "output": {"entities": {"gene": [{"text": "RyR1", "start": 129, "end": 133}], "disease": [{"text": "central core disease", "start": 254, "end": 274}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RyR1", "start": 129, "end": 133}, "tail": {"text": "central core disease", "start": 254, "end": 274}}]}}, "schema": []}
{"input": "Additionally, the modulating effects of different MBL expression genotypes [high level (HL) versus intermediate or low level (IL/LL)] on arterial stiffness in different groups were assessed.", "output": {"entities": {"gene": [{"text": "MBL", "start": 50, "end": 53}], "disease": [{"text": "arterial stiffness", "start": 137, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "One result of this translocation is a fusion between the AML1, MDS1, and EVI1 genes, which encodes a transcription factor of approximately 200 kDa.", "output": {"entities": {"gene": [{"text": "AML1", "start": 57, "end": 61}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Expression of the bcl-2 oncogene protein is not specific for the 14; 18 chromosomal translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 18, "end": 23}], "disease": [{"text": "chromosomal translocation", "start": 72, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In contrast to AD, different CCL checkpoint proteins, which include p53, CHEK1 and BRCA1 were significantly downregulated in SZ.", "output": {"entities": {"gene": [{"text": "CHEK1", "start": 73, "end": 78}], "disease": [{"text": "SZ", "start": 125, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHEK1", "start": 73, "end": 78}, "tail": {"text": "SZ", "start": 125, "end": 127}}]}}, "schema": []}
{"input": "Trichostatin A, a histone deacetylase inhibitor, activates the IGFBP-3 promoter by upregulating Sp1 activity in hepatoma cells: alteration of the Sp1/Sp3/HDAC1 multiprotein complex.", "output": {"entities": {"gene": [{"text": "HDAC1", "start": 154, "end": 159}], "disease": [{"text": "hepatoma", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "FLCs contain mutations and chromosomal aberrations not previously associated with liver cancer, and almost 80% contain the DNAJB1-PRKACA fusion transcript.", "output": {"entities": {"gene": [{"text": "PRKACA", "start": 130, "end": 136}], "disease": [{"text": "chromosomal aberrations", "start": 27, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "TRAIL expression and infiltration by CD11c + cells was abundant in perilesional vitiligo skin.", "output": {"entities": {"gene": [{"text": "CD11c", "start": 37, "end": 42}], "disease": [{"text": "vitiligo", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "On establishing a relation between TTV infection with other hepatitis viral infections, TTV demonstrated co-infection with HBV, HCV and HEV in these disease groups.", "output": {"entities": {"gene": [{"text": "TTV", "start": 35, "end": 38}], "disease": [{"text": "viral infections", "start": 70, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Additionally, pioglitazone significantly enhanced carcinoid cell death induced by tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL).", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 145, "end": 150}], "disease": [{"text": "carcinoid", "start": 50, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We investigated ALK protein expression, phosphorylation, and genetic aberrations using fluorescence in situ hybridization (FISH) in 81 soft tissue tumor samples: inflammatory myofibroblastic tumor, n = 1; alveolar soft part sarcoma, n = 2; leiomyosarcoma, n = 10; well-differentiated liposarcoma, n = 7; pleomorphic liposarcoma, n = 2; extraskeletal osteosarcoma, n = 1; epithelioid sarcoma, n = 1; synovial sarcoma, n = 4; malignant peripheral nerve sheath tumor, n = 4; undifferentiated pleomorphic sarcoma, n = 19; rhabdomyosarcoma, n = 6; myxofibrosarcoma, n = 8; myxoid liposarcoma, n = 11; fibrosarcoma, n = 4; and desmoid-type fibromatosis, n = 1.", "output": {"entities": {"gene": [{"text": "FISH", "start": 123, "end": 127}], "disease": [{"text": "undifferentiated pleomorphic sarcoma", "start": 472, "end": 508}]}, "relations": {}}, "schema": []}
{"input": "Inactivation of FAT1 via mutation therefore promotes Wnt signaling and tumorigenesis and affects patient survival.", "output": {"entities": {"gene": [{"text": "FAT1", "start": 16, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Alpha-1-antichymotrypsin (ACT) is a component of plaque cores, can bind to Abeta, and has been proposed as a possible candidate gene for AD susceptibility.", "output": {"entities": {"gene": [{"text": "ACT", "start": 26, "end": 29}], "disease": [{"text": "plaque", "start": 49, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Mutations causing SAM syndrome resulted in lack of membrane expression of DSG1, leading to loss of cell-cell adhesion.", "output": {"entities": {"gene": [{"text": "DSG1", "start": 74, "end": 78}], "disease": [{"text": "SAM syndrome", "start": 18, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DSG1", "start": 74, "end": 78}, "tail": {"text": "SAM syndrome", "start": 18, "end": 30}}]}}, "schema": []}
{"input": "The DNA was amplified with primers specific for the major break point region of the t (14; 18) translocation, and the presence of the bcl-2 oncogene was correlated with clinical, cytomorphologic, histologic and immunologic findings.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 134, "end": 139}], "disease": [{"text": "translocation", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In addition, we also report a high frequency of cryptic chromosomal RUNX1 translocation to a novel recently described gene partner, PRDM16 on chromosome 1p36, for 3 (21. 4%) of 14 investigated patients: 2 myeloid BC CMLs and, for the first time, 1 therapy-related BCR-ABL + ALL.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 68, "end": 73}], "disease": [{"text": "translocation", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "No mutations were found in SPTLC3, but we identified three heterozygous missense mutations in the SPTLC2 subunit of SPT in four families presenting with a typical HSAN-I phenotype.", "output": {"entities": {"gene": [{"text": "SPTLC2", "start": 98, "end": 104}], "disease": [{"text": "HSAN-I", "start": 163, "end": 169}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPTLC2", "start": 98, "end": 104}, "tail": {"text": "HSAN-I", "start": 163, "end": 169}}]}}, "schema": []}
{"input": "However, by 8 months, the liver: body weight ratios had normalized in both TGF-alpha single transgenic and TGF-alpha/Bcl-2 double transgenic mice.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 117, "end": 122}], "disease": [{"text": "body weight", "start": 33, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).", "output": {"entities": {"gene": [{"text": "GATA2", "start": 13, "end": 18}], "disease": [{"text": "Emberger syndrome", "start": 104, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATA2", "start": 13, "end": 18}, "tail": {"text": "Emberger syndrome", "start": 104, "end": 121}}]}}, "schema": []}
{"input": "Epithelial derived CTGF promotes breast tumor progression via inducing EMT and collagen I fibers deposition.", "output": {"entities": {"gene": [{"text": "EMT", "start": 71, "end": 74}], "disease": [{"text": "tumor progression", "start": 40, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "As NMDA receptors have been implicated in the pathogenesis of epilepsy, we were interested in determining whether GRINA mapped to the same region of chromosome 8 as BFNC.", "output": {"entities": {"gene": [{"text": "GRINA", "start": 114, "end": 119}], "disease": [{"text": "epilepsy", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Of the 22 tumor suppressor genes examined, aberrant methylation was observed for 9 genes: tumor protein p73 (TP73), fragile histidine triad (FHIT), von Hippel-Lindau (VHL), adenomatosis polyposis coli (APC), estrogen receptor 1 (ESR1), cyclin-dependent kinase inhibitor 2B (CDKN2B), death-associated protein kinase 1 (DAPK1), glutathione S-transferase pi (GSTP1), and immunoglobin superfamily, member 4 (IGSF4).", "output": {"entities": {"gene": [{"text": "IGSF4", "start": 404, "end": 409}], "disease": [{"text": "adenomatosis", "start": 173, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "These data agree with previous reports in postmortem brain of cocaine abusers and provide support for an association between alpha synuclein and cocaine dependence.", "output": {"entities": {"gene": [{"text": "alpha synuclein", "start": 125, "end": 140}], "disease": [{"text": "cocaine dependence", "start": 145, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha synuclein", "start": 125, "end": 140}, "tail": {"text": "cocaine dependence", "start": 145, "end": 163}}]}}, "schema": []}
{"input": "Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.", "output": {"entities": {"gene": [{"text": "IHH", "start": 13, "end": 16}], "disease": [{"text": "brachydactyly type A-1", "start": 50, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IHH", "start": 13, "end": 16}, "tail": {"text": "brachydactyly type A-1", "start": 50, "end": 72}}]}}, "schema": []}
{"input": "We investigated CSF IL-6 and GFAP concentrations in 13 NMO spectrum disorder (NMOSD) patients at initial attacks, 24 idiopathic central nervous system inflammatory disease patients (9 optic neuritis, 9 myelitis and 6 encephalitis) and 20 other non-inflammatory neurological disorders (ONNDs) patients, retrospectively.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 20, "end": 24}], "disease": [{"text": "myelitis", "start": 202, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Nonsyndromic cleft of the lip and/or palate (CLP or orofacial cleft) derives from an embryopathy with consequent failure of the nasal process and/or palatal shelves fusion.", "output": {"entities": {"gene": [{"text": "CLP", "start": 45, "end": 48}], "disease": [{"text": "orofacial cleft", "start": 52, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Expression analysis demonstrated that addition of bevacizumab under hypoxic conditions induced VEGF-A, GLUT-1 and HIF-1α in B16F10 cells as well as in UM cell lines and two of four primary UM tumor cultures.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 95, "end": 101}], "disease": [{"text": "hypoxic", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The expression of CDC42EP3 mRNA was significantly increased by 19. 7%, and SEPT7 mRNA was significantly decreased by 6. 9% in subjects with schizophrenia.", "output": {"entities": {"gene": [{"text": "SEPT7", "start": 75, "end": 80}], "disease": [{"text": "schizophrenia", "start": 140, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEPT7", "start": 75, "end": 80}, "tail": {"text": "schizophrenia", "start": 140, "end": 153}}]}}, "schema": []}
{"input": "In China, FUS mutations have been reported in several familial ALS pedigrees but not in sporadic ALS cases.", "output": {"entities": {"gene": [{"text": "FUS", "start": 10, "end": 13}], "disease": [{"text": "sporadic", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis showed that SPARC expression was downregulated or absent in 17 of 20 colon cancers.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 41, "end": 46}], "disease": [{"text": "colon cancers", "start": 98, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SPARC", "start": 41, "end": 46}, "tail": {"text": "colon cancers", "start": 98, "end": 111}}]}}, "schema": []}
{"input": "We analyzed the intracellular localization of these active WND ATP7B variant proteins using transient transfection of Chinese hamster ovary cells and triple-label immunofluorescence microscopy, as a second possible aspect of defective function.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 63, "end": 68}], "disease": [{"text": "WND", "start": 59, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 63, "end": 68}, "tail": {"text": "WND", "start": 59, "end": 62}}]}}, "schema": []}
{"input": "Secondary, we analysed 38 brain metastases of primary breast carcinomas and detected a significantly reduced expression of PROX1 compared to normal breast tissue (p & lt; 0. 001) and primary breast carcinomas (p & lt; 0. 05), respectively.", "output": {"entities": {"gene": [{"text": "PROX1", "start": 123, "end": 128}], "disease": [{"text": "metastases", "start": 32, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PROX1", "start": 123, "end": 128}, "tail": {"text": "metastases", "start": 32, "end": 42}}]}}, "schema": []}
{"input": "The ability of KCC009 to interfere with the permissive remodeling of fibronectin in the ECM in glioblastomas suggests a novel target to enhance sensitivity to chemotherapy directed not only at the tumor mass, but also invading glioblastoma cells.", "output": {"entities": {"gene": [{"text": "fibronectin", "start": 69, "end": 80}], "disease": [{"text": "glioblastoma", "start": 95, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "fibronectin", "start": 69, "end": 80}, "tail": {"text": "glioblastoma", "start": 95, "end": 107}}]}}, "schema": []}
{"input": "The objective of this study was to investigate the effects of prostaglandin E (2) (PGE (2)) on the expression of vascular endothelial growth factor (VEGF) and hypoxia-inducible transcription factor-1 alpha (HIF-1alpha) genes in epithelial ovarian cancer (EOC) cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 149, "end": 153}], "disease": [{"text": "hypoxia", "start": 159, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The aim was to quantify ER mRNA expression in left ventricular specimens from patients with coronary heart disease (CHD, n = 15) and dilated cardiomyopathy (CMP, n = 38) and compare their levels with those from healthy heart donors (n = 9).", "output": {"entities": {"gene": [{"text": "CMP", "start": 157, "end": 160}], "disease": [{"text": "dilated cardiomyopathy", "start": 133, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of c8orf37 resulted in impaired visual behavior and BBS-related phenotypes, specifically, defects in the formation of Kupffer' s vesicle and delays in retrograde transport.", "output": {"entities": {"gene": [{"text": "c8orf37", "start": 13, "end": 20}], "disease": [{"text": "BBS", "start": 62, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "c8orf37", "start": 13, "end": 20}, "tail": {"text": "BBS", "start": 62, "end": 65}}]}}, "schema": []}
{"input": "Using a xenotransplantable, glioma cell line (U87), we observed that knocking down PTTG mRNA by RNA silencing inhibited serum-induced proliferation by approximately 50%.", "output": {"entities": {"gene": [{"text": "U87", "start": 46, "end": 49}], "disease": [{"text": "glioma", "start": 28, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The lethal-spotted mouse which has pigment abnormalities, but also colonic aganglionosis, carries a mutation in the gene coding for endothelin 3 (Edn3), the ligand for the receptor protein encoded by EDNRB.", "output": {"entities": {"gene": [{"text": "EDNRB", "start": 200, "end": 205}], "disease": [{"text": "abnormalities", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "To determine the adaptive changes in several molecules regulating muscle hypertrophy and atrophy after unloading, we examined whether unilateral lower limb suspension changes the mRNA and protein levels of SRF-linked (RhoA, RhoGDI, STARS and SRF), myostatin-linked (myostatin, Smad2, Smad3 and FLRG) and Foxo-linked (P-Akt, Foxo1, Foxo3a and Atrogin-1) mediators.", "output": {"entities": {"gene": [{"text": "Smad2", "start": 277, "end": 282}], "disease": [{"text": "muscle hypertrophy", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "At the functional level, rs1881457 increased IL13 mRNA levels, whereas anxiety and depression scores did not correlate with rs2349775-NXPH1.", "output": {"entities": {"gene": [{"text": "NXPH1", "start": 134, "end": 139}], "disease": [{"text": "anxiety", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "By means of fluorescence in situ hybridization (FISH), we attempted to detect and delineate deletions of 6q in leukemias and lymphomas.", "output": {"entities": {"gene": [{"text": "FISH", "start": 48, "end": 52}], "disease": [{"text": "leukemias", "start": 111, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "NO-ASA altered the spatial distribution of VGEF expression, with 16. 7% of the vehicle-treated xenografts displaying diminished VEGF in the inner region of the area between necrosis and the outer perimeter of the tumor, compared with those treated with m-(58. 3%) or p-NO-ASA (75%, P < 0. 01 for both versus control).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 128, "end": 132}], "disease": [{"text": "necrosis", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We also found no association between expression levels of TOP2A and pCR rate in either the anthracycline-containing or free arms of TRYPHAENA.", "output": {"entities": {"gene": [{"text": "TOP2A", "start": 58, "end": 63}], "disease": [{"text": "arms", "start": 124, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that impairment in p27 IRES-mediated translation due to decreased levels of DKC1 activity markedly increases spontaneous pituitary tumorigenesis in p27 heterozygous mice.", "output": {"entities": {"gene": [{"text": "p27", "start": 35, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 147, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The transcript levels of survivin, c-MYB, COX-2, iNOS, and Tcf-4 showed a statistically significant increase during neoplastic transformation of UC patient colonic mucosa, whereas hTERT and ILK were not elevated.", "output": {"entities": {"gene": [{"text": "MYB", "start": 37, "end": 40}], "disease": [{"text": "neoplastic transformation", "start": 116, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These observations provide evidence that IL-17RC protein isoforms are differentially expressed in prostatic cells and cancer tissues and may play a negative or positive role in the initiation and progression of prostate cancer.", "output": {"entities": {"gene": [{"text": "IL-17RC", "start": 41, "end": 48}], "disease": [{"text": "prostate cancer", "start": 211, "end": 226}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-17RC", "start": 41, "end": 48}, "tail": {"text": "prostate cancer", "start": 211, "end": 226}}]}}, "schema": []}
{"input": "HIF-1 alpha protein was expressed in microvessels bordering necrosis where it co-localized with VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 96, "end": 100}], "disease": [{"text": "necrosis", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The relevance of recurrent molecular abnormalities in cytogenetically normal (CN) acute myeloid leukemia (AML) was recently acknowledged by the inclusion of molecular markers such as NPM1, FLT3, and CEBPA as a complement to cytogenetic information within both the World Health Organization and the European Leukemia Net classifications.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 199, "end": 204}], "disease": [{"text": "abnormalities", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we show that the expression of pro-angiogenic genes (ADM, GDF15, HMOX1, SERPE1 and SERPB8) is dependent on KDMs under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "ADM", "start": 63, "end": 66}], "disease": [{"text": "hypoxic", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Primary cultures of endometrial stromal cells (ESCs) and epithelial cells (EECs) isolated from 24 patients with a normal uterine cavity were transfected with 2. 5 × 10 (8) (Group 1) and 1. 25 × 10 (8) (Group 2) plaque-forming units (PFU) of adenovirus encoding red fluorescent protein (Ad-RFP).", "output": {"entities": {"gene": [{"text": "RFP", "start": 289, "end": 292}], "disease": [{"text": "adenovirus", "start": 241, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Previous results from our laboratory indicated that IQGAP1 and RhoC are highly expressed in gastric cancer tissues and cells.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 63, "end": 67}], "disease": [{"text": "gastric cancer", "start": 92, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The expression of PDGF-A and PDGFR were reduced in R group during inflammatory responsive and granulation formation periods (14-28 days after radiation, the IA value of PDGF-A varied from 14. 0 +/-1. 2 to 20. 3 +/-1. 2 compared with that in T group in which the IA value of PDGF-A at the same period (3-9 days after injury) varied from 20. 0 +/-1. 6 to 28. 3 +/-1. 0, and reduced gradually during scar formation period (55 days after radiation).", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 18, "end": 24}], "disease": [{"text": "scar", "start": 397, "end": 401}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we for the first time investigated by immunohistochemistry and fluorescence in situ hybridization (FISH) the prevalence of cyclin D3 abnormalities in gastrointestinal stromal tumors (GISTs), comparing the results with traditional pathological characteristics, p27 immunoreactivity (IR), and Ki-67 labeling index (LI).", "output": {"entities": {"gene": [{"text": "FISH", "start": 121, "end": 125}], "disease": [{"text": "gastrointestinal stromal tumors", "start": 172, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Measurement of beta-oxidation enzymes showed long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency; determination of respiratory chain complex activities revealed complete absence of complex I, II, III and IV activities in skeletal muscle and reduced activities of complexes II and IV in cultured fibroblasts, with secondary dysregulation of ATP synthase.", "output": {"entities": {"gene": [{"text": "LCHAD", "start": 89, "end": 94}], "disease": [{"text": "secondary", "start": 323, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "KLICK syndrome: recognizable phenotype and hot-spot POMP mutation.", "output": {"entities": {"gene": [{"text": "POMP", "start": 52, "end": 56}], "disease": [{"text": "KLICK syndrome", "start": 0, "end": 14}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POMP", "start": 52, "end": 56}, "tail": {"text": "KLICK syndrome", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "The considered CMPs were CD45RO, CD26, CD36, glut-R, N-CAM, VCAM-1, ELAM-1, CD44 and CD58, representing lymphomonocyte, neuronal and adhesion molecules.", "output": {"entities": {"gene": [{"text": "CD26", "start": 33, "end": 37}], "disease": [{"text": "adhesion", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Here, we carry out an extensive genetic screen of primary tumors to evaluate the role of FBXW7 as a tumor suppressor in human tumorigenesis.", "output": {"entities": {"gene": [{"text": "FBXW7", "start": 89, "end": 94}], "disease": [{"text": "tumorigenesis", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "These cell lines, derived from LAM nodule or an angiomyolipoma, are usually characterized by a mutation of the TSC2 gene, expression of smooth muscle cell antigens such as a-smooth muscle actin (aSMA) or S6K1 and S6 protein hyperphosphorylation.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 174, "end": 193}], "disease": [{"text": "angiomyolipoma", "start": 48, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "These CYP21A2 genes were compared to those of 94 fully characterized patients with mild deficiency carrying p. Val282Leu in compound heterozygosity with a severe allele.", "output": {"entities": {"gene": [{"text": "CYP21A2", "start": 6, "end": 13}], "disease": [{"text": "mild", "start": 83, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Collectively, LMP1 induces AID up-regulation and genomic instability via Egr-1.", "output": {"entities": {"gene": [{"text": "AID", "start": 27, "end": 30}], "disease": [{"text": "genomic instability", "start": 49, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, knockdown of TFF3 reduced the VEGF protein secretion: as VEGF secretion was increased time dependent manner in response to the hypoxia induction in TFF3-WT cells; however, VEGF production was significantly decreased in TFF3-KD cells (621 ± 89 vs. 264 ± 73 at 6 h and 969 ± 97 vs. 508 ± 69 at 12 h, P < 0. 05).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 43, "end": 47}], "disease": [{"text": "hypoxia", "start": 140, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "To limit the risk of pathological angiogenesis, we developed a hypoxia-inducible VEGF gene therapy system using the erythropoietin (Epo) enhancer and water-soluble lipopolymer (WSLP).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 81, "end": 85}], "disease": [{"text": "hypoxia", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Deficiency in the DNA mismatch repair (MMR) system results in microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 39, "end": 42}], "disease": [{"text": "microsatellite instability", "start": 62, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these data confirmed that a mutation in MPZ can cause axonal neuropathy, in the absence of segmental demyelination, thus uncoupling the two pathological processes.", "output": {"entities": {"gene": [{"text": "MPZ", "start": 56, "end": 59}], "disease": [{"text": "segmental demyelination", "start": 107, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The vascular endothelial growth factor (VEGF) family and its receptors have multifunctional activities besides angiogenesis, and some of these molecules are induced by hypoxia/ischemia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 40, "end": 44}], "disease": [{"text": "hypoxia", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Hereditary hemorrhagic telangiectasia (HHT) is characterized by vascular malformations (VMs) and caused by mutations in TGFβ/BMP9 pathway genes, most commonly ENG or ACVRL1.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 120, "end": 124}], "disease": [{"text": "vascular malformations", "start": 64, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results demonstrate an unexpected role for ASC in Sonic hedgehog-driven medulloblastoma tumorigenesis, thus identifying ASC as a promising novel target for antitumor therapy.", "output": {"entities": {"gene": [{"text": "ASC", "start": 65, "end": 68}], "disease": [{"text": "medulloblastoma", "start": 94, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated the functional importance of NCC in this response by showing that tacrolimus did not affect blood pressure in NCC-knockout mice, whereas the hypertensive response to tacrolimus was exaggerated in mice overexpressing NCC.", "output": {"entities": {"gene": [{"text": "NCC", "start": 45, "end": 48}], "disease": [{"text": "blood pressure", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Genes involved in inflammation (ALCAM, CTSB, C1S, YKL-40, MIF, SAA2), extracellular matrix remodeling (MMP9, PALLD), angiogenesis (EGFL6, leptin) and oxidative stress (AKR1C3, UCHL1, HSPB7 and NQO1) were upregulated; whereas apoptosis, signal transcription (CITED 2 and NR3C1), cell control and cell cycle-related genes were downregulated.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 193, "end": 197}], "disease": [{"text": "inflammation", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "We report here that high-fat-diet-fed ABHD6-KO mice show modestly reduced food intake, decreased body weight gain and glycemia, improved glucose tolerance and insulin sensitivity, and enhanced locomotor activity.", "output": {"entities": {"gene": [{"text": "ABHD6", "start": 38, "end": 43}], "disease": [{"text": "insulin sensitivity", "start": 159, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "With as little as a 5 min duration of status epilepticus (SE), γ-H2AX increased in CA1, CA3, and entorhinal cortex to a greater extent than that observed after the clusters of individual seizures, with still greater increases after 120 min of SE.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 65, "end": 69}], "disease": [{"text": "seizures", "start": 187, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "In B-ALL KIBRA methylation was associated with ETV6/RUNX1 [t (12; 21) (p13; q22)] chromosomal translocation (p = 0. 0082) phenotype, suggesting that KIBRA may play an important role in t (12; 21) leukemogenesis.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 52, "end": 57}], "disease": [{"text": "chromosomal translocation", "start": 82, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "CPEB4 is necessary for cell survival and becomes nuclear in response to focal ischemia in vivo and when cultured neurons are deprived of oxygen and glucose.", "output": {"entities": {"gene": [{"text": "CPEB4", "start": 0, "end": 5}], "disease": [{"text": "ischemia", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The total of 1374 study subjects included 241 outpatients who participated in an H. pylori eradication program (HPE), 679 first-visit outpatients (FVO) at a regional cancer hospital, and 454 local residents who received a health checkup examination (HCE).", "output": {"entities": {"gene": [{"text": "HCE", "start": 250, "end": 253}], "disease": [{"text": "regional cancer", "start": 157, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Hemophilia A results from mutations in the gene coding for coagulation factor VIII.", "output": {"entities": {"gene": [{"text": "coagulation factor VIII", "start": 59, "end": 82}], "disease": [{"text": "Hemophilia A", "start": 0, "end": 12}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor VIII", "start": 59, "end": 82}, "tail": {"text": "Hemophilia A", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "We report here that the suppression of either ITGB4 or NTN4 in glioblastoma cell lines significantly enhances cellular senescence.", "output": {"entities": {"gene": [{"text": "NTN4", "start": 55, "end": 59}], "disease": [{"text": "glioblastoma", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Five of eight SEPN1-related myopathy patients had abnormalities on OGTT suggestive of insulin resistance.", "output": {"entities": {"gene": [{"text": "SEPN1", "start": 14, "end": 19}], "disease": [{"text": "abnormalities", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism.", "output": {"entities": {"gene": [{"text": "EGR2", "start": 78, "end": 82}], "disease": [{"text": "RTT", "start": 100, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGR2", "start": 78, "end": 82}, "tail": {"text": "RTT", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "Mice lacking the tumor necrosis factor-alpha receptor 2 (TNFR2) gene fed a high-fat diet gain less weight and display reduced leptin and insulin levels.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 57, "end": 62}], "disease": [{"text": "weight", "start": 99, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "HVEM-241GA and-14AG gene polymorphisms were associated with obesity, diastolic pressure, several inflammatory parameters (C-reactive protein and interleukin 18 (IL-18)), and circulating LIGHT concentrations.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 161, "end": 166}], "disease": [{"text": "diastolic pressure", "start": 69, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The reported regression of mucosa-associated lymphoid tissue (MALT) type gastric low-grade B-cell lymphoma following treatment for Helicobacter pylori (H. pylori) infection has not yet been comprehensively analyzed, especially in relation to the recently identified c-IAP2-MALT1/MLT gene alteration resulting from the t (11; 18) (q21; q21) chromosomal translocation found in MALT lymphoma.", "output": {"entities": {"gene": [{"text": "MLT", "start": 279, "end": 282}], "disease": [{"text": "chromosomal translocation", "start": 340, "end": 365}]}, "relations": {}}, "schema": []}
{"input": "Moreover, fluorescence in situ hybridization performed on paraffin-embedded tissue sections demonstrated an immunoglobulin heavy chain (IGH)/BCL2 translocation signal in both follicular and diffuse components, but an IGH/c-MYC translocation signal in only the diffuse component.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 141, "end": 145}], "disease": [{"text": "translocation", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "CNP1 is locally expressed in the myelin sheath but CNP2 is additionally expressed at low levels outside the nervous system.", "output": {"entities": {"gene": [{"text": "CNP1", "start": 0, "end": 4}], "disease": [{"text": "nervous system", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We found that Notch pathway components, including Jag1-2 ligands, Hes1-Hey1 targets and the intracellular domain of Notch1, were increased in hypoxia, as well as the phosphorylation levels of Erk1-2 and Akt.", "output": {"entities": {"gene": [{"text": "Hey1", "start": 71, "end": 75}], "disease": [{"text": "hypoxia", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "He had a normal karyotype by G-banded chromosome analysis, and a deletion of the ETV6 (alias TEL) gene was determined by fluorescence in situ hybridization analysis using DNA probes specific for t (12; 21), which leads to ETV6/RUNX1 (alias TEL/AML1) gene fusion, but no translocation was found between the two genes.", "output": {"entities": {"gene": [{"text": "AML1", "start": 244, "end": 248}], "disease": [{"text": "translocation", "start": 270, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, two sporadic cases of hypercalciuric hypocalcemia were due to de novo gain-of-function mutations of the CaR gene.", "output": {"entities": {"gene": [{"text": "CaR", "start": 119, "end": 122}], "disease": [{"text": "hypercalciuric hypocalcemia", "start": 37, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CaR", "start": 119, "end": 122}, "tail": {"text": "hypercalciuric hypocalcemia", "start": 37, "end": 64}}]}}, "schema": []}
{"input": "Twenty-five SNPs were used for statistical analysis, where we found strong associations for one SNP in PPP2R4 with the lung clearance index (P ≤ 0. 01), the specific effective airway resistance (P ≤ 0. 005) and the forced expiratory volume in 1 s (P ≤ 0. 005).", "output": {"entities": {"gene": [{"text": "PPP2R4", "start": 103, "end": 109}], "disease": [{"text": "forced expiratory volume", "start": 215, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Through FISH and whole transcriptome sequencing analysis we found a novel fusion between the IRF2BP2 gene and the transcription factor CDX1 gene arising from the translocation.", "output": {"entities": {"gene": [{"text": "IRF2BP2 gene", "start": 93, "end": 105}], "disease": [{"text": "translocation", "start": 162, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "E2 reduced hypoxia-induced binding of HIF-1 to the VEGF promoter site and reduced the HIF-1alpha mRNA level.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 51, "end": 55}], "disease": [{"text": "hypoxia", "start": 11, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0. 05.", "output": {"entities": {"gene": [{"text": "GSTM3", "start": 185, "end": 190}], "disease": [{"text": "smoking", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Thus, cancers of many histologies exhibit activated HSF1 and increased HSP levels that may help to deter tumor suppression and evade therapy in the clinic.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 52, "end": 56}], "disease": [{"text": "tumor", "start": 105, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSF1", "start": 52, "end": 56}, "tail": {"text": "tumor", "start": 105, "end": 110}}]}}, "schema": []}
{"input": "Serum chemerin significantly and positively correlated with triglycerides (TG) and homeostasis model assessment of insulin resistance (HOMA-IR) assessed both by uni-and multivariate.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 6, "end": 14}], "disease": [{"text": "insulin resistance", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Around 15% of colorectal cancers (CRCs) show microsatellite instability (MSI) due to dysfunction of the mismatch repair system (MMR).", "output": {"entities": {"gene": [{"text": "MMR", "start": 128, "end": 131}], "disease": [{"text": "microsatellite instability", "start": 45, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "All the experiments are consistent with the contention that the G985 mutation, resulting in a lysine to glutamate shift at position 329 in the MCAD polypeptide chain, is the genetic cause of MCAD deficiency in this family.", "output": {"entities": {"gene": [{"text": "MCAD", "start": 143, "end": 147}], "disease": [{"text": "MCAD deficiency", "start": 191, "end": 206}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCAD", "start": 143, "end": 147}, "tail": {"text": "MCAD deficiency", "start": 191, "end": 206}}]}}, "schema": []}
{"input": "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.", "output": {"entities": {"gene": [{"text": "IFT140", "start": 51, "end": 57}], "disease": [{"text": "Mainzer-Saldino syndrome", "start": 0, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT140", "start": 51, "end": 57}, "tail": {"text": "Mainzer-Saldino syndrome", "start": 0, "end": 24}}]}}, "schema": []}
{"input": "The effect of GSTM1 and GSTT1 deletion on survival was analyzed with the logrank test and with Cox regression.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 24, "end": 29}], "disease": [{"text": "regression", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that the ability of Ang IV to inhibit pilocarpine-induced convulsions is dependent on somatostatin receptor-2 activation, and is possibly mediated via the inhibition of IRAP resulting in an elevated concentration of somatostatin-14 in the brain.", "output": {"entities": {"gene": [{"text": "somatostatin receptor-2", "start": 105, "end": 128}], "disease": [{"text": "convulsions", "start": 77, "end": 88}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "somatostatin receptor-2", "start": 105, "end": 128}, "tail": {"text": "convulsions", "start": 77, "end": 88}}]}}, "schema": []}
{"input": "The t (15; 21) translocation also dissociates the P1 promoter of RUNX1 from its open reading frame, reducing RUNX1 expression levels in the patient' s leukemic cells.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 65, "end": 70}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "We describe PAP, failure to thrive, and increased GM-CSF levels in two sisters aged 6 and 8 yr with abnormalities of both GM-CSF-Ralpha-encoding alleles (CSF2RA).", "output": {"entities": {"gene": [{"text": "PAP", "start": 12, "end": 15}], "disease": [{"text": "failure to thrive", "start": 17, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We classified 175 patients with clinically diagnosed AD and type 2 DM into 4 subgroups on the basis of the presence or absence of cerebrovascular disease (CVD) on MRI (CVD or no CVD) and posterior cerebral hypoperfusion on SPECT (AD pattern or no AD pattern).", "output": {"entities": {"gene": [{"text": "MRI", "start": 163, "end": 166}], "disease": [{"text": "cerebrovascular disease", "start": 130, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We investigated five cases of cardiac myxoma and one case of cardiac undifferentiated sarcoma by light and electron microscopy, in situ hybridization, immunohistochemical staining, and reverse transcriptase-polymerase chain reaction for cardiomyocyte-specific transcription factors, Nkx2. 5/Csx, GATA-4, MEF2, and eHAND.", "output": {"entities": {"gene": [{"text": "Nkx2. 5", "start": 283, "end": 290}], "disease": [{"text": "cardiac myxoma", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "All of his three children had Blau syndrome and had inherited the NOD2 mutation.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 66, "end": 70}], "disease": [{"text": "Blau syndrome", "start": 30, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOD2", "start": 66, "end": 70}, "tail": {"text": "Blau syndrome", "start": 30, "end": 43}}]}}, "schema": []}
{"input": "These findings indicate that MALT1 translocations are not restricted to indolent-appearing lymphomas, provide further evidence that API2-MALT1 and IGH-MALT1 translocations exhibit biologic differences, have implications regarding the pathogenesis of some extranodal DLBCL, and emphasize that a t (14; 18) (q32; q21) cannot be assumed to reflect a BCL2 translocation.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 29, "end": 34}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "To investigate further the mechanisms of VEGF regulation, we examined VEGF expression by mRNA and protein analysis in four human bladder cancer cell lines, showing a progression from well to poorly differentiated phenotypes under varying conditions of confluence and hypoxia (0. 1% O (2)) and with chemical mimics of hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 41, "end": 45}], "disease": [{"text": "hypoxia", "start": 267, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that crosstalk between ROR1-HER3 and the Hippo-YAP pathway promotes breast cancer bone metastasis in a long noncoding RNA-dependent fashion.", "output": {"entities": {"gene": [{"text": "ROR1", "start": 39, "end": 43}], "disease": [{"text": "breast cancer", "start": 84, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ROR1", "start": 39, "end": 43}, "tail": {"text": "breast cancer", "start": 84, "end": 97}}]}}, "schema": []}
{"input": "In five out of five examined ductal in situ breast cancers of comedo type, PGRMC1 was expressed in glucose transporter 1 negative or positive poorly oxygenated cells surrounding the necrotic core, surrounded by a more distal halo of ER-positive cells.", "output": {"entities": {"gene": [{"text": "PGRMC1", "start": 75, "end": 81}], "disease": [{"text": "comedo", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Changed expression of brain CMKLR1 is suggested to be involved in the mechanism of depression.", "output": {"entities": {"gene": [{"text": "CMKLR1", "start": 28, "end": 34}], "disease": [{"text": "depression", "start": 83, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CMKLR1", "start": 28, "end": 34}, "tail": {"text": "depression", "start": 83, "end": 93}}]}}, "schema": []}
{"input": "Results showed that sevoflurane attenuated the hypoxia-induced VEGF level without altering the HIF-1α after exposure for 24 and 72 h. Sevoflurane increased the DNA methylation of the VEGF promoter region.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 63, "end": 67}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Unlike the results for schizophrenia and bipolar disorder, the increase in TDO2 protein in the major depression group was not associated with an increase in kynurenine concentration.", "output": {"entities": {"gene": [{"text": "TDO2", "start": 75, "end": 79}], "disease": [{"text": "schizophrenia", "start": 23, "end": 36}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TDO2", "start": 75, "end": 79}, "tail": {"text": "schizophrenia", "start": 23, "end": 36}}]}}, "schema": []}
{"input": "We investigated the change of insulin resistance and inflammation in eWAT in P-selectin glycoprotein ligand-1 (PSGL-1) homozygous knockout (PSGL-1 ⁻ (/) ⁻) mice compared with wild-type (WT) mice fed HFD.", "output": {"entities": {"gene": [{"text": "PSGL-1", "start": 111, "end": 117}], "disease": [{"text": "insulin resistance", "start": 30, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "To knock down hepatic GnT-V expression, adenovirus that expressed the GnT-V siRNA was injected via the tail vein.", "output": {"entities": {"gene": [{"text": "GnT-V", "start": 22, "end": 27}], "disease": [{"text": "adenovirus", "start": 40, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes.", "output": {"entities": {"gene": [{"text": "RIT1", "start": 61, "end": 65}], "disease": [{"text": "Noonan syndrome", "start": 72, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RIT1", "start": 61, "end": 65}, "tail": {"text": "Noonan syndrome", "start": 72, "end": 87}}]}}, "schema": []}
{"input": "Transgenic mice overexpressing reticulon 3 develop neuritic abnormalities.", "output": {"entities": {"gene": [{"text": "reticulon 3", "start": 31, "end": 42}], "disease": [{"text": "abnormalities", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.", "output": {"entities": {"gene": [{"text": "NR3C1", "start": 44, "end": 49}], "disease": [{"text": "Glucocorticoid Resistance", "start": 58, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NR3C1", "start": 44, "end": 49}, "tail": {"text": "Glucocorticoid Resistance", "start": 58, "end": 83}}]}}, "schema": []}
{"input": "Overexpression of wild-type SIRT6 but not its catalytically inactive mutant, attenuated AngII-induced cardiomyocyte hypertrophy.", "output": {"entities": {"gene": [{"text": "SIRT6", "start": 28, "end": 33}], "disease": [{"text": "cardiomyocyte hypertrophy", "start": 102, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In contrast, p38 pathway inhibitor SB203580 obviously promoted the dissociation of Nrf2 from Keap1 to promote antioxidant gene transcription.", "output": {"entities": {"gene": [{"text": "Keap1", "start": 93, "end": 98}], "disease": [{"text": "dissociation", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Annual incidence of major bleeding in antithrombin-, protein C-, or protein S-deficient relatives on anticoagulants was 0. 29% (95% CI, 0. 03-1. 04).", "output": {"entities": {"gene": [{"text": "protein C", "start": 53, "end": 62}], "disease": [{"text": "bleeding", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study is to test the hypothesis that genetic variants of LPL and serum lipid levels are associated with the risk of childhood obesity.", "output": {"entities": {"gene": [{"text": "LPL", "start": 73, "end": 76}], "disease": [{"text": "childhood obesity", "start": 132, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.", "output": {"entities": {"gene": [{"text": "eIF2B", "start": 72, "end": 77}], "disease": [{"text": "leukoencephalopathy with vanishing white matter", "start": 88, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "eIF2B", "start": 72, "end": 77}, "tail": {"text": "leukoencephalopathy with vanishing white matter", "start": 88, "end": 135}}]}}, "schema": []}
{"input": "Taken together, these results suggest that cigarette smoke exposure impairs angiogenesis by inhibiting VEGF through decreased expression of HIF-1alpha in hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 103, "end": 107}], "disease": [{"text": "hypoxic", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We further investigated effects of repeated intrathecal administration with Adenoviruses expressing CRTC1-small interfering RNA (siRNA) on nociceptive behaviors and on the upregulation of CREB/CRTC1-target genes associated with bone cancer pain.", "output": {"entities": {"gene": [{"text": "CRTC1", "start": 100, "end": 105}], "disease": [{"text": "cancer pain", "start": 233, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Thus, aberrant expression of LBX1 may lead to the activation of a developmentally regulated EMT pathway in human breast cancer.", "output": {"entities": {"gene": [{"text": "LBX1", "start": 29, "end": 33}], "disease": [{"text": "breast cancer", "start": 113, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LBX1", "start": 29, "end": 33}, "tail": {"text": "breast cancer", "start": 113, "end": 126}}]}}, "schema": []}
{"input": "Here, we studied a rat model of mild-to-moderate SAH intended to minimize ischemia/hypoxia to examine the role of sulfonylurea receptor 1 (SUR1) in the inflammatory response induced by SAH.", "output": {"entities": {"gene": [{"text": "SAH", "start": 49, "end": 52}], "disease": [{"text": "hypoxia", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "In cultured tumor lines, co-infection with both Ad Flk1-Fc and dl922/947 allowed replication and repackaging of the replication-deficient Ad Flk1-Fc and enhanced soluble VEGF receptor expression.", "output": {"entities": {"gene": [{"text": "Flk1", "start": 51, "end": 55}], "disease": [{"text": "co-infection", "start": 25, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Here, we highlight how recent studies analyzing function and expression of these channels in the kidney improve our mechanistic understanding of TRP channel function in general and pave the way to new, promising therapeutic strategies to target kidney diseases such as FSGS and hypomagnesemia with secondary hypocalcemia.", "output": {"entities": {"gene": [{"text": "TRP", "start": 145, "end": 148}], "disease": [{"text": "hypomagnesemia with secondary hypocalcemia", "start": 278, "end": 320}]}, "relations": {}}, "schema": []}
{"input": "Both vascular endothelial growth factor a (VEGFa) and matrix metalloproteinases 2 (MMP2) are essential for cancer neovascularization and cancer invasion in that they promote endothelial mitogenesis and permeability, and promote extracellular matrix degradation, respectively.", "output": {"entities": {"gene": [{"text": "MMP2", "start": 83, "end": 87}], "disease": [{"text": "neovascularization", "start": 114, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Effects of G250 promoter controlled conditionally replicative adenovirus expressing Ki67-siRNA on renal cancer cell.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 84, "end": 88}], "disease": [{"text": "adenovirus", "start": 62, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In a 12-O-tetradecanoylphobol 13-acetate (TPA)-induced mouse model, mice ears treated with Tat-BLVRA protein showed decreased ear thickness and weight, as well as inhibited MAPKs activation and cytokine expression.", "output": {"entities": {"gene": [{"text": "BLVRA", "start": 95, "end": 100}], "disease": [{"text": "weight", "start": 144, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In addition, hypoxia-driven VEGF expression in NSCLC cells was SP-1-dependent, with hypoxia increasing SP-1 activity and binding to the VEGF promoter.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 28, "end": 32}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "In contrast, neither the t (11; 18) (q21; q21) translocation nor other MALT1 gene translocations could be demonstrated.", "output": {"entities": {"gene": [{"text": "MALT1 gene", "start": 71, "end": 81}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the EYA4 methylation status and found EYA4 promoter methylation in CRC cell lines (100%), CRC tissues (93. 5%) and advanced adenoma tissues (50. 7%), compared with normal mucosa (32. 6%).", "output": {"entities": {"gene": [{"text": "EYA4", "start": 16, "end": 20}], "disease": [{"text": "adenoma", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The data obtained in the present study suggest that, through the inhibition of the p53-MDM2 interaction, adenovirus delivery of RPL23 can inhibit the proliferation of gastric cancer cells harboring wt p53 in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "RPL23", "start": 128, "end": 133}], "disease": [{"text": "gastric cancer", "start": 167, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Variants predicted to affect transcription factor binding, splicing, and DNA methylation in WNT3A, PCSK5, TCF4, MKKS, GLI2, HOXD12, and BMP4 were associated with anorectal atresia based on a nominal P value < 0. 05.", "output": {"entities": {"gene": [{"text": "HOXD12", "start": 124, "end": 130}], "disease": [{"text": "atresia", "start": 172, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Histidine-rich glycoprotein (HRG) is a 75-kDa heparin-binding plasma protein implicated in the regulation of tumor growth and vascularization.", "output": {"entities": {"gene": [{"text": "HRG", "start": 29, "end": 32}], "disease": [{"text": "vascularization", "start": 126, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Confirming the oncogenic effects of the fusion protein, subcutaneous implantation of NUP160-SLC43A3-expressing fibroblasts induced tumors resembling human angiosarcoma.", "output": {"entities": {"gene": [{"text": "NUP160", "start": 85, "end": 91}], "disease": [{"text": "tumors", "start": 131, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that XPD may play an important role in cell apoptosis of hepatoma by inducing an over-expression of p53, but suppressing expressions of c-myc and cdk2.", "output": {"entities": {"gene": [{"text": "cdk2", "start": 167, "end": 171}], "disease": [{"text": "hepatoma", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Several of the families, in which no mutations are found, also do not show linkage with the MLC1 locus, which suggests a second gene involved in MLC.", "output": {"entities": {"gene": [{"text": "MLC1", "start": 92, "end": 96}], "disease": [{"text": "MLC", "start": 92, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLC1", "start": 92, "end": 96}, "tail": {"text": "MLC", "start": 92, "end": 95}}]}}, "schema": []}
{"input": "Deletions of the long arm of chromosome 18 (18q21) (q32; q13. 1) activate the BCL-2 oncogene, while the translocation t (14; 19) (q32; q13. 1) activates the BCL-3 oncogene.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 78, "end": 83}], "disease": [{"text": "translocation", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The CXC chemokines, IP-10/CXCL10 and IL-8/CXCL8, play a role in obstructive lung disease by attracting Th1/Tc1 lymphocytes and neutrophils, respectively.", "output": {"entities": {"gene": [{"text": "CXCL8", "start": 42, "end": 47}], "disease": [{"text": "obstructive lung disease", "start": 64, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The aim of our study was to investigate whether gene transfer of alpha-melanocyte-stimulating hormone (alpha-MSH), a potent anti-inflammatory peptide, could prevent fulminant hepatic failure in mice.", "output": {"entities": {"gene": [{"text": "alpha-melanocyte-stimulating hormone", "start": 65, "end": 101}], "disease": [{"text": "fulminant hepatic failure", "start": 165, "end": 190}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "alpha-melanocyte-stimulating hormone", "start": 65, "end": 101}, "tail": {"text": "fulminant hepatic failure", "start": 165, "end": 190}}]}}, "schema": []}
{"input": "The expressions of three previously reported gene fusion transcripts, including HMGA2/LPP, HMGA2/RDC1 and HMGA2/NFIB, were analyzed in 102 tumors from patients with lipomas.", "output": {"entities": {"gene": [{"text": "RDC1", "start": 97, "end": 101}], "disease": [{"text": "lipomas", "start": 165, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Phosphorylation of Oct4 by Akt resulted in dissociation of Oct4 from the AKT1 promoter, which activated AKT1 transcription and promoted cell survival.", "output": {"entities": {"gene": [{"text": "Oct4", "start": 19, "end": 23}], "disease": [{"text": "dissociation", "start": 43, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Ten Aza-dC and/or TSA up-regulated genes (CPEB1, CD9, GJA1, BCL7c, GADD45G, AKAP12, TFPI2, CCNA1, SPARC, and BNIP3) were selected for methylation analysis in six MM cell lines, 24 samples from patients with monoclonal gammopathy of undetermined significance (MGUS), and 111 samples from patients with MM.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 98, "end": 103}], "disease": [{"text": "monoclonal gammopathy of undetermined significance", "start": 207, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "Associations between oxaliplatin-induced peripheral neuropathy and polymorphisms of the ERCC1 and GSTP1 genes.", "output": {"entities": {"gene": [{"text": "ERCC1", "start": 88, "end": 93}], "disease": [{"text": "peripheral neuropathy", "start": 41, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERCC1", "start": 88, "end": 93}, "tail": {"text": "peripheral neuropathy", "start": 41, "end": 62}}]}}, "schema": []}
{"input": "Both the precise role of MYH9 in the cochlea and the mechanism by which the R705H mutation leads to the DFNA17 phenotype (progressive hearing impairment and cochleosaccular degeneration) remain to be elucidated.", "output": {"entities": {"gene": [{"text": "MYH9", "start": 25, "end": 29}], "disease": [{"text": "DFNA17", "start": 104, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH9", "start": 25, "end": 29}, "tail": {"text": "DFNA17", "start": 104, "end": 110}}]}}, "schema": []}
{"input": "Orexigenic actions mediated by neuropeptide-Y (NPY) promote body weight regulation.", "output": {"entities": {"gene": [{"text": "NPY", "start": 47, "end": 50}], "disease": [{"text": "body weight", "start": 60, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In seven families with one or more members affected by apparent mineralocorticoid excess, this disorder is shown to be the result of a deficiency in 11 beta HSD2.", "output": {"entities": {"gene": [{"text": "11 beta HSD2", "start": 149, "end": 161}], "disease": [{"text": "apparent mineralocorticoid excess", "start": 55, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "11 beta HSD2", "start": 149, "end": 161}, "tail": {"text": "apparent mineralocorticoid excess", "start": 55, "end": 88}}]}}, "schema": []}
{"input": "Our observations suggest that inactivation of the E-cadherin gene occurs only in a subset of diffuse-type gastric cancers, as the majority of cases did not contain genetic alterations or identifiable protein abnormalities.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 50, "end": 60}], "disease": [{"text": "abnormalities", "start": 208, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "We have therefore re-investigated the original Guttmacher syndrome family, and have found that affected individuals are heterozygous for a novel missense mutation in the HOXA13 homeobox (c. 1112A & gt; T; homeodomain residue Q50L), which arose on an allele already carrying a novel 2-bp deletion (-78-79delGC) in the gene' s highly conserved promoter region.", "output": {"entities": {"gene": [{"text": "HOXA13", "start": 170, "end": 176}], "disease": [{"text": "Guttmacher syndrome", "start": 47, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXA13", "start": 170, "end": 176}, "tail": {"text": "Guttmacher syndrome", "start": 47, "end": 66}}]}}, "schema": []}
{"input": "We have hypothesized that the human TREK-1 channel is involved in myometrial relaxation during pregnancy and that splice variants of the TREK-1 channel expressed in preterm myometrium are associated with preterm delivery by interaction with full-length TREK-1.", "output": {"entities": {"gene": [{"text": "TREK-1", "start": 36, "end": 42}], "disease": [{"text": "preterm delivery", "start": 204, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann' s corneal dystrophy.", "output": {"entities": {"gene": [{"text": "keratin 12", "start": 35, "end": 45}], "disease": [{"text": "Meesmann' s corneal dystrophy", "start": 74, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 12", "start": 35, "end": 45}, "tail": {"text": "Meesmann' s corneal dystrophy", "start": 74, "end": 103}}]}}, "schema": []}
{"input": "Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5.", "output": {"entities": {"gene": [{"text": "PRDM5", "start": 141, "end": 146}], "disease": [{"text": "connective tissue disorder", "start": 80, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRDM5", "start": 141, "end": 146}, "tail": {"text": "connective tissue disorder", "start": 80, "end": 106}}]}}, "schema": []}
{"input": "These results indicate that the LAD1v syndrome is caused by truncating mutations in FERMT3.", "output": {"entities": {"gene": [{"text": "FERMT3", "start": 84, "end": 90}], "disease": [{"text": "LAD1v", "start": 32, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FERMT3", "start": 84, "end": 90}, "tail": {"text": "LAD1v", "start": 32, "end": 37}}]}}, "schema": []}
{"input": "While PKCepsilon activation can induce acute hyperalgesia in the IB4 (+) population, it fails to induce priming.", "output": {"entities": {"gene": [{"text": "PKCepsilon", "start": 6, "end": 16}], "disease": [{"text": "hyperalgesia", "start": 45, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PKCepsilon", "start": 6, "end": 16}, "tail": {"text": "hyperalgesia", "start": 45, "end": 57}}]}}, "schema": []}
{"input": "The present study investigated for the first time by dual-colour fluorescence in situ hybridization (FISH) on interphase nuclei and immunohistochemistry the prevalence of the t (6; 14) translocation and cyclin D3 immunoreactivity (IR) in a series of 29 stage I-IIE primary gastric NHLs (PGLs).", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 203, "end": 212}], "disease": [{"text": "translocation", "start": 185, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS).", "output": {"entities": {"gene": [{"text": "TNS2", "start": 54, "end": 58}], "disease": [{"text": "NS", "start": 55, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNS2", "start": 54, "end": 58}, "tail": {"text": "NS", "start": 55, "end": 57}}]}}, "schema": []}
{"input": "Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.", "output": {"entities": {"gene": [{"text": "SGLT1", "start": 22, "end": 27}], "disease": [{"text": "glucose-galactose malabsorption", "start": 34, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGLT1", "start": 22, "end": 27}, "tail": {"text": "glucose-galactose malabsorption", "start": 34, "end": 65}}]}}, "schema": []}
{"input": "To address this issue, we PCR-amplified BCL2-IgH from fluorescence-activated cell sorting (FACS)-purified BM CD34 + and CD34-fractions in seven FL patients showing a PCR-detectable translocation in the major breakpoint region of BCL2, five of which showed morphological BM involvement.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 40, "end": 44}], "disease": [{"text": "translocation", "start": 181, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Data show that Rai1-transgenic mice have growth retardation, increased locomotor activity, and abnormal anxiety-related behavior compared to wild-type littermates.", "output": {"entities": {"gene": [{"text": "Rai1", "start": 15, "end": 19}], "disease": [{"text": "anxiety", "start": 104, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rai1", "start": 15, "end": 19}, "tail": {"text": "anxiety", "start": 104, "end": 111}}]}}, "schema": []}
{"input": "The LDL-C GRS, but not HDL-C or TG GRS, was significantly associated with presence of aortic valve calcium in CHARGE (odds ratio [OR] per GRS increment, 1. 38; 95% CI, 1. 09-1. 74; P =. 007) and with incident aortic stenosis in MDCS (HR per GRS increment, 2. 78; 95% CI, 1. 22-6. 37; P =. 02; aortic stenosis incidence: 1. 9% and 2. 6% in lowest and highest GRS quartiles, respectively).", "output": {"entities": {"gene": [{"text": "GRS", "start": 10, "end": 13}], "disease": [{"text": "aortic stenosis", "start": 209, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Cannabinoids suppress the maintenance of vincristine-induced mechanical allodynia through activation of CB1 and CB2 receptors.", "output": {"entities": {"gene": [{"text": "CB2", "start": 112, "end": 115}], "disease": [{"text": "mechanical allodynia", "start": 61, "end": 81}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CB2", "start": 112, "end": 115}, "tail": {"text": "mechanical allodynia", "start": 61, "end": 81}}]}}, "schema": []}
{"input": "The t (12; 21) translocation leads to the expression of a novel fusion gene, TEL-AML1 (ETV6-RUNX1), and HeH often involves tri-and tetrasomy for chromosome 21.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 92, "end": 97}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The highest expression of CCR2 mRNA was showing at 24 h after HIBD, of which the level was significantly higher in hypoxic-ischemic (HI) cerebral hemisphere than in control (P < 0. 05).", "output": {"entities": {"gene": [{"text": "CCR2", "start": 26, "end": 30}], "disease": [{"text": "hypoxic", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Common genetic variation in IGF1, IGFBP-1, and IGFBP-3 in relation to mammographic density: a cross-sectional study.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 28, "end": 32}], "disease": [{"text": "mammographic density", "start": 70, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Total TF and PAR-2 expression were significantly higher in ectopic and eutopic endometrium of women with endometriosis when compared with controls.", "output": {"entities": {"gene": [{"text": "PAR", "start": 13, "end": 16}], "disease": [{"text": "endometriosis", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR-125b-2, let-7c and miR-99a.", "output": {"entities": {"gene": [{"text": "miR-99a", "start": 106, "end": 113}], "disease": [{"text": "down syndrome", "start": 40, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-99a", "start": 106, "end": 113}, "tail": {"text": "down syndrome", "start": 40, "end": 53}}]}}, "schema": []}
{"input": "The secreted wild-type VEGF facilitated the growth of endothelial cells more efficiently under hypoxic conditions than normoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 23, "end": 27}], "disease": [{"text": "hypoxic", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Moreover, Notch1 expression in sporadic Alzheimer disease hippocampus is elevated more than 2-fold in comparison to that in control human hippocampus by both immunohistochemistry and Western blot analysis (p < 0. 007).", "output": {"entities": {"gene": [{"text": "Notch1", "start": 10, "end": 16}], "disease": [{"text": "sporadic", "start": 31, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "ARFGEF2 encodes the large (> 200 kDa) brefeldin A (BFA)-inhibited GEF2 protein (BIG2), which is required for vesicle and membrane trafficking from the trans-Golgi network (TGN).", "output": {"entities": {"gene": [{"text": "GEF2", "start": 3, "end": 7}], "disease": [{"text": "vesicle", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Associations between survival among 61 glioblastoma multiforme patients and expression of E2F1 and hTERT mRNA and protein were examined with Kaplan-Meier analysis, the log-rank test, and Cox proportional hazards regression models.", "output": {"entities": {"gene": [{"text": "E2F1", "start": 90, "end": 94}], "disease": [{"text": "regression", "start": 212, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "In chronic lymphocytic leukaemia (CLL) expression of bcl-2 protein is increased but rearrangement of the gene can be found only in a minority of cases: commonly a variant translocation with a breakpoint region located 5' of the bcl-2 gene (vcr) with preferential rearrangement to immunoglobulin light chain genes.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 228, "end": 238}], "disease": [{"text": "translocation", "start": 171, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "When PBSC were obtained from patients with seminoma and lung cancer, treated with the CD4 (-)-LAK for 12 h and the CD34 + cells were isolated, colony formation (CFU-GM) by these cells was preserved.", "output": {"entities": {"gene": [{"text": "CD4", "start": 86, "end": 89}], "disease": [{"text": "seminoma", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that TGF-β1-dependent IGF-IEc expression and MGF production in patients with fibrostenotic Crohn' s disease regulates smooth muscle cell hypertrophy a critical factor that contributes to intestinal stricture formation.", "output": {"entities": {"gene": [{"text": "MGF", "start": 66, "end": 69}], "disease": [{"text": "intestinal stricture", "start": 208, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "We did not confirm the association of early overgrowth with involvement of YWHAE and CRK, or growth failure with duplications of LIS1.", "output": {"entities": {"gene": [{"text": "YWHAE", "start": 75, "end": 80}], "disease": [{"text": "overgrowth", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Their preferential emergence over virus-infected normal B cells may be coupled to the high expression of the bcl-2 gene due to the translocation.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 109, "end": 119}], "disease": [{"text": "translocation", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "We identified significant aggregate-level associations between cognitive decline and the gene regions BIN1, CD33, CELF1, CR1, HLA cluster, and MEF2C in the all-female cohort and significant associations with ABCA7, HLA cluster, MS4A6E, PICALM, PTK2B, SLC24A4, and SORL1 in the all-male cohort.", "output": {"entities": {"gene": [{"text": "SLC24A4", "start": 251, "end": 258}], "disease": [{"text": "cognitive decline", "start": 63, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We therefore analyzed several candidate genes of MODY, and identified a novel mutation of a 39-base heterozygous deletion in exon 3 (c. 374-412 del39) of PAX4 in the proband and his father.", "output": {"entities": {"gene": [{"text": "PAX4", "start": 154, "end": 158}], "disease": [{"text": "MODY", "start": 49, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX4", "start": 154, "end": 158}, "tail": {"text": "MODY", "start": 49, "end": 53}}]}}, "schema": []}
{"input": "CRF-R1 activation inhibits cell growth and proliferation of a tumor cell line derived from the human endometrium, and the UCN signaling pathway has been implicated in tumorigenesis of several tissues.", "output": {"entities": {"gene": [{"text": "UCN", "start": 122, "end": 125}], "disease": [{"text": "tumorigenesis", "start": 167, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Double immunohistochemical staining with TSLP and DC-LAMP or tryptase showed the existence of activated dendritic cells and mast cells near TSLP-positive cells in the giant papillae.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 41, "end": 45}], "disease": [{"text": "giant", "start": 167, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In cell culture, with the Tet-Off-regulated ERbeta-expressing cells, expression of ERbeta decreased expression of VEGF and PDGFbeta mRNA under normoxic as well as hypoxic conditions and reduced secreted VEGF and PDGFbeta proteins in cell culture medium.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 114, "end": 118}], "disease": [{"text": "hypoxic", "start": 163, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The activity of tartrate-resistant acid phosphatase, a marker of bone resorption, was significantly lower in the beclomethasone group than in both the asthma control and the normal control groups, but urine calcium excretion did not differ.", "output": {"entities": {"gene": [{"text": "tartrate-resistant acid phosphatase", "start": 16, "end": 51}], "disease": [{"text": "asthma", "start": 151, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Enalapril overdose and the corrective effect of intravenous angiotensin II.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 60, "end": 74}], "disease": [{"text": "overdose", "start": 10, "end": 18}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 60, "end": 74}, "tail": {"text": "overdose", "start": 10, "end": 18}}]}}, "schema": []}
{"input": "The differential expression of MORC4 identifies this molecule as a potential lymphoma biomarker, whose overexpression may contribute to the immunological recognition of MORC4 by a subgroup of DLBCL patients.", "output": {"entities": {"gene": [{"text": "MORC4", "start": 31, "end": 36}], "disease": [{"text": "lymphoma", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes.", "output": {"entities": {"gene": [{"text": "ASXL1", "start": 139, "end": 144}], "disease": [{"text": "Bohring-Opitz syndrome", "start": 50, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASXL1", "start": 139, "end": 144}, "tail": {"text": "Bohring-Opitz syndrome", "start": 50, "end": 72}}]}}, "schema": []}
{"input": "To study the regulation of S100A4 by NFAT5 in a more readily inducible model, colon cancer cells were subjected to hyperosmotic stress.", "output": {"entities": {"gene": [{"text": "NFAT5", "start": 37, "end": 42}], "disease": [{"text": "colon cancer", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "ADAM12 belongs to the group of A Disintegrin And Metalloproteases (ADAMs), which are typically membrane-associated proteins involved in ectodomain shedding, cell-adhesion, and signaling.", "output": {"entities": {"gene": [{"text": "ADAM12", "start": 0, "end": 6}], "disease": [{"text": "adhesion", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Loss of PTEN has been shown to be associated with aggressive behavior of prostate cancer.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 8, "end": 12}], "disease": [{"text": "aggressive behavior", "start": 50, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase.", "output": {"entities": {"gene": [{"text": "ALDH7A1", "start": 90, "end": 97}], "disease": [{"text": "pyridoxine-dependent seizures", "start": 32, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALDH7A1", "start": 90, "end": 97}, "tail": {"text": "pyridoxine-dependent seizures", "start": 32, "end": 61}}]}}, "schema": []}
{"input": "A novel GNAS1 mutation, R201G, in McCune-albright syndrome.", "output": {"entities": {"gene": [{"text": "GNAS1", "start": 8, "end": 13}], "disease": [{"text": "McCune-albright syndrome", "start": 34, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAS1", "start": 8, "end": 13}, "tail": {"text": "McCune-albright syndrome", "start": 34, "end": 58}}]}}, "schema": []}
{"input": "Skin lesions from mycosis fungoides (MF) patients display an increased expression of interleukin-15 (IL-15), IL-17F, and other cytokines implicated in inflammation and malignant cell proliferation in cutaneous T-cell lymphoma (CTCL).", "output": {"entities": {"gene": [{"text": "IL-17F", "start": 109, "end": 115}], "disease": [{"text": "inflammation", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry localized WNT10B and FRP1 in synovial lining cells, fibroblasts, and endothelial cells in RA and OA synovium, respectively, and WNT10B expression was increased in parallel with the degree of inflammatory cell infiltration and tissue fibrosis.", "output": {"entities": {"gene": [{"text": "FRP1", "start": 42, "end": 46}], "disease": [{"text": "fibrosis", "start": 254, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Individuals in the low 5-HTT-expressing group were significantly less sensitive to heat-pain (p = 0. 02) and cold-pain (p = 0. 03), compared to the high-expressing group.", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 23, "end": 28}], "disease": [{"text": "cold", "start": 109, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Heme oxygenase-1 protects rat liver against warm ischemia/reperfusion injury via TLR2/TLR4-triggered signaling pathways.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 81, "end": 85}], "disease": [{"text": "ischemia/reperfusion injury", "start": 49, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR2", "start": 81, "end": 85}, "tail": {"text": "ischemia/reperfusion injury", "start": 49, "end": 76}}]}}, "schema": []}
{"input": "We could also confirm overexpression of these genes in HT-29 MCTSs and in MCTSs formed by the human glioblastoma tumor cell lines U343 MG, U373 MG, and DBTRG 05 MG. Knockdown of KLF5, Erbin, DUSP11, and TCFL5 was effectively achieved after transfection of HT-29 cells with the appropriate short-interfering RNAs (siRNAs), and correlated with a significant inhibition of MCTS formation in the case of KLF5, Erbin, and TCFL5 siRNAs.", "output": {"entities": {"gene": [{"text": "DUSP11", "start": 191, "end": 197}], "disease": [{"text": "glioblastoma", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Combined effects of current-smoking and the aldehyde dehydrogenase 2 * 2 allele on the risk of myocardial infarction in Japanese patients.", "output": {"entities": {"gene": [{"text": "aldehyde dehydrogenase 2", "start": 44, "end": 68}], "disease": [{"text": "smoking", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "These findings also indicate that the hypertension, renal vasoconstriction, and Na + retention accompanying prolonged ANG II infusions may be mediated by calcium-dependent mechanisms.", "output": {"entities": {"gene": [{"text": "ANG", "start": 118, "end": 121}], "disease": [{"text": "hypertension, renal", "start": 38, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The absolute 10-year risk of breast cancer in CHEK2 * 1100delC heterozygotes amounted to 24% in women older than 60 years undergoing hormone replacement therapy, with a body mass index of 25 kg/m2 or higher.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 46, "end": 51}], "disease": [{"text": "body mass index", "start": 169, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Real-time polymerase chain reaction was used for the analysis of mRNA expression of five S1P ((1-5)) and three LPA ((1-3)) receptors on a large panel of 13 colon, breast, melanoma, and lung cancer cell lines.", "output": {"entities": {"gene": [{"text": "LPA", "start": 111, "end": 114}], "disease": [{"text": "lung cancer", "start": 185, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "In addition, ENTPD1-null mice showed increased glomerular inflammation, in association with higher levels of monocyte chemoattractant protein-1 (MCP-1) expression.", "output": {"entities": {"gene": [{"text": "ENTPD1", "start": 13, "end": 19}], "disease": [{"text": "inflammation", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Therefore, Gadd45b may be a novel therapeutic target for the cognitive deficits associated with many neurodevelopmental, neurological, and psychiatric disorders.", "output": {"entities": {"gene": [{"text": "Gadd45b", "start": 11, "end": 18}], "disease": [{"text": "cognitive deficits", "start": 61, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Recently, two patients with the Dowling-Meara subtype of epidermolysis bullosa simplex (EBS-DM) were reported with different mutations in codon 125 of the keratin 14 gene.", "output": {"entities": {"gene": [{"text": "keratin 14", "start": 155, "end": 165}], "disease": [{"text": "EBS-DM", "start": 88, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 14", "start": 155, "end": 165}, "tail": {"text": "EBS-DM", "start": 88, "end": 94}}]}}, "schema": []}
{"input": "The introduction of K-ras (Val12) augmented the hypoxic induction of VEGF, and this was observed in wild-type and HIF-1alpha knockdown colon cancer cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 69, "end": 73}], "disease": [{"text": "hypoxic", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Correlation of major depressive disorder symptoms with FKBP5 but not FKBP4 expression in human immunodeficiency virus-infected individuals.", "output": {"entities": {"gene": [{"text": "FKBP4", "start": 69, "end": 74}], "disease": [{"text": "major depressive disorder", "start": 15, "end": 40}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FKBP4", "start": 69, "end": 74}, "tail": {"text": "major depressive disorder", "start": 15, "end": 40}}]}}, "schema": []}
{"input": "HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA.", "output": {"entities": {"gene": [{"text": "tripartite motif-containing 2", "start": 189, "end": 218}], "disease": [{"text": "OA", "start": 242, "end": 244}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tripartite motif-containing 2", "start": 189, "end": 218}, "tail": {"text": "OA", "start": 242, "end": 244}}]}}, "schema": []}
{"input": "HIF-1α protein expression was induced and the levels of VEGF increased under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 56, "end": 60}], "disease": [{"text": "hypoxic", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The FREQ, LOGISTIC, and GENMOD procedures of SAS (SAS Institute, Cary, NC) were used to evaluate possible risk factors for cyst prevalence, and the MIXED procedure was used to quantify the relationships of visual acuity to retinal thickness measured at different locations within the macula.", "output": {"entities": {"gene": [{"text": "FREQ", "start": 4, "end": 8}], "disease": [{"text": "cyst", "start": 123, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The iNOS transgenic mice (iNOS-Tgm), which developed diabetic glomerulosclerosis resembling human diabetic nephropathy, exhibited markedly increased expressions of ALK1, TCF7L2, Smad1, pSmad1, and α-SMA in glomeruli in association with mesangial matrix expansion.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 178, "end": 183}], "disease": [{"text": "diabetic nephropathy", "start": 98, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Our data also indicate that the ENaC inhibitory domain of SPLUNC1 may be cleaved away from the main molecule by neutrophil elastase, suggesting that it may still be active during inflammation or neutrophilia.", "output": {"entities": {"gene": [{"text": "neutrophil elastase", "start": 112, "end": 131}], "disease": [{"text": "neutrophilia", "start": 195, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Mutation screening of the CHST6 gene has been undertaken to identify the underlying mutations in five unrelated British families with MCD.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 26, "end": 31}], "disease": [{"text": "MCD", "start": 134, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 26, "end": 31}, "tail": {"text": "MCD", "start": 134, "end": 137}}]}}, "schema": []}
{"input": "Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.", "output": {"entities": {"gene": [{"text": "SNRPE", "start": 13, "end": 18}], "disease": [{"text": "hypotrichosis simplex", "start": 94, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SNRPE", "start": 13, "end": 18}, "tail": {"text": "hypotrichosis simplex", "start": 94, "end": 115}}]}}, "schema": []}
{"input": "In multivariate analysis of pretreatment parameters associated with a sustained virological response to treatment, three parameters appeared to be independent predictors of such a response: a low viral load (P < 0. 04), a low anti-HCV core IgM titer (P = 0. 03) and a low genetic complexity of HVR1 major variants (P < 0. 04).", "output": {"entities": {"gene": [{"text": "HVR1", "start": 294, "end": 298}], "disease": [{"text": "viral load", "start": 196, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "LMX1B mutations were identified in 5 of the 8 index cases-three sporadic and two familial.", "output": {"entities": {"gene": [{"text": "LMX1B", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In metastatic melanoma cell lines, PAF induced CREB and ATF-1 phosphorylation via a PAFR-mediated signal transduction mechanism that required pertussis toxin-insensitive Galphaq protein and adenylate cyclase activity and was antagonized by a cAMP-dependent protein kinase A and p38 MAPK inhibitors.", "output": {"entities": {"gene": [{"text": "PAFR", "start": 84, "end": 88}], "disease": [{"text": "metastatic melanoma", "start": 3, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Expression of Twist and Bmi1 is associated with aggressiveness and poor prognoses of IPMN through EMT promotion that might be induced by Notch signaling.", "output": {"entities": {"gene": [{"text": "Bmi1", "start": 24, "end": 28}], "disease": [{"text": "aggressiveness", "start": 48, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We suggest that the melanoma triggers a process leading to an up-regulation of FGF2 in the human eye and this up-regulation might be responsible for the ERG attenuation.", "output": {"entities": {"gene": [{"text": "ERG", "start": 153, "end": 156}], "disease": [{"text": "melanoma", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K (+) channel Kir2. 1.", "output": {"entities": {"gene": [{"text": "KCNJ2", "start": 58, "end": 63}], "disease": [{"text": "AS", "start": 29, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ2", "start": 58, "end": 63}, "tail": {"text": "AS", "start": 29, "end": 31}}]}}, "schema": []}
{"input": "To determine whether RARs play a role in mediating the effects of RA on human esophageal cancer (HEC) cells, we analyzed the effects of RA on: (a) the growth, differentiation, and apoptosis in seven HEC cell lines; (b) receptor expression; (c) receptor modulation by RA; and (d) expression of receptors in 20 surgical HEC specimens.", "output": {"entities": {"gene": [{"text": "HEC", "start": 97, "end": 100}], "disease": [{"text": "esophageal cancer", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We investigated a possible association of DRD3 genotype with DAT and the behavioral and psychological symptoms of dementia (BPSD) in mild DAT.", "output": {"entities": {"gene": [{"text": "DRD3", "start": 42, "end": 46}], "disease": [{"text": "mild", "start": 133, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We aimed to find out the association of TNF-α levels with insulin resistance, body mass index and waist hip ratio; and to elicit its role with respect to duration of the disease, if any.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 40, "end": 45}], "disease": [{"text": "waist hip ratio", "start": 98, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxia, HIF-1alpha is activated in tumor cells, and induces the transcription of vascular endothelial growth factor (VEGF), which is the prime regulator for angiogenesis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 124, "end": 128}], "disease": [{"text": "hypoxia", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "We also demonstrated that RNA interference-mediated down-regulation of bcl-2 expression resulted in a decrease in the ERK1/2 phosphorylation and VEGF secretion only in bcl-2-overexpressing cell exposed to hypoxia but not in control cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 145, "end": 149}], "disease": [{"text": "hypoxia", "start": 205, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "We now demonstrate that the platelet-derived chemokine, platelet factor 4 (PF4)/CXCL4, promotes the development of experimental cerebral malaria (ECM).", "output": {"entities": {"gene": [{"text": "ECM", "start": 146, "end": 149}], "disease": [{"text": "cerebral malaria", "start": 128, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The coding region of the ATP7B gene was scanned by single-stranded conformation polymorphism (SSCP) analysis in 6 cases in whom the diagnosis of WD was uncertain.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 25, "end": 30}], "disease": [{"text": "WD", "start": 145, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 25, "end": 30}, "tail": {"text": "WD", "start": 145, "end": 147}}]}}, "schema": []}
{"input": "Analysis of exons 2-10 of the WT1 gene in constitutional DNA from five patients with DDS was carried out using the polymerase chain reaction (PCR) and direct DNA sequencing.", "output": {"entities": {"gene": [{"text": "WT1", "start": 30, "end": 33}], "disease": [{"text": "DDS", "start": 85, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WT1", "start": 30, "end": 33}, "tail": {"text": "DDS", "start": 85, "end": 88}}]}}, "schema": []}
{"input": "A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 90, "end": 96}], "disease": [{"text": "osteogenesis imperfecta type I", "start": 24, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL1A1", "start": 90, "end": 96}, "tail": {"text": "osteogenesis imperfecta type I", "start": 24, "end": 54}}]}}, "schema": []}
{"input": "In monocytic THP-1 and primary airway smooth muscle cells, Wnt4 induced inflammation and enhanced the inflammatory response to lipopolysaccharide and IL-1β but did not induce proliferation.", "output": {"entities": {"gene": [{"text": "Wnt4", "start": 59, "end": 63}], "disease": [{"text": "inflammation", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The association between alcohol consumption, ADH1B or ADH1C genotypes, and CVD-risk was assessed using Cox proportional hazards regression.", "output": {"entities": {"gene": [{"text": "ADH1B", "start": 45, "end": 50}], "disease": [{"text": "regression", "start": 128, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Moreover, WT mice reconstituted long-term with Erk1 (-/-) bone marrow mononuclear cells (BMMNCs) demonstrated increased bone mineral density as compared to recipients transplanted with WT and Erk2 (-/-) BMMNCs, implicating marrow autonomous, Erk1-dependent osteoclast function.", "output": {"entities": {"gene": [{"text": "Erk2", "start": 192, "end": 196}], "disease": [{"text": "bone mineral density", "start": 120, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "In vitro, caspase-2 activation in RCC cell lines coincidenced with sensitivity of tumour cells towards Topotecan-induced apoptosis.", "output": {"entities": {"gene": [{"text": "caspase-2", "start": 10, "end": 19}], "disease": [{"text": "RCC", "start": 34, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caspase-2", "start": 10, "end": 19}, "tail": {"text": "RCC", "start": 34, "end": 37}}]}}, "schema": []}
{"input": "The aim of this study was to in vitro characterize the germline CDKN1B mutation c. 374_375delCT (S125X) we detected in a patient with MEN4.", "output": {"entities": {"gene": [{"text": "CDKN1B", "start": 64, "end": 70}], "disease": [{"text": "MEN4", "start": 134, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDKN1B", "start": 64, "end": 70}, "tail": {"text": "MEN4", "start": 134, "end": 138}}]}}, "schema": []}
{"input": "Changes of food and water intakes, body weight, blood glucose, plasma insulin and immunohistochemical evaluation of insulin on pancreas, and mRNA expression of glucose transporter subtype-4 (GLUT-4) in skeletal muscle and hepatic phosphoenolpyruvate carboxykinase (PEPCK) by administration of NHF (300 mg/kg) were investigated.", "output": {"entities": {"gene": [{"text": "PEPCK", "start": 265, "end": 270}], "disease": [{"text": "body weight", "start": 35, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates that doxycycline significantly delays aneurysm rupture in MFS-like mice by inhibiting expression of tissue MMP-2 and MMP-9 and thus, degradation of the elastic matrix.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 141, "end": 146}], "disease": [{"text": "MFS", "start": 82, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 141, "end": 146}, "tail": {"text": "MFS", "start": 82, "end": 85}}]}}, "schema": []}
{"input": "Taken together, our results show that the strategy of pooling DNA is a powerful, cost-effective application for WES in consanguineous families and establish PAX1 as a new disease-causing gene for OFCS and as part of the EYA-DACH-SIX-PAX network, important in early embryogenesis.", "output": {"entities": {"gene": [{"text": "PAX1", "start": 157, "end": 161}], "disease": [{"text": "OFCS", "start": 196, "end": 200}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX1", "start": 157, "end": 161}, "tail": {"text": "OFCS", "start": 196, "end": 200}}]}}, "schema": []}
{"input": "De novo t (12; 17) (p13. 3; q21. 3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations.", "output": {"entities": {"gene": [{"text": "HOXB gene", "start": 91, "end": 100}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Clinical characteristics of APL with STAT5B-RARA are also discussed.", "output": {"entities": {"gene": [{"text": "STAT5B", "start": 37, "end": 43}], "disease": [{"text": "APL", "start": 28, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STAT5B", "start": 37, "end": 43}, "tail": {"text": "APL", "start": 28, "end": 31}}]}}, "schema": []}
{"input": "We report here that ginkgo flavonols quercetin and kaempferol stimulates depression-related signaling pathways involving brain-derived neurotrophic factor BDNF/phosphorylation of cyclic AMP response element binding protein CREB/postsynaptic density proteins PSD95, and reduces amyloid-beta peptide (Abeta) in neurons isolated from double transgenic AD mouse (TgAPPswe/PS1e9).", "output": {"entities": {"gene": [{"text": "PSD95", "start": 258, "end": 263}], "disease": [{"text": "depression", "start": 73, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD95", "start": 258, "end": 263}, "tail": {"text": "depression", "start": 73, "end": 83}}]}}, "schema": []}
{"input": "Our findings suggest that UCP2 and UCP4 have a modest but important involvement in the genetic etiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "UCP4", "start": 35, "end": 39}], "disease": [{"text": "schizophrenia", "start": 107, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "UCP4", "start": 35, "end": 39}, "tail": {"text": "schizophrenia", "start": 107, "end": 120}}]}}, "schema": []}
{"input": "We therefore propose that prolactin receptor signaling contributes to the local inflammatory response within the atherosclerotic plaque and thus to atherogenesis.", "output": {"entities": {"gene": [{"text": "prolactin receptor", "start": 26, "end": 44}], "disease": [{"text": "atherogenesis", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "It was hypothesized that treating the lung with penehyclidine hydrochloride (PHC), a new type of hyoscyamus drug, early in the development of sepsis could diminish the lung dysfunction.", "output": {"entities": {"gene": [{"text": "PHC", "start": 77, "end": 80}], "disease": [{"text": "sepsis", "start": 142, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "CAR and PXR are involved in the development of certain diseases, including diabetes, metabolic syndrome and obesity.", "output": {"entities": {"gene": [{"text": "CAR", "start": 0, "end": 3}], "disease": [{"text": "metabolic syndrome", "start": 85, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAR", "start": 0, "end": 3}, "tail": {"text": "metabolic syndrome", "start": 85, "end": 103}}]}}, "schema": []}
{"input": "Using lentiviral gene transfer, microarray and Q-RT-PCR technologies, we identify rs2670660 allele-specific gene expression signatures (GES) which appear useful for detecting the activated states of innate immunity/inflammasome pathways in approximately 700 clinical samples from 185 control subjects and 350 patients diagnosed with nine common human disorders, including Crohn' s disease, ulcerative colitis, rheumatoid arthritis, Huntington disease, autism, Alzheimer disease, obesity, prostate and breast cancers.", "output": {"entities": {"gene": [{"text": "GES", "start": 136, "end": 139}], "disease": [{"text": "ulcerative colitis", "start": 390, "end": 408}]}, "relations": {}}, "schema": []}
{"input": "Congenital hypomyelinating neuropathy (CHN; MIM #605253) is a severe neuropathy with early infancy onset inherited as an autosomal dominant or recessive trait.", "output": {"entities": {"gene": [{"text": "MIM", "start": 44, "end": 47}], "disease": [{"text": "neuropathy", "start": 27, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "TNBS and DSS induced more severe levels of inflammation in β-actin-hPepT1 transgenic mice than wild-type littermates.", "output": {"entities": {"gene": [{"text": "β-actin", "start": 59, "end": 66}], "disease": [{"text": "inflammation", "start": 43, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Concomitantly, ORM relieved hyperglycemia-induced insulin resistance as well as tumor necrosis factor-alpha-mediated lipolysis in adipocytes.", "output": {"entities": {"gene": [{"text": "ORM", "start": 15, "end": 18}], "disease": [{"text": "insulin resistance", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We previously reported that maximal body weight loss (inadequate feeding) is an independent risk factor for the development of hyperbilirubinemia in breast-fed Japanese neonates, and the UGT1A1 211G > A genotype becomes a risk factor under conditions of inadequate feeding.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 187, "end": 193}], "disease": [{"text": "body weight", "start": 36, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We show for the first time that antibody blockade of PVR or PVRL2 on AML cell lines or primary AML cells or TIGIT blockade on immune cells increases the anti-leukemic effects mediated by PBMCs or purified CD3 & lt; sup & gt; + & lt;/sup & gt; cells in vitro.", "output": {"entities": {"gene": [{"text": "PVRL2", "start": 60, "end": 65}], "disease": [{"text": "AML", "start": 69, "end": 72}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PVRL2", "start": 60, "end": 65}, "tail": {"text": "AML", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry & #8805; 1 non-truncating mutation.", "output": {"entities": {"gene": [{"text": "MKS1", "start": 89, "end": 93}], "disease": [{"text": "MKS", "start": 56, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MKS1", "start": 89, "end": 93}, "tail": {"text": "MKS", "start": 56, "end": 59}}]}}, "schema": []}
{"input": "The blocking of the Ku70 and Ku86 interaction by HSF1 induced defective NHEJ repair activity and ultimately activated genomic instability after ionizing radiation (IR), which was similar to effects seen in Ku70 or Ku80 knockout cells.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 49, "end": 53}], "disease": [{"text": "genomic instability", "start": 118, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "In familial pulmonary fibrosis, asymptomatic preclinical alveolar inflammation associated with mutation in TERT and telomerase insufficiency can progress to fibrotic lung disease over 2 to 3 decades.", "output": {"entities": {"gene": [{"text": "TERT", "start": 107, "end": 111}], "disease": [{"text": "inflammation", "start": 66, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "This study was undertaken to investigate the expression of TSLP in the giant papillae obtained from patients with vernal keratoconjunctivitis (VKC) or atopic keratoconjunctivitis (AKC), and its functional roles were analyzed.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 59, "end": 63}], "disease": [{"text": "giant", "start": 71, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Using exome sequencing, we identified a homozygous mutation, Pro-304-His in the IDH3A gene, in a patient suffering from infantile encephalopathy with peripheral and autonomic nervous system involvement.", "output": {"entities": {"gene": [{"text": "IDH3A", "start": 80, "end": 85}], "disease": [{"text": "infantile encephalopathy", "start": 120, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IDH3A", "start": 80, "end": 85}, "tail": {"text": "infantile encephalopathy", "start": 120, "end": 144}}]}}, "schema": []}
{"input": "Critical role of hypoxia sensor--HIF-1α in VEGF gene activation. Implications for angiogenesis and tissue injury healing.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 43, "end": 47}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Cellular studies showed that miR-133b enhances cell proliferation and colony formation by targeting mammalian sterile 20-like kinase 2 (MST2), cell division control protein 42 homolog (CDC42) and ras homolog gene family member A (RHOA), which subsequently results in activation of the tumorigenic protein kinase B alpha (AKT1) and mitogen-activated protein kinase (ERK1 and ERK2, here abbreviated as ERK) signaling pathways.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 321, "end": 325}], "disease": [{"text": "sterile", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "To this end reverse transcription-polymerase chain reaction (RT-PCR) was performed for interferon (IFN) gamma, interleukin (IL)-2, IL-4, IL-5, IL-10, IL-12 (p35 and p40), and transforming growth factor (TGF beta 1) in snap-frozen cervical biopsies, which were tested for the presence of high risk HPV DNA and histologically classified from normal to invasive carcinoma (n = 40).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 131, "end": 135}], "disease": [{"text": "invasive carcinoma", "start": 350, "end": 368}]}, "relations": {}}, "schema": []}
{"input": "Hence, in the presence of MPS1 inhibitors, cells either divided in a bipolar (but often asymmetric) manner or entered one or more rounds of abortive mitoses, generating gross aneuploidy and polyploidy, respectively.", "output": {"entities": {"gene": [{"text": "MPS1", "start": 26, "end": 30}], "disease": [{"text": "aneuploidy", "start": 175, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Human gastric cancer tissues were isolated as well as human gastric cell lines MGC803 and BGC823 were cultured to investigate the role of BANCR in gastric cancer.", "output": {"entities": {"gene": [{"text": "BANCR", "start": 138, "end": 143}], "disease": [{"text": "gastric cancer", "start": 6, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Sequence analysis revealed that the translocation broke the 3' side of the Ig heavy chain diversity (DH) segment at the heptamer recombination signal and each end was ligated to the bcl-2 locus.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 182, "end": 187}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Sertraline significantly reduced the average depression and anxiety subscale scores of HADS, as well as the scores of the subscales of Mini-MAC.", "output": {"entities": {"gene": [{"text": "MAC", "start": 140, "end": 143}], "disease": [{"text": "anxiety", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In contrast, in this report we demonstrate that lung tissue from patients undergoing lung reduction surgery for advanced emphysema, without clinical or anatomical evidence of acute infection, displays a selective and apparently sustained increase in Egr-1 transcripts and antigen, compared with a broad survey of other genes, including the transcription factor Sp1, whose levels were not significantly altered.", "output": {"entities": {"gene": [{"text": "transcription factor Sp1", "start": 340, "end": 364}], "disease": [{"text": "emphysema", "start": 121, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The shifted steady-state inactivation shows similarities to that obtained from axotomized dorsal root ganglions, which were shown to upregulate Nav1. 3.", "output": {"entities": {"gene": [{"text": "Nav1. 3", "start": 144, "end": 151}], "disease": [{"text": "ganglions", "start": 102, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In t (8; 21) leukemic cells, very stable interactions between AML1-ETO and E proteins underlie a t (8; 21) translocation-specific silencing of E protein function through an aberrant cofactor exchange mechanism.", "output": {"entities": {"gene": [{"text": "AML1", "start": 62, "end": 66}], "disease": [{"text": "translocation", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Activity of GFR/PI3K/AKT pathway inhibitors in glioblastoma clinical trials has not been robust.", "output": {"entities": {"gene": [{"text": "GFR", "start": 12, "end": 15}], "disease": [{"text": "glioblastoma", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Neurochemical changes in LPA1 receptor deficient mice--a putative model of schizophrenia.", "output": {"entities": {"gene": [{"text": "LPA1", "start": 25, "end": 29}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LPA1", "start": 25, "end": 29}, "tail": {"text": "schizophrenia", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "Metformin increased in vitro angiogenesis under hyperglycemia-hypoxia and augmented the expression of VEGFA.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 102, "end": 107}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "PRLR (I146L) is the first identified gain-of-function variant of the prolactin receptor (PRLR) that was proposed to be associated with benign breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "PRLR", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Compared with CA2 and CA4, CA16 infections resulted in more cases of HFMD and had significantly higher transmission rates in preschoolers.", "output": {"entities": {"gene": [{"text": "CA4", "start": 22, "end": 25}], "disease": [{"text": "infections", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Aromatic hydrocarbon receptor (AHR), a receptor for dioxin-like compounds, functions as a transcription factor through dimerization with hypoxia-inducible factors 1β (HIF-1β) and inhibits the secretion of vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 241, "end": 245}], "disease": [{"text": "hypoxia", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Poststroke depression (PSD) is one of the most common neuropsychiatric complications after stroke.", "output": {"entities": {"gene": [{"text": "PSD", "start": 23, "end": 26}], "disease": [{"text": "stroke", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "(iii) To determine if P-cadherin is functional regarding catenin binding in polyps.", "output": {"entities": {"gene": [{"text": "P-cadherin", "start": 22, "end": 32}], "disease": [{"text": "polyps", "start": 76, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15).", "output": {"entities": {"gene": [{"text": "PAX8", "start": 113, "end": 117}], "disease": [{"text": "sporadic", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "This raises the possibility that pressure overload, through a GSK-3β-dependent mechanism, increases GADD153 expression, thereby upregulating inflammatory cytokine production and contributing to worsening of myocardial ischemia reperfusion injury.", "output": {"entities": {"gene": [{"text": "GADD153", "start": 100, "end": 107}], "disease": [{"text": "myocardial ischemia", "start": 207, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxic conditions, the mRNA and protein levels of ADM, as well as those of the cancer‑promoting genes vascular endothelial growth factor and hypoxia‑inducible factor 1α, were significantly elevated in a time‑dependent manner in three human HCC cell lines.", "output": {"entities": {"gene": [{"text": "ADM", "start": 57, "end": 60}], "disease": [{"text": "hypoxic", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Hence, chloroform prevented the hypomethylation and increased mRNA expression of the c-myc gene and the promotion of liver tumors by DCA, while enhancing DCA-promotion of kidney tumors.", "output": {"entities": {"gene": [{"text": "c-myc", "start": 85, "end": 90}], "disease": [{"text": "liver tumors", "start": 117, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "c-myc", "start": 85, "end": 90}, "tail": {"text": "liver tumors", "start": 117, "end": 129}}]}}, "schema": []}
{"input": "Mice lacking MAT1A have reduced hepatic S-adenosylmethionine content and hyperplasia and spontaneously develop nonalcoholic steatohepatitis.", "output": {"entities": {"gene": [{"text": "MAT1A", "start": 13, "end": 18}], "disease": [{"text": "hyperplasia", "start": 73, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAT1A", "start": 13, "end": 18}, "tail": {"text": "hyperplasia", "start": 73, "end": 84}}]}}, "schema": []}
{"input": "PGC-1-related coactivator and targets are upregulated in thyroid oncocytoma.", "output": {"entities": {"gene": [{"text": "PGC", "start": 0, "end": 3}], "disease": [{"text": "oncocytoma", "start": 65, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Previous studies demonstrated that HLA-DR4 was markedly increased among Ashkenazi Jewish patients with pemphigus vulgaris (PV), almost entirely as the common Jewish extended haplotype [HLA-B38, SC21, DR4, DQw8] or as the haplotype HLA-B35, SC31, DR4, DQw8, and that HLA-DR4, DQw8 was distributed among patients in a manner consistent with dominant expression of a class II (D-region or D-region-linked) susceptibility gene.", "output": {"entities": {"gene": [{"text": "DR4", "start": 39, "end": 42}], "disease": [{"text": "pemphigus vulgaris", "start": 103, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The hemogram showed a phenotype of beta-thalassemia minor: Hb (13. 1 g/dL), mean corpuscular volume (MCV) (62 fL) with low mean corpuscular hemoglobin (MCH) (20. 8 pg), associated with a high level of Hb A (2) of 5. 3%.", "output": {"entities": {"gene": [{"text": "MCH", "start": 152, "end": 155}], "disease": [{"text": "mean corpuscular hemoglobin", "start": 123, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Reactive oxygen species (ROS) derived from NADPH oxidases (Nox), and transforming growth factor-β (1) (TGF-β (1)) have been implicated in the pathogenesis of hypoxia-induced remodeling.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 103, "end": 108}], "disease": [{"text": "hypoxia", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "In addition, patients carrying the delta ccr5 allele tend to show a slow progression towards HIV-1-related disease, remaining asymptomatic for longer periods of time.", "output": {"entities": {"gene": [{"text": "ccr5", "start": 41, "end": 45}], "disease": [{"text": "slow progression", "start": 68, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that SIRT6 suppressed cardiomyocyte hypertrophy in vitro via inhibition of NF-κB-dependent transcriptional activity and that this effect was dependent on its deacetylase activity.", "output": {"entities": {"gene": [{"text": "SIRT6", "start": 26, "end": 31}], "disease": [{"text": "cardiomyocyte hypertrophy", "start": 43, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Therefore, down-regulation of HCN1 associated with human epilepsy and rodent models may be a contributing factor in seizure behavior.", "output": {"entities": {"gene": [{"text": "HCN1", "start": 30, "end": 34}], "disease": [{"text": "seizure", "start": 116, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HCN1", "start": 30, "end": 34}, "tail": {"text": "seizure", "start": 116, "end": 123}}]}}, "schema": []}
{"input": "To our knowledge, this is the first report in the literature of patients presenting with autosomal dominant osteosclerosis in whom a variable expression of craniosynostosis, macrocephaly, and mild developmental delay is observed, which is most likely associated with a mutation in the LRP5 gene.", "output": {"entities": {"gene": [{"text": "LRP5 gene", "start": 285, "end": 294}], "disease": [{"text": "mild", "start": 192, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that the common variants of WLS analyzed in this study are not associated with opioid or cocaine addiction.", "output": {"entities": {"gene": [{"text": "WLS", "start": 47, "end": 50}], "disease": [{"text": "cocaine addiction", "start": 108, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Our findings reveal important pathophysiological differences between human IPF and specific mouse models of fibrosis and support a crucial role of GRHL2 in epithelial activation in lung fibrosis and perhaps also in epithelial plasticity.", "output": {"entities": {"gene": [{"text": "GRHL2", "start": 147, "end": 152}], "disease": [{"text": "fibrosis", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Urethane-induced lung tumors in mice frequently harbor mutations in the Kras oncogene, and in this study, we use this model to address the regulation of p27 during tumorigenesis.", "output": {"entities": {"gene": [{"text": "p27", "start": 153, "end": 156}], "disease": [{"text": "tumorigenesis", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "At the molecular level, cold is detected by transient receptor potential melastatin 8 (TRPM8).", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 87, "end": 92}], "disease": [{"text": "cold", "start": 24, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Elevated ApoA1 level may be a risk factor for a first hemorrhagic stroke.", "output": {"entities": {"gene": [{"text": "ApoA1", "start": 9, "end": 14}], "disease": [{"text": "hemorrhagic stroke", "start": 54, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of tight junction protein 1 encoding zona occludens 1 as a candidate gene for albuminuria in a Mexican American population.", "output": {"entities": {"gene": [{"text": "zona occludens 1", "start": 48, "end": 64}], "disease": [{"text": "albuminuria", "start": 89, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Augmentation of disease risk was found for the complex genotype HM74 [A, any] + MCHR1 [T, any] + MCHR2 [C, any] which conferred an OR maximal for the combined diagnostic category of schizophrenia plus bipolar disorder (1. 70, p = 0. 003), carried by 30% of the cases.", "output": {"entities": {"gene": [{"text": "MCHR1", "start": 80, "end": 85}], "disease": [{"text": "bipolar disorder", "start": 201, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCHR1", "start": 80, "end": 85}, "tail": {"text": "bipolar disorder", "start": 201, "end": 217}}]}}, "schema": []}
{"input": "Populations of infertile and fertile men were screened for mutations in SPO11 and EIF5A2, two infertility candidate genes.", "output": {"entities": {"gene": [{"text": "EIF5A2", "start": 82, "end": 88}], "disease": [{"text": "infertility", "start": 94, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "However, in the EPO + VEGF group infarct size was significantly smaller than in the groups receiving EPO or VEGF individually (p < 0. 05).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 22, "end": 26}], "disease": [{"text": "infarct", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In this study, we have found that spartin is mono-ubiquitinated and functions in degradation of the epidermal growth factor receptor (EGFR).", "output": {"entities": {"gene": [{"text": "spartin", "start": 34, "end": 41}], "disease": [{"text": "mono", "start": 45, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The polyps were immunostained for PD-ECGF and vascular endothelial cell growth factor (VEGF), as well as for Ki-67 antigen and p53.", "output": {"entities": {"gene": [{"text": "endothelial cell growth factor", "start": 55, "end": 85}], "disease": [{"text": "polyps", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Epigenetic DNA hypermethylation of the HERP gene promoter induces down-regulation of its mRNA expression in patients with alcohol dependence.", "output": {"entities": {"gene": [{"text": "HERP", "start": 39, "end": 43}], "disease": [{"text": "alcohol dependence", "start": 122, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HERP", "start": 39, "end": 43}, "tail": {"text": "alcohol dependence", "start": 122, "end": 140}}]}}, "schema": []}
{"input": "Screening for rearrangements should be part of comprehensive CFTR gene studies in CBAVD patients and may have impacts on genetic counselling for the patients and their families.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 61, "end": 65}], "disease": [{"text": "CBAVD", "start": 82, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 61, "end": 65}, "tail": {"text": "CBAVD", "start": 82, "end": 87}}]}}, "schema": []}
{"input": "METHODS: We investigated the association of NER SNPs (XPA A23G, XPC Ci11A, XPC C2919A and ERCC1 C118T) with phototherapy efficacy in 86 patients with vitiligo who received NB-UVB treatment.", "output": {"entities": {"gene": [{"text": "XPA", "start": 54, "end": 57}], "disease": [{"text": "vitiligo", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The basic molecular defect consists of the t (14; 18) (q32; q21) translocation, juxtaposing the B-cell lymphoma protein 2 gene BCL2 to the immunoglobulin heavy chain locus IGH @, and leading to the antiapoptotic BCL2 protein overproduction.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 127, "end": 131}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "These differential disease associations of HLA-B27 subtypes, and the recent discovery that ERAP1 is associated with ankylosing spondylitis for patients with HLA-B27, have increased attempts to determine the function of HLA-B27 in disease pathogenesis by studying hemodynamic features of its protein structure, alterations of its peptidome, aberrant peptide handling, and associated molecular events.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 91, "end": 96}], "disease": [{"text": "spondylitis", "start": 127, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The frequencies of IL-1beta + 3 594T, IL-10-1082G and CD14-159T allele were similar in patients with mild or severe pancreatitis and in controls.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 38, "end": 43}], "disease": [{"text": "mild", "start": 101, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "HGF mRNA and HGF activity increase markedly in the liver of rats after various liver injuries such as hepatitis, ischemia, physical crush, and partial hepatectomy.", "output": {"entities": {"gene": [{"text": "HGF", "start": 0, "end": 3}], "disease": [{"text": "ischemia", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We propose a model with two pathways for labyrinthine trophoblast differentiation of TS cells, one of which is dependent on PPARγ and inhibited by hypoxia.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 124, "end": 129}], "disease": [{"text": "hypoxia", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Moreover, DDX3 expression correlated with hypoxia-related proteins EGFR, HER2, FOXO4, ERα and c-Met in a HIF-1α dependent fashion, and with COMMD1, FER kinase, Akt1, E-cadherin, TfR and FOXO3A independent of HIF-1α.", "output": {"entities": {"gene": [{"text": "DDX3", "start": 10, "end": 14}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In the present study, a dual‑regulated oncolytic adenovirus expressing the interluekin (IL)‑24 gene (Ki67‑ZD55‑IL‑24) was constructed utilizing the Ki67 promoter to replace the native viral promoter of the E1A gene.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 101, "end": 105}], "disease": [{"text": "adenovirus", "start": 49, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We also investigated whether RPN2 affects cancer malignancy in vitro and tumor growth and drug resistance in vivo.", "output": {"entities": {"gene": [{"text": "RPN2", "start": 29, "end": 33}], "disease": [{"text": "malignancy", "start": 49, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The levels and patterns of DNA methylation are regulated by both DNA methyltransferases (DNMT1, DNMT3A and DNMT3B) and' demethylating' proteins, including the ten-eleven translocation (TET) family of dioxygenases (TET1, TET2 and TET3).", "output": {"entities": {"gene": [{"text": "DNMT3B", "start": 107, "end": 113}], "disease": [{"text": "translocation", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "We conclude that these variants in TJP1 do not appear to be major determinants for albuminuria in the SAFDGS; however, they may play a minor role in its severity in this Mexican-American population.", "output": {"entities": {"gene": [{"text": "TJP1", "start": 35, "end": 39}], "disease": [{"text": "albuminuria", "start": 83, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Meta-analysis identified 19 genome-wide significant single nucleotide polymorphisms (SNPs) in C9orf72 on chromosome 9p21. 2 (lowest p = 2. 6 & #215; 10 (-12)) and 1 SNP in UNC13A on chromosome 19p13. 11 (p = 1. 0 & #215; 10 (-11)) as shared susceptibility loci for ALS and FTD-TDP.", "output": {"entities": {"gene": [{"text": "UNC13A", "start": 172, "end": 178}], "disease": [{"text": "ALS", "start": 265, "end": 268}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UNC13A", "start": 172, "end": 178}, "tail": {"text": "ALS", "start": 265, "end": 268}}]}}, "schema": []}
{"input": "Our study confirmed the association between the G84E mutation of HOXB13 and risk of prostate cancer among subjects of European descent.", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 65, "end": 71}], "disease": [{"text": "prostate cancer", "start": 84, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXB13", "start": 65, "end": 71}, "tail": {"text": "prostate cancer", "start": 84, "end": 99}}]}}, "schema": []}
{"input": "The dihydropyrimidinase-like 3 (DPYSL3) or Collapsin Response Mediator Protein 4a (CRMP4a) expression is modified in neurodegeneration and is involved in several ALS-associated pathways including axonal transport, glutamate excitotoxicity, and oxidative stress.", "output": {"entities": {"gene": [{"text": "DPYSL3", "start": 32, "end": 38}], "disease": [{"text": "neurodegeneration", "start": 117, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we demonstrated that TPZ was equally effective and hypoxia-selective even in the presence of the EBV oncoprotein, LMP1 or the EBV genome.", "output": {"entities": {"gene": [{"text": "LMP1", "start": 127, "end": 131}], "disease": [{"text": "hypoxia", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We tested if dimethylfumarate (DMF), an anti-psoriasis drug, could inhibit abnormal vascular remodeling via NF-E2-related factor 2 (Nrf2)-NAD (P) H quinone oxidoreductase 1 (NQO1) activity.", "output": {"entities": {"gene": [{"text": "quinone oxidoreductase", "start": 148, "end": 170}], "disease": [{"text": "psoriasis", "start": 45, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates that the Chinese PXE population harbors unique ABCC6 mutations.", "output": {"entities": {"gene": [{"text": "ABCC6", "start": 71, "end": 76}], "disease": [{"text": "PXE", "start": 41, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC6", "start": 71, "end": 76}, "tail": {"text": "PXE", "start": 41, "end": 44}}]}}, "schema": []}
{"input": "ACE2 deficiency impairs cardiac contractility and upregulates hypoxia-induced genes, suggesting a link with myocardial ischaemia.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In Ncc (-/-) mice, serum Ca and GFR were unchanged, but UVCa was reduced and PTH was elevated; Mg repletion largely corrected both abnormalities.", "output": {"entities": {"gene": [{"text": "GFR", "start": 32, "end": 35}], "disease": [{"text": "abnormalities", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "BDNF induced a 2-to 4-fold increase in VEGF promoter activity, which could be abrogated if the hypoxia response element in the VEGF promoter was mutated.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 39, "end": 43}], "disease": [{"text": "hypoxia", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The relationship between the presence of pheochromocytoma (PC) and/or hiperparathyroidism (HPT) in carriers of the same RET mutation, and the genotype for the specific variants was also studied.", "output": {"entities": {"gene": [{"text": "HPT", "start": 91, "end": 94}], "disease": [{"text": "pheochromocytoma", "start": 41, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, neither measure of dependence was affected by possession of the A1 allele; the only difference between DRD2 * A1 bearing and DRD2 * A2 homozygous individuals in terms of smoking motives was found in the scores for indulgence; the former having a moderately reduced score (by 17%, p < 0. 05).", "output": {"entities": {"gene": [{"text": "DRD2", "start": 116, "end": 120}], "disease": [{"text": "smoking", "start": 183, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Sputum VEGF levels are reported to be decreased in COPD, despite hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 7, "end": 11}], "disease": [{"text": "hypoxia", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Double-blind, placebo-controlled study of HGF gene therapy in diabetic neuropathy.", "output": {"entities": {"gene": [{"text": "HGF", "start": 42, "end": 45}], "disease": [{"text": "diabetic neuropathy", "start": 62, "end": 81}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HGF", "start": 42, "end": 45}, "tail": {"text": "diabetic neuropathy", "start": 62, "end": 81}}]}}, "schema": []}
{"input": "As expected, EGFR and its downstream molecules, signal transducer and activator of transcription 3, v-Akt murine thymoma viral oncogene homologue, and extracellular signal-regulated kinase 1/2, were phosphorylated by SPINK1 as well as EGF.", "output": {"entities": {"gene": [{"text": "SPINK1", "start": 217, "end": 223}], "disease": [{"text": "thymoma", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "In line with the absence of an effect of CETP on tissue-specific TG uptake, CETP also did not affect weight gain in response to a high-fat diet.", "output": {"entities": {"gene": [{"text": "CETP", "start": 41, "end": 45}], "disease": [{"text": "weight gain", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Every tumor with molecular-genetic evidence of t (14; 18) translocation expressed detectable levels of bcl-2 protein, regardless of whether the breakpoint was located in or at a distance from the bcl-2 gene.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 196, "end": 206}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Although MR-1 gene function is unknown, the precedence of ion channel disturbance in other episodic neurologic disorders suggests that the pathophysiologic features of PDC also involve abnormal ion localization.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 9, "end": 13}], "disease": [{"text": "neurologic disorders", "start": 100, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Compared with healthy subjects, patients with gingivitis, chronic and aggressive periodontitis, exhibited higher NFATc1 expression, which proved to be statistically significant in the periodontitis groups.", "output": {"entities": {"gene": [{"text": "NFATc1", "start": 113, "end": 119}], "disease": [{"text": "aggressive periodontitis", "start": 70, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Moyamoya disease (MMD) is a cerebrovascular disease characterized by occlusive lesions in the Circle of Willis.", "output": {"entities": {"gene": [{"text": "MMD", "start": 18, "end": 21}], "disease": [{"text": "cerebrovascular disease", "start": 28, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 12, "end": 16}], "disease": [{"text": "nevus sebaceous", "start": 42, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRAS", "start": 12, "end": 16}, "tail": {"text": "nevus sebaceous", "start": 42, "end": 57}}]}}, "schema": []}
{"input": "To test whether lung overexpression of the angiogenic factor vascular endothelial growth factor (VEGF) is beneficial in hypoxic PH, recombinant adenovirus encoding the human VEGF 165 gene under the control of a cytomegalovirus promoter (Ad.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 97, "end": 101}], "disease": [{"text": "hypoxic", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Here we present evidence that S100A8/A9 interact with RAGE and carboxylated glycans on colon tumor cells and promote activation of MAPK and NF-κB signaling pathways.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 54, "end": 58}], "disease": [{"text": "colon tumor", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Pressure-induced AKT translocation and phosphorylation to the membrane were compared, along with the stimulation of cell adhesion by pressure.", "output": {"entities": {"gene": [{"text": "AKT", "start": 17, "end": 20}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "A restricted spectrum of NRAS mutations causes Noonan syndrome.", "output": {"entities": {"gene": [{"text": "NRAS", "start": 25, "end": 29}], "disease": [{"text": "Noonan syndrome", "start": 47, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NRAS", "start": 25, "end": 29}, "tail": {"text": "Noonan syndrome", "start": 47, "end": 62}}]}}, "schema": []}
{"input": "The objective of this study was to evaluate the association between magnetic resonance imaging (MRI) subclinical brain lesions and cerebrovascular risk factors (hyperhomocysteinaemia, MTHFR genotype, patent foramen ovale, hypertension, smoking and hypercholesterolaemia).", "output": {"entities": {"gene": [{"text": "MRI", "start": 96, "end": 99}], "disease": [{"text": "smoking", "start": 236, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "A new nonrandom chromosomal abnormality, t (2; 16) (p11. 2; p11. 2), possibly associated with poor outcome in childhood acute lymphoblastic leukemia.", "output": {"entities": {"gene": [{"text": "p11", "start": 52, "end": 55}], "disease": [{"text": "chromosomal abnormality", "start": 16, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "When compared with the findings in other soft tissue tumors such as well-differentiated liposarcoma and low-grade malignant fibrous histiocytoma, the chromosome banding and in situ hybridization data add support to the notion that SEF is a relatively low grade variant of fibrosarcoma.", "output": {"entities": {"gene": [{"text": "SEF", "start": 231, "end": 234}], "disease": [{"text": "malignant fibrous histiocytoma", "start": 114, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The identification of OSMR and IL31RA gene pathology provides an explanation of the high prevalence of PCA in Taiwan as well as new insight into disease pathophysiology.", "output": {"entities": {"gene": [{"text": "IL31RA", "start": 31, "end": 37}], "disease": [{"text": "PCA", "start": 103, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IL31RA", "start": 31, "end": 37}, "tail": {"text": "PCA", "start": 103, "end": 106}}]}}, "schema": []}
{"input": "Here we show that monocyte-derived DCs from persons with chronic HCV infection, with or without HIV-1 coinfection, being treated with combination antiretroviral therapy produced lower levels of interleukin 12 (IL-12) p70 in response to CD40 ligand (CD40L), whereas the expression of DC surface activation and costimulatory molecules was unimpaired.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 249, "end": 254}], "disease": [{"text": "coinfection", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "This particular sebaceous gland carcinoma presented with concomitant genomic deletions at the BRCA1 and BRCA2 loci, and also at the constitutively fragile sites FRA3B/FHIT and FRA16D/WWOX.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 104, "end": 109}], "disease": [{"text": "sebaceous gland carcinoma", "start": 16, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Although the disease is associated with genome instability brought on by genetics and environmental factors there is evidence that mutations in the gene encoding for the breast cancer type 1 susceptibility protein (BRCA1) or its down-regulation are involved in its development.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 215, "end": 220}], "disease": [{"text": "genome instability", "start": 40, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Combined analysis revealed that atopic asthmatic children co-inherited the risk alleles of TNF-alpha-308G/A and IL-13 + 2044G/A more frequently than control children (aOR 1. 91, 95% CI 1. 00-3. 65), and asthmatic children co-inheriting both risk alleles had significantly lower PC (20) values vs. asthmatic children homozygous for the common alleles (P = 0. 024).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 91, "end": 100}], "disease": [{"text": "atopic", "start": 32, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Our results revealed that PDPK1 is a pivotal regulator of molecules that are essential for myelomagenesis, such as RSK2, AKT, c-MYC, IRF4, or cyclin Ds, and that PDPK1 inhibition caused the growth inhibition and the induction of apoptosis with the activation of BIM and BAD, and augmented the in vitro cytotoxic effects of antimyeloma agents in myeloma cells.", "output": {"entities": {"gene": [{"text": "BAD", "start": 270, "end": 273}], "disease": [{"text": "myeloma", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Preclinical evaluation of melanin-concentrating hormone receptor 1 antagonism for the treatment of obesity and depression.", "output": {"entities": {"gene": [{"text": "melanin-concentrating hormone receptor 1", "start": 26, "end": 66}], "disease": [{"text": "depression", "start": 111, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "melanin-concentrating hormone receptor 1", "start": 26, "end": 66}, "tail": {"text": "depression", "start": 111, "end": 121}}]}}, "schema": []}
{"input": "Among others, the RUNX1/ETO fusion protein, commonly found within acute myeloid leukemia cells carrying the translocation t (8; 21), is currently intensively studied at the functional and structural level as well as in animal models.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 18, "end": 23}], "disease": [{"text": "translocation", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.", "output": {"entities": {"gene": [{"text": "GABRG3", "start": 159, "end": 165}], "disease": [{"text": "IDIC-15", "start": 92, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRG3", "start": 159, "end": 165}, "tail": {"text": "IDIC-15", "start": 92, "end": 99}}]}}, "schema": []}
{"input": "Our results demonstrated that TSPY was expressed at low levels in normal epithelial cells and benign prostatic hyperplasia (BPH), but at elevated levels in tumor cells of prostate cancers at various degrees of malignancy.", "output": {"entities": {"gene": [{"text": "TSPY", "start": 30, "end": 34}], "disease": [{"text": "benign prostatic hyperplasia", "start": 94, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The observations indicate a previously unrecognized role for DIF-2 in ANCA-mediated inflammation, which raises the possibility that DIF-2 has an important role in other types of inflammation.", "output": {"entities": {"gene": [{"text": "DIF-2", "start": 61, "end": 66}], "disease": [{"text": "inflammation", "start": 84, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Six genes (RGS4, SCA1, GRM4, DPYSL2, NOS1, and GRID1) met this criterion for schizophrenia or schizoaffective disorder; five replicate previous associations, and one, GRID1, shows a novel association with schizophrenia.", "output": {"entities": {"gene": [{"text": "NOS1", "start": 37, "end": 41}], "disease": [{"text": "schizoaffective disorder", "start": 94, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "These findings collectively suggest that CypD is a promising target for a new drug for BD.", "output": {"entities": {"gene": [{"text": "CypD", "start": 41, "end": 45}], "disease": [{"text": "BD", "start": 87, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CypD", "start": 41, "end": 45}, "tail": {"text": "BD", "start": 87, "end": 89}}]}}, "schema": []}
{"input": "We found reduced heart rate and rate dependent functions of the rat heart, early release of free radicals triggering the release of cytotoxic inflammatory cytokines (like TNF-?", "output": {"entities": {"gene": [{"text": "TNF", "start": 171, "end": 174}], "disease": [{"text": "heart rate", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Our studies were promoted by our observation that NMI expressing breast cancer cells showed autophagic vacuoles and LC3 processing.", "output": {"entities": {"gene": [{"text": "LC3", "start": 116, "end": 119}], "disease": [{"text": "autophagic vacuoles", "start": 92, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Do RCAN1 proteins link chronic stress with neurodegeneration?", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 3, "end": 8}], "disease": [{"text": "neurodegeneration", "start": 43, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The increased protective capacity of the Tyr (402) Factor H variant allows better and more efficient clearance and removal of cellular debris and reduces inflammation and pathology.", "output": {"entities": {"gene": [{"text": "Factor H", "start": 51, "end": 59}], "disease": [{"text": "inflammation", "start": 154, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Mutations in C9ORF72, SOD1, TARDBP, and FUS genes account for approximately two-third of familial cases and 5% of sporadic amyotrophic lateral sclerosis (ALS) cases.", "output": {"entities": {"gene": [{"text": "FUS", "start": 40, "end": 43}], "disease": [{"text": "sporadic", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Our work reveals an important oncogenic cooperation between NK-1R and HER2, thereby adding a novel link between inflammation and cancer progression that may be targetable by SP antagonists that have been clinically explored.", "output": {"entities": {"gene": [{"text": "HER2", "start": 70, "end": 74}], "disease": [{"text": "inflammation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "First, with the Principle Component analysis, six proteins, CYP2E1, FAM25, CA3, BHMT, HIBADH and ECHS1, involved in oxidation reduction, energy and lipid metabolism and amino acid metabolism, were identified as the most differentially expressed gene products across all of the experimental conditions of our chronic alcoholism model.", "output": {"entities": {"gene": [{"text": "BHMT", "start": 80, "end": 84}], "disease": [{"text": "chronic alcoholism", "start": 308, "end": 326}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BHMT", "start": 80, "end": 84}, "tail": {"text": "chronic alcoholism", "start": 308, "end": 326}}]}}, "schema": []}
{"input": "Twenty-three patients with extrinsic allergic alveolitis due to an allergy to inhaled budgerigar serum protein (budgerigar fancier' s lung disease) were typed for HLA-A, B, C and HLA-DR antigens.", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 163, "end": 168}], "disease": [{"text": "extrinsic allergic alveolitis", "start": 27, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "SYN was significantly lower in DSAD compared with DS alone and similar to sporadic AD.", "output": {"entities": {"gene": [{"text": "SYN", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The carcinomas that most frequently exhibited strong mesothelin reactivity were nonmucinous carcinomas of the ovary (14 of 14 serous, 3 of 3 endometrioid, 6 of 8 clear cell, and 4 of 4 transitional cell carcinoma), and adenocarcinomas of the pancreas (12 of 14), the ampulla of Vater (3 of 3), endometrium (7 of 11), lung (14 of 34), and liver (7 of 19 cholangiocarcinomas).", "output": {"entities": {"gene": [{"text": "mesothelin", "start": 53, "end": 63}], "disease": [{"text": "cholangiocarcinomas", "start": 353, "end": 372}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mesothelin", "start": 53, "end": 63}, "tail": {"text": "cholangiocarcinomas", "start": 353, "end": 372}}]}}, "schema": []}
{"input": "We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46, XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries.", "output": {"entities": {"gene": [{"text": "CYP19", "start": 35, "end": 40}], "disease": [{"text": "sexual infantilism", "start": 182, "end": 200}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP19", "start": 35, "end": 40}, "tail": {"text": "sexual infantilism", "start": 182, "end": 200}}]}}, "schema": []}
{"input": "High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 97, "end": 108}], "disease": [{"text": "bone mineral density", "start": 5, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "We generated ApoE-/-Nlrp3-/-, ApoE-/-Asc-/-and ApoE-/-caspase-1-/-double-deficient mice, fed them a high-fat diet for 11 weeks and subsequently assessed atherosclerosis progression and plaque phenotype.", "output": {"entities": {"gene": [{"text": "caspase-1", "start": 54, "end": 63}], "disease": [{"text": "plaque", "start": 185, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "AML exhibiting the translocation t (8; 21), which fuses the AML1 and ETO genes, has such a characteristic expression profile.", "output": {"entities": {"gene": [{"text": "AML1", "start": 60, "end": 64}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Using these and other 19p13 translocation breakpoints as landmarks, we established a partial physical map of 19p: 19pter-E2A-INSR-LYL1-[t (4; 19)]-19cen.", "output": {"entities": {"gene": [{"text": "INSR", "start": 125, "end": 129}], "disease": [{"text": "translocation", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Targeted deletion of the IRAG-InsP3RI interaction in IRAGDelta12/Delta12 mutant mice leads to a loss of NO/cGMP-dependent inhibition of fibrinogen-receptor activation and platelet aggregation.", "output": {"entities": {"gene": [{"text": "IRAG", "start": 25, "end": 29}], "disease": [{"text": "fibrinogen", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The results of the present study suggest that the Trp64Arg mutation of the beta (3) AR gene is associated with difficulty in losing weight through behavioral intervention, although it is not related to obesity-related phenotypes and resting energy expenditure before the intervention.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 84, "end": 91}], "disease": [{"text": "weight", "start": 132, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Using a human-scid model of IBC (MARY-X), we have demonstrated using retrovirally-mediated dominant-negative E-cadherin mutant approaches (H-2K (d)-E-cad), that the tumor cell embolus (IBC spheroid) forms on the basis of an intact and overexpressed E-cadherin/alpha, beta-catenin axis which mediates tumor cell-tumor cell adhesion analogous to the embryonic blastocyst and accounts for the compactness of the embolus.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 267, "end": 279}], "disease": [{"text": "cad", "start": 111, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "TRPC6, TRPM6, and TRPP2 have been implicated in hereditary focal segmental glomerulosclerosis (FSGS), hypomagnesemia with secondary hypocalcemia (HSH), and polycystic kidney disease (PKD), respectively.", "output": {"entities": {"gene": [{"text": "TRPM6", "start": 7, "end": 12}], "disease": [{"text": "polycystic kidney disease", "start": 156, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Polycomb-group proteins Bmi1 and EZH2 are involved in the malignant transformation and biological aggressiveness of several human carcinomas.", "output": {"entities": {"gene": [{"text": "Bmi1", "start": 24, "end": 28}], "disease": [{"text": "aggressiveness", "start": 98, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical expression of MCT1, MCT4, CD147, GLUT1 and CAIX was assessed in a series of 28 chronic cervicitis, 34 LSIL, 29 HSIL, 38 cases of squamous cells carcinoma (SCC), as well as in in vitro 3D culture of keratinocytes expressing HPV genes.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 53, "end": 58}], "disease": [{"text": "chronic cervicitis", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "To establish a functional link between SCAI and tumorigenesis we performed affinity columns to identify SCAI-interacting proteins.", "output": {"entities": {"gene": [{"text": "SCAI", "start": 39, "end": 43}], "disease": [{"text": "tumorigenesis", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "To this aim, we analyzed transcriptomic data from rhabdomyosarcoma samples and found that P-cadherin expression is correlated with PAX3/7-FOXO1A presence.", "output": {"entities": {"gene": [{"text": "P-cadherin", "start": 90, "end": 100}], "disease": [{"text": "rhabdomyosarcoma", "start": 50, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The expression of retinoic acid receptor beta2 (RAR-beta2) is frequently lost in various cancers and their premalignant lesions.", "output": {"entities": {"gene": [{"text": "RAR", "start": 48, "end": 51}], "disease": [{"text": "premalignant", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Tumor cells are reactive for CD34 and characterized by a t (17; 22) translocation or a supernumerary ring chromosome that results in the fusion of exon 2 of PDGFB to various exons of the COL1A1 gene.", "output": {"entities": {"gene": [{"text": "COL1A1 gene", "start": 187, "end": 198}], "disease": [{"text": "translocation", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the splicing events regulated by the SRPK1-RMB4 network may contribute to tumorigenesis through altered sensitivity to apoptotic signals in breast cancer cells.", "output": {"entities": {"gene": [{"text": "SRPK1", "start": 65, "end": 70}], "disease": [{"text": "tumorigenesis", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The authors screened two index patients diagnosed with fundus albipunctatus for mutations in exons 2 to 5 and exon/intron boundaries of the 11-cis retinol dehydrogenase gene by direct sequencing.", "output": {"entities": {"gene": [{"text": "11-cis retinol dehydrogenase", "start": 140, "end": 168}], "disease": [{"text": "fundus albipunctatus", "start": 55, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "11-cis retinol dehydrogenase", "start": 140, "end": 168}, "tail": {"text": "fundus albipunctatus", "start": 55, "end": 75}}]}}, "schema": []}
{"input": "Studies in humans have investigated the possibility that mutations in the INSL3 gene are the cause of cryptorchidism.", "output": {"entities": {"gene": [{"text": "INSL3", "start": 74, "end": 79}], "disease": [{"text": "cryptorchidism", "start": 102, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "INSL3", "start": 74, "end": 79}, "tail": {"text": "cryptorchidism", "start": 102, "end": 116}}]}}, "schema": []}
{"input": "In seven families with complete AIS, single base mutations were found in the region of the AR gene encoding the steroid-binding domain of the receptor.", "output": {"entities": {"gene": [{"text": "AR", "start": 91, "end": 93}], "disease": [{"text": "AIS", "start": 32, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AR", "start": 91, "end": 93}, "tail": {"text": "AIS", "start": 32, "end": 35}}]}}, "schema": []}
{"input": "The contribution of cigarette smoking to sporadic colorectal cancer may differ according to molecular aspects of the tumor or according to glutathione S-transferase M1 (GSTM1) or glutathione S-transferase T1 (GSTT1) genotype.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 169, "end": 174}], "disease": [{"text": "sporadic", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Thus, paracrine signaling by the BDNF/TrkB system is important for human cytotrophoblast differentiation, proliferation, and survival, and inhibition of BDNF/TrkB signaling in cytotrophoblasts could provide a novel medical treatment for ectopic pregnancy.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 33, "end": 37}], "disease": [{"text": "ectopic pregnancy", "start": 237, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "IRIDA is characterized by hypochromic microcytic anemia unresponsive to oral iron treatment, low transferrin saturation, and a high level of iron-regulated hormone hepcidin.", "output": {"entities": {"gene": [{"text": "hepcidin", "start": 164, "end": 172}], "disease": [{"text": "hypochromic microcytic anemia", "start": 26, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Factors affecting sensitivity and specificity of screening mammography and MRI in women with an inherited risk for breast cancer.", "output": {"entities": {"gene": [{"text": "MRI", "start": 75, "end": 78}], "disease": [{"text": "breast cancer", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the plaque area of the aortic sinus and the concentrations of total cholesterol (TC), triglyceride (TG), and low density lipoprotein cholesterol (LDL-C) were also decreased in the atherosclerotic mice by CRY1 overexpression.", "output": {"entities": {"gene": [{"text": "CRY1", "start": 217, "end": 221}], "disease": [{"text": "plaque", "start": 17, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "To gain further insights into the mechanisms of IK1 involvement in cardiac excitability, we studied the susceptibility of transgenic mice with altered IK1 to arrhythmia during various pharmacological and physiological challenges.", "output": {"entities": {"gene": [{"text": "IK1", "start": 48, "end": 51}], "disease": [{"text": "arrhythmia", "start": 158, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Our results show a widespread dependence of AML cells on autocrine activation of MET, as well as the key role of compensatory upregulation of HGF expression in maintaining leukemogenic signaling by this receptor.", "output": {"entities": {"gene": [{"text": "MET", "start": 81, "end": 84}], "disease": [{"text": "AML", "start": 44, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MET", "start": 81, "end": 84}, "tail": {"text": "AML", "start": 44, "end": 47}}]}}, "schema": []}
{"input": "Interleukin-2 enhances scopolamine-induced amnesia and hyperactivity in the mouse.", "output": {"entities": {"gene": [{"text": "Interleukin-2", "start": 0, "end": 13}], "disease": [{"text": "amnesia", "start": 43, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Interleukin-2", "start": 0, "end": 13}, "tail": {"text": "amnesia", "start": 43, "end": 50}}]}}, "schema": []}
{"input": "Tiparp ADP-ribosylated AHR but not its dimerization partner, the AHR nuclear translocator, and the repressive effects of TIPARP on AHR were reversed by the macrodomain containing mono-ADP-ribosylase MACROD1 but not MACROD2.", "output": {"entities": {"gene": [{"text": "TIPARP", "start": 121, "end": 127}], "disease": [{"text": "mono", "start": 179, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "The authors assessed the impact of APOE genotype on hippocampal, amygdalar, and global brain atrophy as putative markers of preclinical AD in a nondemented population.", "output": {"entities": {"gene": [{"text": "APOE", "start": 35, "end": 39}], "disease": [{"text": "global brain atrophy", "start": 80, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The present study aimed to evaluate whether peripheral POMC expression ameliorated capsaicin-induced acute neurogenic inflammation in rat trachea.", "output": {"entities": {"gene": [{"text": "POMC", "start": 55, "end": 59}], "disease": [{"text": "neurogenic inflammation", "start": 107, "end": 130}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "POMC", "start": 55, "end": 59}, "tail": {"text": "neurogenic inflammation", "start": 107, "end": 130}}]}}, "schema": []}
{"input": "We further show that 5-aza-2'-deoxycytidine induced reexpression of AP-2alpha in MDA-MB-231 breast cancer cells (wherein AP-2alpha expression is silenced by hypermethylation), resulted in massive apoptosis induction, increased chemosensitivity, decreased colony formation, and loss of tumorigenesis upon chemotherapy.", "output": {"entities": {"gene": [{"text": "AP-2alpha", "start": 68, "end": 77}], "disease": [{"text": "breast cancer", "start": 92, "end": 105}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AP-2alpha", "start": 68, "end": 77}, "tail": {"text": "breast cancer", "start": 92, "end": 105}}]}}, "schema": []}
{"input": "The protein expression of eight cancer-testis antigens [MAGEA, NY-ESO-1, GAGE, MAGEC1 (CT7), MAGEC2 (CT10), CT45, SAGE1, and NXF2] was evaluated by immunohistochemistry in 61 esophageal carcinomas (40 adenocarcinoma and 21 squamous cell carcinoma), 50 gastric carcinomas (34 diffuse and 16 intestinal type), and 141 colorectal carcinomas.", "output": {"entities": {"gene": [{"text": "NXF2", "start": 125, "end": 129}], "disease": [{"text": "esophageal", "start": 175, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking the alpha3 subunit and mice lacking both the beta2 and beta4 subunits, but not mice lacking the beta2 or beta4 subunits alone, have a severe phenotype characterized by megacystis, failure of bladder strips to contract in response to nicotine, widely dilated ocular pupils, growth failure, and perinatal mortality.", "output": {"entities": {"gene": [{"text": "beta4", "start": 68, "end": 73}], "disease": [{"text": "megacystis", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).", "output": {"entities": {"gene": [{"text": "alpha-sarcoglycan", "start": 42, "end": 59}], "disease": [{"text": "LGMD2D", "start": 108, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-sarcoglycan", "start": 42, "end": 59}, "tail": {"text": "LGMD2D", "start": 108, "end": 114}}]}}, "schema": []}
{"input": "Brivanib was also tested second line aiming to block adaptive resistance to selective VEGF therapies, assessing tumor growth, vascularity, hypoxia, invasion, and metastasis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 86, "end": 90}], "disease": [{"text": "hypoxia", "start": 139, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, among 2422 genes that correlated with the degree of necrosis in GBMs, transcription factors known to drive the mesenchymal expression class were most closely related, including C/EBP-β, C/EBP-δ, STAT3, FOSL2, bHLHE40, and RUNX1.", "output": {"entities": {"gene": [{"text": "C/EBP-δ", "start": 199, "end": 206}], "disease": [{"text": "necrosis", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of CYP26A1 in adenomatous polyposis coli-deficient vertebrates via a WNT-dependent mechanism: implications for intestinal cell differentiation and colon tumor development.", "output": {"entities": {"gene": [{"text": "CYP26A1", "start": 17, "end": 24}], "disease": [{"text": "colon tumor", "start": 161, "end": 172}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP26A1", "start": 17, "end": 24}, "tail": {"text": "colon tumor", "start": 161, "end": 172}}]}}, "schema": []}
{"input": "HIF appears to play a particular role for the kidney, where renal EPO production, organ preservation from ischemia-reperfusion injury and renal tumorigenesis are prominent examples.", "output": {"entities": {"gene": [{"text": "EPO", "start": 66, "end": 69}], "disease": [{"text": "tumorigenesis", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the hypothesis that FGFRL1 gene expression in the diaphragm is downregulated during the later gestational stages in the nitrofen CDH model.", "output": {"entities": {"gene": [{"text": "FGFRL1", "start": 61, "end": 67}], "disease": [{"text": "CDH", "start": 170, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFRL1", "start": 61, "end": 67}, "tail": {"text": "CDH", "start": 170, "end": 173}}]}}, "schema": []}
{"input": "Our study is involved in the global analysis of serum miRNAs during the normal-colorectal adenoma (CA)-CAC sequence.", "output": {"entities": {"gene": [{"text": "CAC", "start": 103, "end": 106}], "disease": [{"text": "colorectal adenoma", "start": 79, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "High DNMT1 and DNMT3b expression was found in 105/127 (83%) and 79/127 (62%) carcinomas, respectively.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 5, "end": 10}], "disease": [{"text": "carcinomas", "start": 77, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNMT1", "start": 5, "end": 10}, "tail": {"text": "carcinomas", "start": 77, "end": 87}}]}}, "schema": []}
{"input": "Populations of CD68 positive macrophage-like cells within the granulomas produce mRNA for TNF-alpha, IFN-gamma, and IL-4.", "output": {"entities": {"gene": [{"text": "IFN", "start": 101, "end": 104}], "disease": [{"text": "granulomas", "start": 62, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "This study examined associations between child catechol-O-methyltransferase genotype and aspects of positive parenting (responsiveness and warmth), and whether these associations were moderated by parental personality traits (neuroticism and extraversion) among a general community sample of third, sixth, and ninth graders (N = 263) and their parents.", "output": {"entities": {"gene": [{"text": "catechol-O-methyltransferase", "start": 47, "end": 75}], "disease": [{"text": "personality traits", "start": 206, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "We also observed that tumors presenting the higher expression levels of HJURP are associated with poor survival prognosis, indicating HJURP overexpression as an independent prognostic factor of death risk for astrocytoma patients.", "output": {"entities": {"gene": [{"text": "HJURP", "start": 72, "end": 77}], "disease": [{"text": "astrocytoma", "start": 209, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "The pathogenesis of BM abnormalities was studied in wild-type (WT), TNFα (-/-), Toll-like receptor-deficient (TLR-7 (-/-)), interferon (IFN)-α/β/ω receptor-knockout (IFNAR (-/-)), and B cell-deficient (μmt) mice treated with pristane.", "output": {"entities": {"gene": [{"text": "IFNAR", "start": 166, "end": 171}], "disease": [{"text": "abnormalities", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "To test whether perturbations of DSG2 or DSC2 exhibit a pathogenic impact on DCM pathogenesis, we sequenced both genes in 73 patients with FDCM and assessed prevalence of missense variations in matched control cohorts.", "output": {"entities": {"gene": [{"text": "DSG2", "start": 33, "end": 37}], "disease": [{"text": "FDCM", "start": 139, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DSG2", "start": 33, "end": 37}, "tail": {"text": "FDCM", "start": 139, "end": 143}}]}}, "schema": []}
{"input": "Long-term persistence of ex vivo-expanded tumor-specific CD8 + T effector clones has been reported in refractory metastatic melanoma patients after adoptive T-cell transfer.", "output": {"entities": {"gene": [{"text": "CD8", "start": 57, "end": 60}], "disease": [{"text": "metastatic melanoma", "start": 113, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Pathway-selective ligands for the estrogen receptor (ER) inhibit NF-kappaB-mediated inflammatory gene expression causing a reduction of cytokines, chemokines, adhesion molecules, and inflammatory enzymes.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 34, "end": 51}], "disease": [{"text": "adhesion", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Culture in vitro for 24 h under hypoxic conditions resulted in a 2-to 6-fold increase in VEGF secretion by both stromal and epithelial cells isolated from human endometrium.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 89, "end": 93}], "disease": [{"text": "hypoxic", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Intraventricular administration of FSH, ACTH or prolactin caused hyperthermia, increased metabolism and/or cutaneous vasoconstriction.", "output": {"entities": {"gene": [{"text": "prolactin", "start": 48, "end": 57}], "disease": [{"text": "hyperthermia", "start": 65, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prolactin", "start": 48, "end": 57}, "tail": {"text": "hyperthermia", "start": 65, "end": 77}}]}}, "schema": []}
{"input": "The results suggest that the autocrine and paracrine functions of Epo might play a role in malignant transformation of melanocytes and in the survival of melanoma cells in hypoxia and other adverse conditions.", "output": {"entities": {"gene": [{"text": "Epo", "start": 66, "end": 69}], "disease": [{"text": "melanoma", "start": 154, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Epo", "start": 66, "end": 69}, "tail": {"text": "melanoma", "start": 154, "end": 162}}]}}, "schema": []}
{"input": "We showed that expression of BCR-ABL1 correlates with decreased level of BRCA1 protein, which promoted aberrant mitoses and aneuploidy as well as altered DNA damage response.", "output": {"entities": {"gene": [{"text": "ABL1", "start": 33, "end": 37}], "disease": [{"text": "aneuploidy", "start": 124, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We now demonstrate a previously unrecognized role for the gap junction protein connexin43 (Cx43) in the regulation of phagocytosis by macrophages and in the host response to bacterial infection of the peritoneal cavity.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 91, "end": 95}], "disease": [{"text": "bacterial infection", "start": 174, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.", "output": {"entities": {"gene": [{"text": "MT1-MMP", "start": 47, "end": 54}], "disease": [{"text": "Winchester syndrome", "start": 113, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MT1-MMP", "start": 47, "end": 54}, "tail": {"text": "Winchester syndrome", "start": 113, "end": 132}}]}}, "schema": []}
{"input": "A synthetic TLR4 antagonist, TLR4A, significantly reduced fusobacterial-induced fetal death and decidual necrosis without affecting the bacterial colonization in the placentas.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 12, "end": 16}], "disease": [{"text": "necrosis", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The mucosal levels of PGE (2) and COX-2 mRNA expression were significantly lower in the ulcer patients than those in the nonulcer patients, whereas the LTB (4) level was significantly higher in the ulcer patients than that in the nonulcer patients, and it was also significantly lower in the ulcerated mucosa than that in the nonulcerated mucosa.", "output": {"entities": {"gene": [{"text": "LTB", "start": 152, "end": 155}], "disease": [{"text": "ulcer", "start": 88, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We observed that mice treated with Orlistat 48 hr after the inoculation of B16-F10 cells exhibited a 52% reduction in the number of mediastinal lymph node metastases, in comparison with the control animals.", "output": {"entities": {"gene": [{"text": "F10", "start": 79, "end": 82}], "disease": [{"text": "lymph node metastases", "start": 144, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We identified a significant risk region for alcohol and nicotine codependence between IPO11 and HTR1A on chromosome 5q that was reported to be suggestively associated with alcohol dependence previously.", "output": {"entities": {"gene": [{"text": "IPO11", "start": 86, "end": 91}], "disease": [{"text": "alcohol dependence", "start": 172, "end": 190}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IPO11", "start": 86, "end": 91}, "tail": {"text": "alcohol dependence", "start": 172, "end": 190}}]}}, "schema": []}
{"input": "Homozygous null mutations in ABCA4 produced a severe widespread retinal degeneration that showed marked central retinal involvement.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 29, "end": 34}], "disease": [{"text": "retinal degeneration", "start": 64, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The location of SAH relative to necrosis and bacterial colonies was determined by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "SAH", "start": 16, "end": 19}], "disease": [{"text": "necrosis", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Transfection of siRNA-targeting SEMA3B and SEMA3F in endometrial cancer cells attenuated P4 or 1, 25 (OH) (2) D (3)-induced growth inhibition.", "output": {"entities": {"gene": [{"text": "SEMA3B", "start": 32, "end": 38}], "disease": [{"text": "endometrial cancer", "start": 53, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEMA3B", "start": 32, "end": 38}, "tail": {"text": "endometrial cancer", "start": 53, "end": 71}}]}}, "schema": []}
{"input": "Pharmacological inhibition of Akt, but not the Akt substrate mTOR, inhibited hypoxia-and TGFβ-induced pulmonary vascular rarefaction and fibrosis.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 89, "end": 93}], "disease": [{"text": "hypoxia", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We found that both clarithromycin and dexamethasone up-regulated the production of anti-inflammatory mediators (Clara cell 10-kDa protein and interleukin (IL)-10), whereas down-regulated the production of Th2 response and eosinophilia promoting molecules (thymic stromal lymphopoietin, IL-25, IL-33, CD80, CD86, OX40 ligand, programmed cell death ligand 1, CCL17, CCL22, CCL11, CCL5, IL-5, IL-13, and eosinophilic cationic protein) and Th1 response and neutrophilia promoting molecules (CXCL8, CXCL5, CXCL10, CXCL9, interferon-γ, and IL-12), from sinonasal mucosa from distinct phenotypic CRS.", "output": {"entities": {"gene": [{"text": "CCL17", "start": 357, "end": 362}], "disease": [{"text": "neutrophilia", "start": 453, "end": 465}]}, "relations": {}}, "schema": []}
{"input": "A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.", "output": {"entities": {"gene": [{"text": "LRP5", "start": 110, "end": 114}], "disease": [{"text": "osteoporosis pseudoglioma syndrome", "start": 14, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRP5", "start": 110, "end": 114}, "tail": {"text": "osteoporosis pseudoglioma syndrome", "start": 14, "end": 48}}]}}, "schema": []}
{"input": "These results identify G-richness as one feature of genomic structure that can contribute to genomic instability in AID-positive B-cell malignancies.", "output": {"entities": {"gene": [{"text": "AID", "start": 116, "end": 119}], "disease": [{"text": "genomic instability", "start": 93, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "To assess the potential role of SOX2 in melanoma growth, an in vivo tumorigenesis assay was used.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 32, "end": 36}], "disease": [{"text": "tumorigenesis", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Thus, the administration of FGF2 in combination with BMT synergistically improves CCl (4)-induced liver fibrosis in mice.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 28, "end": 32}], "disease": [{"text": "liver fibrosis", "start": 98, "end": 112}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FGF2", "start": 28, "end": 32}, "tail": {"text": "liver fibrosis", "start": 98, "end": 112}}]}}, "schema": []}
{"input": "The decreased activity of GAD65 and increased levels of glutamate may have a causative role in astrocytic hypertrophy evident in cln3-knockout mice, and in altered expression of genes involved in the synthesis and utilization of glutamate that underlie a shift from synthesis to utilization of glutamate.", "output": {"entities": {"gene": [{"text": "GAD65", "start": 26, "end": 31}], "disease": [{"text": "hypertrophy", "start": 106, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "To determine the role of signaling through p38 MAPK in nucleus pulposus cell' s response to inflammatory cytokines and whether it might be a valid target for the development of molecular therapies for disc degeneration.", "output": {"entities": {"gene": [{"text": "cell' s", "start": 72, "end": 79}], "disease": [{"text": "disc degeneration", "start": 201, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Compensatory hypersecretion suggests that the small pancreas of HNF1B mutation carriers is attributable to hypoplasia, not atrophy.", "output": {"entities": {"gene": [{"text": "HNF1B", "start": 64, "end": 69}], "disease": [{"text": "atrophy", "start": 123, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "It presents with frequent DNA microsatellite instability (MSI), but the frequency of low-level (MSI-L) and high-level MSI (MSI-H) and the expression of mismatch-repair (MMR) enzymes in serrated adenocarcinoma are not known.", "output": {"entities": {"gene": [{"text": "MMR", "start": 169, "end": 172}], "disease": [{"text": "microsatellite instability", "start": 30, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "While studying renal phenotypes of children with HNF1B mutations, we identified a teenager who presented with tetany and hypomagnesemia.", "output": {"entities": {"gene": [{"text": "HNF1B", "start": 49, "end": 54}], "disease": [{"text": "tetany", "start": 110, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the variant DRD2 genotypes are associated with a greater likelihood to smoke and a greater smoking intensity, as well as with a familial aggregation of smoking-related cancers.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 40, "end": 44}], "disease": [{"text": "smoking", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We examined the influence of functional genetic variants in DAT1 on cocaine addiction.", "output": {"entities": {"gene": [{"text": "DAT1", "start": 60, "end": 64}], "disease": [{"text": "cocaine addiction", "start": 68, "end": 85}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "DAT1", "start": 60, "end": 64}, "tail": {"text": "cocaine addiction", "start": 68, "end": 85}}]}}, "schema": []}
{"input": "We genotyped two polymorphisms, CYP1A1 * 2A and CYP1A1 * 2C, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a hospital-based case-control study including 192 infertile patients with non-obstructive azoospermia or severe oligozoospermia and 226 fertile controls.", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 32, "end": 38}], "disease": [{"text": "infertile", "start": 204, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Therefore, treatment with HDAC-inhibitors might be an option for patients with advanced renal cell carcinoma and acquired everolimus resistance.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 26, "end": 30}], "disease": [{"text": "advanced renal cell carcinoma", "start": 79, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t (7; 21) in myelodysplastic syndrome and acute myeloid leukaemia.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 56, "end": 61}], "disease": [{"text": "translocation", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Common genetic variation in IGF1 is strongly associated with percentage mammographic density.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 28, "end": 32}], "disease": [{"text": "mammographic density", "start": 72, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "This cell line revealed no microsatellite instability (MSI), which points to the expression of a functional MLH1 protein and an active mismatch repair (MMR) system.", "output": {"entities": {"gene": [{"text": "MMR", "start": 152, "end": 155}], "disease": [{"text": "microsatellite instability", "start": 27, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.", "output": {"entities": {"gene": [{"text": "keratin 5", "start": 61, "end": 70}], "disease": [{"text": "epidermolysis bullosa simplex with migratory circinate erythema", "start": 94, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 5", "start": 61, "end": 70}, "tail": {"text": "epidermolysis bullosa simplex with migratory circinate erythema", "start": 94, "end": 157}}]}}, "schema": []}
{"input": "Elevated beta2-adrenoceptor protein concentration in adipose tissue from obese subjects is closely related to the body mass index and waist/hip ratio.", "output": {"entities": {"gene": [{"text": "beta2", "start": 9, "end": 14}], "disease": [{"text": "body mass index", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "FGF17", "start": 148, "end": 153}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF17", "start": 148, "end": 153}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "UCHL1 is expressed in all normal tissues and immortalized normal epithelial cell lines, but was low or silenced in 77% (10/13) of HCC cell lines, which is well correlated with its promoter methylation status.", "output": {"entities": {"gene": [{"text": "UCHL1", "start": 0, "end": 5}], "disease": [{"text": "HCC", "start": 130, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "UCHL1", "start": 0, "end": 5}, "tail": {"text": "HCC", "start": 130, "end": 133}}]}}, "schema": []}
{"input": "In contrast, BACE1 expression by reactive astrocytes was evident in chronic but not in acute models of gliosis.", "output": {"entities": {"gene": [{"text": "BACE1", "start": 13, "end": 18}], "disease": [{"text": "gliosis", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In Hep3B cells, hypoxic stimuli upregulated VEGF and EPO, but not Ang-1 or Ang-2.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 44, "end": 48}], "disease": [{"text": "hypoxic", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We conclude from these results that hypoxic regimens that promote PH pathogenesis and HPASMC proliferation reduce PPARγ expression and activity through ERK1/2-, p65-, and Nox4-dependent pathways.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 114, "end": 119}], "disease": [{"text": "hypoxic", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We investigated the inhibitory effect of felodipine on adhesion molecular expression and macrophage infiltration in the aorta of high fructose-fed rats (FFR).", "output": {"entities": {"gene": [{"text": "FFR", "start": 153, "end": 156}], "disease": [{"text": "adhesion", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in a model of neointima formation invoked by carotid artery endothelial denudation, ApoER2 (-/-) mice display exaggerated neointima development.", "output": {"entities": {"gene": [{"text": "ApoER2", "start": 94, "end": 100}], "disease": [{"text": "neointima", "start": 24, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "miR-155 (-/-) mice were protected with significantly lower (4-fold) bacterial burden and no differences in viral load, associated with robust induction of IL-23 and IL-17 (2. 2-and 4. 8-fold, respectively) postsequential challenge with virus and bacteria, compared with WT mice.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 165, "end": 170}], "disease": [{"text": "viral load", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Our results add to a growing body of evidence suggesting that duplications of 17 (p11. 2p11. 2) result in language delay as well as autism and related phenotypes.", "output": {"entities": {"gene": [{"text": "p11", "start": 82, "end": 85}], "disease": [{"text": "autism", "start": 132, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We identified CDC91L1, the gene encoding CDC91L1 (also called phosphatidylinositol glycan class U (PIG-U), a transamidase complex unit in the glycosylphosphatidylinositol (GPI) anchoring pathway), as the only gene whose expression was affected by the translocation.", "output": {"entities": {"gene": [{"text": "CDC91L1", "start": 14, "end": 21}], "disease": [{"text": "translocation", "start": 251, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that inhibition of AMPK resulting from a hypomorphic mutation that decreases LKB1 expression does not lead to tumorigenesis on its own, but markedly accelerates tumour development in PTEN (+/-) mice.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 92, "end": 96}], "disease": [{"text": "tumorigenesis", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the expression of ADAR1 and ADAR2 was analyzed in chordoma tissues.", "output": {"entities": {"gene": [{"text": "ADAR2", "start": 39, "end": 44}], "disease": [{"text": "chordoma", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We investigated the localization of pituitary homeo box 1 (Ptx1) protein in five human non-neoplastic pituitaries and 73 of all types of pituitary adenomas using immunohistochemistry, and the expression of Ptx1 messenger RNA (mRNA) in 18 representative pituitary adenomas using the reverse transcriptase polymerase chain reaction (RT-PCR) technique.", "output": {"entities": {"gene": [{"text": "Ptx1", "start": 59, "end": 63}], "disease": [{"text": "non-neoplastic", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Here we report that the mitochondrial chaperone Hsp40, also known as Dnaja3 or Tid1, is differentially expressed during cardiac development and pathological hypertrophy.", "output": {"entities": {"gene": [{"text": "Tid1", "start": 79, "end": 83}], "disease": [{"text": "hypertrophy", "start": 157, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Genetic ablation of one allele of Crb2 in heterozygote Crb1 (+/-) retinas induced a mild retinal phenotype, but in homozygote Crb1 knockout mice lead to an early and severe phenotype limited to the entire inferior retina.", "output": {"entities": {"gene": [{"text": "Crb1", "start": 55, "end": 59}], "disease": [{"text": "mild", "start": 84, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Nonneuropathic amyloidoses (Ostertag type amyloidosis) include those due to abnormalities in lysozyme, fibrinogen Aalpha-chain, and apolipoprotein A-I and A-II.", "output": {"entities": {"gene": [{"text": "lysozyme", "start": 93, "end": 101}], "disease": [{"text": "Ostertag type amyloidosis", "start": 28, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "lysozyme", "start": 93, "end": 101}, "tail": {"text": "Ostertag type amyloidosis", "start": 28, "end": 53}}]}}, "schema": []}
{"input": "This study agrees with our previous results performed on acute alcohol intoxication and supports the hypothesis that HSP70 induction protects the different brain areas against oxidative stress.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 117, "end": 122}], "disease": [{"text": "acute alcohol intoxication", "start": 57, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSP70", "start": 117, "end": 122}, "tail": {"text": "acute alcohol intoxication", "start": 57, "end": 83}}]}}, "schema": []}
{"input": "The results indicate that TGF-beta induces a decrease of the basal level of fibrinogen and factor VII mRNAs, but does not affect factor X expression.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 26, "end": 34}], "disease": [{"text": "fibrinogen", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Critical limb ischemia induces the inflammatory reaction triggering the increase in IL-6 and of acute phase protein production.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 84, "end": 88}], "disease": [{"text": "ischemia", "start": 14, "end": 22}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 84, "end": 88}, "tail": {"text": "ischemia", "start": 14, "end": 22}}]}}, "schema": []}
{"input": "While the etiology of the syndrome is currently unknown, abnormalities of CD43 have been described as a biochemical marker of the disease.", "output": {"entities": {"gene": [{"text": "CD43", "start": 74, "end": 78}], "disease": [{"text": "abnormalities", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We also identified histone demethylase Kdm5b as a novel secondary node in NRL transcriptional hierarchy.", "output": {"entities": {"gene": [{"text": "NRL", "start": 74, "end": 77}], "disease": [{"text": "secondary", "start": 56, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Genomic aberrations affecting the genes encoding factor H (FH) and the five FH-related proteins (FHRs) have been described in patients with atypical hemolytic uremic syndrome (aHUS), a rare condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and ARF.", "output": {"entities": {"gene": [{"text": "ARF", "start": 274, "end": 277}], "disease": [{"text": "atypical hemolytic uremic syndrome", "start": 140, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "DNA sequencing analysis of CRYAA, CRYBB2, CRYGA-D, GJA3, GJA8, and PAX6 of the affected members of a family (C-35) showed a novel heterozygous missense mutation C > A at position 229 in CRYGD in three affected members of family C-35 with anterior polar coronary cataract.", "output": {"entities": {"gene": [{"text": "GJA8", "start": 57, "end": 61}], "disease": [{"text": "coronary cataract", "start": 253, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "The ShcA adaptor activates AKT signaling to potentiate breast tumor angiogenesis by stimulating VEGF mRNA translation in a 4E-BP-dependent manner.", "output": {"entities": {"gene": [{"text": "ShcA", "start": 4, "end": 8}], "disease": [{"text": "tumor angiogenesis", "start": 62, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "MYCN copy number and 1p36 deletion status were determined by fluorescence in situ hybridization (FISH) and real time PCR in a diagnostic pathology laboratory setting on 35 consecutive patients with neuroblastoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 97, "end": 101}], "disease": [{"text": "neuroblastoma", "start": 198, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Expression of apoptosis-related proteins, bcl-2, Bax, Fas and Fas ligand (L), in ovarian epithelial neoplasms together with its clinical relevance was examined by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 62, "end": 72}], "disease": [{"text": "epithelial neoplasms", "start": 89, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results support a role for mutations and rare deleterious variants in NODAL as a cause for sporadic human LR patterning defects.", "output": {"entities": {"gene": [{"text": "NODAL", "start": 92, "end": 97}], "disease": [{"text": "sporadic", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of Hsp27, Hsp90 and HspBP1 appears just in case of long-term deteriorated conditions (usually in mild preeclampsia, that enable further continuation of gestation, when properly treated).", "output": {"entities": {"gene": [{"text": "Hsp27", "start": 16, "end": 21}], "disease": [{"text": "preeclampsia", "start": 115, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Next, we overexpressed CCL2 in the U87 glioma line, which has low basal level of CCL2, to investigate the hypothesis that glioma-secreted CCL2 interacts with microglia to affect glioma growth.", "output": {"entities": {"gene": [{"text": "U87", "start": 35, "end": 38}], "disease": [{"text": "glioma", "start": 39, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We conclude that CT-1 is a master regulator of fat and glucose metabolism with potential applications for treatment of obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "CT-1", "start": 17, "end": 21}], "disease": [{"text": "obesity", "start": 119, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CT-1", "start": 17, "end": 21}, "tail": {"text": "obesity", "start": 119, "end": 126}}]}}, "schema": []}
{"input": "We investigated five cases of cardiac myxoma and one case of cardiac undifferentiated sarcoma by light and electron microscopy, in situ hybridization, immunohistochemical staining, and reverse transcriptase-polymerase chain reaction for cardiomyocyte-specific transcription factors, Nkx2. 5/Csx, GATA-4, MEF2, and eHAND.", "output": {"entities": {"gene": [{"text": "eHAND", "start": 314, "end": 319}], "disease": [{"text": "undifferentiated sarcoma", "start": 69, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In a recent report that we have made, based on open-ended lncRNA pulldown technology and a series of systematic analyses, we suggest that lncRNAs also play critical roles in the regulation of noncanonical Hedgehog/GLI 2 signal transduction pathways in cancer cells, which further broadens the scope of known lncRNA functions and aids in the discovery and design of more effective and evidence-based therapeutic targets for the treatment of human cancers and other diseases.", "output": {"entities": {"gene": [{"text": "GLI", "start": 214, "end": 217}], "disease": [{"text": "aids", "start": 329, "end": 333}]}, "relations": {}}, "schema": []}
{"input": "According to our results, the BRCA gene mutation status (mainly BRCA1) would contribute to the genomic profile of abnormalities by increasing or modulating the genome instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 64, "end": 69}], "disease": [{"text": "genome instability", "start": 160, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "However, we have previously demonstrated that induction of VEGF by hypoxia was preserved when HIF-1alpha was silenced.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 59, "end": 63}], "disease": [{"text": "hypoxia", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Without Wnt stimulation, β-catenin forms a complex with axin (axis inhibitor), adenomatous polyposis coli (APC), casein kinase 1α (CK1α), and glycogen synthase kinase 3β (GSK3β) and undergoes phosphorylation-dependent ubiquitination.", "output": {"entities": {"gene": [{"text": "CK1α", "start": 131, "end": 135}], "disease": [{"text": "adenomatous polyposis coli", "start": 79, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "This suggests a novel role for CITED2 in human adrenal growth and possibly in adrenal tumorigenesis.", "output": {"entities": {"gene": [{"text": "CITED2", "start": 31, "end": 37}], "disease": [{"text": "tumorigenesis", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that epigenetic inactivation of SOCS-1 may be a complementary mechanism to the JAK2V617F mutation in the pathogenesis of MPD that leads to dysregulation of JAK-STAT signal transduction and thus contributes to growth factor hypersensitivity.", "output": {"entities": {"gene": [{"text": "SOCS-1", "start": 52, "end": 58}], "disease": [{"text": "hypersensitivity", "start": 243, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "In addition, CETP expression did not normalize other characteristics of SR-BI deficiency, including female infertility, reticulocytosis, thrombocytopenia, and impaired platelet aggregation.", "output": {"entities": {"gene": [{"text": "SR-BI", "start": 72, "end": 77}], "disease": [{"text": "female infertility", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Conversely, gain of FGF23 function by injection of wild-type mice with recombinant FGF23 or by elevated circulating levels of endogenous Fgf23 in Hyp mice increases distal tubular Na (+) uptake and membrane abundance of NCC, leading to volume expansion, hypertension, and heart hypertrophy in a αKlotho and dietary Na (+)-dependent fashion.", "output": {"entities": {"gene": [{"text": "Fgf23", "start": 137, "end": 142}], "disease": [{"text": "heart hypertrophy", "start": 272, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "S1P is associated with protection in human and experimental cerebral malaria.", "output": {"entities": {"gene": [{"text": "S1P", "start": 0, "end": 3}], "disease": [{"text": "cerebral malaria", "start": 60, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Although the importance of obesity in colon cancer risk and outcome is recognized, the association of body mass index (BMI) with DNA mismatch repair (MMR) status is unknown.", "output": {"entities": {"gene": [{"text": "MMR", "start": 150, "end": 153}], "disease": [{"text": "body mass index", "start": 102, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.", "output": {"entities": {"gene": [{"text": "PITX2", "start": 41, "end": 46}], "disease": [{"text": "Axenfeld-Rieger syndrome", "start": 0, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PITX2", "start": 41, "end": 46}, "tail": {"text": "Axenfeld-Rieger syndrome", "start": 0, "end": 24}}]}}, "schema": []}
{"input": "These findings indicate specific prodynorphin amygdala impairment in association with mood disorder.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 33, "end": 45}], "disease": [{"text": "mood disorder", "start": 86, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 33, "end": 45}, "tail": {"text": "mood disorder", "start": 86, "end": 99}}]}}, "schema": []}
{"input": "Comparative monitoring of MRD by RQ-PCR for the Wilms' tumor gene 1 (WT1) or specific translocation markers demonstrated that BAALC had similar kinetics as WT1, AML1/ETO and minor BCR/ABL, but not PML/RARA.", "output": {"entities": {"gene": [{"text": "AML1", "start": 161, "end": 165}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Microsatellite markers may provide evidence of faulty DNA mismatch repair (MMR) via the detection of microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 75, "end": 78}], "disease": [{"text": "microsatellite instability", "start": 101, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of PRR11 was observed in esophageal, gastric, pancreatic, colorectal, and hilar cholangiocarcinoma.", "output": {"entities": {"gene": [{"text": "PRR11", "start": 18, "end": 23}], "disease": [{"text": "esophageal", "start": 40, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The immunoreactivity for debrin in stratum lucidum of hippocampus CA3 area increased 7 days after ischemia.", "output": {"entities": {"gene": [{"text": "CA3", "start": 66, "end": 69}], "disease": [{"text": "ischemia", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Somatic PTPN11, KRAS, and RAF1 mutations occur (although at different frequencies) in a variety of sporadic neoplasms, but whether SOS1 mutations are associated with human cancer has not been evaluated.", "output": {"entities": {"gene": [{"text": "RAF1", "start": 26, "end": 30}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "In this study, we reported that hypoxia could induce HIF-1α and VEGF expression accompanied by Rac1 activation in MCF-7 breast cancer cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 64, "end": 68}], "disease": [{"text": "hypoxia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In the present study of normal subjects with nonfatty livers and patients with steatosis, diabetic cirrhosis, and alcoholic cirrhosis, we sought to determine SULT1A1, SULT2A1, SULT1E1, and SULT1A3 activity and mRNA and protein expression in human liver tissue.", "output": {"entities": {"gene": [{"text": "SULT2A1", "start": 167, "end": 174}], "disease": [{"text": "alcoholic cirrhosis", "start": 114, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Results of the present studies demonstrate a significant reduction in the B (max) value of [3H] cyclic AMP binding to the regulatory subunit of PKA in the supernatant fraction of fibroblasts from patients with major depression with no change in the K (d) values.", "output": {"entities": {"gene": [{"text": "AMP", "start": 103, "end": 106}], "disease": [{"text": "major depression", "start": 210, "end": 226}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 103, "end": 106}, "tail": {"text": "major depression", "start": 210, "end": 226}}]}}, "schema": []}
{"input": "To investigate the relationship between aquaporin-5 (AQP5) expression and mucus overproduction in the airways of Chinese patients with chronic obstructive pulmonary disease (COPD) and the correlation with pulmonary function change.", "output": {"entities": {"gene": [{"text": "AQP5", "start": 53, "end": 57}], "disease": [{"text": "pulmonary function", "start": 205, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Similarly, immunohistochemical staining of 82 HCC samples showed that IQGAP2 protein expression was reduced in 64/82 (78. 0%), while IQGAP1 was present in 69/82 (84. 1%).", "output": {"entities": {"gene": [{"text": "IQGAP2", "start": 70, "end": 76}], "disease": [{"text": "HCC", "start": 46, "end": 49}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IQGAP2", "start": 70, "end": 76}, "tail": {"text": "HCC", "start": 46, "end": 49}}]}}, "schema": []}
{"input": "We previously reported the suppressive effect of cinacalcet on PTH secretion in vivo in a PHPT model mouse, in which parathyroid-targeted overexpression of the cyclin D1 oncogene caused chronic biochemical hyperparathyroidism and parathyroid cell hyperplasia.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 160, "end": 169}], "disease": [{"text": "hyperplasia", "start": 247, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cyclin D1", "start": 160, "end": 169}, "tail": {"text": "hyperplasia", "start": 247, "end": 258}}]}}, "schema": []}
{"input": "The results indicate that the estimation of ODC activity and polyamines in human breast carcinoma might be useful to determine tumor aggressiveness and suggest that ODC may have a potential value as both a prognostic factor and a chemoprevention target in human breast cancer.", "output": {"entities": {"gene": [{"text": "ODC", "start": 44, "end": 47}], "disease": [{"text": "aggressiveness", "start": 133, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Follicular lymphoma (FL), an indolent neoplasm caused by a t (14; 18) chromosomal translocation that juxtaposes the BCL2 gene and immunoglobulin locus, has a variable clinical course and frequently undergoes transformation to an aggressive lymphoma.", "output": {"entities": {"gene": [{"text": "BCL2 gene", "start": 116, "end": 125}], "disease": [{"text": "chromosomal translocation", "start": 70, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in patients with tumour recurrence and/or metastases, cyclin H positivity was significantly associated with reduced disease-specific survival (p = 0. 016) regardless of risk-classification.", "output": {"entities": {"gene": [{"text": "cyclin H", "start": 64, "end": 72}], "disease": [{"text": "metastases", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether Th1, Th22 and Th17 cells mediated cellular immunity at the local site of M. tuberculosis infection in patients with tuberculous pleurisy (TBP).", "output": {"entities": {"gene": [{"text": "Th1", "start": 24, "end": 27}], "disease": [{"text": "tuberculosis infection", "start": 100, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The translocation t (X; 18) (p11. 2; q11. 2) characterizes synovial sarcoma, fusing the SYT gene at 18q11. 2 to either SSX1 or SSX2 at Xp11. 2.", "output": {"entities": {"gene": [{"text": "SSX2", "start": 127, "end": 131}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Our findings show that the 8; 21 translocation, its variants, and the masked t (8; 21) may all be detectable by the Southern hybridization method using the AML1 probes.", "output": {"entities": {"gene": [{"text": "AML1", "start": 156, "end": 160}], "disease": [{"text": "translocation", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Univariate and multivariate analysis by Cox regression including PAK1 and other prognostic pathological markers demonstrated high PAK1 immunostaining as a prognostic factor for survival in pancreatic cancer patients (P < 0. 005).", "output": {"entities": {"gene": [{"text": "PAK1", "start": 65, "end": 69}], "disease": [{"text": "regression", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In poor prognosis acute myeloid leukemia (AML), the combination of fludarabine with Ara-C and granulocyte colony-stimulating factor (G-CSF) has proven to be a highly effective regimen.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 94, "end": 131}], "disease": [{"text": "acute myeloid leukemia", "start": 18, "end": 40}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 94, "end": 131}, "tail": {"text": "acute myeloid leukemia", "start": 18, "end": 40}}]}}, "schema": []}
{"input": "Western blotting showed that prenatal alcohol exposure at the dose of 3 g/kg/day also inhibited TrkB phosphorylation in the hippocampus although no changes in total TrkB protein levels were observed in any region examined.", "output": {"entities": {"gene": [{"text": "TrkB", "start": 96, "end": 100}], "disease": [{"text": "prenatal alcohol exposure", "start": 29, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TrkB", "start": 96, "end": 100}, "tail": {"text": "prenatal alcohol exposure", "start": 29, "end": 54}}]}}, "schema": []}
{"input": "In conclusion, this screen of DNA repair genes implicates PRKDC and POLQ as candidate tumor suppressor genes involved in breast cancer and suggests that inactivating mutations in RAD50 predispose to pancreatic cancer as well as breast cancer.", "output": {"entities": {"gene": [{"text": "POLQ", "start": 68, "end": 72}], "disease": [{"text": "pancreatic cancer", "start": 199, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Many pro-apoptotic factors, such as nuclear factor-kappa B (NF-κB) and Fas, play crucial roles in the process of Leydig cell apoptosis, ultimately leading to male sterility, such as in Sertoli cell only syndrome (SCO) and hypospermatogenesis.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 60, "end": 65}], "disease": [{"text": "hypospermatogenesis", "start": 222, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "The branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss, and renal anomalies.", "output": {"entities": {"gene": [{"text": "BOR", "start": 24, "end": 27}], "disease": [{"text": "branchial cysts", "start": 108, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "In this report, we studied a family affected with acrokeratosis verruciformis in six generations and identified a heterozygous P602L mutation in ATP2A2.", "output": {"entities": {"gene": [{"text": "ATP2A2", "start": 145, "end": 151}], "disease": [{"text": "acrokeratosis verruciformis", "start": 50, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2A2", "start": 145, "end": 151}, "tail": {"text": "acrokeratosis verruciformis", "start": 50, "end": 77}}]}}, "schema": []}
{"input": "Augmentation of disease risk was found for the complex genotype HM74 [A, any] + MCHR1 [T, any] + MCHR2 [C, any] which conferred an OR maximal for the combined diagnostic category of schizophrenia plus bipolar disorder (1. 70, p = 0. 003), carried by 30% of the cases.", "output": {"entities": {"gene": [{"text": "MCHR1", "start": 80, "end": 85}], "disease": [{"text": "schizophrenia", "start": 182, "end": 195}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCHR1", "start": 80, "end": 85}, "tail": {"text": "schizophrenia", "start": 182, "end": 195}}]}}, "schema": []}
{"input": "The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, & #946;-tubulin, & #945;-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients.", "output": {"entities": {"gene": [{"text": "vinculin", "start": 137, "end": 145}], "disease": [{"text": "ACS", "start": 504, "end": 507}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vinculin", "start": 137, "end": 145}, "tail": {"text": "ACS", "start": 504, "end": 507}}]}}, "schema": []}
{"input": "Double-blind, placebo-controlled, multicenter, randomized, phase IIb neoadjuvant study of letrozole-lapatinib in postmenopausal hormone receptor-positive, human epidermal growth factor receptor 2-negative, operable breast cancer.", "output": {"entities": {"gene": [{"text": "human epidermal growth factor receptor 2", "start": 155, "end": 195}], "disease": [{"text": "blind", "start": 7, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS.", "output": {"entities": {"gene": [{"text": "LAGE3", "start": 68, "end": 73}], "disease": [{"text": "GAMOS", "start": 170, "end": 175}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LAGE3", "start": 68, "end": 73}, "tail": {"text": "GAMOS", "start": 170, "end": 175}}]}}, "schema": []}
{"input": "Using polymerase chain reaction and DNA sequencing, gene polymorphisms of TLR4 (Asp299Gly and Thr399Ile) and TLR2 (Arg753Gln) in 59 children with sepsis, 38 children with severe sepsis (including 20 septic shock) and 57 healthy controls were analyzed.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 109, "end": 113}], "disease": [{"text": "septic shock", "start": 199, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "In the active screening, CLIP-PCR identified 14 infections, including 4 asymptomatic ones, with < 500 tests, costing < US $0. 60 for each sample.", "output": {"entities": {"gene": [{"text": "CLIP", "start": 25, "end": 29}], "disease": [{"text": "asymptomatic", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Circulating levels and clinical significance of soluble CD86 in myeloma patients.", "output": {"entities": {"gene": [{"text": "CD86", "start": 56, "end": 60}], "disease": [{"text": "myeloma", "start": 64, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD86", "start": 56, "end": 60}, "tail": {"text": "myeloma", "start": 64, "end": 71}}]}}, "schema": []}
{"input": "The decrease in HMGN5 expression in human glioma U251 and U87 cells caused cell cycle arrest in the G1 phase and a delay in cell proliferation, as well as resulting in more apoptosis and an inhibition of clonogenic growth in soft agar in U251 cells; these results suggest that HMGN5 is required for tumorigenesis in vitro.", "output": {"entities": {"gene": [{"text": "U87", "start": 58, "end": 61}], "disease": [{"text": "glioma", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Fourteen and 24 patients, including ours, with acute myeloblastic leukemia associated with a t (1; 11) (p32; q23) and a t (11; 17) (q23; q21), respectively have been reported in the literature.", "output": {"entities": {"gene": [{"text": "p32", "start": 104, "end": 107}], "disease": [{"text": "acute myeloblastic leukemia", "start": 47, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Two mutations initially reported as causing Dent-2 disease were identified in patients, including two brothers, presenting with Lowe syndrome thus extending the clinical variability of OCRL1 mutations. mRNA levels, protein content, and PiP (2)-ase activities were analyzed in patient' s fibroblasts.", "output": {"entities": {"gene": [{"text": "OCRL1", "start": 185, "end": 190}], "disease": [{"text": "Lowe syndrome", "start": 128, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCRL1", "start": 185, "end": 190}, "tail": {"text": "Lowe syndrome", "start": 128, "end": 141}}]}}, "schema": []}
{"input": "Loss of heterozygosity (LOH) was found in 41% of 93 carcinomas without microsatellite instability (RER (-)), but no mutations were found by genomic sequencing.", "output": {"entities": {"gene": [{"text": "RER", "start": 99, "end": 102}], "disease": [{"text": "carcinomas", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Cells defective in BRCA1 show genomic instability as evidenced by increased radiosensitivity, the presence of chromosomal abnormalities and the loss of heterozygosity at many loci.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 19, "end": 24}], "disease": [{"text": "genomic instability", "start": 30, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.", "output": {"entities": {"gene": [{"text": "SLC30A10", "start": 100, "end": 108}], "disease": [{"text": "hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia", "start": 12, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC30A10", "start": 100, "end": 108}, "tail": {"text": "hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia", "start": 12, "end": 76}}]}}, "schema": []}
{"input": "Polymorphisms in copper/zinc superoxide dismutase (CuZn-SOD), manganese superoxide dismutase (MnSOD), glutathione-S-transferase M1 (GSTM1), and glutathione-S-transferase T1 (GSTT1) in the umbilical cord tissue were assayed by polymerase chain reaction (PCR) in 23 nulliparous preeclampsia cases and 32 nulliparous normotensive controls.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 132, "end": 137}], "disease": [{"text": "preeclampsia", "start": 276, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "In order to investigate the role of soluble CD44 (CD44 (sol)) in colon cancer cell growth, SW620, a human colon cancer cell line deficient in CD44 expression was stably transfected with human CD44 cDNA containing exons 1-5, 15 and 16 of the human CD44.", "output": {"entities": {"gene": [{"text": "CD44", "start": 44, "end": 48}], "disease": [{"text": "sol", "start": 36, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of p21, p27, and ER-alpha is seen in inclusion cyst compared with ovarian surface epithelium of women with and without an inherited risk of adnexal carcinoma.", "output": {"entities": {"gene": [{"text": "ER-alpha", "start": 38, "end": 46}], "disease": [{"text": "inclusion cyst", "start": 58, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Therefore, targeted sequencing of the polymerase genes POLD1, POLD2, POLD3, POLD4, POLE, POLE2, POLE3 and POLE4 was performed in 266 unrelated patients with polyposis or fulfilled Amsterdam criteria.", "output": {"entities": {"gene": [{"text": "POLD3", "start": 69, "end": 74}], "disease": [{"text": "polyposis", "start": 157, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that the TRPM8 receptor is involved in cold-induced mucus hypersecretion through the Ca (2 +)-PLC-PIP2-MARCKS signaling pathway.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 32, "end": 37}], "disease": [{"text": "cold", "start": 62, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Although reduction of Dkk-1 expression by RNA interference was able to upregulate the expression of beta-catenin, c-Myc, and cyclin D1 in H7402 cells, it also promoted beta-catenin translocation from cytoplasm into nuclei and increased the migration of the cells.", "output": {"entities": {"gene": [{"text": "Dkk-1", "start": 22, "end": 27}], "disease": [{"text": "translocation", "start": 181, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we report that IGFBP-3 protein levels were either undetectable (28. 5%) or low (71. 5%) in human HCC samples examined compared with matched non-neoplastic liver tissue by Western blotting.", "output": {"entities": {"gene": [{"text": "HCC", "start": 119, "end": 122}], "disease": [{"text": "non-neoplastic", "start": 162, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Therefore, impaired 11beta-HSD2 protein stability rather than reduced gene expression or loss of catalytic activity seems to be responsible for the development of hypertension in some individuals with AME.", "output": {"entities": {"gene": [{"text": "HSD2", "start": 27, "end": 31}], "disease": [{"text": "AME", "start": 201, "end": 204}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSD2", "start": 27, "end": 31}, "tail": {"text": "AME", "start": 201, "end": 204}}]}}, "schema": []}
{"input": "Some common single nucleotide polymorphisms (SNPs) in genes of the IGF pathway have also been suggested to play a role in mammographic density.", "output": {"entities": {"gene": [{"text": "IGF", "start": 67, "end": 70}], "disease": [{"text": "mammographic density", "start": 122, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "FOXP1, the AR and various hypoxia-regulated proteins (HIF-1alpha, HIF-2alpha, and VEGF) were measured with immunohistochemistry using a tissue microarray constructed from 167 archival radical prostatectomies.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 82, "end": 86}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "A total of 205 hypertensive patients (60 ± 8 years) underwent echocardiography with assessment of cardiac morphology, LV systolic (strain and strain rate) and diastolic function (peak early diastolic mitral flow velocity/peak late diastolic mitral flow velocity (E/A) ratio, peak early diastolic myocardial velocity (Em), and E/e' ratio (where e' is the peak early diastolic mitral annular velocity)), evaluation of serum procollagen type III amino-terminal propeptide (PIIINP) and procollagen type I carboxy-terminal propeptide (PICP)-markers of fibrosis and the PPARGC1A Gly482Ser genotyping.", "output": {"entities": {"gene": [{"text": "PPARGC1A", "start": 564, "end": 572}], "disease": [{"text": "fibrosis", "start": 547, "end": 555}]}, "relations": {}}, "schema": []}
{"input": "A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 14, "end": 19}], "disease": [{"text": "metatropic dysplasia", "start": 79, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPV4", "start": 14, "end": 19}, "tail": {"text": "metatropic dysplasia", "start": 79, "end": 99}}]}}, "schema": []}
{"input": "We suggest that parental imprinting may play a role in the ethiology of HSCR caused by mutations in the RET protooncogene.", "output": {"entities": {"gene": [{"text": "RET", "start": 104, "end": 107}], "disease": [{"text": "HSCR", "start": 72, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 104, "end": 107}, "tail": {"text": "HSCR", "start": 72, "end": 76}}]}}, "schema": []}
{"input": "In multiple logistic regression analysis, AA homozygote in FTO was associated with higher odds of overweight (BMI ≥ 25 kg/m (2)) in young (OR 1. 73 (95% CI 1. 06-30. 0)) and middle-aged women (OR 1. 73 (95% CI 1. 06-30. 0)).", "output": {"entities": {"gene": [{"text": "FTO", "start": 59, "end": 62}], "disease": [{"text": "overweight", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning.", "output": {"entities": {"gene": [{"text": "COL4A4", "start": 50, "end": 56}], "disease": [{"text": "retinopathy", "start": 275, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "Methylation in the hypoxia response element of the NOS3 promoter was increased in IUGR-HUAEC and decreased in HUVEC.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 51, "end": 55}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Associations have been reported between the serotonin transporter (5-HTT) and aggression, and between socioeconomic status (SES), aggression, and serotonergic functions of the brain.", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 67, "end": 72}], "disease": [{"text": "aggression", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Additionally, an age-dependent decrease in Cisd2 expression has been detected during normal aging.", "output": {"entities": {"gene": [{"text": "Cisd2", "start": 43, "end": 48}], "disease": [{"text": "aging", "start": 92, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "HDAC7 knockdown inhibited hypoxia-induced HIF-1α activity in U937 cells, and HIF-1α nuclear translocation and HIF-1α binding to the VEGF promoter in A549 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 132, "end": 136}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that mutated p21 ras provided the human keratinocytes with a growth advantage in vivo (benign tumor growth), but acquisition of repair deficiency is required for progression from benign to malignant state.", "output": {"entities": {"gene": [{"text": "p21", "start": 33, "end": 36}], "disease": [{"text": "benign tumor", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "These preliminary results implicate GABRG2 in suicide and warrant further investigation and replication in larger samples.", "output": {"entities": {"gene": [{"text": "GABRG2", "start": 36, "end": 42}], "disease": [{"text": "suicide", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Exposure of wild-type HT1080 cells to 1% hypoxia resulted in HIF-1alpha up-regulation and a 74% increase in VEGF-A secretion as compared with secretion under normoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 108, "end": 114}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The RNA-binding protein Musashi1 affects medulloblastoma growth via a network of cancer-related genes and is an indicator of poor prognosis.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 4, "end": 23}], "disease": [{"text": "medulloblastoma", "start": 41, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "SAM administration to carcinogen-treated rats prevents hepatocarcinogenesis, whereas MAT1A-KO mice, characterized by chronic SAM deficiency, exhibit macrovesicular steatosis, mononuclear cell infiltration in periportal areas, and HCC development.", "output": {"entities": {"gene": [{"text": "HCC", "start": 230, "end": 233}], "disease": [{"text": "macrovesicular steatosis", "start": 149, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Whereas MBD2 depletion in normal liver cells had little or no effect, we found that its depletion in human HCC and adenocarcinoma cells resulted in suppression of cell growth, anchorage-independent growth and invasiveness as well as an increase in promoter methylation and silencing of several of the genes that are hypomethylated in tumors.", "output": {"entities": {"gene": [{"text": "MBD2", "start": 8, "end": 12}], "disease": [{"text": "adenocarcinoma", "start": 115, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have used a human folliculostellate cell line (PDFS) to explore the signaling mechanisms that cause the translocation of Ser-P-ANXA1 to the membrane together with Western blot analysis and flow cytometry to detect the phosphorylated protein.", "output": {"entities": {"gene": [{"text": "ANXA1", "start": 152, "end": 157}], "disease": [{"text": "translocation", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The TNFRSF1A R92Q mutation behaves as a genetic risk factor for MS and other inflammatory diseases, including TRAPS.", "output": {"entities": {"gene": [{"text": "TNFRSF1A", "start": 4, "end": 12}], "disease": [{"text": "TRAPS", "start": 110, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFRSF1A", "start": 4, "end": 12}, "tail": {"text": "TRAPS", "start": 110, "end": 115}}]}}, "schema": []}
{"input": "To determine ovarian reserve, 42 premenopausal GALT carriers underwent ovarian antral follicle count (AFC) by transvaginal ultrasound and early follicular phase blood sampling for hormonal measurement of follicle-stimulating hormone (FSH), inhibin B, and anti-Müllerian hormone (AMH).", "output": {"entities": {"gene": [{"text": "AMH", "start": 279, "end": 282}], "disease": [{"text": "ovarian reserve", "start": 13, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "At first, we checked the absence of initial differences in the expression of several gene transcripts involved in the development of morphine dependence in Per2 (Brdm1) mutant mice and in their respective wild-type (WT) control littermates.", "output": {"entities": {"gene": [{"text": "Per2", "start": 156, "end": 160}], "disease": [{"text": "morphine dependence", "start": 133, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Similarly, immunohistochemical staining of 82 HCC samples showed that IQGAP2 protein expression was reduced in 64/82 (78. 0%), while IQGAP1 was present in 69/82 (84. 1%).", "output": {"entities": {"gene": [{"text": "IQGAP1", "start": 133, "end": 139}], "disease": [{"text": "HCC", "start": 46, "end": 49}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IQGAP1", "start": 133, "end": 139}, "tail": {"text": "HCC", "start": 46, "end": 49}}]}}, "schema": []}
{"input": "Because disturbances in intracellular transport and protein secretion mechanisms are associated with a number of ageing-associated neurodegenerative diseases, cell-permeable PEP inhibitors may be useful for the application in a variety of related clinical conditions.", "output": {"entities": {"gene": [{"text": "PEP", "start": 174, "end": 177}], "disease": [{"text": "ageing", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "EA2-causing missense and nonsense mutations in CACNA1A produced mutant channels with diminished whole cell calcium channel activity in vitro due to loss of function.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 47, "end": 54}], "disease": [{"text": "EA2", "start": 0, "end": 3}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 47, "end": 54}, "tail": {"text": "EA2", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "IL-18 was localized by immunohistochemical analysis in brain sections obtained from tuberous sclerosis and encephalitis patients, as well as from gender-and age-matched controls, and in the brain sections of both Reeler and wild-type mice.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 0, "end": 5}], "disease": [{"text": "tuberous sclerosis", "start": 84, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Further, several genome scans for mood disorders, both unipolar and bipolar, have indicated linkage to the chromosomal regions of 5q23-q33. 3, 8p12-p11. 2, 4p16, and 10q24-q26, the location of the adrenergic receptors alpha1B (ADRA1B), beta3 (ADRB3), alpha2C (ADRA2C), alpha2A (ADRA2A), and beta1 (ADRB1).", "output": {"entities": {"gene": [{"text": "ADRA1B", "start": 227, "end": 233}], "disease": [{"text": "mood disorders", "start": 34, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADRA1B", "start": 227, "end": 233}, "tail": {"text": "mood disorders", "start": 34, "end": 48}}]}}, "schema": []}
{"input": "Amplification analysis and sequencing of genomic DNA of three affected individuals revealed a chromosomal deletion of approximately 84 kb in the RCA gene cluster, resulting in loss of the genes coding for CFHR1 and CFHR3, but leaving the genomic structure of factor H intact.", "output": {"entities": {"gene": [{"text": "CFHR1", "start": 205, "end": 210}], "disease": [{"text": "chromosomal deletion", "start": 94, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Considering that nerve growth factor exerts beneficial effects in the treatment of major central and peripheral neurodegenerative diseases, skin and corneal ulcers, we asked whether nerve growth factor could also exert a role in Cyclosporine A-induced graft nephrotoxicity.", "output": {"entities": {"gene": [{"text": "nerve growth factor", "start": 17, "end": 36}], "disease": [{"text": "neurodegenerative diseases", "start": 112, "end": 138}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "nerve growth factor", "start": 17, "end": 36}, "tail": {"text": "neurodegenerative diseases", "start": 112, "end": 138}}]}}, "schema": []}
{"input": "To examine whether FOXO3a-Sirt1 activation is involved in diabetes-induced cardiomyocyte apoptosis and ventricular hypertrophy.", "output": {"entities": {"gene": [{"text": "Sirt1", "start": 26, "end": 31}], "disease": [{"text": "ventricular hypertrophy", "start": 103, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.", "output": {"entities": {"gene": [{"text": "AGXT", "start": 74, "end": 78}], "disease": [{"text": "Primary hyperoxaluria type 1", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGXT", "start": 74, "end": 78}, "tail": {"text": "Primary hyperoxaluria type 1", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "To investigate this discrepancy, we evaluated the character of vaccine-induced CD8 (+) T cells with regard to the inhibitory T-cell coreceptors PD-1 and Tim-3 in patients with metastatic melanoma who were administered tumor vaccines.", "output": {"entities": {"gene": [{"text": "CD8", "start": 79, "end": 82}], "disease": [{"text": "metastatic melanoma", "start": 176, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "It is suggested that the initial oncogenic event for most MM tumors is a primary immunoglobulin translocation that dysregulates cyclin D1, cyclin D3, and other oncogenes to provide a proliferative stimulus to postgerminal center plasma cells.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 139, "end": 148}], "disease": [{"text": "translocation", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response.", "output": {"entities": {"gene": [{"text": "MIM", "start": 15, "end": 18}], "disease": [{"text": "neurological disorder", "start": 53, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We observed a bimodal increase in pCREB, TORC1 and BDNF protein levels and transient nuclear accumulation of TORC1 in the acute stage of ischemia.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 51, "end": 55}], "disease": [{"text": "ischemia", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Cluster 1 correlated strongly with less smoking (P < 0. 001), papillary histology (P < 0. 001), and EGFR mutations (P < 0. 001).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 100, "end": 104}], "disease": [{"text": "smoking", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8. 8% and 13. 4% of normal, respectively) due to a missense A143T mutation.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 114, "end": 135}], "disease": [{"text": "Fabry disease", "start": 47, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 114, "end": 135}, "tail": {"text": "Fabry disease", "start": 47, "end": 60}}]}}, "schema": []}
{"input": "The novel DSV (1500G > C) of NKX2-5 gene may contribute to a small number of VSD, and rs2277923 SNP may contribute to the risk of sporadic ASD in Chinese Yunnan population.", "output": {"entities": {"gene": [{"text": "NKX2-5 gene", "start": 29, "end": 40}], "disease": [{"text": "sporadic", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase.", "output": {"entities": {"gene": [{"text": "SGPL1", "start": 168, "end": 173}], "disease": [{"text": "adrenal insufficiency", "start": 52, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SGPL1", "start": 168, "end": 173}, "tail": {"text": "adrenal insufficiency", "start": 52, "end": 73}}]}}, "schema": []}
{"input": "These cases could thus be subdivided into three subgroups: Group I, normal BCL2 genes (i. e., no evidence of translocation or amplification), and BCL2 protein negative; Group II, normal BCL2 genes but BCL2 protein positive; and Group III, presence of other genetic alterations, i. e., BCL2 amplification and trisomy 18, and BCL2 protein positive.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 75, "end": 79}], "disease": [{"text": "translocation", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We uncovered this role for Elf5 through analyses of Elf5 conditional knockout animals, various in vitro and in vivo models of EMT and metastasis, an MMTV-neu transgenic model of mammary tumour progression and clinical breast cancer samples.", "output": {"entities": {"gene": [{"text": "EMT", "start": 126, "end": 129}], "disease": [{"text": "tumour progression", "start": 186, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "This chromosomal translocation or similar bcl-2 gene rearrangements involving the Ig light-chain genes have been reported to occur in some cases of B-cell chronic lymphocytic leukemia (B-CLL).", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 42, "end": 52}], "disease": [{"text": "chromosomal translocation", "start": 5, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, though no significant correlation was found between PTEN mutations and histopathological properties of GBM tumors, our findings indicate that localizations of mutations in PTEN gene may have an effect on clinical aggressiveness of GBM tumors.", "output": {"entities": {"gene": [{"text": "PTEN gene", "start": 185, "end": 194}], "disease": [{"text": "aggressiveness", "start": 226, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Cyclin D1 overexpression was observed in 26 of 47 (55%) PN hyperplasias, 3 of 4 (75%) papillomas, and 10 of 18 (56%) TCCs.", "output": {"entities": {"gene": [{"text": "Cyclin D1", "start": 0, "end": 9}], "disease": [{"text": "hyperplasias", "start": 59, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cyclin D1", "start": 0, "end": 9}, "tail": {"text": "hyperplasias", "start": 59, "end": 71}}]}}, "schema": []}
{"input": "In cultured vascular smooth muscle cells, Ang II promotes translocation of Atox1 to the nucleus, thereby increasing SOD3 transcription by binding to Atox1-responsive element in the SOD3 promoter.", "output": {"entities": {"gene": [{"text": "SOD3", "start": 116, "end": 120}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We confirmed that the majority of the neutrophil-stimulating activity was IL-8 by 3 different approaches: cross-desensitization experiments with IL-8, melanoma growth-stimulatory activity, and neutrophil-activating peptide 2, stimulation of calcium mobilization in cells transfected with the IL-8 receptor complementary DNA, and inhibition of the activity following pretreatment of the supernatants with an anti-IL-8 antibody.", "output": {"entities": {"gene": [{"text": "neutrophil-activating peptide 2", "start": 193, "end": 224}], "disease": [{"text": "melanoma", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Intriguingly, while pretreatment of angiomyolipoma cells with RAD001 attenuated CHOP and BiP induction, apoptotic markers cleaved PARP and caspase-3 and eukaryotic translation initiation factor 2α phosphorylation were increased, along with evidence of increased autophagy.", "output": {"entities": {"gene": [{"text": "CHOP", "start": 80, "end": 84}], "disease": [{"text": "angiomyolipoma", "start": 36, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We show that tumors that constitutively express VEGF-A present with different vascular beds than tumors in which VEGF-A is expressed as a response to central hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 48, "end": 54}], "disease": [{"text": "hypoxia", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, hMLH1 methylation is significantly associated with increased microsatellite instability in plasma DNA at relapse, providing an independent measure of function of the MMR pathway.", "output": {"entities": {"gene": [{"text": "MMR", "start": 179, "end": 182}], "disease": [{"text": "microsatellite instability", "start": 74, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that smoking is related to an increased expression of receptor of advanced glycation end products (RAGE) in gingival tissues of smokers.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 114, "end": 118}], "disease": [{"text": "smoking", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia.", "output": {"entities": {"gene": [{"text": "LHRH", "start": 53, "end": 57}], "disease": [{"text": "bradycardia", "start": 147, "end": 158}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "LHRH", "start": 53, "end": 57}, "tail": {"text": "bradycardia", "start": 147, "end": 158}}]}}, "schema": []}
{"input": "The glucocorticoid resistance in vivo in these two patients corresponds to impaired function of the two mutated GR forms in two in vitro assays.", "output": {"entities": {"gene": [{"text": "GR", "start": 112, "end": 114}], "disease": [{"text": "glucocorticoid resistance", "start": 4, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GR", "start": 112, "end": 114}, "tail": {"text": "glucocorticoid resistance", "start": 4, "end": 29}}]}}, "schema": []}
{"input": "We now report that aberrant expression of Cdk1 interferes with apoptosis and promotes the formation of polyploid senescent cells during TCS.", "output": {"entities": {"gene": [{"text": "Cdk1", "start": 42, "end": 46}], "disease": [{"text": "polyploid", "start": 103, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "To determine whether human cells also demonstrate improved radiosensitization similar to that seen with rat glioma cells and tumors, we transduced U87 MG cells with either AdCMV-TK75, AdCMV-TK, expressing wild-type HSV-TK, or Adbetagal and then treated the cells with 3 microM of ACV.", "output": {"entities": {"gene": [{"text": "U87", "start": 147, "end": 150}], "disease": [{"text": "glioma", "start": 108, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Juxtaposition of human bcl-2 and immunoglobulin lambda light chain gene in chronic lymphocytic leukemia is the result of a reciprocal chromosome translocation between chromosome 18 and 22.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 23, "end": 28}], "disease": [{"text": "chromosome translocation", "start": 134, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Microdeletions Glu767 (1-bp del), Thr967 (1-bp del), and Leu1446 (2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss.", "output": {"entities": {"gene": [{"text": "USH2A gene", "start": 89, "end": 99}], "disease": [{"text": "mild", "start": 210, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).", "output": {"entities": {"gene": [{"text": "BSCL2", "start": 69, "end": 74}], "disease": [{"text": "SS", "start": 39, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BSCL2", "start": 69, "end": 74}, "tail": {"text": "SS", "start": 39, "end": 41}}]}}, "schema": []}
{"input": "These findings suggest that impaired down-regulation of E-cadherin and beta-catenin protein expression, along with Wnt/beta-catenin signaling pathway activation during the window of implantation, might be one of the potential molecular mechanisms of infertility in patients with endometriosis.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 56, "end": 66}], "disease": [{"text": "infertility", "start": 250, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "To address this issue, we have analyzed wild-type and mutant CASRs harboring R66H, R66C or N583X-inactivating mutations identified in familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroid patients, which were transiently expressed in kidney cells.", "output": {"entities": {"gene": [{"text": "CASR", "start": 61, "end": 65}], "disease": [{"text": "familial hypocalciuric hypercalcemia", "start": 134, "end": 170}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CASR", "start": 61, "end": 65}, "tail": {"text": "familial hypocalciuric hypercalcemia", "start": 134, "end": 170}}]}}, "schema": []}
{"input": "Increase in cytokine production (IL-1 beta, IL-6, TNF-alpha but not IFN-gamma, GM-CSF or LIF) by stimulated whole blood cells in postmenopausal osteoporosis.", "output": {"entities": {"gene": [{"text": "IL-1 beta", "start": 33, "end": 42}], "disease": [{"text": "postmenopausal osteoporosis", "start": 129, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1 beta", "start": 33, "end": 42}, "tail": {"text": "postmenopausal osteoporosis", "start": 129, "end": 156}}]}}, "schema": []}
{"input": "Transfection splicing assays of SMN minigenes under hypoxia revealed that hypoxia-induced skipping is dependent on poor exon definition due to the SMN2 C > T mutation and suboptimal 5' splice site.", "output": {"entities": {"gene": [{"text": "SMN", "start": 32, "end": 35}], "disease": [{"text": "hypoxia", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Mutations in TMEM76 * cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).", "output": {"entities": {"gene": [{"text": "TMEM76", "start": 13, "end": 19}], "disease": [{"text": "Sanfilippo C syndrome", "start": 56, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM76", "start": 13, "end": 19}, "tail": {"text": "Sanfilippo C syndrome", "start": 56, "end": 77}}]}}, "schema": []}
{"input": "The Second Heart Field (SHF) has been implicated in several forms of congenital heart disease (CHD), including atrioventricular septal defects (AVSDs).", "output": {"entities": {"gene": [{"text": "SHF", "start": 24, "end": 27}], "disease": [{"text": "congenital heart disease", "start": 69, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the structural stability of the N-domain rather than the loss of ATP binding plays a defining role in the ability of ATP7B to reach the trans-Golgi network, thus contributing to phenotypic variability in WD.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 134, "end": 139}], "disease": [{"text": "WD", "start": 221, "end": 223}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7B", "start": 134, "end": 139}, "tail": {"text": "WD", "start": 221, "end": 223}}]}}, "schema": []}
{"input": "In a longitudinal association analysis, the combination of the ALDH2 genotype and pack-years of smoking synergistically increased the risk of airway obstruction.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 63, "end": 68}], "disease": [{"text": "smoking", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Interaction between Gambogic acid and dihydrofolate reductase and synergistic lethal effects with methotrexate on hepatoma cells.", "output": {"entities": {"gene": [{"text": "dihydrofolate reductase", "start": 38, "end": 61}], "disease": [{"text": "hepatoma", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our data indicate that miR-132 and miR-15a/16 act as tumor suppressor genes in pituitary tumor by directly targetting Sox5, and imply that these miRNAs have potential as therapeutic targets for invasive pituitary tumor.", "output": {"entities": {"gene": [{"text": "Sox5", "start": 133, "end": 137}], "disease": [{"text": "pituitary tumor", "start": 94, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "It seems likely that in the genetically different predisposed hosts, the same antigen (s) may cause the development of sarcoid or tuberculous Th1 response.", "output": {"entities": {"gene": [{"text": "Th1", "start": 142, "end": 145}], "disease": [{"text": "sarcoid", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Spectral karyotyping (SKY) analysis revealed a balanced translocation, t (4; 17) (q21-q22; p13) in S1-M1-80 and multiple clonal translocations involving chromosome 4 in MCF-7 AdVp3000 and MCF-7 MX.", "output": {"entities": {"gene": [{"text": "SKY", "start": 22, "end": 25}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "A germline 3938insG mutation in BRCA1 was found in 5 breast-cancer patients, 1 with ductal carcinoma in situ, ovarian cancer and an adenoma of the colon, and in 4/5 colorectal-cancer patients investigated.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 32, "end": 37}], "disease": [{"text": "adenoma of the colon", "start": 132, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "CD3, CD4, as well as uPAR mRNA expression were assessed with quantitative real-time polymerase chain reaction in plaque homogenates from 123 patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 5, "end": 8}], "disease": [{"text": "plaque", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The genes selected for our investigation are involved in key cellular processes of malignant transformation, including cell cycle control (p16), apoptosis (Death Associated Protein Kinase, DAPK), Wnt signaling (Adenomatous Polyposis Coli, APC), cell-cell adhesion (E-cadherin, E-cad), and DNA repair (O (6)-methylguanine-DNA methyltransferase, MGMT, Werner syndrome gene, WRN).", "output": {"entities": {"gene": [{"text": "Werner syndrome gene", "start": 350, "end": 370}], "disease": [{"text": "cad", "start": 267, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Thus, in male CD1 mice, gestational arsenic exposure alone induced liver adenoma and carcinoma, lung adenocarcinoma, adrenal adenoma and renal cystic hyperplasia.", "output": {"entities": {"gene": [{"text": "CD1", "start": 14, "end": 17}], "disease": [{"text": "liver adenoma", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The t (8; 21) (q22; q22) translocation, present in 10-15% of acute myeloid leukemia (AML) cases results in the production of the AML1/ETO fusion protein.", "output": {"entities": {"gene": [{"text": "AML1", "start": 129, "end": 133}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether the ubiquitous transcription factor Sp1 is abnormally expressed in schizophrenia, and consequently can affect the expression of genes implicated in this disorder.", "output": {"entities": {"gene": [{"text": "transcription factor Sp1", "start": 39, "end": 63}], "disease": [{"text": "schizophrenia", "start": 91, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transcription factor Sp1", "start": 39, "end": 63}, "tail": {"text": "schizophrenia", "start": 91, "end": 104}}]}}, "schema": []}
{"input": "Furthermore, this point mutation was present in 91% (31 of 34) of mutant MCAD alleles, indicating that the majority of cases with MCAD deficiency are caused by this type of mutation.", "output": {"entities": {"gene": [{"text": "MCAD", "start": 73, "end": 77}], "disease": [{"text": "MCAD deficiency", "start": 130, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCAD", "start": 73, "end": 77}, "tail": {"text": "MCAD deficiency", "start": 130, "end": 145}}]}}, "schema": []}
{"input": "We show that liver-specific expression of the intracellular domain of Notch2 (N2ICD) in mice is sufficient to induce HCC formation and biliary hyperplasia.", "output": {"entities": {"gene": [{"text": "HCC", "start": 117, "end": 120}], "disease": [{"text": "biliary hyperplasia", "start": 135, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Altered TRPC7 gene expression in bipolar-I disorder.", "output": {"entities": {"gene": [{"text": "TRPC7", "start": 8, "end": 13}], "disease": [{"text": "bipolar-I disorder", "start": 33, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPC7", "start": 8, "end": 13}, "tail": {"text": "bipolar-I disorder", "start": 33, "end": 51}}]}}, "schema": []}
{"input": "Despite substantial hyperbilirubinaemia peak gamma-glutamyl transferase (GGT) remained normal.", "output": {"entities": {"gene": [{"text": "GGT", "start": 73, "end": 76}], "disease": [{"text": "hyperbilirubinaemia", "start": 20, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving & #946;-III spectrin (SPTBN2), has been described in 3 families.", "output": {"entities": {"gene": [{"text": "SPTBN2", "start": 123, "end": 129}], "disease": [{"text": "Spinocerebellar ataxia type 5", "start": 0, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPTBN2", "start": 123, "end": 129}, "tail": {"text": "Spinocerebellar ataxia type 5", "start": 0, "end": 29}}]}}, "schema": []}
{"input": "Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 24, "end": 45}], "disease": [{"text": "von Willebrand disease type III", "start": 60, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "von Willebrand factor", "start": 24, "end": 45}, "tail": {"text": "von Willebrand disease type III", "start": 60, "end": 91}}]}}, "schema": []}
{"input": "Disease status and associated ocular abnormalities were assessed primarily by measurement of visual acuity, color vision, fundus photography, and both full-field and multifocal electroretinography (ERG and mfERG).", "output": {"entities": {"gene": [{"text": "ERG", "start": 198, "end": 201}], "disease": [{"text": "abnormalities", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Acromegaly is a unique condition characterized by chronic growth hormone (GH) and insulin-like growth factor-1 (IGF-1) hypersecretion usually due to a pituitary adenoma.", "output": {"entities": {"gene": [{"text": "insulin-like growth factor-1", "start": 82, "end": 110}], "disease": [{"text": "pituitary adenoma", "start": 151, "end": 168}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "insulin-like growth factor-1", "start": 82, "end": 110}, "tail": {"text": "pituitary adenoma", "start": 151, "end": 168}}]}}, "schema": []}
{"input": "Furthermore, cartonectin showed a significant negative association with body mass index, waist to hip ratio, glucose, insulin, total cholesterol, low-density lipoprotein-cholesterol, triglycerides, High sensitivity C-reactive protein (hs-CRP) and intima-media thickness (P <. 05 and P <. 01, respectively); in multiple regression analyses, triglycerides (P =. 040) and hs-CRP (P =. 031) were predictive of cartonectin levels (P <. 05).", "output": {"entities": {"gene": [{"text": "CRP", "start": 238, "end": 241}], "disease": [{"text": "waist to hip ratio", "start": 89, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "In those patients who survive the initial phase of poisoning, filgrastim (granulocyte colony-stimulating factor) offers an effective method of treating pancytopenia and preventing overwhelming septicemia.", "output": {"entities": {"gene": [{"text": "filgrastim", "start": 62, "end": 72}], "disease": [{"text": "pancytopenia", "start": 152, "end": 164}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "filgrastim", "start": 62, "end": 72}, "tail": {"text": "pancytopenia", "start": 152, "end": 164}}]}}, "schema": []}
{"input": "Thus, loss of RB function does not provide a proliferative advantage to c-MYC-expressing HCC cells but the RB and c-MYC pathways may cooperate to control the polyploidy of mature hepatocytes.", "output": {"entities": {"gene": [{"text": "HCC", "start": 89, "end": 92}], "disease": [{"text": "polyploidy", "start": 158, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "This genomic response was preceded by the appearance within 30 min of substantially increased amounts of Ser-P-ANXA1 and by translocation of the phosphorylated protein to the cell surface.", "output": {"entities": {"gene": [{"text": "ANXA1", "start": 111, "end": 116}], "disease": [{"text": "translocation", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "t (14; 18) translocation was not associated with Bcl-2 or Bcl-6 expression.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 49, "end": 54}], "disease": [{"text": "translocation", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "A human lung cancer cell line, A549, which expresses a high level of vascular endothelial growth factor (VEGF) under hypoxia, was used as an in vitro system for bLF treatment.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 105, "end": 109}], "disease": [{"text": "hypoxia", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We found increased expression of HIF-1 & #945; and HIF-1 & #946; mRNA, as well as the target genes, VEGF, and PFKFB3 in both MDD and BPD patients in a depressive state compared to healthy control subjects.", "output": {"entities": {"gene": [{"text": "PFKFB3", "start": 110, "end": 116}], "disease": [{"text": "depressive state", "start": 151, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PFKFB3", "start": 110, "end": 116}, "tail": {"text": "depressive state", "start": 151, "end": 167}}]}}, "schema": []}
{"input": "To better define the role of VPF/VEGF in tumor biology, we screened tumorigenic lines for those expressing minimal constitutive and hypoxia-inducible VPF/VEGF.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 33, "end": 37}], "disease": [{"text": "hypoxia", "start": 132, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "HIF-1, a heterodimer of HIF-1α and HIF-1β, binds to the hypoxia responsive element (HRE) present in the promoter regions of hypoxia responsive genes, such as vascular endothelial growth factor (VEGF).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 194, "end": 198}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors.", "output": {"entities": {"gene": [{"text": "BLM gene", "start": 40, "end": 48}], "disease": [{"text": "sporadic", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Apoptosis was not observed in astrocytes with deficient neutral sphingomyelinase 2 (nSMase2), indicating that ceramide generated by nSMase2 is critical for amyloid-induced apoptosis.", "output": {"entities": {"gene": [{"text": "nSMase2", "start": 84, "end": 91}], "disease": [{"text": "amyloid", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "This phenomenon is not limited to TGF & #946; since other growth factors implicated in fibrosis, such as FGF, EGF and PDGF-B, also regulated PDGF-D and PDGF-C expression.", "output": {"entities": {"gene": [{"text": "PDGF-D", "start": 141, "end": 147}], "disease": [{"text": "fibrosis", "start": 87, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDGF-D", "start": 141, "end": 147}, "tail": {"text": "fibrosis", "start": 87, "end": 95}}]}}, "schema": []}
{"input": "Significantly, IGF1-mTOR-, AKT-, RAS-, VEGF-, Wnt-and immune-related signaling, eIF2-and proteasome-related genes were unique to SZ.", "output": {"entities": {"gene": [{"text": "eIF2", "start": 80, "end": 84}], "disease": [{"text": "SZ", "start": 129, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "eIF2", "start": 80, "end": 84}, "tail": {"text": "SZ", "start": 129, "end": 131}}]}}, "schema": []}
{"input": "In this study we analysed snap-frozen surgical resections of 16 superficial spreading melanomas, 13 nodular malignant melanomas, 2 lentigo maligna melanomas, 1 dysplastic nevus, 1 congenital nevus and 5 normal nevi from 38 patients for point mutations in the human p53 gene at exons 5-8 by polymerase chain reaction/single-strand conformation polymorphism as well as for loss of heterozygosity of p53 by restriction-fragment-length polymorphism/polymerase chain reaction in order to determine whether p53 aberrations are associated with melanoma subtypes.", "output": {"entities": {"gene": [{"text": "p53", "start": 265, "end": 268}], "disease": [{"text": "lentigo maligna", "start": 131, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Exacerbated inflammation in Lcn2 (-/-)/Il10 (-/-) mice is driven by IL-6, which also controls tumorigenesis.", "output": {"entities": {"gene": [{"text": "Lcn2", "start": 28, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Our study indicates that: i) SDC may share some genetic alterations with IDC, ii) high AR expression in SDC may play a role in tumor progression, and iii) p53 overexpression and DNA aneuploidy in both entities reflect their aggressive behavior.", "output": {"entities": {"gene": [{"text": "SDC", "start": 29, "end": 32}], "disease": [{"text": "aggressive behavior", "start": 224, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "At both ages, this effect was independent of parental atopy, FLG status, or report of an itchy flexural rash at 2 months.", "output": {"entities": {"gene": [{"text": "FLG", "start": 61, "end": 64}], "disease": [{"text": "rash", "start": 104, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We show that the mouse gamma 2b heavy chain or human beta-globin 3' untranslated region can greatly enhance protein expression in myeloma cells transfected by genes coding for antibody-plasminogen activator fusion proteins.", "output": {"entities": {"gene": [{"text": "beta-globin", "start": 53, "end": 64}], "disease": [{"text": "myeloma", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The growth-inhibitory effects of GTA, compared to the histone deacetylase inhibitor Vorinostat (SAHA), were assessed in established human glioma cell lines (HOG and Hs683 oligodendroglioma, U87 and U251 glioblastoma) and primary tumor-derived glioma stem-like cells (GSCs), relative to an oligodendrocyte progenitor line (Oli-Neu), normal astrocytes, and neural stem cells (NSCs) in vitro.", "output": {"entities": {"gene": [{"text": "U87", "start": 190, "end": 193}], "disease": [{"text": "glioma", "start": 138, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, participants without any treatment utilization regarding gambling behavior showed higher DRD2-gene methylation levels compared to treatment-seeking participants.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 102, "end": 106}], "disease": [{"text": "gambling", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Other cytokine-phenotype associations included increased IL-8 and constitutional symptoms; IL-2R, IL-12, and transfusion need; IL-2R, IL-8, and leukocytosis; IP-10 and thrombocytopenia; HGF, MIG, IL-1RA, and marked splenomegaly; and IL-1RA, IL-2R, IP-10, MIP-1β, and JAK2V617F.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 57, "end": 61}], "disease": [{"text": "splenomegaly", "start": 215, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "EFEMP1, a recently discovered member of the fibulin family, was characterized with regard to these key elements of pancreatic cancer progression.", "output": {"entities": {"gene": [{"text": "EFEMP1", "start": 0, "end": 6}], "disease": [{"text": "pancreatic cancer", "start": 115, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EFEMP1", "start": 0, "end": 6}, "tail": {"text": "pancreatic cancer", "start": 115, "end": 132}}]}}, "schema": []}
{"input": "Glycogen storage disease type II (GSD II) is an autosomal recessive deficiency of acidalpha-1, 4-glucosidase (GAA) caused by mutations in the GAA gene located on human chromosome 17 (17q 25. 2-q 25. 3).", "output": {"entities": {"gene": [{"text": "GAA", "start": 110, "end": 113}], "disease": [{"text": "Glycogen storage disease type II", "start": 0, "end": 32}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GAA", "start": 110, "end": 113}, "tail": {"text": "Glycogen storage disease type II", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "The hypoxia-mediated increased bio-available HSP32 and HSP72 and favourable alterations in glutathione redox, prior to exercise commencing in EXB2 compared to EXB1, may acquiesce the disturbances to redox balance encountered during the second physiologically identical exercise bout.", "output": {"entities": {"gene": [{"text": "HSP72", "start": 55, "end": 60}], "disease": [{"text": "hypoxia", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "[Acute kidney failure and hemolytic anemia caused by erythrocytic G6PD dificit revealed by chloroquine administration].", "output": {"entities": {"gene": [{"text": "G6PD", "start": 66, "end": 70}], "disease": [{"text": "Acute kidney failure", "start": 1, "end": 21}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "G6PD", "start": 66, "end": 70}, "tail": {"text": "Acute kidney failure", "start": 1, "end": 21}}]}}, "schema": []}
{"input": "These data indicate that CRF receptor antagonists may be useful for the treatment of the disease states where CRF is elevated such as anxiety and depression, anorexia nervosa and stroke and that ligand inhibitors of CRF-BP may be used to elevate brain levels of' free' urocortin and other CRF-related peptides.", "output": {"entities": {"gene": [{"text": "CRF-BP", "start": 216, "end": 222}], "disease": [{"text": "depression", "start": 146, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF-BP", "start": 216, "end": 222}, "tail": {"text": "depression", "start": 146, "end": 156}}]}}, "schema": []}
{"input": "We have identified a novel reciprocal t (10; 17) (p11. 2; q23) in a case of low-grade myxoid fibrosarcoma, which may prove to be a new tumor specific chromosome aberration.", "output": {"entities": {"gene": [{"text": "p11", "start": 50, "end": 53}], "disease": [{"text": "chromosome aberration", "start": 150, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "We have also sequenced a selected material of 37 sporadic cases of more severe hypospadias for mutations in the androgen receptor AR, SRD5A2, and 17beta-hydroxysteroid dehydrogenase HSD17B3 genes and found only two previously described mutations, one in the AR and one in the SRD5A2 gene.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 112, "end": 129}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The data presented here indicate that BH3 domain mutation of the proapoptotic genes Bad, Bmf and Bcl-G is rare in laryngeal squamous cell carcinoma and may not contribute to the apoptosis-resistance mechanisms of laryngeal squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "Bcl-G", "start": 97, "end": 102}], "disease": [{"text": "laryngeal squamous cell carcinoma", "start": 114, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Hyperekplexia (MIM: 149400), or startle disease, is an autosomal dominant neurological disorder characterized by an extreme generalized stiffness immediately after birth, normalizing during the first years of life.", "output": {"entities": {"gene": [{"text": "MIM", "start": 15, "end": 18}], "disease": [{"text": "neurological disorder", "start": 74, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, while Hsp32 and Hsp70 expression was transient, Hsp25 demonstrated a sustained induction pattern, which may reflect an additional role of Hsp25 in subsequent remodeling events in the days following SE.", "output": {"entities": {"gene": [{"text": "Hsp32", "start": 21, "end": 26}], "disease": [{"text": "SE", "start": 213, "end": 215}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hsp32", "start": 21, "end": 26}, "tail": {"text": "SE", "start": 213, "end": 215}}]}}, "schema": []}
{"input": "QTL mapping together with previous genome-wide association study involving approximately 110, 000 gene-based SNPs in mild and severe beta (0)-thalassemia/Hb E patients revealed SNPs in HBS1L significantly associated with severity and Hb F levels.", "output": {"entities": {"gene": [{"text": "HBS1L", "start": 185, "end": 190}], "disease": [{"text": "mild", "start": 117, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The molecular basis for impaired hypoxia-induced VEGF expression in diabetic tissues.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 49, "end": 53}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Forced activation of Nrf2 by adenoviral over-expression of Nrf2 inhibited the increased ERK activity and recovered the blunted insulin sensitivity on glucose uptake in cardiomyocytes that were chronically treated with H (2) O (2).", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 21, "end": 25}], "disease": [{"text": "insulin sensitivity", "start": 127, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "To investigate blood apelin concentrations in patients with newly diagnosed and untreated type 2 diabetes mellitus (T2DM) who had no additional disorder and to investigate the association of apelin with adiponectin, body mass indexes (BMI) and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "apelin", "start": 21, "end": 27}], "disease": [{"text": "insulin sensitivity", "start": 244, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in the Chinese population.", "output": {"entities": {"gene": [{"text": "vitamin D receptor", "start": 20, "end": 38}], "disease": [{"text": "hypocitraturia", "start": 73, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The majority of the up-regulated genes characterized were found to have an established or possible role in the innate defense against infections; these genes included the LPLUNC1, LF, VCC1, TCN1, CD55, SERPINA3, MMP1, MMP3, IL1B, LCN2, SOCS3, GDF15, SLPI, CXCL13, and MUC1 genes.", "output": {"entities": {"gene": [{"text": "LCN2", "start": 230, "end": 234}], "disease": [{"text": "infections", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "We revealed that overexpression of HEXIM1 prevented hypoxia-induced expression of HIF-1α protein and its target genes including VEGF in the cultured cardiac myocytes and fibroblasts, and that cardiomyocyte-specific HEXIM1 transgenic mice repressed RV myocardial angiogenesis in hypoxia-induced PH model.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 128, "end": 132}], "disease": [{"text": "hypoxia", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Using a whole-exome sequencing approach, we identified recessive loss-of-function mutations within TTC25 in three individuals from two unrelated families affected by PCD.", "output": {"entities": {"gene": [{"text": "TTC25", "start": 99, "end": 104}], "disease": [{"text": "PCD", "start": 166, "end": 169}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTC25", "start": 99, "end": 104}, "tail": {"text": "PCD", "start": 166, "end": 169}}]}}, "schema": []}
{"input": "Multiple risk factors for HCC have been identified, including cirrhosis, male gender, increasing patient age, toxins, chronic viral hepatitis, and other specific liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 26, "end": 29}], "disease": [{"text": "liver diseases", "start": 162, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Females with at least one single A allele of TNF-α-308G > A had significantly high% BF and total skinfold, whereas higher values of waist hip ratio, total cholesterol, triglycerides and VLDL were observed in males.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 45, "end": 50}], "disease": [{"text": "waist hip ratio", "start": 132, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We investigated the potential role of RGS22 in human tumorigenesis.", "output": {"entities": {"gene": [{"text": "RGS22", "start": 38, "end": 43}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The research instruments used to phenotype patients were partly adopted from the US Collaborative Study on the Genetics of Alcoholism (COGA) which include anxiety-and depression-related scales from personality inventories such as the temperament and character inventory (TCI), the NEO-Five-Factor Inventory (NEO-FFI) and the Minnesota Multiphase Personality Inventory (MMPI-2).", "output": {"entities": {"gene": [{"text": "TCI", "start": 271, "end": 274}], "disease": [{"text": "anxiety", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "MDA-7/IL-24 reduced MCL-1 and BCL-XL and increased BAX levels via PERK signaling; cell-killing was mediated via the intrinsic pathway, and cell killing was primarily necrotic as judged using Annexin V/propidium iodide staining.", "output": {"entities": {"gene": [{"text": "BAX", "start": 51, "end": 54}], "disease": [{"text": "necrotic", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The regulation of extracellular signal-regulated kinase (ERK) oscillations in the context of wound healing and carcinogenesis have been investigated in premalignant and malignant JB6 mouse epidermal cells stimulated with basic fibroblast growth factor (bFGF) and 12-O-tetradecanoyl phorbol-13-acetate (TPA).", "output": {"entities": {"gene": [{"text": "TPA", "start": 302, "end": 305}], "disease": [{"text": "premalignant", "start": 152, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Reduced early hypoxic/ischemic brain damage is associated with increased GLT-1 levels in mice expressing mutant (P301L) human tau.", "output": {"entities": {"gene": [{"text": "GLT-1", "start": 73, "end": 78}], "disease": [{"text": "hypoxic", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "However, a G/T polymorphism predicting an Lys/Asn change (ET1/C198) strongly interacted (P < 0. 001) with body mass index in the determination of blood pressure levels.", "output": {"entities": {"gene": [{"text": "ET1", "start": 58, "end": 61}], "disease": [{"text": "blood pressure", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Rare mutations in the TREX1 gene, the major mammalian 3'-5' exonuclease, have been reported in sporadic SLE cases.", "output": {"entities": {"gene": [{"text": "TREX1 gene", "start": 22, "end": 32}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The data suggest that the inhibitory effect of CPT, a topoisomerase I inhibitor, on collagen synthesis may be an effective treatment for limiting fibrosis in keloid patients.", "output": {"entities": {"gene": [{"text": "CPT", "start": 47, "end": 50}], "disease": [{"text": "keloid", "start": 158, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging.", "output": {"entities": {"gene": [{"text": "PLA2G6", "start": 19, "end": 25}], "disease": [{"text": "adult-onset dystonia-parkinsonism", "start": 77, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLA2G6", "start": 19, "end": 25}, "tail": {"text": "adult-onset dystonia-parkinsonism", "start": 77, "end": 110}}]}}, "schema": []}
{"input": "Classification tree analyses suggested the presence of subgroups of individuals defined by smoking and NER genotypes that could have substantial increases in risk.", "output": {"entities": {"gene": [{"text": "NER", "start": 103, "end": 106}], "disease": [{"text": "smoking", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Urinary biomarkers in hexachloro-1: 3-butadiene-induced acute kidney injury in the female Hanover Wistar rat; correlation of & #945;-glutathione S-transferase, albumin and kidney injury molecule-1 with histopathology and gene expression.", "output": {"entities": {"gene": [{"text": "albumin", "start": 160, "end": 167}], "disease": [{"text": "acute kidney injury", "start": 56, "end": 75}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "albumin", "start": 160, "end": 167}, "tail": {"text": "acute kidney injury", "start": 56, "end": 75}}]}}, "schema": []}
{"input": "We studied a mouse model of myelin oligodendrocyte glycoprotein-induced EAE treated with phenytoin or carbamazepine.", "output": {"entities": {"gene": [{"text": "myelin oligodendrocyte glycoprotein", "start": 28, "end": 63}], "disease": [{"text": "EAE", "start": 72, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "myelin oligodendrocyte glycoprotein", "start": 28, "end": 63}, "tail": {"text": "EAE", "start": 72, "end": 75}}]}}, "schema": []}
{"input": "The other diabetes susceptibility haplotype DQA1 * 0501-DQB1 * 0201 was less frequent in anti-TPO + patients.", "output": {"entities": {"gene": [{"text": "TPO", "start": 94, "end": 97}], "disease": [{"text": "diabetes", "start": 10, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "In vivo studies with s. c. murine DBT glioblastoma tumors treated with transglutaminase 2 inhibitors combined with the chemotherapeutic agent, N-N'-bis (2-chloroethyl)-N-nitrosourea (BCNU), decreased tumor size based on weight by 50% compared with those treated with BCNU alone.", "output": {"entities": {"gene": [{"text": "transglutaminase 2", "start": 71, "end": 89}], "disease": [{"text": "glioblastoma", "start": 38, "end": 50}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "transglutaminase 2", "start": 71, "end": 89}, "tail": {"text": "glioblastoma", "start": 38, "end": 50}}]}}, "schema": []}
{"input": "Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 59, "end": 63}], "disease": [{"text": "Phacomatosis pigmentokeratotica", "start": 0, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRAS", "start": 59, "end": 63}, "tail": {"text": "Phacomatosis pigmentokeratotica", "start": 0, "end": 31}}]}}, "schema": []}
{"input": "Suppression of invasion in human U87 glioma cells by adenovirus-mediated co-transfer of TIMP-2 and PTEN gene.", "output": {"entities": {"gene": [{"text": "U87", "start": 33, "end": 36}], "disease": [{"text": "glioma", "start": 37, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Decreased intestinal CYP3A and P-glycoprotein activities in rats with adjuvant arthritis.", "output": {"entities": {"gene": [{"text": "P-glycoprotein", "start": 31, "end": 45}], "disease": [{"text": "adjuvant arthritis", "start": 70, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P-glycoprotein", "start": 31, "end": 45}, "tail": {"text": "adjuvant arthritis", "start": 70, "end": 88}}]}}, "schema": []}
{"input": "Indeed, we found that Ad-Delo3-RGD induced VEGF down regulation, which was even amplified under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 43, "end": 47}], "disease": [{"text": "hypoxic", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Crhr2-mutant mice are hypersensitive to stress and display increased anxiety-like behaviour.", "output": {"entities": {"gene": [{"text": "Crhr2", "start": 0, "end": 5}], "disease": [{"text": "anxiety", "start": 69, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Crhr2", "start": 0, "end": 5}, "tail": {"text": "anxiety", "start": 69, "end": 76}}]}}, "schema": []}
{"input": "On the contrary, expression of a GAL4-BD-HSF1 chimeric protein responded to hemin treatment as well as to heat shock, and transiently overexpressed HSF1 caused hemin-responsive induction of the reporter gene in a dose-dependent manner.", "output": {"entities": {"gene": [{"text": "GAL4", "start": 33, "end": 37}], "disease": [{"text": "shock", "start": 111, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia (1% O (2)) or treatment with hypoxia-mimicking CoCl (2) enhanced RSUME and HIF-1α expression, induced translocation of HIF-1α to the nuclei and stimulated VEGF-A production both in pituitary tumour cell lines and primary human pituitary adenoma cell cultures.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 163, "end": 169}], "disease": [{"text": "hypoxia", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Statistically significant odds ratios (ORs) of p16 hypermethylation were obtained from tumor tissues and non-tumorous liver tissues of HCC patients (OR 7. 04, 95% CI: 3. 87%-12. 78%, P < 0. 0001), tumor tissues of HCC patients and healthy liver tissues of patients with other diseases (OR 12. 17, 95% CI: 6. 64%-22. 31%, P < 0. 0001), tumor tissues of HCC patients and liver tissues of patients with non-tumorous liver diseases (OR 6. 82, 95% CI: 4. 31%-10. 79%, P < 0. 0001), and cirrhotic liver tissues and non-cirrhotic liver tissues (OR 4. 96, 95% CI: 1. 45%-16. 96%, P = 0. 01).", "output": {"entities": {"gene": [{"text": "HCC", "start": 135, "end": 138}], "disease": [{"text": "liver diseases", "start": 413, "end": 427}]}, "relations": {}}, "schema": []}
{"input": "There was higher risk to have the orofacial cleft in sons of mothers with CL or CLP or fathers with CL and daughters of mothers or fathers with CP.", "output": {"entities": {"gene": [{"text": "CLP", "start": 80, "end": 83}], "disease": [{"text": "orofacial cleft", "start": 34, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "However, nothing is known as yet whether aberrant hypermethylation occurs already in non-neoplastic liver cells from patients with hereditary haemochromatosis who have a clearly elevated risk for developing HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 207, "end": 210}], "disease": [{"text": "non-neoplastic", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Incidence and relevance of secondary chromosome abnormalities in childhood TEL/AML1 + acute lymphoblastic leukemia: an interphase FISH analysis.", "output": {"entities": {"gene": [{"text": "TEL", "start": 75, "end": 78}], "disease": [{"text": "chromosome abnormalities", "start": 37, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH.", "output": {"entities": {"gene": [{"text": "PROP1 gene", "start": 17, "end": 27}], "disease": [{"text": "pituitary hormone deficiency", "start": 45, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Treatment of CML mice with a 5-LO inhibitor also impaired the function of LSCs similarly by affecting LT-LSCs, and prolonged survival.", "output": {"entities": {"gene": [{"text": "5-LO", "start": 29, "end": 33}], "disease": [{"text": "CML", "start": 13, "end": 16}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "5-LO", "start": 29, "end": 33}, "tail": {"text": "CML", "start": 13, "end": 16}}]}}, "schema": []}
{"input": "The neural cell adhesion molecule (N-CAM) plays a significant role in the development of the nervous system.", "output": {"entities": {"gene": [{"text": "neural cell adhesion molecule", "start": 4, "end": 33}], "disease": [{"text": "nervous system", "start": 93, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.", "output": {"entities": {"gene": [{"text": "keratin 16", "start": 40, "end": 50}], "disease": [{"text": "pachyonychia congenita type 1", "start": 67, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 16", "start": 40, "end": 50}, "tail": {"text": "pachyonychia congenita type 1", "start": 67, "end": 96}}]}}, "schema": []}
{"input": "Cell culture studies found that conditioned medium from B16F10 melanoma cells increased ESAM expression in endothelial cells and promoted endothelial migration and tube formation.", "output": {"entities": {"gene": [{"text": "ESAM", "start": 88, "end": 92}], "disease": [{"text": "melanoma", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four children with unexplained IUGR (birth weight <-1. 5 SD) and short stature (<-2. 0 SD) were screened for abnormalities of the IGF-IR gene.", "output": {"entities": {"gene": [{"text": "IGF", "start": 137, "end": 140}], "disease": [{"text": "birth weight", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Additionally, CsA reduced phosphorylation and activity of focal adhesion kinase that was associated with rapid morphological alterations, rearrangement of lamellipodia and impairment of MT1-MMP translocation to membrane protrusions.", "output": {"entities": {"gene": [{"text": "focal adhesion kinase", "start": 58, "end": 79}], "disease": [{"text": "translocation", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "In unstable angina pectoris increased plasma IL-8 levels were evidenced in 25 of the 35 patients, after an average interval of 20 +/-1. 2 hours from the last spontaneous episode of angina pectoris.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 45, "end": 49}], "disease": [{"text": "unstable angina pectoris", "start": 3, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-8", "start": 45, "end": 49}, "tail": {"text": "unstable angina pectoris", "start": 3, "end": 27}}]}}, "schema": []}
{"input": "Immunohistochemistry and Western blotting consistently confirmed LSD1 overexpression in HCC tissues compared with adjacent non-neoplastic tissues (P < 0. 01).", "output": {"entities": {"gene": [{"text": "HCC", "start": 88, "end": 91}], "disease": [{"text": "non-neoplastic", "start": 123, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Changes in the expression of GLUTs and vascular endothelial growth factor (VEGF) during 12-, 18-, and 24 hours of severe hypoxia in vivo (xenografts) and in vitro (cell cultures) were recorded for both tumor lines.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 75, "end": 79}], "disease": [{"text": "hypoxia", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We suspected that the patient had USS and performed assays of ADAMT13 activity and its inhibitor, followed by ADAMTS13 gene analysis of the patient and his parents.", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 110, "end": 118}], "disease": [{"text": "USS", "start": 34, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS13", "start": 110, "end": 118}, "tail": {"text": "USS", "start": 34, "end": 37}}]}}, "schema": []}
{"input": "Different strategies have been followed for detection of these and other genomic changes in neuroblastoma including karyotyping, FISH, and LOH, each with its own limitations.", "output": {"entities": {"gene": [{"text": "FISH", "start": 129, "end": 133}], "disease": [{"text": "neuroblastoma", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Histology and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) revealed reduced microvessel density (MVD) and increased tumoral necrosis in 34. 5ENVE-treated tumor tissue compared to control OV-treated tumor tissue.", "output": {"entities": {"gene": [{"text": "MVD", "start": 115, "end": 118}], "disease": [{"text": "necrosis", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In summary, leptin treatment was not able to prevent the development of obesity and its associated abnormalities in transgenic mice with BAT deficiency.", "output": {"entities": {"gene": [{"text": "BAT", "start": 137, "end": 140}], "disease": [{"text": "abnormalities", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In this study, increased SHOX expression was demonstrated in idiopathic scoliosis (tall stature) and congenital scoliosis.", "output": {"entities": {"gene": [{"text": "SHOX", "start": 25, "end": 29}], "disease": [{"text": "tall stature", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We observed that both GFI1 variants maintain the same activity as transcriptional repressors but differ in their regulation by the AML1/ETO (RUNX1/RUNX1T1) fusion protein produced in AML patients with a t (8; 21) translocation.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 141, "end": 146}], "disease": [{"text": "translocation", "start": 213, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Moreover, lisinopril and nifedipine appear to be capable of reducing bcl-2 concentrations, with potentially beneficial effects on vascular modifications in patients with hypertension.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 69, "end": 74}], "disease": [{"text": "hypertension", "start": 170, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bcl-2", "start": 69, "end": 74}, "tail": {"text": "hypertension", "start": 170, "end": 182}}]}}, "schema": []}
{"input": "STOP (stable tubule only polypeptide) null mice display neurochemical and behavioral abnormalities that resemble several well-recognized features of schizophrenia.", "output": {"entities": {"gene": [{"text": "STOP", "start": 0, "end": 4}], "disease": [{"text": "schizophrenia", "start": 149, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STOP", "start": 0, "end": 4}, "tail": {"text": "schizophrenia", "start": 149, "end": 162}}]}}, "schema": []}
{"input": "It has also been documented that higher levels of vascular endothelial growth factor (VEGF), hypoxia induced factor (HIF), and ubiquitin are found in ocular hemangioblastomas.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 86, "end": 90}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Treatment of FU-SY-1 SS with G3139 reduced Bcl-2 mRNA and protein levels, which enhanced doxorubicin-induced cell killing.", "output": {"entities": {"gene": [{"text": "G3139", "start": 29, "end": 34}], "disease": [{"text": "SS", "start": 21, "end": 23}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "G3139", "start": 29, "end": 34}, "tail": {"text": "SS", "start": 21, "end": 23}}]}}, "schema": []}
{"input": "In contrast to IL-1 alpha, IL-1 beta, TNF-alpha, and TGF-beta, the addition of IL-6 to hypoxic Hep3B cells resulted in a dose-dependent stimulation of hypoxia-induced Epo production by as much as 81%.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 53, "end": 61}], "disease": [{"text": "hypoxia", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The phosphorylation status of VASP at serine 322 can be predictive for aggressiveness of invasive ductal carcinoma.", "output": {"entities": {"gene": [{"text": "VASP", "start": 30, "end": 34}], "disease": [{"text": "aggressiveness", "start": 71, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The current study examined the hypothesis that PPARγ attenuates hypoxia-induced endothelin-1 (ET-1) signaling to mediate these therapeutic effects.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 47, "end": 52}], "disease": [{"text": "hypoxia", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "A defect in klotho gene expression in the mouse results in a syndrome that resembles human ageing, including a short lifespan, infertility, arteriosclerosis, skin atrophy, osteoporosis and emphysema.", "output": {"entities": {"gene": [{"text": "klotho", "start": 12, "end": 18}], "disease": [{"text": "infertility", "start": 127, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "klotho", "start": 12, "end": 18}, "tail": {"text": "infertility", "start": 127, "end": 138}}]}}, "schema": []}
{"input": "Downregulation of tumor suppressor QKI in gastric cancer and its implication in cancer prognosis.", "output": {"entities": {"gene": [{"text": "QKI", "start": 35, "end": 38}], "disease": [{"text": "gastric cancer", "start": 42, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Also, patients with CCR5 wtDelta32 heterozygosity showed a slow progression both to AIDS CDC 1993 and to a CD4 cell count < 200 cells/microL.", "output": {"entities": {"gene": [{"text": "CCR5", "start": 20, "end": 24}], "disease": [{"text": "slow progression", "start": 59, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The bcl-2 proto-oncogene is centrally involved in the oncogenesis of human follicular lymphoma via a chromosomal translocation t (14; 18) (q32; q21) and is also expressed in the epithelial regenerative compartment or the basal crypts of the normal colon and small intestine.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 4, "end": 9}], "disease": [{"text": "chromosomal translocation", "start": 101, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "By comparing the mRNA expressions of normal esophageal tissue and human esophageal epithelial cells (HEEpiC), we found that among the 28 cases of esophageal squamous cell carcinoma, PAR1 (60%) and PAR2 (71%) were elevated in 17 and 20 cases, respectively, and PAR4 (68%) expression was lowered in 19 cases.", "output": {"entities": {"gene": [{"text": "PAR2", "start": 197, "end": 201}], "disease": [{"text": "esophageal", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The IGF-I transgene produced a marked brain overgrowth, and significantly accelerated tumor development, increasing the frequency of pre-neoplastic lesions as well as full medulloblastomas in Ptc1 +/-/IGF-I Tg mice.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 4, "end": 9}], "disease": [{"text": "overgrowth", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Several further manifestations are associated with B19 infections, such as arthralgias, arthritis, leucopenia and thrombocytopenia, anaemia and vasculitis and spontaneous abortion and hydrops fetalis in pregnant women.", "output": {"entities": {"gene": [{"text": "B19", "start": 51, "end": 54}], "disease": [{"text": "leucopenia", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported an overexpression of Smad1 in follicular lymphoma (FL) cells, which are characterized by the t (14; 18) bcl2/IgH translocation.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 49, "end": 54}], "disease": [{"text": "follicular lymphoma", "start": 58, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We conclude that BAL cells, especially alveolar macrophages, are activated in the alveolar inflammation of active TB and spontaneously release increased quantities of IL-1 beta, IL-6, and TNF-alpha, and that these cytokines are likely to be involved in directing granuloma formation and control of M. tuberculosis infection.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 178, "end": 182}], "disease": [{"text": "tuberculosis infection", "start": 301, "end": 323}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha induced an early upregulation of ADAM17 in T84 cells, whereas PMNL adhesion, H (2) O (2), or epithelial tight junction opening alone did not affect the amount of ADAM17.", "output": {"entities": {"gene": [{"text": "ADAM17", "start": 43, "end": 49}], "disease": [{"text": "adhesion", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Von Hippel-Lindau (VHL) disease is a heritable tumor susceptibility syndrome caused by germline mutations in the VHL gene.", "output": {"entities": {"gene": [{"text": "VHL", "start": 19, "end": 22}], "disease": [{"text": "VHL", "start": 113, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VHL", "start": 19, "end": 22}, "tail": {"text": "VHL", "start": 113, "end": 116}}]}}, "schema": []}
{"input": "Due to the lack of hypoxia effects on MME expression in NSCLC cell lines in contrast to carcinoma-associated fibroblasts, a direct up-regulation of stroma fibroblast MME expression under hypoxia might contribute to enhanced aggressiveness of hypoxic cancers.", "output": {"entities": {"gene": [{"text": "MME", "start": 38, "end": 41}], "disease": [{"text": "aggressiveness", "start": 224, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to evaluate the potential utility of mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) to detect hemochromatosis.", "output": {"entities": {"gene": [{"text": "MCH", "start": 112, "end": 115}], "disease": [{"text": "mean corpuscular volume", "start": 49, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Local expression of ACE, AT1R and AT2R was investigated immunohistochemically in non-lesional tissue, primary tumors and lymph node metastases from 45 gastric cancer patients.", "output": {"entities": {"gene": [{"text": "AT1R", "start": 25, "end": 29}], "disease": [{"text": "metastases", "start": 132, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AT1R", "start": 25, "end": 29}, "tail": {"text": "metastases", "start": 132, "end": 142}}]}}, "schema": []}
{"input": "The fat mass and obesity associated gene (FTO) polymorphisms have been implicated in the susceptibility of overweight/obesity in children and adolescents.", "output": {"entities": {"gene": [{"text": "FTO", "start": 42, "end": 45}], "disease": [{"text": "overweight", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we underline the difficulties of differential diagnosis in some patients whose clinical appearance does not fit the classical malignant or benign picture and recommend that CTSK gene be included in the molecular diagnosis of high bone density conditions.", "output": {"entities": {"gene": [{"text": "CTSK gene", "start": 188, "end": 197}], "disease": [{"text": "bone density", "start": 245, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "Primary erythrocytosis is associated with mutations in the EPOR gene, secondary CE can de due to mutations that stabilize the hemoglobin in the oxygenated form or to mutations in the genes that control the transcriptional activation of the EPO gene-VHL, EGLN1, EPAS1.", "output": {"entities": {"gene": [{"text": "EPO gene", "start": 240, "end": 248}], "disease": [{"text": "hemoglobin", "start": 126, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Exacerbating this, the PAK1 (-/-) knock-out mice also exhibited peripheral insulin resistance.", "output": {"entities": {"gene": [{"text": "PAK1", "start": 23, "end": 27}], "disease": [{"text": "insulin resistance", "start": 75, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We have aimed to demonstrate the impact of TGF-β1 and fluvastatin on human breast cancer (MCF-7) and human hepatocellular carcinoma (Hep3B) cell cultures via Real-Time Cell Analyzer (RTCA) and to test the expression levels of some genes (NDRG1, SGK1, TWIST1, AMPKA2) and to compare their gene expression levels according to RTCA results.", "output": {"entities": {"gene": [{"text": "RTCA", "start": 183, "end": 187}], "disease": [{"text": "hepatocellular carcinoma", "start": 107, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that the recently identified exosome-associated protein C1D is a major autoantigen in patients with the PM-scleroderma overlap syndrome and suggest that the use of recombinant C1D as an autoantibody target may aid in diagnosis of the PM-scleroderma overlap syndrome.", "output": {"entities": {"gene": [{"text": "C1D", "start": 80, "end": 83}], "disease": [{"text": "overlap syndrome", "start": 143, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to examine the biological significance of GNG2 in human malignant melanoma cells.", "output": {"entities": {"gene": [{"text": "GNG2", "start": 72, "end": 76}], "disease": [{"text": "malignant melanoma", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The clinical relevance of these findings was verified in a study of 152 lupus patients, in which we showed that lupus nTreg dysfunction is not due to intrinsic defects but is rather induced by C3b stimulation of CD46 and IFN-α and that these immune components of inflammation are directly associated with active lupus.", "output": {"entities": {"gene": [{"text": "CD46", "start": 212, "end": 216}], "disease": [{"text": "inflammation", "start": 263, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "The cognitive function, serum ApoE, and peripheral mononuclear blood cell ApoE mRNA expression of patients with PSD were compared to age-matched control patients with stroke and healthy volunteers.", "output": {"entities": {"gene": [{"text": "PSD", "start": 112, "end": 115}], "disease": [{"text": "stroke", "start": 167, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Terminal NK cell maturation is controlled by concerted actions of T-bet and Zeb2 and is essential for melanoma rejection.", "output": {"entities": {"gene": [{"text": "T-bet", "start": 66, "end": 71}], "disease": [{"text": "melanoma", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The DNA polB expression was found in 8 of 10 HPV16-positive cervical intraepithelial neoplasia grade III (CIN III) cases, while was only found in 3 of 11 HPV6-positive condyloma accuminatum cases, but was negative in all chronic cervicitis cases.", "output": {"entities": {"gene": [{"text": "polB", "start": 8, "end": 12}], "disease": [{"text": "chronic cervicitis", "start": 221, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Of note, connecting genes in a single pathway (leukotriene), of a protein and its ligand (LTAalpha) or from one disease to another [age-related macular degeneration (AMD); complement factor H (CFH)], or even three disease characterized by inflammation (MHC2) have now been reported.", "output": {"entities": {"gene": [{"text": "CFH", "start": 193, "end": 196}], "disease": [{"text": "inflammation", "start": 239, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Only prolonged inhibition of HER3 and EGFR, achievable by dual blockade with trastuzumab and lapatinib or irreversible HER2 inhibition by single-agent afatinib, led to regression of HER2-amplified gastrointestinal carcinomas.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 38, "end": 42}], "disease": [{"text": "regression", "start": 168, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Abnormalities of PSD95-like molecules and other intracellular signaling machinery may contribute to dysregulated communication between multiple neurotransmitter systems (such as glutamatergic and dopaminergic systems) that are potentially involved in the neurobiology of schizophrenia and affective disorders.", "output": {"entities": {"gene": [{"text": "PSD95", "start": 17, "end": 22}], "disease": [{"text": "affective disorders", "start": 289, "end": 308}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD95", "start": 17, "end": 22}, "tail": {"text": "affective disorders", "start": 289, "end": 308}}]}}, "schema": []}
{"input": "Morpholino-oligonucleotide-mediated knockdown of unc45b results in paralysis and cardiac dysfunction.", "output": {"entities": {"gene": [{"text": "unc45b", "start": 49, "end": 55}], "disease": [{"text": "paralysis", "start": 67, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "unc45b", "start": 49, "end": 55}, "tail": {"text": "paralysis", "start": 67, "end": 76}}]}}, "schema": []}
{"input": "Dysferlin-deficient cells show abnormalities in vesicular traffic and membrane repair although onset of symptoms is not commonly seen until the late teenage years and is often associated with subacute onset and marked muscle inflammation.", "output": {"entities": {"gene": [{"text": "Dysferlin", "start": 0, "end": 9}], "disease": [{"text": "abnormalities", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The attenuation effect of sevoflurane on hypoxia-induced VEGF level could be blocked by 5-Aza.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 57, "end": 61}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses).", "output": {"entities": {"gene": [{"text": "MIM", "start": 36, "end": 39}], "disease": [{"text": "exostoses", "start": 20, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that Pro358Leu in EPO is strongly involved in the development of cedar pollinosis.", "output": {"entities": {"gene": [{"text": "EPO", "start": 40, "end": 43}], "disease": [{"text": "pollinosis", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Peroxiredoxin-2 protects against 6-hydroxydopamine-induced dopaminergic neurodegeneration via attenuation of the apoptosis signal-regulating kinase (ASK1) signaling cascade.", "output": {"entities": {"gene": [{"text": "ASK1", "start": 149, "end": 153}], "disease": [{"text": "neurodegeneration", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In other experiments, overexpression of ENC1 in HT-29 colon cancer cells suppressed the usual increase of two differentiation markers, in response to treatment with sodium butyrate, a differentiation-inducible agent.", "output": {"entities": {"gene": [{"text": "ENC1", "start": 40, "end": 44}], "disease": [{"text": "colon cancer", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Colon cancers with defective DNA mismatch repair (MMR) have peculiar molecular, pathologic, and clinical features, including high-level microsatellite instability, conspicuous lymphocytic infiltration, preferential location in the proximal colon, and better prognosis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 50, "end": 53}], "disease": [{"text": "microsatellite instability", "start": 136, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "In pemphigus vulgaris (PV) and pemphigus foliaceus (PF), most of the autoantibodies are directed against the extracellular domains of desmoglein 1 (Dsg1) or Dsg3, and those antibodies are proved to play a pathogenic role in blister formation in the skin and mucous membranes.", "output": {"entities": {"gene": [{"text": "Dsg1", "start": 148, "end": 152}], "disease": [{"text": "blister", "start": 224, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Trx-1 transfection also caused a significant increase in the protein products of hypoxia-responsive genes, including vascular endothelial growth factor (VEGF) and nitric oxide synthase 2 in a number of different cell lines (MCF-7 human breast and HT29 human colon carcinomas and WEHI7. 2 mouse lymphoma cells) under both normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 153, "end": 157}], "disease": [{"text": "hypoxic", "start": 334, "end": 341}]}, "relations": {}}, "schema": []}
{"input": "The NOD2 genotype was not correlated with growth retardation or growth failure.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 4, "end": 8}], "disease": [{"text": "growth retardation", "start": 42, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the interaction of the MDM2 SNP285 and 309 in a large series of 195 LFS patients.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 54, "end": 58}], "disease": [{"text": "LFS", "start": 99, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MDM2", "start": 54, "end": 58}, "tail": {"text": "LFS", "start": 99, "end": 102}}]}}, "schema": []}
{"input": "The role of GLP-1 R variants on body weight response after dietary intervention is unclear.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 12, "end": 17}], "disease": [{"text": "body weight", "start": 32, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Silibinin inhibits hypoxia-inducible factor-1alpha and mTOR/p70S6K/4E-BP1 signalling pathway in human cervical and hepatoma cancer cells: implications for anticancer therapy.", "output": {"entities": {"gene": [{"text": "4E-BP1", "start": 67, "end": 73}], "disease": [{"text": "hepatoma", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Obesity in a model of gpx4 haploinsufficiency uncovers a causal role for lipid-derived aldehydes in human metabolic disease and cardiomyopathy.", "output": {"entities": {"gene": [{"text": "gpx4", "start": 22, "end": 26}], "disease": [{"text": "cardiomyopathy", "start": 128, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates.", "output": {"entities": {"gene": [{"text": "Akt1", "start": 97, "end": 101}], "disease": [{"text": "Obese", "start": 0, "end": 5}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Akt1", "start": 97, "end": 101}, "tail": {"text": "Obese", "start": 0, "end": 5}}]}}, "schema": []}
{"input": "The mRNA expression of UBAC2 transcript variant 1 was significantly decreased in PBMCs and skin of BD patients as compared with controls (P = 0. 025; P = 0. 047, respectively).", "output": {"entities": {"gene": [{"text": "UBAC2", "start": 23, "end": 28}], "disease": [{"text": "BD", "start": 99, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBAC2", "start": 23, "end": 28}, "tail": {"text": "BD", "start": 99, "end": 101}}]}}, "schema": []}
{"input": "A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.", "output": {"entities": {"gene": [{"text": "holocarboxylase synthetase", "start": 43, "end": 69}], "disease": [{"text": "holocarboxylase synthetase deficiency", "start": 117, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "holocarboxylase synthetase", "start": 43, "end": 69}, "tail": {"text": "holocarboxylase synthetase deficiency", "start": 117, "end": 154}}]}}, "schema": []}
{"input": "[A new enzymopenic hemolytic anemia with glutathione reductase deficiency].", "output": {"entities": {"gene": [{"text": "glutathione reductase", "start": 41, "end": 62}], "disease": [{"text": "hemolytic anemia", "start": 19, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glutathione reductase", "start": 41, "end": 62}, "tail": {"text": "hemolytic anemia", "start": 19, "end": 35}}]}}, "schema": []}
{"input": "The chromosome break points of the t (8; 21) (q21. 3; q22. 12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein.", "output": {"entities": {"gene": [{"text": "AML1", "start": 154, "end": 158}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.", "output": {"entities": {"gene": [{"text": "GTF2i", "start": 15, "end": 20}], "disease": [{"text": "autism spectrum disorders", "start": 74, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GTF2i", "start": 15, "end": 20}, "tail": {"text": "autism spectrum disorders", "start": 74, "end": 99}}]}}, "schema": []}
{"input": "In this report, we describe a mutational analysis of IkappaBalpha for primary tumor cells obtained from patients with a variety of hematologic malignancies (acute myelogenous leukemia, chronic myelogenous leukemia, myelodysplastic syndrome, hairy cell leukemia, adult T-cell leukemia, and mantle cell lymphoma) as well as 15 leukemia, lymphoma, and myeloma cell lines (HL60, U937, HEL, K562, NALM1, Jurkat, JM, MOLT4, Raji, KS1, OKM2T, OKM3T, F6T, Su9T01, and C2-2).", "output": {"entities": {"gene": [{"text": "IkappaBalpha", "start": 53, "end": 65}], "disease": [{"text": "hairy cell leukemia", "start": 241, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Cells cultured from these adenoma were subject to computerized real time intracellular Ca2 + i imaging at a single cell level.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 87, "end": 90}], "disease": [{"text": "adenoma", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.", "output": {"entities": {"gene": [{"text": "alpha-galactosidase A", "start": 32, "end": 53}], "disease": [{"text": "Fabry disease", "start": 94, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-galactosidase A", "start": 32, "end": 53}, "tail": {"text": "Fabry disease", "start": 94, "end": 107}}]}}, "schema": []}
{"input": "Synaptophysin (SYN) consistently declines with age and is further reduced with sporadic AD.", "output": {"entities": {"gene": [{"text": "SYN", "start": 15, "end": 18}], "disease": [{"text": "sporadic", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Our ChIP results showed that hypoxia-induced HepG2 and Hep3B cell proliferation is mediated by JMJD1A upregulation and subsequent decrease in methylation in the ADM promoter region.", "output": {"entities": {"gene": [{"text": "ADM", "start": 161, "end": 164}], "disease": [{"text": "hypoxia", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Foxa2 regulates a complex pulmonary program of epithelial cell maturation required for transition to air breathing at birth.", "output": {"entities": {"gene": [{"text": "Foxa2", "start": 0, "end": 5}], "disease": [{"text": "breathing", "start": 105, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "However, overexpression of individual miRNAs from this locus, miR-19a or miR-92a, results in B-cell hyperplasia and erythroleukemia, respectively.", "output": {"entities": {"gene": [{"text": "19a", "start": 66, "end": 69}], "disease": [{"text": "hyperplasia", "start": 100, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Logistic regression, log-rank testing, and multivariable Cox regression were used to investigate the association between (18) F-FDG uptake and tumor response and survival.", "output": {"entities": {"gene": [{"text": "FDG", "start": 128, "end": 131}], "disease": [{"text": "regression", "start": 9, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Severe deficiency of glucocerebrosidase caused by severe mutations is additionally associated with neurological manifestations in the less common type 2 and type 3 GD subtypes.", "output": {"entities": {"gene": [{"text": "glucocerebrosidase", "start": 21, "end": 39}], "disease": [{"text": "neurological manifestations", "start": 99, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Neonates with generalized hypotonia, a cleft palate, inguinal herniae, musculoskeletal features such as camptodactyly and talipes equinovarus, and a cardiac murmur should be suspected to have LDS, and extensive cardiovascular evaluation and testing of TGFBR1 and TGFBR2 are recommended.", "output": {"entities": {"gene": [{"text": "TGFBR1", "start": 252, "end": 258}], "disease": [{"text": "generalized hypotonia", "start": 14, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Toxicity of these two prodrugs was evaluated in culture in parental and genetically modified rodent (9L) and human (U87) glioma cell lines stably expressing CYP4B1, and in vivo in a subcutaneous 9L tumor model in nude mice.", "output": {"entities": {"gene": [{"text": "U87", "start": 116, "end": 119}], "disease": [{"text": "glioma", "start": 121, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In addition, the proband demonstrated cancer susceptibility, a phenotype rarely described for LMNA-based progeria disorders.", "output": {"entities": {"gene": [{"text": "LMNA", "start": 94, "end": 98}], "disease": [{"text": "progeria", "start": 105, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNA", "start": 94, "end": 98}, "tail": {"text": "progeria", "start": 105, "end": 113}}]}}, "schema": []}
{"input": "Navajo microvillous inclusion disease is due to a mutation in MYO5B.", "output": {"entities": {"gene": [{"text": "MYO5B", "start": 62, "end": 67}], "disease": [{"text": "microvillous inclusion disease", "start": 7, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYO5B", "start": 62, "end": 67}, "tail": {"text": "microvillous inclusion disease", "start": 7, "end": 37}}]}}, "schema": []}
{"input": "Ca2 + toxicity due to reverse Na +/Ca2 + exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1. 7 mutation.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 0, "end": 3}], "disease": [{"text": "neuropathy", "start": 118, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether these proteins also accumulate at an early stage of neuropathogenesis in young DS individuals without neuropathology and in early-onset familial forms of AD (FAD), as well as in other tauopathies, such as Pick disease (PiD) or progressive supranuclear palsy (PSP).", "output": {"entities": {"gene": [{"text": "FAD", "start": 182, "end": 185}], "disease": [{"text": "tauopathies", "start": 208, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Deficient mismatch repair (dMMR) function manifests as immunohistochemically detectable absence of one or more MMR proteins and microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 28, "end": 31}], "disease": [{"text": "microsatellite instability", "start": 128, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Comparison of clinico-biological characteristics of patients with and without thrombosis revealed in the former group higher median white blood cell (WBC) count (17 x 10 (9)/l, range 1. 2-56, P = 0. 002), prevalence of the bcr3 transcript type (72 vs 48%, P = 0. 01), of FLT3-ITD (64 vs 28%, P = 0. 02), CD2 (P = 0. 0001) and CD15 (P = 0. 01) expression.", "output": {"entities": {"gene": [{"text": "bcr3", "start": 223, "end": 227}], "disease": [{"text": "thrombosis", "start": 78, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bcr3", "start": 223, "end": 227}, "tail": {"text": "thrombosis", "start": 78, "end": 88}}]}}, "schema": []}
{"input": "Cx43, but not Cx32, suppressed C6 glioma cell growth.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 14, "end": 18}], "disease": [{"text": "glioma", "start": 34, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In Tg-SPF mice, the tumor score was higher than in Tg-GF mice (p < 0. 01), but no colorectal tumors were detected in non-Tg groups of SPF, and the tumor incidence was remarkably low in non-Tg-GB-4 mice.", "output": {"entities": {"gene": [{"text": "SPF", "start": 6, "end": 9}], "disease": [{"text": "colorectal tumors", "start": 82, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "DENN/MADD, a multifunctional domain protein expressed in neurons, interacts with both the p55 TNF receptor (TNFR) type 1 and JNK3, placing it at a critical juncture in regulating signaling of neurodegeneration.", "output": {"entities": {"gene": [{"text": "DENN", "start": 0, "end": 4}], "disease": [{"text": "neurodegeneration", "start": 192, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we sought to rigorously examine the PTH 3'-UTR in patients with primary and secondary parathyroid disorders, including primary parathyroid hyperplasia, secondary parathyroid hyperplasia, sporadic parathyroid adenoma and familial hypoparathyroidism of unknown genetic basis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 54, "end": 57}], "disease": [{"text": "secondary", "start": 87, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Recipients with renal diseases with potential to recur (membranous glomerulonephritis (MGN), membrano-proliferative glomerulonephritis (MPGN), focal and segmental glomerulonephritis (FSGN), polyarteritis nodosa (PAN), rapid progressive glomerulonephritis (RPGN), Henoch-Schoenlein purpura (HSP), diabetes mellitus (DM), interstitial nephritis, systemic lupus erythematosus (SLE) and chronic glomerulonephritis (CGN)) faired worse as a group than recipients with hypertensive nephrosclerosis (HTN), autosomal dominant polycystic kidney disease (ADPKD), Alport' s, reflux or congenital dysplasia (68 vs. 96% at 10 yr, p = 0. 0009).", "output": {"entities": {"gene": [{"text": "CGN", "start": 411, "end": 414}], "disease": [{"text": "diabetes mellitus", "start": 296, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Erbb2 alters the expression of regulatory genes controlling inflammation, angiogenesis, cell division, apoptosis, cell adhesion, and migration following UV irradiation.", "output": {"entities": {"gene": [{"text": "Erbb2", "start": 0, "end": 5}], "disease": [{"text": "inflammation", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Mutation of the p51/p63 gene is associated with blastic crisis in chronic myelogenous leukemia.", "output": {"entities": {"gene": [{"text": "p63", "start": 20, "end": 23}], "disease": [{"text": "chronic myelogenous leukemia", "start": 66, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In the absence of colitis, anxiety-like behaviour was increased by deletion of NPY but not PYY in a test-and sex-dependent manner, while depression-like behaviour was enhanced in NPY (-/-) and PYY (-/-) mice of either sex.", "output": {"entities": {"gene": [{"text": "PYY", "start": 91, "end": 94}], "disease": [{"text": "colitis", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.", "output": {"entities": {"gene": [{"text": "PLP", "start": 97, "end": 100}], "disease": [{"text": "Pelizaeus-Merzbacher disease", "start": 9, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLP", "start": 97, "end": 100}, "tail": {"text": "Pelizaeus-Merzbacher disease", "start": 9, "end": 37}}]}}, "schema": []}
{"input": "Conversely, FGFR2-IIIb expression in epithelial cells yielded higher FGF4/FGF7 expression that, in the presence of FGFR2-IIIc-expressing fibroblasts, enhanced tumor progression.", "output": {"entities": {"gene": [{"text": "FGF4", "start": 69, "end": 73}], "disease": [{"text": "tumor progression", "start": 159, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Together, these findings consistently indicate that PPAR-beta may facilitate differentiation and inhibit the cell-fibronectin adhesion of colon cancer, having a role as an inhibitor in the carcinogenesis and progression of colorectal cancer.", "output": {"entities": {"gene": [{"text": "PPAR-beta", "start": 52, "end": 61}], "disease": [{"text": "adhesion", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Several mRNAs, such as those encoding guanine nucleotide-binding protein Gs (alpha subunit), leukocyte adhesion protein (LFA1-beta), nuclear factor NF45, homeobox protein Hox-A1, and beta-catenin were detected in increased levels in cervical cancer.", "output": {"entities": {"gene": [{"text": "NF45", "start": 148, "end": 152}], "disease": [{"text": "cervical cancer", "start": 233, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Neutrophil numbers increased in all but two patients and in an extended urine cytokine/chemokine analysis (31 proteins), the chemoattractants IL-8 and GRO-α, RANTES, Eotaxin-1 and MCP-1, the T cell chemoattractant and antibacterial peptide IP-10, inflammatory regulators IL-1-α and sIL-1RA and the T lymphocyte/dendritic cell product sIL-2Rα were detected and variably increased, compared to sterile samples.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 180, "end": 185}], "disease": [{"text": "sterile", "start": 392, "end": 399}]}, "relations": {}}, "schema": []}
{"input": "Sixty eight colorectal cancers (22 RER + sporadic cancers, 32 RER-sporadic cancers and 14 ulcerative colitis associated cancers) were studied using immunohistochemistry and for allele loss at the HSECAD locus.", "output": {"entities": {"gene": [{"text": "RER", "start": 35, "end": 38}], "disease": [{"text": "ulcerative colitis", "start": 90, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Here we have investigated the effect of nine PDS missense mutations on pendrin localization and iodide transport with the view to understanding their functional impact.", "output": {"entities": {"gene": [{"text": "pendrin", "start": 71, "end": 78}], "disease": [{"text": "PDS", "start": 45, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "pendrin", "start": 71, "end": 78}, "tail": {"text": "PDS", "start": 45, "end": 48}}]}}, "schema": []}
{"input": "In the muscle of patients with HTLV-I-associated myopathy, the predominant endomysial cells surrounding healthy muscle fibers were CD8 + cells followed by CD4 + cells and macrophages.", "output": {"entities": {"gene": [{"text": "CD4", "start": 155, "end": 158}], "disease": [{"text": "myopathy", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The anti or pro-atherogenic role of hepatic lipase is likely to be modulated by the concurrent presence of other lipid abnormalities (i. e.", "output": {"entities": {"gene": [{"text": "hepatic lipase", "start": 36, "end": 50}], "disease": [{"text": "abnormalities", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In severe dengue fever (DF), the levels of DENV non-structural-1 protein and of the products of complement activation, including C3a, C5a and SC5b-9, are higher before vascular leakage occurs, supporting the hypothesis that complement activation contributes to unfavourable outcomes.", "output": {"entities": {"gene": [{"text": "C3a", "start": 129, "end": 132}], "disease": [{"text": "severe dengue", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.", "output": {"entities": {"gene": [{"text": "ROBO4", "start": 0, "end": 5}], "disease": [{"text": "thoracic aortic aneurysm", "start": 67, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ROBO4", "start": 0, "end": 5}, "tail": {"text": "thoracic aortic aneurysm", "start": 67, "end": 91}}]}}, "schema": []}
{"input": "In HCC cells, starvation also activated the phosphatidylinositol 3-kinase (PI3K)/AKT pathway, which blocks the translocation of DRAM to mitochondria through the binding of p-AKT to DRAM in the cytoplasm.", "output": {"entities": {"gene": [{"text": "AKT", "start": 81, "end": 84}], "disease": [{"text": "translocation", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Serum fasting plasma glucose, postprandial plasma glucose, glycated haemoglobin (HbA (1c)), fasting serum insulin, postprandial serum insulin (PINS), triglycerol (TG), cholesterol, homeostasis model assessment for insulin resistance, leptin and adiponectin in all T2DM patients were determined before and after rosiglitazone treatment.", "output": {"entities": {"gene": [{"text": "PINS", "start": 143, "end": 147}], "disease": [{"text": "insulin resistance", "start": 214, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Patients were tested for HER2 status (IHC score of 3 + or FISH ratio of ≥ 2. 2) by immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), DNA copy number, mRNA expression, and mutation status in patients with metastatic urothelial carcinoma (UC), and its impact on survival.", "output": {"entities": {"gene": [{"text": "FISH", "start": 58, "end": 62}], "disease": [{"text": "metastatic urothelial carcinoma", "start": 225, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "Homozygous Megf7-deficient mice are growth-retarded, with fully penetrant polysyndactyly in their fore and hind limbs, and partially penetrant abnormalities of tooth development.", "output": {"entities": {"gene": [{"text": "Megf7", "start": 11, "end": 16}], "disease": [{"text": "polysyndactyly", "start": 74, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Megf7", "start": 11, "end": 16}, "tail": {"text": "polysyndactyly", "start": 74, "end": 88}}]}}, "schema": []}
{"input": "In models that adjusted for traditional CVD risk factors and medication use, we generally found no association between reports of r/e discrimination and aortic wall thickness, aortic plaque area, prevalent CAC, or elevated CRP in any of the r/e groups.", "output": {"entities": {"gene": [{"text": "CAC", "start": 206, "end": 209}], "disease": [{"text": "plaque", "start": 183, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "The behavioral phenotype of pituitary adenylate-cyclase activating polypeptide-deficient mice in anxiety and depression tests is accompanied by blunted c-Fos expression in the bed nucleus of the stria terminalis, central projecting Edinger-Westphal nucleus, ventral lateral septum, and dorsal raphe nucleus.", "output": {"entities": {"gene": [{"text": "pituitary adenylate-cyclase activating polypeptide", "start": 28, "end": 78}], "disease": [{"text": "depression", "start": 109, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pituitary adenylate-cyclase activating polypeptide", "start": 28, "end": 78}, "tail": {"text": "depression", "start": 109, "end": 119}}]}}, "schema": []}
{"input": "Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.", "output": {"entities": {"gene": [{"text": "RDH12", "start": 26, "end": 31}], "disease": [{"text": "leber congenital amaurosis", "start": 46, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDH12", "start": 26, "end": 31}, "tail": {"text": "leber congenital amaurosis", "start": 46, "end": 72}}]}}, "schema": []}
{"input": "These results provide direct evidence that STAT3 transduces not only a hypertrophic signal but also a protective signal against Dox-induced cardiomyopathy by inhibiting reduction of cardiac contractile genes and inducing cardiac protective factors.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 43, "end": 48}], "disease": [{"text": "cardiomyopathy", "start": 140, "end": 154}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STAT3", "start": 43, "end": 48}, "tail": {"text": "cardiomyopathy", "start": 140, "end": 154}}]}}, "schema": []}
{"input": "Of all the inhibitors tested, we found that Marimastat not only inhibits the expression of MMP14 in U87 and U251 glioma cells, but also induces cell cycle arrest.", "output": {"entities": {"gene": [{"text": "U87", "start": 100, "end": 103}], "disease": [{"text": "glioma", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Little is known about the impact of severity of hypertension on the association of genes with high blood pressure, which may cause the inconsistently reported associations of peroxisome proliferator-activated receptor-gamma coactivator-1alpha (PGC-1alpha) gene with blood pressure.", "output": {"entities": {"gene": [{"text": "PGC-1alpha", "start": 244, "end": 254}], "disease": [{"text": "blood pressure", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Of 2, 308 MRISC participants, breast cancer was detected in 93 (97 breast cancers), who received MRI < 2 years before breast cancer diagnosis; 33 BRCA1 mutation carriers, 18 BRCA2 mutation carriers, and 42 with familial risk.", "output": {"entities": {"gene": [{"text": "MRI", "start": 10, "end": 13}], "disease": [{"text": "breast cancer diagnosis", "start": 118, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The results lend some support for an influence of the studied polymorphisms on the susceptibility for autism, but argue against the possibility that mutations in the AR gene are common in subjects with this condition.", "output": {"entities": {"gene": [{"text": "AR", "start": 166, "end": 168}], "disease": [{"text": "autism", "start": 102, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AR", "start": 166, "end": 168}, "tail": {"text": "autism", "start": 102, "end": 108}}]}}, "schema": []}
{"input": "To test the effect of AhR activation on metastasis, 4T1. 2 mammary tumor cells were injected into the mammary gland fat pad of syngeneic Balb/c mice treated with 2, 3, 7, 8-tetrachlorodibenzo-p-dioxin (TCDD).", "output": {"entities": {"gene": [{"text": "AhR", "start": 22, "end": 25}], "disease": [{"text": "metastasis", "start": 40, "end": 50}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AhR", "start": 22, "end": 25}, "tail": {"text": "metastasis", "start": 40, "end": 50}}]}}, "schema": []}
{"input": "We also report the characterisation of five new microsatellite markers and one SNP in the EPM2A gene and describe the haplotypic associations of alleles at these sites in normal and EPM2A chromosomes.", "output": {"entities": {"gene": [{"text": "EPM2A", "start": 90, "end": 95}], "disease": [{"text": "EPM2A", "start": 182, "end": 187}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPM2A", "start": 90, "end": 95}, "tail": {"text": "EPM2A", "start": 182, "end": 187}}]}}, "schema": []}
{"input": "Epigenetic induction of epithelial to mesenchymal transition by LCN2 mediates metastasis and tumorigenesis, which is abrogated by NF-κB inhibitor BRM270 in a xenograft model of lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "LCN2", "start": 64, "end": 68}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 68, "end": 85}], "disease": [{"text": "partial androgen insensitivity syndrome", "start": 108, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "androgen receptor", "start": 68, "end": 85}, "tail": {"text": "partial androgen insensitivity syndrome", "start": 108, "end": 147}}]}}, "schema": []}
{"input": "Overall, based on the synthesis of observational studies, the evidence for an association between F12-4C > T and venous thromboembolism and myocardial infarction is weak.", "output": {"entities": {"gene": [{"text": "F12", "start": 98, "end": 101}], "disease": [{"text": "myocardial infarction", "start": 140, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "HDV subverts the effect of IFN-alpha by blocking Tyk2 activation, thereby resulting in selective impairment of activation and translocation to the nucleus of STAT1 and STAT2.", "output": {"entities": {"gene": [{"text": "Tyk2", "start": 49, "end": 53}], "disease": [{"text": "translocation", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We describe a molecularly confirmed case of pontocerebellar hypoplasia type 4, a rare and severe neonatal phenotype with a novel TSEN54 mutation, presenting with polyhydramnios, hypertonia, and early neonatal death.", "output": {"entities": {"gene": [{"text": "TSEN54", "start": 129, "end": 135}], "disease": [{"text": "pontocerebellar hypoplasia type 4", "start": 44, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSEN54", "start": 129, "end": 135}, "tail": {"text": "pontocerebellar hypoplasia type 4", "start": 44, "end": 77}}]}}, "schema": []}
{"input": "We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c. 200G & gt; A; p. G67X).", "output": {"entities": {"gene": [{"text": "SMS", "start": 101, "end": 104}], "disease": [{"text": "Snyder-Robinson syndrome", "start": 43, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMS", "start": 101, "end": 104}, "tail": {"text": "Snyder-Robinson syndrome", "start": 43, "end": 67}}]}}, "schema": []}
{"input": "The frequency of heterozygous ALDH2 * 1/* 2 plus homozygous ALDH2 * 2/* 2 in cases was significantly lower than that in exposed controls (27. 8% vs 43. 4%, P = 0. 011), and it decreased the risk of TCE-induced medicamentosa-like dermatitis (OR = 0. 50, 95% CI = 0. 29-0. 85).", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 30, "end": 35}], "disease": [{"text": "dermatitis", "start": 229, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that lower levels of SPARC were associated with therapy-refractory colorectal cancers (CRC), and that upregulating its expression enhances chemo-sensitivity resulting in greater tumour regression in vivo.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 42, "end": 47}], "disease": [{"text": "regression", "start": 206, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Synovial sarcomas account for up to 10% of all soft tissue sarcomas and are characterized by a specific chromosomal abnormality, t (X; 18) (p11. 2; q11. 2), that is observed in both monophasic and biphasic variants.", "output": {"entities": {"gene": [{"text": "p11", "start": 140, "end": 143}], "disease": [{"text": "chromosomal abnormality", "start": 104, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "By using confocal microscopic analysis, Western Blot, TransAM NF-κB ELISA, and chromatin immunoprecipitation (ChIP), we observed that NF-κB p65, p52, and c-Rel were activated in macrophages in patients with hypersplenism (hypersplenic macrophages).", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 62, "end": 67}], "disease": [{"text": "hypersplenism", "start": 207, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.", "output": {"entities": {"gene": [{"text": "FGF9", "start": 72, "end": 76}], "disease": [{"text": "Multiple synostoses syndrome", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGF9", "start": 72, "end": 76}, "tail": {"text": "Multiple synostoses syndrome", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "Patients were genotyped for 19 haplotype-tagging single nucleotide polymorphisms (htSNPs) in SRD5A1 and SRD5A2 genes, and their prognostic significance on prostate-specific antigen recurrence was assessed using Kaplan-Meier analysis and the Cox regression model.", "output": {"entities": {"gene": [{"text": "SRD5A2", "start": 104, "end": 110}], "disease": [{"text": "regression", "start": 245, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similarities to Rosai-Dorfman disease (RDD) (also known as sinus histiocytosis with massive lymphadenopathy (SHML)).", "output": {"entities": {"gene": [{"text": "MIM", "start": 32, "end": 35}], "disease": [{"text": "histiocytosis", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) prolongs survival in the mutant SOD1 transgenic mouse model of amyotrophic lateral sclerosis (ALS), whereas dysregulation of VEGF through deletion of its hypoxia-regulatory element causes motor neuron degeneration in mice.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxia", "start": 196, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Increased rates of chromosome breakage in BRCA1 carriers are normalized by oral selenium supplementation.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 42, "end": 47}], "disease": [{"text": "chromosome breakage", "start": 19, "end": 38}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRCA1", "start": 42, "end": 47}, "tail": {"text": "chromosome breakage", "start": 19, "end": 38}}]}}, "schema": []}
{"input": "In apolipoprotein B transgenic mice, phospholipid transfer protein deficiency enhances reactive oxygen species-dependent degradation of newly synthesized apolipoprotein B via a post-endoplasmic reticulum process, as well as improving the antiinflammatory properties of HDL in mice.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 3, "end": 19}], "disease": [{"text": "protein deficiency", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "To better understand carnitine palmitoyltransferase 1a (liver isoform, gene = Cpt-1a, protein = CPT-1a) deficiency in human disease, we developed a gene knockout mouse model.", "output": {"entities": {"gene": [{"text": "carnitine palmitoyltransferase 1a (liver", "start": 21, "end": 61}], "disease": [{"text": "CPT-1a) deficiency", "start": 96, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "carnitine palmitoyltransferase 1a (liver", "start": 21, "end": 61}, "tail": {"text": "CPT-1a) deficiency", "start": 96, "end": 114}}]}}, "schema": []}
{"input": "It is concluded that analysis of telomere length by flow-FISH manifests the significance for monitoring disease conditions, estimating prognosis and guiding therapy in all kinds of leukemia.", "output": {"entities": {"gene": [{"text": "FISH", "start": 57, "end": 61}], "disease": [{"text": "leukemia", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "To address the role of fbw7 in intestinal homeostasis and tumorigenesis, we generated conditional knock-out mice lacking fbw7 in the intestine and evaluated the effect of fbw7 absence in normal intestinal homeostasis and in adenomatous polyposis coli-mediated tumorigenesis.", "output": {"entities": {"gene": [{"text": "fbw7", "start": 23, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The factors that determine whether magnesium deficiency will result in inhibition of PTH release, in a lack of response of the bone to endogenous and exogenous PTH, or both, remain to be clarified.", "output": {"entities": {"gene": [{"text": "PTH", "start": 85, "end": 88}], "disease": [{"text": "magnesium deficiency", "start": 35, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We identified two novel mutations in FUS in two out of 99 (2. 0%) sporadic ALS patients and established the de novo occurrence of one FUS mutation.", "output": {"entities": {"gene": [{"text": "FUS", "start": 37, "end": 40}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Cells in culture stably expressing a dominant-negative MLH3 protein exhibit microsatellite instability.", "output": {"entities": {"gene": [{"text": "MLH3", "start": 55, "end": 59}], "disease": [{"text": "microsatellite instability", "start": 76, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We confirmed specific deregulation of Fmn2, Arntl2, Bfsp2, Gfra2, Gpm6a, and Gpm6b in B leukemia, of Nln, Fbln1, and Bmp7 in T leukemias, and of Etv5 in both leukemias.", "output": {"entities": {"gene": [{"text": "Bfsp2", "start": 52, "end": 57}], "disease": [{"text": "leukemias", "start": 127, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We sought to study the relationship of Rgs2 expression level to depression and anxiety-like behavioural features, sociability and brain 5-HT1A and 5-HT1B receptor expression.", "output": {"entities": {"gene": [{"text": "5-HT1B", "start": 147, "end": 153}], "disease": [{"text": "depression", "start": 64, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT1B", "start": 147, "end": 153}, "tail": {"text": "depression", "start": 64, "end": 74}}]}}, "schema": []}
{"input": "Overexpression of RGS5 resulted in significantly lower adhesion and migration abilities of the lung cancer cells (P < 0. 01).", "output": {"entities": {"gene": [{"text": "RGS5", "start": 18, "end": 22}], "disease": [{"text": "adhesion", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We studied cytokine gene polymorphisms in the promoter region, including interleukin (IL)-6, IL-1beta, and IL-10, in Japanese patients with human T-cell leukemia virus type I (HTLV-I) associated myelopathy (HAM) (n = 65), asymptomatic HTLV-I carriers (n = 143), and HTLV-I seronegative, normal controls (n = 160).", "output": {"entities": {"gene": [{"text": "IL-10", "start": 107, "end": 112}], "disease": [{"text": "asymptomatic", "start": 222, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Mild glucose intolerance develops in RIP-FRK male mice of at least 4 mo of age.", "output": {"entities": {"gene": [{"text": "FRK", "start": 41, "end": 44}], "disease": [{"text": "glucose intolerance", "start": 5, "end": 24}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FRK", "start": 41, "end": 44}, "tail": {"text": "glucose intolerance", "start": 5, "end": 24}}]}}, "schema": []}
{"input": "Taken together, our results indicate an accumulation of autophagic and lysosomal markers in human brain tissue from patients with primary tauopathies (CBD and PSP) as well as FAD, suggesting a defect of the autophagosome-lysosome pathway that may contribute to the development of tau pathology.", "output": {"entities": {"gene": [{"text": "FAD", "start": 175, "end": 178}], "disease": [{"text": "tauopathies", "start": 138, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Importantly, we showed that both small interfering RNA (siRNA)-mediated CDC25A down-regulation and a recently developed CDC25 pharmacologic inhibitor impaired this adhesion-dependent proliferation, establishing a functional link between CDC25A accumulation and adhesion-dependent proliferation in leukemic cells.", "output": {"entities": {"gene": [{"text": "CDC25A", "start": 72, "end": 78}], "disease": [{"text": "adhesion", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Thus, KS-WNK1 is a negative regulator of NCC and NKCC2 in vivo and plays an important role in the control of Na (+) homeostasis and blood pressure.", "output": {"entities": {"gene": [{"text": "NCC", "start": 41, "end": 44}], "disease": [{"text": "blood pressure", "start": 132, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Here we show that Pirt regulates the function of TRPM8 and its role in detecting cold.", "output": {"entities": {"gene": [{"text": "TRPM8", "start": 49, "end": 54}], "disease": [{"text": "cold", "start": 81, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "GSK-3β-induced ASK1 stabilization is crucial in LPS-induced endotoxin shock.", "output": {"entities": {"gene": [{"text": "ASK1", "start": 15, "end": 19}], "disease": [{"text": "shock", "start": 70, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The t (14; 18) translocation results in a fusion transcript containing the entire bcl-2 coding sequence with a 3' breakpoint fused to the immunoglobulin J (H) region and the c mu heavy chain.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 82, "end": 87}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "To examine whether gastric serrated adenoma shares the same immunophenotypic and molecular features of its colorectal traditional serrated adenoma, the clinicopathologic features, expression of mucin proteins (MUC2, MUC5AC, CD10, MUC6) and mismatch repair protein (MLH1), and mutations of BRAF and KRAS genes were studied.", "output": {"entities": {"gene": [{"text": "CD10", "start": 224, "end": 228}], "disease": [{"text": "colorectal traditional serrated adenoma", "start": 107, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 72, "end": 90}], "disease": [{"text": "multiple endocrine neoplasia type 2A", "start": 98, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 72, "end": 90}, "tail": {"text": "multiple endocrine neoplasia type 2A", "start": 98, "end": 134}}]}}, "schema": []}
{"input": "Together with RPL5, RPL11, and RPS7, RPL26 is the fourth RP regulating p53 activity that is linked to DBA.", "output": {"entities": {"gene": [{"text": "RPL26", "start": 37, "end": 42}], "disease": [{"text": "DBA", "start": 102, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RPL26", "start": 37, "end": 42}, "tail": {"text": "DBA", "start": 102, "end": 105}}]}}, "schema": []}
{"input": "Statistical analysis revealed no significant association between PRNP * 129Val and MS (P = 0. 76), MCI (P = 0. 46), alcoholism (P = 0. 84) and schizophrenia (P = 0. 69).", "output": {"entities": {"gene": [{"text": "MCI", "start": 99, "end": 102}], "disease": [{"text": "schizophrenia", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Herein, we investigated the ability of TGP to modulate JAK2/STAT3 activation and macrophage proliferation in rats with streptozotocin (STZ)-induced diabetes.", "output": {"entities": {"gene": [{"text": "TGP", "start": 39, "end": 42}], "disease": [{"text": "diabetes", "start": 148, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Our study is the first direct evidence that PIK3CA is an oncogene in ovarian cancer and greatly extends recent findings in breast cancer.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 44, "end": 50}], "disease": [{"text": "ovarian cancer", "start": 69, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIK3CA", "start": 44, "end": 50}, "tail": {"text": "ovarian cancer", "start": 69, "end": 83}}]}}, "schema": []}
{"input": "Astrocyte elevated gene-1 (AEG-1) is associated with tumorigenesis and progression in various types of human cancers.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 27, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "It is known that tumor hypoxic cells produce histone deacetylase-1 (HDAC-1), which up-regulates hypoxia-inducible factor-1alpha (HIF-1alpha) and down-regulates von Hippel-Lindau (VHL) protein by up-regulating vascular endothelial growth factor (VEGF) expression.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 245, "end": 249}], "disease": [{"text": "hypoxic", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "STAB1 is located in close proximity to PBMR1 and the NEK4-ITIH1-ITIH3-ITIH4 region, which are the top findings from GWAS meta-analyses of mood disorder, and a combined BD and schizophrenia data set.", "output": {"entities": {"gene": [{"text": "ITIH1", "start": 58, "end": 63}], "disease": [{"text": "BD", "start": 168, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITIH1", "start": 58, "end": 63}, "tail": {"text": "BD", "start": 168, "end": 170}}]}}, "schema": []}
{"input": "Mutations of the breast cancer susceptibility gene 1 (BRCA1), a tumor suppressor, confer an increased risk for breast, ovarian, and prostate cancers.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 54, "end": 59}], "disease": [{"text": "tumor", "start": 64, "end": 69}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "BRCA1", "start": 54, "end": 59}, "tail": {"text": "tumor", "start": 64, "end": 69}}]}}, "schema": []}
{"input": "Next, we investigated the effects of hypoxia on the expression levels of stem cell factors, Oct4, Nanog, Sox2 and Lin28, and showed that their expressions were induced by hypoxia.", "output": {"entities": {"gene": [{"text": "Sox2", "start": 105, "end": 109}], "disease": [{"text": "hypoxia", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "To investigate the association of apolipoprotein (APO) E4 and hypercholesterolemia in children, we studied the APOE phenotypes of 51 school-age children with hypercholesterolemia and of 51 age, sex and obesity index-matched controls with normocholesterolemia by two-dimensional gel electrophoresis APOE4 was present in 21 of 51 hypercholesterolemic children (41. 2%), and in nine of 51 control subjects (17. 6%).", "output": {"entities": {"gene": [{"text": "APO", "start": 50, "end": 53}], "disease": [{"text": "obesity", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.", "output": {"entities": {"gene": [{"text": "PIGW", "start": 20, "end": 24}], "disease": [{"text": "glycosylphosphatidylinositol deficiency", "start": 32, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIGW", "start": 20, "end": 24}, "tail": {"text": "glycosylphosphatidylinositol deficiency", "start": 32, "end": 71}}]}}, "schema": []}
{"input": "Urinary gamma-glutamyltransferase (GGT) as a potential marker of bone resorption.", "output": {"entities": {"gene": [{"text": "GGT", "start": 35, "end": 38}], "disease": [{"text": "bone resorption", "start": 65, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Together, these new and exciting findings encourage the future exploration into the function of Pak1 in the nervous system, thus, paving the way for novel strategies towards improved diagnosis and therapeutic treatment of diseases that affect the CNS.", "output": {"entities": {"gene": [{"text": "Pak1", "start": 96, "end": 100}], "disease": [{"text": "nervous system", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "By day 21, there was also a reduction in iNOS mRNA and iNOS + cells in granulomas in mice infected with BCG-IFN compared with infection with BCG-plasmid, and a similar reduction in both total number of granulomas and liver hydroxyproline content.", "output": {"entities": {"gene": [{"text": "IFN", "start": 108, "end": 111}], "disease": [{"text": "granulomas", "start": 71, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results suggest that the involvement of HIF-1 in uveal melanoma tumorigenesis is significant and complex, and that metabolic regulation of HIF-1 activation in Mum2B uveal melanoma cells has its specificities.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 62, "end": 67}], "disease": [{"text": "tumorigenesis", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "EGFR-M + prevalence was 11% and higher (20%) among never-smoking women with adenocarcinomas (ADCs), but 30% of mutations occurred in current/ex-smoking men.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In contrast, levels of IL-6 were not altered in asymptomatic subjects carrying the PGRN mutations.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 23, "end": 27}], "disease": [{"text": "asymptomatic", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "This was confirmed by that 6-OH-BDE-47 significantly down regulated the expression of epithelial markers E-cadherin (E-Cad) and zona occludin-1 (ZO-1) while up regulated the mesenchymal markers vimentin (Vim) and N-cadherin (N-Cad).", "output": {"entities": {"gene": [{"text": "occludin", "start": 133, "end": 141}], "disease": [{"text": "zona", "start": 128, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The dopamine D3 receptor gene is of potential interest in the physiopathology of affective disorder because of its expression pattern in brain structures controlling various aspects of behaviour, cognition and emotions.", "output": {"entities": {"gene": [{"text": "dopamine D3 receptor", "start": 4, "end": 24}], "disease": [{"text": "affective disorder", "start": 81, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dopamine D3 receptor", "start": 4, "end": 24}, "tail": {"text": "affective disorder", "start": 81, "end": 99}}]}}, "schema": []}
{"input": "Because examination of MIF production in children with active disease does not account for the inherent ability of the host to generate MIF, basal circulating MIF and peripheral blood mononuclear cell (PBMC) MIF transcript levels were determined in healthy children with a history of either mild or severe malaria.", "output": {"entities": {"gene": [{"text": "MIF", "start": 23, "end": 26}], "disease": [{"text": "mild", "start": 291, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "We report a case of cerebral sinus thrombosis as a recurrent thrombotic event in a patient with heterozygous prothrombin G20210A genotype after discontinuation of oral anticoagulation therapy.", "output": {"entities": {"gene": [{"text": "prothrombin", "start": 109, "end": 120}], "disease": [{"text": "thrombotic", "start": 61, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prothrombin", "start": 109, "end": 120}, "tail": {"text": "thrombotic", "start": 61, "end": 71}}]}}, "schema": []}
{"input": "Mismatch repair (MMR) deficiency and microsatellite instability (MSI) are associated with cisplatin resistance in human germ cell tumors (GCTs).", "output": {"entities": {"gene": [{"text": "MMR", "start": 17, "end": 20}], "disease": [{"text": "microsatellite instability", "start": 37, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We conclude that homozygous mutations in LPIN2 result in Majeed syndrome.", "output": {"entities": {"gene": [{"text": "LPIN2", "start": 41, "end": 46}], "disease": [{"text": "Majeed syndrome", "start": 57, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPIN2", "start": 41, "end": 46}, "tail": {"text": "Majeed syndrome", "start": 57, "end": 72}}]}}, "schema": []}
{"input": "Inhibiting ERK1/2 with PD98059 or treatment with siRNA directed against either NF-κB p65 or Nox4 attenuated hypoxic reductions in PPARγ expression and activity.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 130, "end": 135}], "disease": [{"text": "hypoxic", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In homozygous knockout (KO) mice, Nbea deficiency causes perinatal death.", "output": {"entities": {"gene": [{"text": "Nbea", "start": 34, "end": 38}], "disease": [{"text": "perinatal death", "start": 57, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Sequencing of exon 10 from two boys with XLA demonstrated a novel point mutation in the SH2 domain of BTK.", "output": {"entities": {"gene": [{"text": "BTK", "start": 102, "end": 105}], "disease": [{"text": "XLA", "start": 41, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BTK", "start": 102, "end": 105}, "tail": {"text": "XLA", "start": 41, "end": 44}}]}}, "schema": []}
{"input": "This study also established that SNP in intron 1 of FTO (rs17817449) are strongly associated with several measures of adiposity and are also associated with plasma insulin, insulin resistance, percentage body fat and fat mass.", "output": {"entities": {"gene": [{"text": "FTO", "start": 52, "end": 55}], "disease": [{"text": "insulin resistance", "start": 173, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "IGF2BP2 and SLC30A8 SNPs were not associated with insulin secretion but were with insulin sensitivity and glucose tolerance (0. 002 < or = P < or = 0. 02).", "output": {"entities": {"gene": [{"text": "IGF2BP2", "start": 0, "end": 7}], "disease": [{"text": "insulin sensitivity", "start": 82, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.", "output": {"entities": {"gene": [{"text": "CRYBB2", "start": 119, "end": 125}], "disease": [{"text": "cerulean cataract", "start": 19, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRYBB2", "start": 119, "end": 125}, "tail": {"text": "cerulean cataract", "start": 19, "end": 36}}]}}, "schema": []}
{"input": "Depression and fatigue during chronic IFN-& #945; administration were associated with alterations in the expression (OAS2) and transcriptional control (CREB/ATF) of genes linked to behavioral disorders including CFS and major depression, further supporting an immune contribution to these diseases.", "output": {"entities": {"gene": [{"text": "OAS2", "start": 117, "end": 121}], "disease": [{"text": "major depression", "start": 220, "end": 236}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OAS2", "start": 117, "end": 121}, "tail": {"text": "major depression", "start": 220, "end": 236}}]}}, "schema": []}
{"input": "We hypothesized that mutations in the beta-3-adrenergic receptor (beta 3AR) gene might result in the lipoatrophic phenotype by preventing triglyceride storage in adipocytes; thereby, resulting in secondary insulin resistance.", "output": {"entities": {"gene": [{"text": "beta-3-adrenergic receptor", "start": 38, "end": 64}], "disease": [{"text": "secondary", "start": 196, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Patients with chronic inflammation or inflammation-associated cancer display microsatellite instability (MSI), indicating a possible MMR inactivation.", "output": {"entities": {"gene": [{"text": "MMR", "start": 133, "end": 136}], "disease": [{"text": "microsatellite instability", "start": 77, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "In contrast, hypoxia had no effect on DR4, DR5, or DcR1 protein levels.", "output": {"entities": {"gene": [{"text": "DcR1", "start": 51, "end": 55}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Increased binding of Sp1 to the VPF/VEGF promoter has been observed when the cells were exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "hypoxia", "start": 99, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "To date, mutations have been identified in six genes (PIGA, PIGL, PIGM, PIGN, PIGO, and PIGV) encoding proteins in the GPI-anchor-synthesis pathway in individuals with severe neurological features, including seizures, muscular hypotonia, and intellectual disability.", "output": {"entities": {"gene": [{"text": "PIGO", "start": 78, "end": 82}], "disease": [{"text": "seizures", "start": 208, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe three (two familial and one sporadic) non-consanguineous cases presenting with ODDD features in whom we identified novel missense heterozygous mutations of the GJA1 gene: c. 317T > G (p. L106R), c. G139C (p. D47H), and c. C257A (p. S86Y).", "output": {"entities": {"gene": [{"text": "GJA1 gene", "start": 188, "end": 197}], "disease": [{"text": "sporadic", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.", "output": {"entities": {"gene": [{"text": "MGAT2", "start": 17, "end": 22}], "disease": [{"text": "carbohydrate-deficient glycoprotein syndrome type II", "start": 73, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MGAT2", "start": 17, "end": 22}, "tail": {"text": "carbohydrate-deficient glycoprotein syndrome type II", "start": 73, "end": 125}}]}}, "schema": []}
{"input": "We then screened all 210 tumors for mutations at candidate loci other than APC (K-ras, beta-catenin, and allelic loss at 1p33-p35 and 1p36) and for microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "p35", "start": 126, "end": 129}], "disease": [{"text": "microsatellite instability", "start": 148, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-1 receptor antagonist (IL-1ra 0. 1 microgram) reduced the development of SP-induced hyperalgesia up to 4 h after administration, but did not reverse an established hyperalgesia.", "output": {"entities": {"gene": [{"text": "Interleukin-1 receptor antagonist", "start": 0, "end": 33}], "disease": [{"text": "hyperalgesia", "start": 96, "end": 108}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Interleukin-1 receptor antagonist", "start": 0, "end": 33}, "tail": {"text": "hyperalgesia", "start": 96, "end": 108}}]}}, "schema": []}
{"input": "Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.", "output": {"entities": {"gene": [{"text": "ALAS2", "start": 96, "end": 101}], "disease": [{"text": "X-linked sideroblastic anemia", "start": 32, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALAS2", "start": 96, "end": 101}, "tail": {"text": "X-linked sideroblastic anemia", "start": 32, "end": 61}}]}}, "schema": []}
{"input": "We hypothesized that: 1) macrophage accumulation and cardiac fibrosis in SR-uPA +/o mice are dependent on localization of uPA by the uPA receptor (uPAR); 2) activation of plasminogen by uPA and subsequent activation of transforming growth factor-beta1 (TGF-beta1) and matrix metalloproteinase (MMP)-2 and-9 by plasmin are critical pathways through which uPA-expressing macrophages accumulate in the heart and cause fibrosis; and 3) uPA-induced cardiac fibrosis can be attenuated by treatment with verapamil.", "output": {"entities": {"gene": [{"text": "uPA receptor", "start": 133, "end": 145}], "disease": [{"text": "fibrosis", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Due to the complexity of the gene, the role of each p63 isotype in tumorigenesis is still confusing.", "output": {"entities": {"gene": [{"text": "p63", "start": 52, "end": 55}], "disease": [{"text": "tumorigenesis", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Innate immune system abnormalities, e. g., mannan-binding lectin (MBL) genotype variants, have been demonstrated to modify the disease course of rheumatoid arthritis (RA).", "output": {"entities": {"gene": [{"text": "MBL", "start": 66, "end": 69}], "disease": [{"text": "abnormalities", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In a family with clinical evidence of hereditary chronic pancreatitis, a missense mutation of codon 22 (GAC--& gt; GGC) of the cationic trypsinogen was found.", "output": {"entities": {"gene": [{"text": "cationic trypsinogen", "start": 127, "end": 147}], "disease": [{"text": "hereditary chronic pancreatitis", "start": 38, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cationic trypsinogen", "start": 127, "end": 147}, "tail": {"text": "hereditary chronic pancreatitis", "start": 38, "end": 69}}]}}, "schema": []}
{"input": "Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.", "output": {"entities": {"gene": [{"text": "KRT14", "start": 95, "end": 100}], "disease": [{"text": "Epidermolysis bullosa simplex with mottled pigmentation", "start": 0, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT14", "start": 95, "end": 100}, "tail": {"text": "Epidermolysis bullosa simplex with mottled pigmentation", "start": 0, "end": 55}}]}}, "schema": []}
{"input": "To study the effect of exogenous wild-type p53 on glioma cell growth, human glioma lines U251 MG, U87 MG and A172 were infected with an adenovirus vector expressing either wild-type p53 or bacterial lacZ.", "output": {"entities": {"gene": [{"text": "U87", "start": 98, "end": 101}], "disease": [{"text": "glioma", "start": 50, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We concluded that there is a higher expression of ERM/ETV5 in early stages of EEC, whereas there seems to be a RUNX1/AML1 translocation from cytoplasm to nucleus in EEC neoplastic transformation.", "output": {"entities": {"gene": [{"text": "AML1", "start": 117, "end": 121}], "disease": [{"text": "translocation", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of the RET signaling pathway (RET, GDNF and NTN), genes participating in the endothelin (EDN) type B receptor pathway (EDNRB, EDN3 and ECE-1), the SOX10 gene and the SIP1 gene that is mutated in syndromic forms of HSCR.", "output": {"entities": {"gene": [{"text": "NTN", "start": 179, "end": 182}], "disease": [{"text": "malformation", "start": 19, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Because of some similar radiographic features between SMDK and metatropic dysplasia, TRPV4 was tested as a disease gene for nonlethal metatropic dysplasia.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 85, "end": 90}], "disease": [{"text": "SMDK", "start": 54, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPV4", "start": 85, "end": 90}, "tail": {"text": "SMDK", "start": 54, "end": 58}}]}}, "schema": []}
{"input": "To detect adenocarcinoma cells in the circulating peripheral blood, we \" analyzed the presence of carcinoembryonic antigen (CEA) mRNA in the peripheral blood obtained from patients with pancreatic carcinoma (PC) or with gastric carcinoma (GC) and also, as controls, from pancreatitis or gastritis patients without carcinomas, a gastric lymphoma patient and four healthy volunteers.", "output": {"entities": {"gene": [{"text": "CEA", "start": 124, "end": 127}], "disease": [{"text": "gastritis", "start": 287, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "We also evaluated cytokines and chemokines production as parameters of severity of inflammation in the spinal cord of Wt versus GMF-KO mice with and without GMF-reconstitution following MOG-immunizations.", "output": {"entities": {"gene": [{"text": "MOG", "start": 186, "end": 189}], "disease": [{"text": "inflammation", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Rab1 also co-localised extensively with mutant TDP-43, FUS and SOD1 in neuronal cells, and Rab1 formed inclusions in motor neurons of spinal cords from sporadic ALS patients, which were positive for ubiquitinated TDP-43, implying that Rab1 is misfolded and dysfunctional in sporadic disease.", "output": {"entities": {"gene": [{"text": "FUS", "start": 55, "end": 58}], "disease": [{"text": "sporadic", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "It has been previously suggested that t (14; 18) translocation of bcl-2 to the immuno-globulin heavy chain (IgH) locus may contribute to pathogenesis of lymphoproliferative disorders related to hepatitis C virus (HCV) infection, including type II mixed cryoglobulinemia (MC).", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 66, "end": 71}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetic assays for the detection of the JAK2 V617F (c. 1849G > T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm.", "output": {"entities": {"gene": [{"text": "MPL", "start": 133, "end": 136}], "disease": [{"text": "erythrocytosis", "start": 216, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Consistent with these findings, apoE-/-mice that are also deficient for P-selectin show significantly reduced atherosclerotic lesion sizes and are almost completely protected from neointimal growth after vascular injury.", "output": {"entities": {"gene": [{"text": "P-selectin", "start": 72, "end": 82}], "disease": [{"text": "atherosclerotic lesion", "start": 110, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In contrast monocytes and macrophages were the largest producers of GPR14 mRNA, with relatively little expression in foam cells, lymphocytes, and platelets.", "output": {"entities": {"gene": [{"text": "GPR14", "start": 68, "end": 73}], "disease": [{"text": "foam cells", "start": 117, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Thus our preclinical studies show potent activity of CART33 and indicate that transient expression of anti-CD33 CAR by RNA modification could be used in patients to avoid long-term myelosuppression.", "output": {"entities": {"gene": [{"text": "CD33", "start": 107, "end": 111}], "disease": [{"text": "myelosuppression", "start": 181, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "We found that RAC3 overexpression inhibits autophagy when induced by starvation or rapamycin and involves RAC3 nuclear translocation-dependent and-independent mechanisms.", "output": {"entities": {"gene": [{"text": "RAC3", "start": 14, "end": 18}], "disease": [{"text": "starvation", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Joubert syndrome (JS)-related disorders (JSRDs) or cerebello-oculo-renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core clinical features (developmental delay/mental retardation, hypotonia, ataxia, episodic breathing abnormalities, abnormal eye movements) and variable involvement of other systems including renal, ocular, central nervous system, craniofacial, hepatic, and skeletal.", "output": {"entities": {"gene": [{"text": "CORS", "start": 84, "end": 88}], "disease": [{"text": "mental retardation", "start": 249, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "These studies focus on the EGF family member epiregulin (EREG) as a mediator of early stage breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "EREG", "start": 57, "end": 61}], "disease": [{"text": "tumorigenesis", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Failure of this P2X7-mediated phagocytic pathway may impair removal of subretinal deposits and predispose individuals toward AMD.", "output": {"entities": {"gene": [{"text": "P2X7", "start": 16, "end": 20}], "disease": [{"text": "subretinal deposits", "start": 71, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The findings suggest that neurologic sparing in untreated occipital horn syndrome is associated with approximately 30% residual functional activity of ATP7A.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 151, "end": 156}], "disease": [{"text": "occipital horn syndrome", "start": 58, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7A", "start": 151, "end": 156}, "tail": {"text": "occipital horn syndrome", "start": 58, "end": 81}}]}}, "schema": []}
{"input": "A second selection step using RT-qPCR data and significance analysis of microarrays yielded 13 genes (AP2A1, B4GALT1, C1orf63, CCR2, CFP, DIS3, NEAT1, NOXA1, OSM, PAPOLG, PRIC285, ZNF419, and BC037918) which were finally used in 343 samples (90 healthy, six cystadenoma, eight low malignant potential tumor, 19 FIGO I/II, and 220 FIGO III/IV EOC patients).", "output": {"entities": {"gene": [{"text": "PAPOLG", "start": 163, "end": 169}], "disease": [{"text": "tumor", "start": 301, "end": 306}]}, "relations": {}}, "schema": []}
{"input": "The secretion of VEGF was enhanced by the combination of hypoxia and DHT as compared to each treatment alone.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The t (12: 21) translocation fuses the TEL and AML1 genes and has been found in up to 28% of paediatric B-cell precursor acute lymphoblastic leukaemias (BCP-ALL).", "output": {"entities": {"gene": [{"text": "AML1", "start": 47, "end": 51}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "We found: 1) in the absence of ozone-induced oxidative stress, males had higher level of bacterial dissemination compared to females; ozone exposure decreased pulmonary clearance in both sexes and ozone-exposed females were more affected than males; 2) ozone exposure increased lung weight, but decreased spleen weight in both sexes, and in both cases ozone-exposed females were affected the most; 3) plasma cortisol levels in infected mice changed: ozone-exposed > FA-exposed, females > males, and infected > non-infected; 4) no major sex hormone differences were observed in the studied conditions; 5) differences between wild type and SP-A (-/-) mice were observed in some of the studied conditions.", "output": {"entities": {"gene": [{"text": "SP-A", "start": 638, "end": 642}], "disease": [{"text": "weight", "start": 283, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "Neuroinflammation is often associated with neurodegenerative diseases, including multiple sclerosis (MS), stroke, Alzheimer' s disease, and HIV-1-associated dementia (HAD).", "output": {"entities": {"gene": [{"text": "HAD", "start": 167, "end": 170}], "disease": [{"text": "multiple sclerosis", "start": 81, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "However, in comparison within each smoking group, EGFR-TKI treatment led to more favourable OS and PFS in never smokers (OS: OR, 0 · 55; 95% CI, 0 · 42-0 · 73; PFS: OR, 0 · 43; 95% CI, 0 · 33-0 · 54), compared with former or current smokers (OS: OR, 0 · 89; 95% CI, 0 · 80-0 · 97; PFS: OR, 0 · 73; 95% CI, 0 · 62-0 · 85).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 50, "end": 54}], "disease": [{"text": "smoking", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.", "output": {"entities": {"gene": [{"text": "ATP1A2", "start": 24, "end": 30}], "disease": [{"text": "alternating hemiplegia of childhood", "start": 43, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP1A2", "start": 24, "end": 30}, "tail": {"text": "alternating hemiplegia of childhood", "start": 43, "end": 78}}]}}, "schema": []}
{"input": "The most common subtype of MTS is characterized by germline mutations in mismatch repair (MMR) genes leading to microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 90, "end": 93}], "disease": [{"text": "microsatellite instability", "start": 112, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "A previous autosome-wide screen identified a nonparametric linkage (NPL) log-likelihood ratio (LOD) score of 2. 7 on chromosome 6q26 for the sum of nine withdrawal symptoms.", "output": {"entities": {"gene": [{"text": "NPL", "start": 68, "end": 71}], "disease": [{"text": "withdrawal symptoms", "start": 153, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "HOX11L1 and HOX11 expression were observed in one instance each, in the absence of detectable chromosomal abnormality of their respective loci, on chromosomes 2 and 10, respectively.", "output": {"entities": {"gene": [{"text": "HOX11L1", "start": 0, "end": 7}], "disease": [{"text": "chromosomal abnormality", "start": 94, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We also observed that CST6, CXCL14, DHRS3, and SPP1 were associated with PTC lymph node metastasis, with CST6, CXCL14, and SPP1 being positively correlated with metastasis and DHRS3 being negatively correlated.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 47, "end": 51}], "disease": [{"text": "metastasis", "start": 88, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "To clarify the origin of defective mismatch repair (MMR) in sporadic endometrial cancers with microsatellite instability (MSI), a thorough mutation analysis was performed on the human mismatch repair gene MSH3.", "output": {"entities": {"gene": [{"text": "MMR", "start": 52, "end": 55}], "disease": [{"text": "microsatellite instability", "start": 94, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "A diagnosis of schizophrenia is a significant predictor for increased GLP, SETDB1 mRNA expression and H3K9me2 levels in both postmortem brain and lymphocyte samples.", "output": {"entities": {"gene": [{"text": "GLP", "start": 70, "end": 73}], "disease": [{"text": "schizophrenia", "start": 15, "end": 28}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLP", "start": 70, "end": 73}, "tail": {"text": "schizophrenia", "start": 15, "end": 28}}]}}, "schema": []}
{"input": "Factor B-deficient mice after Stx2/LPS exhibited less thrombocytopenia and were protected against glomerular abnormalities and renal function impairment, indicating the involvement of complement activation via the alternative pathway in the glomerular thrombotic process in HUS mice.", "output": {"entities": {"gene": [{"text": "Stx2", "start": 30, "end": 34}], "disease": [{"text": "abnormalities", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate the clinical usefulness of a panel of beta2 integrins (CD11a, CD11b and CD11c) in accurate prediction of AML-M3, and recommend inclusion of this immunophenotypic analysis to identify patients who require ATRA therapy.", "output": {"entities": {"gene": [{"text": "CD11c", "start": 87, "end": 92}], "disease": [{"text": "AML-M3", "start": 120, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD11c", "start": 87, "end": 92}, "tail": {"text": "AML-M3", "start": 120, "end": 126}}]}}, "schema": []}
{"input": "In this study, we have not only identified a number of potential candidate miRNAs for breast cancer, but also found that deregulation of miRNA expression during breast tumorigenesis might be an early event since it occurred significantly during normal to ADH transition.", "output": {"entities": {"gene": [{"text": "ADH", "start": 255, "end": 258}], "disease": [{"text": "tumorigenesis", "start": 168, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "This Serbian family further demonstrates that recurrent MR-1 mutations are associated with PNKD worldwide, which will affect genetic testing.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 56, "end": 60}], "disease": [{"text": "PNKD", "start": 91, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MR-1", "start": 56, "end": 60}, "tail": {"text": "PNKD", "start": 91, "end": 95}}]}}, "schema": []}
{"input": "A medical record review was also conducted to determine whether the bcl-2 t (14; 18) translocation correlated with prognosis.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 68, "end": 73}], "disease": [{"text": "translocation", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Association of serum lipocalin-type prostaglandin D synthase levels with subclinical atherosclerosis in untreated asymptomatic subjects.", "output": {"entities": {"gene": [{"text": "lipocalin-type prostaglandin D synthase", "start": 21, "end": 60}], "disease": [{"text": "asymptomatic", "start": 114, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In these models, prophylactic administration of ALC has proven to be effective in preventing the development of neuropathic pain.", "output": {"entities": {"gene": [{"text": "ALC", "start": 48, "end": 51}], "disease": [{"text": "neuropathic pain", "start": 112, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "After 3 months of losartan treatment, systolic blood pressure was not lowered in two patients with CYP2C9 * 1/* 30, suggesting that they exhibited impaired in vivo CYP2C9 activity.", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 99, "end": 105}], "disease": [{"text": "systolic blood pressure", "start": 38, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Notably, we identified recurrent mutations of known cancer genes, including TP53, CYLD, CDKN2A, BAP1 and PBRM1, in thymic carcinomas.", "output": {"entities": {"gene": [{"text": "PBRM1", "start": 105, "end": 110}], "disease": [{"text": "thymic carcinomas", "start": 115, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PBRM1", "start": 105, "end": 110}, "tail": {"text": "thymic carcinomas", "start": 115, "end": 132}}]}}, "schema": []}
{"input": "The elevated serum alpha fetoprotein (AFP) concentration in ataxia-telangiectasia (A-T) patients has been known for decades, but the individual variation of AFP levels over time has not been studied.", "output": {"entities": {"gene": [{"text": "AFP", "start": 38, "end": 41}], "disease": [{"text": "telangiectasia", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In the TWIST group, ptosis was present in 90%, amblyopia in 70%, horizontal strabismus in 70%, vertical strabismus in 60%, NLDO in 60%, astigmatism in 50%, inferior oblique overaction (IOOA) in 40%, hyperopia in 40%, myopia in 30%, nystagmus in 30%, and optic nerve findings in 30%.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 7, "end": 12}], "disease": [{"text": "hyperopia", "start": 199, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Our data showed that knockdown of PKCε expression inhibited proliferation, induced apoptosis and decreased invasiveness of human glioma cell lines U251 and U87, as well as suppressed the growth of U87 cell-derived tumors in nude mice.", "output": {"entities": {"gene": [{"text": "U87", "start": 156, "end": 159}], "disease": [{"text": "glioma", "start": 129, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In primary tumor tissues, CES2 expression tended to be higher than that observed in liver metastasis tissues (p = 0. 05).", "output": {"entities": {"gene": [{"text": "CES2", "start": 26, "end": 30}], "disease": [{"text": "liver metastasis", "start": 84, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Based on our experience, we propose a flow cytometric algorithmic approach for the distinction of typical BPDCN from certain types of acute myeloid leukemia, but also for the identification of acute myeloid leukemia, admixed with CD56 negative DC2 cells, which could be misdiagnosed as BPDCN.", "output": {"entities": {"gene": [{"text": "DC2", "start": 244, "end": 247}], "disease": [{"text": "acute myeloid leukemia", "start": 134, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Seven inactivating mutations, which cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, show a reduced functional activity of the receptor because they may 1) reduce its affinity for agonists; 2) prevent conversion of the receptor from a putatively immature, high mannose form into the fully glycosylated and biologically active form of the CaR, in addition to lowering its affinity for agonists; or 3) fail to couple the receptor to and/or activate its respective G protein (s).", "output": {"entities": {"gene": [{"text": "CaR", "start": 373, "end": 376}], "disease": [{"text": "familial hypocalciuric hypercalcemia", "start": 42, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CaR", "start": 373, "end": 376}, "tail": {"text": "familial hypocalciuric hypercalcemia", "start": 42, "end": 78}}]}}, "schema": []}
{"input": "It is possible to be genetically predisposed to becoming obese or overweight, and several potentially causative single nucleotide polymorphisms (SNPs), such as rs9939609 (A/T) in the fat mass, and obesity-associated gene (FTO) and rs17782313 (T/C) in the melanocortin-4 receptor gene (MC4R), have been investigated.", "output": {"entities": {"gene": [{"text": "FTO", "start": 222, "end": 225}], "disease": [{"text": "overweight", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrated that Ars2 knockdown significantly repressed the proliferation and tumorigenesis abilities of glioblastoma cells in & #160; vitro and in vivo.", "output": {"entities": {"gene": [{"text": "Ars2", "start": 27, "end": 31}], "disease": [{"text": "glioblastoma", "start": 115, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ars2", "start": 27, "end": 31}, "tail": {"text": "glioblastoma", "start": 115, "end": 127}}]}}, "schema": []}
{"input": "MMR defect seems to be related with sporadic-microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 0, "end": 3}], "disease": [{"text": "microsatellite instability", "start": 45, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "While reports of the recovery of GGS/GCS from normally sterile sites are increasing, studies describing GGS/GCS throat colonization rates relative to GAS in the same population are very few.", "output": {"entities": {"gene": [{"text": "GCS", "start": 37, "end": 40}], "disease": [{"text": "sterile", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The risk for low anti-HBs titers increased concurrently with increases in systolic blood pressure (BP), the IL-10 ATA/ACC haplotype, and the IL-10 ATA present haplotype.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 108, "end": 113}], "disease": [{"text": "systolic blood pressure", "start": 74, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome.", "output": {"entities": {"gene": [{"text": "FGD1", "start": 36, "end": 40}], "disease": [{"text": "Aarskog syndrome", "start": 73, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGD1", "start": 36, "end": 40}, "tail": {"text": "Aarskog syndrome", "start": 73, "end": 89}}]}}, "schema": []}
{"input": "Intracoronary adenovirus-mediated S100A1 gene delivery in vivo to the postinfarcted failing rat heart normalized myocardial contractile function and Ca2 + handling, which provided support in a physiological context for results found in myocytes.", "output": {"entities": {"gene": [{"text": "S100A1 gene", "start": 34, "end": 45}], "disease": [{"text": "adenovirus", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that bFGF regulates ERK oscillations in premalignant but not malignant JB6 cells.", "output": {"entities": {"gene": [{"text": "ERK", "start": 37, "end": 40}], "disease": [{"text": "premalignant", "start": 57, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The adhesion of platelets to the subendothelium of blood vessels at sites of vascular injury under high shear conditions is mediated by a direct interaction between the platelet receptor glycoprotein Ibalpha (GpIbalpha) and the A1 domain of the von Willebrand factor (VWF).", "output": {"entities": {"gene": [{"text": "GpIbalpha", "start": 209, "end": 218}], "disease": [{"text": "adhesion", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "A role for AC8 in modulating complex behavioral outcomes has been demonstrated in AC8 knock out (KO) mouse models in which anxiety-like responses were differentially modulated following repeated stress experiences, suggesting an involvement of AC8 in stress adaptation and mood disorders.", "output": {"entities": {"gene": [{"text": "AC8", "start": 11, "end": 14}], "disease": [{"text": "anxiety", "start": 123, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "C609T polymorphism of NQO1 gene leads to loss of enzyme activity, which may be a risk factor in the etiology of specific types of hematopoietic malignancies.", "output": {"entities": {"gene": [{"text": "NQO1 gene", "start": 22, "end": 31}], "disease": [{"text": "hematopoietic malignancies", "start": 130, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "In fact, blocking cyclooxygenase-2 with NS398 in hypoxic-1833 cells, not only HIF-1α decreased but also molecular-mechanism (s) upstream of the Hippo pathway were triggered: LATS-dependent TAZ phosphorylation seemed responsible for TAZ nucleus/cytoplasm translocation and degradation.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 189, "end": 192}], "disease": [{"text": "translocation", "start": 254, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "We selected two novel genes, fibronectin type III domain containing 3B (FNDC3B) at the 3q26. 3 overlapped amplicon and solute carrier family 29 member 2 (SLC29A2) at the 11q13. 2 overlapped amplicon, to investigate their aberrations in HCC tumorigenesis.", "output": {"entities": {"gene": [{"text": "SLC29A2", "start": 154, "end": 161}], "disease": [{"text": "tumorigenesis", "start": 240, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Heterogeneous mutations in the SLC22A5 gene cause primary carnitine deficiency.", "output": {"entities": {"gene": [{"text": "SLC22A5", "start": 31, "end": 38}], "disease": [{"text": "carnitine deficiency", "start": 58, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC22A5", "start": 31, "end": 38}, "tail": {"text": "carnitine deficiency", "start": 58, "end": 78}}]}}, "schema": []}
{"input": "We identified MYB-QKI fusions as a specific and single candidate driver event in angiocentric gliomas.", "output": {"entities": {"gene": [{"text": "MYB", "start": 14, "end": 17}], "disease": [{"text": "gliomas", "start": 94, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYB", "start": 14, "end": 17}, "tail": {"text": "gliomas", "start": 94, "end": 101}}]}}, "schema": []}
{"input": "Amplifiable DNA was obtained from three cases of patients on HAART who died due to primary pathology other than HAD: (1) cardiovascular disease, a disease associated with HAART therapy; (2) bacterial infections, including Mycobacterium avium complex, rapid occurrence of extreme dementia; and (3) acquired immunodeficiency syndrome (AIDS)-related lymphoma with meningeal involvement.", "output": {"entities": {"gene": [{"text": "HAD", "start": 112, "end": 115}], "disease": [{"text": "bacterial infections", "start": 190, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Studies of mice with mild Marfan syndrome (MFS) have correlated the development of thoracic aortic aneurysm (TAA) with improper stimulation of noncanonical (Erk-mediated) TGFβ signaling by the angiotensin type I receptor (AT1r).", "output": {"entities": {"gene": [{"text": "AT1r", "start": 222, "end": 226}], "disease": [{"text": "mild", "start": 21, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "In addition, CXCL14 methylation in sputum from asymptomatic early-stage lung cancer cases was associated with a 2. 9-fold elevated risk for this disease compared with controls, substantiating its potential as a biomarker for early detection of lung cancer.", "output": {"entities": {"gene": [{"text": "CXCL14", "start": 13, "end": 19}], "disease": [{"text": "asymptomatic", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "To test the hypothesis that SORL1 is associated with brain magnetic resonance imaging (MRI) measurements of atrophy and/or vascular disease.", "output": {"entities": {"gene": [{"text": "SORL1", "start": 28, "end": 33}], "disease": [{"text": "atrophy", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Recurrent abnormalities affecting genes in key pathways were identified: IKZF1 (22%), CDKN2A/B (17%), PAX5 (8%), ETV6 (19%), and RB1 (37%).", "output": {"entities": {"gene": [{"text": "IKZF1", "start": 73, "end": 78}], "disease": [{"text": "abnormalities", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The function of the MALT1 gene is subverted by oncogenic chimeric fusions arising from the recurrent t (11; 18) (q21; q21) aberration, which is the most frequent translocation in mucosa-associated lymphoid tissue (MALT) lymphoma.", "output": {"entities": {"gene": [{"text": "MALT1 gene", "start": 20, "end": 30}], "disease": [{"text": "translocation", "start": 162, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "A relationship between delirium with APOE genotype, IFN-gamma, and IGF-I, but not with IL-6, IL-1, TNF-alpha, and LIF was found.", "output": {"entities": {"gene": [{"text": "LIF", "start": 114, "end": 117}], "disease": [{"text": "delirium", "start": 23, "end": 31}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LIF", "start": 114, "end": 117}, "tail": {"text": "delirium", "start": 23, "end": 31}}]}}, "schema": []}
{"input": "Detection of JAZF1, SUZ12, EPC1, and PHF1 rearrangement by fluorescence in situ hybridization was performed on tissue microarrays consisting of 94 ESTs of classic and variant morphology (20 ESNs, 43 primary uterine ESSs, 15 metastatic uterine ESSs, 4 primary extrauterine ESSs, 7 primary uterine UESs, and 5 unclassified ESTs), 16 Müllerian adenosarcomas, 2 malignant mixed Müllerian tumors, 2 uterine tumors resembling ovarian sex-cord tumors, 2 highly cellular leiomyomas, 1 leiomyosarcoma, and 7 polypoid endometriosis.", "output": {"entities": {"gene": [{"text": "ESSs", "start": 215, "end": 219}], "disease": [{"text": "tumors", "start": 384, "end": 390}]}, "relations": {}}, "schema": []}
{"input": "We genotyped six PON3 tagging single nucleotide polymorphisms (tagSNPs) and examined their associations with PON1 activity, SLE risk, antiphopholipid autoantibodies (APA), lupus nephritis, carotid vascular disease, and inflammation.", "output": {"entities": {"gene": [{"text": "APA", "start": 166, "end": 169}], "disease": [{"text": "inflammation", "start": 219, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Mice with deficient or reduced SERT function (SERT knockout mice) show several behavioral changes, including increased anxiety-like behavior, increased sensitivity to stress, and decreases in aggressive behavior.", "output": {"entities": {"gene": [{"text": "SERT", "start": 31, "end": 35}], "disease": [{"text": "aggressive behavior", "start": 192, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis that MBL genotype modulates arterial stiffness in children after KD.", "output": {"entities": {"gene": [{"text": "MBL", "start": 30, "end": 33}], "disease": [{"text": "arterial stiffness", "start": 53, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Microsatellite instability was determined by a panel of 10 tetranucleotide repeats, the Bethesda consensus panel of mono-and dinucleotide repeats, and coding mononucleotide repeats in transforming growth factor-beta receptor type II, hMSH3, BAX, hMSH6, and insulin-like growth factor receptor type II.", "output": {"entities": {"gene": [{"text": "BAX", "start": 241, "end": 244}], "disease": [{"text": "mono", "start": 116, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results indicate that NSAIDs inhibit hypoxia-induced angiogenesis in endothelial cells by inhibiting VEGF and Flt-1 expression through increased VHL expression and the resulting ubiquitination and degradation of HIF-1alpha.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 123, "end": 127}], "disease": [{"text": "hypoxia", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Previous evidence from tooth agenesis studies suggested IRF6 and TGFA interact.", "output": {"entities": {"gene": [{"text": "IRF6", "start": 56, "end": 60}], "disease": [{"text": "tooth agenesis", "start": 23, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We explored the association of genetic polymorphisms of: estrogen receptor alpha (ESR1-TA repeats); interleukin-6 (IL-6 G-174C); apolipoprotein E (APO epsilon2, epsilon3, epsilon4); lipoprotein lipase Pvu II (LPL P +/-), with clinical variables: gender, age, body mass index (BMI), diet type and biological variables: triglycerides, cholesterol, HDL-C, LDL-C, CRP, homocysteine, urate, and glucose in 105 healthy young subjects (20-35 yrs) of Croatian origin.", "output": {"entities": {"gene": [{"text": "APO", "start": 147, "end": 150}], "disease": [{"text": "body mass index", "start": 259, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.", "output": {"entities": {"gene": [{"text": "prion protein", "start": 28, "end": 41}], "disease": [{"text": "Creutzfeldt-Jakob disease", "start": 50, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "prion protein", "start": 28, "end": 41}, "tail": {"text": "Creutzfeldt-Jakob disease", "start": 50, "end": 75}}]}}, "schema": []}
{"input": "Brain-derived neurotrophic factor (BDNF) has been reported to promote tumorigenesis and progression in several human malignancies.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 35, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "PTEN and LKB1 are candidate genes for mutations in sporadic colon cancers, either as initiating events in tumorigenesis or providing a selective advantage during tumor growth.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 9, "end": 13}], "disease": [{"text": "tumorigenesis", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In addition, novel genetic interactions were revealed between CFH, HTRA1 and C3 polymorphisms that might contribute to the pathogenesis of dry AMD.", "output": {"entities": {"gene": [{"text": "CFH", "start": 62, "end": 65}], "disease": [{"text": "dry", "start": 139, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Loss of ACE2 exacerbates AngII-mediated inflammation, myocardial injury and dysfunction in ACE2-deficient hearts via activation of the CTGF-FKN-ERK and MMP signaling.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 135, "end": 139}], "disease": [{"text": "inflammation", "start": 40, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "High circulating levels of IGF-I and of its major binding protein IGFBP3 have been related with increased mammographic density in Caucasian premenopausal women.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 27, "end": 32}], "disease": [{"text": "mammographic density", "start": 106, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Various other protein products of genes associated with bipolar disorder either bind to or are affected by phosphatidyl-inositol phosphate products of this pathway (ADBRK2, HIP1R, KCNQ2, RGS4, WFS1), are associated with its constituent elements (BCR, DUSP6, FAT, GNAZ) or are downstream targets of this signalling cascade (DPYSL2, DRD3, GAD1, G6PD, GCH1, KCNQ2, NOS3, SLC6A3, SLC6A4, SST, TH, TIMELESS).", "output": {"entities": {"gene": [{"text": "HIP1R", "start": 173, "end": 178}], "disease": [{"text": "bipolar disorder", "start": 56, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIP1R", "start": 173, "end": 178}, "tail": {"text": "bipolar disorder", "start": 56, "end": 72}}]}}, "schema": []}
{"input": "Upregulation of DnaJB4 and DnaJC6 in joints by smoking was also confirmed in mice exposed to cigarette smoke.", "output": {"entities": {"gene": [{"text": "DnaJC6", "start": 27, "end": 33}], "disease": [{"text": "smoking", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Since adeno-associated viral (AAV) vectors can be used for efficient gene transfer to these two cell types, we are developing AAV-mediated gene therapy approaches for inherited retinal degeneration using animal models that have defects in these cells.", "output": {"entities": {"gene": [{"text": "AAV", "start": 30, "end": 33}], "disease": [{"text": "retinal degeneration", "start": 177, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Colorectal carcinoma is known to express the androgen receptor, but data on somatic CAG repeat lengths variations in malignant and normal epithelial cells are still sporadic.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 45, "end": 62}], "disease": [{"text": "sporadic", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Additional targets of miR-326 controlling TGF-β signaling and fibrosis-related pathways were identified, and miR-326 was found to down-regulate profibrotic genes, such as Ets1, Smad3, and matrix metalloproteinase 9, whereas it up-regulates antifibrotic genes, such as Smad7.", "output": {"entities": {"gene": [{"text": "Ets1", "start": 171, "end": 175}], "disease": [{"text": "fibrosis", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Aspirin and sulindac have been shown to be effective in selecting for cells with reduced microsatellite instability (MSI) that is inherent in mismatch repair (MMR)-deficient hereditary nonpolyposis colorectal cancer (HNPCC) cells.", "output": {"entities": {"gene": [{"text": "MMR", "start": 159, "end": 162}], "disease": [{"text": "microsatellite instability", "start": 89, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The RUNX1 transcription factor gene is frequently mutated in sporadic myeloid and lymphoid leukemia through translocation, point mutation or amplification.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 4, "end": 9}], "disease": [{"text": "translocation", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that IL-22-producing T cells in humans may play an important role in the defense against fungal infections such as C. albicans.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 28, "end": 33}], "disease": [{"text": "fungal infections", "start": 112, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.", "output": {"entities": {"gene": [{"text": "K71", "start": 69, "end": 72}], "disease": [{"text": "woolly hair", "start": 107, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "K71", "start": 69, "end": 72}, "tail": {"text": "woolly hair", "start": 107, "end": 118}}]}}, "schema": []}
{"input": "In 2011 he developed jaundice, pruritus and epigastric pain. He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14, 600, 000 IU/mL).", "output": {"entities": {"gene": [{"text": "GGT", "start": 107, "end": 110}], "disease": [{"text": "epigastric pain", "start": 44, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "While it remains unclear whether these mutations are sufficient for the clinical expression of the entire SGS phenotype, these data suggest a role for fibrillin-1 in early craniofacial and central nervous system development.", "output": {"entities": {"gene": [{"text": "fibrillin-1", "start": 151, "end": 162}], "disease": [{"text": "SGS", "start": 106, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fibrillin-1", "start": 151, "end": 162}, "tail": {"text": "SGS", "start": 106, "end": 109}}]}}, "schema": []}
{"input": "FGF23 protein is a phosphaturic factor that is elevated in several diseases associated with hypophosphatemia and rickets but varies with disease status in ADHR.", "output": {"entities": {"gene": [{"text": "ADHR", "start": 155, "end": 159}], "disease": [{"text": "hypophosphatemia", "start": 92, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We conducted a cross-sectional study nested within the large Mexican ESMaestras cohort to investigate the relation between circulating levels of IGF-I, IGFBP-3, the IGF-I/IGFBP-3 ratio, five common SNPs in the IGF-1, IGFBP-3 and IGF-1R genes and mammographic density in 593 premenopausal Mexican women.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 145, "end": 150}], "disease": [{"text": "mammographic density", "start": 246, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Association analyses of genetic polymorphisms of GSTM1, GSTT1, NQO1, NAT2, LPL, PRSS1, PSTI, and CFTR with chronic alcoholic pancreatitis in Japan.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 63, "end": 67}], "disease": [{"text": "alcoholic pancreatitis", "start": 115, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "T-cell, MLL-rearranged, TEL-AML1-positive, E2A-PBX1-positive and hyperdiploid acute lymphoblastic leukemia, with the exception of BCR-ABL-positive and' B-other' acute lymphoblastic leukemias (defined as precursor B-cell acute lymphoblastic leukemia not carrying the foregoing cytogenetic aberrations), were found to have unique microRNA-signatures that differed from each other and from those of healthy hematopoietic cells.", "output": {"entities": {"gene": [{"text": "E2A", "start": 43, "end": 46}], "disease": [{"text": "cytogenetic aberrations", "start": 276, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "The mechanism by which amplified GPR39 induces tumorigenesis was associated with its role in promoting G1/S transition via up-regulation of cyclin D1 and CDK6.", "output": {"entities": {"gene": [{"text": "GPR39", "start": 33, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease resulting from occlusion of the distal internal carotid arteries.", "output": {"entities": {"gene": [{"text": "MMD", "start": 18, "end": 21}], "disease": [{"text": "cerebrovascular disease", "start": 60, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Considering the size of our sample and strategy, our results suggest that the PAWR does not play a major role in schizophrenia or mood disorders in the Japanese population.", "output": {"entities": {"gene": [{"text": "PAWR", "start": 78, "end": 82}], "disease": [{"text": "schizophrenia", "start": 113, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAWR", "start": 78, "end": 82}, "tail": {"text": "schizophrenia", "start": 113, "end": 126}}]}}, "schema": []}
{"input": "In this study, we examined MRP and aberrant p53 expression in 54 colorectal cancers (CRC), 35 carcinoma in adenomas (CIA) and 40 adenomatous polyps by immunohistochemical procedures.", "output": {"entities": {"gene": [{"text": "CIA", "start": 117, "end": 120}], "disease": [{"text": "carcinoma", "start": 94, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "PU. 1 is highly expressed in leukemia cells, whereas RUNX1 is frequently inactivated by mutation or translocation.", "output": {"entities": {"gene": [{"text": "PU. 1", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Genetic analysis of the HSD11B2 gene from the AME patients revealed the homozygous deletion of six nucleotides in exon 2 with the resultant loss of amino acids Leu (114) and Glu (115), representing the first alteration found in the cofactor-binding domain.", "output": {"entities": {"gene": [{"text": "HSD11B2", "start": 24, "end": 31}], "disease": [{"text": "AME", "start": 46, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSD11B2", "start": 24, "end": 31}, "tail": {"text": "AME", "start": 46, "end": 49}}]}}, "schema": []}
{"input": "As both RalA and RalB have been implicated in a variety of tumorigenic phenotypes, we sought to determine which proteins downstream of Rals promote transformation and tumorigenesis.", "output": {"entities": {"gene": [{"text": "RalA", "start": 8, "end": 12}], "disease": [{"text": "tumorigenesis", "start": 167, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, repeating pregnancy and lactation (pregnancy-lactation cycle) exacerbated cardiac hypertrophy and systolic dysfunction and induced cardiac fibrosis, lung congestion, pleural effusion, and abnormal breathing in APJ-TG mice.", "output": {"entities": {"gene": [{"text": "APJ", "start": 225, "end": 228}], "disease": [{"text": "abnormal breathing", "start": 203, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome.", "output": {"entities": {"gene": [{"text": "paraplegin", "start": 16, "end": 26}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "To validate the concept of TLR4-targeted treatment strategies in gram-negative sepsis, we first showed that TLR4 (-/-) and myeloid differentiation primary response gene 88 (MyD88) (-/-) mice were fully resistant to Escherichia coli-induced septic shock, whereas TLR2 (-/-) and wild-type mice rapidly died of fulminant sepsis.", "output": {"entities": {"gene": [{"text": "MyD88", "start": 173, "end": 178}], "disease": [{"text": "septic shock", "start": 240, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease.", "output": {"entities": {"gene": [{"text": "RASGRP1", "start": 0, "end": 7}], "disease": [{"text": "autoimmune lymphoproliferative syndrome", "start": 20, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RASGRP1", "start": 0, "end": 7}, "tail": {"text": "autoimmune lymphoproliferative syndrome", "start": 20, "end": 59}}]}}, "schema": []}
{"input": "Under hypoxic conditions a significant upregulation and activation of HIF-1 alpha accompanied by an increased production of VEGF in MCF7 and A549 was observed.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 124, "end": 128}], "disease": [{"text": "hypoxic", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "The fibrinolytic activities of conditioned medium and cell lysates from human glioma cell lines, A172, T98G, U87 and TM1 were studied by fibrin plate zymography.", "output": {"entities": {"gene": [{"text": "U87", "start": 109, "end": 112}], "disease": [{"text": "glioma", "start": 78, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Structural analysis of obscurin gene in hypertrophic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "obscurin", "start": 23, "end": 31}], "disease": [{"text": "hypertrophic cardiomyopathy", "start": 40, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "obscurin", "start": 23, "end": 31}, "tail": {"text": "hypertrophic cardiomyopathy", "start": 40, "end": 67}}]}}, "schema": []}
{"input": "In this study, we showed that apigenin-inhibited expression of HIF-1 and VEGF in different cancer cells under both normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 73, "end": 77}], "disease": [{"text": "hypoxic", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In NF1-associated neurofibromas, most frequent losses were found in chromosomes 17 [17p11. 2-p13 in nine cases (60%); 17q24-25 in 6 cases (40%)] and 19 [19p13. 2 in eight cases (53%); 19q13. 2-qter in eight cases (53%)], whereas in sporadic neurofibromas and schwannomas losses of chromosomes 17 and 19 were detected in less than 50% of cases.", "output": {"entities": {"gene": [{"text": "p13", "start": 93, "end": 96}], "disease": [{"text": "schwannomas", "start": 259, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "In addition, VEGF expression by pRTP801-VEGF was induced under hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 13, "end": 17}], "disease": [{"text": "hypoxia", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The most common translocation in human lymphoma, t (14; 18) (q32; q21), recombines the bcl-2 gene with the immunoglobulin (Ig) heavy-chain locus leading to the production of high levels of chimeric RNAs and the resulting 26 kDa bcl-2 protein.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 87, "end": 97}], "disease": [{"text": "translocation", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "We identified the host Zn (2 +) chelator calprotectin as a neutrophil-associated antifungal agent expressed within NETs, reversibly preventing A nidulans growth at low concentrations, and leading to irreversible fungal starvation at higher concentrations.", "output": {"entities": {"gene": [{"text": "calprotectin", "start": 41, "end": 53}], "disease": [{"text": "starvation", "start": 219, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Worldwide, HCC is most commonly caused by viral hepatitis B and C. It is less frequently associated with chronic exposure to toxins or hereditary liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 11, "end": 14}], "disease": [{"text": "liver diseases", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data indicate an integral role for KRIT1 in microvessel homeostasis and the vascular response to inflammation.", "output": {"entities": {"gene": [{"text": "KRIT1", "start": 55, "end": 60}], "disease": [{"text": "inflammation", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "We conclude that carriers of N291S or combined D9N/-93T--> G mutations in the LPL gene are at substantially increased risk of pre-eclampsia.", "output": {"entities": {"gene": [{"text": "LPL gene", "start": 78, "end": 86}], "disease": [{"text": "pre-eclampsia", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Thus, inactivation of TGF-β signaling and loss of PTEN cooperate to drive intestinal cancer formation and progression by suppressing cell cycle inhibitors.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 50, "end": 54}], "disease": [{"text": "intestinal cancer", "start": 74, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 35, "end": 51}], "disease": [{"text": "childhood onset", "start": 88, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Abnormalities of PAX2, PAX3, PAX6, and PAX9 are associated with various congenital craniofacial anomalies, including tooth abnormalities.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 17, "end": 21}], "disease": [{"text": "tooth abnormalities", "start": 117, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Since MAP kinase have been demonstrated to participate in neuronal stimulus-transcription coupling following seizure activity, the present study investigated the induction of MKP-1 in the rat brain after limbic epilepsy.", "output": {"entities": {"gene": [{"text": "MKP-1", "start": 175, "end": 180}], "disease": [{"text": "epilepsy", "start": 211, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Irradiation and hypoxia promote homing of haematopoietic progenitor cells towards gliomas by TGF-beta-dependent HIF-1alpha-mediated induction of CXCL12.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 93, "end": 101}], "disease": [{"text": "hypoxia", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Somatic cell hybrids between LPL-producing hepatoma cells and non-LPL-producing cells, such as adult rat hepatocytes or fibroblasts, exhibited extinction of LPL gene expression.", "output": {"entities": {"gene": [{"text": "LPL gene", "start": 157, "end": 165}], "disease": [{"text": "hepatoma", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.", "output": {"entities": {"gene": [{"text": "HYLS1", "start": 72, "end": 77}], "disease": [{"text": "Hydrolethalus syndrome", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HYLS1", "start": 72, "end": 77}, "tail": {"text": "Hydrolethalus syndrome", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "We describe what are, to our knowledge, the first reported primary colonic MALT lymphoma carrying t (14; 18) (q32; q21)/IGH-MALT1, and one of the few reported cases of gastric MALT lymphoma with this translocation.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 124, "end": 129}], "disease": [{"text": "translocation", "start": 200, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "We have used a new, rapid sequence analysis technique-comparative sequence analysis (CSA)-to examine the NF1 gene in six patients with NFNS.", "output": {"entities": {"gene": [{"text": "NF1", "start": 105, "end": 108}], "disease": [{"text": "NFNS", "start": 135, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 105, "end": 108}, "tail": {"text": "NFNS", "start": 135, "end": 139}}]}}, "schema": []}
{"input": "Although there is a wealth of evidence linking the IGF signalling pathway with overgrowth and cancer, recent progress in the study of 11p15 and developments in our understanding of the mechanism of genomic imprinting indicate that additional imprinted genes located in this region also contribute to these growth disorders.", "output": {"entities": {"gene": [{"text": "IGF", "start": 51, "end": 54}], "disease": [{"text": "overgrowth", "start": 79, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Our study results show that ovarian fibromas, fibrothecomas, and leiomyomas have a similar immunophenotype (positive for CD56, WT1, ER-beta, and PR) to that of ovarian stromal cells, supporting an ovarian stromal origin for these neoplasms.", "output": {"entities": {"gene": [{"text": "ER-beta", "start": 132, "end": 139}], "disease": [{"text": "fibromas", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the methylation status of 10 genes (p16, p14, runt-related transcript factor-3 (RUNX3), cyclooxygenase-2 (COX-2), E-cadherin, methylated-in-tumor-1 (MINT1), MINT31, HPP1, estrogen receptor, SLC5A8) in UC-CRC tumors and non-neoplastic sections from both UC-CRC cases and UC controls (n = 114 for each) using methylation-specific PCR.", "output": {"entities": {"gene": [{"text": "HPP1", "start": 178, "end": 182}], "disease": [{"text": "non-neoplastic", "start": 232, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Metallothionein 3: an androgen-upregulated gene enhances cell invasion and tumorigenesis of prostate carcinoma cells.", "output": {"entities": {"gene": [{"text": "Metallothionein 3", "start": 0, "end": 17}], "disease": [{"text": "prostate carcinoma", "start": 92, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In our study, we screened HCCs resulting from HCV infection (51 cases), HBV infection (26 cases) or excess alcohol intake (23 cases) for alterations in genes involved in the RB1 pathway (p16 (INK4a), p15 (INK4b), RB1, CDK4 and cyclin D1), the p53 pathway (p53, p14 (ARF) and MDM2) and the Wnt pathway (beta-catenin, APC).", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 302, "end": 314}], "disease": [{"text": "alcohol intake", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We investigated the impact of the fatness-related FTO rs9939609 A-allele on cross-sectional and longitudinal measures of body mass index (BMI), height and lean body mass (LBM) in a unique cohort representing a broad range of BMI.", "output": {"entities": {"gene": [{"text": "FTO", "start": 50, "end": 53}], "disease": [{"text": "height", "start": 144, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "As activin A is a differentiation factor of human endometrium, the present findings support an imbalance between increased activin A and decreased FLRG expression in endometrial cancer, so that the failure of the activin A pathway through FLRG may be pivotal in endometrial tumorigenesis.", "output": {"entities": {"gene": [{"text": "FLRG", "start": 147, "end": 151}], "disease": [{"text": "endometrial cancer", "start": 166, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Using mouse models, three recent papers have shed light on the mechanisms of mutant p53 and its family members, p63 and p73, in tumorigenesis.", "output": {"entities": {"gene": [{"text": "p63", "start": 112, "end": 115}], "disease": [{"text": "tumorigenesis", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "FGFR1 mRNA expression was higher in depression than in the other groups in CA1, CA4 and DG.", "output": {"entities": {"gene": [{"text": "CA1", "start": 75, "end": 78}], "disease": [{"text": "depression", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The transcriptional cofactor Che-1 is an RNA polymerase II (Pol II) which is involved in tumorigenesis, such as breast cancer and multiple myeloma.", "output": {"entities": {"gene": [{"text": "Che-1", "start": 29, "end": 34}], "disease": [{"text": "tumorigenesis", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The carrier role of TTR is well-known; however, many other functions have emerged, namely in the nervous system.", "output": {"entities": {"gene": [{"text": "TTR", "start": 20, "end": 23}], "disease": [{"text": "nervous system", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "NOTCH1 mutations are associated with aortic valve malformations and adult-onset calcification in families with inherited disease.", "output": {"entities": {"gene": [{"text": "NOTCH1", "start": 0, "end": 6}], "disease": [{"text": "calcification", "start": 80, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOTCH1", "start": 0, "end": 6}, "tail": {"text": "calcification", "start": 80, "end": 93}}]}}, "schema": []}
{"input": "A number of neuropsychiatric disorders including autism, schizophrenia, bipolar disorder, major depression, Alzheimer' s disease and lissencephaly share a common feature of abnormal Reelin expression in the brain.", "output": {"entities": {"gene": [{"text": "Reelin", "start": 182, "end": 188}], "disease": [{"text": "major depression", "start": 90, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Reelin", "start": 182, "end": 188}, "tail": {"text": "major depression", "start": 90, "end": 106}}]}}, "schema": []}
{"input": "We investigated the significance of AGXT2 in methylarginine metabolism in vivo and examined the effect of this enzyme on blood pressure.", "output": {"entities": {"gene": [{"text": "AGXT2", "start": 36, "end": 41}], "disease": [{"text": "blood pressure", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Liver expression of key genes related to de novo FA synthesis (LXRα, SREBP1c, ACC1, FAS), FA uptake and transport (PPARγ, CD36, FABP4), FA oxidation (PPARα), and inflammation (IL6, TNFα, CRP, PPARδ) were assessed by RT-qPCR in 127 MO women with normal liver histology (NL, n = 13), simple steatosis (SS, n = 47) and non-alcoholic steatohepatitis (NASH, n = 67).", "output": {"entities": {"gene": [{"text": "IL6", "start": 176, "end": 179}], "disease": [{"text": "alcoholic steatohepatitis", "start": 320, "end": 345}]}, "relations": {}}, "schema": []}
{"input": "However, in those granulomas exhibiting caseous necrosis, very little IFN-gamma or IL-4 mRNA was observed, implying that progression of the granuloma is accompanied by a down regulation of T-cell responses.", "output": {"entities": {"gene": [{"text": "IFN", "start": 70, "end": 73}], "disease": [{"text": "granuloma", "start": 18, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The expression of IL-22 and IL-17A mRNAs in asymptomatic monosensitized seroatopic children suggests a role of these cytokines in the early events involved in the development of these allergic diseases.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 18, "end": 23}], "disease": [{"text": "asymptomatic", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We have identified previously a gene from a human cervical carcinoma cell (HeLa) cDNA expression library that encodes a M (r) approximately 37, 000 c-myc promoter-binding protein (MBP-1), which binds to the TATA box sequences of c-myc P2 promoter and exerts a negative regulatory function by down-regulating c-myc expression.", "output": {"entities": {"gene": [{"text": "myc promoter-binding protein", "start": 150, "end": 178}], "disease": [{"text": "cervical carcinoma", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "At least in some families, as many as 25% of individuals with MFN2 mutations may be asymptomatic and have a normal electrophysiologic examination, although a detailed neuromuscular examination may suggest the trait.", "output": {"entities": {"gene": [{"text": "MFN2", "start": 62, "end": 66}], "disease": [{"text": "asymptomatic", "start": 84, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In the present work, we have tested the possibility that upregulation of the transcription factor interferon regulatory factor 3 (IRF3) can inhibit glioma invasiveness, proliferation and production of pro-inflammatory and pro-angiogenic factors in cultures of malignant glioma cell lines (U271, U87 and SNB-19).", "output": {"entities": {"gene": [{"text": "U87", "start": 295, "end": 298}], "disease": [{"text": "glioma", "start": 148, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Homozygous null mice for thyroid transcription factor (TTF)-2 gene exhibit cleft palate and thyroid malformation.", "output": {"entities": {"gene": [{"text": "TTF", "start": 55, "end": 58}], "disease": [{"text": "cleft palate", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Notably, SphK1 (-/-) mice subjected to AOM had significantly less aberrant crypt foci (ACF) formation and significantly reduced colon cancer development.", "output": {"entities": {"gene": [{"text": "SphK1", "start": 9, "end": 14}], "disease": [{"text": "aberrant crypt foci", "start": 66, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "TRIP6 regulates p27 KIP1 to promote tumorigenesis.", "output": {"entities": {"gene": [{"text": "p27", "start": 16, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that p27 may be an important regulator of cellular proliferation in the anterior pituitary, the underexpression of which could play a role in pituitary tumorigenesis.", "output": {"entities": {"gene": [{"text": "p27", "start": 23, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "These data provide new avenues from which to explore the associations of the prolactin/prolactin receptor signaling network with breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "prolactin receptor", "start": 87, "end": 105}], "disease": [{"text": "tumorigenesis", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "This mouse model has no white fat, resulting in abnormal levels of glucose, insulin, and leptin, making the A-ZIP/F-1 mice a good model for lipodystrophy and insulin resistance.", "output": {"entities": {"gene": [{"text": "ZIP", "start": 110, "end": 113}], "disease": [{"text": "insulin resistance", "start": 158, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ~ 60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases.", "output": {"entities": {"gene": [{"text": "INPPL1", "start": 62, "end": 68}], "disease": [{"text": "opsismodysplasia", "start": 31, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "INPPL1", "start": 62, "end": 68}, "tail": {"text": "opsismodysplasia", "start": 31, "end": 47}}]}}, "schema": []}
{"input": "Novel mixed-lineage kinase protein zipper sterile-alpha-motif kinase (ZAK) was first cloned by our laboratory.", "output": {"entities": {"gene": [{"text": "ZAK", "start": 70, "end": 73}], "disease": [{"text": "sterile", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Downregulation of the E-cadherin cell-cell adhesion molecule is a key event for epithelial to mesenchymal transition (EMT) in tumour progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 118, "end": 121}], "disease": [{"text": "tumour progression", "start": 126, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Genetic alterations and a chaotic tumor microenvironment, such as hypoxia, acidosis, free radicals, and cytokines, are clearly attributed to numerous abnormalities in the expression and signaling of VEGF and its receptors.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 199, "end": 203}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Mice that are nullizygous for Sbf1 exhibit male infertility characterized by azoospermia.", "output": {"entities": {"gene": [{"text": "Sbf1", "start": 30, "end": 34}], "disease": [{"text": "male infertility", "start": 43, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "These results confirm that the increased formation of deoxysphingoid bases is a key feature for HSAN-I as it is associated with all pathogenic SPTLC1 and SPTLC2 mutations reported so far, but also warrant for caution in the interpretation of in vitro data.", "output": {"entities": {"gene": [{"text": "SPTLC1", "start": 143, "end": 149}], "disease": [{"text": "HSAN-I", "start": 96, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPTLC1", "start": 143, "end": 149}, "tail": {"text": "HSAN-I", "start": 96, "end": 102}}]}}, "schema": []}
{"input": "Monocytes of type 1 diabetic patients displayed an increased adhesion to fibronectin in comparison with type 2 patients and healthy control subjects but had a normal expression of the FN binding integrins CD29, CD49a, CD49d, and CD49e (although CD11b and CD18 expression was increased).", "output": {"entities": {"gene": [{"text": "CD49a", "start": 211, "end": 216}], "disease": [{"text": "adhesion", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Investigations of Kv10. 1 in brain metastasis and glioblastoma multiforme (GBM) are lacking.", "output": {"entities": {"gene": [{"text": "Kv10. 1", "start": 18, "end": 25}], "disease": [{"text": "brain metastasis", "start": 29, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Methods In this context, a search was undertaken for mutations in LMNA, encoding Lamins A/C, and ZMPSTE24, LBR, LMNB1, LMNB2, MAN1, SYNE1a and LAP2, encoding Lamins A/C molecular partners, in a Caucasian woman affected with Reynolds syndrome, a particular nosologic entity specifically associating limited cutaneous SSc and primary biliary cirrhosis.", "output": {"entities": {"gene": [{"text": "LAP2", "start": 143, "end": 147}], "disease": [{"text": "primary biliary cirrhosis", "start": 324, "end": 349}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca + + binding in COMP structure and function.", "output": {"entities": {"gene": [{"text": "COMP", "start": 118, "end": 122}], "disease": [{"text": "PSACH", "start": 26, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COMP", "start": 118, "end": 122}, "tail": {"text": "PSACH", "start": 26, "end": 31}}]}}, "schema": []}
{"input": "Our data showed that hypoxia regulated the expression of miR-182 and RASA1 to promote HCC angiogenesis.", "output": {"entities": {"gene": [{"text": "RASA1", "start": 69, "end": 74}], "disease": [{"text": "hypoxia", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.", "output": {"entities": {"gene": [{"text": "PARP-1", "start": 20, "end": 26}], "disease": [{"text": "nephropathy", "start": 210, "end": 221}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP-1", "start": 20, "end": 26}, "tail": {"text": "nephropathy", "start": 210, "end": 221}}]}}, "schema": []}
{"input": "To gain insight into the function of the MLC protein and to elucidate the pathophysiology of these severe neurodegenerative disorders, information on the cellular and regional distribution of the murine Mlc1, as well as the developmental pattern of Mlc1 expression in brain, is required.", "output": {"entities": {"gene": [{"text": "MLC", "start": 41, "end": 44}], "disease": [{"text": "neurodegenerative disorders", "start": 106, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Hb Oegstgeest [alpha104 (G11) Cys--> Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype.", "output": {"entities": {"gene": [{"text": "G11", "start": 25, "end": 28}], "disease": [{"text": "alpha-thalassemia", "start": 100, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "These data suggest a potential role for DAO in susceptibility to depressive symptoms in schizophrenia, but a more general role for DAO in affective disorders cannot be excluded.", "output": {"entities": {"gene": [{"text": "DAO", "start": 40, "end": 43}], "disease": [{"text": "affective disorders", "start": 138, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Novel human pathological mutations. Gene symbol: SLC4A11. Disease: Corneal endothelial dystrophy 2.", "output": {"entities": {"gene": [{"text": "SLC4A11", "start": 49, "end": 56}], "disease": [{"text": "Corneal endothelial dystrophy 2", "start": 67, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC4A11", "start": 49, "end": 56}, "tail": {"text": "Corneal endothelial dystrophy 2", "start": 67, "end": 98}}]}}, "schema": []}
{"input": "Tumors were generated using the radioresistant U87-vIII glioma cell line and GBM9 neurospheres in nude mice.", "output": {"entities": {"gene": [{"text": "U87", "start": 47, "end": 50}], "disease": [{"text": "glioma", "start": 56, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.", "output": {"entities": {"gene": [{"text": "RFX6", "start": 10, "end": 14}], "disease": [{"text": "neonatal onset", "start": 56, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The expression of all other cytokines (LIF, IL-11, CNTF) and receptors (IL-6-R, LIF-R, IL-11-R, OSM-R, CNTF-R) was found in different patterns in the adenoma subtypes and normal pituitaries.", "output": {"entities": {"gene": [{"text": "IL-11", "start": 44, "end": 49}], "disease": [{"text": "adenoma", "start": 150, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "MDR1 RNA levels did not change following glucose starvation or treatment with 2-deoxyglucose and the calcium ionophore A23187, conditions which are known to activate the expression of another family of stress proteins, the glucose-regulated proteins.", "output": {"entities": {"gene": [{"text": "MDR1", "start": 0, "end": 4}], "disease": [{"text": "starvation", "start": 49, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Germ-line mutations of MMR genes in the patients with hereditary nonpolyposis colorectal cancer lead to inactivation of MMR protein functions, and the defects of MMR are well correlated to the high rate of microsatellite instability in their tumors.", "output": {"entities": {"gene": [{"text": "MMR", "start": 23, "end": 26}], "disease": [{"text": "microsatellite instability", "start": 206, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "In LN215 astrocytoma cells, IGF-1 induced the activation of hypoxia-inducible factor-1, leading to increases in EPO mRNA levels and the secretion of EPO.", "output": {"entities": {"gene": [{"text": "EPO", "start": 112, "end": 115}], "disease": [{"text": "astrocytoma", "start": 9, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Results have revealed that smoking and ALDH2 1-1 status were associated with current alcohol consumption (respectively: odds ratio, 23. 3; P < 0. 01 and odds ratio, 14. 5; P < 0. 05).", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 39, "end": 44}], "disease": [{"text": "smoking", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In contrast, induction of adult kidney regeneration by ischemia/reperfusion injury resulted primarily in rapid elevation of BMI-1, whereas EZH2 was silenced.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 139, "end": 143}], "disease": [{"text": "ischemia", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Proliferative (PE), early secretory (ESE), and mid-secretory (MSE) endometrial tissues were obtained from 63 participants with endometriosis (19 mild and 44 severe).", "output": {"entities": {"gene": [{"text": "MSE", "start": 62, "end": 65}], "disease": [{"text": "mild", "start": 145, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Choline supplementation reversed the cold-induced hypothermia in HF-fed Pemt (-/-) mice with no effect on blood pressure.", "output": {"entities": {"gene": [{"text": "Pemt", "start": 72, "end": 76}], "disease": [{"text": "blood pressure", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The hypotheses of (1) gene x environment interaction in the susceptibility to experiment with drugs and (2) hypothalamus-pituitary-adrenal (HPA) axis involvement in mediating the effects of early adverse experiences and gene variants affecting serotonin function on substance abuse vulnerability were tested by investigating in 187 healthy adolescents the possible relevance of 5-HTT \" S \" polymorphism, childhood parental neglect reported retrospectively and HPA axis function to the susceptibility to experiment with illicit drugs.", "output": {"entities": {"gene": [{"text": "HPA", "start": 140, "end": 143}], "disease": [{"text": "substance abuse", "start": 266, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "CHRNA4 mutations have been found in sporadic NFLE, but no mutation in CHRNB2 or CHRNA2 have been reported.", "output": {"entities": {"gene": [{"text": "CHRNB2", "start": 70, "end": 76}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Conversely, mRNA for the non-receptor kinase PTK6/BRK was not detected in normal melanocytes or primary melanoma lines, but was found in 9% of metastatic melanoma cell lines.", "output": {"entities": {"gene": [{"text": "BRK", "start": 50, "end": 53}], "disease": [{"text": "metastatic melanoma", "start": 143, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Transcriptomic analyses were performed in the media and adventitia layers from three types of samples: AAA with-out FDG uptake (A0) and with FDG uptake (A +), both at the positive spot (A + (Pos)) and at a paired distant negative site (A + (Neg)) of the same aneurysm.", "output": {"entities": {"gene": [{"text": "FDG", "start": 116, "end": 119}], "disease": [{"text": "aneurysm", "start": 259, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "We studied the F12 C46T polymorphism in 281 patients who had suffered from an acute myocardial infarction (MI) before 45-year-old and 550 control subjects from the same area.", "output": {"entities": {"gene": [{"text": "F12", "start": 15, "end": 18}], "disease": [{"text": "myocardial infarction", "start": 84, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The antinociception caused by the mixture of compounds seems to involve mechanisms independent of opioid, alpha-adrenergic, serotoninergic, and nitrergic system mediation, since it was not affected by naloxone, prazosin, yohimbine, DL-p-chlorophenylalanine methyl ester, or L-arginine. Interestingly, the i. p. administration of alpha, beta-amyrin reduced the mechanical hyperalgesia produced by i. pl. injection of carrageenan, capsaicin, bradykinin, substance P, prostaglandin E2, 8-Br-cAMP, and TPA in rats.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 440, "end": 450}], "disease": [{"text": "mechanical hyperalgesia", "start": 360, "end": 383}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 440, "end": 450}, "tail": {"text": "mechanical hyperalgesia", "start": 360, "end": 383}}]}}, "schema": []}
{"input": "In this study, we investigated CD99 immunoreactivity using immunohistochemistry and Ewing' s sarcoma/Friend leukaemia virus integration 1 (EWS/FLI1) translocation using the fluorescence in situ hybridization (FISH) method in 23 cases.", "output": {"entities": {"gene": [{"text": "FISH", "start": 209, "end": 213}], "disease": [{"text": "leukaemia", "start": 108, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Reduction of serum PEDF concentration associated with the development of chronic liver diseases may contribute to the progression of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 133, "end": 136}], "disease": [{"text": "liver diseases", "start": 81, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, MUC1 knockdown induced significant reduction of invasive and migration properties of renal cancer cells under hypoxia.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 13, "end": 17}], "disease": [{"text": "hypoxia", "start": 123, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Using FISH, low-level mosaicism could be identified in some cases of primary amenorrhea and suspected Klinefelter syndrome.", "output": {"entities": {"gene": [{"text": "FISH", "start": 6, "end": 10}], "disease": [{"text": "primary amenorrhea", "start": 69, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We studied whether the degree of dysmyelinization in MCT8 gene deficiency according to MR imaging (MRI) is coupled with abnormalities in brain metabolism.", "output": {"entities": {"gene": [{"text": "MCT8", "start": 53, "end": 57}], "disease": [{"text": "abnormalities", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Six genes (DAO, GRM3, GRM4, GRIN2B, IL2RB, and TUBA8) met this criterion for bipolar I disorder; only DAO has been previously associated with bipolar disorder.", "output": {"entities": {"gene": [{"text": "IL2RB", "start": 36, "end": 41}], "disease": [{"text": "bipolar disorder", "start": 142, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL2RB", "start": 36, "end": 41}, "tail": {"text": "bipolar disorder", "start": 142, "end": 158}}]}}, "schema": []}
{"input": "EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.", "output": {"entities": {"gene": [{"text": "EIF2AK3", "start": 0, "end": 7}], "disease": [{"text": "Wolcott-Rallison syndrome", "start": 94, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EIF2AK3", "start": 0, "end": 7}, "tail": {"text": "Wolcott-Rallison syndrome", "start": 94, "end": 119}}]}}, "schema": []}
{"input": "Sequencing analysis of the TMPRSS6 gene in 21 new IRIDA patients from 16 families with different ethnic origin reveal 17 novel mutations, including the most frequent mutation in Southern Italy (p. W590R).", "output": {"entities": {"gene": [{"text": "TMPRSS6", "start": 27, "end": 34}], "disease": [{"text": "IRIDA", "start": 50, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMPRSS6", "start": 27, "end": 34}, "tail": {"text": "IRIDA", "start": 50, "end": 55}}]}}, "schema": []}
{"input": "We evaluated the impact of uteroplacental insufficiency (UPI), and subsequent intrauterine growth restriction (IUGR), on serum testosterone and hippocampal expression of Cyp19a1 variants and aromatase in rats.", "output": {"entities": {"gene": [{"text": "Cyp19a1", "start": 170, "end": 177}], "disease": [{"text": "intrauterine growth restriction", "start": 78, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Affinity purification showed N-Ras to be the predominant activated isoform of Ras in two independent neurofibrosarcoma cell lines from NF1 patients (lines ST88-14 and NF90-8).", "output": {"entities": {"gene": [{"text": "NF90", "start": 167, "end": 171}], "disease": [{"text": "neurofibrosarcoma", "start": 101, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest some roles of TEL in expanding erythroid precursors and accumulating hemoglobin.", "output": {"entities": {"gene": [{"text": "TEL", "start": 35, "end": 38}], "disease": [{"text": "hemoglobin", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We examined these variants located in or near the JAZF1 (rs864745), THADA (rs7578597), TSPAN8 (rs7961581), ADAMTS9 (rs4607103), NOTCH2 (rs10923931) and the CDC123/CAMK1D (rs12779790) genes for associations with measures of pancreatic beta-cell function and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "TSPAN8", "start": 87, "end": 93}], "disease": [{"text": "insulin sensitivity", "start": 257, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetic characterization of this tumor, by conventional G-banding and multicolor spectral karyotyping, revealed multiple clonal chromosomal aberrations, including del (X) (p11. 4) and add (21) (p11. 2).", "output": {"entities": {"gene": [{"text": "p11", "start": 176, "end": 179}], "disease": [{"text": "chromosomal aberrations", "start": 132, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that SHP (-/-) mice exhibited hypoinsulinemia with age, which was associated with increased peripheral insulin sensitivity and increased response of isolated islets to glucose stimulation, yet maintain normal levels of blood glucose.", "output": {"entities": {"gene": [{"text": "SHP", "start": 21, "end": 24}], "disease": [{"text": "insulin sensitivity", "start": 119, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In Zucker rats, used here as a model of liver steatosis, Svct1-2 mRNA levels were similar in obese and lean animals, except for lung tissue, where Svct2 was up-regulated.", "output": {"entities": {"gene": [{"text": "Svct1", "start": 57, "end": 62}], "disease": [{"text": "liver steatosis", "start": 40, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, evidence to suggest that PCAF is involved in the regulation of cellular energy production pathways in hypoxia-mimicking conditions is presented.", "output": {"entities": {"gene": [{"text": "PCAF", "start": 38, "end": 42}], "disease": [{"text": "hypoxia", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The present study was conducted to examine a large series of 36 VHL-related pheochromocytomas for somatic VHL and RET gene alterations and loss of heterozygosity (LOH) of markers on chromosome arms 1p, 3p, and 22q.", "output": {"entities": {"gene": [{"text": "RET gene", "start": 114, "end": 122}], "disease": [{"text": "arms", "start": 193, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Our data, for the first time, reports dysregulation of GR, MR, FKBP5, and PTGES3 in ASD and suggest a possible role of inflammation in altered GR function in ASD.", "output": {"entities": {"gene": [{"text": "PTGES3", "start": 74, "end": 80}], "disease": [{"text": "inflammation", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that deregulated MALT1 expression may occur in B-cell non-Hodgkin lymphoma (B-NHL) of various histologic subtypes either through translocation to the immunoglobulin heavy chain (IGH) locus or by genomic amplification.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 31, "end": 36}], "disease": [{"text": "translocation", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "A small supernumerary marker chromosome (SMC) was observed in a girl with severe developmental delay.", "output": {"entities": {"gene": [{"text": "SMC", "start": 41, "end": 44}], "disease": [{"text": "developmental delay", "start": 81, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "bcl-2 is a marker for the translocation t (14; 18) (q32; q21), which occurs in most follicular-derived B-cell lymphomas.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Eight patients with indolent disease had a BCL2/IgH translocation detectable by PCR.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 43, "end": 47}], "disease": [{"text": "translocation", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations in SDR5C1 cause a disease characterized by progressive neurodegeneration and cardiomyopathy, called HSD10 disease.", "output": {"entities": {"gene": [{"text": "SDR5C1", "start": 22, "end": 28}], "disease": [{"text": "HSD10 disease", "start": 119, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDR5C1", "start": 22, "end": 28}, "tail": {"text": "HSD10 disease", "start": 119, "end": 132}}]}}, "schema": []}
{"input": "Apoptosis inhibitor 2-MALT lymphoma-associated translocation 1 (API12-MALT1) fusion, resulting from t (11; 18) (q21; q21), is specific to, and is the most common in, MALT lymphomas, and its clinicopathological significance has been studied extensively.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 70, "end": 75}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.", "output": {"entities": {"gene": [{"text": "PMM2", "start": 110, "end": 114}], "disease": [{"text": "Carbohydrate-deficient glycoprotein syndrome type 1A", "start": 0, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMM2", "start": 110, "end": 114}, "tail": {"text": "Carbohydrate-deficient glycoprotein syndrome type 1A", "start": 0, "end": 52}}]}}, "schema": []}
{"input": "Through a public database search, we found that a number of genes known to be involved in amino acid metabolism, i. e., AGXT, ALDH2, APIP, MTR, DNMT1, ASH1L, ASPA, CAD, DDC, GCDH, DLD, LAP3, MCEE and MUT, harbor mononucleotide repeats that may serve as mutation targets in cancers exhibiting microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "APIP", "start": 133, "end": 137}], "disease": [{"text": "microsatellite instability", "start": 292, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these data indicate that blockade of Ser16-Hsp20 phosphorylation attenuates the cardioprotective effects of Hsp20 against ischemia/reperfusion injury, which may be attributable to suppressed autophagy and increased cell death.", "output": {"entities": {"gene": [{"text": "Hsp20", "start": 57, "end": 62}], "disease": [{"text": "ischemia", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "TNF alpha and LT alpha gene polymorphisms as additional markers of celiac disease susceptibility in a DQ2-positive population.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 17, "end": 27}], "disease": [{"text": "celiac disease", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Bradykinin (BK) (1 x 10 (-10)-1 x 10 (-8) M/l), in contrast, protected against reperfusion arrhythmias, which corresponded to an increase in energy-rich phosphates and glycogen stores and a decrease in lactate levels in myocardial tissue.", "output": {"entities": {"gene": [{"text": "Bradykinin", "start": 0, "end": 10}], "disease": [{"text": "arrhythmias", "start": 91, "end": 102}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Bradykinin", "start": 0, "end": 10}, "tail": {"text": "arrhythmias", "start": 91, "end": 102}}]}}, "schema": []}
{"input": "However, decreased miR‑145 expression promoted U87 glioma cell proliferation, invasion and angiogenesis, and reduced-expression of miR‑145 increased ADAM17 and EGFR expression in U87 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 47, "end": 50}], "disease": [{"text": "glioma", "start": 51, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "More importantly, high expression of phospho-E47 was associated with an aggressive phenotype of colon cancer and nuclear phospho-E47 staining was found in certain cases of colon cancer with metastasis.", "output": {"entities": {"gene": [{"text": "E47", "start": 45, "end": 48}], "disease": [{"text": "colon cancer", "start": 96, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "A specific heterogeneous enzyme-linked immunosorbent assay (ELISA) has been established in order to determine levels of low-molecular-weight epidermal growth factor (EGF) in the urine of patients with renal cell carcinoma who had undergone unilateral radical nephrectomy.", "output": {"entities": {"gene": [{"text": "EGF", "start": 166, "end": 169}], "disease": [{"text": "weight", "start": 134, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "TAAR 6 and HSP-70 variations associated with bipolar disorder.", "output": {"entities": {"gene": [{"text": "HSP-70", "start": 11, "end": 17}], "disease": [{"text": "bipolar disorder", "start": 45, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSP-70", "start": 11, "end": 17}, "tail": {"text": "bipolar disorder", "start": 45, "end": 61}}]}}, "schema": []}
{"input": "To our knowledge, this study is the first to investigate SOX2' s function in tumorigenesis and apoptosis of human prostate cancer and to elucidate its regulatory effect on the activity of store-operated Ca (2 +) channels.", "output": {"entities": {"gene": [{"text": "SOX2' s", "start": 57, "end": 64}], "disease": [{"text": "tumorigenesis", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Sequence homology searches revealed sequence identities to the human necrosis factor alpha (TNF-alpha) and IL-1 regulated gene TSG-6, fibronectin, osteopontin, calnexin, and the DNA repair enzyme ERCC5.", "output": {"entities": {"gene": [{"text": "DNA repair enzyme", "start": 178, "end": 195}], "disease": [{"text": "necrosis", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the somatic mutations in 89 cutaneous neurofibromas derived from three unrelated NF1 patients with high tumor burden, by loss of heterozygosity (LOH) analysis of the NF1, TP53, RB1, and CDKN2A genes, by assessing microsatellite instability (MSI), by direct sequencing of the NF1, TP53, and several mismatch repair (MMR) genes and by multiplex ligation-dependent probe amplification of the NF1 and TP53 genes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 332, "end": 335}], "disease": [{"text": "neurofibromas", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Mutations in CGI-58 are shown to be responsible for a rare genetic disorder known as Chanarin-Dorfman syndrome, characterized by an excessive accumulation of triacylglycerol in several tissues and ichthyosis.", "output": {"entities": {"gene": [{"text": "CGI-58", "start": 13, "end": 19}], "disease": [{"text": "Chanarin-Dorfman syndrome", "start": 85, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CGI-58", "start": 13, "end": 19}, "tail": {"text": "Chanarin-Dorfman syndrome", "start": 85, "end": 110}}]}}, "schema": []}
{"input": "Our findings show ODZ4 as a risk gene for SCZ, emphasizing the existence of common vulnerability in psychosis.", "output": {"entities": {"gene": [{"text": "ODZ4", "start": 18, "end": 22}], "disease": [{"text": "psychosis", "start": 100, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ODZ4", "start": 18, "end": 22}, "tail": {"text": "psychosis", "start": 100, "end": 109}}]}}, "schema": []}
{"input": "LC3 expression in poorly differentiated CRC is higher than that in well-differentiated CRC, and the expression of mTOR, Raptor, Rictor, and LC3 in lymph node metastasis is higher than that obtained in the absence of lymph node metastasis.", "output": {"entities": {"gene": [{"text": "LC3", "start": 0, "end": 3}], "disease": [{"text": "lymph node metastasis", "start": 147, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Among 14 patients with MAS observed in three centers, 5 had typical cryptogenic myoclonic absence epilepsy (MAE), 2 had MAS associated with other seizure types (1 with signs of a neuronal migration abnormality and 1 with signs of a metabolic disorder), and 7 had MAS, with or without other seizure types, complicating a chromosome abnormality syndrome-2 with trisomy 12p, 4 with Angelman syndrome, and 1 with inv dup (15).", "output": {"entities": {"gene": [{"text": "neuronal migration", "start": 179, "end": 197}], "disease": [{"text": "chromosome abnormality", "start": 320, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "The expression of MIF and interleukin 8 (IL-8) was evaluated in 36 high-grade gliomas (20 glioblastoma multiforme, 13 anaplastic astrocytoma, and 3 anaplastic oligoastrocytoma) and 32 low-grade gliomas (18 fibrillary astrocytoma, 5 pilocytic astrocytoma, 5 oligodendroglioma, 3 ependymoma and 1 pleomorphic xanthoastrocytoma) by immunostaining.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 41, "end": 45}], "disease": [{"text": "pilocytic astrocytoma", "start": 232, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13.", "output": {"entities": {"gene": [{"text": "proton pump", "start": 158, "end": 169}], "disease": [{"text": "bone mineral density", "start": 58, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that the increased detection and visualization of peptide-HLA complexes in HAM/TSP CD4 + CD25 + T cell subsets that are shown to stimulate and expand HTLV-I Tax-specific CD8 + T cells may play an important role in the pathogenesis of HTLV-I-associated neurological disease.", "output": {"entities": {"gene": [{"text": "CD8", "start": 193, "end": 196}], "disease": [{"text": "neurological disease", "start": 275, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "Fasting plasma glucose (FPG), postprandial plasma glucose (PPG), glycated hemoglobin (HbAlc), fasting serum insulin (FINS), postprandial serum insulin (PINS), homeostasis model assessment for insulin resistance (HOMA-IR), serum triglyceride, total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-c) and high-density lipoprotein-cholesterol (HDL-c) were determined before and after repaglinide treatment.", "output": {"entities": {"gene": [{"text": "PINS", "start": 152, "end": 156}], "disease": [{"text": "insulin resistance", "start": 192, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Myeloid-specific beta3-integrin deletion was sufficient to perturb bone mass and enhance tumor growth due to reduced macrophage infiltration in the tumors.", "output": {"entities": {"gene": [{"text": "beta3", "start": 17, "end": 22}], "disease": [{"text": "bone mass", "start": 67, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "To determine the role of KLF2 in streptozotocin-induced diabetic nephropathy, we used endothelial cell-specific Klf2 heterozygous knockout mice and found that diabetic knockout mice developed more kidney/glomerular hypertrophy and proteinuria than diabetic wild-type mice.", "output": {"entities": {"gene": [{"text": "Klf2", "start": 112, "end": 116}], "disease": [{"text": "proteinuria", "start": 231, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Women with the variant SP-B polymorphism also had significantly increased odds of having a direct pulmonary injury such as aspiration or pneumonia as a risk factor for ARDS as opposed to an indirect pulmonary risk for ARDS (OR, 4. 6; 95% CI, 1. 1 to 19. 9; p = 0. 04).", "output": {"entities": {"gene": [{"text": "SP-B", "start": 23, "end": 27}], "disease": [{"text": "aspiration", "start": 123, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "To identify molecular markers of tumor hypoxia and potential therapeutic targets in glioblastoma (GBM), we investigated the hypoxia-related expression of osteopontin (OPN), carbonic anhydrase 9 (CA9), erythropoietin (EPO), vascular endothelial growth factor (VEGF) and hypoxia-inducible factor-1alpha (HIF-1alpha) in vitro in human GBM cell lines and in vivo in human tumor samples of GBM, compared to low-grade astrocytoma (LGA).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 259, "end": 263}], "disease": [{"text": "hypoxia", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.", "output": {"entities": {"gene": [{"text": "NOG", "start": 17, "end": 20}], "disease": [{"text": "proximal symphalangism", "start": 46, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOG", "start": 17, "end": 20}, "tail": {"text": "proximal symphalangism", "start": 46, "end": 68}}]}}, "schema": []}
{"input": "The bcl-2 oncoprotein, which is involved in the t (14, 18) translocation, protects cells against apoptosis.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 4, "end": 9}], "disease": [{"text": "translocation", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Guggulsterone reduced the viability of esophageal cancer cells in a time-dependent and dose-dependent manner, whereas this effect was diminished after knockdown of FXR expression.", "output": {"entities": {"gene": [{"text": "FXR", "start": 164, "end": 167}], "disease": [{"text": "esophageal cancer", "start": 39, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Sirt1 was induced to a greater extent in rats with severe ARF.", "output": {"entities": {"gene": [{"text": "Sirt1", "start": 0, "end": 5}], "disease": [{"text": "ARF", "start": 58, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Sirt1", "start": 0, "end": 5}, "tail": {"text": "ARF", "start": 58, "end": 61}}]}}, "schema": []}
{"input": "Vascular endothelial cell growth factor A (VEGF-A) and hypoxia play important roles in tumor angiogenesis.", "output": {"entities": {"gene": [{"text": "endothelial cell growth factor", "start": 9, "end": 39}], "disease": [{"text": "tumor angiogenesis", "start": 87, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Critically, we show that the predicted peptide product resulting from the Scottish translocation removes the interaction domain for Nudel.", "output": {"entities": {"gene": [{"text": "Nudel", "start": 132, "end": 137}], "disease": [{"text": "translocation", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The array data indicated that the initial processes that occur after SAH involve activation of genes involved in angiogenesis, inflammation, and extracellular matrix (ECM) remodeling.", "output": {"entities": {"gene": [{"text": "SAH", "start": 69, "end": 72}], "disease": [{"text": "inflammation", "start": 127, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We used qRT-PCR and immunoblotting to examine the molecular interplay between MT1-MMP and COX-2 gene and protein expression in parental, CD133 (+), and neurospheres U87 glioma cell cultures.", "output": {"entities": {"gene": [{"text": "U87", "start": 165, "end": 168}], "disease": [{"text": "glioma", "start": 169, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The results revealed that EEET increased myocardial hypertrophy (LV weight/tibial length), myocyte cross-sectional area, hypertrophy-related pathways (IL6/STAT3-MEK5-ERK5, calcineurin-NFATc3, p38 and JNK MAPK), hypertrophic markers (ANP/BNP), pro-apoptotic molecules (cytochrome C, cleaved caspase-3 and PARP), and fibrosis-related pathways (FGF-2-ERK1/2) and fibrosis markers (uPA, MMP-9 and-2).", "output": {"entities": {"gene": [{"text": "PARP", "start": 304, "end": 308}], "disease": [{"text": "weight", "start": 68, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Increases in ceruloplasmin may result in increased levels of copper, which ultimately proves deleterious in schizophrenia.", "output": {"entities": {"gene": [{"text": "ceruloplasmin", "start": 13, "end": 26}], "disease": [{"text": "schizophrenia", "start": 108, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ceruloplasmin", "start": 13, "end": 26}, "tail": {"text": "schizophrenia", "start": 108, "end": 121}}]}}, "schema": []}
{"input": "Intestinal water content, myeloperoxidase activity, and TNF-α, IL-6, intercellular adhesion molecule 1, cytokine-induced neutrophil chemoattractant (CINC) 1, and CINC-3 levels and edema of the lung were measured.", "output": {"entities": {"gene": [{"text": "intercellular adhesion molecule 1", "start": 69, "end": 102}], "disease": [{"text": "edema", "start": 180, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Nucleotide excision repair (NER) genes encode enzymes that remove adducts and may be independently associated with HNC, as well as modifiers of the association between smoking and HNC.", "output": {"entities": {"gene": [{"text": "NER", "start": 28, "end": 31}], "disease": [{"text": "smoking", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Liver fat accumulation and the I148M variant of PNPLA3 are associated with serum Fetuin-A levels independently of insulin resistance.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 48, "end": 54}], "disease": [{"text": "insulin resistance", "start": 114, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The deficit in bladder contraction was also found in mice lacking only the beta4 subunit, although they did not develop megacystis.", "output": {"entities": {"gene": [{"text": "beta4", "start": 75, "end": 80}], "disease": [{"text": "megacystis", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.", "output": {"entities": {"gene": [{"text": "OCRL1", "start": 122, "end": 127}], "disease": [{"text": "Lowe syndrome", "start": 97, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OCRL1", "start": 122, "end": 127}, "tail": {"text": "Lowe syndrome", "start": 97, "end": 110}}]}}, "schema": []}
{"input": "While the patient suffered from rapid deterioration of her general condition, in particular from progressive dyspnea due to lung metastases, we implemented screening for RET-and ROS1 translocations into our molecular diagnostic program based on recent reports of these new molecular subgroups in lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "ROS1", "start": 178, "end": 182}], "disease": [{"text": "dyspnea", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In the Finnish NAP Cohort, having a mother with schizophrenia was associated with APA (Odds Ratio [OR] for linear trend = 1. 20, 95% confidence interval 1. 12-1. 29, p < 0. 01).", "output": {"entities": {"gene": [{"text": "APA", "start": 82, "end": 85}], "disease": [{"text": "schizophrenia", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia and is sometimes associated with cleft lip/palate (CLP).", "output": {"entities": {"gene": [{"text": "CLP", "start": 152, "end": 155}], "disease": [{"text": "anosmia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Sorafenib inhibits endogenous and IL-6/S1P induced JAK2-STAT3 signaling in human neuroblastoma, associated with growth suppression and apoptosis.", "output": {"entities": {"gene": [{"text": "S1P", "start": 39, "end": 42}], "disease": [{"text": "neuroblastoma", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of an NUP98 translocation in lymphocytic leukemia and the first time that RAP1GDS1 has been implicated in any human malignancy.", "output": {"entities": {"gene": [{"text": "RAP1GDS1", "start": 99, "end": 107}], "disease": [{"text": "translocation", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.", "output": {"entities": {"gene": [{"text": "GLIALCAM", "start": 67, "end": 75}], "disease": [{"text": "epilepsy", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD.", "output": {"entities": {"gene": [{"text": "ACTA2", "start": 76, "end": 81}], "disease": [{"text": "Moyamoya disease", "start": 268, "end": 284}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACTA2", "start": 76, "end": 81}, "tail": {"text": "Moyamoya disease", "start": 268, "end": 284}}]}}, "schema": []}
{"input": "Overall, our data reveal that GDF1 in the heart is a novel mediator that protects against the development of post-infarction cardiac remodelling via negative regulation of the MEK-ERK1/2 and Smad signalling pathways.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 180, "end": 184}], "disease": [{"text": "infarction", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The p53 inhibitor MDM2 facilitates Sonic Hedgehog-mediated tumorigenesis and influences cerebellar foliation.", "output": {"entities": {"gene": [{"text": "Sonic Hedgehog", "start": 35, "end": 49}], "disease": [{"text": "tumorigenesis", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The present study is the first to report mutations in GPD1-L as a pathogenic cause for a small subset of sudden infant death syndrome via a secondary loss-of-function mechanism whereby perturbations in GPD1-L precipitate a marked decrease in the peak sodium current and a potentially lethal BrS-like proarrhythmic substrate.", "output": {"entities": {"gene": [{"text": "GPD1", "start": 54, "end": 58}], "disease": [{"text": "secondary", "start": 140, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Kynurenine Signaling Increases DNA Polymerase Kappa Expression and Promotes Genomic Instability in Glioblastoma Cells.", "output": {"entities": {"gene": [{"text": "DNA Polymerase Kappa", "start": 31, "end": 51}], "disease": [{"text": "Glioblastoma", "start": 99, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNA Polymerase Kappa", "start": 31, "end": 51}, "tail": {"text": "Glioblastoma", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "The current study was designed to assess the involvement of NEP in ischemia-induced acute renal failure (ARF).", "output": {"entities": {"gene": [{"text": "NEP", "start": 60, "end": 63}], "disease": [{"text": "acute renal failure", "start": 84, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "A strong cytoplasmic MIF positivity was found in most samples, although it was more heterogeneous in malignant tumours; MIF nuclear expression characterized Spitz/blue nevi, atypical nevi, melanomas and metastases.", "output": {"entities": {"gene": [{"text": "MIF", "start": 21, "end": 24}], "disease": [{"text": "blue nevi", "start": 163, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.", "output": {"entities": {"gene": [{"text": "CD133", "start": 24, "end": 29}], "disease": [{"text": "major depression", "start": 201, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD133", "start": 24, "end": 29}, "tail": {"text": "major depression", "start": 201, "end": 217}}]}}, "schema": []}
{"input": "Taken together, we suggest that NTHI-induced SLF-derived MCP-1/CCL2 is a key molecule contributing to inner ear inflammation through CCR2-mediated recruitment of monocytes.", "output": {"entities": {"gene": [{"text": "SLF", "start": 45, "end": 48}], "disease": [{"text": "ear inflammation", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Vascular permeability factor/vascular endothelial growth factor (VPF/VEGF) has been shown to be up-regulated in the vicinity of necrotic tumor areas, and hypoxia potently induces VPF/VEGF expression in several tumor cell lines in vitro.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 69, "end": 73}], "disease": [{"text": "hypoxia", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Leukemia cells with low levels of MSH2 contained partial or complete somatic deletions of one to four genes that regulate MSH2 degradation (FRAP1 (also known as MTOR), HERC1, PRKCZ and PIK3C2B); we also found these deletions in individuals with adult acute lymphoblastic leukemia (16%) and sporadic colorectal cancer (13. 5%).", "output": {"entities": {"gene": [{"text": "HERC1", "start": 168, "end": 173}], "disease": [{"text": "sporadic", "start": 290, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "The median left ventricular mass index measured with echocardiography was normal in all the 3 subgroups. cTnT mRNA expression in skeletal muscle was not detectable in controls but was strongly induced in patients with Pompe disease. cTnT protein was identified by mass spectrometry in patient-derived skeletal muscle tissue.", "output": {"entities": {"gene": [{"text": "cTnT", "start": 105, "end": 109}], "disease": [{"text": "Pompe disease", "start": 218, "end": 231}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cTnT", "start": 105, "end": 109}, "tail": {"text": "Pompe disease", "start": 218, "end": 231}}]}}, "schema": []}
{"input": "Two patients with infantile hepatic dysfunction were found to have a novel mutation of the SLC25A13 gene.", "output": {"entities": {"gene": [{"text": "SLC25A13 gene", "start": 91, "end": 104}], "disease": [{"text": "hepatic dysfunction", "start": 28, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The clinical course of these patients suggests that NRAS mosaicism may be associated with a mild disease phenotype in JMML.", "output": {"entities": {"gene": [{"text": "NRAS", "start": 52, "end": 56}], "disease": [{"text": "JMML", "start": 118, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NRAS", "start": 52, "end": 56}, "tail": {"text": "JMML", "start": 118, "end": 122}}]}}, "schema": []}
{"input": "We conducted a study in patients presenting with acute myocardial infarction (MI) to assess whether factor V Leiden increases the risk of arterial thrombosis.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 100, "end": 115}], "disease": [{"text": "arterial thrombosis", "start": 138, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "To study whether interleukin-8 (IL-8) mRNA in vaginal secretions is associated with congenital infection and preterm delivery in the case of preterm labor with intact membranes.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 32, "end": 36}], "disease": [{"text": "preterm delivery", "start": 109, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The expression of c-Myc and cardiac death promoting gene Bnip3 were increased, and Pgc1-α and Ppar-α a decreased following T-H. Eleven tRNA transcripts on mtDNA were upregulated following T-H in the aged animals, compared with the sham group.", "output": {"entities": {"gene": [{"text": "c-Myc", "start": 18, "end": 23}], "disease": [{"text": "cardiac death", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of hernias of the abdominal region in affected individuals with PPCD associated with TCF8 mutations was significantly higher than the prevalence in both individuals with PPCD not associated with a TCF8 mutation and in unaffected individuals.", "output": {"entities": {"gene": [{"text": "TCF8", "start": 100, "end": 104}], "disease": [{"text": "hernias", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The present study searched for a mutation in the TNF-alpha gene by single-strand conformation polymorphism analysis (SSCP) in patients with narcolepsy.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 53, "end": 63}], "disease": [{"text": "narcolepsy", "start": 140, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We employed a large-insert (7-11 kb) paired-end tag sequencing technology (DNA-PET) to systematically analyze genome of four patients harbouring cytogenetically defined ABCR with neurodevelopmental symptoms, including developmental delay (DD) and speech disorders.", "output": {"entities": {"gene": [{"text": "ABCR", "start": 169, "end": 173}], "disease": [{"text": "developmental delay", "start": 218, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the CETP-TaqIB polymorphism has a quantitative influence, but appears to be stronger one in men, on HDL-C levels even after adjustment for important lifestyle factors (smoking, alcohol drinking, and daily physical activity).", "output": {"entities": {"gene": [{"text": "CETP", "start": 21, "end": 25}], "disease": [{"text": "alcohol drinking", "start": 194, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Four of these molecular abnormalities (R142Q, L161Q, S219F, P235S) are missense mutations, one (Q206X) is a nonsense mutation, one (IVS8-1 G > C) is a splicing defect causing the exon 9 deletion and one (1107 G > A) is located in the 3' untranslated region of UROD gene.", "output": {"entities": {"gene": [{"text": "UROD gene", "start": 260, "end": 269}], "disease": [{"text": "abnormalities", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1 patient.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 60, "end": 65}], "disease": [{"text": "TD1", "start": 85, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 60, "end": 65}, "tail": {"text": "TD1", "start": 85, "end": 88}}]}}, "schema": []}
{"input": "Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.", "output": {"entities": {"gene": [{"text": "GCM2", "start": 74, "end": 78}], "disease": [{"text": "familial isolated hypoparathyroidism", "start": 102, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GCM2", "start": 74, "end": 78}, "tail": {"text": "familial isolated hypoparathyroidism", "start": 102, "end": 138}}]}}, "schema": []}
{"input": "Renal Hsp72 mRNA and protein, as well as urinary Hsp72 levels, gradually increased relative to the extent of renal injury induced by different periods of ischemia quantified by histomorphometry as a benchmark of kidney damage.", "output": {"entities": {"gene": [{"text": "Hsp72", "start": 6, "end": 11}], "disease": [{"text": "ischemia", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The ACE genotype was associated neither with left ventricular mass nor with the prevalence of left ventricular hypertrophy.", "output": {"entities": {"gene": [{"text": "ACE", "start": 4, "end": 7}], "disease": [{"text": "left ventricular mass", "start": 45, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Eighteen pituitary adenoma biopsies removed in transsphenoidal surgery (six corticotrophic adenomas, four nonfunctioning adenomas, four somatotrophinomas, four prolactinomas) and six normal anterior pituitaries were examined for the expression of IL-6 receptor (-R), leukemia inhibitory factor (LIF), LIF-R, IL-11, IL-11-R, oncostatin M (OSM), OSM-R, ciliary neurotrophic factor (CNTF), CNTF-R and cardiotrophin-1 (CT-1).", "output": {"entities": {"gene": [{"text": "CT-1", "start": 415, "end": 419}], "disease": [{"text": "pituitary adenoma", "start": 9, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Association of polymorphisms of the receptor for advanced glycation end products gene and susceptibility to sporadic abdominal aortic aneurysm.", "output": {"entities": {"gene": [{"text": "receptor for advanced glycation end products", "start": 36, "end": 80}], "disease": [{"text": "sporadic", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of amyloid pathology increased from age 50 to 90 years from 10% (95% CI, 8%-13%) to 44% (95% CI, 37%-51%) among participants with normal cognition; from 12% (95% CI, 8%-18%) to 43% (95% CI, 32%-55%) among patients with SCI; and from 27% (95% CI, 23%-32%) to 71% (95% CI, 66%-76%) among patients with MCI.", "output": {"entities": {"gene": [{"text": "MCI", "start": 315, "end": 318}], "disease": [{"text": "normal cognition", "start": 145, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "SCARA3 mRNA is overexpressed in ovarian carcinoma compared with breast carcinoma effusions.", "output": {"entities": {"gene": [{"text": "SCARA3", "start": 0, "end": 6}], "disease": [{"text": "ovarian carcinoma", "start": 32, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Anderson' s disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.", "output": {"entities": {"gene": [{"text": "SAR1B gene", "start": 111, "end": 121}], "disease": [{"text": "uniparental disomy", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex.", "output": {"entities": {"gene": [{"text": "SKIV2L", "start": 117, "end": 123}], "disease": [{"text": "Syndromic diarrhea", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SKIV2L", "start": 117, "end": 123}, "tail": {"text": "Syndromic diarrhea", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "Forced overexpression of the miR-17-92 cluster or its members, miR-92a and miR-19a, in cultured human cholangiocarcinoma cells enhanced tumor cell proliferation, colony formation, and invasiveness, in vitro.", "output": {"entities": {"gene": [{"text": "19a", "start": 79, "end": 82}], "disease": [{"text": "cholangiocarcinoma", "start": 102, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "In vivo, transplantation with O-TIMP3, O-VEGF, or Y-hMSCs increased capillary density, preserved cardiac function, and reduced infarct size compared to O-hMSCs and medium control.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 41, "end": 45}], "disease": [{"text": "infarct", "start": 127, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate for the first time that the ECRG2 STR is a genetic susceptibility factor for ESCC and the TCA3/TCA3 allele might play a role in the development of this cancer.", "output": {"entities": {"gene": [{"text": "STR", "start": 58, "end": 61}], "disease": [{"text": "cancer", "start": 176, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Identification of CARS-ALK fusion in primary and metastatic lesions of an inflammatory myofibroblastic tumor.", "output": {"entities": {"gene": [{"text": "CARS", "start": 18, "end": 22}], "disease": [{"text": "inflammatory myofibroblastic tumor", "start": 74, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CARS", "start": 18, "end": 22}, "tail": {"text": "inflammatory myofibroblastic tumor", "start": 74, "end": 108}}]}}, "schema": []}
{"input": "These findings point to EIF2AK4 as the major gene that is linked to PVOD development and contribute toward an understanding of the complex genetic architecture of pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "EIF2AK4", "start": 24, "end": 31}], "disease": [{"text": "PVOD", "start": 68, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EIF2AK4", "start": 24, "end": 31}, "tail": {"text": "PVOD", "start": 68, "end": 72}}]}}, "schema": []}
{"input": "We have directly tested the importance of the SCFskp-mediated degradation of p27 in tumorigenesis by analyzing the tumor susceptibility of mice that express a form of p27 that cannot be ubiquitinated and degraded by this pathway (p27T187A).", "output": {"entities": {"gene": [{"text": "p27", "start": 77, "end": 80}], "disease": [{"text": "tumorigenesis", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Genetic knockdown of MMP14 in U87 and U251 glioma cells induced G2/M arrest and decreased proliferation.", "output": {"entities": {"gene": [{"text": "U87", "start": 30, "end": 33}], "disease": [{"text": "glioma", "start": 43, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Using suppression subtractive hybridization and a microarray analysis to identify drug resistance-associated DNA repair-related genes, we found that the mRNA levels of ERCC1, MSH-3, MSH-6 and XPC were significantly increased in LADC patients.", "output": {"entities": {"gene": [{"text": "MSH-3", "start": 175, "end": 180}], "disease": [{"text": "LADC", "start": 228, "end": 232}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MSH-3", "start": 175, "end": 180}, "tail": {"text": "LADC", "start": 228, "end": 232}}]}}, "schema": []}
{"input": "Overexpression of SRF in colorectal carcinoma cells enhanced cell motility and invasiveness.", "output": {"entities": {"gene": [{"text": "SRF", "start": 18, "end": 21}], "disease": [{"text": "colorectal carcinoma", "start": 25, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Homozygous male pseudohermaphrodites with SRD5A2 or 17 beta HSD3 gene defects were phenotypically distinguishable by the presence of mild gynecomastia in the latter.", "output": {"entities": {"gene": [{"text": "HSD3", "start": 60, "end": 64}], "disease": [{"text": "mild", "start": 133, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.", "output": {"entities": {"gene": [{"text": "RAI1", "start": 48, "end": 52}], "disease": [{"text": "schizophrenia", "start": 77, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAI1", "start": 48, "end": 52}, "tail": {"text": "schizophrenia", "start": 77, "end": 90}}]}}, "schema": []}
{"input": "In a multivariate Cox regression model, adjusted for T-category, only presence of MET Y1253D was associated with decreased distant metastasis-free survival: hazard ratio = 2. 5 (95% confidence interval: 1. 1, 5. 8).", "output": {"entities": {"gene": [{"text": "MET", "start": 82, "end": 85}], "disease": [{"text": "regression", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Co-infected patients had decreased intrahepatic mRNA levels of IFN-gamma (P = 0. 09), IL-4 (P = 0. 05) and IL-12p35 (P = 0. 04) compared with mono-infected patients, while IL-10 was increased (P = 0. 07).", "output": {"entities": {"gene": [{"text": "IFN", "start": 63, "end": 66}], "disease": [{"text": "mono", "start": 142, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The ALMS1 gene, which is mutated in Alström syndrome, encodes a giant 460 kDa centrosome-and basal body-associated protein.", "output": {"entities": {"gene": [{"text": "ALMS1 gene", "start": 4, "end": 14}], "disease": [{"text": "giant", "start": 64, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In addition, it was verified by immunohistochemical analysis that the expressions of Calgranulin A, Calgranulin B, and Cathepsin D were mainly located in cholesteatoma epithelium.", "output": {"entities": {"gene": [{"text": "Calgranulin A", "start": 85, "end": 98}], "disease": [{"text": "cholesteatoma", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that two different missense mutations in WNT5A, which result in amino acid substitutions of highly conserved cysteines, are associated with autosomal dominant Robinow syndrome.", "output": {"entities": {"gene": [{"text": "WNT5A", "start": 55, "end": 60}], "disease": [{"text": "Robinow syndrome", "start": 173, "end": 189}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT5A", "start": 55, "end": 60}, "tail": {"text": "Robinow syndrome", "start": 173, "end": 189}}]}}, "schema": []}
{"input": "The objective of this study was to determine differential expression of POSTN, IL-4, and IL-13 genes in the mucosa and polyps of 63 patients with CRSwNP and 23 chronic rhinosinusitis (CRS) without nasal polyps (CRSsNP) when compared with patients with nasal septum deviation (n = 18) who were used as controls.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 79, "end": 83}], "disease": [{"text": "nasal septum deviation", "start": 252, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "These cases, and a further five reported cases of point mutations causing FRDA, demonstrate that splicing, nonsense, or initiation codon mutations (which cause a complete absence of functional frataxin) are associated with a severe phenotype.", "output": {"entities": {"gene": [{"text": "frataxin", "start": 193, "end": 201}], "disease": [{"text": "FRDA", "start": 74, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "frataxin", "start": 193, "end": 201}, "tail": {"text": "FRDA", "start": 74, "end": 78}}]}}, "schema": []}
{"input": "The second SNP lies within the SLC7A9 gene, rare mutations of which have been linked to severe kidney damage.", "output": {"entities": {"gene": [{"text": "SLC7A9 gene", "start": 31, "end": 42}], "disease": [{"text": "kidney damage", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "To determine the presence of microsatellite instability (MSI) and to assess the expression of the human mismatch repair (MMR) gene products hMLH1 and hMSH2 in primary transitional cell carcinomas (TCCs) of the urinary bladder in relation to clinico-pathological parameters.", "output": {"entities": {"gene": [{"text": "MMR", "start": 121, "end": 124}], "disease": [{"text": "microsatellite instability", "start": 29, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "mRNA for Abcc8, which encodes SUR1, and SUR1 protein were abundantly upregulated in cortex adjacent to SAH, where tumor-necrosis factor-alpha (TNFalpha) and nuclear factor (NF) kappaB signaling were prominent.", "output": {"entities": {"gene": [{"text": "SAH", "start": 103, "end": 106}], "disease": [{"text": "necrosis", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "There was a significant relationship between serum levels of vitamin D with ionized Ca, PTH, ALP, type of clothing, and egg consumption, while no significant relationship was found between serum levels of vitamin D with age, residency, menstruation status, skin color, sun light exposure, body mass index, waist to hip ratio, exercise, physical activity, fish consumption, and polymorphisms in exon 9 of VDR gene.", "output": {"entities": {"gene": [{"text": "VDR gene", "start": 404, "end": 412}], "disease": [{"text": "skin color", "start": 257, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Expression of PAX8 or PAX2 in both nephrogenic adenoma and clear cell adenocarcinoma of the lower urinary tract may indicate a possible related tissue origin for these 2 lesions; both may be derived from proliferating renal tubular cells in the urinary tract.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 22, "end": 26}], "disease": [{"text": "nephrogenic adenoma", "start": 35, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The present novel finding of induced expression of mGluR8 in astrocytes APISE suggests that it may be linked to gliosis.", "output": {"entities": {"gene": [{"text": "mGluR8", "start": 51, "end": 57}], "disease": [{"text": "gliosis", "start": 112, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR8", "start": 51, "end": 57}, "tail": {"text": "gliosis", "start": 112, "end": 119}}]}}, "schema": []}
{"input": "No difference was present between groups of ACE polymorphism when 24-h ambulatory blood pressure measurement values, retinal vascular changes and microalbuminuria were taken into account.", "output": {"entities": {"gene": [{"text": "ACE", "start": 44, "end": 47}], "disease": [{"text": "microalbuminuria", "start": 146, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The elevated levels of CaMKIIbeta mRNA in the striatum suggest that this enzyme may increase D2 (High) in animals and possibly in schizophrenia itself.", "output": {"entities": {"gene": [{"text": "CaMKIIbeta", "start": 23, "end": 33}], "disease": [{"text": "schizophrenia", "start": 130, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CaMKIIbeta", "start": 23, "end": 33}, "tail": {"text": "schizophrenia", "start": 130, "end": 143}}]}}, "schema": []}
{"input": "Functional analysis of the two frequently mutated ADAM genes, ADAM29 and ADAM7 demonstrated that the mutations affect adhesion of melanoma cells to specific extracellular matrix proteins and in some cases increase their migration ability.", "output": {"entities": {"gene": [{"text": "ADAM7", "start": 73, "end": 78}], "disease": [{"text": "adhesion", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In addition, MSC-PEDF treatment prolonged the survival of mice bearing U87 gliomas.", "output": {"entities": {"gene": [{"text": "U87", "start": 71, "end": 74}], "disease": [{"text": "gliomas", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Prodynorphin and kappa opioid receptor mRNA expression in the cingulate and prefrontal cortices of subjects diagnosed with schizophrenia or affective disorders.", "output": {"entities": {"gene": [{"text": "kappa opioid receptor", "start": 17, "end": 38}], "disease": [{"text": "affective disorders", "start": 140, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "kappa opioid receptor", "start": 17, "end": 38}, "tail": {"text": "affective disorders", "start": 140, "end": 159}}]}}, "schema": []}
{"input": "Various inhibitors of histone deacetylase (HDAC) activity can sensitize drug resistant cancer cells to chemotherapeutic agents.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 43, "end": 47}], "disease": [{"text": "resistant cancer", "start": 77, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The serotonin transporter-linked polymorphic region (5-HTTLPR) short allele confers a general sensitivity to environmental stimuli, and anger is suspected to have a direct influence on aggressive behavior in schizophrenia.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 4, "end": 25}], "disease": [{"text": "aggressive behavior", "start": 185, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Apomorphine challenge tests measuring GH responses on 5 time points were performed on day 1 of alcohol detoxification in 43 patients with alcohol dependence; patients were genotyped for 11 polymorphisms including DRD2, ANKK1, NCAM1 and TTC12.", "output": {"entities": {"gene": [{"text": "GH", "start": 38, "end": 40}], "disease": [{"text": "alcohol dependence", "start": 138, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GH", "start": 38, "end": 40}, "tail": {"text": "alcohol dependence", "start": 138, "end": 156}}]}}, "schema": []}
{"input": "A health questionnaire based on parental observations of clinical signs of fatty acid deficiency (FAD) showed that patients with autism and Asperger' s syndrome (ASP) had significantly higher FAD scores (6. 34 +/-4. 37 and 7. 64 +/-6. 20, respectively) compared to controls (1. 78 +/-1. 68).", "output": {"entities": {"gene": [{"text": "ASP", "start": 162, "end": 165}], "disease": [{"text": "autism", "start": 129, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The TT virus (TTV) was discovered in patients with symptomatic posttransfusion hepatitis, but many viremic individuals are asymptomatic.", "output": {"entities": {"gene": [{"text": "TTV", "start": 14, "end": 17}], "disease": [{"text": "asymptomatic", "start": 123, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Our data identify a molecular mechanism in the cardiomyocyte involving the oxidative stress-derived lipid peroxidation byproduct HNE and the LKB1/AMPK signaling pathway that contributes to the development of left ventricular hypertrophy.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 141, "end": 145}], "disease": [{"text": "left ventricular hypertrophy", "start": 208, "end": 236}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LKB1", "start": 141, "end": 145}, "tail": {"text": "left ventricular hypertrophy", "start": 208, "end": 236}}]}}, "schema": []}
{"input": "In the Ewing' s sarcoma and fibromatosis samples, two sarcomas where miR-182-5p is significantly downregulated, multiple predicted targets were significantly upregulated, including HMCN1, NKX2-2, SCNN1G, and SOX2.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 208, "end": 212}], "disease": [{"text": "fibromatosis", "start": 28, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Among the selected aptamers, EP166 specifically binds to cells expressing EpCAM with an equilibrium dissociation constant (Kd) in a micromolar range.", "output": {"entities": {"gene": [{"text": "EpCAM", "start": 74, "end": 79}], "disease": [{"text": "dissociation", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der (11); therefore a cytogenetically invisible pericentric inversion in chromosome 11 must have taken place besides the translocation.", "output": {"entities": {"gene": [{"text": "RELA", "start": 58, "end": 62}], "disease": [{"text": "translocation", "start": 215, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "A slight increase of survival of mice xenografted with a wild-type EGFR-overexpressing U87 MG glioma (U87 MG. wtEGFR) was effected by mAb 806 concordant with its weak cross-reactivity with such cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 87, "end": 90}], "disease": [{"text": "glioma", "start": 94, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Niclosamide has the potential to target the IL6-Stat3-AR pathway to overcome enzalutamide resistance and inhibit migration and invasion in advanced prostate cancer.", "output": {"entities": {"gene": [{"text": "IL6", "start": 44, "end": 47}], "disease": [{"text": "prostate cancer", "start": 148, "end": 163}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL6", "start": 44, "end": 47}, "tail": {"text": "prostate cancer", "start": 148, "end": 163}}]}}, "schema": []}
{"input": "To understand the mechanisms involved in pancreatic cancer adaptation to hypoxia, we analyzed expression of a regulator of hypoxia-induced cell death, Bcl-2/adenovirus E1B 19 kDa interacting protein 3 (BNIP3).", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 202, "end": 207}], "disease": [{"text": "adenovirus", "start": 157, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Drusenlike deposits were more selectively observed in patients with mutations in the AIPL1, CRB1, RPE65, and RPGRIP1 genes, whereas focal regions of peripheral chorioretinal atrophy were observed only in patients with AIPL1 or RPE65 variations.", "output": {"entities": {"gene": [{"text": "RPE65", "start": 98, "end": 103}], "disease": [{"text": "chorioretinal atrophy", "start": 160, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We explored the role of disordered pituitary cell proliferation control in the pathogenesis of these invariably benign adenomas, studying the mechanisms underlying pituitary aneuploidy, premature proliferative arrest (senescence), markers of cell proliferation and tumorigenesis in single, double or triply mutant transgenic mice with mutations of Rb, Pttg and/or p21.", "output": {"entities": {"gene": [{"text": "Pttg", "start": 352, "end": 356}], "disease": [{"text": "aneuploidy", "start": 174, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "We devised a new strategy for the AFP TRE to control an artificial E1A-IRES-E1B bicistronic cassette in an adenovirus 5 vector (Ad5) and constructed an HCC-specific oncolytic virus, CV890.", "output": {"entities": {"gene": [{"text": "TRE", "start": 38, "end": 41}], "disease": [{"text": "adenovirus", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Investigating the genetic association between ERAP1 and ankylosing spondylitis.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 46, "end": 51}], "disease": [{"text": "spondylitis", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Convincing evidence indicates that inflammation contributes to the adverse prognosis of subarachnoid hemorrhage (SAH).", "output": {"entities": {"gene": [{"text": "SAH", "start": 113, "end": 116}], "disease": [{"text": "inflammation", "start": 35, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "P53 patches were more prevalent in RTR than in ICP in normal skin adjacent to carcinomas (P = 0. 02), in spite of a lower mean age in the RTR (52 vs 63 years, P = 0. 001), but we found no increase in UV-induced p53 patches in mice that were immunosuppressed by azathioprine.", "output": {"entities": {"gene": [{"text": "RTR", "start": 35, "end": 38}], "disease": [{"text": "carcinomas", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "High glucose and hypoxia independently induced TGF-β (1) production.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 47, "end": 52}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Therefore, it appears that perturbation of cancer-associated endogenous fatty metabolism triggers a \" hypoxia-like \" (oxygen-independent) condition that actively rescues Her-2/neu-dependent MAPK--> HIP-1alpha--> VEGF cascade.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 212, "end": 216}], "disease": [{"text": "hypoxia", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Sorbin and SH3-domain-containing-1 (SORBS1) is an important adaptor protein in insulin-signalling pathway, and its genetic polymorphism may regulate the activity of insulin resistance.", "output": {"entities": {"gene": [{"text": "SORBS1", "start": 36, "end": 42}], "disease": [{"text": "insulin resistance", "start": 165, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Fukuyama-type congenital muscular dystrophy (FCMD, MIM #253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations.", "output": {"entities": {"gene": [{"text": "MIM", "start": 51, "end": 54}], "disease": [{"text": "congenital muscular dystrophy", "start": 14, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The HLA-DRB1 * 1101, DQA1 * 0501, DQB1 * 0301 haplotype was found significantly increased in the patients vs non-atopic controls (15. 4 vs 1. 1%, PC < 0. 01).", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 4, "end": 12}], "disease": [{"text": "atopic", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Importantly, analysis of the gene expression data also identified potential biomarkers for monitoring neurodegeneration (Cox2) and neuronal/synaptic plasticity (Kalrn).", "output": {"entities": {"gene": [{"text": "Cox2", "start": 121, "end": 125}], "disease": [{"text": "neurodegeneration", "start": 102, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The discordance between the low serum lipoprotein levels and the presence of aortic atherosclerosis suggested that intrinsic alterations in macrophage sterol metabolism in the chimeric Npc1-/-mice played a greater role in atherosclerotic lesion formation than did serum lipoprotein levels.", "output": {"entities": {"gene": [{"text": "Npc1", "start": 185, "end": 189}], "disease": [{"text": "atherosclerosis", "start": 84, "end": 99}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Npc1", "start": 185, "end": 189}, "tail": {"text": "atherosclerosis", "start": 84, "end": 99}}]}}, "schema": []}
{"input": "It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of the RET signaling pathway (RET, GDNF and NTN), genes participating in the endothelin (EDN) type B receptor pathway (EDNRB, EDN3 and ECE-1), the SOX10 gene and the SIP1 gene that is mutated in syndromic forms of HSCR.", "output": {"entities": {"gene": [{"text": "EDNRB", "start": 254, "end": 259}], "disease": [{"text": "malformation", "start": 19, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Expression of the key ER stress-associated genes, including glucose-regulated protein 78 (Grp78), protein disulfide isomerase (PDI), and heat shock proteins (HSP25, HSP40, HSP70), were also suppressed by CeO2 nanoparticles.", "output": {"entities": {"gene": [{"text": "Grp78", "start": 90, "end": 95}], "disease": [{"text": "shock", "start": 142, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that a mutation in the homeobox gene, MSX1, causes a common developmental anomaly, familial tooth agenesis.", "output": {"entities": {"gene": [{"text": "MSX1", "start": 53, "end": 57}], "disease": [{"text": "familial tooth agenesis", "start": 98, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSX1", "start": 53, "end": 57}, "tail": {"text": "familial tooth agenesis", "start": 98, "end": 121}}]}}, "schema": []}
{"input": "In a genomic screen for gene copy losses contributing to tumorigenesis in a mouse osteosarcoma model, we identified a somatic homozygous deletion specifically targeting Smpd3.", "output": {"entities": {"gene": [{"text": "Smpd3", "start": 169, "end": 174}], "disease": [{"text": "tumorigenesis", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The role of hypoxia-responsive molecules, especially hypoxia-inducible factor-1 (HIF-1), in glioma tumorigenesis is explored.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 81, "end": 86}], "disease": [{"text": "tumorigenesis", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The trinucleotide repeat sequences which become unstable in fragile X syndrome and myotonic dystrophy are located in the untranslated regions of their respective genes, FMR1 and DM1.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 169, "end": 173}], "disease": [{"text": "myotonic dystrophy", "start": 83, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "MBD3 mediates epigenetic regulation on EPAS1 promoter in cancer.", "output": {"entities": {"gene": [{"text": "MBD3", "start": 0, "end": 4}], "disease": [{"text": "cancer", "start": 57, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Common genetic variants at the NPPA-NPPB locus found to be associated with circulating natriuretic peptide concentrations contribute to interindividual variation in blood pressure and hypertension.", "output": {"entities": {"gene": [{"text": "NPPB", "start": 36, "end": 40}], "disease": [{"text": "hypertension", "start": 184, "end": 196}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NPPB", "start": 36, "end": 40}, "tail": {"text": "hypertension", "start": 184, "end": 196}}]}}, "schema": []}
{"input": "The aberrant promoter methylation of BMP3b and BMP6 in malignant pleural mesotheliomas.", "output": {"entities": {"gene": [{"text": "BMP3b", "start": 37, "end": 42}], "disease": [{"text": "mesotheliomas", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BMP3b", "start": 37, "end": 42}, "tail": {"text": "mesotheliomas", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC.", "output": {"entities": {"gene": [{"text": "ITGB4", "start": 69, "end": 74}], "disease": [{"text": "ACC", "start": 149, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGB4", "start": 69, "end": 74}, "tail": {"text": "ACC", "start": 149, "end": 152}}]}}, "schema": []}
{"input": "An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p. [Gly43Asp; His63Asp] + [Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.", "output": {"entities": {"gene": [{"text": "HFE", "start": 75, "end": 78}], "disease": [{"text": "hemochromatosis", "start": 19, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HFE", "start": 75, "end": 78}, "tail": {"text": "hemochromatosis", "start": 19, "end": 34}}]}}, "schema": []}
{"input": "This study showed that the P. vivax α-tubulin LAMP assay, which can be used to diagnose early infections of vivax malaria, is an alternative molecular diagnostic tool and a point-of-care test that may help to prevent transmission in endemic areas.", "output": {"entities": {"gene": [{"text": "LAMP", "start": 46, "end": 50}], "disease": [{"text": "infections", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Role of Smad1 in diabetic nephropathy: Molecular mechanisms and implications as a diagnostic marker.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 8, "end": 13}], "disease": [{"text": "diabetic nephropathy", "start": 17, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In a CD40-negative model, CD40L expression did not add potency to vaccinia oncolysis.", "output": {"entities": {"gene": [{"text": "CD40", "start": 5, "end": 9}], "disease": [{"text": "oncolysis", "start": 75, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "' pain inhibits pain'--is impaired in chronic pain states and, reciprocally, aberrations of CPM may predict the development of chronic pain.", "output": {"entities": {"gene": [{"text": "CPM", "start": 92, "end": 95}], "disease": [{"text": "chronic pain", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Standard GTG banding chromosomal analysis (from metaphyses of a periferal blood lymphocyte culture) showed 46, XY, der (9) monosomy 9pter--> p22, trisomy 10q26--> qter karyotype.", "output": {"entities": {"gene": [{"text": "p22", "start": 141, "end": 144}], "disease": [{"text": "monosomy", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "PTTG is highly expressed in many cancers and overexpression of PTTG induces aneuploidy in vitro.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 0, "end": 4}], "disease": [{"text": "aneuploidy", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "EW + mate group presented lower body weight (-10%), adipose mass (retroperitoneal:-40% and epididymal:-44%), total body fat (-43%), subcutaneous fat (-46%), visceral adipocyte area (-21%), triglyceridemia (-31%) and hypothalamic NPY content (-37%) compared to EW group.", "output": {"entities": {"gene": [{"text": "NPY", "start": 229, "end": 232}], "disease": [{"text": "body weight", "start": 32, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder.", "output": {"entities": {"gene": [{"text": "KCNH1", "start": 30, "end": 35}], "disease": [{"text": "ZLS", "start": 52, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNH1", "start": 30, "end": 35}, "tail": {"text": "ZLS", "start": 52, "end": 55}}]}}, "schema": []}
{"input": "The Sonic Hedgehog-Gli pathway regulates dorsal brain growth and tumorigenesis.", "output": {"entities": {"gene": [{"text": "Sonic Hedgehog", "start": 4, "end": 18}], "disease": [{"text": "tumorigenesis", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "It has been reported that NTM might play a role in late-onset Alzheimer disease while NR3C2 may be associated with cognitive function and major depression.", "output": {"entities": {"gene": [{"text": "NTM", "start": 26, "end": 29}], "disease": [{"text": "major depression", "start": 138, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NTM", "start": 26, "end": 29}, "tail": {"text": "major depression", "start": 138, "end": 154}}]}}, "schema": []}
{"input": "Apart from improvement in angiogenesis and scar areas, more connexin 43-positive gap junction and greater tyrosine hydroxylase-positive cardiac sympathetic nerves sprouting were observed in the HO-1-ADSCs-treated group compared with ADSCs group.", "output": {"entities": {"gene": [{"text": "connexin 43", "start": 60, "end": 71}], "disease": [{"text": "scar", "start": 43, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "PKD2 regulates hypoxia-induced VEGF-A expression/secretion by tumour cells and VEGF-A stimulated blood vessel formation.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 31, "end": 37}], "disease": [{"text": "hypoxia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "MLH1 and MSH2, the most commonly altered MMR genes, protein expression was evaluated using immunohistochemistry, with microsatellite instability (MSI) and BRAF gene analyses in the absence of MLH1 protein expression.", "output": {"entities": {"gene": [{"text": "MMR", "start": 41, "end": 44}], "disease": [{"text": "microsatellite instability", "start": 118, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, in vivo administration of GM-CSF at 60 microg/kg body weight daily for 5 consecutive days beginning immediately after injury decreased infarction volume, altered the expression of several apoptosis-related genes (Bcl-2, Bax, caspase 3, and p53), and improved locomotor behavior in the focal cerebral ischemia model.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 226, "end": 231}], "disease": [{"text": "body weight", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "These data showed that high-level HE4-V3 expression is associated with a favorable prognosis in lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "HE4", "start": 34, "end": 37}], "disease": [{"text": "lung adenocarcinoma", "start": 96, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Here we present a 16-year-old BVVLS patient belonging to a five generation consanguineous family from Indian ethnicity with two homozygous missense mutations viz., c. 421C & gt; A [p. P141T] in SLC52A2 and c. 62A & gt; G [p. N21S] in SLC52A3.", "output": {"entities": {"gene": [{"text": "SLC52A3", "start": 234, "end": 241}], "disease": [{"text": "BVVLS", "start": 30, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC52A3", "start": 234, "end": 241}, "tail": {"text": "BVVLS", "start": 30, "end": 35}}]}}, "schema": []}
{"input": "RESULTS: More than 50 recurring copy-number abnormalities were identified, most commonly involving genes that encode regulators of B-cell development (in 66. 8% of patients in the original cohort); PAX5 was involved in 31. 7% and IKZF1 in 28. 6% of patients.", "output": {"entities": {"gene": [{"text": "IKZF1", "start": 230, "end": 235}], "disease": [{"text": "abnormalities", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Here we describe an ~ 5 & #8201; kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia.", "output": {"entities": {"gene": [{"text": "GLI3", "start": 70, "end": 74}], "disease": [{"text": "tibial hemimelia", "start": 106, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLI3", "start": 70, "end": 74}, "tail": {"text": "tibial hemimelia", "start": 106, "end": 122}}]}}, "schema": []}
{"input": "This result provides a direct demonstration that Tdp1 repairs Topo I covalent lesions in vivo and suggests that SCAN1 arises from the recessive neomorphic mutation H493R.", "output": {"entities": {"gene": [{"text": "Tdp1", "start": 49, "end": 53}], "disease": [{"text": "SCAN1", "start": 112, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Tdp1", "start": 49, "end": 53}, "tail": {"text": "SCAN1", "start": 112, "end": 117}}]}}, "schema": []}
{"input": "Our results demonstrate altered expressions of the PDE4A and PDE4B proteins in the brains of subjects with autism and might provide new therapeutic avenues for the treatment of this debilitating disorder.", "output": {"entities": {"gene": [{"text": "PDE4A", "start": 51, "end": 56}], "disease": [{"text": "autism", "start": 107, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE4A", "start": 51, "end": 56}, "tail": {"text": "autism", "start": 107, "end": 113}}]}}, "schema": []}
{"input": "As tHcy and FIB have been consistently associated to increased risk of ischemic heart disease (IHD) and acute myocardial infarction (MI) also genes-trait-MI mediational effects were tested.", "output": {"entities": {"gene": [{"text": "FIB", "start": 12, "end": 15}], "disease": [{"text": "myocardial infarction", "start": 110, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "By profiling 108 colorectal samples using exon arrays, we identified nine genes (TCF12, OSBPL1A, TRAK1, ANK3, CHEK1, UGP2, LMO7, ACSL5, and SCIN) showing tumor-specific alternative TSS usage in both adenoma and cancer samples relative to normal mucosa.", "output": {"entities": {"gene": [{"text": "OSBPL1A", "start": 88, "end": 95}], "disease": [{"text": "tumor", "start": 154, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The effect of Semax and its C-end peptide PGP on the morphology and proliferative activity of rat brain cells during experimental ischemia: a pilot study.", "output": {"entities": {"gene": [{"text": "PGP", "start": 42, "end": 45}], "disease": [{"text": "ischemia", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "This loss of Pds1p/securin and Clb2p/cyclin B1 occurred before cellular entry into mitosis, caused a G (2)/M cell cycle block, and was accompanied by severe chromosome aneuploidy in both Saccharomyces cerevisiae cells and human diploid fibroblasts.", "output": {"entities": {"gene": [{"text": "securin", "start": 19, "end": 26}], "disease": [{"text": "aneuploidy", "start": 168, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that RAE1 depletion caused aneuploidy, which enhanced tumorigenesis.", "output": {"entities": {"gene": [{"text": "RAE1", "start": 26, "end": 30}], "disease": [{"text": "aneuploidy", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Treatment of hepatoma cells with policosanol produced a 2. 5-fold or greater increase in the phosphorylation of AMP-kinase and HMG-CoA reductase, and increased the phosphorylation of Ca (+ +)/calmodulin-dependent kinase kinase (CaMKK), an upstream AMP-kinase kinase.", "output": {"entities": {"gene": [{"text": "CaMKK", "start": 228, "end": 233}], "disease": [{"text": "hepatoma", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The frequency and extent of CpG methylation in the MGMT promoter increased along with hepatitis viral infection and pathological progression.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 51, "end": 55}], "disease": [{"text": "viral infection", "start": 96, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "This study was designed to evaluate the association between the Glu298Asp polymorphism of the NOS3 and advanced stage endometriosis.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 94, "end": 98}], "disease": [{"text": "endometriosis", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Initial studies showed that the E3 ubiquitin ligase c-Cbl, a multi-domain scaffold protein, regulates bone resorption by interacting with several molecules in osteoclasts.", "output": {"entities": {"gene": [{"text": "E3 ubiquitin ligase", "start": 32, "end": 51}], "disease": [{"text": "bone resorption", "start": 102, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Western blotting revealed that the IQGAP1 and RhoC proteins were highly expressed in gastric cancer tissues and cells.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 46, "end": 50}], "disease": [{"text": "gastric cancer", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, in the family with Turcot syndrome, in which the first inherited PMS2 mutation (R134X) was described, a further truncating mutation was identified on the other allele, in exon 13.", "output": {"entities": {"gene": [{"text": "PMS2", "start": 78, "end": 82}], "disease": [{"text": "Turcot syndrome", "start": 32, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMS2", "start": 78, "end": 82}, "tail": {"text": "Turcot syndrome", "start": 32, "end": 47}}]}}, "schema": []}
{"input": "Moreover, the methylation status of different CpG sites in CLOCK and PER2 could be used as biomarkers of weight-loss success, particularly CLOCK CPGs 5-6.", "output": {"entities": {"gene": [{"text": "PER2", "start": 69, "end": 73}], "disease": [{"text": "weight", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Molecular characterization of the translocation revealed a mosaic of two derivative chromosomes 1 in her peripheral blood lymphocytes, in one of which the coding region of the platelet-derived growth factor (PDGFB; chromosome 22q13. 1) gene was disrupted.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 208, "end": 213}], "disease": [{"text": "translocation", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Testing infants with idiopathic severe growth retardation and neurodegeneration for NALCN mutations could benefit families.", "output": {"entities": {"gene": [{"text": "NALCN", "start": 84, "end": 89}], "disease": [{"text": "growth retardation", "start": 39, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that the status of amphiregulin and TGF-alpha in serum can be an important predictor of the resistance to gefitinib among patients with advanced NSCLC.", "output": {"entities": {"gene": [{"text": "amphiregulin", "start": 36, "end": 48}], "disease": [{"text": "NSCLC", "start": 162, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "amphiregulin", "start": 36, "end": 48}, "tail": {"text": "NSCLC", "start": 162, "end": 167}}]}}, "schema": []}
{"input": "These findings provide novel insights into mechanisms by which pathophysiological stimuli such as hypoxia cause loss of PPARγ activity and pulmonary vascular cell proliferation, pulmonary vascular remodeling, and PH.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 120, "end": 125}], "disease": [{"text": "hypoxia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In cultured human macrophages, inhibition of ORP150 expression caused retention of VEGF antigen within the endoplasmic reticulum (ER), while overexpression of ORP150 promoted the secretion of VEGF into hypoxic culture supernatants.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 83, "end": 87}], "disease": [{"text": "hypoxic", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "In addition, cultured malignant brain tumor cells (U87, LN18, LN229) transduced with DeltaFasL-RV were rendered apoptotic by Fas/DeltaFasL interaction.", "output": {"entities": {"gene": [{"text": "U87", "start": 51, "end": 54}], "disease": [{"text": "malignant brain tumor", "start": 22, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura.", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 37, "end": 45}], "disease": [{"text": "congenital thrombotic thrombocytopenic purpura", "start": 71, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAMTS13", "start": 37, "end": 45}, "tail": {"text": "congenital thrombotic thrombocytopenic purpura", "start": 71, "end": 117}}]}}, "schema": []}
{"input": "In this study, we cultured a human lung adenocarcinoma line transfected with empty pLKO. 1 vector as a control, CL1-0shControl, and its GR-knockdown derivative, CL1-0shΔGR, to evaluate differential protein level alteration and redox regulation of these two cell lines.", "output": {"entities": {"gene": [{"text": "CL1", "start": 112, "end": 115}], "disease": [{"text": "lung adenocarcinoma", "start": 35, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "LECT2-knockout (KO) mice and NOD/SCID/IL2rgnull (NSG) mice were respectively used to investigate the effects of LECT2 on the tumorigenicity and metastasis of murine (Lewis lung carcinoma, LLC) and human (HCC827) lung cancer cells.", "output": {"entities": {"gene": [{"text": "LECT2", "start": 0, "end": 5}], "disease": [{"text": "Lewis lung carcinoma", "start": 166, "end": 186}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "LECT2", "start": 0, "end": 5}, "tail": {"text": "Lewis lung carcinoma", "start": 166, "end": 186}}]}}, "schema": []}
{"input": "rLTL of older men exhibited a statistically significant, positive partial correlation with mean corpuscular hemoglobin (MCH; p = 0. 012) and MCH concentration (p = 0. 002).", "output": {"entities": {"gene": [{"text": "MCH", "start": 120, "end": 123}], "disease": [{"text": "mean corpuscular hemoglobin", "start": 91, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the approach to the diagnosis of Lynch syndrome is becoming more complex as more is learned about the disease, and one needs to understand how the DNA MMR proteins function, and what makes them malfunction, to have an optimal appreciation of how to interpret diagnostic studies such as microsatellite instability and immunohistochemistry of the DNA MMR proteins.", "output": {"entities": {"gene": [{"text": "MMR", "start": 161, "end": 164}], "disease": [{"text": "microsatellite instability", "start": 296, "end": 322}]}, "relations": {}}, "schema": []}
{"input": "The observation that increased duration and generalized disease was associated with increased peripheral blood mononuclear cell responses to peptides encoded by BPAG1 supports the hypothesis that responses to BPAG1 may occur as a consequence of ongoing inflammation at the basement membrane.", "output": {"entities": {"gene": [{"text": "BPAG1", "start": 161, "end": 166}], "disease": [{"text": "inflammation", "start": 253, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Interferon gamma-mediated renal MHC expression in mercuric chloride-induced glomerulonephritis.", "output": {"entities": {"gene": [{"text": "Interferon gamma", "start": 0, "end": 16}], "disease": [{"text": "glomerulonephritis", "start": 76, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Interferon gamma", "start": 0, "end": 16}, "tail": {"text": "glomerulonephritis", "start": 76, "end": 94}}]}}, "schema": []}
{"input": "Reduced tumor volume and metastasis are not due to defects in tumor angiogenesis, as there is no significant difference in tumor vessel density between wild-type tumors and tumors expressing EphA2-signaling-defective mutants.", "output": {"entities": {"gene": [{"text": "EphA2", "start": 191, "end": 196}], "disease": [{"text": "tumor angiogenesis", "start": 62, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "This activates the kinase which phosphorylates the GluR1 subunit of AMPA receptors in Ser831 and induces its translocation to the post-synaptic densities.", "output": {"entities": {"gene": [{"text": "GluR1", "start": 51, "end": 56}], "disease": [{"text": "translocation", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Autoimmune thyroiditis, with TPO-Abs as marker, is a possible endophenotype for bipolar disorder.", "output": {"entities": {"gene": [{"text": "TPO", "start": 29, "end": 32}], "disease": [{"text": "bipolar disorder", "start": 80, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TPO", "start": 29, "end": 32}, "tail": {"text": "bipolar disorder", "start": 80, "end": 96}}]}}, "schema": []}
{"input": "Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 30, "end": 35}], "disease": [{"text": "autosomal dominant brachyolmia", "start": 42, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPV4", "start": 30, "end": 35}, "tail": {"text": "autosomal dominant brachyolmia", "start": 42, "end": 72}}]}}, "schema": []}
{"input": "Although subretinal (SR) AAV vector administration can transfect retinal cells efficiently, the injection-induced retinal detachment can cause retinal damage, particularly when SR vector bleb includes the fovea.", "output": {"entities": {"gene": [{"text": "AAV", "start": 25, "end": 28}], "disease": [{"text": "retinal damage", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In this study, we extensively investigated the impact of sex and smoking on the EGFR mutation.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 80, "end": 84}], "disease": [{"text": "smoking", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "ADAR1 expression levels and the RNA editing levels in the 3'-UTR of DHFR in breast cancer tissues were higher than those in adjacent normal tissues.", "output": {"entities": {"gene": [{"text": "ADAR1", "start": 0, "end": 5}], "disease": [{"text": "breast cancer", "start": 76, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADAR1", "start": 0, "end": 5}, "tail": {"text": "breast cancer", "start": 76, "end": 89}}]}}, "schema": []}
{"input": "Ten human cancer cell lines, showing growth characterized morphologically by loose cell-cell adhesion, were analyzed for possible structural abnormalities of their expressed E-cadherin.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 174, "end": 184}], "disease": [{"text": "abnormalities", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "To investigate the expression and prognostic value of bone sialoprotein (BSP) in glioma patients.", "output": {"entities": {"gene": [{"text": "BSP", "start": 73, "end": 76}], "disease": [{"text": "glioma", "start": 81, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In human glioma cell lines BT325, U251, SHG-44, and U87, mRNA encoding different types of Notch receptors were detected, but active form of Notch1 (NIC) was only detected in SHG-44 and U87 by Western blot.", "output": {"entities": {"gene": [{"text": "U87", "start": 52, "end": 55}], "disease": [{"text": "glioma", "start": 9, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "We found that Ndrg2 promoter was frequently hypermethylated in gastric cancer cell lines and in 292 gastric tumor tissues.", "output": {"entities": {"gene": [{"text": "Ndrg2", "start": 14, "end": 19}], "disease": [{"text": "gastric tumor", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "By multivariate analysis, four factors were identified as independent predictors of intracranial haemorrhage; age over 65 years (odds ratio 2. 2 [95% Cl 1. 4-3. 5]), body weight below 70 kg (2. 1 [1. 3-3. 2]), hypertension on hospital admission (2. 0 [1. 2-3. 2]), and administration of alteplase (1. 6 [1. 0-2. 5]).", "output": {"entities": {"gene": [{"text": "alteplase", "start": 287, "end": 296}], "disease": [{"text": "intracranial haemorrhage", "start": 84, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alteplase", "start": 287, "end": 296}, "tail": {"text": "intracranial haemorrhage", "start": 84, "end": 108}}]}}, "schema": []}
{"input": "We authors believe that this is the first documented case of ACTH-producing Grawitz tumor in the literature.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 61, "end": 65}], "disease": [{"text": "Grawitz tumor", "start": 76, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 61, "end": 65}, "tail": {"text": "Grawitz tumor", "start": 76, "end": 89}}]}}, "schema": []}
{"input": "This study supports the hypothesis that resveratrol may be able to protect the retina against ischemia by downregulation of MMP-9 and iNOS, and upregulation of HO-1.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 124, "end": 129}], "disease": [{"text": "retina", "start": 79, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 124, "end": 129}, "tail": {"text": "retina", "start": 79, "end": 85}}]}}, "schema": []}
{"input": "Primary human cardiomyocytes with overexpression of wild type IRS-1 or Arg972 IRS-1 or knockdown of endogenous IRS-1 were exposed to normoxia and hypoxia, and the expression levels of ACE2 were determined.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 184, "end": 188}], "disease": [{"text": "hypoxia", "start": 146, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The embryonic programme' epithelial-mesenchymal transition' (EMT) is thought to promote malignant tumour progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 61, "end": 64}], "disease": [{"text": "tumour progression", "start": 98, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The inverse expression levels of HIF-1alpha and VEGF-A were significantly superior in predicting clinical outcome as compared with proteinuria, renal function, and degree of tubular atrophy and interstitial fibrosis at the time of biopsy.", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 33, "end": 43}], "disease": [{"text": "proteinuria", "start": 131, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "This study examined the apparently close correlation between AGE-RAGE and the malignancy of SAS oral cancer cell line.", "output": {"entities": {"gene": [{"text": "SAS", "start": 92, "end": 95}], "disease": [{"text": "oral cancer", "start": 96, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "This indicates that those multiple abnormal WS phenotypes are derived from a primary, but not secondary, defect in the WRN gene.", "output": {"entities": {"gene": [{"text": "WRN gene", "start": 119, "end": 127}], "disease": [{"text": "secondary", "start": 94, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Our data raise the possibility that TRPV4 may also have a role in age-or injury-related osteoarthritis.", "output": {"entities": {"gene": [{"text": "TRPV4", "start": 36, "end": 41}], "disease": [{"text": "osteoarthritis", "start": 88, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPV4", "start": 36, "end": 41}, "tail": {"text": "osteoarthritis", "start": 88, "end": 102}}]}}, "schema": []}
{"input": "Clinical delineation and localization to chromosome 9p13. 3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.", "output": {"entities": {"gene": [{"text": "p12", "start": 60, "end": 63}], "disease": [{"text": "frontotemporal dementia", "start": 175, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Ghsr ablation improves aging-associated obesity and insulin resistance by reducing adiposity and increasing thermogenesis.", "output": {"entities": {"gene": [{"text": "Ghsr", "start": 0, "end": 4}], "disease": [{"text": "insulin resistance", "start": 52, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "It has recently been shown that the WNK [with-no-K (Lys)] kinases (WNK1, WNK2, WNK3 and WNK4) have vital roles in the control of salt homeostasis and blood pressure.", "output": {"entities": {"gene": [{"text": "WNK3", "start": 79, "end": 83}], "disease": [{"text": "blood pressure", "start": 150, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "BCL6-mediated expression may allow GCB-cells to sustain the low levels of physiological DNA breaks related to somatic mutation (SM) and immunoglobulin class switch recombination which physiologically occur in GCB-cells.", "output": {"entities": {"gene": [{"text": "BCL6", "start": 0, "end": 4}], "disease": [{"text": "somatic mutation", "start": 110, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "This was also mirrored in human genetic studies where polymorphisms in Tim1 and Tim3 have been associated with atopic populations.", "output": {"entities": {"gene": [{"text": "Tim1", "start": 71, "end": 75}], "disease": [{"text": "atopic", "start": 111, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The extranucleotide, commonly appearing at the joining site of the t (14; 18) translocation involving the IgH locus, is absent from the joining site of bcl-2 and Ig lambda.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 152, "end": 157}], "disease": [{"text": "translocation", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Bone morphogenetic proteins induce pancreatic cancer cell invasiveness through a Smad1-dependent mechanism that involves matrix metalloproteinase-2.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 81, "end": 86}], "disease": [{"text": "pancreatic cancer", "start": 35, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations.", "output": {"entities": {"gene": [{"text": "NOG", "start": 75, "end": 78}], "disease": [{"text": "multiple synostosis syndrome", "start": 23, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOG", "start": 75, "end": 78}, "tail": {"text": "multiple synostosis syndrome", "start": 23, "end": 51}}]}}, "schema": []}
{"input": "Finally, CRH, PLAC1, and selectin-P were plotted against quantitative distributions of blood pressure and proteinuria.", "output": {"entities": {"gene": [{"text": "CRH", "start": 9, "end": 12}], "disease": [{"text": "proteinuria", "start": 106, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In previous studies, murine myeloid leukemias induced by transducing wild-type bone marrow progenitors with a SRY sex determining region Y-box 4 (Sox4)-expressing retrovirus frequently carried proviral insertions at Sfpi1, decreasing its mRNA levels, suggesting that reduced Sfpi1 expression cooperates with Sox4 in myeloid leukemia induction.", "output": {"entities": {"gene": [{"text": "sex determining region Y", "start": 114, "end": 138}], "disease": [{"text": "myeloid leukemia", "start": 28, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Endoplasmic reticulum aminopeptidase 1 and interleukin-23 receptor in ankylosing spondylitis.", "output": {"entities": {"gene": [{"text": "Endoplasmic reticulum aminopeptidase 1", "start": 0, "end": 38}], "disease": [{"text": "spondylitis", "start": 81, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.", "output": {"entities": {"gene": [{"text": "neurobeachin", "start": 4, "end": 16}], "disease": [{"text": "autism", "start": 83, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neurobeachin", "start": 4, "end": 16}, "tail": {"text": "autism", "start": 83, "end": 89}}]}}, "schema": []}
{"input": "Many of the cases in this DLBCL/BL category contain a translocation of MYC as well as BCL2, so-called \" double-hit lymphomas \" which have a very aggressive clinical behavior.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 86, "end": 90}], "disease": [{"text": "translocation", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "These results show that the normal expression of CD-RAP/MIA is limited to cartilage; however, pathologically, it is expressed both in melanoma and chondrosarcoma.", "output": {"entities": {"gene": [{"text": "MIA", "start": 56, "end": 59}], "disease": [{"text": "chondrosarcoma", "start": 147, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "All patients diagnosed as having Norrie disease had mutations in the NDP gene.", "output": {"entities": {"gene": [{"text": "NDP", "start": 69, "end": 72}], "disease": [{"text": "Norrie disease", "start": 33, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDP", "start": 69, "end": 72}, "tail": {"text": "Norrie disease", "start": 33, "end": 47}}]}}, "schema": []}
{"input": "These findings are placed in the broader context of how p27 dysregulation might affect neuroendocrine cell function and trigger tumorigenesis.", "output": {"entities": {"gene": [{"text": "p27", "start": 56, "end": 59}], "disease": [{"text": "tumorigenesis", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Acute respiratory failure (ARF) and severe sepsis (SS) are possible complications in patients with community-acquired pneumonia (CAP).", "output": {"entities": {"gene": [{"text": "ARF", "start": 27, "end": 30}], "disease": [{"text": "sepsis", "start": 43, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "SLP-2 overexpression was an independent prognostic factor in multivariate analysis using the Cox regression model (p < 0. 05).", "output": {"entities": {"gene": [{"text": "SLP-2", "start": 0, "end": 5}], "disease": [{"text": "regression", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "In addition, miR-145 inhibition also significantly decreased myofibroblast contractility, migratory capacity, and TGF-β1 secretion, which are all thought to contribute to corneal scarring.", "output": {"entities": {"gene": [{"text": "miR-145", "start": 13, "end": 20}], "disease": [{"text": "corneal scarring", "start": 171, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results demonstrate that PGG inhibits hypoxia-mediated accumulation of HIF-1α as well as its downstream signaling to VEGF and PI3K/AKT/mTOR pathway in LNCaP prostate cancer cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 137, "end": 141}], "disease": [{"text": "hypoxia", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Stable RNA interference-mediated knockdown of MALAT1 in human glioma cell lines (U87 and U251) significantly promoted the invasion and proliferation of the glioma cells by in vitro assays.", "output": {"entities": {"gene": [{"text": "U87", "start": 81, "end": 84}], "disease": [{"text": "glioma", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Although CRP SNPs alone were not associated with endometrial cancer, the associations of endometrial cancer with central obesity, measured as the waist-to-hip ratio (WHR) and the waist circumference, seemed to be stronger in women who were homozygous for the major allele of reference SNP (rs) 1130864 (cytidine [C]/C) than in women who had the C/thymidine (T) and T/T genotypes (interaction test: P =. 013 for WHR; P =. 083 for waist circumference).", "output": {"entities": {"gene": [{"text": "CRP", "start": 9, "end": 12}], "disease": [{"text": "waist-to-hip ratio", "start": 146, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Additionally, IL-6 plasma levels were significantly increased in patients with chronic liver diseases and showed an inverse correlation with biochemical markers of liver function and a positive correlation with inflammatory markers, signs of portal hypertension, and the degree of liver fibrosis.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 14, "end": 18}], "disease": [{"text": "liver fibrosis", "start": 281, "end": 295}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 14, "end": 18}, "tail": {"text": "liver fibrosis", "start": 281, "end": 295}}]}}, "schema": []}
{"input": "The present study aimed to examine the anti-metastatic properties of Selaginella tamariscina extract (STE) in human nasopharyngeal carcinoma HONE-1 cells in vitro.", "output": {"entities": {"gene": [{"text": "STE", "start": 102, "end": 105}], "disease": [{"text": "nasopharyngeal carcinoma", "start": 116, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Since all of these functions are of potential importance in the induction or maintenance or both of autoimmune disease, samples from the Arthritis and Rheumatism Council' s repository of multicase rheumatoid arthritis families were typed for a dinucleotide repeat in the NRAMP1 promoter region and four other 2q34 (TNP1) or 2q35 (IL8R, VIL1, DES) marker genes.", "output": {"entities": {"gene": [{"text": "VIL1", "start": 336, "end": 340}], "disease": [{"text": "autoimmune disease", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The t (16; 21) (p11; q22) translocation is a nonrandom chromosomal abnormality found in several types of myeloid leukemia, which show variable cytomorphological features.", "output": {"entities": {"gene": [{"text": "p11", "start": 16, "end": 19}], "disease": [{"text": "chromosomal abnormality", "start": 55, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Angiopoietin-1 therapy enhances fibrosis and inflammation following folic acid-induced acute renal injury.", "output": {"entities": {"gene": [{"text": "Angiopoietin-1", "start": 0, "end": 14}], "disease": [{"text": "inflammation", "start": 45, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angiopoietin-1", "start": 0, "end": 14}, "tail": {"text": "inflammation", "start": 45, "end": 57}}]}}, "schema": []}
{"input": "concentration, polymorphisms of genes encoding for the vitamin D receptor (VDR) and vitamin D-binding protein (also known as gc-globulin or group-specific component, GC), and breast cancer risk, along with 2 potential modifiers: body mass index (BMI; in kg/m (2)) and alcohol intake.", "output": {"entities": {"gene": [{"text": "VDR", "start": 75, "end": 78}], "disease": [{"text": "alcohol intake", "start": 268, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Alms1-/-mice develop features similar to patients with AS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction and late-onset hearing loss.", "output": {"entities": {"gene": [{"text": "Alms1", "start": 0, "end": 5}], "disease": [{"text": "hypogonadism", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Thus, we conclude that the reduction of mGluR LTD after pilocarpine-induced status epilepticus is the result of the subtype-specific downregulation of mGluR5 and associated downstream signaling components.", "output": {"entities": {"gene": [{"text": "mGluR5", "start": 151, "end": 157}], "disease": [{"text": "status epilepticus", "start": 76, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR5", "start": 151, "end": 157}, "tail": {"text": "status epilepticus", "start": 76, "end": 94}}]}}, "schema": []}
{"input": "The pathomechanism of familial hypokalemic periodic paralysis (HypoPP) is a mystery, despite knowledge of the underlying dominant point mutations in the dihydropyridine receptor (DHPR) voltage sensor.", "output": {"entities": {"gene": [{"text": "DHPR", "start": 179, "end": 183}], "disease": [{"text": "familial hypokalemic periodic paralysis", "start": 22, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We have previously described the development of a soluble membrane-independent form of CD59 (sCD59) that when delivered via a gene therapy approach using an adeno-associated virus vector (AAV2/8-sCD59) to the eyes of mice, can block MAC deposition and choroidal neovascularization.", "output": {"entities": {"gene": [{"text": "CD59", "start": 87, "end": 91}], "disease": [{"text": "choroidal neovascularization", "start": 252, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "We used a diet-induced rat model of nonalcoholic fatty liver disease (NAFLD) and hepatic insulin resistance to explore the impact of suppressing Acc1, Acc2, or both Acc1 and Acc2 on hepatic lipid levels and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "Acc2", "start": 151, "end": 155}], "disease": [{"text": "insulin sensitivity", "start": 207, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Presence of high hepcidin suggested a diagnosis of IRIDA, which was eventually confirmed by identification of a novel homozygous mutation, p. Pro354Leu, in the TMPRSS6 gene.", "output": {"entities": {"gene": [{"text": "TMPRSS6", "start": 160, "end": 167}], "disease": [{"text": "IRIDA", "start": 51, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMPRSS6", "start": 160, "end": 167}, "tail": {"text": "IRIDA", "start": 51, "end": 56}}]}}, "schema": []}
{"input": "Furthermore, no NKX2. 5 mutation was identified in 125 sporadic Chinese CHD patients.", "output": {"entities": {"gene": [{"text": "NKX2. 5", "start": 16, "end": 23}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In the unilateral ureteral obstruction model, we observed higher PGC-1 & #945; protein expression and IHG-1 levels with fibrosis.", "output": {"entities": {"gene": [{"text": "IHG-1", "start": 102, "end": 107}], "disease": [{"text": "fibrosis", "start": 120, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IHG-1", "start": 102, "end": 107}, "tail": {"text": "fibrosis", "start": 120, "end": 128}}]}}, "schema": []}
{"input": "Treatment with the anticancer drug taxol (TXL), which polymerizes the cytoskeleton protein tubulin, may evoke cardiac arrhythmias based on reduced human cardiac sodium channel (Na (v) 1. 5) function.", "output": {"entities": {"gene": [{"text": "TXL", "start": 42, "end": 45}], "disease": [{"text": "cardiac arrhythmias", "start": 110, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "These patients showed stronger and earlier remission of hematuria and proteinuria than those with low TLR9 expression.", "output": {"entities": {"gene": [{"text": "TLR9", "start": 102, "end": 106}], "disease": [{"text": "proteinuria", "start": 70, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Surgical specimens and tumor cells in primary culture of salivary pleomorphic adenomas were used for immunohistochemistry for CD31, vascular endothelial growth factor (VEGF) and its receptors Flk-1 and Flt-1, as well as for hypoxia markers, such as hypoxia-inducible factor-1alpha (HIF-1alpha) and lactate dehydrogenase-1 (LDH).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 168, "end": 172}], "disease": [{"text": "hypoxia", "start": 224, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "We conclude that smoking and inherited ALDH2 1-1 are the most important determinants of alcohol consumption.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 39, "end": 44}], "disease": [{"text": "smoking", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Thus, we tested the hypothesis that decreased activation of the pulmonary AhR augments hyperoxia-induced alveolar simplification and lung inflammation in newborn mice.", "output": {"entities": {"gene": [{"text": "AhR", "start": 74, "end": 77}], "disease": [{"text": "lung inflammation", "start": 133, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AhR", "start": 74, "end": 77}, "tail": {"text": "lung inflammation", "start": 133, "end": 150}}]}}, "schema": []}
{"input": "However, because performing accurate cytogenetic studies in solid hematolymphoid neoplasms is difficult, knowledge of the prevalence of the t (14; 18) translocation and, by association, the extent of bcl-2 involvement in human lymphomas is limited.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 200, "end": 205}], "disease": [{"text": "translocation", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, results presented here show that cannabinoids lead to apoptosis of pancreatic tumor cells via a CB (2) receptor and de novo synthesized ceramide-dependent up-regulation of p8 and the endoplasmic reticulum stress-related genes ATF-4 and TRB3.", "output": {"entities": {"gene": [{"text": "CB (2", "start": 111, "end": 116}], "disease": [{"text": "pancreatic tumor", "start": 82, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB (2", "start": 111, "end": 116}, "tail": {"text": "pancreatic tumor", "start": 82, "end": 98}}]}}, "schema": []}
{"input": "WWOX, a gene that spans the second most common chromosomal fragile site (FRA16D), often exhibits homozygous deletions and translocation breakpoints under multiple cellular stresses induced by extrinsic or intrinsic factors, such as hypoxia, UV, and DNA damage regents.", "output": {"entities": {"gene": [{"text": "WWOX", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Significant risk estimates of the CARD15 genotype were obtained for stricturing vs inflammatory behaviour, OR 2. 76 (1. 2-6. 3), and for penetrating behaviour, 2. 59 (1. 0-6. 6), and marginally significant for ileal vs colic location, OR 3. 0 (0. 9-9. 8).", "output": {"entities": {"gene": [{"text": "CARD15", "start": 34, "end": 40}], "disease": [{"text": "colic", "start": 219, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "We report that the injection of adeno-associated vector (AAV) encoding CYP46A1 in the cortex and hippocampus of APP23 mice before the onset of amyloid deposits markedly reduces Abeta peptides, amyloid deposits and trimeric oligomers at 12 months of age.", "output": {"entities": {"gene": [{"text": "AAV", "start": 57, "end": 60}], "disease": [{"text": "amyloid deposits", "start": 143, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We examined whether a functional variant of the ADRA1A gene (Cys to Arg at codon 347 in exon 2, Cys347Arg) may enhance treatment response through decreased stimulation of this & #945; 1A-adrenoceptor, since antagonists of this receptor show promise in reducing cocaine use.", "output": {"entities": {"gene": [{"text": "ADRA1A", "start": 48, "end": 54}], "disease": [{"text": "cocaine use", "start": 261, "end": 272}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADRA1A", "start": 48, "end": 54}, "tail": {"text": "cocaine use", "start": 261, "end": 272}}]}}, "schema": []}
{"input": "We recently reported that the pathogenesis of pemphigus vulgaris (PV), an autoimmune blistering skin disorder, is driven by the accumulation of c-Myc secondary to abrogation of plakoglobin (PG)-mediated transcriptional c-Myc suppression.", "output": {"entities": {"gene": [{"text": "plakoglobin", "start": 177, "end": 188}], "disease": [{"text": "pemphigus vulgaris", "start": 46, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "A small interference RNA (siRNA) targeting EPO or control negative siRNA was injected intravitreally at postnatal (P) day 12, P14, and P15 during the hypoxic phase, and the effect on neovascularization was evaluated in retinal flatmounts at P17.", "output": {"entities": {"gene": [{"text": "P14", "start": 126, "end": 129}], "disease": [{"text": "neovascularization", "start": 183, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "LIFR silencing and Mcl-1 blockade restored drug-induced apoptosis. In conclusion, autocrine and paracrine LIF signaling promote chemoresistance in cholangiocarcinoma by up-regulating Mcl-1 via a novel STAT3-and MAPK-independent, PI3K/AKT-dependent pathway.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 0, "end": 4}], "disease": [{"text": "cholangiocarcinoma", "start": 147, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "In addition, although these tumors are recommended for either immunohistochemistry for DNA mismatch repair (MMR) proteins or a microsatellite instability test in the Bethesda guidelines as Lynch syndrome-associated cancers, few studies have completed these analyses.", "output": {"entities": {"gene": [{"text": "MMR", "start": 108, "end": 111}], "disease": [{"text": "microsatellite instability", "start": 127, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "A prospective study on patients suspected to have Alexander disease was conducted to determine the extent to which clinical and MRI criteria could accurately diagnose affected individuals, using GFAP gene sequencing as the confirmatory assay.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 195, "end": 199}], "disease": [{"text": "Alexander disease", "start": 50, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFAP", "start": 195, "end": 199}, "tail": {"text": "Alexander disease", "start": 50, "end": 67}}]}}, "schema": []}
{"input": "Understanding the relationship between hPNPase (old-35) and inflammation and aging provides a unique opportunity to mechanistically comprehend and potentially intervene in these physiologically important processes.", "output": {"entities": {"gene": [{"text": "old-35", "start": 48, "end": 54}], "disease": [{"text": "inflammation", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Ercc6l expression in 15. 5-day embryonic brain and heart, which are the most commonly affected organs of FAS, were both decreased by alcohol exposure.", "output": {"entities": {"gene": [{"text": "Ercc6l", "start": 0, "end": 6}], "disease": [{"text": "FAS", "start": 105, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ercc6l", "start": 0, "end": 6}, "tail": {"text": "FAS", "start": 105, "end": 108}}]}}, "schema": []}
{"input": "Involvement of peroxisome proliferator-activated receptor gamma in vitamin D-mediated protection against acute kidney injury in rats.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor gamma", "start": 15, "end": 63}], "disease": [{"text": "acute kidney injury", "start": 105, "end": 124}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "peroxisome proliferator-activated receptor gamma", "start": 15, "end": 63}, "tail": {"text": "acute kidney injury", "start": 105, "end": 124}}]}}, "schema": []}
{"input": "We examined p16, p21 and p53 expression in combination with the presence of human papillomavirus (HPV) DNA as molecular markers to predict survival in patients with stage IV hypopharyngeal squamous cell carcinoma (HSCC).", "output": {"entities": {"gene": [{"text": "p21", "start": 17, "end": 20}], "disease": [{"text": "hypopharyngeal squamous cell carcinoma", "start": 174, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "The 1. 87 (p = 0. 021) increased relative risk for microalbuminuria was found in patients with DR3/DR3 alleles and the same duration of diabetes.", "output": {"entities": {"gene": [{"text": "DR3", "start": 95, "end": 98}], "disease": [{"text": "microalbuminuria", "start": 51, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "UCP3 genotype and allele distribution was significantly associated with ethnicity and waist-to-hip ratio (WHR), but among non-obese and Chinese participants only, respectively, after stratified analysis.", "output": {"entities": {"gene": [{"text": "UCP3", "start": 0, "end": 4}], "disease": [{"text": "waist-to-hip ratio", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In total, we identified 4 BBS2 missense mutations that cause nonsyndromic retinitis pigmentosa.", "output": {"entities": {"gene": [{"text": "BBS2", "start": 26, "end": 30}], "disease": [{"text": "retinitis pigmentosa", "start": 74, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BBS2", "start": 26, "end": 30}, "tail": {"text": "retinitis pigmentosa", "start": 74, "end": 94}}]}}, "schema": []}
{"input": "In tongue cancer, downregulation of C-myc mRNA associated with advancement of the disease and worse prognosis.", "output": {"entities": {"gene": [{"text": "C-myc", "start": 36, "end": 41}], "disease": [{"text": "tongue cancer", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Many of the atrophic epithelial luminal cells in PIA are candidates for intermediate cells based in part on weak expression of PSA and androgen receptor, high levels of K8/18, and lack of p63.", "output": {"entities": {"gene": [{"text": "PSA", "start": 127, "end": 130}], "disease": [{"text": "atrophic", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of NDRG1 was shown to inhibit cell proliferation and invasion, and induce apoptosis in the U87 MG glioma cells, whereas NDRG1 downregulation increased proliferation, suppressed apoptosis and promoted invasion of the SHG‑44 glioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 106, "end": 109}], "disease": [{"text": "glioma", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We conducted a multicenter study of families with mood disorders, to investigate a possible linkage with genes coding for dopamine receptor D2, dopamine receptor D3 and tyrosine hydroxylase (TH).", "output": {"entities": {"gene": [{"text": "dopamine receptor D3", "start": 144, "end": 164}], "disease": [{"text": "mood disorders", "start": 50, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dopamine receptor D3", "start": 144, "end": 164}, "tail": {"text": "mood disorders", "start": 50, "end": 64}}]}}, "schema": []}
{"input": "Active Id2 prevents differentiation and promotes cell-cycle progression and tumorigenesis in the nervous system.", "output": {"entities": {"gene": [{"text": "Id2", "start": 7, "end": 10}], "disease": [{"text": "nervous system", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "These results are consistent with basic science data, suggesting that COL6A3 might contribute to adipose tissue inflammation.", "output": {"entities": {"gene": [{"text": "COL6A3", "start": 70, "end": 76}], "disease": [{"text": "inflammation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The most frequent translocation t (8; 21) in acute myeloid leukemia (AML) generates the chimeric AML1/ETO protein, which blocks differentiation and induces self-renewal in hematopoietic progenitor cells.", "output": {"entities": {"gene": [{"text": "AML1", "start": 97, "end": 101}], "disease": [{"text": "translocation", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "We conclude that IL-20 was responsive to hypoxia in vitro and in the ischemic stroke model and that up-regulation of IL-20 in the ischemic brain may contribute to brain injury.", "output": {"entities": {"gene": [{"text": "IL-20", "start": 17, "end": 22}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The purpose of the present study was to investigate the association of HLA class II DRB1/DQB1 alleles with narcolepsy-cataplexy in Mexican Mestizo patients.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 84, "end": 88}], "disease": [{"text": "narcolepsy-cataplexy", "start": 107, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DRB1", "start": 84, "end": 88}, "tail": {"text": "narcolepsy-cataplexy", "start": 107, "end": 127}}]}}, "schema": []}
{"input": "The current study addresses the hypothesis that pharmacological inhibition of PARP promotes atherosclerotic plaque regression.", "output": {"entities": {"gene": [{"text": "PARP", "start": 78, "end": 82}], "disease": [{"text": "regression", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Among cases, FLG mutations increased mortality due to cervical cancer (HR 4. 55, 95% CI 1. 70-12. 2), however, the association was reduced after stratification by cancer stage (HR 2. 53, 95% CI 0. 84-7. 59).", "output": {"entities": {"gene": [{"text": "FLG", "start": 13, "end": 16}], "disease": [{"text": "cervical cancer", "start": 54, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Expression levels of macrophage genes (CD68, CD11b, CD206, CD16, CD40, and CD163) were lower in skeletal muscle tissue of obese versus lean participants.", "output": {"entities": {"gene": [{"text": "CD206", "start": 52, "end": 57}], "disease": [{"text": "obese", "start": 122, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD206", "start": 52, "end": 57}, "tail": {"text": "obese", "start": 122, "end": 127}}]}}, "schema": []}
{"input": "Finally, an anti-E-selectin antibody protected rats against SAO shock.", "output": {"entities": {"gene": [{"text": "E-selectin", "start": 17, "end": 27}], "disease": [{"text": "shock", "start": 64, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "However, a significant association of GSTP1 I105V genotype with severe malarial anemia was discovered (26. 0% against 10. 3% mild malaria, P = 0. 004).", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 38, "end": 43}], "disease": [{"text": "mild", "start": 125, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.", "output": {"entities": {"gene": [{"text": "KCNJ13", "start": 13, "end": 19}], "disease": [{"text": "snowflake vitreoretinal degeneration", "start": 45, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ13", "start": 13, "end": 19}, "tail": {"text": "snowflake vitreoretinal degeneration", "start": 45, "end": 81}}]}}, "schema": []}
{"input": "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.", "output": {"entities": {"gene": [{"text": "SLC20A2", "start": 13, "end": 20}], "disease": [{"text": "familial idiopathic basal ganglia calcification", "start": 26, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC20A2", "start": 13, "end": 20}, "tail": {"text": "familial idiopathic basal ganglia calcification", "start": 26, "end": 73}}]}}, "schema": []}
{"input": "SDF1/CXCL12 and RANKL expression was mainly localized to the alveolar crest, including inflammatory leukocytes, vascular endothelium, osteoblasts and osteoclasts.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 16, "end": 21}], "disease": [{"text": "crest", "start": 70, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Rare EGFR mutations were significantly associated with smoking (vs. classic EGFR mutations; p = 0. 0062).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 5, "end": 9}], "disease": [{"text": "smoking", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "INTRODUCTION: Liver kinase 1 (LKB1) plays a critical barrier role in lung tumorigenesis by controlling initiation, differentiation and metastasis.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 30, "end": 34}], "disease": [{"text": "tumorigenesis", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Approximately 5% of transgenic mice overexpressing S100A4/Mts1 develop pulmonary arterial changes resembling human plexogenic arteriopathy with intimal hyperplasia leading to occlusion of the arterial lumen.", "output": {"entities": {"gene": [{"text": "S100A4", "start": 51, "end": 57}], "disease": [{"text": "intimal hyperplasia", "start": 144, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the results of this case-control study for sporadic cases of CRC show that GSTM1 deletion polymorphisms can have predictive value for susceptibility to CRC (OR = 2. 01, p = 0. 0001) for the mixed population from Kazakhstan and for both main ethnic groups (Kazakhs and Russians (OR = 2. 36 and OR = 1. 84, respectively)).", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 90, "end": 95}], "disease": [{"text": "sporadic", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In summary, this is the first report demonstrating a pivotal role of MUC1 in controlling the hypoxia-driven angiogenesis through the regulation of multiple proangiogenic factors in pancreatic cancer.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 69, "end": 73}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In a Polish population consisting of 506 familial/early onset BC cases, no association with event-free survival for the ALCAM SNPs nor any association with tumor characteristics for the CCL18 SNP were observed, suggesting either a chance finding in the Swedish population or population-based or etiological differences between sporadic and familial/early onset BC.", "output": {"entities": {"gene": [{"text": "CCL18", "start": 186, "end": 191}], "disease": [{"text": "sporadic", "start": 327, "end": 335}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that overexpression or knockdown of PDCD5 had no significant effect on the proliferation of glioma cell lines (U87, U251, and T98G) in the absence of chemotherapeutic agents.", "output": {"entities": {"gene": [{"text": "U87", "start": 127, "end": 130}], "disease": [{"text": "glioma", "start": 108, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Decreased expression of small-conductance Ca2 +-activated K + channels SK1 and SK2 in human chronic atrial fibrillation.", "output": {"entities": {"gene": [{"text": "SK2", "start": 79, "end": 82}], "disease": [{"text": "chronic atrial fibrillation", "start": 92, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We investigated the possible relationship between VHL mutations in sporadic CCRCC and polymorphism of genes encoding enzymes involved in carcinogen metabolism: two cytochrome P450 monooxygenases (CYP1A1 and CYP2D6), one NAD [P] H: quinone oxidoreductase (NQO1), three glutathione S-transferases (GSTM1, GSTT1 and GSTP1) and two arylamine N-acetyltransferases (NAT1 and NAT2).", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 296, "end": 301}], "disease": [{"text": "sporadic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.", "output": {"entities": {"gene": [{"text": "CREBBP", "start": 121, "end": 127}], "disease": [{"text": "ADC", "start": 75, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CREBBP", "start": 121, "end": 127}, "tail": {"text": "ADC", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "C-Fos expression as a molecular marker in corticotropin-releasing factor-induced seizures.", "output": {"entities": {"gene": [{"text": "C-Fos", "start": 0, "end": 5}], "disease": [{"text": "seizures", "start": 81, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C-Fos", "start": 0, "end": 5}, "tail": {"text": "seizures", "start": 81, "end": 89}}]}}, "schema": []}
{"input": "Glucocorticoid had potential of augmenting cardiac hypertrophy via glucocorticoid receptor even under the activation of alpha-adrenoceptor-mediated hypertrophic signaling.", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 67, "end": 90}], "disease": [{"text": "cardiac hypertrophy", "start": 43, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In limb ischemic mice, the local administration of pVHAVI promoted gastrocnemius mass and force recovery and ameliorated limb necrosis much better than the group treated with hypoxia-insensitive vector, even this last group had produced more VEGF in muscle.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 242, "end": 246}], "disease": [{"text": "necrosis", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the prognostic value of folate receptor alpha (FOLR1) and/or reduced folate carrier (RFC1) expression, which are well-characterized folate transporters, in completely resected non-small-cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "RFC1", "start": 97, "end": 101}], "disease": [{"text": "lung cancer", "start": 203, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "The adenovirus E4-ORF1 gene encodes an oncoprotein that promotes viral replication, cell survival, and transformation by activating phosphatidylinositol 3-kinase (PI3K).", "output": {"entities": {"gene": [{"text": "ORF1", "start": 18, "end": 22}], "disease": [{"text": "adenovirus", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Conversely, increasing kidney IDO1 activity or treating mice with a GCN2 agonist induced autophagy and protected mice from nephritic kidney damage.", "output": {"entities": {"gene": [{"text": "IDO1", "start": 30, "end": 34}], "disease": [{"text": "kidney damage", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "These associations, together with the recently unraveled nervous system-related functions, suggest that the relevance of TTR in physiology, particularly in neurobiology, is undervalued and that additional research in this field is needed.", "output": {"entities": {"gene": [{"text": "TTR", "start": 121, "end": 124}], "disease": [{"text": "nervous system", "start": 57, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.", "output": {"entities": {"gene": [{"text": "MKP2", "start": 62, "end": 66}], "disease": [{"text": "depression", "start": 182, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MKP2", "start": 62, "end": 66}, "tail": {"text": "depression", "start": 182, "end": 192}}]}}, "schema": []}
{"input": "Adrenocorticotrope deficiency with clinical evidence for late onset in combined pituitary hormone deficiency caused by a homozygous 301-302delAG mutation of the PROP1 gene.", "output": {"entities": {"gene": [{"text": "PROP1 gene", "start": 161, "end": 171}], "disease": [{"text": "pituitary hormone deficiency", "start": 80, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Estradiol treatment reduced weight gain and increased atrial ANP synthesis as well as decreased ANP clearance NPR-C receptors, resulting in elevation of circulating ANP level.", "output": {"entities": {"gene": [{"text": "ANP", "start": 61, "end": 64}], "disease": [{"text": "weight gain", "start": 28, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "p63 expression in salivary gland tumors: role of DeltaNp73L in neoplastic transformation.", "output": {"entities": {"gene": [{"text": "p63", "start": 0, "end": 3}], "disease": [{"text": "neoplastic transformation", "start": 63, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Acidic mammalian chitinase in asthmatic Th2 inflammation and IL-13 pathway activation.", "output": {"entities": {"gene": [{"text": "Acidic mammalian chitinase", "start": 0, "end": 26}], "disease": [{"text": "inflammation", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We found that the vascular adhesion molecule E-selectin preferentially promoted the shear-resistant adhesion and transendothelial migration of the estrogen receptor (ER) (-)/CD44 (+) hormone-independent breast cancer cells, but not of the ER (+)/CD44 (-/low) hormone-dependent breast cancer cells.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 147, "end": 164}], "disease": [{"text": "adhesion", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "To examine choroidal melanomas for genomic instability, manifested by microsatellite instability (MSI) and mismatch repair (MMR) protein alterations, and to determine the association of these alterations with selected clinicopathological features of the tumors.", "output": {"entities": {"gene": [{"text": "MMR", "start": 124, "end": 127}], "disease": [{"text": "microsatellite instability", "start": 70, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In amyotrophic lateral sclerosis (ALS) patients with known genetic cause, mutations in chromosome 9 open reading frame 72 (C9orf72) and superoxide dismutase 1 (SOD1) account for most familial and late-onset sporadic cases, whereas mutations in fused in sarcoma (FUS) can be identified in just around 5% of familial and 1% of overall sporadic cases.", "output": {"entities": {"gene": [{"text": "FUS", "start": 262, "end": 265}], "disease": [{"text": "sporadic", "start": 207, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Caco2 cells stably expressing a hypoxic response element (HRE)-driven luciferase promoter confirmed that ADM activates the HIF signaling pathway.", "output": {"entities": {"gene": [{"text": "ADM", "start": 105, "end": 108}], "disease": [{"text": "hypoxic", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "As a result, aberrant methylation of BCL2L10 was detected in 38% of gastric cancer and in 24% of corresponding non-neoplastic mucosae and correlated with low expression of BCL2L10.", "output": {"entities": {"gene": [{"text": "BCL2L10", "start": 37, "end": 44}], "disease": [{"text": "non-neoplastic", "start": 111, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma (P = 4. 2 x 10 (-6), 2. 2 x 10 (-5) and 2. 4 x 10 (-4), respectively).", "output": {"entities": {"gene": [{"text": "WDR36", "start": 8, "end": 13}], "disease": [{"text": "asthma", "start": 119, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WDR36", "start": 8, "end": 13}, "tail": {"text": "asthma", "start": 119, "end": 125}}]}}, "schema": []}
{"input": "In addition, heterozygous mutations or gene deletions in the growth hormone-insulin-like growth factor (GH-IGF) axis such as the GH, GH-releasing hormone receptor, GH receptor, STAT5b, IGF-I, IGF-I receptor and the acid labile subunit have also been observed in children with growth failure and short stature.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 146, "end": 162}], "disease": [{"text": "short stature", "start": 295, "end": 308}]}, "relations": {}}, "schema": []}
{"input": "Here we report an additional five breakpoint junction sequences from t-AML patients with the RUNX1-RUNX1T1 translocation.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 93, "end": 98}], "disease": [{"text": "translocation", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Treatment with gold in the form of aurothiomaleate, silver or mercury (Hg) in genetically susceptible mouse strains (H-2 (s)) induces a systemic autoimmune condition characterized by anti-nuclear antibodies targeting the 34-kDa nucleolar protein fibrillarin, as well as lymphoproliferation and systemic immune-complex (IC) deposits.", "output": {"entities": {"gene": [{"text": "fibrillarin", "start": 246, "end": 257}], "disease": [{"text": "autoimmune condition", "start": 145, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "fibrillarin", "start": 246, "end": 257}, "tail": {"text": "autoimmune condition", "start": 145, "end": 165}}]}}, "schema": []}
{"input": "Our results show that ORNT1 encodes the mitochondrial ornithine transporter involved in UC function and is defective in HHH syndrome.", "output": {"entities": {"gene": [{"text": "ORNT1", "start": 22, "end": 27}], "disease": [{"text": "HHH syndrome", "start": 120, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ORNT1", "start": 22, "end": 27}, "tail": {"text": "HHH syndrome", "start": 120, "end": 132}}]}}, "schema": []}
{"input": "The present study used the U87 MG and SHG-44 human glioma cell lines as well as the normal human astrocyte cell line 1800, which are known to have differential NDRG1 expression.", "output": {"entities": {"gene": [{"text": "U87", "start": 27, "end": 30}], "disease": [{"text": "glioma", "start": 51, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In transformed breast epithelial cells under hypoxia, the mTOR and S6 kinases are constitutively activated and the mTOR negative regulator tuberous sclerosis complex 2 (TSC2) protein fails to function.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 169, "end": 173}], "disease": [{"text": "hypoxia", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Using a tumor necrosis factor (TNF)-α-induced bone marrow (BM)-MSC injury model in vitro and a rat MI model in vivo, we showed in the current study that miR-23a was involved in TNF-α-induced BM-MSC apoptosis through regulating caspase-7 and that the injection of BM-MSCs overexpressing miR-23a could improve left ventricular (LV) function and reduce infarct size in the rat MI model.", "output": {"entities": {"gene": [{"text": "MSC", "start": 63, "end": 66}], "disease": [{"text": "infarct", "start": 350, "end": 357}]}, "relations": {}}, "schema": []}
{"input": "There were 14 GD + PD patients: all Ashkenazi Jewish; 11 males (78. 6%); mean (range) age diagnosed GD 34. 2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57. 8 (43-70) years; first PD sign was tremor in 9 (64. 3%); cognitive dysfunction in all.", "output": {"entities": {"gene": [{"text": "ERT", "start": 223, "end": 226}], "disease": [{"text": "cognitive dysfunction", "start": 323, "end": 344}]}, "relations": {}}, "schema": []}
{"input": "We measured cerebral atrophy, medial temporal atrophy (MTA), WMH, and a rating of cerebrovascular disease (CVR) via MRI in 815 participants from 424 families of the Multi-Institutional Research in Alzheimer' s Genetic Epidemiology Study.", "output": {"entities": {"gene": [{"text": "MRI", "start": 116, "end": 119}], "disease": [{"text": "cerebrovascular disease", "start": 82, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We discuss the role of ApoJ during cellular senescence and tumorigenesis, especially under the light of the recently demonstrated various ApoJ intracellular protein forms and their interaction with molecules involved in signal transduction and DNA repair, raising the possibility that its overexpression during cellular senescence might cause a predisposition to cancer.", "output": {"entities": {"gene": [{"text": "ApoJ", "start": 23, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Using cells endogenously expressing D3, we found that hypoxia induced expression of the D3 gene DIO3 by a hypoxia-inducible factor-dependent (HIF-dependent) pathway.", "output": {"entities": {"gene": [{"text": "DIO3", "start": 96, "end": 100}], "disease": [{"text": "hypoxia", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "To further characterize a previously described phenotypic variant of geographic atrophy (GA) associated with rapid progression and a diffuse-trickling appearance on fundus autofluorescence (FAF).", "output": {"entities": {"gene": [{"text": "FAF", "start": 190, "end": 193}], "disease": [{"text": "geographic atrophy", "start": 69, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "As ANXA1 constitutively activates NF-κB activity to modulate breast cancer metastasis, we found that miR26b * and miR562 directly targeted the canonical NF-κB pathway by targeting the 3' UTR and inhibiting expression of Rel A (p65) and NF-κB1 (p105) respectively.", "output": {"entities": {"gene": [{"text": "miR562", "start": 114, "end": 120}], "disease": [{"text": "metastasis", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "On induction of differentiation by retinoic acid, a sequential expression was found in human neuroblastoma, where ANKK1 was expressed first, followed by that of DRD2.", "output": {"entities": {"gene": [{"text": "ANKK1", "start": 114, "end": 119}], "disease": [{"text": "neuroblastoma", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Additionally, CDH1 testing could be considered in patients with bilateral or familial LBC before the age of 50, patients with DGC and cleft lip/palate, and those with precursor lesions for signet ring cell carcinoma.", "output": {"entities": {"gene": [{"text": "LBC", "start": 86, "end": 89}], "disease": [{"text": "signet ring cell carcinoma", "start": 189, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "To determine if human point mutations could be detected using denaturing gradient gels (DGG blots), genomic DNA samples from hemophilia A families were analyzed for mutations in the factor VIII (FVIII) gene.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 195, "end": 200}], "disease": [{"text": "hemophilia A", "start": 125, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FVIII", "start": 195, "end": 200}, "tail": {"text": "hemophilia A", "start": 125, "end": 137}}]}}, "schema": []}
{"input": "We investigated the anticancer effects of tanshinones on the highly invasive human lung adenocarcinoma cell line, CL1-5.", "output": {"entities": {"gene": [{"text": "CL1", "start": 114, "end": 117}], "disease": [{"text": "lung adenocarcinoma", "start": 83, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted FRMD7 expression in neuronal tissue with strong hybridization signals within the afferent arms of the vestibulo-ocular reflex consisting of the otic vesicle, cranial nerve VIII and vestibular ganglia.", "output": {"entities": {"gene": [{"text": "FRMD7", "start": 104, "end": 109}], "disease": [{"text": "arms", "start": 194, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Sixty days after induction of meningitis, the animals underwent behavioral tests, after were killed and the hippocampus and cortex were retired for analyze of the BDNF and NGF levels.", "output": {"entities": {"gene": [{"text": "NGF", "start": 172, "end": 175}], "disease": [{"text": "meningitis", "start": 30, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Malignant transformation of colonic mucosa is associated with alterations in CD44 expression, which result in up-regulation of high-molecular-weight CD44 isoforms and down-regulation of CD44s.", "output": {"entities": {"gene": [{"text": "CD44", "start": 77, "end": 81}], "disease": [{"text": "weight", "start": 142, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Elderly patients with a V592fs/8 mutation in the MyBPC gene may evolve into the \" end-stage \" HCM, characterized by left ventricular systolic dysfunction, cavity dilation, and irreversible heart failure.", "output": {"entities": {"gene": [{"text": "MyBPC", "start": 49, "end": 54}], "disease": [{"text": "dilation", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "As a consequence house dust mite-and IL-33-driven lung inflammation, late phase cutaneous anaphylaxis, and collagen-induced arthritis were aggravated, in contrast to experimental autoimmune encephalomyelitis and immediate anaphylaxis.", "output": {"entities": {"gene": [{"text": "IL-33", "start": 37, "end": 42}], "disease": [{"text": "lung inflammation", "start": 50, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-33", "start": 37, "end": 42}, "tail": {"text": "lung inflammation", "start": 50, "end": 67}}]}}, "schema": []}
{"input": "Genomic basis of aromatase excess syndrome: recombination-and replication-mediated rearrangements leading to CYP19A1 overexpression.", "output": {"entities": {"gene": [{"text": "CYP19A1", "start": 109, "end": 116}], "disease": [{"text": "aromatase excess syndrome", "start": 17, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP19A1", "start": 109, "end": 116}, "tail": {"text": "aromatase excess syndrome", "start": 17, "end": 42}}]}}, "schema": []}
{"input": "This study strongly supports a critical role of Fli1 and Ets1 in the pathological extracellular matrix regulation during fibrosis and cancer.", "output": {"entities": {"gene": [{"text": "Ets1", "start": 57, "end": 61}], "disease": [{"text": "fibrosis", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor A (VEGFA) is a critical proangiogenic factor that is activated by hypoxia at both the transcriptional and post-transcriptional levels.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 38, "end": 43}], "disease": [{"text": "hypoxia", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Intracerebroventricular injection of salmon calcitonin (1 micrograms/kg) prevented apomorphine-induced hyperactivity in 2, 7, 18 or 21 month old rats, but potentiated haloperidol-induced catalepsy only in 2 or 7 month old rats.", "output": {"entities": {"gene": [{"text": "calcitonin (1", "start": 44, "end": 57}], "disease": [{"text": "catalepsy", "start": 187, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "calcitonin (1", "start": 44, "end": 57}, "tail": {"text": "catalepsy", "start": 187, "end": 196}}]}}, "schema": []}
{"input": "Moreover, we found that cytoplasmic p27 bound to a cleaved intermediate (p43/p41) of caspase 8 and that inhibition of cytoplasmic translocation of p27 reduced gefitinib-induced cell death in HCC827 cells.", "output": {"entities": {"gene": [{"text": "p43", "start": 73, "end": 76}], "disease": [{"text": "translocation", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Modulation of these microRNAs resensitizes PTX-resistant cancer cells by targeting BCL10, caspase-7, and ZEB1.", "output": {"entities": {"gene": [{"text": "ZEB1", "start": 105, "end": 109}], "disease": [{"text": "resistant cancer", "start": 47, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We found that hypoxic stress induced the expressions of HIF-1alpha, COX-2, and VEGF, and that IkappaBalphaM completely suppressed these expressions in vitro.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 79, "end": 83}], "disease": [{"text": "hypoxic", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "These findings suggested that ATP7B gene expression might be a chemoresistance marker for cisplatin in patients with poorly differentiated breast carcinoma.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 30, "end": 35}], "disease": [{"text": "breast carcinoma", "start": 139, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATP7B", "start": 30, "end": 35}, "tail": {"text": "breast carcinoma", "start": 139, "end": 155}}]}}, "schema": []}
{"input": "Resveratrol inhibits hypoxia-induced accumulation of hypoxia-inducible factor-1alpha and VEGF expression in human tongue squamous cell carcinoma and hepatoma cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 89, "end": 93}], "disease": [{"text": "hypoxia", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Current evidence suggests that colorectal tumors from LS patients tend to have better prognoses than their sporadic counterparts, however survival benefits for other cancers encountered in LS are unclear. In this article we describe a family with a novel protein truncating mutation of c. 2388delT in the MSH2 gene, particularly focusing on one individual carrier affected with multiple primary cancers who is surviving 25 years on.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 305, "end": 309}], "disease": [{"text": "LS", "start": 54, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSH2", "start": 305, "end": 309}, "tail": {"text": "LS", "start": 54, "end": 56}}]}}, "schema": []}
{"input": "Here we observed a positive effect of endogenous PTHrP on LoVo (human colon cancer) cell proliferation, migration, invasion, integrin alpha6 and beta4 expression, and p-Akt levels.", "output": {"entities": {"gene": [{"text": "beta4", "start": 145, "end": 150}], "disease": [{"text": "colon cancer", "start": 70, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Fentanyl/propofol anesthesia, supplemented by postoperative morphine where necessary, protects from surgical stress and postoperative pain, as denoted by no postoperative increase of beta-endorphin in all age groups.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 183, "end": 197}], "disease": [{"text": "anesthesia", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Parvovirus B19 (B19) disease is a rare cause of anemia in cancer patients and often goes unrecognized, causing delays in anticancer therapy.", "output": {"entities": {"gene": [{"text": "B19", "start": 11, "end": 14}], "disease": [{"text": "cancer", "start": 58, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "For example, submicroscopic perturbations of the RB1 and p53 tumor suppressor genes, located in 13q14 and 17p13, respectively, frequently occur in leukemias; this has been confirmed by molecular methods such as fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 247, "end": 251}], "disease": [{"text": "leukemias", "start": 147, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The short alleles of 5-HTTLPR moderated the relationship between childhood maltreatment and chronic depression in adulthood, reflected in a significant gene-environment interaction (RD = 0. 226, 95% CI: 0. 076-0. 376, P =. 0032).", "output": {"entities": {"gene": [{"text": "5-HTTLPR", "start": 21, "end": 29}], "disease": [{"text": "chronic depression", "start": 92, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HTTLPR", "start": 21, "end": 29}, "tail": {"text": "chronic depression", "start": 92, "end": 110}}]}}, "schema": []}
{"input": "NBPF1 (Neuroblastoma Breakpoint Family, member 1) was originally identified in a neuroblastoma patient on the basis of its disruption by a chromosomal translocation t (1; 17) (p36. 2; q11. 2).", "output": {"entities": {"gene": [{"text": "Neuroblastoma Breakpoint Family, member 1", "start": 7, "end": 48}], "disease": [{"text": "chromosomal translocation", "start": 139, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Nutrient intake, weight, and Leu7Pro polymorphism in prepro-neuropeptide Y in children.", "output": {"entities": {"gene": [{"text": "prepro-neuropeptide Y", "start": 53, "end": 74}], "disease": [{"text": "weight", "start": 17, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Ectopic expression of mutant KRAS (K-ras (V12)) in Caco-2 cells (K-ras (WT)) induced ADM, whereas selective knockdown of mutant KRAS alleles (K-ras (D13) or K-ras (V12)) in HCT116, DLD1 and SW480 colon cancer cells suppressed the expression of ADM in hypoxia.", "output": {"entities": {"gene": [{"text": "ADM", "start": 85, "end": 88}], "disease": [{"text": "hypoxia", "start": 251, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "No other sociodemographic (e. g., education and income), clinical (e. g., systolic BP and smoking), or laboratory (e. g., net endogenous acid production, urinary sodium and potassium excretions, 25-hydroxy vitamin D, intact parathyroid hormone, or fibroblast growth factor 23) variables modified the association between APOL1 and CKD progression (P interaction > 0. 05 for each).", "output": {"entities": {"gene": [{"text": "fibroblast growth factor 23", "start": 248, "end": 275}], "disease": [{"text": "smoking", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We observed that the expression of amphiregulin, betacellulin and epiregulin was significantly increased in young EPP mice when compared to aged-matched controls in all genetic backgrounds.", "output": {"entities": {"gene": [{"text": "betacellulin", "start": 49, "end": 61}], "disease": [{"text": "EPP", "start": 114, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "betacellulin", "start": 49, "end": 61}, "tail": {"text": "EPP", "start": 114, "end": 117}}]}}, "schema": []}
{"input": "In addition, higher IL-22 and IL-17A mRNA levels were detected in both AR and asymptomatic seroatopic children, compared to healthy individuals, and a correlation between IL-22 and IL17A mRNA and serum total IgE levels was demonstrated.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 20, "end": 25}], "disease": [{"text": "asymptomatic", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "AID binds to transcription-induced structures in c-MYC that map to regions associated with translocation and hypermutation.", "output": {"entities": {"gene": [{"text": "AID", "start": 0, "end": 3}], "disease": [{"text": "translocation", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "It has been reported previously that the bcl-2 protooncogene protein is detectable in neoplastic cells from cases of human lymphoma in which the 14; 18 chromosomal translocation is present, but not in lymphomas that lack this chromosomal rearrangement or in normal lymphoid tissue.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 41, "end": 46}], "disease": [{"text": "chromosomal translocation", "start": 152, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most common subtype of Usher syndrome and is characterized by hearing loss and retinitis pigmentosa.", "output": {"entities": {"gene": [{"text": "USH2A", "start": 4, "end": 9}], "disease": [{"text": "Usher syndrome type IIa", "start": 43, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USH2A", "start": 4, "end": 9}, "tail": {"text": "Usher syndrome type IIa", "start": 43, "end": 66}}]}}, "schema": []}
{"input": "Three novel and six previously reported disease-causing CHST6 mutations were identified, which expands the mutational spectrum of MCD.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 56, "end": 61}], "disease": [{"text": "MCD", "start": 130, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 56, "end": 61}, "tail": {"text": "MCD", "start": 130, "end": 133}}]}}, "schema": []}
{"input": "In the present study, the action of anti-inflammatory agents, nordihydroguaretic acid (NDGA) is analyzed in HIV-1 infected CXCR4 (+), CCR5 (+) and CD4 (-) SK-N-SH neuroblastoma, CXCR4 (+), CCR5 (+) and CD4 (-) 1321N1 astrocytoma and CXCR4 (+), CCR5 (+/-) and CD4 (-) GO-G-CCM glioblastoma cell lines.", "output": {"entities": {"gene": [{"text": "CD4", "start": 147, "end": 150}], "disease": [{"text": "glioblastoma", "start": 276, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "The extent to which these events in the phagosomes of human PMN contribute to the increased morbidity and mortality of infections with USA300 (LAC) merits further study.", "output": {"entities": {"gene": [{"text": "LAC", "start": 143, "end": 146}], "disease": [{"text": "infections", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Our results extend the correlation between dismal prognosis and Kv10. 1 expression to patients with brain metastases or GBMs and, moreover, they strongly suggest a role of tricyclic antidepressants for personalized therapy of brain malignancies.", "output": {"entities": {"gene": [{"text": "Kv10. 1", "start": 64, "end": 71}], "disease": [{"text": "brain metastases", "start": 100, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "A single nucleotide polymorphism (SNP) (-50 T/C) falling into the effective promoter region (nt-171 to + 29) of the gene coding for glycogen synthase kinase 3-beta (GSK3-beta) has been linked with different age at onset of bipolar illness and with different antidepressant effects of total sleep deprivation.", "output": {"entities": {"gene": [{"text": "glycogen synthase kinase 3-beta", "start": 132, "end": 163}], "disease": [{"text": "sleep deprivation", "start": 290, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "Six binding elements for Wnt/β-catenin signalling transcription factor binding elements (T-cell factor/lymphoid enhancing factor) were identified in the human ALDH1B1 gene promoter (3 kb) but shown by dual luciferase reporter assay to not be necessary for ALDH1B1 mRNA expression in colon adenocarcinoma cell lines.", "output": {"entities": {"gene": [{"text": "ALDH1B1", "start": 159, "end": 166}], "disease": [{"text": "colon adenocarcinoma", "start": 283, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "To investigate the associations among the number of polyploid giant cancer cells (PGCCs) and vasculogenic mimicry (VM), EZH2 expression, and serous ovarian tumor grade, a total of 80 paraffin-embedded serous ovarian tumor samples including 21 cases of primary carcinoma and their metastatic tumors, 26 cases of primary carcinoma without metastasis, and 12 cases of serous borderline cystadenoma were analyzed.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 120, "end": 124}], "disease": [{"text": "giant", "start": 62, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Malignant growths in the gp130 (F/F): Kras (G12D) model displayed features of atypical adenomatous hyperplasia, adenocarcinoma in situ, and invasive adenocarcinoma throughout the lung, as compared with parental Kras (G12D) mice, where STAT3 was not hyperactivated.", "output": {"entities": {"gene": [{"text": "gp130", "start": 25, "end": 30}], "disease": [{"text": "adenocarcinoma in situ", "start": 112, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Stimulation of human U87-MG glioma cells by membrane-permeable dibutyryl cAMP (dbcAMP) not only elicited their morphological changes but also induced expression of IEX-1 as well as S-100 and GFAP.", "output": {"entities": {"gene": [{"text": "U87", "start": 21, "end": 24}], "disease": [{"text": "glioma", "start": 28, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Loss of ACE2 resulted in decreased weight gain but increased glucose intolerance, epicardial adipose tissue (EAT) inflammation, and polarization of macrophages into a proinflammatory phenotype in response to HFD.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 8, "end": 12}], "disease": [{"text": "weight gain", "start": 35, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "A second patient had decidualized endometriosis forming a large abdominal mass and HMGA1 rearrangement by FISH.", "output": {"entities": {"gene": [{"text": "FISH", "start": 106, "end": 110}], "disease": [{"text": "endometriosis", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The study populations indicating a strong association between TNF-α G-308A and IL-6 G-174C substitution with infertile men which is further supported by allele and genotype meta-analysis and thus established it as a risk factor.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 79, "end": 83}], "disease": [{"text": "infertile", "start": 109, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Patients showing clonal BM MCs were grouped into indolent systemic mastocytosis without skin lesions (ISMs (-); n = 48) and other c-MCADs (n = 3)-both with CD25 (+ +) BM MCs and either positive mast/stem cell growth factor receptor gene (KIT) mutation or clonal human androgen receptor assay (HUMARA) tests-and nc-MCAD (CD25-negative BM MCs in the absence of KIT mutation; n = 32) and compared for their clinical, biological, and molecular characteristics.", "output": {"entities": {"gene": [{"text": "CD25", "start": 156, "end": 160}], "disease": [{"text": "indolent systemic mastocytosis", "start": 49, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Gastroesophageal reflux is a risk factor for esophageal adenocarcinoma, and bile acid and its farnesoid X receptor (FXR) have been implicated in esophageal tumorigenesis.", "output": {"entities": {"gene": [{"text": "FXR", "start": 116, "end": 119}], "disease": [{"text": "esophageal", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we find the presence of an AID/APOBEC mutational signature in esophageal adenocarcinomas, a type of tumor where APOBEC1 is expressed, that mimics the one preferred by APOBEC1 in vitro.", "output": {"entities": {"gene": [{"text": "AID", "start": 37, "end": 40}], "disease": [{"text": "esophageal", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "This study identifies two new mutations, confirms SCN4A as a common cause of paramyotonia congenita in the UK, and suggests further allelic and possibly genetic heterogeneity.", "output": {"entities": {"gene": [{"text": "SCN4A", "start": 50, "end": 55}], "disease": [{"text": "paramyotonia congenita", "start": 77, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN4A", "start": 50, "end": 55}, "tail": {"text": "paramyotonia congenita", "start": 77, "end": 99}}]}}, "schema": []}
{"input": "Although the role of nuclear ASPP2-Bcl-2 complexes is still unclear, our results suggest that nuclear ASPP2 can prevent the translocation of the remaining Bcl-2 to the cytoplasm by binding to Bcl-2 in a CHOP-dependent manner, and this effect also contributes to Beclin-1-initiated autophagy.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 35, "end": 40}], "disease": [{"text": "translocation", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that common AGGF1 variants confer risk of KTS.", "output": {"entities": {"gene": [{"text": "AGGF1", "start": 34, "end": 39}], "disease": [{"text": "KTS", "start": 64, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGGF1", "start": 34, "end": 39}, "tail": {"text": "KTS", "start": 64, "end": 67}}]}}, "schema": []}
{"input": "However, five muscle biopsies from central core disease presumably with disturbed intracellular Ca2 + homeostasis and a muscle biopsy from paramyotonia congenita with myotonia showed no activation of these proteins.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 96, "end": 99}], "disease": [{"text": "paramyotonia congenita", "start": 139, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that TLR4, IL17A, IL17F and IL23R polymorphisms as well as the expression of microRNAs that regulate inflammation and the TH17 pathway are associated with the evolution and progression of the colorectal tumor that could be considered as biomarkers in colorectal cancer.", "output": {"entities": {"gene": [{"text": "IL17F", "start": 40, "end": 45}], "disease": [{"text": "inflammation", "start": 123, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Erythropoietin receptor expression and correlation to tamoxifen response and prognosis in breast cancer.", "output": {"entities": {"gene": [{"text": "Erythropoietin receptor", "start": 0, "end": 23}], "disease": [{"text": "breast cancer", "start": 90, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Erythropoietin receptor", "start": 0, "end": 23}, "tail": {"text": "breast cancer", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "We and others previously showed that polyamines (PA) like spermidine and spermine are essential for NB tumorigenesis and that DFMO, an inhibitor of the key PA synthesis gene product ODC, is effective both in vitro and in vivo, securing its evaluation in NB clinical trials.", "output": {"entities": {"gene": [{"text": "ODC", "start": 182, "end": 185}], "disease": [{"text": "tumorigenesis", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Activation of matrix metalloproteinases (MMPs) facilitates smooth muscle cell (SMC) invasion, an important event in the development of intimal hyperplasia in saphenous vein (SV) bypass grafts.", "output": {"entities": {"gene": [{"text": "SMC", "start": 79, "end": 82}], "disease": [{"text": "intimal hyperplasia", "start": 135, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In this work, we describe the biochemical characterization of six missense glucokinase mutations associated with MODY2 from Spanish patients, namely, Y61S, V182L, C233R, E265K, A379V, and K420E.", "output": {"entities": {"gene": [{"text": "glucokinase", "start": 75, "end": 86}], "disease": [{"text": "MODY2", "start": 113, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glucokinase", "start": 75, "end": 86}, "tail": {"text": "MODY2", "start": 113, "end": 118}}]}}, "schema": []}
{"input": "We therefore report here on the immunocytochemical expression of three small proteoglycans, i. e., decorin, biglycan, and the recently described PG-100, in normal human skin and in basal cell carcinoma.", "output": {"entities": {"gene": [{"text": "biglycan", "start": 108, "end": 116}], "disease": [{"text": "basal cell carcinoma", "start": 181, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "We compared the expression of GLS1 and GLS2 in a large set of clinical samples including HCC, normal liver, and other liver diseases.", "output": {"entities": {"gene": [{"text": "HCC", "start": 89, "end": 92}], "disease": [{"text": "liver diseases", "start": 118, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The results of the TRH test and the DST point to similar endocrinological patterns in alcoholics as in depressive patients and thus support the hypothesis of a link between alcoholism and depression.", "output": {"entities": {"gene": [{"text": "TRH", "start": 19, "end": 22}], "disease": [{"text": "depression", "start": 188, "end": 198}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 19, "end": 22}, "tail": {"text": "depression", "start": 188, "end": 198}}]}}, "schema": []}
{"input": "The efficacy of NVP-BKM120 was tested using intracranial U87 glioma model.", "output": {"entities": {"gene": [{"text": "U87", "start": 57, "end": 60}], "disease": [{"text": "glioma", "start": 61, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In palladium sensitive patients, there were significant increases of DRB4 (R. R. = 15. 48, p & lt; 0. 05), DR4 (R. R. = 13. 27, p & lt; 0. 005), DRB1 * 0405 (R. R. = 4. 43, p & lt; 0. 05), and DQB1 * 0401 (R. R.", "output": {"entities": {"gene": [{"text": "DRB4", "start": 69, "end": 73}], "disease": [{"text": "sensitive", "start": 13, "end": 22}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DRB4", "start": 69, "end": 73}, "tail": {"text": "sensitive", "start": 13, "end": 22}}]}}, "schema": []}
{"input": "This is linked to the activation and translocation of Bax to the mitochondrial membrane, cytochrome c release into the cytosol, and activation of caspase-3, in a PUMA-dependent manner.", "output": {"entities": {"gene": [{"text": "PUMA", "start": 162, "end": 166}], "disease": [{"text": "translocation", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We found biochemical evidence suggesting that resveratrol protects against Wallerian degeneration by promoting the dissociation of SIRT1 and DBC1 in cultured ganglia.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 131, "end": 136}], "disease": [{"text": "Wallerian degeneration", "start": 75, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT1", "start": 131, "end": 136}, "tail": {"text": "Wallerian degeneration", "start": 75, "end": 97}}]}}, "schema": []}
{"input": "DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.", "output": {"entities": {"gene": [{"text": "ITPA", "start": 21, "end": 25}], "disease": [{"text": "inosine triphosphatase deficiency", "start": 45, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITPA", "start": 21, "end": 25}, "tail": {"text": "inosine triphosphatase deficiency", "start": 45, "end": 78}}]}}, "schema": []}
{"input": "The CYP21A2 genotype analysis identified six different mutants and revealed a carrier frequency of 9. 83% with the mild p. Val281Leu being the most frequent (4. 3%), followed by p. Qln318stop (2. 5%), p. Pro453Ser (1. 33%), p. Val304Met (0. 83%), p. Pro482Ser (0. 67%) and p. Met283Val (0. 17%).", "output": {"entities": {"gene": [{"text": "CYP21A2", "start": 4, "end": 11}], "disease": [{"text": "mild", "start": 115, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "All seven patients had granulomas staining positive for IFN-gamma, TNF-alpha and IL-12p40, but only four stained positive for IL-4.", "output": {"entities": {"gene": [{"text": "IFN", "start": 56, "end": 59}], "disease": [{"text": "granulomas", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "SHRs showed significant increases in blood pressure, micturition frequency, tissue levels of NGF and expressions of both K (IR) 6. 1 and K (IR) 6. 2 mRNAs, and a significant decrease in the bladder blood flow.", "output": {"entities": {"gene": [{"text": "NGF", "start": 93, "end": 96}], "disease": [{"text": "micturition frequency", "start": 53, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Here, we explored the effect of GPR119 on cholesterol metabolism and inflammation in THP-1 macrophages and atherosclerotic plaque progression in apoE (-/-) mice.", "output": {"entities": {"gene": [{"text": "GPR119", "start": 32, "end": 38}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "HSPA12A messenger ribonucleic acid was significantly reduced (p & lt;. 01; mean log2 optical density difference =-. 84) across subjects with schizophrenia but not in the DLPFC of subjects with major depression or in monkeys chronically treated with haloperidol.", "output": {"entities": {"gene": [{"text": "HSPA12A", "start": 0, "end": 7}], "disease": [{"text": "schizophrenia", "start": 141, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSPA12A", "start": 0, "end": 7}, "tail": {"text": "schizophrenia", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "We investigated the p22 (phox) C242T single-nucleotide polymorphism by polymerase chain reaction in consecutive patients with ischemic stroke or transient ischemic attack under the age of 50 (n = 161) and in population-based control subjects (n = 136).", "output": {"entities": {"gene": [{"text": "p22", "start": 20, "end": 23}], "disease": [{"text": "ischemic stroke", "start": 126, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "A combination treatment with IL-7 and agonist anti-4-1BB antibody at 3 wk after LCMV clone 13 infection expands T cells and reduces viral load in a TRAF1-dependent manner.", "output": {"entities": {"gene": [{"text": "TRAF1", "start": 148, "end": 153}], "disease": [{"text": "viral load", "start": 132, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Mutations of CTNS causing intermediate cystinosis.", "output": {"entities": {"gene": [{"text": "CTNS", "start": 13, "end": 17}], "disease": [{"text": "intermediate cystinosis", "start": 26, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTNS", "start": 13, "end": 17}, "tail": {"text": "intermediate cystinosis", "start": 26, "end": 49}}]}}, "schema": []}
{"input": "In this work, we identify biallelic rare, predicted-deleterious ARMC9 variants (stop-gain, missense, splice-site, and single-exon deletion) in 11 individuals with JS from 8 families, accounting for approximately 1% of the disorder.", "output": {"entities": {"gene": [{"text": "ARMC9", "start": 64, "end": 69}], "disease": [{"text": "JS", "start": 163, "end": 165}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARMC9", "start": 64, "end": 69}, "tail": {"text": "JS", "start": 163, "end": 165}}]}}, "schema": []}
{"input": "Our in vitro data demonstrate that impairment of insulin/IRS-1/PI3K signaling by overexpression of Arg972-IRS-1, knockdown of endogenous IRS-1, or PI3K inhibitor can abolish hypoxia-induced IRS-1-associated PI3K activity and ACE2 expression in human cardiomyocytes, which suggests a causal relationship between Arg972-IRS-1 and decreased serum ACE2 levels in acute MI patients.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 225, "end": 229}], "disease": [{"text": "hypoxia", "start": 174, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Pseudotyped adeno-associated virus (AAV) 2/9, composed by the AAV2 rep and AAV9 cap genes, can efficiently target lung epithelial cells and might carry gene sequences with therapeutic potential for asthma.", "output": {"entities": {"gene": [{"text": "AAV", "start": 36, "end": 39}], "disease": [{"text": "asthma", "start": 198, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Validated targets for miR-223 that have effects on inflammation and infection include granzyme B, IKKα, Roquin and STAT3.", "output": {"entities": {"gene": [{"text": "Roquin", "start": 104, "end": 110}], "disease": [{"text": "inflammation", "start": 51, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Thus, PARP activation plays an important role in cisplatin-induced kidney injury, and its pharmacological inhibition may represent a promising approach to preventing the cisplatin-induced nephropathy.", "output": {"entities": {"gene": [{"text": "PARP", "start": 6, "end": 10}], "disease": [{"text": "nephropathy", "start": 188, "end": 199}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP", "start": 6, "end": 10}, "tail": {"text": "nephropathy", "start": 188, "end": 199}}]}}, "schema": []}
{"input": "The present study indicates that miR-885-5p suppresses the metastasis of HCC and inhibits Wnt/& #946;-catenin signaling pathway by its CTNNB1 target, which suggests that miR-885-5p to be a promising negative regulator of HCC progression and as a novel therapeutic agent to treat HCC.", "output": {"entities": {"gene": [{"text": "miR-885", "start": 33, "end": 40}], "disease": [{"text": "metastasis", "start": 59, "end": 69}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-885", "start": 33, "end": 40}, "tail": {"text": "metastasis", "start": 59, "end": 69}}]}}, "schema": []}
{"input": "The identification of loss-of-function mutations in the filaggrin (FLG) gene, whose product is a key structural protein in the outermost layer of the epidermis in up to 50% of patients with AD, provides a significant insight into explaining disease initiation and points to a complex secondary interplay of environmental and immunological sequelae once barrier disruption is established.", "output": {"entities": {"gene": [{"text": "FLG", "start": 67, "end": 70}], "disease": [{"text": "secondary", "start": 284, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "CARD15 mutations in Blau syndrome.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 0, "end": 6}], "disease": [{"text": "Blau syndrome", "start": 20, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CARD15", "start": 0, "end": 6}, "tail": {"text": "Blau syndrome", "start": 20, "end": 33}}]}}, "schema": []}
{"input": "Compared with MCAO group, By-H group significantly ameliorated neurological deficit, lessened the infarct volume and brain edema, increased the expression of Nrf2, HO-1 and SOD1 (P < 0. 05), and decreased the content of MDA (P < 0. 05).", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 158, "end": 162}], "disease": [{"text": "infarct", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.", "output": {"entities": {"gene": [{"text": "ARG1 gene", "start": 171, "end": 180}], "disease": [{"text": "progressive spastic paraparesis", "start": 97, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Endothelial TLR4 activation impairs intestinal microcirculatory perfusion in necrotizing enterocolitis via eNOS-NO-nitrite signaling.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 12, "end": 16}], "disease": [{"text": "necrotizing enterocolitis", "start": 77, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR4", "start": 12, "end": 16}, "tail": {"text": "necrotizing enterocolitis", "start": 77, "end": 102}}]}}, "schema": []}
{"input": "A common variant of the PNPLA3 gene confers susceptibility to hepatic steatosis in obese youths without increasing the level of hepatic and peripheral insulin resistance.", "output": {"entities": {"gene": [{"text": "PNPLA3 gene", "start": 24, "end": 35}], "disease": [{"text": "insulin resistance", "start": 151, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Ten lncRNAs (HOTAIR, AFAP1-AS1, POU3F3, HNF1A-AS1, 91H, PlncRNA1, SPRY4-IT1, ENST00000435885. 1, XLOC_013104 and ENST00000547963. 1) which previously found to be differently expressed in esophageal cancer were selected as candidate targets for subsequent circulating lncRNA assay.", "output": {"entities": {"gene": [{"text": "HNF1A-AS1", "start": 40, "end": 49}], "disease": [{"text": "esophageal cancer", "start": 187, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Variation in IGF2BP2 interacts with adiposity to alter insulin sensitivity in Mexican Americans.", "output": {"entities": {"gene": [{"text": "IGF2BP2", "start": 13, "end": 20}], "disease": [{"text": "insulin sensitivity", "start": 55, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Other gene mutations frequently occurring in gallbladder carcinoma might be affected by this negative MGMT and MMR status.", "output": {"entities": {"gene": [{"text": "MMR", "start": 111, "end": 114}], "disease": [{"text": "gallbladder carcinoma", "start": 45, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, H-Ras, RhoA, and Cdc42 decrease in expression levels and activities in muscle atrophy.", "output": {"entities": {"gene": [{"text": "Cdc42", "start": 30, "end": 35}], "disease": [{"text": "muscle atrophy", "start": 84, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Moreover; (3) CoCl (2), an inducer of Hypoxia Inducible Factor (HIF)-1alpha, increased the expression of MUC1 mRNA; and (4) HIF-1alpha-targeted siRNA but not its control siRNA decreased hypoxia-induced MUC1 mRNA.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 105, "end": 109}], "disease": [{"text": "hypoxia", "start": 186, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that null mutations in the rhodopsin kinase gene are a cause of Oguchi disease and extend the known genetic heterogeneity in congenital stationary night blindness.", "output": {"entities": {"gene": [{"text": "rhodopsin kinase", "start": 48, "end": 64}], "disease": [{"text": "Oguchi disease", "start": 85, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "rhodopsin kinase", "start": 48, "end": 64}, "tail": {"text": "Oguchi disease", "start": 85, "end": 99}}]}}, "schema": []}
{"input": "Our study demonstrates that Hsc70 is a prerequisite for the surface translocation and angiogenic function of NCL, which suggests strategies to target both Hsc70 and NCL for more effective antiangiogenic therapies.", "output": {"entities": {"gene": [{"text": "Hsc70", "start": 28, "end": 33}], "disease": [{"text": "translocation", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "αB-crystallin over-expression disrupts Smad4 mono-ubiquitination by interacting with its E3-ubiquitin ligase, TIF1γ, thus limiting its nuclear export.", "output": {"entities": {"gene": [{"text": "TIF1γ", "start": 110, "end": 115}], "disease": [{"text": "mono", "start": 45, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by white matter edema.", "output": {"entities": {"gene": [{"text": "MLC", "start": 60, "end": 63}], "disease": [{"text": "edema", "start": 128, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "By multivariate analysis, IL-6 > 5. 8 ng/L and CRP > 2. 6 mg/L were independently related to the presence of complex coronary plaque (P = 0. 0002 and 0. 004, respectively).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 26, "end": 30}], "disease": [{"text": "plaque", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In the 8; 21 translocation, the AML1 gene, located at chromosome band 21q22, is translocated to chromosome 8 (q22), where it is fused to the ETO gene and transcribed as a chimeric gene.", "output": {"entities": {"gene": [{"text": "AML1", "start": 32, "end": 36}], "disease": [{"text": "translocation", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "No single feature was predictive of seizure-free outcome, but there was a trend for better outcome in CD34-positive tumors (p = 0. 07).", "output": {"entities": {"gene": [{"text": "CD34", "start": 102, "end": 106}], "disease": [{"text": "seizure", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "These studies are the first to demonstrate that overexpression of SP-1 plays a central role in hypoxia-induced VEGF secretion.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 111, "end": 115}], "disease": [{"text": "hypoxia", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of having > 36 CGG repeats in the FMR1 gene was significantly higher in patients with POI than in controls, and age at the onset of amenorrhea was significantly lower in patients with > 38 repeats.", "output": {"entities": {"gene": [{"text": "FMR1 gene", "start": 49, "end": 58}], "disease": [{"text": "amenorrhea", "start": 147, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We conclude that ESDN is a marker of vascular remodeling and regulator of VSMC proliferation.", "output": {"entities": {"gene": [{"text": "ESDN", "start": 17, "end": 21}], "disease": [{"text": "vascular remodeling", "start": 37, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Transactivation response DNA-binding protein 43 (TDP-43) is a principal component of ubiquitinated inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions and in amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 25, "end": 44}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 189, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "On the average, without chemotherapy, hemoglobin concentrations drifted toward about 11. 1 g/dl without EPO but could be maintained at near 12. 0 g/dl with EPO.", "output": {"entities": {"gene": [{"text": "EPO", "start": 104, "end": 107}], "disease": [{"text": "hemoglobin", "start": 38, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "These included recurrent mutations in RMND1, AARS2, and MTO1, each on a haplotype background consistent with a shared founder allele, and potential novel mutations in 4 possible mitochondrial disease genes (VARS2, GARS, FLAD1, and PTCD1).", "output": {"entities": {"gene": [{"text": "FLAD1", "start": 220, "end": 225}], "disease": [{"text": "mitochondrial disease", "start": 178, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.", "output": {"entities": {"gene": [{"text": "MARK3", "start": 91, "end": 96}], "disease": [{"text": "Visual impairment and progressive phthisis bulbi", "start": 0, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MARK3", "start": 91, "end": 96}, "tail": {"text": "Visual impairment and progressive phthisis bulbi", "start": 0, "end": 48}}]}}, "schema": []}
{"input": "Nuclear receptor Nurr1 is expressed in and is associated with human restenosis and inhibits vascular lesion formation in mice involving inhibition of smooth muscle cell proliferation and inflammation.", "output": {"entities": {"gene": [{"text": "Nurr1", "start": 17, "end": 22}], "disease": [{"text": "inflammation", "start": 187, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Theca cells of obese, compared to control, pigs displayed androstenedione hypersecretion in response to in vitro treatment with LH, and up-regulated 3-beta-hydroxysteroid dehydrogenase 1 and 17-beta-hydroxysteroid dehydrogenase 4 transcript levels in response to in vitro treatment with LH or LH + insulin.", "output": {"entities": {"gene": [{"text": "3-beta-hydroxysteroid dehydrogenase 1", "start": 149, "end": 186}], "disease": [{"text": "obese", "start": 15, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "E4F1 protein is overexpressed in a large subset of human acute myeloid leukemia samples.", "output": {"entities": {"gene": [{"text": "E4F1", "start": 0, "end": 4}], "disease": [{"text": "acute myeloid leukemia", "start": 57, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the higher frequency of a haplotype of VAX1 with NSCL/P patients suggests a low penetrant gene for oral cleft, and warrants further studies.", "output": {"entities": {"gene": [{"text": "NSCL", "start": 62, "end": 66}], "disease": [{"text": "oral cleft", "start": 112, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "An ex vivo monocyte adhesion assay revealed that adhesion of THP-1 monocytes to aortas isolated from Apoe (-/-) and LDLR (-/-) mice stimulated by TNF-α or oxidized LDL was suppressed by Hic-5 deficiency.", "output": {"entities": {"gene": [{"text": "Hic-5", "start": 186, "end": 191}], "disease": [{"text": "adhesion", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Whereas lymphomas representing pre-and postfollicular B cell developmental stages are negative for BOB. 1/OBF. 1, high-level expression of BOB. 1/OBF. 1 is characteristic of germinal center-derived tumors.", "output": {"entities": {"gene": [{"text": "OBF", "start": 106, "end": 109}], "disease": [{"text": "tumors", "start": 198, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Loss of CDX2 expression was also associated with increased CK7 expression, decreased CK20 expression, CpG island methylator phenotype, microsatellite instability and BRAF mutation.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 8, "end": 12}], "disease": [{"text": "microsatellite instability", "start": 135, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We previously reported that long-term treatment with some antidepressants at low concentrations upregulates BCL2/adenovirus E1B 19-kDa-interacting protein 3 (BNIP3) mRNA expression in NG108-15 cells without causing cell damage, suggesting that BNIP3 is a candidate of intrinsic depressive disorder-related factor (s).", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 158, "end": 163}], "disease": [{"text": "adenovirus", "start": 113, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Subsequent to our identification of the t (8; 21) breakpoint region on chromosome 21, we reported that the translocation results in the fusion of the AML1 gene on chromosome 21 with a novel gene on chromosome 8 which we called ETO (for eight twenty-one).", "output": {"entities": {"gene": [{"text": "AML1", "start": 150, "end": 154}], "disease": [{"text": "translocation", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Thus, we propose that more severe EIF2S3 mutations cause the full MEHMO phenotype, while less deleterious mutations cause a milder form of the syndrome with only a subset of the symptoms.", "output": {"entities": {"gene": [{"text": "EIF2S3", "start": 34, "end": 40}], "disease": [{"text": "MEHMO", "start": 66, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EIF2S3", "start": 34, "end": 40}, "tail": {"text": "MEHMO", "start": 66, "end": 71}}]}}, "schema": []}
{"input": "We investigated DNA copy number aberrations in human esophageal squamous cell carcinoma (ESCC) cell lines using a high-density oligonucleotide microarray and found a homozygous deletion of PARD3 (the gene encoding PAR-3).", "output": {"entities": {"gene": [{"text": "PAR", "start": 189, "end": 192}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 53, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We conclude that FAM149B1 is required for normal ciliary biology and that its deficiency results in a range of ciliopathy phenotypes in humans along the spectrum of Joubert syndrome.", "output": {"entities": {"gene": [{"text": "FAM149B1", "start": 17, "end": 25}], "disease": [{"text": "Joubert syndrome", "start": 165, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FAM149B1", "start": 17, "end": 25}, "tail": {"text": "Joubert syndrome", "start": 165, "end": 181}}]}}, "schema": []}
{"input": "Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.", "output": {"entities": {"gene": [{"text": "AP4S1", "start": 40, "end": 45}], "disease": [{"text": "developmental delay", "start": 83, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AP4S1", "start": 40, "end": 45}, "tail": {"text": "developmental delay", "start": 83, "end": 102}}]}}, "schema": []}
{"input": "The polypeptides encoded by the two cloned cDNA fragments matched to portions of CA125, an ovarian cancer antigen and a giant mucin-like glycoprotein present at the surface of tumor cells.", "output": {"entities": {"gene": [{"text": "CA125", "start": 81, "end": 86}], "disease": [{"text": "giant", "start": 120, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates that disruption of the CAV1 gene--a rare structural variant associated with schizophrenia--is not only pro-psychotic but also attenuates atypical antipsychotic drug actions.", "output": {"entities": {"gene": [{"text": "CAV1", "start": 47, "end": 51}], "disease": [{"text": "schizophrenia", "start": 100, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAV1", "start": 47, "end": 51}, "tail": {"text": "schizophrenia", "start": 100, "end": 113}}]}}, "schema": []}
{"input": "We have performed a systematic review of the literature to analyze the relevance of more VDR polymorphisms (Fok1, Bsm1, Taq1, Apa1, and Cdx2) for individual malignancies, including cancer of the skin (melanoma and nonmelanoma skin cancer), ovarian cancer, renal cell carcinoma, bladder cancer, non-Hodgkin lymphoma, leukemia, thyroid carcinoma, esophageal adenocarcinoma, hepatocellular carcinoma, sarcoma, head and neck and oral squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "Apa1", "start": 126, "end": 130}], "disease": [{"text": "melanoma", "start": 201, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "p53-induced microRNA-1246 inhibits the cell growth of human hepatocellular carcinoma cells by targeting NFIB.", "output": {"entities": {"gene": [{"text": "NFIB", "start": 104, "end": 108}], "disease": [{"text": "hepatocellular carcinoma", "start": 60, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We found that hypoxia reduced PPARγ expression by a mechanism independent of both hypoxia-inducible factor (HIF) and histone deacetylases (HDACs).", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 30, "end": 35}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The authors identified 27 unrelated DMRV patients with homozygous or compound-heterozygous mutations in the GNE gene.", "output": {"entities": {"gene": [{"text": "GNE", "start": 108, "end": 111}], "disease": [{"text": "DMRV", "start": 36, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNE", "start": 108, "end": 111}, "tail": {"text": "DMRV", "start": 36, "end": 40}}]}}, "schema": []}
{"input": "Since these regions are implicated in control of both transcription and replication, we wished to determine whether BCL2 translocation was also accompanied by changes in replication timing of the translocated allele.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 116, "end": 120}], "disease": [{"text": "translocation", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We review the literature regarding the role of SCF/c-kit system in the oncogenesis of leukemia and MPD, and then discuss the significance of our finding in the context of growth advantage of the mutated clones over the normal clones.", "output": {"entities": {"gene": [{"text": "SCF", "start": 47, "end": 50}], "disease": [{"text": "leukemia", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Hyperemia and the vascular diameter of the main arteriole were significantly reduced by H (2) O (2)-scavenger Catalase, suggesting that endogenous H (2) O (2) may be one of the mediators of hyperemia in the mucosa in this animal model of intestinal inflammation.", "output": {"entities": {"gene": [{"text": "Catalase", "start": 110, "end": 118}], "disease": [{"text": "Hyperemia", "start": 0, "end": 9}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Catalase", "start": 110, "end": 118}, "tail": {"text": "Hyperemia", "start": 0, "end": 9}}]}}, "schema": []}
{"input": "The inhibition of MMP-12 expression by TGF-beta1 suggests that TGF-beta1, acting via Smad3, may promote plaque stability.", "output": {"entities": {"gene": [{"text": "Smad3", "start": 85, "end": 90}], "disease": [{"text": "plaque", "start": 104, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "We found an ALPS patient that harbored a heterozygous A530G mutation in the FasL gene that replaced Arg with Gly at position 156 in the protein' s extracellular Fas-binding region.", "output": {"entities": {"gene": [{"text": "FasL", "start": 76, "end": 80}], "disease": [{"text": "ALPS", "start": 12, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FasL", "start": 76, "end": 80}, "tail": {"text": "ALPS", "start": 12, "end": 16}}]}}, "schema": []}
{"input": "In the index cases the deficiency of SP-B was associated with qualitative and quantitative abnormalities of the surfactant proteins A and C. Immunostaining for lung surfactant proteins and a search for the 121ins2 mutation by restriction enzyme analysis of DNA extracted from paraffin-embedded lung tissue was performed for 7 additional affected infants from 6 families, bringing to 10 the total number of patients with CAP who have been studied.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 37, "end": 41}], "disease": [{"text": "abnormalities", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The Cpn burden, measured by real-time quantitative (k)-PCR using the number of organisms normalized against the number of eukaryotic cells in the tissue, was associated with plaque expression of IL-6 (Spearman R = 0. 55; P < 0. 0001), which was associated with serum levels of IL-6 (R = 0. 56; P < 0. 0001) and CRP (R = 0. 80; P < 0. 0001).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 195, "end": 199}], "disease": [{"text": "plaque", "start": 174, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Intestinal NCoR1, a regulator of epithelial cell maturation, controls neonatal hyperbilirubinemia.", "output": {"entities": {"gene": [{"text": "NCoR1", "start": 11, "end": 16}], "disease": [{"text": "neonatal hyperbilirubinemia", "start": 70, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NCoR1", "start": 11, "end": 16}, "tail": {"text": "neonatal hyperbilirubinemia", "start": 70, "end": 97}}]}}, "schema": []}
{"input": "In addition, the effects of hypoxic stimuli on Ang-1, Ang-2, vascular endothelial growth factor (VEGF), and erythropoietin (EPO) expression was investigated in Hep3B cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 97, "end": 101}], "disease": [{"text": "hypoxic", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Using Merlin software, we performed non-parametric linkage analysis to test for linkage with obesity and overweight condition and variance component analysis to test for linkage with waist circumference in our T2D siblings/families dataset. Our study shows that the PSMD9 SNPs IVS3 + nt460, IVS3 + nt437, and 197G are in linkage with overweight condition and waist circumference in Italians.", "output": {"entities": {"gene": [{"text": "PSMD9", "start": 266, "end": 271}], "disease": [{"text": "waist circumference", "start": 183, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "In the ROP model, avascular retina persisted at P14 and intravitreous neovascularization developed at P18.", "output": {"entities": {"gene": [{"text": "P14", "start": 48, "end": 51}], "disease": [{"text": "neovascularization", "start": 70, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In this study, we attempted to analyze the genetic polymorphism between SAG sensitive and resistant parasites using a total of 52 L. donovani isolates obtained either from bone marrow of VL patients or from skin lesions of post kala-azar dermal leishmaniasis (PKDL) patients that constitute an important reservoir of parasite.", "output": {"entities": {"gene": [{"text": "SAG", "start": 72, "end": 75}], "disease": [{"text": "post kala-azar dermal leishmaniasis", "start": 223, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "The positive frequency of circulating IGF-II mRNA was 34. 2% in HCC, no amplified fragment was found in other liver diseases, extrahepatic tumors, and normal controls, respectively.", "output": {"entities": {"gene": [{"text": "HCC", "start": 64, "end": 67}], "disease": [{"text": "liver diseases", "start": 110, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Neither copy of the bcl-2 gene was demethylated in this region in 5 of 5 lymphoid cell lines that lack this translocation.", "output": {"entities": {"gene": [{"text": "bcl-2 gene", "start": 20, "end": 30}], "disease": [{"text": "translocation", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetic analyses focused on the presence or absence of the immunoglobulin heavy chain (IgH) gene and/or MALT1/MLT gene alteration resulting from t (11; 18) (q21; q21) translocation.", "output": {"entities": {"gene": [{"text": "MLT", "start": 120, "end": 123}], "disease": [{"text": "translocation", "start": 177, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.", "output": {"entities": {"gene": [{"text": "Ccdc103", "start": 23, "end": 30}], "disease": [{"text": "primary ciliary dyskinesia", "start": 77, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Ccdc103", "start": 23, "end": 30}, "tail": {"text": "primary ciliary dyskinesia", "start": 77, "end": 103}}]}}, "schema": []}
{"input": "Our findings suggest that a high copy number of FAS gene confers risk for BD and VKH syndrome.", "output": {"entities": {"gene": [{"text": "FAS", "start": 48, "end": 51}], "disease": [{"text": "VKH syndrome", "start": 81, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAS", "start": 48, "end": 51}, "tail": {"text": "VKH syndrome", "start": 81, "end": 93}}]}}, "schema": []}
{"input": "The identification of inherited missense variants, somatic missense mutations (present in 3 of 57 tumors), and LOH in the tumor from a patient with a germ line missense change suggest a role for MLH3 in endometrial tumorigenesis.", "output": {"entities": {"gene": [{"text": "MLH3", "start": 195, "end": 199}], "disease": [{"text": "tumorigenesis", "start": 215, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Using a rat model of prehepatic portal hypertension with preserved hepatic function, we examined pulmonary elaboration of endothelial nitric oxide synthase (NOS), inducible NOS, heme oxygenase-1 (HO-1), heme oxygenase-2 (HO-2), endothelin-1 mRNA, and protein.", "output": {"entities": {"gene": [{"text": "HO-2", "start": 221, "end": 225}], "disease": [{"text": "portal hypertension", "start": 32, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Familial hemiplegic migraine (FHM) patients do not show hypersensitivity of the calcitonin gene-related peptide (CGRP)-cyclic adenosine 3', 5'-monophosphate pathway, as characteristically seen in migraine patients without aura.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 113, "end": 117}], "disease": [{"text": "aura", "start": 222, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "The rate of TIMP3 gene expression was 100% in non-neoplastic tissues but apparently decreased to various extents at different stages, i. e., decreased to 30% (6/20) at the early stage, to 3. 4% (2/58) at the progressive stage, and to 0% (0/78) in metastatic lymph nodes.", "output": {"entities": {"gene": [{"text": "TIMP3 gene", "start": 12, "end": 22}], "disease": [{"text": "non-neoplastic", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The connection between polyQ expansion in Httexp and MSN neurodegeneration remains elusive.", "output": {"entities": {"gene": [{"text": "MSN", "start": 53, "end": 56}], "disease": [{"text": "neurodegeneration", "start": 57, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In both MCF-7 and MDA-MB-231 cells, mild starvation reduced cell proliferation, and KDM2A knockdown suppressed the reduction of cell proliferation.", "output": {"entities": {"gene": [{"text": "KDM2A", "start": 84, "end": 89}], "disease": [{"text": "mild", "start": 36, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Sixty-six percent of patients with AFS carried at least one HLA-DQB1 * 03 allele; DQB1 * 0301 and DQB1 * 0302 were the most frequent allelic variants (odds ratio [OR] vs healthy subjects = 8. 22; 95% CI, 4. 30-15. 73; P <. 001; OR vs all patients with HSD = 1. 93; 95% CI, 1. 09-3. 41; P <. 01; OR vs atopic patients with HSD = 2. 57; 95% CI, 1. 46-4. 53; P <. 001).", "output": {"entities": {"gene": [{"text": "HLA-DQB1", "start": 60, "end": 68}], "disease": [{"text": "atopic", "start": 301, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "Transmission disequilibrium tests (TDTs) in a sample of 177 nuclear families showed significant association and linkage of the DraI polymorphism with the ADHD combined subtype (P = 0. 03), and the quantitative TDT showed association of this polymorphism with the inattentive (P = 0. 003) and hyperactive-impulsive (P = 0. 015) symptom dimensions.", "output": {"entities": {"gene": [{"text": "TDT", "start": 35, "end": 38}], "disease": [{"text": "inattentive", "start": 263, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association between idiopathic recurrent miscarriage (IRM) and the PROGINS 306 base pair insertion polymorphism in intron G of the progesterone receptor gene, which is known to segregate with progesterone-dependent neoplasms.", "output": {"entities": {"gene": [{"text": "IRM", "start": 74, "end": 77}], "disease": [{"text": "neoplasms", "start": 235, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations of MMR genes have rarely been found in families that have HNPCC or suspected HNPCC and that do not show microsatellite instability (MSI-low phenotype).", "output": {"entities": {"gene": [{"text": "MMR", "start": 22, "end": 25}], "disease": [{"text": "microsatellite instability", "start": 123, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "G protein-activated K + channel 2 (GIRK2) and cAMP-response element binding protein (CREB1) are involved in synaptic plasticity and their genes have been implicated depression and memory processing.", "output": {"entities": {"gene": [{"text": "GIRK2", "start": 35, "end": 40}], "disease": [{"text": "depression", "start": 165, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GIRK2", "start": 35, "end": 40}, "tail": {"text": "depression", "start": 165, "end": 175}}]}}, "schema": []}
{"input": "This article reports a family with a 9-year-old boy with Rett-like phenotype and congenital blindness, who inherited a novel MECP2 variant (p. P430S) from his asymptomatic mother.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 125, "end": 130}], "disease": [{"text": "asymptomatic", "start": 159, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The two SIAH isoforms compensate for each other when one is repressed; inhibition of both SIAH1 and SIAH2 using combined siRNAs significantly reduced infarct size while improving cardiac function after ischemia/reperfusion injury of the heart.", "output": {"entities": {"gene": [{"text": "SIAH2", "start": 100, "end": 105}], "disease": [{"text": "ischemia", "start": 202, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Frequent loss of heterozygosity (LOH) and mutations of the tumor suppressor gene PTEN (phosphatase and tensin homologue deleted from chromosome 10) have been found in sporadic gliomas.", "output": {"entities": {"gene": [{"text": "tensin", "start": 103, "end": 109}], "disease": [{"text": "sporadic", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The t (7; 21) (p22; q22) translocation, recently described in three cases of myeloid neoplasias, fuses the ubiquitin specific peptidase 42 gene, USP42, a member of the deubiquitinating enzyme family, to RUNX1.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 203, "end": 208}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Initial mutant-dependent damage is restricted to motor neurons and includes synapse and metabolic abnormalities, endoplasmic reticulum (ER) stress, and selective activation of the PRKR-like ER kinase (PERK) arm of the unfolded protein response.", "output": {"entities": {"gene": [{"text": "PERK", "start": 201, "end": 205}], "disease": [{"text": "abnormalities", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Basic fibroblast growth factor regulates persistent ERK oscillations in premalignant but not malignant JB6 cells.", "output": {"entities": {"gene": [{"text": "ERK", "start": 52, "end": 55}], "disease": [{"text": "premalignant", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Five giant gonadotroph adenomas were compared with 7 nonaggressive, nongiant gonadotroph cell adenomas, and no statistically significant changes in transcript levels of MIB-1 (MKI67) or TP53 were observed.", "output": {"entities": {"gene": [{"text": "TP53", "start": 186, "end": 190}], "disease": [{"text": "giant", "start": 5, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "The average percentages of positively stained cells for human MutL homolog 1 (hMLH1), human MutS homolog 2 (hMSH2), and human MutS homolog 6 (hMSH6) in RGP-CMM (75. 6 +/-3. 4%, 67. 20 +/-7. 71%, and 76. 6 +/-2. 1%, respectively) were reduced compared with benign nevi.", "output": {"entities": {"gene": [{"text": "MutL homolog 1", "start": 62, "end": 76}], "disease": [{"text": "nevi", "start": 263, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "In addition, detection of PAX8 or PAX2 in clear cell adenocarcinoma of the lower urinary tract is helpful in differentiating it from urothelial carcinoma and its variants and adenocarcinomas of the urinary bladder or of the prostate.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 26, "end": 30}], "disease": [{"text": "clear cell adenocarcinoma", "start": 42, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Thus, tumors overexpressing VEGF (165) generated dense, highly heterogeneous vessel networks that were distinctly different from those of tumors expressing VEGF (121) (poorly vascularized and necrotic).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 28, "end": 32}], "disease": [{"text": "necrotic", "start": 192, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "GPR34 belongs to the largest family of cell surface molecules involved in signal transmission that play important roles in many physiological and pathological processes, including tumorigenesis.", "output": {"entities": {"gene": [{"text": "GPR34", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 180, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.", "output": {"entities": {"gene": [{"text": "galactose 1-phosphate uridylyltransferase", "start": 68, "end": 109}], "disease": [{"text": "classic galactosemia", "start": 19, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "galactose 1-phosphate uridylyltransferase", "start": 68, "end": 109}, "tail": {"text": "classic galactosemia", "start": 19, "end": 39}}]}}, "schema": []}
{"input": "Reductions in Reelin protein and mRNA and Dab 1 mRNA and elevations in Reln receptor VLDLR mRNA demonstrate impairments in the Reelin signaling system in autism, accounting for some of the brain structural and cognitive deficits observed in the disorder.", "output": {"entities": {"gene": [{"text": "VLDLR", "start": 85, "end": 90}], "disease": [{"text": "autism", "start": 154, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VLDLR", "start": 85, "end": 90}, "tail": {"text": "autism", "start": 154, "end": 160}}]}}, "schema": []}
{"input": "We explored potential associations between genetic polymorphisms in genes related to DNA repair and detoxification metabolism and epidermal growth factor receptor (EGFR) mutations in a cohort of 410 never-smoking patients with lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 164, "end": 168}], "disease": [{"text": "smoking", "start": 205, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "A novel compound heterozygous missense mutation in the RDH5 gene was found in a patient with fundus albipunctatus.", "output": {"entities": {"gene": [{"text": "RDH5", "start": 55, "end": 59}], "disease": [{"text": "fundus albipunctatus", "start": 93, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDH5", "start": 55, "end": 59}, "tail": {"text": "fundus albipunctatus", "start": 93, "end": 113}}]}}, "schema": []}
{"input": "Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p. V80F mutation and a known p. D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1.", "output": {"entities": {"gene": [{"text": "EXOSC3 gene", "start": 267, "end": 278}], "disease": [{"text": "distal amyotrophy", "start": 126, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "These data open the perspective to target HLA class II ligands with specific processing and presentation behavior for CD4 + T cell therapy of hematological malignancies.", "output": {"entities": {"gene": [{"text": "CD4", "start": 118, "end": 121}], "disease": [{"text": "hematological malignancies", "start": 142, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "By 17 months of age, he manifested osteoma cutis, psychomotor retardation, obesity, brachydactyly and resistance to PTH with normocalcemia and mild hyperphosphatemia.", "output": {"entities": {"gene": [{"text": "PTH", "start": 116, "end": 119}], "disease": [{"text": "mild", "start": 143, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "However, whether there are some differences between those 2 groups in baseline clinical characteristics is still unclear. We enrolled consecutive 1271 NSCLC patients detected with either 19 Del or L858R and collected their baseline clinical characteristics including age, sex, comorbidity, smoking and drinking status, body mass index (BMI), TNM stage, histologic type, differentiation, tumor maximum diameter (TMD), and CEA level.", "output": {"entities": {"gene": [{"text": "CEA", "start": 421, "end": 424}], "disease": [{"text": "smoking", "start": 290, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Ectopic expression of these three genes in normal squamous esophageal cells in vitro induces markers of intestinal differentiation, such as KRT20, MUC2, and VILLIN.", "output": {"entities": {"gene": [{"text": "VILLIN", "start": 157, "end": 163}], "disease": [{"text": "esophageal", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Combined deficiency of dystrophin and beta1 integrin in the cardiac myocyte causes myocardial dysfunction, fibrosis and calcification.", "output": {"entities": {"gene": [{"text": "dystrophin", "start": 23, "end": 33}], "disease": [{"text": "calcification", "start": 120, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dystrophin", "start": 23, "end": 33}, "tail": {"text": "calcification", "start": 120, "end": 133}}]}}, "schema": []}
{"input": "Variables included in the maximal multivariate model were male sex, chronic alcoholism, use of ACE inhibitors or angiotensin-receptor blockers, Simplified Acute Physiology Score II score, serum glucose concentration at ICU admission, and the presence of the allele D of the ACE gene.", "output": {"entities": {"gene": [{"text": "ACE", "start": 95, "end": 98}], "disease": [{"text": "chronic alcoholism", "start": 68, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACE", "start": 95, "end": 98}, "tail": {"text": "chronic alcoholism", "start": 68, "end": 86}}]}}, "schema": []}
{"input": "Employing a discordant-sibship case-control design, we examined the association between single nucleotide polymorphisms (SNPs) in RXRA and CASR and risk for colorectal cancer overall and by colorectal subsite and microsatellite instability (MSI) status using data from the Colon Cancer Family Registry.", "output": {"entities": {"gene": [{"text": "RXRA", "start": 130, "end": 134}], "disease": [{"text": "microsatellite instability", "start": 213, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Helicobacter pylori infection in normal gastric mucosa may cause p53 mutations through activation of activation-induced cytidine deaminase (AID) and/or promoter DNA methylation of E-cadherin, an initiator of gastric cancer, and such abnormalities are found even in the precancerous stage of gastric carcinogenesis.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 180, "end": 190}], "disease": [{"text": "abnormalities", "start": 233, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "When cholestasis was induced in pregnant rats, BVR alpha, SVCT1 and SVCT2 expression in maternal and fetal livers was stimulated, and this was further enhanced by UDCA treatment.", "output": {"entities": {"gene": [{"text": "BVR", "start": 47, "end": 50}], "disease": [{"text": "cholestasis", "start": 5, "end": 16}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BVR", "start": 47, "end": 50}, "tail": {"text": "cholestasis", "start": 5, "end": 16}}]}}, "schema": []}
{"input": "Overexpression of IL-22 protected lung cancer cell lines from serum starvation-induced and chemotherapeutic drug-induced apoptosis via activation of STAT3 and its downstream antiapoptotic proteins such as Bcl-2 and Bcl-xL and inactivation of extracellular signal-regulated kinase 1/2.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 215, "end": 221}], "disease": [{"text": "starvation", "start": 68, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that CD40-CD154 signaling is important in late atherosclerotic changes, such as lipid core formation and plaque destabilization.", "output": {"entities": {"gene": [{"text": "CD154", "start": 30, "end": 35}], "disease": [{"text": "plaque", "start": 125, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.", "output": {"entities": {"gene": [{"text": "ASS1", "start": 90, "end": 94}], "disease": [{"text": "citrullinemia type 1", "start": 22, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASS1", "start": 90, "end": 94}, "tail": {"text": "citrullinemia type 1", "start": 22, "end": 42}}]}}, "schema": []}
{"input": "In this study, ENO1 silencing significantly reduced cell glycolysis, proliferation, migration, and invasion in vitro, as well as tumorigenesis and metastasis in vivo by modulating p85 suppression.", "output": {"entities": {"gene": [{"text": "ENO1", "start": 15, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In hypoxic cells, 20 Gy IR induced an additional significant increase in VEGF relative to nonirradiated hypoxic control cells with elevated baseline VEGF levels induced by hypoxia.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 73, "end": 77}], "disease": [{"text": "hypoxia", "start": 172, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Using ChIP-chip analysis, we identified cell migration and adhesion genes, including Tsp-1/THBS1, ING4, PVRL3, and PPAP2B, as Myc-bound loci in medulloblastoma cells.", "output": {"entities": {"gene": [{"text": "THBS1", "start": 91, "end": 96}], "disease": [{"text": "adhesion", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In starvation-stressed TBP/Q36 and TBP/Q79 cells, increased reactive oxygen species generation accelerated the cytoplasmic translocation of HMGB1, which accompanied autophagy activation.", "output": {"entities": {"gene": [{"text": "TBP", "start": 23, "end": 26}], "disease": [{"text": "translocation", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "A functional polymorphism (5-HTTLPR) in the serotonin transporter gene has been widely studied as a risk factor for a variety of psychopathologic conditions including aggressive/violent behavior.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 44, "end": 65}], "disease": [{"text": "aggressive/violent behavior", "start": 167, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "It also suggests that TSLP-mediated DC activation may be involved in Th2 responses triggering B-cell activation in H. pylori-induced gastritis.", "output": {"entities": {"gene": [{"text": "B-cell activation", "start": 94, "end": 111}], "disease": [{"text": "gastritis", "start": 133, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that the hyperemia caused by isoflurane resolves over time during stable 1 MAC isoflurane anesthesia.", "output": {"entities": {"gene": [{"text": "MAC", "start": 98, "end": 101}], "disease": [{"text": "anesthesia", "start": 113, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.", "output": {"entities": {"gene": [{"text": "PEX19", "start": 6, "end": 11}], "disease": [{"text": "Zellweger syndrome", "start": 93, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PEX19", "start": 6, "end": 11}, "tail": {"text": "Zellweger syndrome", "start": 93, "end": 111}}]}}, "schema": []}
{"input": "Markers miR-132, miR-181b, miR-30e and miR-432 are potential indicators for symptomatology improvements, treatment responses and prognosis for schizophrenia patients.", "output": {"entities": {"gene": [{"text": "miR-432", "start": 39, "end": 46}], "disease": [{"text": "schizophrenia", "start": 143, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-432", "start": 39, "end": 46}, "tail": {"text": "schizophrenia", "start": 143, "end": 156}}]}}, "schema": []}
{"input": "According to these results, FUS/TLS is not a susceptibility factor for the development of sporadic FTLD.", "output": {"entities": {"gene": [{"text": "TLS", "start": 32, "end": 35}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the possible influence of the common FBN-1 genotypes on arterial stiffness in a large cohort of healthy individuals.", "output": {"entities": {"gene": [{"text": "FBN", "start": 78, "end": 81}], "disease": [{"text": "arterial stiffness", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Sixty-one diabetics with unprovoked ketosis or ketoacidosis at presentation were tested for glutamic acid decarboxylase antibody (GAD-Ab), tyrosine phosphatase antibody (IA2-Ab), thyroglobulin antibody (TGA), thyroid peroxidase antibody (TPO-Ab) and HLA-DQ genotype.", "output": {"entities": {"gene": [{"text": "IA2", "start": 170, "end": 173}], "disease": [{"text": "ketoacidosis", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.", "output": {"entities": {"gene": [{"text": "WASP", "start": 191, "end": 195}], "disease": [{"text": "WAS", "start": 191, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WASP", "start": 191, "end": 195}, "tail": {"text": "WAS", "start": 191, "end": 194}}]}}, "schema": []}
{"input": "Although CHEK2 is no longer recognized as a major determinant of the Li-Fraumeni syndrome, a hereditary condition predisposing to cancer at multiple sites, it cannot be ruled out that mutations of this gene play a role in malignancies arising in peculiar multi-cancer families.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 9, "end": 14}], "disease": [{"text": "Li-Fraumeni syndrome", "start": 69, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHEK2", "start": 9, "end": 14}, "tail": {"text": "Li-Fraumeni syndrome", "start": 69, "end": 89}}]}}, "schema": []}
{"input": "Immunohistochemical stains performed on paraffin sections from these 6 representative cases showed differential protein expression of MLH1, MSH2, MSH6, and PMS2 when compared to normal reactive tissues from the same patient but showed no significant differences when compared to controls of non-familial, sporadic lymphomas.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 146, "end": 150}], "disease": [{"text": "sporadic", "start": 305, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Age-dependent neurodegeneration accompanying memory loss in transgenic mice defective in mitochondrial aldehyde dehydrogenase 2 activity.", "output": {"entities": {"gene": [{"text": "aldehyde dehydrogenase 2", "start": 103, "end": 127}], "disease": [{"text": "neurodegeneration", "start": 14, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations in PALB2 have been identified in approximately 1-2% of familial breast cancer and 3-4% of familial pancreatic cancer cases.", "output": {"entities": {"gene": [{"text": "PALB2", "start": 22, "end": 27}], "disease": [{"text": "familial pancreatic cancer", "start": 109, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PALB2", "start": 22, "end": 27}, "tail": {"text": "familial pancreatic cancer", "start": 109, "end": 135}}]}}, "schema": []}
{"input": "Moreover, we observed that the short-lived Wwox knock-out mouse display spontaneous and audiogenic seizures, a phenotype previously observed in the spontaneous Wwox mutant rat presenting with ataxia and epilepsy, indicating that homozygous WWOX mutations in different species causes cerebellar ataxia associated with epilepsy.", "output": {"entities": {"gene": [{"text": "WWOX", "start": 240, "end": 244}], "disease": [{"text": "audiogenic seizures", "start": 88, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Together, these data show that loss of Testisin is caused, at least in part, by DNA hypermethylation and histone deacetylation, and suggest a tumour suppressor role for Testisin in testicular tumorigenesis.", "output": {"entities": {"gene": [{"text": "Testisin", "start": 39, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 192, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Several transcripts involved in microRNA processing were found regulated by hypoxia, of which DICER (down-regulated) and AGO4 (up-regulated) were HIF dependent.", "output": {"entities": {"gene": [{"text": "DICER", "start": 94, "end": 99}], "disease": [{"text": "hypoxia", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Abnormal platelet morphology in 2 patients with FLNA-PVNH prompted us to examine a third patient with similar platelet morphology previously diagnosed with immunologic thrombocytopenic purpura.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 48, "end": 52}], "disease": [{"text": "thrombocytopenic purpura", "start": 168, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "miR-10b promotes cell invasion through RhoC-AKT signaling pathway by targeting HOXD10 in gastric cancer.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 39, "end": 43}], "disease": [{"text": "gastric cancer", "start": 89, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, hypercholesterolemia, and hyperuricemia revealed that two polymorphisms (242C--> T in the NADH/NADPH oxidase p22 phox (p22-PHOX) gene and 2136C--> T in the thrombomodulin (THBD) gene) in men and two polymorphisms (584G--> A in the paraoxonase 1 (PON1) gene and 2445G--> A in the fatty acid-binding protein 2 (FABP2) gene) in women were significantly associated with restenosis after POBA.", "output": {"entities": {"gene": [{"text": "THBD", "start": 320, "end": 324}], "disease": [{"text": "smoking", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "As monocytic migration is a key event of atherogenesis, we investigated whether histamine induces monocytic expression of monocyte chemoattractant protein (MCP)-1 and its receptors CCR2-A and-B, and also endothelial expression of ICAM-1 and VCAM-1.", "output": {"entities": {"gene": [{"text": "MCP", "start": 156, "end": 159}], "disease": [{"text": "atherogenesis", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that chronic depression is associated with 5-HTTLPR.", "output": {"entities": {"gene": [{"text": "5-HTTLPR", "start": 65, "end": 73}], "disease": [{"text": "chronic depression", "start": 27, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HTTLPR", "start": 65, "end": 73}, "tail": {"text": "chronic depression", "start": 27, "end": 45}}]}}, "schema": []}
{"input": "In addition, BAMBI transduction disrupted the cytokine network mediating the interaction between MSCs and breast cancer cells.", "output": {"entities": {"gene": [{"text": "BAMBI", "start": 13, "end": 18}], "disease": [{"text": "breast cancer", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The expression of TNC was down-regulated on Day 7 and was no longer apparent by Day 14 after infarction.", "output": {"entities": {"gene": [{"text": "TNC", "start": 18, "end": 21}], "disease": [{"text": "infarction", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Our findings thus suggest that both DAP12 and TREM-1 are involved in the development of granulomatous responses in the liver.", "output": {"entities": {"gene": [{"text": "DAP12", "start": 36, "end": 41}], "disease": [{"text": "liver", "start": 119, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DAP12", "start": 36, "end": 41}, "tail": {"text": "liver", "start": 119, "end": 124}}]}}, "schema": []}
{"input": "Thus, the emergence of hyperdiploidy was associated with qualitative and quantitative differences in TGF beta' s modulation of PDGF-A and c-sis, which provided a mechanism by which the aneuploid glioma cells might achieve' clonal dominance'.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 127, "end": 133}], "disease": [{"text": "aneuploid", "start": 185, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Results showed that TREK-1 and TRAAK mRNA in cortex, TREK-1 and TREK-2 mRNA in hippocampus showed significant increases 2 h after middle cerebral artery occlusion (MCAO).", "output": {"entities": {"gene": [{"text": "TRAAK", "start": 31, "end": 36}], "disease": [{"text": "middle cerebral artery occlusion", "start": 130, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Reduced expression of aquaporin 5 water channel in nitrofen-induced hypoplastic lung with congenital diaphragmatic hernia rat model.", "output": {"entities": {"gene": [{"text": "aquaporin 5", "start": 22, "end": 33}], "disease": [{"text": "diaphragmatic hernia", "start": 101, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "aquaporin 5", "start": 22, "end": 33}, "tail": {"text": "diaphragmatic hernia", "start": 101, "end": 121}}]}}, "schema": []}
{"input": "Our data demonstrate that dic (17; 18) (p11. 2; p11. 2) is a novel recurrent cytogenetic abnormality in CLL associated with early age at diagnosis and accelerated disease progression.", "output": {"entities": {"gene": [{"text": "p11", "start": 40, "end": 43}], "disease": [{"text": "cytogenetic abnormality", "start": 77, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "GRP78 and GRP94 expression was induced by glucose starvation and up-regulated in the malignancies.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 0, "end": 5}], "disease": [{"text": "starvation", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "It was observed that the GFP + cells isolated from ascites and solid tumors exhibited unlimited proliferative potential; the monoclonal cells were mouse‑original, had a cancer cell phenotype and expressed the macrophage marker protein CD68.", "output": {"entities": {"gene": [{"text": "CD68", "start": 235, "end": 239}], "disease": [{"text": "ascites", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "GBM biopsy specimens show little detectable IRF3 immunoreactivity, and in vitro adenovirus-mediated IRF3 gene transfer in glioma cells modulates IL-1/IFNγ-induced cytokine and chemokine genes, resulting in upregulation of IFNβ and IP-10 (IRF3-stimulated genes) and downregulation of proinflammatory and angiogenic genes including IL-8, TNFα and VEGF (IRF3-represssed genes).", "output": {"entities": {"gene": [{"text": "IP-10", "start": 231, "end": 236}], "disease": [{"text": "adenovirus", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Tat-biliverdin reductase A inhibits inflammatory response by regulation of MAPK and NF-κB pathways in Raw 264. 7 cells and edema mouse model.", "output": {"entities": {"gene": [{"text": "biliverdin reductase A", "start": 4, "end": 26}], "disease": [{"text": "edema", "start": 123, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Impact of genetic variants of IL-6, IL6R, LRP5, ESR1 and SP7 genes on bone mineral density in postmenopausal Mexican-Mestizo women with obesity.", "output": {"entities": {"gene": [{"text": "SP7", "start": 57, "end": 60}], "disease": [{"text": "obesity", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To establish whether MRP1 gene copy number is a common feature of the upregulation of MRP1 expression in cancer patients, we studied the MRP1 gene copy number in leukemia patients by fluorescent in situ hybridization (FISH) and real-time PCR.", "output": {"entities": {"gene": [{"text": "FISH", "start": 218, "end": 222}], "disease": [{"text": "leukemia", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "We propose to call this new disorder CDG-IIh or CDG-II/COG8.", "output": {"entities": {"gene": [{"text": "COG8", "start": 55, "end": 59}], "disease": [{"text": "CDG-IIh", "start": 37, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COG8", "start": 55, "end": 59}, "tail": {"text": "CDG-IIh", "start": 37, "end": 44}}]}}, "schema": []}
{"input": "The increased expression of L-WNK1 in the DCT results in increased activity of the Na-Cl cotransporter (NCC) and thus hypervolemia and hypertension.", "output": {"entities": {"gene": [{"text": "WNK1", "start": 30, "end": 34}], "disease": [{"text": "hypervolemia", "start": 118, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterised by chronic white matter oedema.", "output": {"entities": {"gene": [{"text": "MLC", "start": 60, "end": 63}], "disease": [{"text": "oedema", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "During and after pilocarpine-induced status epilepticus, progressive changes of each of CCR7, CCR8, CCR9 and CCR10 proteins occurred in different patterns at various time points.", "output": {"entities": {"gene": [{"text": "CCR10", "start": 109, "end": 114}], "disease": [{"text": "status epilepticus", "start": 37, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCR10", "start": 109, "end": 114}, "tail": {"text": "status epilepticus", "start": 37, "end": 55}}]}}, "schema": []}
{"input": "Interleukin-10 gene polymorphisms are associated with Behcet' s disease but not with Vogt-Koyanagi-Harada syndrome in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "Interleukin-10", "start": 0, "end": 14}], "disease": [{"text": "Behcet' s disease", "start": 54, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Interleukin-10", "start": 0, "end": 14}, "tail": {"text": "Behcet' s disease", "start": 54, "end": 71}}]}}, "schema": []}
{"input": "In the rats with MI, G-CSF could promote EPCs mobilization, increase the mRNA expressions of VEGF and Flk-1, and augment the density of neovascularization in the border area of infarct myocardium.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 93, "end": 97}], "disease": [{"text": "infarct", "start": 177, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "The finding for CACNG5, taken together with the earlier implication of CACNA1C and CACNA1B, strongly suggests a key role for voltage-dependent calcium channel genes in the susceptibility to bipolar disorder and/or schizophrenia.", "output": {"entities": {"gene": [{"text": "CACNG5", "start": 16, "end": 22}], "disease": [{"text": "bipolar disorder", "start": 190, "end": 206}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CACNG5", "start": 16, "end": 22}, "tail": {"text": "bipolar disorder", "start": 190, "end": 206}}]}}, "schema": []}
{"input": "We performed a genetic association study using four functional polymorphisms of the dopamine receptor 4 (DRD4), dopamine transporter (DAT), mono-amino-oxidase A (MAOA) and cathecol-O-methyl-transferase (COMT) genes in 103 patients with chronic daily headache associated with DA (CDHDA).", "output": {"entities": {"gene": [{"text": "DRD4", "start": 105, "end": 109}], "disease": [{"text": "chronic daily headache", "start": 236, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we show that targets of unphosphorylated STAT1, such as antigen presenting genes and CASP1, are also repressed by hypoxia possibly through the same STRA13-mediated mechanism.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 54, "end": 59}], "disease": [{"text": "hypoxia", "start": 127, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The effects of alcohol consumption on pulmonary release of IL-17 are unknown.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 59, "end": 64}], "disease": [{"text": "alcohol consumption", "start": 15, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We have shown here that HNF1beta can overcome the enlargement and the induction of an ectopic pronephros mediated by overexpression of Pax8 and lim1.", "output": {"entities": {"gene": [{"text": "Pax8", "start": 135, "end": 139}], "disease": [{"text": "enlargement", "start": 50, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.", "output": {"entities": {"gene": [{"text": "ARS component B", "start": 28, "end": 43}], "disease": [{"text": "mal de Meleda", "start": 78, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARS component B", "start": 28, "end": 43}, "tail": {"text": "mal de Meleda", "start": 78, "end": 91}}]}}, "schema": []}
{"input": "CRP and IL-6 levels were negatively associated with forced expiratory volume in one second (FEV (1)), forced vital capacity (FVC) and mean forced expiratory flow between 25 and 75% of FVC (FEF (25-75%)).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 8, "end": 12}], "disease": [{"text": "vital capacity", "start": 109, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "RT-PCR analyses indicated that TX-402 reduced the inducible expression of vascular endothelial cell growth factors (VEGF) and glucose transporter type 3 (GLUT-3) under hypoxic conditions selectively.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 116, "end": 120}], "disease": [{"text": "hypoxic", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Pseudoxanthoma elasticum (PXE) is a heritable multisystem disorder manifesting with ectopic calcification of peripheral connective tissues, caused by mutations in the ABCC6 gene.", "output": {"entities": {"gene": [{"text": "ABCC6 gene", "start": 167, "end": 177}], "disease": [{"text": "ectopic calcification", "start": 84, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The LRP1B rs2890652 C allele was associated with insulin resistance, showing a 3. 3% increase (p = 0. 0011) using the HOMA-insulin resistance (HOMA-IR) index and a 2. 2% reduction (p = 0. 0014) with the Matsuda index.", "output": {"entities": {"gene": [{"text": "LRP1B", "start": 4, "end": 9}], "disease": [{"text": "insulin resistance", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The differential diagnosis includes conventional-type papillary renal cell carcinoma, conventional-type (clear cell) renal carcinoma, and the ASPL-TFE3 renal carcinomas associated with the t (X; 17) (p11. 2; q25), with the latter two being morphologically the most similar to the t (X; 1) renal carcinomas.", "output": {"entities": {"gene": [{"text": "ASPL", "start": 142, "end": 146}], "disease": [{"text": "papillary renal cell carcinoma", "start": 54, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The PAX5 protein expression was relatively strong in small-cell lung cancer (SCLC, 11/12); however, its expression was not detected in non-SCLC (NSCLC, n = 13), mesothelioma (n = 7), pancreatic (n = 6), esophageal (n = 6) and head and neck cancer cell lines (n = 12).", "output": {"entities": {"gene": [{"text": "PAX5", "start": 4, "end": 8}], "disease": [{"text": "esophageal", "start": 203, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "As disturbances of serotonin neurotransmission are implicated in alcohol abuse and aggression, we have examined in BDNF (+/-) mice alcohol drinking behavior, as well as central 5-hydroxytryptamine (5-HT) 1A receptor function at the level of 5-HT1A receptor-G protein interaction.", "output": {"entities": {"gene": [{"text": "5-HT1A receptor", "start": 241, "end": 256}], "disease": [{"text": "alcohol abuse", "start": 65, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT1A receptor", "start": 241, "end": 256}, "tail": {"text": "alcohol abuse", "start": 65, "end": 78}}]}}, "schema": []}
{"input": "Several studies in humans have found associations between polymorphisms in the resistin gene and obesity, insulin sensitivity and blood pressure.", "output": {"entities": {"gene": [{"text": "resistin gene", "start": 79, "end": 92}], "disease": [{"text": "blood pressure", "start": 130, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Decreasing the dose of ACTH reduced the systemic blood pressure, but the cardiac hypertrophy progressed and the child subsequently died.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 23, "end": 27}], "disease": [{"text": "cardiac hypertrophy", "start": 73, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 23, "end": 27}, "tail": {"text": "cardiac hypertrophy", "start": 73, "end": 92}}]}}, "schema": []}
{"input": "PHC patients with hypersplenism who displayed elevated levels of alanine transaminase (ALT), aspartate transaminase (AST), γ-glutamyltransferase (GGT), ALK, phosphatase, and prolonged prothrombin time (PT) had a significantly increased risk of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 244, "end": 247}], "disease": [{"text": "hypersplenism", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "We therefore examined whether the inactive ALDH2 * 2 allele is associated with smoking-related chronic airway obstruction.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 43, "end": 48}], "disease": [{"text": "smoking", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Identification of a subtype-specific ENC1 gene related to invasiveness in human pituitary null cell adenoma and oncocytomas.", "output": {"entities": {"gene": [{"text": "ENC1 gene", "start": 37, "end": 46}], "disease": [{"text": "pituitary null cell adenoma", "start": 80, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "To examine whether overexpression of EMSY would mimic the chromosome instability phenotype that is associated with the loss of Brca2 function, we constructed a lentiviral vector (Lenti-EMSY/GFP) that encodes a truncated form of the Emsy protein, including its Brca2-interacting domain, and green fluorescent protein (GFP) and used it to transduce human telomerase-immortalized human breast epithelial (184-hTert) cells, which have a nearly normal karyotype.", "output": {"entities": {"gene": [{"text": "Emsy", "start": 232, "end": 236}], "disease": [{"text": "chromosome instability", "start": 58, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Toll-like receptor 2 deficiency results in impaired antibody responses and septic shock during Borrelia hermsii infection.", "output": {"entities": {"gene": [{"text": "Toll-like receptor 2", "start": 0, "end": 20}], "disease": [{"text": "septic shock", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Therefore, these findings not only reveal a novel pathophysiological function of TWEAK/Fn14 but also uncover a new player that may contribute to the development of cellular insulin resistance in hepatocytes.", "output": {"entities": {"gene": [{"text": "Fn14", "start": 87, "end": 91}], "disease": [{"text": "insulin resistance", "start": 173, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Although patients with mutated type 1 cannabinoid receptors (CB1) polymorphism are associated with renal microvascular damage, the biologic role of CB1 signaling in proteinuria remains uncharacterized till now.", "output": {"entities": {"gene": [{"text": "CB1", "start": 61, "end": 64}], "disease": [{"text": "proteinuria", "start": 165, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: the HyperGEN study.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 38, "end": 49}], "disease": [{"text": "albuminuria", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "While CARD15 variants associated with CD are located within or near the C-terminal leucine-rich repeat domain and cause decreased NF-kappaB activation, BS mutations affect the central nucleotide-binding NACHT domain and result in increased NF-kappaB activation.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 6, "end": 12}], "disease": [{"text": "BS", "start": 152, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CARD15", "start": 6, "end": 12}, "tail": {"text": "BS", "start": 152, "end": 154}}]}}, "schema": []}
{"input": "The deafness-dystonia syndrome (DDS) or Mohr-Tranebjaerg syndrome (MTS, MIM 304700) is a rare X-linked recessive neurological disorder resulting from loss-of-function mutations in the nuclear DDP1/TIMM8A gene, involved in the transport and sorting of proteins to the mitochondrial inner membrane.", "output": {"entities": {"gene": [{"text": "MIM", "start": 72, "end": 75}], "disease": [{"text": "neurological disorder", "start": 113, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In order to follow the spatial and temporal evolution of neuronal damage, cellular activation and stress responses subsequent to lithium-pilocarpine seizures of various durations in the adult rat, we analyzed the expression of Fos protein and local cerebral glucose utilization as markers of cellular activation, HSP72 immunoreactivity and acid fuchsin staining as indicators of cellular stress and injury, and Cresyl violet staining for the assessment of neuronal damage.", "output": {"entities": {"gene": [{"text": "Fos", "start": 227, "end": 230}], "disease": [{"text": "seizures", "start": 149, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Fos", "start": 227, "end": 230}, "tail": {"text": "seizures", "start": 149, "end": 157}}]}}, "schema": []}
{"input": "Haplotypes that included DDX39B (-22C > G and-348C > T) and TNF polymorphisms were not directly associated with mild or complicated malaria infections; however, haplotypes AGC, ACC, GGT, AGT and ACT were associated with increased TNF levels.", "output": {"entities": {"gene": [{"text": "GGT", "start": 182, "end": 185}], "disease": [{"text": "malaria", "start": 132, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The survival promoting activity of ascites was not affected by inhibitors of growth factor receptor including epidermal growth factor receptor (EGFR), VEGFR, FGFR, Her2/neu, and IGF-R1.", "output": {"entities": {"gene": [{"text": "IGF", "start": 178, "end": 181}], "disease": [{"text": "ascites", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Truncated ETV1 encoded by prostate cancer translocation TMPRSS2: ETV1 lacks the critical COP1 binding motifs and was 50-fold more stable than wild-type ETV1.", "output": {"entities": {"gene": [{"text": "COP1", "start": 89, "end": 93}], "disease": [{"text": "prostate cancer", "start": 26, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, long-term PTH replacement in a child with ADH was not unsafe, increased bone mass without negatively impacting mineralization, and improved serum mineral control but did not prevent nephrocalcinosis.", "output": {"entities": {"gene": [{"text": "PTH", "start": 25, "end": 28}], "disease": [{"text": "bone mass", "start": 87, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "we identified association of a single-nucleotide polymorphism in BICD1 with the presence or absence of emphysema (P = 5. 2 × 10 (-7) with at least mild emphysema vs. control subjects; P = 4. 8 × 10 (-8) with moderate and more severe emphysema vs. control subjects).", "output": {"entities": {"gene": [{"text": "BICD1", "start": 65, "end": 70}], "disease": [{"text": "mild", "start": 147, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "HFD-fed mice lacking Cnot7 and Tob express elevated levels of Ucp1 mRNA in iWAT and are resistant to diet-induced obesity.", "output": {"entities": {"gene": [{"text": "Cnot7", "start": 21, "end": 26}], "disease": [{"text": "obesity", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The U251, U87, and C6 glioma cell lines were used in the present study, and the expression of p-Akt, Akt, and MMP-9 was determined through Western blotting, quantitative real-time PCR, and hematoxylin and eosin (HE) staining.", "output": {"entities": {"gene": [{"text": "U87", "start": 10, "end": 13}], "disease": [{"text": "glioma", "start": 22, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The changes in LRIG1 and epidermal growth factor receptor (EGFR) protein levels were measured by Western blot; growth curves were estimated by the tetrazolium (MTT) assay; then cell-cell adhesion, cell-matrix adhesion and cell invasion assays were used to measure proliferation, adhesion and invasion in LGIR1-transfected and control cells.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 59, "end": 63}], "disease": [{"text": "adhesion", "start": 187, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "EC exhibited higher expression levels of markers of oxidative stress (lipid peroxydation level and caveolin-1 mRNA), inflammation (angiopoietin-like 2 mRNA), hypoxia (vascular endothelial growth factor (VEGF)-A mRNA), and cell damage (p53 mRNA).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 203, "end": 207}], "disease": [{"text": "hypoxia", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Therefore, our results indicate that cancer gene therapy combining two or more tumor suppressors, such as IL-24 and OSM, may constitute a novel and effective therapeutic strategy for treating malignant melanoma and other cancers.", "output": {"entities": {"gene": [{"text": "OSM", "start": 116, "end": 119}], "disease": [{"text": "malignant melanoma", "start": 192, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Forced ATF3 over expression in a prostate cancer cell line induced cell proliferation and accelerated cell cycle progression from G1 to S-phase.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 7, "end": 11}], "disease": [{"text": "prostate cancer", "start": 33, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATF3", "start": 7, "end": 11}, "tail": {"text": "prostate cancer", "start": 33, "end": 48}}]}}, "schema": []}
{"input": "We conclude that the recurring Ashkenazi MSH2 and MSH6 mutations contribute little if any to sporadic and familial gastric and pancreatic cases in Israeli patients.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 50, "end": 54}], "disease": [{"text": "sporadic", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Therapeutic strategies for chronic interstitial lung disease have been used successfully in cases of a mild clinical course in juvenile patients with ABCA3 gene mutation.", "output": {"entities": {"gene": [{"text": "ABCA3 gene", "start": 150, "end": 160}], "disease": [{"text": "mild", "start": 103, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "These results may indicate a role of Cx32 and Cx43 in urethane-induced lung carcinogenesis, since their absence may contribute to the development of urethane induced lung tumors.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 37, "end": 41}], "disease": [{"text": "lung tumors", "start": 166, "end": 177}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cx32", "start": 37, "end": 41}, "tail": {"text": "lung tumors", "start": 166, "end": 177}}]}}, "schema": []}
{"input": "All cases of embryonal carcinoma (14 cases), yolk sac tumor (3 cases), and choriocarcinoma (3 cases) showed positive immunostaining for FGF8, FGF4, and FGFR1.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 152, "end": 157}], "disease": [{"text": "embryonal carcinoma", "start": 13, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry with the same antibody showed signal translocation from the physiologic perinuclear compartment observed in glia and unrelated osteoblasts to nuclei of tumor cells, consistent with the likely function of EWSR1-CREB3L1 as a transcriptional regulator predicted by its structure.", "output": {"entities": {"gene": [{"text": "CREB3L1", "start": 231, "end": 238}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Individual records were provided for 2914 participants with normal cognition, 697 with SCI, and 3972 with MCI aged 18 to 100 years from 55 studies.]", "output": {"entities": {"gene": [{"text": "MCI", "start": 106, "end": 109}], "disease": [{"text": "normal cognition", "start": 60, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In summary, we suggest that the miR-21/PDCD4/AP-1 autoregulatory loop is one of the main driving forces for hepatic fibrosis progression.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 45, "end": 49}], "disease": [{"text": "hepatic fibrosis", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "These genes include peptidoglycan recognition protein 2, dual specific phosphatase-4, tetraspanin 4, thrombospondin 1, and SPARC-related modular calcium binding protein-2, which were validated by qPCR analysis of 126 human liver specimens, including steatosis, fibrosis, and NASH, alcohol and hepatitis C cirrhosis, and in mouse models of liver inflammation and injury.", "output": {"entities": {"gene": [{"text": "tetraspanin 4", "start": 86, "end": 99}], "disease": [{"text": "fibrosis", "start": 261, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "XRCC1 Arg399Gln and Arg194Trp, GSTP1 Ile104Val and GSTT1, GSTM1 null polymorphisms were genotyped in 280 cancer-free individuals, including 52 gastric and 31 duodenal ulcer patients.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 0, "end": 5}], "disease": [{"text": "duodenal ulcer", "start": 158, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "At 5 days after infection with ARHI adenovirus, 30-45% of MDA-MB-231 breast cancer cells and 5-11% of SKOv3 ovarian cancer cells were apoptotic as judged by a terminal deoxynucleotidyl transferase-mediated nick end labeling assay and by Annexin V staining with flow cytometric analysis.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 31, "end": 35}], "disease": [{"text": "adenovirus", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "One of its members, NBPF1, was found to be disrupted by a constitutional translocation in a neuroblastoma patient.", "output": {"entities": {"gene": [{"text": "NBPF1", "start": 20, "end": 25}], "disease": [{"text": "translocation", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Here, we utilized a bioinformatics approach to discover 26 miRNA transcription start sites (TSSs) within close proximity to TCF4 chromatin occupancy sites, and validated these sites as bona fide TCF4 targets in LS174T colon carcinoma cells, MCF-7 breast cancer cells and U87 glioma cells by ChIP-PCR.", "output": {"entities": {"gene": [{"text": "U87", "start": 271, "end": 274}], "disease": [{"text": "glioma", "start": 275, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "Using this model, we evaluated if gene replacement therapy using recent advancements in adeno-associated viral vectors (AAV) provides advantages in preventing rapid retinal degeneration.", "output": {"entities": {"gene": [{"text": "AAV", "start": 120, "end": 123}], "disease": [{"text": "retinal degeneration", "start": 165, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Since it remains controversial whether serum phosphate levels are influenced by FGF23 expressions in FD tissue, isolated FD patients without MAS syndrome were examined for the relationship between FGF23 expressions, circulating levels of FGF-23 and phosphate to negate the effects of MAS-associated endocrine abnormalities on serum phosphate.", "output": {"entities": {"gene": [{"text": "FGF23", "start": 80, "end": 85}], "disease": [{"text": "abnormalities", "start": 309, "end": 322}]}, "relations": {}}, "schema": []}
{"input": "In HIDS the mutations are located all along the protein which is different from mevalonic aciduria where MK mutations are mainly clustered to a same region of the protein.", "output": {"entities": {"gene": [{"text": "MK", "start": 105, "end": 107}], "disease": [{"text": "mevalonic aciduria", "start": 80, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MK", "start": 105, "end": 107}, "tail": {"text": "mevalonic aciduria", "start": 80, "end": 98}}]}}, "schema": []}
{"input": "A categorical TDT yielded no significant findings, but the number of transmissions was small, especially for ADHD-inattentive type.", "output": {"entities": {"gene": [{"text": "TDT", "start": 14, "end": 17}], "disease": [{"text": "inattentive", "start": 114, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "LCAT P406L variant had a mild effect on lipid profile, HDL subclass distribution, and plasma cholesterol esterification.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 0, "end": 4}], "disease": [{"text": "mild", "start": 25, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "The genotype frequency of PTX3 was significantly different between the migraine patients and the control subjects.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 26, "end": 30}], "disease": [{"text": "migraine", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We first profiled the expression of miRNAs and mRNAs in a cohort of urothelial carcinomas and further characterised the role of miR-126 in invasion, as it emerged as the most downregulated miRNA between MI and NMI tumours.", "output": {"entities": {"gene": [{"text": "NMI", "start": 210, "end": 213}], "disease": [{"text": "carcinomas", "start": 79, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS).", "output": {"entities": {"gene": [{"text": "FOXP2", "start": 88, "end": 93}], "disease": [{"text": "translocation", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The present study was undertaken to clarify the function (s) of Endothelin-1 and its receptors ETAR and ETBR in osteolytic-bone metastasis from breast cancer, and their regulation by hepatocyte and transforming growth factors (HGF, TGF-β) and hypoxia.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 232, "end": 237}], "disease": [{"text": "hypoxia", "start": 243, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "On the basis of our findings, we propose selective FAP inhibition as a potential therapeutic approach to increase endogenous FGF21 activity for the treatment of obesity, type 2 diabetes, non-alcoholic steatohepatitis, and related metabolic disorders.", "output": {"entities": {"gene": [{"text": "FGF21", "start": 125, "end": 130}], "disease": [{"text": "obesity", "start": 161, "end": 168}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FGF21", "start": 125, "end": 130}, "tail": {"text": "obesity", "start": 161, "end": 168}}]}}, "schema": []}
{"input": "Trans-activation response DNA-binding protein (TDP-43) accumulation is the major component of ubiquitinated protein inclusions found in patients with amyotrophic lateral sclerosis, and frontotemporal lobar degeneration with TDP-43 positive ubiquitinated inclusions, recently relabelled the' TDP-43 proteinopathies'.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 26, "end": 45}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 150, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in an in vivo mouse model of atherosclerosis, zfm1 abundance was decreased in proliferating arterial SMC.", "output": {"entities": {"gene": [{"text": "zfm1", "start": 56, "end": 60}], "disease": [{"text": "atherosclerosis", "start": 39, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "As demonstrated by our identification of multiple, consistent signals across the genome, meta-analytically combining existing GWL data is a valuable approach to narrowing down regions relevant for anxiety-related phenotypes.", "output": {"entities": {"gene": [{"text": "GWL", "start": 126, "end": 129}], "disease": [{"text": "anxiety", "start": 197, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Compared with normal groups, mRNA levels of LAMB1 were up-regulated in lung tissues of patients with pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "LAMB1", "start": 44, "end": 49}], "disease": [{"text": "pulmonary fibrosis", "start": 101, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LAMB1", "start": 44, "end": 49}, "tail": {"text": "pulmonary fibrosis", "start": 101, "end": 119}}]}}, "schema": []}
{"input": "By contrast, high-grade serous carcinomas were characterised by a converse state of PGC1α/TFAM, ERα positivity and a high Ki-67 index.", "output": {"entities": {"gene": [{"text": "TFAM", "start": 90, "end": 94}], "disease": [{"text": "carcinomas", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The analogous mutation in humans is associated with microsatellite instability, defective MMR and cancer, illustrating the utility of the yeast system for studying human disease alleles.", "output": {"entities": {"gene": [{"text": "MMR", "start": 90, "end": 93}], "disease": [{"text": "microsatellite instability", "start": 52, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "By using a bioassay, we also found that hypoxia stimulated the secretion of VEGF protein into the culture medium of Y79 cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 76, "end": 80}], "disease": [{"text": "hypoxia", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We propose that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1, be newly referred to as marfanoid-progeroid syndrome.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 196, "end": 200}], "disease": [{"text": "marfanoid-progeroid syndrome", "start": 226, "end": 254}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 196, "end": 200}, "tail": {"text": "marfanoid-progeroid syndrome", "start": 226, "end": 254}}]}}, "schema": []}
{"input": "A novel T--& gt; G mutation in exon 4 of the PMP22 gene was identified heterozygously in a girl with severe, de novo CMT1A disease.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 45, "end": 50}], "disease": [{"text": "CMT1A", "start": 117, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 45, "end": 50}, "tail": {"text": "CMT1A", "start": 117, "end": 122}}]}}, "schema": []}
{"input": "Linkage of bipolar disorder and recurrent depression to the chromosome 11p15 markers c-Harvey ras, insulin and tyrosine hydroxylase was tested using a series of genetic models with varying penetrance levels.", "output": {"entities": {"gene": [{"text": "tyrosine hydroxylase", "start": 111, "end": 131}], "disease": [{"text": "recurrent depression", "start": 32, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tyrosine hydroxylase", "start": 111, "end": 131}, "tail": {"text": "recurrent depression", "start": 32, "end": 52}}]}}, "schema": []}
{"input": "MCP arthropathy together with a typical pattern of joint involvement is observed in one-third of unselected patients with HHC, and is influenced by the duration and degree of the iron overload.", "output": {"entities": {"gene": [{"text": "MCP", "start": 0, "end": 3}], "disease": [{"text": "iron overload", "start": 179, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Moreover, as the severity of ischemia worsens, a transcriptional and/or translational blockade of the hsp70 gene occurs in the same order so that moderate degrees of ischemia induce HSP70 in CA3 neurons and dentate granule neurons but not necrotic CA1 neurons, and severe ischemia induces HSP70 in capillary endothelial cells of hippocampus but not in any infarcted neurons or glia throughout the hippocampus.", "output": {"entities": {"gene": [{"text": "CA3", "start": 191, "end": 194}], "disease": [{"text": "ischemia", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the effects of the polymorphisms with body mass index (BMI), recent use of aspirin/NSAIDs and genetic variations in genes related to insulin signaling pathways including insulin-like growth factor 1 (IGF1), insulin-like growth factor binding protein 3 (IGFBP3), and insulin-related substrates 1 and 2 (IRS1, IRS2) and the vitamin D receptor (VDR).", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 266, "end": 272}], "disease": [{"text": "body mass index", "start": 51, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "infusion of 0. 3 μg of vehicle or 1. 5 μg of the GLP-1 analog exendin-4 per kilogram of body weight for 2 weeks.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 49, "end": 54}], "disease": [{"text": "body weight", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The majority of the MTS-associated tumors reveal mutations in DNA mismatch repair (MMR) genes (most often hMSH-2 and hMLH-1) and microsatellite instability.", "output": {"entities": {"gene": [{"text": "MMR", "start": 83, "end": 86}], "disease": [{"text": "microsatellite instability", "start": 129, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Fluorescent in situ hybridisation (FISH) was used for analysing the status of HER2 gene in colorectal endometriosis and OEC.", "output": {"entities": {"gene": [{"text": "FISH", "start": 35, "end": 39}], "disease": [{"text": "endometriosis", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The presence of calcinosis and muscle involvement was more frequently detected in SSc patients with elevated CTACK levels (P < 0. 05 and P < 0. 05, respectively).", "output": {"entities": {"gene": [{"text": "CTACK", "start": 109, "end": 114}], "disease": [{"text": "calcinosis", "start": 16, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we quantified the expressions of SP precursor mRNA preprotachykinin (TAC1), NK1R (full and truncated forms), viral load (HIV-gag) and several proinflammatory and immune markers (CD4, CCR5, CXCR4, fractalkine, IL-6, IL-10, CCL2, CCL20 and CD163) in the frontal cortex of autopsied brains from HIV-1-positive individuals with or without HIV-associated neuropathology.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 244, "end": 248}], "disease": [{"text": "viral load", "start": 131, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Polymerase chain reaction (PCR) protocols have been developed to detect the t (14; 18) translocation, which juxtaposes the bcl-2 proto-oncogene to the Ig heavy-chain (IgH) gene in 85% of follicular lymphomas and monoclonal rearrangements of the IgH gene in B-cell NHL that lack bcl-2 rearrangements.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 123, "end": 128}], "disease": [{"text": "translocation", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The acute 56% increase in mean PAP produced by hypoxia during placebo treatment (mean PAP [mean +/-SD mm Hg]: normoxia 16. 0 +/-2. 1 versus hypoxia 25. 0 +/-4. 8) was almost abolished by sildenafil (normoxia 16. 0 +/-2. 1 versus hypoxia 18. 0 +/-3. 6), with no significant effect on systemic blood pressure.", "output": {"entities": {"gene": [{"text": "PAP", "start": 31, "end": 34}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Silenced expression of NFKBIA in lung adenocarcinoma patients with a never-smoking history.", "output": {"entities": {"gene": [{"text": "NFKBIA", "start": 23, "end": 29}], "disease": [{"text": "lung adenocarcinoma", "start": 33, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Our results indicated that LTG may have significant benefits in relief of gait disturbance in MJD patients with early ataxia, and may be related to the decreased expression of mutant ataxin-3.", "output": {"entities": {"gene": [{"text": "LTG", "start": 27, "end": 30}], "disease": [{"text": "gait disturbance", "start": 74, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Using Myc-MYRF chromatin immunoprecipitation data from rat oligodendrocytes, & lt; i & gt; MYRF & lt;/i & gt; was found to bind immediately upstream of the transcriptional start site of & lt; i & gt; Tmem98 & lt;/i & gt;, a gene that itself has been implicated in autosomal dominant nanophthalmos.", "output": {"entities": {"gene": [{"text": "MYRF", "start": 10, "end": 14}], "disease": [{"text": "nanophthalmos", "start": 283, "end": 296}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYRF", "start": 10, "end": 14}, "tail": {"text": "nanophthalmos", "start": 283, "end": 296}}]}}, "schema": []}
{"input": "Adult patients affected by homozygous or compound heterozygous MFRP mutations generally show signs of retinal dystrophy, with ERG disturbances and RPE abnormalities on autofluorescence imaging.", "output": {"entities": {"gene": [{"text": "ERG", "start": 126, "end": 129}], "disease": [{"text": "abnormalities", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Genes involved in inflammation (ALCAM, CTSB, C1S, YKL-40, MIF, SAA2), extracellular matrix remodeling (MMP9, PALLD), angiogenesis (EGFL6, leptin) and oxidative stress (AKR1C3, UCHL1, HSPB7 and NQO1) were upregulated; whereas apoptosis, signal transcription (CITED 2 and NR3C1), cell control and cell cycle-related genes were downregulated.", "output": {"entities": {"gene": [{"text": "AKR1C3", "start": 168, "end": 174}], "disease": [{"text": "inflammation", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Antagonists at CB1-and CB2-receptors were effective in reversing HU210-induced antinociception, whereas a combination of CB1-and CB2-antagonists was required to block the anti-inflammatory effects of HU210 in pancreatitis.", "output": {"entities": {"gene": [{"text": "CB2", "start": 23, "end": 26}], "disease": [{"text": "pancreatitis", "start": 209, "end": 221}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB2", "start": 23, "end": 26}, "tail": {"text": "pancreatitis", "start": 209, "end": 221}}]}}, "schema": []}
{"input": "CDG IA is caused by mutations in the PMM2 gene located in chromosome region 16p13.", "output": {"entities": {"gene": [{"text": "PMM2", "start": 37, "end": 41}], "disease": [{"text": "CDG IA", "start": 0, "end": 6}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMM2", "start": 37, "end": 41}, "tail": {"text": "CDG IA", "start": 0, "end": 6}}]}}, "schema": []}
{"input": "In the present study, 5/6 cases in which FISH was successful had an IGH/BCL2 fusion as would result from the t (14; 18) (q32; q21) translocation commonly seen in FL of extraoral sites.", "output": {"entities": {"gene": [{"text": "IGH", "start": 68, "end": 71}], "disease": [{"text": "FL", "start": 162, "end": 164}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IGH", "start": 68, "end": 71}, "tail": {"text": "FL", "start": 162, "end": 164}}]}}, "schema": []}
{"input": "To clarify the roles of both molecules in tumorigenesis and progression of gastric carcinomas, immunohistochemistry was used on tissue microarray containing gastric carcinomas, adenomas, and nonneoplastic mucosa using the antibodies against GRP78 and GRP94, with a comparison of their expression with clinicopathological parameters of carcinomas.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 241, "end": 246}], "disease": [{"text": "carcinomas", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "As hypoxia is a stimulus in chronic tuberculosis infection, we analyzed transcriptional profiles of MTB subject to 168 hours of hypoxia to test the hypothesis that upregulation by hypoxia might result in gene products being recognized as antigens.", "output": {"entities": {"gene": [{"text": "MTB", "start": 100, "end": 103}], "disease": [{"text": "hypoxia", "start": 3, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "The farnesoid X receptor (FXR) as a new target in non-alcoholic steatohepatitis.", "output": {"entities": {"gene": [{"text": "FXR", "start": 26, "end": 29}], "disease": [{"text": "alcoholic steatohepatitis", "start": 54, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Down-regulation of PKCdelta abolished EGF-induced SphK1 translocation and up-regulation of PAI-1 by EGF; whereas, down-regulation of PKCalpha had no effect on the EGF-induced PAI-1 activation but enhanced its basal expression.", "output": {"entities": {"gene": [{"text": "SphK1", "start": 50, "end": 55}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, enhancing GSIS and insulin sensitivity through the regulation of Nrf2 levels is a potential avenue for developing new therapeutics.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 80, "end": 84}], "disease": [{"text": "insulin sensitivity", "start": 34, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Results showed that systemic administration of PGN to PIA rats obviously deteriorated arthritis severity.", "output": {"entities": {"gene": [{"text": "PGN", "start": 47, "end": 50}], "disease": [{"text": "arthritis", "start": 86, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "This report describes the use of whole-blood spots on filter papers from newborn hemoglobinopathy screening for beta-globin gene cluster haplotyping by the polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "beta-globin", "start": 112, "end": 123}], "disease": [{"text": "blood spots", "start": 39, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The FTO rs9939609 A-allele was associated with elevated fasting blood glucose and plasma insulin, hepatic insulin resistance, and shorter recovery half-times of phosphocreatine and inorganic phosphate after exercise in a primarily type I muscle.", "output": {"entities": {"gene": [{"text": "FTO", "start": 4, "end": 7}], "disease": [{"text": "insulin resistance", "start": 106, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Embryos from carries of der (15) t (Y; 15) (q12; p11) translocation showed a high frequency of chromosome abnormalities.", "output": {"entities": {"gene": [{"text": "p11", "start": 49, "end": 52}], "disease": [{"text": "chromosome abnormalities", "start": 95, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Nerve growth factor serum concentrations increase during many inflammatory and autoimmune diseases, glomerulonephritis, chronic kidney disease, end-stage renal disease and, particularly, in renal transplant.", "output": {"entities": {"gene": [{"text": "Nerve growth factor", "start": 0, "end": 19}], "disease": [{"text": "chronic kidney disease", "start": 120, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nerve growth factor", "start": 0, "end": 19}, "tail": {"text": "chronic kidney disease", "start": 120, "end": 142}}]}}, "schema": []}
{"input": "In nonpregnant myometrium (n = 5), receptor density [maximum binding capacity (Bmax)] and dissociation constant (Kd) for AT2-selective CGP42112A were 287 +/-46 fmol/mg protein and 0. 48 +/-0. 09 nM, respectively.", "output": {"entities": {"gene": [{"text": "AT2", "start": 121, "end": 124}], "disease": [{"text": "dissociation", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.", "output": {"entities": {"gene": [{"text": "SLC34A2", "start": 13, "end": 20}], "disease": [{"text": "alveolar microlithiasis", "start": 37, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC34A2", "start": 13, "end": 20}, "tail": {"text": "alveolar microlithiasis", "start": 37, "end": 60}}]}}, "schema": []}
{"input": "Morpholino knockdown of pofut1 in zebrafish produced a phenotype characteristic of hypopigmentation at 48 hr postfertilization (hpf) and abnormal melanin distribution at 72 hpf, replicating the clinical phenotype observed in our DDD individuals.", "output": {"entities": {"gene": [{"text": "pofut1", "start": 24, "end": 30}], "disease": [{"text": "DDD", "start": 229, "end": 232}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "pofut1", "start": 24, "end": 30}, "tail": {"text": "DDD", "start": 229, "end": 232}}]}}, "schema": []}
{"input": "Homozygous CD18 null mice develop chronic dermatitis with extensive facial and submandibular erosions.", "output": {"entities": {"gene": [{"text": "CD18", "start": 11, "end": 15}], "disease": [{"text": "dermatitis", "start": 42, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD18", "start": 11, "end": 15}, "tail": {"text": "dermatitis", "start": 42, "end": 52}}]}}, "schema": []}
{"input": "In vitro anti-tumor immune response induced by dendritic cells transfected with EBV-LMP2 recombinant adenovirus.", "output": {"entities": {"gene": [{"text": "LMP2", "start": 84, "end": 88}], "disease": [{"text": "adenovirus", "start": 101, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We used real-time PCR to measure the hypothalamic expression of MCH and its receptor (MCHR1) in two contrasting models of altered nutritional status, namely, obesity induced by 8 weeks' voluntary overeating and food restriction for 10 days.", "output": {"entities": {"gene": [{"text": "MCH", "start": 64, "end": 67}], "disease": [{"text": "overeating", "start": 196, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Both CpG methylation and activation-induced deaminase are required for the fragility of the human bcl-2 major breakpoint region: implications for the timing of the breaks in the t (14; 18) translocation.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 98, "end": 103}], "disease": [{"text": "translocation", "start": 189, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "The tumoral regions had lower CD4 and CD8 expression as compared with paired non-neoplastic regions, whereas the expression of IL-17 and Foxp3 did not differ.", "output": {"entities": {"gene": [{"text": "CD4", "start": 30, "end": 33}], "disease": [{"text": "non-neoplastic", "start": 77, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We found that adrenomedullin (AM), VEGF, Glut-1, Glut-3, and Hexokinase-2 among 45 hypoxia-inducible genes investigated were expressed at higher levels under glucose-deprived hypoxic conditions than under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 35, "end": 39}], "disease": [{"text": "hypoxic", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.", "output": {"entities": {"gene": [{"text": "ODC1", "start": 33, "end": 37}], "disease": [{"text": "alopecia", "start": 119, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ODC1", "start": 33, "end": 37}, "tail": {"text": "alopecia", "start": 119, "end": 127}}]}}, "schema": []}
{"input": "The relative expression levels of DCC, NEO1, NTN1, NTN2L, NTN4, UNC5C, Slit1, Slit2, Slit3, Robo1 and Robo2 were simultaneous quantified in 48 tumors and 7 normal prostate tissues by using real-time quantitative reverse transcriptase-polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "NTN2L", "start": 51, "end": 56}], "disease": [{"text": "tumors", "start": 143, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "MxCre-induced knockout of Notch1 led to NRH, in the absence of fibrosis, with a persistent increase in proliferation of LSECs.", "output": {"entities": {"gene": [{"text": "Notch1", "start": 26, "end": 32}], "disease": [{"text": "fibrosis", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Cell adhesion to hyaluronan was significantly lower with CD44 (sol) cells compared to the control cells.", "output": {"entities": {"gene": [{"text": "CD44", "start": 57, "end": 61}], "disease": [{"text": "sol", "start": 63, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "FLNA mutations have been reported in all familial cases and in about 25% of sporadic patients.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset upper motor neuron (UMN) syndromes.", "output": {"entities": {"gene": [{"text": "paraplegin", "start": 52, "end": 62}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "TRAF1 gene polymorphism correlates with the titre of Gp210 antibody in patients with primary biliary cirrhosis.", "output": {"entities": {"gene": [{"text": "TRAF1 gene", "start": 0, "end": 10}], "disease": [{"text": "primary biliary cirrhosis", "start": 85, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In seven HLA-DR3 homozygous patients with celiac disease and three HLA-DR3-homozygous patients with idiopathic membranous nephropathy, only the normal patterns of HLA class II molecules were displayed, the B8, DR3 type occurring in all patients and the B18, DR3 type in one patient.", "output": {"entities": {"gene": [{"text": "B18", "start": 253, "end": 256}], "disease": [{"text": "celiac disease", "start": 42, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the local and systemic expression of CC-chemokine ligand 3 (CCL3) and its receptors (CCR1 and CCR5) in tissue samples and peripheral blood mononuclear cells of recurrent aphthous stomatitis (RAS) patients.", "output": {"entities": {"gene": [{"text": "CCR5", "start": 135, "end": 139}], "disease": [{"text": "recurrent aphthous stomatitis", "start": 201, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Mucin-producing tumors (MPTs) of the pancreas accompanied by carcinomas usually include various grades of dysplasia in the ductal epithelium, and invasive areas are histologically similar to those of common invasive ductal carcinomas, suggesting that MPTs provide a good tool to investigate early stages of pancreatic carcinogenesis.", "output": {"entities": {"gene": [{"text": "MPTs", "start": 24, "end": 28}], "disease": [{"text": "carcinogenesis", "start": 318, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "The alpha (2a)-adrenergic receptor plays a protective role in mouse behavioral models of depression and anxiety.", "output": {"entities": {"gene": [{"text": "alpha (2a)-adrenergic receptor", "start": 4, "end": 34}], "disease": [{"text": "depression", "start": 89, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha (2a)-adrenergic receptor", "start": 4, "end": 34}, "tail": {"text": "depression", "start": 89, "end": 99}}]}}, "schema": []}
{"input": "LYRM4 downregulation may be one of the mechanisms involved in inefficient oxidative phosphorylation and oxidative stress, increasingly recognised as contributors to schizophrenia pathogenesis.", "output": {"entities": {"gene": [{"text": "LYRM4", "start": 0, "end": 5}], "disease": [{"text": "schizophrenia", "start": 165, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LYRM4", "start": 0, "end": 5}, "tail": {"text": "schizophrenia", "start": 165, "end": 178}}]}}, "schema": []}
{"input": "The IL6 genotype may act as a predisposing factor for tacrine transaminitis.", "output": {"entities": {"gene": [{"text": "IL6", "start": 4, "end": 7}], "disease": [{"text": "transaminitis", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "An abnormal expression of cyclin D3, a key regulator of the cell cycle, has been documented in a variety of human malignancies, and the cyclin D3 gene, mapping to 6p21, may be deregulated in human tumors as a result of the t (6; 14) (p21. 1; q32. 3) translocation or gene amplification.", "output": {"entities": {"gene": [{"text": "cyclin D3 gene", "start": 136, "end": 150}], "disease": [{"text": "translocation", "start": 250, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Expression of DICER1 protein was undetectable in the epithelial component of PPB tumors but was retained in the malignant mesenchyme (sarcoma).", "output": {"entities": {"gene": [{"text": "DICER1", "start": 14, "end": 20}], "disease": [{"text": "PPB", "start": 77, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DICER1", "start": 14, "end": 20}, "tail": {"text": "PPB", "start": 77, "end": 80}}]}}, "schema": []}
{"input": "We have therefore generated' knock-in' mouse embryonic stem (ES) cells to investigate the effects of expressing a commonly found hot-spot p53 mutant, R246S--the mouse equivalent of human R249S, which is associated with hepatocellular carcinomas.", "output": {"entities": {"gene": [{"text": "p53", "start": 138, "end": 141}], "disease": [{"text": "hepatocellular carcinomas", "start": 219, "end": 244}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "p53", "start": 138, "end": 141}, "tail": {"text": "hepatocellular carcinomas", "start": 219, "end": 244}}]}}, "schema": []}
{"input": "Our data underscore the necessity of further studies to firmly establish the relationship between genotypes in MAT I/III deficiency and clinical phenotypes, to elucidate the molecular bases of variability in manifestations of MAT1A mutations.", "output": {"entities": {"gene": [{"text": "MAT1A", "start": 226, "end": 231}], "disease": [{"text": "MAT I/III deficiency", "start": 111, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAT1A", "start": 226, "end": 231}, "tail": {"text": "MAT I/III deficiency", "start": 111, "end": 131}}]}}, "schema": []}
{"input": "Here, we demostrate that knockdown of miR-221/222 increases apoptosis in human gliomas of different p53 types (U251 cells, p53 mutant-type; LN308 cells, p53 null-type; and U87 cells, p53 wild-type).", "output": {"entities": {"gene": [{"text": "U87", "start": 172, "end": 175}], "disease": [{"text": "gliomas", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "By screening for mutations in the CTNS exons and promotor region, we report 14 novel mutations associated with cystinosis: 11 underlying infantile cystinosis, two juvenile cystinosis, and one associated with an atypical form of the disease.", "output": {"entities": {"gene": [{"text": "CTNS", "start": 34, "end": 38}], "disease": [{"text": "juvenile cystinosis", "start": 163, "end": 182}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTNS", "start": 34, "end": 38}, "tail": {"text": "juvenile cystinosis", "start": 163, "end": 182}}]}}, "schema": []}
{"input": "Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22. 3.", "output": {"entities": {"gene": [{"text": "FAM20C", "start": 51, "end": 57}], "disease": [{"text": "Raine syndrome", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM20C", "start": 51, "end": 57}, "tail": {"text": "Raine syndrome", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "An interaction between the endothelin-1 gene (EDN1), blood pressure (BP) and social determinants has been previously found.", "output": {"entities": {"gene": [{"text": "EDN1", "start": 46, "end": 50}], "disease": [{"text": "blood pressure", "start": 53, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Salivary duct carcinoma (SDC) often arises in pleomorphic adenoma (PA).", "output": {"entities": {"gene": [{"text": "SDC", "start": 25, "end": 28}], "disease": [{"text": "pleomorphic adenoma", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Although the p27 SNP may protect against vascular fibroproliferation, the effect cannot be generalized to cutaneous scars.", "output": {"entities": {"gene": [{"text": "p27", "start": 13, "end": 16}], "disease": [{"text": "scars", "start": 116, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "MASP-2 levels have been associated with different polymorphisms within MASP2 gene as well as with the risk for inflammatory disorders and infections.", "output": {"entities": {"gene": [{"text": "MASP", "start": 0, "end": 4}], "disease": [{"text": "infections", "start": 138, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Studies on clinical specimens also demonstrated that KRAS mutations are present in premalignant tissues and that most of KRAS mutant human cancers have co-mutations in other cancer driver genes, including TP53, STK11, CDKN2A, and KMT2C in lung cancer; APC, TP53, and PIK3CA in colon cancer; and TP53, CDKN2A, SMAD4, and MED12 in pancreatic cancer.", "output": {"entities": {"gene": [{"text": "KMT2C", "start": 230, "end": 235}], "disease": [{"text": "colon cancer", "start": 277, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "IL28B polymorphism was compared between the 78 patients with mild fibrosis (Metavir score F0-F1) and the 82 with advanced fibrosis (F2-F4).", "output": {"entities": {"gene": [{"text": "IL28B", "start": 0, "end": 5}], "disease": [{"text": "mild", "start": 61, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In the mCIA model, IL-17A neutralization coincident with arthritis development or in mice with established arthritis diminished joint swelling by inhibiting disease initiation and progression.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 19, "end": 25}], "disease": [{"text": "joint swelling", "start": 128, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Human polynucleotide phosphorylase (hPNPaseold-35): a potential link between aging and inflammation.", "output": {"entities": {"gene": [{"text": "polynucleotide phosphorylase", "start": 6, "end": 34}], "disease": [{"text": "inflammation", "start": 87, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Cutaneous sebaceous neoplasia is known to exhibit a high degree of DNA mismatch repair (MMR) deficiency leading to microsatellite instability and these tumors can be markers of the Muir-Torre syndrome and internal malignancy.", "output": {"entities": {"gene": [{"text": "MMR", "start": 88, "end": 91}], "disease": [{"text": "microsatellite instability", "start": 115, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features.", "output": {"entities": {"gene": [{"text": "VAMP2", "start": 55, "end": 60}], "disease": [{"text": "intellectual disability", "start": 203, "end": 226}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VAMP2", "start": 55, "end": 60}, "tail": {"text": "intellectual disability", "start": 203, "end": 226}}]}}, "schema": []}
{"input": "This study investigated differences in 5-HT (4) receptor and 5-HT transporter (5-HTT) binding by quantitative autoradiography of [(3) H] SB207145 and (S)-[N-methyl-(3) H] citalopram in two murine models of depression-related states, olfactory bulbectomy and glucocorticoid receptor heterozygous (GR (+/-)) mice.", "output": {"entities": {"gene": [{"text": "5-HT (4", "start": 39, "end": 46}], "disease": [{"text": "depression", "start": 206, "end": 216}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (4", "start": 39, "end": 46}, "tail": {"text": "depression", "start": 206, "end": 216}}]}}, "schema": []}
{"input": "A trend for association between depression severity and PDYN variation was detected.", "output": {"entities": {"gene": [{"text": "PDYN", "start": 56, "end": 60}], "disease": [{"text": "depression", "start": 32, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDYN", "start": 56, "end": 60}, "tail": {"text": "depression", "start": 32, "end": 42}}]}}, "schema": []}
{"input": "This study was undertaken to clarify the associations between tumor budding, E-cadherin-catenin complex, and CD44 variant 6 abnormalities.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 77, "end": 87}], "disease": [{"text": "abnormalities", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "In this study, under hypoxic conditions (1% O2), we examined the effect of PEITC on the intracellular level of the hypoxia inducible factor (HIF-1α) and extracellular level of the vascular endothelial growth factor (VEGF) in a variety of human cancer cell lines.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 216, "end": 220}], "disease": [{"text": "hypoxic", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Genotypes of GSTM1, GSTT1, and GSTP1 were determined in 352 patients with pancreatic ductal adenocarcinoma and in a control group of 315 healthy, non-Hispanic whites (frequency-matched by age and sex).", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 20, "end": 25}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 74, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "These effects explain how mutant factor H causes defective complement control and in HUS-particularly under condition of inflammation and complement activation-causes endothelial cell damage.", "output": {"entities": {"gene": [{"text": "factor H", "start": 33, "end": 41}], "disease": [{"text": "inflammation", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "These results clearly demonstrate that MEB is inherited as a loss-of-function of POMGnT1.", "output": {"entities": {"gene": [{"text": "POMGnT1", "start": 81, "end": 88}], "disease": [{"text": "MEB", "start": 39, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POMGnT1", "start": 81, "end": 88}, "tail": {"text": "MEB", "start": 39, "end": 42}}]}}, "schema": []}
{"input": "Notch has recently been shown to promote epithelial-to-mesenchymal transition (EMT) by involving in the EMT process that occurs during tumor progression and converts polarized epithelial cells into motile, invasive cells.", "output": {"entities": {"gene": [{"text": "EMT", "start": 79, "end": 82}], "disease": [{"text": "tumor progression", "start": 135, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "FISH assay with a MALT1 dual color break apart translocation probe revealed the absence of MALT1 translocations in all cases.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 18, "end": 23}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Although previous studies have shown acute SERCA2 inactivation to abrogate Ca2 + signaling, we find that chronic inactivation of ATP2A2 in keratinocytes from patients with the similar acantholytic genodermatosis, Darier disease, does not impair the response to raised extracellular Ca2 + levels.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 75, "end": 78}], "disease": [{"text": "genodermatosis", "start": 197, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Clearing of cells bearing the bcl-2 [t (14; 18)] translocation from blood and marrow of patients treated with rituximab alone or in combination with CHOP chemotherapy.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 30, "end": 35}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Microsatellite instability of at least one tested marker was detected in 89% of the MMR-DCF examined, indicating an immediate onset of microsatellite instability after MMR gene inactivation.", "output": {"entities": {"gene": [{"text": "MMR", "start": 84, "end": 87}], "disease": [{"text": "microsatellite instability", "start": 135, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "This study aimed at the completion of the structure and the sequence of the human ASL gene, the development of a genomic DNA-based system for mutation analysis and, finally, the characterisation of the molecular genetic background of ASL deficiency in 27 unrelated patients.", "output": {"entities": {"gene": [{"text": "ASL", "start": 82, "end": 85}], "disease": [{"text": "ASL deficiency", "start": 234, "end": 248}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASL", "start": 82, "end": 85}, "tail": {"text": "ASL deficiency", "start": 234, "end": 248}}]}}, "schema": []}
{"input": "Our results show that LPA treatment under hypoxia increases HIF-1alpha protein level, which leads to increased expression of VEGF protein and mRNA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 125, "end": 129}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}